diff --git a/.circleci/config.yml b/.circleci/config.yml index 171121d88e7..899b14f2954 100644 --- a/.circleci/config.yml +++ b/.circleci/config.yml @@ -33,59 +33,57 @@ run_e2e_and_save_artifacts: &run_e2e_and_save_artifacts - when: condition: << pipeline.parameters.enable_remote_e2e >> steps: - # - run: - # name: "Install yarn at specific version" - # command: - # sudo npm install --global yarn@1.22.4 - attach_workspace: - at: /tmp/ + at: /tmp/repo - run: - name: "Spin up frontend over ssl if necessary and run end to end tests" + name: Install linux dependencies command: | - sudo apt-get install build-essential libcairo2-dev libpango1.0-dev libjpeg-dev libgif-dev librsvg2-dev & \ - yarn serveDist & \ - cd end-to-end-test && \ - yarn install --frozen-lockfile --ignore-engines && \ - ../scripts/env_vars.sh && \ - eval "$(../scripts/env_vars.sh)" && \ - curl $CBIOPORTAL_URL > /dev/null && \ - sleep 5s && \ - curl $CBIOPORTAL_URL > /dev/null && \ - sleep 5s && \ - curl $CBIOPORTAL_URL > /dev/null && \ - sleep 20s && \ - (curl --insecure https://localhost:3000 || curl http://localhost:3000) > /dev/null && \ - sleep 1s && \ - echo "CBIOPORTAL_URL=$CBIOPORTAL_URL" - yarn run test-webdriver-manager-remote - when: always + sudo apt-get install build-essential libcairo2-dev libpango1.0-dev libjpeg-dev libgif-dev librsvg2-dev || true + - run: + name: Check remote cbioportal connection + command: | + cd cbioportal-test + sh ./utils/check-connection.sh --url=$CBIOPORTAL_URL + - run: + name: Run end-to-end tests environment: FRONTEND_TEST_USE_LOCAL_DIST: true WEBPACK_PARALLEL: false + command: | + cd /tmp/repo/cbioportal-frontend + yarn serveDist & + cd /tmp/repo/cbioportal-test + sh ./utils/check-connection.sh --url=https://localhost:3000 --insecure='true' + cd /tmp/repo/cbioportal-frontend/end-to-end-test + ../scripts/env_vars.sh + eval "$(../scripts/env_vars.sh)" + yarn run test-webdriver-manager-remote - run: - name: "Make sure all screenshots are tracked (otherwise the test will always be successful)" - command: 'for f in end-to-end-test/remote/screenshots/reference/*.png; do git ls-files --error-unmatch $f > /dev/null 2> /dev/null || (echo -e "\033[0;31m $f not tracked \033[0m" && touch screenshots_not_tracked); done; ls screenshots_not_tracked > /dev/null 2> /dev/null && exit 1 || exit 0' + name: Make sure all screenshots are tracked (otherwise the test will always be successful) + command: | + cd cbioportal-frontend + for f in end-to-end-test/remote/screenshots/reference/*.png; do git ls-files --error-unmatch $f > /dev/null 2> /dev/null || (echo -e "\033[0;31m $f not tracked \033[0m" && touch screenshots_not_tracked); done; ls screenshots_not_tracked > /dev/null 2> /dev/null && exit 1 || exit 0 - store_artifacts: - path: /tmp/repo/end-to-end-test/remote/screenshots + path: /tmp/repo/cbioportal-frontend/end-to-end-test/remote/screenshots destination: /screenshots - store_artifacts: - path: /tmp/repo/end-to-end-test/shared/image-compare + path: /tmp/repo/cbioportal-frontend/end-to-end-test/shared/image-compare destination: /image-compare - store_artifacts: - path: /tmp/repo/end-to-end-test/remote/error + path: /tmp/repo/cbioportal-frontend/end-to-end-test/remote/error destination: /errorShots - store_test_results: - path: /tmp/repo/end-to-end-test/remote/junit + path: /tmp/repo/cbioportal-frontend/end-to-end-test/remote/junit - store_artifacts: - path: /tmp/repo/end-to-end-test/remote/junit + path: /tmp/repo/cbioportal-frontend/end-to-end-test/remote/junit - store_artifacts: - path: /tmp/repo/end-to-end-test/shared/imageCompare.html + path: /tmp/repo/cbioportal-frontend/end-to-end-test/shared/imageCompare.html destination: /imageCompare.html - store_artifacts: - path: /tmp/repo/end-to-end-test/remote/junit/completeResults.json + path: /tmp/repo/cbioportal-frontend/end-to-end-test/remote/junit/completeResults.json destination: /completeResults.json - store_artifacts: - path: /tmp/repo/end-to-end-test/remote/junit/errors + path: /tmp/repo/cbioportal-frontend/end-to-end-test/remote/junit/errors destination: /errors - unless: condition: << pipeline.parameters.enable_remote_e2e >> @@ -94,106 +92,52 @@ run_e2e_and_save_artifacts: &run_e2e_and_save_artifacts - run: exit 1 jobs: - install: - <<: *defaults - steps: - # - run: - # name: "Install yarn at specific version" - # command: - # sudo npm install --global yarn@1.22.4 - - run: - name: "Show yarn and node versions" - command: | - node --version - yarn --version - - checkout - # cache build artifacts. Use concatenation of all source files as cache - # key. If there are no changes to src/ and yarn.lock, no need to rebuild - - run: - name: "Concatenate all source files to use as hash key for caching dist folder" - command: "cat yarn.lock $(find src/ -type f | sort) $(find packages/ -type f | sort) webpack.config.js vendor-bundles.webpack.config.js > has_source_changed" - - restore_cache: - keys: - - v10-dependencies-plus-dist-{{ checksum "has_source_changed" }} - - v10-dependencies-{{ checksum "yarn.lock" }} - # Download and cache dependencies - - run: yarn - - run: yarn buildModules - #- run: - # name: "Make sure lock file is still the same" - # command: 'git diff --exit-code yarn.lock > /dev/null || (echo -e "New package lock file at $(cat yarn.lock | curl -F c=@- https://ptpb.pw | grep url) (include this file in your PR to fix this test)"; git diff --exit-code yarn.lock; exit 1)' - - save_cache: - paths: - - node_modules - key: v10-dependencies-{{ checksum "yarn.lock" }} - - run: - name: "Run build if no dist folder" - command: 'ls dist || yarn run build' - environment: - DISABLE_SOURCEMAP: true - NO_PARALLEL: true - no_output_timeout: 25m - - run: cd /tmp/repo/end-to-end-test && (ls node_modules || yarn install --frozen-lockfile --ignore-engines) - - save_cache: - paths: - - node_modules - - dist - - common-dist - key: v10-dependencies-plus-dist-{{ checksum "has_source_changed" }} - - persist_to_workspace: - root: /tmp - paths: - - repo - api_sync: <<: *defaults environment: MANUAL_TRIGGER_BRANCH_ENV: << pipeline.parameters.manual_trigger_branch_env >> steps: - attach_workspace: - at: /tmp/ - # check that all api responses are still the same - - run: "bash src/test/check_api_sync.sh" + at: /tmp/repo + - run: + name: Check that all api responses are still the same + command: | + cd cbioportal-frontend + bash src/test/check_api_sync.sh unit_tests_main: <<: *defaults steps: - # - run: - # name: "Install yarn at specific version" - # command: - # sudo npm install --global yarn@1.22.4 - attach_workspace: - at: /tmp/ - # run tests! + at: /tmp/repo - run: - command: "yarn run testMain" + name: Run junit tests main environment: JEST_JUNIT_OUTPUT_DIR: ./junit/unit/main/ JEST_JUNIT_OUTPUT_NAME: test-results-unit-main.xml NODE_OPTIONS: --max-old-space-size=4096 DISABLE_SOURCEMAP: true WEBPACK_PARALLEL: false - when: always + command: | + cd cbioportal-frontend + yarn run testMain - store_test_results: path: ./junit/unit/main/ unit_tests_packages: <<: *defaults steps: - # - run: - # name: "Install yarn at specific version" - # command: - # sudo npm install --global yarn@1.22.4 - attach_workspace: - at: /tmp/ - # run tests! + at: /tmp/repo - run: - command: "yarn run testPackagesCI" + name: Run jest junit tests environment: DISABLE_SOURCEMAP: true NODE_OPTIONS: --max-old-space-size=4096 WEBPACK_PARALLEL: false - when: always + command: | + cd cbioportal-frontend + yarn run testPackagesCI - store_test_results: path: /tmp/junit/module/ @@ -201,33 +145,36 @@ jobs: <<: *defaults steps: - attach_workspace: - at: /tmp/ - # check that no `.only` statements are still in the tests + at: /tmp/repo # Ignore doTest.only in oql parser - run: - name: "Check Forgotten `.only` Statements" - command: "! grep '\\.only' $(find ./src ./end-to-end-test -type f -name '*spec*' | grep -v node_modules) | grep -v 'doTest.only = function' | grep -v expectedParsedResult" + name: "Check forgotten `.only` statements" + command: | + cd cbioportal-frontend + ! grep '\\.only' $(find ./src ./end-to-end-test -type f -name '*spec*' | grep -v node_modules) | grep -v 'doTest.only = function' | grep -v expectedParsedResult check_incorrect_import_statements: <<: *defaults steps: - attach_workspace: - at: /tmp/ - # make sure that there are no relative/incorrect package imports + at: /tmp/repo - run: - name: "Check Incorrect Package Import Statements" - command: yarn run checkIncorrectImportStatements + name: "Check incorrect package import statements" + command: | + cd cbioportal-frontend + yarn run checkIncorrectImportStatements - end_to_end_tests: + e2e_tests: <<: *defaults environment: MANUAL_TRIGGER_BRANCH_ENV: << pipeline.parameters.manual_trigger_branch_env >> SPEC_FILE_PATTERN: << pipeline.parameters.remote_spec_pattern >> JUNIT_REPORT_PATH: ./remote/junit/ SCREENSHOT_DIRECTORY: ./remote/screenshots + CBIOPORTAL_URL: https://www.cbioportal.org <<: *run_e2e_and_save_artifacts - end_to_end_tests_against_master: + e2e_tests_against_master: <<: *defaults environment: SPEC_FILE_PATTERN: ./remote/specs/**/*.spec.js @@ -236,177 +183,221 @@ jobs: CBIOPORTAL_URL: https://master.cbioportal.org <<: *run_e2e_and_save_artifacts - end_to_end_tests_localdb: + prettier: + <<: *defaults + environment: + MANUAL_TRIGGER_BRANCH_ENV: << pipeline.parameters.manual_trigger_branch_env >> + steps: + - attach_workspace: + at: /tmp/repo + - run: + name: 'Check code style with Prettier' + command: | + cd cbioportal-frontend + yarn run prettierCheckCircleCI + + pull_cbioportal_test_codebase: + machine: + image: ubuntu-2204:2024.08.1 + resource_class: medium working_directory: /tmp/repo + steps: + - run: + name: Checkout cbioportal/cbioportal-test + environment: + TEST_REPO_URL: https://github.com/cbioportal/cbioportal-test + command: | + git clone ${TEST_REPO_URL} + - persist_to_workspace: + root: /tmp/repo + paths: cbioportal-test + + checkout: machine: - enabled: true - image: default - resource_class: large + image: ubuntu-2204:2024.08.1 + resource_class: medium + working_directory: /tmp/repo steps: - - when: - condition: << pipeline.parameters.enable_localdb_e2e >> - steps: - - attach_workspace: - at: /tmp/ - - run: - name: Setup python libraries - command: | - pip3 install requests pyyaml - - run: - name: Install dependencies - command: | - sudo apt-get update && \ - sudo apt-get install jq unzip - - run: - name: Setup e2e-environment - command: | - source $PORTAL_SOURCE_DIR/env/custom.sh || true && \ - cd $TEST_HOME/runtime-config && \ - ./setup_environment.sh && ./setup_environment.sh >> $BASH_ENV - - run: - name: Check build whether custom backend is needed - command: | - echo "$CUSTOM_BACKEND" > /tmp/repo/custom_backend_switch - - restore_cache: - # when custom_backend_switch file has '1' a custom backend - # is used and the more extended set of maven repo's will be attached - keys: - - maven-repo-v1-{{ checksum "custom_backend_switch" }} - - run: - name: Build custom backend - command: | - grep -q 0 /tmp/repo/custom_backend_switch || $TEST_HOME/docker_compose/build.sh - no_output_timeout: 25m - - save_cache: - paths: - - ~/.m2 - key: maven-repo-v1-{{ checksum "custom_backend_switch" }} - - run: - name: Setup docker compose assets - command: | - $TEST_HOME/docker_compose/setup.sh - no_output_timeout: 25m - - run: - name: Create MySQL data directory - command: | - docker volume rm --force cbioportal-docker-compose_cbioportal_mysql_data && mkdir -p $CBIO_DB_DATA_DIR && rm -rf $CBIO_DB_DATA_DIR/* - - restore_cache: - keys: - - v12-cbio-database-files-{{ checksum "/tmp/db_data_md5key" }} - - run: - name: Init database - command: | - cd $TEST_HOME/docker_compose && echo $CBIO_DB_DATA_DIR && ls -la $CBIO_DB_DATA_DIR && \ - [ "$(ls -A $CBIO_DB_DATA_DIR)" ] && echo "DB initialization is not needed." || ./initdb.sh - - run: - name: Change owner of MySQL database files (needed by cache) - command: | - sudo chmod -R 777 $CBIO_DB_DATA_DIR && \ - sudo chown -R circleci:circleci $CBIO_DB_DATA_DIR - - save_cache: - paths: - - /tmp/repo/e2e-localdb-workspace/cbio_db_data - key: v12-cbio-database-files-{{ checksum "/tmp/db_data_md5key" }} - - run: - name: Start cbioportal and other services - command: | - $TEST_HOME/docker_compose/start.sh - - run: - name: Change owner of keycloak MySQL database files (needed by cache) - command: | - if (ls "$KC_DB_DATA_DIR"/* 2> /dev/null > /dev/null); then \ - sudo chmod -R 777 $KC_DB_DATA_DIR && \ - sudo chown -R circleci:circleci $KC_DB_DATA_DIR; \ - fi - - run: - name: Run end-2-end tests with studies in local database - command: | - cd $PORTAL_SOURCE_DIR && \ - $TEST_HOME/docker_compose/test.sh - - run: - name: "Make sure all screenshots are tracked (otherwise the test will always be successful)" - command: 'for f in $TEST_HOME/screenshots/reference/*.png; do git ls-files --error-unmatch $f > /dev/null 2> /dev/null || (echo -e "\033[0;31m $f not tracked \033[0m" && touch screenshots_not_tracked); done; ls screenshots_not_tracked > /dev/null 2> /dev/null && exit 1 || exit 0' - - store_artifacts: - path: /tmp/repo/end-to-end-test/local/screenshots - destination: /screenshots - - store_artifacts: - path: /tmp/repo/end-to-end-test/shared/image-compare - destination: /image-compare - - store_artifacts: - path: /tmp/repo/end-to-end-test/local/errorShots - destination: /errorShots - - store_test_results: - path: /tmp/repo/end-to-end-test/local/junit - - store_artifacts: - path: /tmp/repo/end-to-end-test/local/junit - - store_artifacts: - path: /tmp/repo/end-to-end-test/shared/imageCompare.html - destination: /imageCompare.html - - store_artifacts: - path: /tmp/repo/end-to-end-test/local/junit/completeResults.json - destination: /completeResults.json - - store_artifacts: - path: /tmp/repo/end-to-end-test/local/junit/errors - destination: /errors - - unless: - condition: << pipeline.parameters.enable_localdb_e2e >> - steps: - - run: echo "Job Ignored via enable_localdb_e2e" - - run: exit 1 + - checkout: + path: /tmp/repo/cbioportal-frontend + - persist_to_workspace: + root: /tmp/repo + paths: cbioportal-frontend + build_frontend: + <<: *defaults + working_directory: /tmp/repo environment: - PORTAL_SOURCE_DIR: /tmp/repo - TEST_HOME: /tmp/repo/end-to-end-test/local - E2E_WORKSPACE: /tmp/repo/e2e-localdb-workspace - CBIO_DB_DATA_DIR: /tmp/repo/e2e-localdb-workspace/cbio_db_data - KC_DB_DATA_DIR: /tmp/repo/e2e-localdb-workspace/kc_db_data - MANUAL_TRIGGER_BRANCH_ENV: << pipeline.parameters.manual_trigger_branch_env >> - CIRCLE_CI_LOCALDB_SPEC_PATTERN: << pipeline.parameters.localdb_spec_pattern >> + BRANCH_ENV: master + steps: + - attach_workspace: + at: /tmp/repo + - run: + name: Generate cache key for dist + command: | + cd cbioportal-frontend + echo "Concatenate all source files to use as hash key." + cat yarn.lock $(find src/ -type f | sort) $(find packages/ -type f | sort) webpack.config.js vendor-bundles.webpack.config.js > has_source_changed + - restore_cache: + keys: + - v11-dependencies-plus-dist-{{ checksum "cbioportal-frontend/has_source_changed" }} + - v11-dependencies-{{ checksum "cbioportal-frontend/yarn.lock" }} + - run: + name: Download dependencies + command: | + cd cbioportal-frontend + yarn + yarn buildModules + - save_cache: + name: Save dependency cache + key: v11-dependencies-{{ checksum "cbioportal-frontend/yarn.lock" }} + paths: + - cbioportal-frontend/node_modules + - run: + name: Build frontend application + environment: + DISABLE_SOURCEMAP: true + NO_PARALLEL: true + command: | + cd cbioportal-frontend + ls dist || yarn run build + - run: + name: Build frontend tests + command: | + cd cbioportal-frontend/end-to-end-test + ls node_modules || yarn install --frozen-lockfile --ignore-engines + - save_cache: + name: Save dependency plus dist cache + key: v11-dependencies-plus-dist-{{ checksum "cbioportal-frontend/has_source_changed" }} + paths: + - cbioportal-frontend/node_modules + - cbioportal-frontend/dist + - cbioportal-frontend/common-dist + - persist_to_workspace: + root: /tmp/repo + paths: + - cbioportal-frontend - prettier: - <<: *defaults + e2e_localdb_tests: + machine: + image: ubuntu-2204:2024.08.1 + resource_class: large + working_directory: /tmp/repo environment: - MANUAL_TRIGGER_BRANCH_ENV: << pipeline.parameters.manual_trigger_branch_env >> + BACKEND_PORT: 8080 + FRONTEND_PORT: 3000 + DOCKER_IMAGE_MYSQL: cbioportal/mysql:8.0-database-test + DOCKER_IMAGE_CBIOPORTAL: cbioportal/cbioportal:master steps: - attach_workspace: - at: /tmp/ + at: /tmp/repo - run: - name: 'Check code style with Prettier' - command: cd /tmp/repo/ && yarn run prettierCheckCircleCI + name: Generate keycloak config + environment: + STUDIES: 'ascn_test_study study_hg38 teststudy_genepanels study_es_0 lgg_ucsf_2014_test_generic_assay' + command: | + git clone https://github.com/cbioportal/cbioportal-docker-compose.git + cd cbioportal-test + ./utils/gen-keycloak-config.sh --studies="$STUDIES" --template='/tmp/repo/cbioportal-docker-compose/dev/keycloak/keycloak-config.json' --out='/tmp/repo/keycloak-config-generated.json' + - run: + name: Start backend server with keycloak + environment: + KEYCLOAK_CONFIG_PATH: '/tmp/repo/keycloak-config-generated.json' + APPLICATION_PROPERTIES_PATH: '/tmp/repo/cbioportal-frontend/end-to-end-test/local/runtime-config/portal.properties' + command: | + cd cbioportal-test + nohup ./scripts/docker-compose.sh --portal_type='keycloak' >> /tmp/repo/docker-compose-logs.txt 2>&1 & + - run: + name: Check keycloak connection at localhost + command: | + cd cbioportal-test + ./utils/check-connection.sh --url=localhost:8081 --max_retries=50 + - run: + name: Check backend connection at localhost + command: | + cd cbioportal-test + ./utils/check-connection.sh --url=localhost:${BACKEND_PORT} --max_retries=50 + - run: + name: Run e2e localdb tests + environment: + SPEC_FILE_PATTERN: << pipeline.parameters.localdb_spec_pattern >> + CBIOPORTAL_URL: http://localhost:8080 + JUNIT_REPORT_PATH: ./local/junit + SCREENSHOT_DIRECTORY: ./local/screenshots + PORTAL_SOURCE_DIR: /tmp/repo/cbioportal-frontend + TEST_HOME: /tmp/repo/cbioportal-frontend/end-to-end-test/local + command: | + cd $PORTAL_SOURCE_DIR + $TEST_HOME/docker_compose/test.sh + - run: + name: Make sure all screenshots are tracked (otherwise the test will always be successful) + command: | + for f in $TEST_HOME/screenshots/reference/*.png; do git ls-files --error-unmatch $f > /dev/null 2> /dev/null || (echo -e "\033[0;31m $f not tracked \033[0m" && touch screenshots_not_tracked); done; ls screenshots_not_tracked > /dev/null 2> /dev/null && exit 1 || exit 0 + - store_artifacts: + path: /tmp/repo/cbioportal-frontend/end-to-end-test/local/screenshots + destination: /screenshots + - store_artifacts: + path: /tmp/repo/cbioportal-frontend/end-to-end-test/shared/image-compare + destination: /image-compare + - store_artifacts: + path: /tmp/repo/cbioportal-frontend/end-to-end-test/local/errorShots + destination: /errorShots + - store_test_results: + path: /tmp/repo/cbioportal-frontend/end-to-end-test/local/junit + - store_artifacts: + path: /tmp/repo/cbioportal-frontend/end-to-end-test/local/junit + - store_artifacts: + path: /tmp/repo/cbioportal-frontend/end-to-end-test/shared/imageCompare.html + destination: /imageCompare.html + - store_artifacts: + path: /tmp/repo/cbioportal-frontend/end-to-end-test/local/junit/completeResults.json + destination: /completeResults.json + - store_artifacts: + path: /tmp/repo/cbioportal-frontend/end-to-end-test/local/juniterrors + destination: /errors + workflows: - install_and_test: + tests: jobs: - - install + - pull_cbioportal_test_codebase + - checkout + - check_forgotten_spec_only_statements: + requires: + - checkout + - check_incorrect_import_statements: + requires: + - checkout + - build_frontend: + requires: + - checkout - prettier: requires: - - install + - build_frontend filters: branches: ignore: - master - release-* - - unit_tests_main: - requires: - - install - - unit_tests_packages: - requires: - - install - - end_to_end_tests: + - e2e_localdb_tests: requires: - - install - - end_to_end_tests_localdb: + - pull_cbioportal_test_codebase + - build_frontend + - e2e_tests: requires: - - install + - pull_cbioportal_test_codebase + - build_frontend - api_sync: requires: - - install - - check_forgotten_spec_only_statements: + - build_frontend + - unit_tests_packages: requires: - - install - - check_incorrect_import_statements: + - build_frontend + - unit_tests_main: requires: - - install + - build_frontend + + nightly: triggers: - schedule: @@ -416,22 +407,29 @@ workflows: only: - master jobs: - - install - - api_sync: + - pull_cbioportal_test_codebase + - checkout + - build_frontend: requires: - - install - - unit_tests_main: + - checkout + - e2e_localdb_tests: requires: - - install - - unit_tests_packages: + - pull_cbioportal_test_codebase + - build_frontend + - e2e_tests: requires: - - install - - end_to_end_tests: + - pull_cbioportal_test_codebase + - build_frontend + - e2e_tests_against_master: requires: - - install - - end_to_end_tests_against_master: + - pull_cbioportal_test_codebase + - build_frontend + - api_sync: requires: - - install - - end_to_end_tests_localdb: + - build_frontend + - unit_tests_main: + requires: + - build_frontend + - unit_tests_packages: requires: - - install + - build_frontend \ No newline at end of file diff --git a/README.md b/README.md index 941c34e730b..7a472444425 100644 --- a/README.md +++ b/README.md @@ -184,7 +184,7 @@ A custom frontend can be tested against any backend in the web browser using a l ## Run of `localdb` e2e-tests To enable e2e-tests on for features that depend on data that are not included in studies served by the public cBioPortal instance, cbioportal-frontend provides the `e2e local database` (refered to as _e2e-localdb_ or _local e2e_ in this text) facility that allows developers to load custom studies in any backend version used for e2e-tests. CircleCI runs the `e2e-localdb` tests as a separate job. -Files for the local database e2e-tests are located in the `./end-to-end-test/local` directory of cbioportal-frontend. The directory structure of `./end-to-end-test/local` is comparable to that of the `./end-to-end-test/remote` directory used for e2e-tests against remote public cBioPortal instances. +The script that can be used to run e2e-localdb tests is located at [./scripts/e2e.sh](./scripts/e2e.sh). ### Running `localdb` e2e-tests for development @@ -195,67 +195,16 @@ Files for the local database e2e-tests are located in the `./end-to-end-test/loc 3. You need to have a global version of Maven installed. -In a terminal, start the frontend dev server - -``` -export BRANCH_ENV=custom -yarn install --frozen-lockfile // only necessary first time -yarn buildDLL:dev // only necessary first tiem -yarn start -``` - -3. Install dev dependencies: -```bash -cd end-to-end-test -yarn -``` -5. In a second terminal at project root, spinup the backend (api) instance: - -``` -// if you are running for first time, you will need to build the docker containers. -// Answer yes when it prompts you to do so. This will take at least 20 minutes depending -// on your system speed. -// Once you have done this, you can answer no on subsequent attempts - +In a terminal, run the following commands from root directory. +```shell +# Start backend and frontend servers yarn run e2e:spinup -``` - -6. When backend instance is operational, you can run tests. Upon executing -the command below, a browser should open and you should see your tests execute. +# Run tests +yarn run e2e:local ``` -//grep accepts fragments of file name, -//but you MUST using trailing * -//you need only match the file name, not path - -yarn run e2e:local --grep=some.spec* - -``` - - - -### Running e2e-localdb tests _CircleCI_ or _CircleCI+PR_ context -E2e-tests on _CircleCI_ and _CircleCI+PR_ context are triggered via _hooks_ configured on GitHub. Configuration of hooks falls beyond the scope of this manual. - -#### cBioPortal-backend version -E2e-testing against a local database removes dependence on data provided by public cbioportal instances for testing. This makes it possible to test features for data types that are not provided by public cbioportal instances or test features that depend on a backend feature not yet integrated in public cbioportal instances. E2e-localdb tests make use of the `BACKEND` environmental variable to test against a specific backend version. Depending on the running context (see section above) setting the `BACKEND` environmental variable is required or optional (see table below). - -Requirement for setting the BACKEND variable depends on the context of the job: - -| **context** | **BACKEND var** | **comments** | -|------------------------ | ----------------- | ------------ | -| _Local_ | mandatory | | -| _CircleCI_ | mandatory for feature branches | not for `master` or `rc` builds | -| _CircleCI+PR_ | optional | 1. When specified, GitHub PR must be of 'draft' state.
2. When not-specified, backend branch will mirror frontend branch (rc frontend vs. rc backend) | - -The value of the `BACKEND` variable must be formatted as `:`. For example, when the /env/custom.sh file contains `export BACKEND=thehyve:uwe7872A` this is interpreted as a requirement for the commit `uwe7872A` of the _github.com/thehyve/cbioportal_ repository. - -#### BACKEND environmental variable in _CircleCI+PR_ context -Using the `BACKEND` variable e2e-localdb tests can be conducted against any backend version. This poses a risk when testing in _CircleCI+PR_ context, i.e., tests show up as succesful but should have failed against the backend version that compatible with the target cbioportal-frontend branch. To guard against this and prevent merging of incompatible branches into cbioportal-frontend the e2e-localdb tests enforce the use of _draft_ pull requests (see [here](https://help.github.com/en/articles/creating-a-pull-request) for more info). When a cBioPortal backend version is specified (i.e., may require a not yet merged backend branch) and the branch is part of a pull request, the pull request must be in state _draft_. Only when the `BACKEND` variable is not defined a (non-_draft_) e2e-localdb tests will be conducted on branches that are part of pull requests. Needles to say, pull request should for this and other reasons only be merged when the e2e-localdb tests succeed! - -When the `BACKEND` variable is not set, the backend version will be set to the target branch of the pull request, i.e. a pull request to 'rc' branch will be tested against the 'rc' branch of the backend. -#### Writing e2e tests +### Writing e2e tests Some random remarks on e2e-test development - Screenshot tests and DOM-based tests are contained in files that end with *.screenshot.spec.js or *.spec.js, respectively. - Screenshot tests should only be used to test components that cannot be accessed via the DOM. @@ -282,7 +231,7 @@ Making e2e-tests follows the current procedure for the e2e-tests: * Gene panel and gene set matrix data of custom studies must comply with gene panel/sets imported as part of study_es_0. * Imports of custom seed data for gene panels and gene sets are not implemented at the moment of this writing. * In order to minimize time of local database e2e-tests the size of custom studies should be kept as small as possible. -* When developing in _Local_ context port 8081 can be used to access the cbioportal instance ('http://localhost:8081/cbioportal'). +* When developing in _Local_ context port 8080 can be used to access the cbioportal instance ('http://localhost:8080'). #### Debugging help Here are some errors that have been encountered and are hard to debug. diff --git a/end-to-end-test/local/docker_compose/build.sh b/end-to-end-test/local/docker_compose/build.sh deleted file mode 100755 index c665e95cb03..00000000000 --- a/end-to-end-test/local/docker_compose/build.sh +++ /dev/null @@ -1,17 +0,0 @@ -#!/usr/bin/env bash - -set -e -set -u # unset variables throw error -set -o pipefail # pipes fail when partial command fails - -DIR=$PWD - -mkdir -p $E2E_WORKSPACE -cd $E2E_WORKSPACE -git clone --depth 1 --branch $BACKEND_BRANCH --single-branch https://github.com/$BACKEND_PROJECT_USERNAME/cbioportal.git -cd cbioportal -mvn -DskipTests clean install - -cd $PWD - -exit 0 diff --git a/end-to-end-test/local/docker_compose/cbioportal-custombranch.yml b/end-to-end-test/local/docker_compose/cbioportal-custombranch.yml deleted file mode 100644 index efd57496c51..00000000000 --- a/end-to-end-test/local/docker_compose/cbioportal-custombranch.yml +++ /dev/null @@ -1,15 +0,0 @@ -version: '3' - -services: - cbioportal: - volumes: - - $E2E_WORKSPACE/cbioportal:/cbioportal - - $TEST_HOME/runtime-config/portal.properties:/cbioportal/application.properties:ro - - $E2E_WORKSPACE/cbioportal/src/main/resources/db-scripts:/cbioportal/db-scripts - - $TEST_HOME/docker_compose/keycloak/localdb.crt:/cbioportal/local.crt:ro - - $TEST_HOME/docker_compose/keycloak/localdb.key:/cbioportal/local.key - - $E2E_WORKSPACE/keycloak/idp-metadata.xml:/cbioportal/idp-metadata.xml:ro - command: /bin/sh -c "java -Xms2g -Xmx4g -jar cbioportal/target/cbioportal-exec.jar --spring.config.location=cbioportal/application.properties --spring.config.location=cbioportal/application.properties --dat.method=none --multithread.core_pool_size=1 - --authenticate=saml --spring.security.saml2.relyingparty.registration.cbio-idp.assertingparty.metadata-uri=file:/cbioportal/idp-metadata.xml --session.service.url=http://cbioportal-session:5001/api/sessions/my_portal/ - --spring.security.saml2.relyingparty.registration.cbio-idp.entity-id=cbioportal --spring.security.saml2.relyingparty.registration.cbio-idp.signing.credentials[0].certificate-location=file:/cbioportal/local.crt - --spring.security.saml2.relyingparty.registration.cbio-idp.signing.credentials[0].private-key-location=file:/cbioportal/local.key" diff --git a/end-to-end-test/local/docker_compose/cbioportal.yml b/end-to-end-test/local/docker_compose/cbioportal.yml deleted file mode 100644 index 3dca28cd55e..00000000000 --- a/end-to-end-test/local/docker_compose/cbioportal.yml +++ /dev/null @@ -1,20 +0,0 @@ -version: '3' - -services: - cbioportal: - environment: - # TODO: properties need to be in both PORTAL_HOME and - # PORTAL_WEB_HOME. Db connection failes if the properties are not in - # /cbioportal-webapp/. Do we still need /cbioportal/? - PORTAL_HOME: "/cbioportal-webapp" - volumes: - - $TEST_HOME/runtime-config/portal.properties:/cbioportal-webapp/application.properties:ro - - $E2E_WORKSPACE/portalInfo:/portalInfo - -volumes: - cbioportal_mysql_data: - driver: local - driver_opts: - type: 'none' - o: 'bind' - device: $CBIO_DB_DATA_DIR diff --git a/end-to-end-test/local/docker_compose/docker/Dockerfile.screenshottest b/end-to-end-test/local/docker_compose/docker/Dockerfile.screenshottest index 8a2f4e6c4bf..972a7f7e5ae 100644 --- a/end-to-end-test/local/docker_compose/docker/Dockerfile.screenshottest +++ b/end-to-end-test/local/docker_compose/docker/Dockerfile.screenshottest @@ -1,11 +1,6 @@ FROM circleci/node:15.2.1-browsers MAINTAINER Pim van Nierop - LABEL Description="End-2-end test image for cBioPortal frontend" - -#echo INSTALL cavas deps [necessary for visual regression framework] -#RUN apt-get install build-essential libcairo2-dev libpango1.0-dev libjpeg-dev libgif-dev librsvg2-dev - USER root CMD /cbioportal-frontend/end-to-end-test/local/docker_compose/docker/screenshottest.sh diff --git a/end-to-end-test/local/docker_compose/docker/screenshottest.sh b/end-to-end-test/local/docker_compose/docker/screenshottest.sh index 5853a84bc67..11b11d44852 100755 --- a/end-to-end-test/local/docker_compose/docker/screenshottest.sh +++ b/end-to-end-test/local/docker_compose/docker/screenshottest.sh @@ -4,14 +4,9 @@ set -e set -u # unset variables throw error set -o pipefail # pipes fail when partial command fails -#echo INSTALL SCREENSHOT DEPENDENCIES -#cd /cbioportal-frontend/end-to-end-test -#yarn install --frozen-lockfile - export FRONTEND_TEST_USE_LOCAL_DIST=false export HEADLESS_CHROME=false -#echo START SERVE_DIST cd /cbioportal-frontend yarn serveDistLocalDb & diff --git a/end-to-end-test/local/docker_compose/initdb.sh b/end-to-end-test/local/docker_compose/initdb.sh deleted file mode 100755 index a3234a16e4a..00000000000 --- a/end-to-end-test/local/docker_compose/initdb.sh +++ /dev/null @@ -1,82 +0,0 @@ -#!/usr/bin/env bash - -set -e -set -u # unset variables throw error -set -o pipefail # pipes fail when partial command fails - -DIR=$PWD - -cd $E2E_WORKSPACE/cbioportal-docker-compose - -# If the mysql data dir is empty, download schema and seed before starting -if [ ! "$(ls -A $CBIO_DB_DATA_DIR)" ]; then - rm -rf data/cgds.sql - rm -rf data/seed.sql.gz - curl $DB_CGDS_URL > data/cgds.sql - curl $DB_SEED_URL > data/seed.sql.gz -fi - -compose_extensions="-f docker-compose.yml -f $TEST_HOME/docker_compose/cbioportal.yml" -#if [ $CUSTOM_BACKEND -eq 1 ]; then - #compose_extensions="$compose_extensions -f $TEST_HOME/docker_compose/cbioportal-custombranch.yml" -#fi - -rm -rf $CBIO_DB_DATA_DIR/* -mkdir -p $CBIO_DB_DATA_DIR -docker-compose $compose_extensions up -d cbioportal -echo - -echo "Init DB" - -# wait for up to 15m until all services are up and running -healthy= -for i in {1..30}; do - [[ $(curl -sf http://localhost:8080/api/health) ]] && { healthy=1; break; } || echo "Waiting for cBioPortal service ..." - sleep 10 -done -[ -z "$healthy" ] && { echo "Error starting cBioPortal services."; exit 1; } || echo "Waiting for cBioPortal service ... done" - -# import study_es_0 -echo "Loading study_es_0 geneset and GSVA data" -docker-compose $compose_extensions run --rm \ - -v "$TEST_HOME/test_data:/test_data" \ - cbioportal \ - sh -c 'cd /core/scripts/ \ - && ./importGenePanel.pl --data /test_data/study_es_0/data_gene_panel_testpanel1.txt \ - && ./importGenePanel.pl --data /test_data/study_es_0/data_gene_panel_testpanel2.txt \ - && ./importGenesetData.pl --data /test_data/genesets/study_es_0_genesets.gmt --new-version msigdb_7.5.1 \ - --sup /test_data/genesets/study_es_0_supp-genesets.txt --confirm-delete-all-genesets-hierarchy-genesetprofiles\ - && ./importGenesetHierarchy.pl --data /test_data/genesets/study_es_0_tree.yaml' - -# dump portalInfo -echo "Exporting cBioPortal data ..." -docker-compose $compose_extensions run --rm \ - -v "$TEST_HOME/test_data:/test_data" \ - cbioportal sh -c 'cd /core/scripts/ && ./dumpPortalInfo.pl /portalInfo/' -echo "Exporting cBioPortal data ... done" - -# import study_es_0 -echo "Loading study_es_0" -docker-compose $compose_extensions run --rm \ - -v "$TEST_HOME/test_data:/test_data" \ - cbioportal sh -c '\ - cd /core/scripts/importer && ./metaImport.py -o -p /portalInfo -s /test_data/study_es_0' - -for DIR in "$TEST_HOME"/studies/*/; do - - echo "Loading study $DIR" - docker-compose $compose_extensions run --rm \ - -v "$DIR:/study-to-import:rw" \ - cbioportal \ - sh -c 'docker-entrypoint.sh && cd /core/scripts/importer && ./metaImport.py \ - -o \ - -p /portalInfo \ - -s /study-to-import' - -done - -docker-compose $compose_extensions down - -cd $PWD - -exit 0 diff --git a/end-to-end-test/local/docker_compose/keycloak.yml b/end-to-end-test/local/docker_compose/keycloak.yml deleted file mode 100644 index ababb5c9ad3..00000000000 --- a/end-to-end-test/local/docker_compose/keycloak.yml +++ /dev/null @@ -1,50 +0,0 @@ -version: "3" - -services: - cbioportal: - volumes: - - $TEST_HOME/docker_compose/keycloak/localdb.crt:/cbioportal-webapp/local.crt:ro - - $TEST_HOME/docker_compose/keycloak/localdb.key:/cbioportal-webapp/local.key - - $E2E_WORKSPACE/keycloak/idp-metadata.xml:/cbioportal-webapp/client-tailored-saml-idp-metadata.xml:ro - command: > - /bin/sh -c "java -Xms2g -Xmx4g -cp '/cbioportal-webapp:/cbioportal-webapp/lib/*' org.cbioportal.PortalApplication --spring.config.location=cbioportal-webapp/application.properties --dat.method=none --multithread.core_pool_size=1 - --authenticate=saml --spring.security.saml2.relyingparty.registration.cbio-idp.assertingparty.metadata-uri=classpath:/client-tailored-saml-idp-metadata.xml --session.service.url=http://cbioportal-session:5001/api/sessions/my_portal/ - --spring.security.saml2.relyingparty.registration.cbio-idp.entity-id=cbioportal --spring.security.saml2.relyingparty.registration.cbio-idp.signing.credentials[0].certificate-location=classpath:/local.crt - --spring.security.saml2.relyingparty.registration.cbio-idp.signing.credentials[0].private-key-location=classpath:/local.key" - keycloak: - networks: - - cbio-net - container_name: keycloak - image: quay.io/keycloak/keycloak:11.0.3 - restart: unless-stopped - depends_on: - - kcdb - ports: - - "8081:8080" - environment: - - DB_VENDOR=mysql - - DB_ADDR=kcdb - - DB_USER=keycloak - - DB_PORT=3306 - - DB_PASSWORD=password - - DB_DATABASE=keycloak - - KEYCLOAK_USER=admin - - KEYCLOAK_PASSWORD=admin - - JDBC_PARAMS=${KEYCLOAK_JDBC_PARAMS:-useSSL=false&serverTimezone=UTC} - - kcdb: - networks: - - cbio-net - image: mysql:5.7 - container_name: kcdb - restart: unless-stopped - volumes: - - $E2E_WORKSPACE/kc_db_data:/var/lib/mysql - environment: - - MYSQL_ROOT_PASSWORD=root_password - - MYSQL_USER=keycloak - - MYSQL_PASSWORD=password - - MYSQL_DATABASE=keycloak - command: --ssl=0 --lower_case_table_names=1 -networks: - cbio-net: diff --git a/end-to-end-test/local/docker_compose/keycloak/keycloak-config.json b/end-to-end-test/local/docker_compose/keycloak/keycloak-config.json deleted file mode 100644 index 885d69f2217..00000000000 --- a/end-to-end-test/local/docker_compose/keycloak/keycloak-config.json +++ /dev/null @@ -1,145 +0,0 @@ -{ - "id": "cbio", - "realm": "cbio", - "displayName": "cBioPortal", - "enabled": true, - "defaultGroups": [ - "PUBLIC_STUDIES" - ], - "loginWithEmailAllowed": false, - "sslRequired": "none", - "clients": [ - { - "clientId": "cbioportal", - "enabled": true, - "protocol": "saml", - "fullScopeAllowed": false, - "adminUrl": "http://localhost:8080/saml", - "redirectUris": [ - "http://localhost:8080/*" - ], - "attributes": { - "saml.assertion.signature": "false", - "saml.signing.certificate": "MIIDjzCCAnegAwIBAgIUMhfqNu/uQxalm+C0fzO1gW6Z4MUwDQYJKoZIhvcNAQEL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\nqe0z", - "saml.force.post.binding": "false", - "saml.signature.algorithm": "RSA_SHA256", - "saml_single_logout_service_url_post": "http://localhost:8080/saml/logout", - "saml_force_name_id_format": "true", - "saml.client.signature": "true", - "saml.authnstatement": "true", - "saml_name_id_format": "email", - "saml.server.signature": "true", - "saml_signature_canonicalization_method": "http://www.w3.org/2001/10/xml-exc-c14n#" - }, - "protocolMappers": [ - { - "name": "role list", - "protocol": "saml", - "protocolMapper": "saml-role-list-mapper", - "consentRequired": false, - "config": { - "single": "false", - "attribute.name": "Role", - "attribute.nameformat": "Basic" - } - }, - { - "name": "X500 email", - "protocol": "saml", - "protocolMapper": "saml-user-property-mapper", - "consentRequired": false, - "consentText": "${email}", - "config": { - "user.attribute": "email", - "friendly.name": "email", - "attribute.name": "email", - "attribute.nameformat": "Basic" - } - } - ], - "defaultClientScopes": [], - "optionalClientScopes": [] - }, - { - "clientId": "cbioportal_api", - "name": "cBioPortal OIDC client", - "enabled": true, - "protocol": "openid-connect", - "fullScopeAllowed": true, - "redirectUris": [ - "http://localhost:8080/api/data-access-token/oauth2" - ], - "protocolMappers": [ - { - "name": "cbioportal_api_audience", - "protocol": "openid-connect", - "protocolMapper": "oidc-audience-mapper", - "config": { - "included.client.audience": "cbioportal_api", - "id.token.claim": "false", - "access.token.claim": "true" - } - } - ], - "defaultClientScopes": [ - "roles" - ], - "optionalClientScopes": [ - "offline_access" - ] - } - ], - "users": [ - { - "username": "testuser", - "enabled": true, - "email": "testuser@thehyve.nl", - "credentials": [ - { - "type": "password", - "value": "P@ssword1" - } - ], - "realmRoles": [ - "offline_access" - ], - "groups": [ - "/PUBLIC_STUDIES" - ] - } - ], - "groups": [ - { - "name": "PUBLIC_STUDIES", - "clientRoles": { - "cbioportal": [ - "study_es_0", - "ascn_test_study", - "teststudy_genepanels", - "lgg_ucsf_2014_test_generic_assay" - ] - } - } - ], - "roles": { - "client": { - "cbioportal": [ - { - "name": "study_es_0" - }, - { - "name": "ascn_test_study" - }, - { - "name": "teststudy_genepanels" - }, - { - "name": "lgg_ucsf_2014_test_generic_assay" - }, - { - "name": "study_hg38" - } - ] - } - } -} \ No newline at end of file diff --git a/end-to-end-test/local/docker_compose/keycloak/localdb.crt b/end-to-end-test/local/docker_compose/keycloak/localdb.crt deleted file mode 100644 index a2459eb37da..00000000000 --- a/end-to-end-test/local/docker_compose/keycloak/localdb.crt +++ /dev/null @@ -1,22 +0,0 @@ ------BEGIN CERTIFICATE----- -MIIDjzCCAnegAwIBAgIUMhfqNu/uQxalm+C0fzO1gW6Z4MUwDQYJKoZIhvcNAQEL -BQAwVzELMAkGA1UEBhMCVVMxETAPBgNVBAgMCE5ldyBZb3JrMREwDwYDVQQHDAhO -ZXcgWW9yazEOMAwGA1UECgwFTVNLQ0MxEjAQBgNVBAMMCWxvY2FsaG9zdDAeFw0y -NDExMjIyMTI2MzdaFw0zNDExMjAyMTI2MzdaMFcxCzAJBgNVBAYTAlVTMREwDwYD -VQQIDAhOZXcgWW9yazERMA8GA1UEBwwITmV3IFlvcmsxDjAMBgNVBAoMBU1TS0ND -MRIwEAYDVQQDDAlsb2NhbGhvc3QwggEiMA0GCSqGSIb3DQEBAQUAA4IBDwAwggEK -AoIBAQDOWG/PpXUXjnYpptbMmIeB/6iz8P3/ZenMcAorXwSSYdohUkNKmHzKfdo6 -dWz3RnPziw9dmxKhUUemCtEtIhNwhU2W+d+D3OOkB7xHcW+pXjPEFEG2BBGp0NEu -7tQ6WRV3obtZ+vdIxrQcdh1a8Fig2WWY1acNqg6lTPABH2B8SjKsVFITBVjCIENh -asK5naseWGj9LK/0SGaD2RxoHAV7u+7vh7d8p7gHuvdKyJpb3CE7LBo/24YIo4Sx -Os7bWACFsmMqv1zqDwKjfpg3RFtu13R1MU2AKz7VIVGuSyNZUSMKMhnuiqidwK1/ -pARfzRT9boYZpz8Etz4RYzE6J6UVAgMBAAGjUzBRMB0GA1UdDgQWBBQflqDtFbAk -3FKnAmAaxTlv8kR1GzAfBgNVHSMEGDAWgBQflqDtFbAk3FKnAmAaxTlv8kR1GzAP -BgNVHRMBAf8EBTADAQH/MA0GCSqGSIb3DQEBCwUAA4IBAQBGDMY4FtK7MQF7tllt -8VSkqsVmnQTJPl0ahsBDC4JeeZpf+znfXrOG4X9OegnloaPVsU2GHL2uD3fsVDtd -2oDU9N2mr18kG2pUMsN3gfx83ANukAGah3x/PPO/Cu1KJlvYlTXrDt35y4dxvZqP -qKdtUZNtqWlLiGUSylH9FpgrS8n1k47zCslyyo0ThXJeo2ct9IMP2WV4HAAUPokz -6oNzN4fgmvXfXH2F+FLcypD31uCQFwnpuEsYVn8UM7Md14Xv08/79uN5MES0/9kv -F4BQx7Cjd1lvL243rzgz5dDd7+JYYa9BwmRggmQXFmvQnVsS3iU8L7oHy4BVwoGa -qe0z ------END CERTIFICATE----- diff --git a/end-to-end-test/local/docker_compose/keycloak/localdb.key b/end-to-end-test/local/docker_compose/keycloak/localdb.key deleted file mode 100644 index a1e86810ea6..00000000000 --- a/end-to-end-test/local/docker_compose/keycloak/localdb.key +++ /dev/null @@ -1,28 +0,0 @@ ------BEGIN PRIVATE KEY----- -MIIEvgIBADANBgkqhkiG9w0BAQEFAASCBKgwggSkAgEAAoIBAQDOWG/PpXUXjnYp -ptbMmIeB/6iz8P3/ZenMcAorXwSSYdohUkNKmHzKfdo6dWz3RnPziw9dmxKhUUem -CtEtIhNwhU2W+d+D3OOkB7xHcW+pXjPEFEG2BBGp0NEu7tQ6WRV3obtZ+vdIxrQc -dh1a8Fig2WWY1acNqg6lTPABH2B8SjKsVFITBVjCIENhasK5naseWGj9LK/0SGaD -2RxoHAV7u+7vh7d8p7gHuvdKyJpb3CE7LBo/24YIo4SxOs7bWACFsmMqv1zqDwKj -fpg3RFtu13R1MU2AKz7VIVGuSyNZUSMKMhnuiqidwK1/pARfzRT9boYZpz8Etz4R -YzE6J6UVAgMBAAECggEBAKOADbCR4RL2Tgi46zCYl57ZTfqutQQe47+a82PkWUII -CQgoH6vG4fKtADMcAmh4yb2rbVR1YLC0L7qQjahefNrGtXEwsvvQFgxOGNDfQGQK -gagXiO3JkZlmHao7kaxeFBWD8Gje4/wlfmei66W4FfH18HvGpyS7n/k42l95VkGE -ONTB9G2lJBtJYeusyz7/CJpnxSmD+Fpg7apyIRx+POWp7X6GO9pDgzEw8ATa9hsv -1NKfEe/X4oKhLPhZSBXI3KCldtvwixAG1c4H6298MvXqBZqCEURm58yl7OBUnH9m -iW9zazRJUyOPnslN7ci61H/CRPujc+lzanM1+snGo6ECgYEA71lGTldk8nyYKNRt -opb5FY+jKbCvfN3tSOG3F3Btms1xYqvauYtRS2PddhTYsY5tsjxsv0Xoq3cHtf0q -J6DWWUTayTmrt7KFwoKgZS3/xje964YYHxDdcqtv/2su8vsaNozyLntAFVPIxEmt -hy27EVZp39VdFxt4+2n2Lq36jRkCgYEA3LNiXhuuWiHfN6Ll822Myj16Sze4GLxc -Yy5kUVE6xDTlQmEMg9a6yH0i05+ReCBEarGvbKZwRrYhVA1Wc8abYAKX0mkhX/hU -4cmNdOgDYktwsj+ClPAecho25FN/032J0wHT5kQBxRSfx3Jom9YF3HUhMH06D/Ki -A/ksuaqe210CgYEAlTX6dmxVKjYyRYHotyuXLLHW7e6P+DAB9SWBlsMoERFyVij8 -uh74Fx+yuCJW1JoOGMdCpBtY6UvTKskgtoO2HQCnxDqHqoVIjfIRPAJpKZEmfOWj -s/o3k3z83SZcpm2T8d38PK3pTWJmDrg/zb3cmPpeFoRU/ErMKS/toTwkrkECgYBN -4ApEtLXH3g3anuNPCwfT0O+XHPkb2VMsOBFz1BrNYvDGhGIbHyjXV7hzPenhnlkl -4L7KsswJV3jZJL+tqJXoweF6gFgjegfRiAIfD0Mqav5AF0LndPb5QiC+XmxLXw/D -4fA4XyTUuttKUCdzXYjB6p6kcnuLZw0eI81RUlAtjQKBgHXE4hEumYSl/XtRG1FE -ydZAqlfsvf0omvxsS75OPmfR1PqDVsDMVFoR7N2qLdwSiwf8SPweKTZyatXZWgZz -nwe2fHE44aE9d0wJt25c0p33CogWAt+4HtsGiKKw19kn6AYFDCagWj3HOUSO2TDP -PaqhLuUVEro3oDK9L++fRVx+ ------END PRIVATE KEY----- diff --git a/end-to-end-test/local/docker_compose/keycloak/samlKeystore.jks b/end-to-end-test/local/docker_compose/keycloak/samlKeystore.jks deleted file mode 100644 index 86c1124ff85..00000000000 Binary files a/end-to-end-test/local/docker_compose/keycloak/samlKeystore.jks and /dev/null differ diff --git a/end-to-end-test/local/docker_compose/keycloak_init.yml b/end-to-end-test/local/docker_compose/keycloak_init.yml deleted file mode 100644 index 1885b569eb1..00000000000 --- a/end-to-end-test/local/docker_compose/keycloak_init.yml +++ /dev/null @@ -1,8 +0,0 @@ -version: '3' - -services: - keycloak: - volumes: - - $E2E_WORKSPACE/keycloak/keycloak-config-generated.json:/tmp/realm.json:ro - environment: - - KEYCLOAK_IMPORT=/tmp/realm.json diff --git a/end-to-end-test/local/docker_compose/setup.sh b/end-to-end-test/local/docker_compose/setup.sh deleted file mode 100755 index 0b89753388a..00000000000 --- a/end-to-end-test/local/docker_compose/setup.sh +++ /dev/null @@ -1,28 +0,0 @@ -#!/usr/bin/env bash - -set -e -set -u # unset variables throw error -set -o pipefail # pipes fail when partial command fails - -DIR=$PWD - -mkdir -p $E2E_WORKSPACE -mkdir -p $E2E_WORKSPACE/keycloak -cd $E2E_WORKSPACE -git clone https://github.com/cBioPortal/cbioportal-docker-compose.git -cd cbioportal-docker-compose - -# update keycloak config with permissions for test studies -config_json="$(cat $TEST_HOME/docker_compose/keycloak/keycloak-config.json)" -studies=$(find $TEST_HOME/studies -name meta_study.txt -exec grep cancer_study_identifier {} \; | awk 'NF>1{print $NF}') -studies=(study_es_0 coadread_tcga_pub acc_tcgaa $studies) -studies_json_array=$(printf '%s\n' "${studies[@]}" | jq -R . | jq -s .) -studies_json_object=$(jq '[.[] | {name: .}]' <<< $studies_json_array) -config_json=$(jq '.roles.client.cbioportal='"$studies_json_object" <<< $config_json) -config_json=$(jq '(.groups[] | select (.name == "PUBLIC_STUDIES") | .clientRoles.cbioportal) = '"$studies_json_array" <<< $config_json) -echo 'Creating realm ... (see keycloak-config-generated.json for settings)' -echo "$config_json" > ../keycloak/keycloak-config-generated.json - -cd $PWD - -exit 0 diff --git a/end-to-end-test/local/docker_compose/start.sh b/end-to-end-test/local/docker_compose/start.sh deleted file mode 100755 index f56b078b26a..00000000000 --- a/end-to-end-test/local/docker_compose/start.sh +++ /dev/null @@ -1,46 +0,0 @@ -#!/usr/bin/env bash - -set -e -set -u # unset variables throw error -set -o pipefail # pipes fail when partial command fails -shopt -s nullglob # allows files and dir globs to be null - needed in 'for ... do' loops that should not run when no files/dirs are detected by expansion - -DIR=$PWD - -cd $E2E_WORKSPACE/cbioportal-docker-compose - -compose_extensions="-f docker-compose.yml -f $TEST_HOME/docker_compose/cbioportal.yml -f $TEST_HOME/docker_compose/keycloak.yml" -if [ $CUSTOM_BACKEND -eq 1 ]; then - compose_extensions="$compose_extensions -f $TEST_HOME/docker_compose/cbioportal-custombranch.yml" -fi - -if (ls "$KC_DB_DATA_DIR"/* 2> /dev/null > /dev/null); then - compose_extensions="$compose_extensions -f $TEST_HOME/docker_compose/keycloak_init.yml" -fi - -# initiate keycloak and get idp-client-metadata -docker-compose $compose_extensions up -d keycloak -healthy= -for i in {1..30}; do - [[ $(curl --write-out '%{http_code}' --silent --output /dev/null http://localhost:8081) == 200 ]] && { healthy=1; break; } || echo "Waiting for Keycloak service ..." - sleep 10 -done -[ -z "$healthy" ] && { echo "Error starting Keycloak service."; exit 1; } || echo "Waiting for Keycloak service ... done" - -rm -rf $E2E_WORKSPACE/keycloak/idp-metadata.xml -wget -O $E2E_WORKSPACE/keycloak/idp-metadata.xml http://localhost:8081/auth/realms/cbio/protocol/saml/descriptor - -docker-compose $compose_extensions pull -docker-compose $compose_extensions up -d - -# wait for up to 15m until all services are up and running -healthy= -for i in {1..30}; do - [[ $(curl -sf http://localhost:8080/api/health) ]] && { healthy=1; break; } || echo "Waiting for cBioPortal service ..." - sleep 10 -done -[ -z "$healthy" ] && { echo "Error starting cBioPortal services."; exit 1; } || echo "Waiting for cBioPortal service ... done" - -cd $PWD - -exit 0 diff --git a/end-to-end-test/local/docker_compose/test.sh b/end-to-end-test/local/docker_compose/test.sh index a2bb2bdb5cf..1d29062ad06 100755 --- a/end-to-end-test/local/docker_compose/test.sh +++ b/end-to-end-test/local/docker_compose/test.sh @@ -24,7 +24,7 @@ docker run -it --rm \ status=$? if [[ "$status" -eq 0 ]]; then - echo Succes!!!!! E2e-test test completed without errors. + echo Success!!!!! E2e-test test completed without errors. else echo Error!!!!! E2e-test test completed with errors. fi diff --git a/end-to-end-test/local/runtime-config/db_content_fingerprint.sh b/end-to-end-test/local/runtime-config/db_content_fingerprint.sh deleted file mode 100755 index 6b209199d01..00000000000 --- a/end-to-end-test/local/runtime-config/db_content_fingerprint.sh +++ /dev/null @@ -1,34 +0,0 @@ -#!/usr/bin/env bash - -set -e -set -u -set -o pipefail - -DIR=$PWD - -compose_extensions="-f docker-compose.yml" -if [ $CUSTOM_BACKEND -eq 1 ]; then - compose_extensions="$compose_extensions -f $TEST_HOME/docker_compose/cbioportal-custombranch.yml" -fi - - -CHECKSUM_ES_0=$(tar -cf - "$TEST_HOME"/test_data/study_es_0/ 2> /dev/null | shasum -a 1) -CHECKSUM_ES_0_GENESETS=$(tar -cf - "$TEST_HOME"/genesets/study_es_0* 2> /dev/null | shasum -a 1) -CHECKSUM_TEST_STUDIES=$(find "$TEST_HOME"/studies/ -type f -exec md5sum {} \; | shasum -a 1) - -cd $E2E_WORKSPACE/cbioportal-docker-compose -CHECKSUM_MIGRATION_SQL=$(docker-compose $compose_extensions run --rm --no-deps cbioportal sh -c 'shasum -a 1 /cbioportal/db-scripts/migration.sql') -CHECKSUM_SEED_URL=$(echo "$DB_SEED_URL" | shasum -a 1) -CHECKSUM_SCHEMA_URL=$(echo "$DB_CGDS_URL" | shasum -a 1) - -docker-compose down --volumes - -cd $DIR -CHECKSUM_ES_0=$(echo $CHECKSUM_ES_0 | cut -c 1-10) -CHECKSUM_ES_0_GENESETS=$(echo CHECKSUM_ES_0_GENESETS | cut -c 1-10) -CHECKSUM_TEST_STUDIES=$(echo $CHECKSUM_TEST_STUDIES | cut -c 1-10) -CHECKSUM_MIGRATION_SQL=$(echo $CHECKSUM_MIGRATION_SQL | cut -c 1-10) -CHECKSUM_SEED_URL=$(echo $CHECKSUM_SEED_URL | cut -c 1-10) -CHECKSUM_SCHEMA_URL=$(echo $CHECKSUM_SCHEMA_URL | cut -c 1-10) - -echo $CHECKSUM_ES_0$CHECKSUM_ES_0_GENESETS$CHECKSUM_TEST_STUDIES$CHECKSUM_MIGRATION_SQL$CHECKSUM_SEED_URL$CHECKSUM_SCHEMA_URL diff --git a/end-to-end-test/local/runtime-config/setup_environment.sh b/end-to-end-test/local/runtime-config/setup_environment.sh deleted file mode 100755 index 2d01fc3cbdd..00000000000 --- a/end-to-end-test/local/runtime-config/setup_environment.sh +++ /dev/null @@ -1,111 +0,0 @@ -#!/usr/bin/env bash - -set -e - -# -+-+-+-+-+-+-+ ENVIRONMENTAL VARIABLES +-+-+-+-+-+-+- - -echo export CBIOPORTAL_URL="http://localhost:8080" -echo export SCREENSHOT_DIRECTORY=./local/screenshots -echo export JUNIT_REPORT_PATH=./local/junit/ -SPEC_FILE_PATTERN=./local/specs/**/*.spec.js - - - -echo export CBIO_DB_DATA_DIR=$E2E_WORKSPACE/cbio_db_data -echo export KC_DB_DATA_DIR=$E2E_WORKSPACE/kc_db_data - -echo export DB_CGDS_URL=https://raw.githubusercontent.com/cBioPortal/cbioportal/refs/tags/v6.0.17/src/main/resources/db-scripts/cgds.sql -echo export DB_SEED_URL=https://raw.githubusercontent.com/cBioPortal/datahub/master/seedDB/seedDB_hg19_archive/seed-cbioportal_hg19_v2.12.14.sql.gz - -# -+-+-+-+-+-+-+-+-+-+-+-+-+-+-+-+-+-+-+-+-+-+-+-+-+-+- - -parse_custom_backend_var() { - # Parse BACKEND environmental variable. This must occur after PR evaluation - if [[ $BACKEND =~ (.+):(.+) ]]; then - BACKEND_PROJECT_USERNAME=${BASH_REMATCH[1]} - echo "export BACKEND_PROJECT_USERNAME=${BASH_REMATCH[1]}" - BACKEND_BRANCH=${BASH_REMATCH[2]} - echo "export BACKEND_BRANCH=${BASH_REMATCH[2]}" - else - echo "Error: could not parse BACKEND variable from custom.sh. Expected format: : (e.g. 'cbioportal:rc')" - exit 1 - fi -} - -# Check whether running in CircleCI environment -if [[ "$CIRCLECI" = true ]]; then - - if [[ "$CIRCLE_CI_LOCALDB_SPEC_PATTERN" ]]; then - SPEC_FILE_PATTERN="$CIRCLE_CI_LOCALDB_SPEC_PATTERN" - fi - # Check whether running in context of a pull request - # by extracting the pull request number - if [[ "$CIRCLE_PULL_REQUEST" =~ \/([0-9]+)$ ]] ; then - - CIRCLE_PULL_REQUEST=${CIRCLE_PULL_REQUESTS##*,} # in case there are multiple PRs take the last one - GITHUB_PR_API_PATH="${CIRCLE_PULL_REQUEST/github\.com\//api\.github\.com\/repos/}" - GITHUB_PR_API_PATH="${GITHUB_PR_API_PATH/\/pull\//\/pulls\/}" - - python3 $TEST_HOME/../shared/get_pullrequest_info.py $GITHUB_PR_API_PATH - eval $(python3 $TEST_HOME/../shared/get_pullrequest_info.py $GITHUB_PR_API_PATH) - - # Only allow committing a BACKEND variable in custom.sh if the PR is in - # draft state. We do allow setting custom.sh programmatically on CI (as - # is done in the backend repo), which is why we use `git show`. -# if git show HEAD:env/custom.sh | grep -q BACKEND && [[ $PULL_REQUEST_STATE != "draft" ]]; then -# echo "Error: BACKEND variable defined in custom.sh, but pull request state is not 'draft'" -# echo "Remove BACKEND variable from custom.sh or change the pull request into a draft pull request." -# exit 1 -# fi - - fi - - # Check whether custom BACKEND environmental var is defined (required when running outside context of a pull request on CircleCI) - # When the current branch is master or rc continue using corresponding master or rc backend, respectively. - if [[ -z $BACKEND ]]; then - if [[ -z $CIRCLE_PULL_REQUEST ]]; then - if [[ "$CIRCLE_BRANCH" = "master" ]] || [[ "$CIRCLE_BRANCH" = "rc" ]] || [[ "$CIRCLE_BRANCH" == "release-"* ]]; then - BACKEND_BRANCH="$CIRCLE_BRANCH" - elif [[ "$MANUAL_TRIGGER_BRANCH_ENV" ]]; then - BACKEND_BRANCH="$MANUAL_TRIGGER_BRANCH_ENV" - else - echo Error: BACKEND environmental variable not set in /env/custom.sh for this feature branch. This is required when running outside context of a pull request on CircleCI. - exit 1 - fi - BACKEND_PROJECT_USERNAME="cbioportal" - echo "export BACKEND_PROJECT_USERNAME=$BACKEND_PROJECT_USERNAME" - echo "export BACKEND_BRANCH=$BACKEND_BRANCH" - fi - else - parse_custom_backend_var - fi - - echo export FRONTEND_SHA1=$CIRCLE_SHA1 - echo export FRONTEND_SHA1_SHORT=$(echo $CIRCLE_SHA1 | awk '{print substr($0,0,10)}') - echo export FRONTEND_PROJECT_USERNAME=$CIRCLE_PROJECT_USERNAME - echo export FRONTEND_GROUPID=com.github.$CIRCLE_PROJECT_USERNAME - -else - # When not running in CircleCI environment, check whether custom BACKEND environmental var is defined (required when running outside CircleCI context) - if [[ -z $BACKEND ]]; then - echo Error: BACKEND environmental variable not set in /env/custom.sh. This is required when running outside the CircleCI environment. - exit 1 - else - parse_custom_backend_var - fi - - FRONTEND_SHA1=$(git rev-parse HEAD 2> /dev/null | sed "s/\(.*\)/\1/") - echo export FRONTEND_SHA1=$FRONTEND_SHA1 - echo export FRONTEND_SHA1_SHORT=$(echo $FRONTEND_SHA1 | awk '{print substr($0,0,10)}') - - FRONTEND_PROJECT_USERNAME=$(git config --local remote.origin.url|sed -n "s#.*/\([^.]*\)/.*#\1#p") - echo export FRONTEND_PROJECT_USERNAME=$FRONTEND_PROJECT_USERNAME - echo export FRONTEND_GROUPID=com.github.$FRONTEND_PROJECT_USERNAME -fi - -echo export SPEC_FILE_PATTERN=$SPEC_FILE_PATTERN - -# Evaluate whether a custom backend image should be built -# rc, master and tagged releases (e.g. 3.0.1) of cbioportal are available as prebuilt images -# update the reference to the corresponding image name when prebuilt image exists -(([[ $BACKEND_PROJECT_USERNAME == "cbioportal" ]] && ( [[ $BACKEND_BRANCH == "rc" ]] || [[ $BACKEND_BRANCH == "master" ]] || [[ $BACKEND_BRANCH =~ [0-9.]+ ]] )) && echo export CUSTOM_BACKEND=0 && echo export DOCKER_IMAGE_CBIOPORTAL="cbioportal/cbioportal:${BACKEND_BRANCH}") || echo export CUSTOM_BACKEND=1 diff --git a/end-to-end-test/local/studies/ascn-test-study/ascn_test_study_data_cna_hg19.seg b/end-to-end-test/local/studies/ascn-test-study/ascn_test_study_data_cna_hg19.seg deleted file mode 100644 index 232ca1e3883..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/ascn_test_study_data_cna_hg19.seg +++ /dev/null @@ -1,240 +0,0 @@ -ID chrom loc.start loc.end num.mark seg.mean -FAKE_P001_S2 1 131450 221346000 2157 -0.3340 -FAKE_P001_S2 1 222641468 224170950 26 -1.9021 -FAKE_P001_S2 1 226064426 247295300 318 -0.4989 -FAKE_P001_S2 2 3862500 39212637 312 0.1666 -FAKE_P001_S2 2 39212800 75175600 452 -0.0008 -FAKE_P001_S2 2 76787826 242982437 1194 0.0535 -FAKE_P001_S2 3 414891 10183150 27 -0.7890 -FAKE_P001_S2 3 10183350 194238700 1904 -0.3191 -FAKE_P001_S2 3 194711896 197916800 159 -0.9094 -FAKE_P001_S2 4 1402525 190662288 1135 -0.3282 -FAKE_P001_S2 5 217988 62836726 614 -0.3405 -FAKE_P001_S2 5 62837000 72743800 62 -0.6818 -FAKE_P001_S2 5 75111183 180722000 889 -0.3196 -FAKE_P001_S2 6 392866 26172300 191 -0.4534 -FAKE_P001_S2 6 26172467 30667938 200 -1.3821 -FAKE_P001_S2 6 30668226 170871300 1201 -0.3438 -FAKE_P001_S2 7 330745 55706275 547 -0.5337 -FAKE_P001_S2 7 55804561 66761640 94 -1.7600 -FAKE_P001_S2 7 66761963 135336256 563 -0.5264 -FAKE_P001_S2 7 135681600 153622306 442 -0.1262 -FAKE_P001_S2 7 153622650 158628150 24 -0.6726 -FAKE_P001_S2 8 564944 146186668 961 -0.0607 -FAKE_P001_S2 9 421700 37034300 518 -0.6439 -FAKE_P001_S2 9 44131135 140406461 770 -0.7108 -FAKE_P001_S2 10 1509750 135181774 801 -0.4233 -FAKE_P001_S2 11 123850 71991850 435 -0.4309 -FAKE_P001_S2 11 71992100 106361902 356 -0.6600 -FAKE_P001_S2 11 106694702 133495950 520 -0.4207 -FAKE_P001_S2 12 394200 133264332 1338 -0.2515 -FAKE_P001_S2 13 19600069 112722650 834 -0.3838 -FAKE_P001_S2 14 19486000 105906100 536 -0.6375 -FAKE_P001_S2 15 20488400 23699617 77 -0.9936 -FAKE_P001_S2 15 26216050 101094335 857 -0.3079 -FAKE_P001_S2 16 114731 34467450 650 -0.3670 -FAKE_P001_S2 16 46387395 46408706 29 3.2591 -FAKE_P001_S2 16 50783300 90242200 661 -0.3476 -FAKE_P001_S2 17 114550 80807828 1822 -0.2988 -FAKE_P001_S2 18 724150 74463750 459 -0.4269 -FAKE_P001_S2 19 1206600 36229639 1107 -0.3378 -FAKE_P001_S2 19 36229700 59096700 346 -0.8340 -FAKE_P001_S2 20 345864 62923750 740 -0.3122 -FAKE_P001_S2 21 10995535 46253150 328 -0.5189 -FAKE_P001_S2 22 16345750 50973133 502 -0.3726 -FAKE_P001_S2 23 451100 152864650 1067 -0.0680 -FAKE_P001_S3 1 131450 247295250 2511 -0.2236 -FAKE_P001_S3 2 3862467 36353139 304 0.2104 -FAKE_P001_S3 2 36353454 69741801 451 -0.0921 -FAKE_P001_S3 2 71183100 242982400 1204 0.2545 -FAKE_P001_S3 3 414891 197916800 2095 -0.2131 -FAKE_P001_S3 4 1402525 89984725 623 -0.2225 -FAKE_P001_S3 4 94653694 99850650 30 -0.9111 -FAKE_P001_S3 4 103804250 190662326 484 -0.1913 -FAKE_P001_S3 5 217988 62836950 615 -0.2105 -FAKE_P001_S3 5 67151500 68390400 54 -0.7689 -FAKE_P001_S3 5 72671550 180722000 897 -0.1708 -FAKE_P001_S3 6 392700 170871300 1599 -0.2511 -FAKE_P001_S3 7 330555 63230350 614 -0.4941 -FAKE_P001_S3 7 63230769 158628217 1061 -0.0399 -FAKE_P001_S3 8 564883 11587450 51 0.2213 -FAKE_P001_S3 8 11856583 41791000 262 -0.1366 -FAKE_P001_S3 8 43828046 146186674 647 0.2109 -FAKE_P001_S3 9 421792 18995323 311 -0.8242 -FAKE_P001_S3 9 18995450 22012422 44 -2.0315 -FAKE_P001_S3 9 26077400 140406350 935 -0.9512 -FAKE_P001_S3 10 1509750 135181776 802 -0.2515 -FAKE_P001_S3 11 123850 76059229 449 -0.2728 -FAKE_P001_S3 11 76059500 121232250 790 -0.8069 -FAKE_P001_S3 11 121232400 133496004 76 -0.1411 -FAKE_P001_S3 12 394200 133264332 1342 -0.1899 -FAKE_P001_S3 13 19600069 112722650 836 -0.5610 -FAKE_P001_S3 14 19486000 105906100 534 -0.7952 -FAKE_P001_S3 15 20488300 101094335 933 -0.2186 -FAKE_P001_S3 16 114913 90242200 1345 -0.2255 -FAKE_P001_S3 17 114500 80807927 1823 -0.1945 -FAKE_P001_S3 18 724000 74463600 462 -0.1986 -FAKE_P001_S3 19 1206596 36229639 1110 -0.2502 -FAKE_P001_S3 19 36229755 59096700 346 -0.9885 -FAKE_P001_S3 20 345864 62923750 742 -0.2100 -FAKE_P001_S3 21 10995575 46253150 328 -0.3029 -FAKE_P001_S3 22 16345900 50973133 503 -0.2277 -FAKE_P001_S3 23 450950 152864550 1066 -0.0393 -FAKE_P001_S4 1 131400 247295250 2484 -0.1628 -FAKE_P001_S4 2 3862500 25472784 110 0.1330 -FAKE_P001_S4 2 25472944 48018410 450 -0.2892 -FAKE_P001_S4 2 48022994 242982437 1380 0.0163 -FAKE_P001_S4 3 414891 197916800 2067 -0.1631 -FAKE_P001_S4 4 1402550 190662319 1122 -0.0979 -FAKE_P001_S4 5 217988 31528784 330 -0.3852 -FAKE_P001_S4 5 31529107 145124092 802 0.0470 -FAKE_P001_S4 5 147496000 180722000 424 -0.2735 -FAKE_P001_S4 6 392750 31240041 427 -0.1368 -FAKE_P001_S4 6 31240293 32821950 140 -0.6306 -FAKE_P001_S4 6 32876982 170871300 1012 -0.1055 -FAKE_P001_S4 7 330745 2883594 19 0.3142 -FAKE_P001_S4 7 2945950 6781627 180 -0.5104 -FAKE_P001_S4 7 6781850 158628200 1451 -0.0818 -FAKE_P001_S4 8 564840 25688548 116 0.0363 -FAKE_P001_S4 8 29194050 38287900 171 -0.4880 -FAKE_P001_S4 8 38297650 146186700 661 -0.0711 -FAKE_P001_S4 9 421800 140406450 1271 -0.3289 -FAKE_P001_S4 10 1509658 135181664 794 -0.1191 -FAKE_P001_S4 11 123950 133495905 1299 -0.2157 -FAKE_P001_S4 12 394421 133264188 1328 -0.2056 -FAKE_P001_S4 13 19600200 112722550 824 -0.1579 -FAKE_P001_S4 14 19485950 105906250 525 -0.1440 -FAKE_P001_S4 15 20488450 101094476 918 -0.1698 -FAKE_P001_S4 16 114800 34417865 633 -0.4192 -FAKE_P001_S4 16 34467200 46408706 31 1.0882 -FAKE_P001_S4 16 50783350 90242200 652 -0.1757 -FAKE_P001_S4 17 114324 80807828 1800 -0.2421 -FAKE_P001_S4 18 724050 74463749 456 -0.0049 -FAKE_P001_S4 19 1206596 59096700 1413 -0.4761 -FAKE_P001_S4 20 345864 62923800 737 -0.1662 -FAKE_P001_S4 21 10995852 46253150 323 -0.2116 -FAKE_P001_S4 22 16345900 50973085 499 -0.2170 -FAKE_P001_S4 23 451000 152864650 1055 -0.1907 -FAKE_P001_S5 1 131350 220441250 2149 -0.4630 -FAKE_P001_S5 1 220441500 224170979 30 -2.0618 -FAKE_P001_S5 1 226064600 247295300 319 -0.4572 -FAKE_P001_S5 2 3862467 36353261 304 0.0301 -FAKE_P001_S5 2 36353454 71183682 455 -0.2911 -FAKE_P001_S5 2 71435350 242982437 1199 -0.0045 -FAKE_P001_S5 3 414891 197916800 2087 -0.4394 -FAKE_P001_S5 4 1402400 106197700 710 -0.3979 -FAKE_P001_S5 4 106197974 142949701 107 -1.1345 -FAKE_P001_S5 4 142949950 190662299 316 -0.2584 -FAKE_P001_S5 5 217988 62836950 615 -0.3603 -FAKE_P001_S5 5 67151346 75926812 64 -0.9731 -FAKE_P001_S5 5 75927274 180722050 881 -0.4314 -FAKE_P001_S5 6 392696 26172200 190 -0.5429 -FAKE_P001_S5 6 26172467 30667850 197 -1.4069 -FAKE_P001_S5 6 30668300 170871300 1200 -0.4704 -FAKE_P001_S5 7 330555 55273457 543 -0.5812 -FAKE_P001_S5 7 55273550 66760400 93 -1.6944 -FAKE_P001_S5 7 66760635 158628200 1033 -0.3784 -FAKE_P001_S5 8 564944 55363754 326 -0.4524 -FAKE_P001_S5 8 55364000 143719983 612 -0.0461 -FAKE_P001_S5 8 144077544 146186668 20 -0.9781 -FAKE_P001_S5 9 421768 18995406 306 -1.0437 -FAKE_P001_S5 9 20776450 27109150 45 -2.3791 -FAKE_P001_S5 9 27109500 37034103 155 -1.1232 -FAKE_P001_S5 9 44131135 139820750 763 -1.2859 -FAKE_P001_S5 10 1509750 135181750 799 -0.5199 -FAKE_P001_S5 11 123900 71991687 434 -0.5398 -FAKE_P001_S5 11 71992084 120491250 794 -1.0122 -FAKE_P001_S5 11 121232296 133496000 77 -0.4858 -FAKE_P001_S5 12 394213 133264332 1337 -0.3785 -FAKE_P001_S5 13 19600126 112722600 834 -0.6211 -FAKE_P001_S5 14 19486250 105906250 529 -1.0947 -FAKE_P001_S5 15 20488400 101094476 933 -0.4532 -FAKE_P001_S5 16 114933 34467250 648 -0.4505 -FAKE_P001_S5 16 46387400 46408706 29 3.1865 -FAKE_P001_S5 16 50783300 90242200 665 -0.4417 -FAKE_P001_S5 17 114530 80807912 1821 -0.4103 -FAKE_P001_S5 18 724000 74463650 460 -0.4772 -FAKE_P001_S5 19 1206700 36229755 1109 -0.4357 -FAKE_P001_S5 19 36833464 59096750 341 -1.2524 -FAKE_P001_S5 20 345864 62923800 741 -0.3777 -FAKE_P001_S5 21 10995535 46253300 328 -0.5384 -FAKE_P001_S5 22 16345800 50973133 501 -0.4544 -FAKE_P001_S5 23 451000 39911200 123 -0.3380 -FAKE_P001_S5 23 39911400 71788885 498 0.0610 -FAKE_P001_S5 23 71789100 152864600 444 -0.3133 -FAKE_P001_S6 1 131500 247295200 2511 -0.3881 -FAKE_P001_S6 2 3862450 29940600 294 0.0143 -FAKE_P001_S6 2 29940921 71435350 466 -0.2708 -FAKE_P001_S6 2 72126350 242982400 1199 0.1393 -FAKE_P001_S6 3 414891 197916800 2094 -0.3631 -FAKE_P001_S6 4 1402594 190662288 1135 -0.3499 -FAKE_P001_S6 5 217988 57754808 594 -0.2980 -FAKE_P001_S6 5 57755050 79967900 113 -0.8251 -FAKE_P001_S6 5 79968241 180722000 859 -0.3061 -FAKE_P001_S6 6 392783 170871300 1597 -0.3426 -FAKE_P001_S6 7 330700 158628217 1673 -0.2856 -FAKE_P001_S6 8 564944 12586261 56 0.0243 -FAKE_P001_S6 8 12586593 41791015 258 -0.3208 -FAKE_P001_S6 8 43828046 146186692 646 0.1191 -FAKE_P001_S6 9 421768 18995379 311 -0.8638 -FAKE_P001_S6 9 20776484 22012422 43 -1.8816 -FAKE_P001_S6 9 26077500 27220272 88 -0.7752 -FAKE_P001_S6 9 27220550 140406350 844 -0.9909 -FAKE_P001_S6 10 1509800 135181630 802 -0.4182 -FAKE_P001_S6 11 123900 74790200 445 -0.4552 -FAKE_P001_S6 11 74790400 121232100 789 -0.7177 -FAKE_P001_S6 11 121232350 133496004 76 -0.2076 -FAKE_P001_S6 12 394250 133264332 1342 -0.2468 -FAKE_P001_S6 13 19600126 112722700 834 -0.7743 -FAKE_P001_S6 14 19486000 105906050 534 -0.8490 -FAKE_P001_S6 15 20488250 101094335 933 -0.3441 -FAKE_P001_S6 16 114727 34467500 650 -0.5065 -FAKE_P001_S6 16 46387397 46408706 29 0.6443 -FAKE_P001_S6 16 50783350 90242200 664 -0.4356 -FAKE_P001_S6 17 114400 80807897 1823 -0.4005 -FAKE_P001_S6 18 724107 74463600 462 -0.3526 -FAKE_P001_S6 19 1206600 36229600 1109 -0.4905 -FAKE_P001_S6 19 36229850 59096700 347 -1.0935 -FAKE_P001_S6 20 345864 62923800 742 -0.3527 -FAKE_P001_S6 21 10995575 46253250 328 -0.4249 -FAKE_P001_S6 22 16345938 50973085 503 -0.4012 -FAKE_P001_S6 23 450950 152864600 1067 -0.0636 -FAKE_P001_S7 1 131350 221345796 2159 -0.3894 -FAKE_P001_S7 1 221346050 224170950 27 -1.9645 -FAKE_P001_S7 1 226064450 247295350 318 -0.4560 -FAKE_P001_S7 2 3862550 242982400 1959 -0.3671 -FAKE_P001_S7 3 414891 10187982 35 -0.7602 -FAKE_P001_S7 3 10188229 194238717 1895 -0.3091 -FAKE_P001_S7 3 194711850 197916800 159 -0.9004 -FAKE_P001_S7 4 1402580 106197850 709 -0.3438 -FAKE_P001_S7 4 106197950 142737548 106 -1.2143 -FAKE_P001_S7 4 142949750 190662299 318 -0.1790 -FAKE_P001_S7 5 217988 180722100 1564 -0.3240 -FAKE_P001_S7 6 392866 26172300 193 -0.4888 -FAKE_P001_S7 6 26172467 30460500 198 -1.3912 -FAKE_P001_S7 6 30668071 55672900 340 -0.4405 -FAKE_P001_S7 6 58776622 58779088 7 3.0639 -FAKE_P001_S7 6 64286500 170871300 857 -0.3159 -FAKE_P001_S7 7 330550 55273306 543 -0.4693 -FAKE_P001_S7 7 55273550 66761667 99 -1.5772 -FAKE_P001_S7 7 66762080 158628050 1029 -0.3193 -FAKE_P001_S7 8 564883 146186750 960 -0.4127 -FAKE_P001_S7 9 421600 139820800 1285 -0.2825 -FAKE_P001_S7 10 1509770 135181631 800 -0.4850 -FAKE_P001_S7 11 123850 133495905 1313 -0.3496 -FAKE_P001_S7 12 394650 133264332 1339 -0.2729 -FAKE_P001_S7 13 19600069 112722600 836 -0.3231 -FAKE_P001_S7 14 19485950 105906200 536 -0.3680 -FAKE_P001_S7 15 20488350 101094335 934 -0.4018 -FAKE_P001_S7 16 114937 34467500 650 -0.3702 -FAKE_P001_S7 16 46387437 46408706 29 3.1368 -FAKE_P001_S7 16 50783306 90242200 660 -0.3016 -FAKE_P001_S7 17 114518 80807912 1820 -0.3283 -FAKE_P001_S7 18 724224 74463692 462 -0.4292 -FAKE_P001_S7 19 1206550 59096700 1455 -0.3923 -FAKE_P001_S7 20 345864 62923800 741 -0.2813 -FAKE_P001_S7 21 10995535 46253250 328 -0.4404 -FAKE_P001_S7 22 16345855 50973133 502 -0.4264 -FAKE_P001_S7 23 451050 32224384 122 -0.1871 -FAKE_P001_S7 23 39911300 70357900 487 0.0957 -FAKE_P001_S7 23 70358205 152864500 457 -0.2397 diff --git a/end-to-end-test/local/studies/ascn-test-study/ascn_test_study_meta_cna_hg19_seg.txt b/end-to-end-test/local/studies/ascn-test-study/ascn_test_study_meta_cna_hg19_seg.txt deleted file mode 100644 index fd077ebbcfd..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/ascn_test_study_meta_cna_hg19_seg.txt +++ /dev/null @@ -1,6 +0,0 @@ -cancer_study_identifier: ascn_test_study -data_filename: ascn_test_study_data_cna_hg19.seg -datatype: SEG -description: Segmented Data -genetic_alteration_type: COPY_NUMBER_ALTERATION -reference_genome_id: hg19 diff --git a/end-to-end-test/local/studies/ascn-test-study/case_lists/cases_all.txt b/end-to-end-test/local/studies/ascn-test-study/case_lists/cases_all.txt deleted file mode 100644 index fecf8b289e7..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/case_lists/cases_all.txt +++ /dev/null @@ -1,6 +0,0 @@ -cancer_study_identifier: ascn_test_study -stable_id: ascn_test_study_all -case_list_category: all_cases_in_study -case_list_name: All Tumors -case_list_description: All tumor samples -case_list_ids: FAKE_P001_S2 FAKE_P001_S3 FAKE_P001_S4 FAKE_P001_S5 FAKE_P001_S6 FAKE_P001_S7 diff --git a/end-to-end-test/local/studies/ascn-test-study/case_lists/cases_cna.txt b/end-to-end-test/local/studies/ascn-test-study/case_lists/cases_cna.txt deleted file mode 100644 index 8d1b96933e0..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/case_lists/cases_cna.txt +++ /dev/null @@ -1,6 +0,0 @@ -cancer_study_identifier: ascn_test_study -stable_id: ascn_test_study_cna -case_list_category: all_cases_with_cna_data -case_list_name: Tumors CNA -case_list_description: All tumors with CNA data -case_list_ids: FAKE_P001_S2 FAKE_P001_S3 FAKE_P001_S4 FAKE_P001_S5 FAKE_P001_S6 FAKE_P001_S7 diff --git a/end-to-end-test/local/studies/ascn-test-study/case_lists/cases_cnaseq.txt b/end-to-end-test/local/studies/ascn-test-study/case_lists/cases_cnaseq.txt deleted file mode 100644 index 3f08490384e..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/case_lists/cases_cnaseq.txt +++ /dev/null @@ -1,6 +0,0 @@ -cancer_study_identifier: ascn_test_study -stable_id: ascn_test_study_cnaseq -case_list_category: all_cases_with_mutation_and_cna_data -case_list_name: Tumors with sequencing and CNA data -case_list_description: All tumor samples that have CNA and sequencing data -case_list_ids: FAKE_P001_S2 FAKE_P001_S3 FAKE_P001_S4 FAKE_P001_S5 FAKE_P001_S6 diff --git a/end-to-end-test/local/studies/ascn-test-study/case_lists/cases_sequenced.txt b/end-to-end-test/local/studies/ascn-test-study/case_lists/cases_sequenced.txt deleted file mode 100644 index 5ea1a7d9e5e..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/case_lists/cases_sequenced.txt +++ /dev/null @@ -1,6 +0,0 @@ -cancer_study_identifier: ascn_test_study -stable_id: ascn_test_study_sequenced -case_list_category: all_cases_with_mutation_data -case_list_name: Sequenced Tumors -case_list_description: All sequenced tumors -case_list_ids: FAKE_P001_S2 FAKE_P001_S3 FAKE_P001_S4 FAKE_P001_S5 FAKE_P001_S6 diff --git a/end-to-end-test/local/studies/ascn-test-study/data_CNA.ascna.txt b/end-to-end-test/local/studies/ascn-test-study/data_CNA.ascna.txt deleted file mode 100644 index 542af8f400e..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/data_CNA.ascna.txt +++ /dev/null @@ -1,469 +0,0 @@ -Hugo_Symbol FAKE_P001_S2 FAKE_P001_S3 FAKE_P001_S4 FAKE_P001_S5 FAKE_P001_S6 FAKE_P001_S7 -ABL1 1;0 1;0 0;0 1;0 1;0 2;1 -ACVR1 3;1 3;1 3;1 3;1 3;1 2;1 -AGO2 3;1 3;1 2;1 3;1 3;1 2;1 -AKT1 1;0 1;0 2;1 1;0 1;0 2;1 -AKT2 1;0 1;0 0;0 1;0 1;0 2;1 -AKT3 0;0 2;1 2;1 2;1 2;1 0;0 -ALK 3;1 3;1 1;0 3;1 2;0 2;1 -ALOX12B 2;1 2;1 2;1 2;1 2;1 2;1 -AMER1 2;0 1;0 1;0 2;0 2;0 2;0 -ANKRD11 2;1 2;1 2;1 2;1 2;1 2;1 -APC 2;1 2;1 3;1 2;1 2;1 2;1 -AR 2;0 1;0 1;0 2;0 2;0 2;0 -ARAF 2;0 1;0 1;0 2;0 2;0 2;0 -ARID1A 2;1 2;1 2;1 2;1 2;1 2;1 -ARID1B 2;1 2;1 2;1 2;1 2;1 2;1 -ARID2 2;1 2;1 2;1 2;1 2;1 2;1 -ARID5B 2;1 2;1 2;1 2;1 2;1 0;0 -ASXL1 2;1 2;1 2;1 2;1 2;1 2;1 -ASXL2 3;1 3;1 1;0 3;1 3;1 2;1 -ATM 2;1 1;0 2;1 1;0 1;0 2;1 -ATR 2;1 2;1 2;1 2;1 2;1 2;1 -ATRX 2;0 1;0 1;0 1;0 2;0 1;0 -AURKA 2;1 2;1 2;1 2;1 2;1 2;1 -AURKB 2;1 2;1 2;1 2;1 2;1 2;1 -AXIN1 2;1 2;1 0;0 2;1 0;0 2;1 -AXIN2 2;1 2;1 2;1 2;1 2;1 2;1 -AXL 1;0 1;0 0;0 1;0 1;0 2;1 -B2M 2;1 2;1 2;1 2;1 2;1 2;1 -BABAM1 2;1 2;1 0;0 2;1 0;0 2;1 -BAP1 2;1 2;1 2;1 2;1 2;1 2;1 -BARD1 3;1 3;1 3;1 3;1 3;1 2;1 -BBC3 1;0 1;0 0;0 1;0 1;0 2;1 -BCL10 2;1 2;1 2;1 2;1 2;1 2;1 -BCL2 2;1 2;1 3;1 2;1 2;1 2;1 -BCL2L1 2;1 2;1 2;1 2;1 2;1 2;1 -BCL2L11 3;1 3;1 3;1 3;1 3;1 2;1 -BCL6 2;1 2;1 2;1 2;1 2;1 2;1 -BCOR 2;0 1;0 1;0 2;0 2;0 2;0 -BIRC3 1;0 1;0 2;1 1;0 1;0 2;1 -BLM 2;1 2;1 2;1 2;1 2;1 2;1 -BMPR1A 2;1 2;1 2;1 2;1 2;1 0;0 -BRAF 4;2 3;1 2;1 2;1 2;1 2;1 -BRCA1 2;1 2;1 2;1 2;1 2;1 2;1 -BRCA2 2;1 1;0 2;1 1;0 0;0 2;1 -BRD4 2;1 2;1 0;0 2;1 0;0 2;1 -BRIP1 2;1 2;1 2;1 2;1 2;1 2;1 -BTK 2;0 1;0 1;0 1;0 2;0 1;0 -CALR 2;1 2;1 0;0 2;1 0;0 2;1 -CARD11 0;0 1;0 0;0 1;0 2;1 0;0 -CARM1 2;1 2;1 0;0 2;1 0;0 2;1 -CASP8 3;1 3;1 3;1 3;1 3;1 2;1 -CBFB 2;1 2;1 2;1 2;1 2;1 2;1 -CBL 2;1 1;0 2;1 1;0 1;0 2;1 -CCND1 2;1 2;1 2;1 2;1 2;1 2;1 -CCND2 2;1 2;1 2;1 2;1 2;1 2;1 -CCND3 2;1 2;1 2;1 2;1 2;1 2;1 -CCNE1 2;1 2;1 0;0 2;1 0;0 2;1 -CD274 1;0 1;0 0;0 1;0 1;0 2;1 -CD276 2;1 2;1 2;1 2;1 2;1 2;1 -CD79A 1;0 1;0 0;0 1;0 1;0 2;1 -CD79B 2;1 2;1 2;1 2;1 2;1 2;1 -CDC42 2;1 2;1 2;1 2;1 2;1 2;1 -CDC73 2;1 2;1 2;1 2;1 2;1 2;1 -CDH1 2;1 2;1 2;1 2;1 2;1 2;1 -CDK12 2;1 2;1 2;1 2;1 2;1 2;1 -CDK4 2;1 2;1 2;1 2;1 2;1 2;1 -CDK6 0;0 3;1 2;1 2;1 2;1 2;1 -CDK8 2;1 1;0 2;1 1;0 0;0 2;1 -CDKN1A 2;1 2;1 2;1 2;1 2;1 2;1 -CDKN1B 2;1 2;1 2;1 2;1 2;1 2;1 -CDKN2A 1;0 0;0 0;0 0;0 0;0 2;1 -CDKN2B 1;0 0;0 0;0 0;0 0;0 2;1 -CDKN2C 2;1 2;1 2;1 2;1 2;1 2;1 -CEBPA 2;1 2;1 0;0 2;1 0;0 2;1 -CENPA 3;1 3;1 1;0 3;1 3;1 2;1 -CHEK1 2;1 2;NA 2;1 2;NA 2;NA 2;1 -CHEK2 2;1 2;1 2;1 2;1 2;1 2;1 -CIC 1;0 1;0 0;0 1;0 1;0 2;1 -CREBBP 2;1 2;1 0;0 2;1 0;0 2;1 -CRKL 2;1 2;1 2;1 2;1 2;1 2;1 -CRLF2 2;0 1;0 1;0 1;0 2;0 2;0 -CSDE1 2;1 2;1 2;1 2;1 2;1 2;1 -CSF1R 2;1 2;1 1;0 2;1 2;1 2;1 -CSF3R 2;1 2;1 2;1 2;1 2;1 2;1 -CTCF 2;1 2;1 2;1 2;1 2;1 2;1 -CTLA4 3;1 3;1 3;1 3;1 3;1 2;1 -CTNNB1 2;1 2;1 2;1 2;1 2;1 2;1 -CUL3 3;1 3;1 3;1 3;1 3;1 2;1 -CXCR4 3;1 3;1 3;1 3;1 3;1 2;1 -CYLD 2;1 2;1 2;1 2;1 2;1 2;1 -CYSLTR2 2;1 1;0 2;1 1;0 0;0 2;1 -DAXX 2;1 2;1 2;1 2;1 2;1 2;1 -DCUN1D1 2;1 2;1 2;1 2;1 2;1 2;1 -DDR2 2;1 2;1 2;1 2;1 2;1 2;1 -DICER1 1;0 1;0 2;1 1;0 1;0 2;1 -DIS3 2;1 1;0 2;1 1;0 0;0 2;1 -DNAJB1 2;1 2;1 0;0 2;1 0;0 2;1 -DNMT1 2;1 2;1 0;0 2;1 0;0 2;1 -DNMT3A 3;1 3;1 1;0 3;1 3;1 2;1 -DNMT3B 2;1 2;1 2;1 2;1 2;1 2;1 -DOT1L 2;1 2;1 0;0 2;1 0;0 2;1 -DROSHA 2;1 2;1 0;0 2;1 2;1 2;1 -DUSP4 3;1 2;1 1;0 2;1 2;1 2;1 -E2F3 2;1 2;1 2;1 2;1 2;1 0;0 -EED 1;0 1;0 2;1 1;0 1;0 2;1 -EGFL7 1;0 1;0 0;0 1;0 1;0 2;1 -EGFR 0;0 1;0 2;1 1;0 2;1 0;0 -EIF1AX 2;0 1;0 1;0 1;0 2;0 2;0 -EIF4A2 2;1 2;1 2;1 2;1 2;1 2;1 -EIF4E 2;1 1;0 2;1 2;1 2;1 2;1 -ELF3 2;1 2;1 2;1 2;1 2;1 2;1 -EP300 2;1 2;1 2;1 2;1 2;1 2;1 -EPAS1 3;0 3;0 1;0 3;0 2;0 2;1 -EPCAM 3;0 3;0 1;0 3;0 2;0 2;1 -EPHA3 2;1 2;1 2;1 2;1 2;1 2;1 -EPHA5 2;1 2;1 2;1 2;1 2;1 2;1 -EPHA7 2;1 2;1 2;1 2;1 2;1 2;1 -EPHB1 2;1 2;1 2;1 2;1 2;1 2;1 -ERBB2 2;1 2;1 2;1 2;1 2;1 2;1 -ERBB3 2;1 2;1 2;1 2;1 2;1 2;1 -ERBB4 3;1 3;1 3;1 3;1 3;1 2;1 -ERCC2 1;0 1;0 0;0 1;0 1;0 2;1 -ERCC3 3;1 3;1 3;1 3;1 3;1 2;1 -ERCC4 2;1 2;1 0;0 2;1 0;0 2;1 -ERCC5 2;1 1;0 2;1 1;0 0;0 2;1 -ERF 1;0 1;0 0;0 1;0 1;0 2;1 -ERG 0;0 2;1 2;1 2;1 2;1 2;1 -ERRFI1 2;1 2;1 2;1 2;1 2;1 2;1 -ESR1 2;1 2;1 2;1 2;1 2;1 2;1 -ETV1 0;0 1;0 2;1 1;0 2;1 0;0 -ETV6 2;1 2;1 2;1 2;1 2;1 2;1 -EZH1 2;1 2;1 2;1 2;1 2;1 2;1 -EZH2 4;2 3;1 2;1 2;1 2;1 2;1 -FAM175A 2;1 2;1 2;1 2;1 2;1 2;1 -FAM46C 2;1 2;1 2;1 2;1 2;1 2;1 -FAM58A 2;0 1;0 1;0 1;0 2;0 1;0 -FANCA 2;1 2;1 2;1 2;1 2;1 2;1 -FANCC 1;0 1;0 0;0 1;0 1;0 2;1 -FAT1 2;1 2;1 2;1 3;1 2;1 3;1 -FBXW7 2;1 2;1 2;1 3;1 2;1 3;1 -FGF19 2;1 2;1 2;1 2;1 2;1 2;1 -FGF3 2;1 2;1 2;1 2;1 2;1 2;1 -FGF4 2;1 2;1 2;1 2;1 2;1 2;1 -FGFR1 3;1 2;1 1;0 2;1 2;1 2;1 -FGFR2 2;1 2;1 2;1 2;1 2;1 0;0 -FGFR3 2;1 2;1 2;1 2;1 2;1 2;1 -FGFR4 2;1 2;1 1;0 2;1 2;1 2;1 -FH 0;0 2;1 2;1 2;1 2;1 0;0 -FLCN 2;1 2;1 2;1 2;1 2;1 2;1 -FLT1 2;1 1;0 2;1 1;0 0;0 2;1 -FLT3 2;1 1;0 2;1 1;0 0;0 2;1 -FLT4 2;1 2;1 1;0 2;1 2;1 2;1 -FOXA1 1;0 1;0 2;1 1;0 1;0 2;1 -FOXL2 2;1 2;1 2;1 2;1 2;1 2;1 -FOXO1 2;1 1;0 2;1 1;0 0;0 2;1 -FOXP1 2;1 2;1 2;1 2;1 2;1 2;1 -FUBP1 2;1 2;1 2;1 2;1 2;1 2;1 -FYN 2;1 2;1 2;1 2;1 2;1 2;1 -GATA1 2;0 1;0 1;0 2;0 2;0 2;0 -GATA2 2;1 2;1 2;1 2;1 2;1 2;1 -GATA3 2;1 2;1 2;1 2;1 2;1 0;0 -GLI1 2;1 2;1 2;1 2;1 2;1 2;1 -GNA11 2;1 2;1 0;0 2;1 0;0 2;1 -GNAQ 1;0 1;0 0;0 1;0 1;0 2;1 -GNAS 2;1 2;1 2;1 2;1 2;1 2;1 -GPS2 2;1 2;1 2;1 2;1 2;1 2;1 -GREM1 2;1 2;1 2;1 2;1 2;1 2;1 -GRIN2A 2;1 2;1 0;0 2;1 0;0 2;1 -GSK3B 2;1 2;1 2;1 2;1 2;1 2;1 -H3F3A 0;0 2;1 2;1 2;1 2;1 0;0 -H3F3B 2;1 2;1 2;1 2;1 2;1 2;1 -H3F3C 2;1 2;1 2;1 2;1 2;1 2;1 -HGF 0;0 3;1 2;1 2;1 2;1 2;1 -HIST1H1C 2;1 2;1 2;1 2;1 2;1 0;0 -HIST1H2BD 2;1 2;1 2;1 2;1 2;1 0;0 -HIST1H3A 2;1 2;1 2;1 2;1 2;1 0;0 -HIST1H3B 2;1 2;1 2;1 2;1 2;1 0;0 -HIST1H3C 2;1 2;1 2;1 2;1 2;1 0;0 -HIST1H3D 0;0 2;1 2;1 0;0 2;1 0;0 -HIST1H3E 0;0 2;1 2;1 0;0 2;1 0;0 -HIST1H3F 0;0 2;1 2;1 0;0 2;1 0;0 -HIST1H3G 0;0 2;1 2;1 0;0 2;1 0;0 -HIST1H3H 0;0 2;1 2;1 0;0 2;1 0;0 -HIST1H3I 0;0 2;1 2;1 0;0 2;1 0;0 -HIST1H3J 0;0 2;1 2;1 0;0 2;1 0;0 -HIST2H3C 2;1 2;1 2;1 2;1 2;1 2;1 -HIST2H3D 2;1 2;1 2;1 2;1 2;1 2;1 -HIST3H3 0;0 2;1 2;1 2;1 2;1 0;0 -HLA-A 0;0 2;1 2;1 0;0 2;1 0;0 -HLA-B 2;1 2;1 0;0 2;1 2;1 2;1 -HNF1A 2;1 2;1 2;1 2;1 2;1 2;1 -HOXB13 2;1 2;1 2;1 2;1 2;1 2;1 -HRAS 2;1 2;1 2;1 2;1 2;1 2;1 -ICOSLG 0;0 2;1 2;1 2;1 2;1 2;1 -ID3 2;1 2;1 2;1 2;1 2;1 2;1 -IDH1 3;1 3;1 3;1 3;1 3;1 2;1 -IDH2 2;1 2;1 2;1 2;1 2;1 2;1 -IFNGR1 2;1 2;1 2;1 2;1 2;1 2;1 -IGF1 2;1 2;1 2;1 2;1 2;1 2;1 -IGF1R 2;1 2;1 2;1 2;1 2;1 2;1 -IGF2 2;1 2;1 2;1 2;1 2;1 2;1 -IKBKE 2;1 2;1 2;1 2;1 2;1 2;1 -IKZF1 0;0 1;0 2;1 1;0 2;1 0;0 -IL10 2;1 2;1 2;1 2;1 2;1 2;1 -IL7R 2;1 2;1 3;1 2;1 2;1 2;1 -INHA 3;1 3;1 3;1 3;1 3;1 2;1 -INHBA 0;0 1;0 2;1 1;0 2;1 0;0 -INPP4A 3;1 3;1 3;1 3;1 3;1 2;1 -INPP4B 2;1 2;1 2;1 3;1 2;1 3;1 -INPPL1 2;1 2;1 2;1 2;1 2;1 2;1 -INSR 2;1 2;1 0;0 2;1 0;0 2;1 -IRF4 2;1 2;1 2;1 2;1 2;1 0;0 -IRS1 3;1 3;1 3;1 3;1 3;1 2;1 -IRS2 2;1 1;0 2;1 1;0 0;0 2;1 -JAK1 2;1 2;1 2;1 2;1 2;1 2;1 -JAK2 1;0 1;0 0;0 1;0 1;0 2;1 -JAK3 2;1 2;1 0;0 2;1 0;0 2;1 -JUN 2;1 2;1 2;1 2;1 2;1 2;1 -KDM5A 2;1 2;1 2;1 2;1 2;1 2;1 -KDM5C 2;0 1;0 1;0 2;0 2;0 2;0 -KDM6A 2;0 1;0 1;0 2;0 2;0 2;0 -KDR 2;1 2;1 2;1 2;1 2;1 2;1 -KEAP1 2;1 2;1 0;0 2;1 0;0 2;1 -KIT 2;1 2;1 2;1 2;1 2;1 2;1 -KLF4 1;0 1;0 0;0 1;0 1;0 2;1 -KMT2A 2;1 1;0 2;1 1;0 1;0 2;1 -KMT2B 2;1 2;1 0;0 2;1 0;0 2;1 -KMT2C 4;2 3;1 2;1 2;1 2;1 2;1 -KMT2D 2;1 2;1 2;1 2;1 2;1 2;1 -KMT5A 2;1 2;1 2;1 2;1 2;1 2;1 -KNSTRN 2;1 2;1 2;1 2;1 2;1 2;1 -KRAS 2;1 2;1 2;1 2;1 2;1 2;1 -LATS1 2;1 2;1 2;1 2;1 2;1 2;1 -LATS2 2;1 1;0 2;1 1;0 0;0 2;1 -LMO1 2;1 2;1 2;1 2;1 2;1 2;1 -LYN 3;1 3;1 2;1 3;1 3;1 2;1 -MALT1 2;1 2;1 3;1 2;1 2;1 2;1 -MAP2K1 2;1 2;1 2;1 2;1 2;1 2;1 -MAP2K2 2;1 2;1 0;0 2;1 0;0 2;1 -MAP2K4 2;1 2;1 2;1 2;1 2;1 2;1 -MAP3K1 2;1 2;1 3;1 2;1 2;1 2;1 -MAP3K13 2;1 2;1 2;1 2;1 2;1 2;1 -MAP3K14 2;1 2;1 2;1 2;1 2;1 2;1 -MAPK1 2;1 2;1 2;1 2;1 2;1 2;1 -MAPK3 2;1 2;1 0;0 2;1 0;0 2;1 -MAPKAP1 1;0 1;0 0;0 1;0 1;0 2;1 -MAX 1;0 1;0 2;1 1;0 1;0 2;1 -MCL1 2;1 2;1 2;1 2;1 2;1 2;1 -MDC1 2;1 2;1 2;1 2;1 2;1 2;1 -MDM2 2;1 2;1 2;1 2;1 2;1 2;1 -MDM4 2;1 2;1 2;1 2;1 2;1 2;1 -MED12 2;0 1;0 1;0 2;0 2;0 2;0 -MEF2B 2;1 2;1 0;0 2;1 0;0 2;1 -MEN1 2;1 2;1 2;1 2;1 2;1 2;1 -MET 0;0 3;1 2;1 2;1 2;1 2;1 -MGA 2;1 2;1 2;1 2;1 2;1 2;1 -MITF 2;1 2;1 2;1 2;1 2;1 2;1 -MLH1 2;1 2;1 2;1 2;1 2;1 2;1 -MPL 2;1 2;1 2;1 2;1 2;1 2;1 -MRE11A 1;0 1;0 2;1 1;0 1;0 2;1 -MSH2 3;0 3;0 1;0 3;0 2;0 2;1 -MSH3 2;1 2;1 3;1 2;1 1;0 2;1 -MSH6 3;0 3;0 1;0 3;0 2;0 2;1 -MSI1 2;1 2;1 2;1 2;1 2;1 2;1 -MSI2 2;1 2;1 2;1 2;1 2;1 2;1 -MST1 2;1 2;1 2;1 2;1 2;1 2;1 -MST1R 2;1 2;1 2;1 2;1 2;1 2;1 -MTOR 2;1 2;1 2;1 2;1 2;1 2;1 -MUTYH 2;1 2;1 2;1 2;1 2;1 2;1 -MYC 3;1 3;1 2;1 3;1 3;1 2;1 -MYCL 2;1 2;1 2;1 2;1 2;1 2;1 -MYCN 3;1 3;1 3;NA 3;1 3;1 2;1 -MYD88 2;1 2;1 2;1 2;1 2;1 2;1 -MYOD1 2;1 2;1 2;1 2;1 2;1 2;1 -NBN 3;1 3;1 2;1 3;1 3;1 2;1 -NCOA3 2;1 2;1 2;1 2;1 2;1 2;1 -NCOR1 2;1 2;1 2;1 2;1 2;1 2;1 -NEGR1 2;1 2;1 2;1 2;1 2;1 2;1 -NF1 2;1 2;1 2;1 2;1 2;1 2;1 -NF2 2;1 2;1 2;1 2;1 2;1 2;1 -NFE2L2 3;1 3;1 3;1 3;1 3;1 2;1 -NFKBIA 1;0 1;0 2;1 1;0 1;0 2;1 -NKX2-1 1;0 1;0 2;1 1;0 1;0 2;1 -NKX3-1 3;1 2;1 3;1 2;1 2;1 2;1 -NOTCH1 1;0 1;0 0;0 1;0 1;0 2;1 -NOTCH2 2;1 2;1 2;1 2;1 2;1 2;1 -NOTCH3 2;1 2;1 0;0 2;1 0;0 2;1 -NOTCH4 2;1 2;1 0;0 2;1 2;1 2;1 -NPM1 2;1 2;1 1;0 2;1 2;1 2;1 -NRAS 2;1 2;1 2;1 2;1 2;1 2;1 -NSD1 2;1 2;1 1;0 2;1 2;1 2;1 -NTHL1 2;1 2;1 0;0 2;1 0;0 2;1 -NTRK1 2;1 2;1 2;1 2;1 2;1 2;1 -NTRK2 1;0 1;0 0;0 1;0 1;0 2;1 -NTRK3 2;1 2;1 2;1 2;1 2;1 2;1 -NUF2 2;1 2;1 2;1 2;1 2;1 2;1 -NUP93 2;1 2;1 2;1 2;1 2;1 2;1 -PAK1 1;0 1;0 2;1 1;0 1;0 2;1 -PAK5 2;1 2;1 2;1 2;1 2;1 2;1 -PALB2 2;1 2;1 0;0 2;1 0;0 2;1 -PARK2 2;1 2;1 2;1 2;1 2;1 2;1 -PARP1 0;0 2;1 2;1 2;1 2;1 0;0 -PAX5 1;0 1;0 0;0 1;0 1;0 2;1 -PBRM1 2;1 2;1 2;1 2;1 2;1 2;1 -PDCD1 3;1 3;1 3;1 3;1 3;1 2;1 -PDCD1LG2 1;0 1;0 0;0 1;0 1;0 2;1 -PDGFRA 2;1 2;1 2;1 2;1 2;1 2;1 -PDGFRB 2;1 2;1 1;0 2;1 2;1 2;1 -PDPK1 2;1 2;1 0;0 2;1 0;0 2;1 -PGR 1;0 1;0 2;1 1;0 1;0 2;1 -PHOX2B 2;1 2;1 2;1 2;1 2;1 2;1 -PIK3C2G 2;1 2;1 2;1 2;1 2;1 2;1 -PIK3C3 2;1 2;1 3;1 2;1 2;1 2;1 -PIK3CA 2;1 2;1 2;1 2;1 2;1 2;1 -PIK3CB 2;1 2;1 2;1 2;1 2;1 2;1 -PIK3CD 2;1 2;1 2;1 2;1 2;1 2;1 -PIK3CG 0;0 3;1 2;1 2;1 2;1 2;1 -PIK3R1 1;0 1;0 3;1 1;0 1;0 2;1 -PIK3R2 2;1 2;1 0;0 2;1 0;0 2;1 -PIK3R3 2;1 2;1 2;1 2;1 2;1 2;1 -PIM1 2;1 2;1 2;1 2;1 2;1 2;1 -PLCG2 2;1 2;1 2;1 2;1 2;1 2;1 -PLK2 2;1 2;1 3;1 2;1 1;0 2;1 -PMAIP1 2;1 2;1 3;1 2;1 2;1 2;1 -PMS1 3;1 3;1 3;1 3;1 3;1 2;1 -PMS2 0;0 1;0 0;0 1;0 2;1 0;0 -PNRC1 2;1 2;1 2;1 2;1 2;1 2;1 -POLD1 1;0 1;0 0;0 1;0 1;0 2;1 -POLE 2;1 2;1 2;1 2;1 2;1 2;1 -PPARG 2;1 2;1 2;1 2;1 2;1 2;1 -PPM1D 2;1 2;1 2;1 2;1 2;1 2;1 -PPP2R1A 1;0 1;0 0;0 1;0 1;0 2;1 -PPP4R2 2;1 2;1 2;1 2;1 2;1 2;1 -PPP6C 1;0 1;0 0;0 1;0 1;0 2;1 -PRDM1 2;1 2;1 2;1 2;1 2;1 2;1 -PRDM14 3;1 3;1 2;1 3;1 3;1 2;1 -PREX2 3;1 3;1 2;1 3;1 3;1 2;1 -PRKAR1A 2;1 2;1 2;1 2;1 2;1 2;1 -PRKCI 2;1 2;1 2;1 2;1 2;1 2;1 -PRKD1 1;0 1;0 2;1 1;0 1;0 2;1 -PTCH1 1;0 1;0 0;0 1;0 1;0 2;1 -PTEN 2;1 2;1 2;1 2;1 2;1 0;0 -PTP4A1 2;1 2;1 2;1 2;1 2;1 2;1 -PTPN11 2;1 2;1 2;1 2;1 2;1 2;1 -PTPRD 1;0 1;0 0;0 1;0 1;0 2;1 -PTPRS 2;1 2;1 0;0 2;1 0;0 2;1 -PTPRT 2;1 2;1 2;1 2;1 2;1 2;1 -RAB35 2;1 2;1 2;1 2;1 2;1 2;1 -RAC1 0;0 1;0 0;0 1;0 2;1 0;0 -RAC2 2;1 2;1 2;1 2;1 2;1 2;1 -RAD21 3;1 3;1 2;1 3;1 3;1 2;1 -RAD50 2;1 2;1 3;1 2;1 2;1 2;1 -RAD51 2;1 2;1 2;1 2;1 2;1 2;1 -RAD51B 1;0 1;0 2;1 1;0 1;0 2;1 -RAD51C 2;1 2;1 2;1 2;1 2;1 2;1 -RAD51D 2;1 2;1 2;1 2;1 2;1 2;1 -RAD52 2;1 2;1 2;1 2;1 2;1 2;1 -RAD54L 2;1 2;1 2;1 2;1 2;1 2;1 -RAF1 2;1 2;1 2;1 2;1 2;1 2;1 -RARA 2;1 2;1 2;1 2;1 2;1 2;1 -RASA1 2;1 2;1 3;1 2;1 2;1 2;1 -RB1 2;1 1;0 2;1 1;0 0;0 2;1 -RBM10 2;0 1;0 1;0 2;0 2;0 2;0 -RECQL 2;1 2;1 2;1 2;1 2;1 2;1 -RECQL4 3;1 3;1 2;1 1;0 3;1 2;1 -REL 3;0 3;0 3;1 3;0 2;0 2;1 -RET 2;1 2;1 2;1 2;1 2;1 0;0 -RFWD2 2;1 2;1 2;1 2;1 2;1 2;1 -RHEB 4;2 3;1 2;1 2;1 2;1 2;1 -RHOA 2;1 2;1 2;1 2;1 2;1 2;1 -RICTOR 2;1 2;1 3;1 2;1 2;1 2;1 -RIT1 2;1 2;1 2;1 2;1 2;1 2;1 -RNF43 2;1 2;1 2;1 2;1 2;1 2;1 -ROS1 2;1 2;1 2;1 2;1 2;1 2;1 -RPS6KA4 2;1 2;1 2;1 2;1 2;1 2;1 -RPS6KB2 2;1 2;1 2;1 2;1 2;1 2;1 -RPTOR 2;1 2;1 2;1 2;1 2;1 2;1 -RRAGC 2;1 2;1 2;1 2;1 2;1 2;1 -RRAS 1;0 1;0 0;0 1;0 1;0 2;1 -RRAS2 2;1 2;1 2;1 2;1 2;1 2;1 -RTEL1 2;1 2;1 2;1 2;1 2;1 2;1 -RUNX1 0;0 2;1 2;1 2;1 2;1 2;1 -RXRA 1;0 1;0 0;0 1;0 1;0 2;1 -RYBP 2;1 2;1 2;1 2;1 2;1 2;1 -SDHA 2;1 2;1 0;0 2;1 2;1 2;1 -SDHAF2 2;1 2;1 2;1 2;1 2;1 2;1 -SDHB 2;1 2;1 2;1 2;1 2;1 2;1 -SDHC 2;1 2;1 2;1 2;1 2;1 2;1 -SDHD 2;1 1;0 2;1 1;0 1;0 2;1 -SESN1 2;1 2;1 2;1 2;1 2;1 2;1 -SESN2 2;1 2;1 2;1 2;1 2;1 2;1 -SESN3 1;0 1;0 2;1 1;0 1;0 2;1 -SETD2 2;1 2;1 2;1 2;1 2;1 2;1 -SF3B1 3;1 3;1 3;1 3;1 3;1 2;1 -SH2B3 2;1 2;1 2;1 2;1 2;1 2;1 -SH2D1A 2;0 1;0 1;0 1;0 2;0 1;0 -SHOC2 2;1 2;1 2;1 2;1 2;1 0;0 -SHQ1 2;1 2;1 2;1 2;1 2;1 2;1 -SLX4 2;1 2;1 0;0 2;1 0;0 2;1 -SMAD2 2;1 2;1 3;1 2;1 2;1 2;1 -SMAD3 2;1 2;1 2;1 2;1 2;1 2;1 -SMAD4 2;1 2;1 3;1 2;1 2;1 2;1 -SMARCA4 2;1 2;1 0;0 2;1 0;0 2;1 -SMARCB1 2;1 2;1 2;1 2;1 2;1 2;1 -SMARCD1 2;1 2;1 2;1 2;1 2;1 2;1 -SMO 0;0 3;1 2;1 2;1 2;1 2;1 -SMYD3 0;0 2;1 2;1 2;1 2;1 0;0 -SOCS1 2;1 2;1 0;0 2;1 0;0 2;1 -SOS1 3;0 3;0 1;0 3;0 2;0 2;1 -SOX17 3;1 3;1 2;1 3;1 3;1 2;1 -SOX2 2;1 2;1 2;1 2;1 2;1 2;1 -SOX9 2;1 2;1 2;1 2;1 2;1 2;1 -SPEN 2;1 2;1 2;1 2;1 2;1 2;1 -SPOP 2;1 2;1 2;1 2;1 2;1 2;1 -SPRED1 2;1 2;1 2;1 2;1 2;1 2;1 -SRC 2;1 2;1 2;1 2;1 2;1 2;1 -SRSF2 2;1 2;1 2;1 2;1 2;1 2;1 -STAG2 2;0 1;0 1;0 1;0 2;0 1;0 -STAT3 2;1 2;1 2;1 2;1 2;1 2;1 -STAT5A 2;1 2;1 2;1 2;1 2;1 2;1 -STAT5B 2;1 2;1 2;1 2;1 2;1 2;1 -STK11 2;1 2;1 0;0 2;1 0;0 2;1 -STK19 2;1 2;1 0;0 2;1 2;1 2;1 -STK40 2;1 2;1 2;1 2;1 2;1 2;1 -SUFU 2;1 2;1 2;1 2;1 2;1 0;0 -SUZ12 2;1 2;1 2;1 2;1 2;1 2;1 -SYK 1;0 1;0 0;0 1;0 1;0 2;1 -TAP1 2;1 2;1 0;0 2;1 2;1 2;1 -TAP2 2;1 2;1 0;0 2;1 2;1 2;1 -TBX3 2;1 2;1 2;1 2;1 2;1 2;1 -TCEB1 3;1 3;1 2;1 3;1 3;1 2;1 -TCF3 2;1 2;1 0;0 2;1 0;0 2;1 -TCF7L2 2;1 2;1 2;1 2;1 2;1 0;0 -TEK 1;0 1;0 0;0 1;0 1;0 2;1 -TERT 2;1 2;1 0;0 2;1 2;1 2;1 -TET1 2;1 2;1 2;1 2;1 2;1 0;0 -TET2 2;1 2;1 2;1 2;1 2;1 2;1 -TGFBR1 1;0 1;0 0;0 1;0 1;0 2;1 -TGFBR2 2;1 2;1 2;1 2;1 2;1 2;1 -TMEM127 3;1 3;1 3;1 3;1 3;1 2;1 -TMPRSS2 0;0 2;1 2;1 2;1 2;1 2;1 -TNFAIP3 2;1 2;1 2;1 2;1 2;1 2;1 -TNFRSF14 2;1 2;1 2;1 2;1 2;1 2;1 -TOP1 2;1 2;1 2;1 2;1 2;1 2;1 -TP53 2;1 2;1 2;1 2;1 2;1 2;1 -TP53BP1 2;1 2;1 2;1 2;1 2;1 2;1 -TP63 2;1 2;1 2;1 2;1 2;1 2;1 -TRAF2 1;0 1;0 0;0 1;0 1;0 2;1 -TRAF7 2;1 2;1 0;0 2;1 0;0 2;1 -TSC1 1;0 1;0 0;0 1;0 1;0 2;1 -TSC2 2;1 2;1 0;0 2;1 0;0 2;1 -TSHR 1;0 1;0 2;1 1;0 1;0 2;1 -U2AF1 0;0 2;1 2;1 2;1 2;1 2;1 -UPF1 2;1 2;1 0;0 2;1 0;0 2;1 -VEGFA 2;1 2;1 2;1 2;1 2;1 2;1 -VHL 2;1 2;1 2;1 2;1 2;1 0;0 -VTCN1 2;1 2;1 2;1 2;1 2;1 2;1 -WHSC1 2;1 2;1 2;1 2;1 2;1 2;1 -WHSC1L1 3;1 2;1 1;0 2;1 2;1 2;1 -WT1 2;1 2;1 2;1 2;1 2;1 2;1 -WWTR1 2;1 2;1 2;1 2;1 2;1 2;1 -XIAP 2;0 1;0 1;0 1;0 2;0 1;0 -XPO1 3;0 3;0 3;1 3;0 2;0 2;1 -XRCC2 4;2 3;1 2;1 2;1 2;1 2;1 -YAP1 1;0 1;0 2;1 1;0 1;0 2;1 -YES1 2;1 2;1 3;1 2;1 2;1 2;1 -ZFHX3 2;1 2;1 2;1 2;1 2;1 2;1 -ZRSR2 2;0 1;0 1;0 1;0 2;0 2;0 diff --git a/end-to-end-test/local/studies/ascn-test-study/data_CNA.txt b/end-to-end-test/local/studies/ascn-test-study/data_CNA.txt deleted file mode 100644 index 1310849def7..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/data_CNA.txt +++ /dev/null @@ -1,469 +0,0 @@ -Hugo_Symbol FAKE_P001_S2 FAKE_P001_S3 FAKE_P001_S4 FAKE_P001_S5 FAKE_P001_S6 FAKE_P001_S7 -ABL1 -1 -1 -2 -1 -1 0 -ACVR1 1 1 1 1 1 0 -AGO2 1 1 0 1 1 0 -AKT1 -1 -1 0 -1 -1 0 -AKT2 -1 -1 -2 -1 -1 0 -AKT3 -2 0 0 0 0 -2 -ALK 1 1 -1 1 -1 0 -ALOX12B 0 0 0 0 0 0 -AMER1 NA NA -1 NA NA -1 -ANKRD11 0 0 0 0 0 0 -APC 0 0 1 0 0 0 -AR NA NA -1 NA NA -1 -ARAF NA NA -1 NA NA -1 -ARID1A 0 0 0 0 0 0 -ARID1B 0 0 0 0 0 0 -ARID2 0 0 0 0 0 0 -ARID5B 0 0 0 0 0 -2 -ASXL1 0 0 0 0 0 0 -ASXL2 1 1 -1 1 1 0 -ATM 0 -1 0 -1 -1 0 -ATR 0 0 0 0 0 0 -ATRX NA NA -1 NA NA -1 -AURKA 0 0 0 0 0 0 -AURKB 0 0 0 0 0 0 -AXIN1 0 0 -2 0 0 0 -AXIN2 0 0 0 0 0 0 -AXL -1 -1 -2 -1 -1 0 -B2M 0 0 0 0 0 0 -BABAM1 0 0 -2 0 0 0 -BAP1 0 0 0 0 0 0 -BARD1 1 1 1 1 1 0 -BBC3 -1 -1 -2 -1 -1 0 -BCL10 0 0 0 0 0 0 -BCL2 0 0 1 0 0 0 -BCL2L1 0 0 0 0 0 0 -BCL2L11 1 1 1 1 1 0 -BCL6 0 0 0 0 0 0 -BCOR NA NA -1 NA NA -1 -BIRC3 -1 -1 0 -1 -1 0 -BLM 0 0 0 0 0 0 -BMPR1A 0 0 0 0 0 -2 -BRAF 0 1 0 0 0 0 -BRCA1 0 0 0 0 0 0 -BRCA2 0 -1 0 -1 -2 0 -BRD4 0 0 -2 0 0 0 -BRIP1 0 0 0 0 0 0 -BTK NA NA -1 NA NA -1 -CALR 0 0 -2 0 0 0 -CARD11 -2 -1 -2 -1 0 -2 -CARM1 0 0 -2 0 0 0 -CASP8 1 1 1 1 1 0 -CBFB 0 0 0 0 0 0 -CBL 0 -1 0 -1 -1 0 -CCND1 0 0 0 0 0 0 -CCND2 0 0 0 0 0 0 -CCND3 0 0 0 0 0 0 -CCNE1 0 0 -2 0 0 0 -CD274 -1 -1 -2 -1 -1 0 -CD276 0 0 0 0 0 0 -CD79A -1 -1 -2 -1 -1 0 -CD79B 0 0 0 0 0 0 -CDC42 0 0 0 0 0 0 -CDC73 0 0 0 0 0 0 -CDH1 0 0 0 0 0 0 -CDK12 0 0 0 0 0 0 -CDK4 0 0 0 0 0 0 -CDK6 -2 1 0 0 0 0 -CDK8 0 -1 0 -1 -2 0 -CDKN1A 0 0 0 0 0 0 -CDKN1B 0 0 0 0 0 0 -CDKN2A -1 -2 -2 -2 -2 0 -CDKN2B -1 -2 -2 -2 -2 0 -CDKN2C 0 0 0 0 0 0 -CEBPA 0 0 -2 0 0 0 -CENPA 1 1 -1 1 1 0 -CHEK1 0 0 0 0 0 0 -CHEK2 0 0 0 0 0 0 -CIC -1 -1 -2 -1 -1 0 -CREBBP 0 0 -2 0 0 0 -CRKL 0 0 0 0 0 0 -CRLF2 NA NA -1 NA NA -1 -CSDE1 0 0 0 0 0 0 -CSF1R 0 0 -1 0 0 0 -CSF3R 0 0 0 0 0 0 -CTCF 0 0 0 0 0 0 -CTLA4 1 1 1 1 1 0 -CTNNB1 0 0 0 0 0 0 -CUL3 1 1 1 1 1 0 -CXCR4 1 1 1 1 1 0 -CYLD 0 0 0 0 0 0 -CYSLTR2 0 -1 0 -1 -2 0 -DAXX 0 0 0 0 0 0 -DCUN1D1 0 0 0 0 0 0 -DDR2 0 0 0 0 0 0 -DICER1 -1 -1 0 -1 -1 0 -DIS3 0 -1 0 -1 -2 0 -DNAJB1 0 0 -2 0 0 0 -DNMT1 0 0 -2 0 0 0 -DNMT3A 1 1 -1 1 1 0 -DNMT3B 0 0 0 0 0 0 -DOT1L 0 0 -2 0 0 0 -DROSHA 0 0 -2 0 0 0 -DUSP4 1 0 -1 0 0 0 -E2F3 0 0 0 0 0 -2 -EED -1 -1 0 -1 -1 0 -EGFL7 -1 -1 -2 -1 -1 0 -EGFR -2 -1 0 -1 0 -2 -EIF1AX NA NA -1 NA NA -1 -EIF4A2 0 0 0 0 0 0 -EIF4E 0 -1 0 0 0 0 -ELF3 0 0 0 0 0 0 -EP300 0 0 0 0 0 0 -EPAS1 1 -1 -1 -1 -1 0 -EPCAM 1 -1 -1 -1 -1 0 -EPHA3 0 0 0 0 0 0 -EPHA5 0 0 0 0 0 0 -EPHA7 0 0 0 0 0 0 -EPHB1 0 0 0 0 0 0 -ERBB2 0 0 0 0 0 0 -ERBB3 0 0 0 0 0 0 -ERBB4 1 1 1 1 1 0 -ERCC2 -1 -1 -2 -1 -1 0 -ERCC3 1 1 1 1 1 0 -ERCC4 0 0 -2 0 0 0 -ERCC5 0 -1 0 -1 -2 0 -ERF -1 -1 -2 -1 -1 0 -ERG -2 0 0 0 0 0 -ERRFI1 0 0 0 0 0 0 -ESR1 0 0 0 0 0 0 -ETV1 -2 -1 0 -1 0 -2 -ETV6 0 0 0 0 0 0 -EZH1 0 0 0 0 0 0 -EZH2 0 1 0 0 0 0 -FAM175A 0 0 0 0 0 0 -FAM46C 0 0 0 0 0 0 -FAM58A NA NA -1 NA NA -1 -FANCA 0 0 0 0 0 0 -FANCC -1 -1 -2 -1 -1 0 -FAT1 0 0 0 0 0 1 -FBXW7 0 0 0 0 0 1 -FGF19 0 0 0 0 0 0 -FGF3 0 0 0 0 0 0 -FGF4 0 0 0 0 0 0 -FGFR1 1 0 -1 0 0 0 -FGFR2 0 0 0 0 0 -2 -FGFR3 0 0 0 0 0 0 -FGFR4 0 0 -1 0 0 0 -FH -2 0 0 0 0 -2 -FLCN 0 0 0 0 0 0 -FLT1 0 -1 0 -1 -2 0 -FLT3 0 -1 0 -1 -2 0 -FLT4 0 0 -1 0 0 0 -FOXA1 -1 -1 0 -1 -1 0 -FOXL2 0 0 0 0 0 0 -FOXO1 0 -1 0 -1 -2 0 -FOXP1 0 0 0 0 0 0 -FUBP1 0 0 0 0 0 0 -FYN 0 0 0 0 0 0 -GATA1 NA NA -1 NA NA -1 -GATA2 0 0 0 0 0 0 -GATA3 0 0 0 0 0 -2 -GLI1 0 0 0 0 0 0 -GNA11 0 0 -2 0 0 0 -GNAQ -1 -1 -2 -1 -1 0 -GNAS 0 0 0 0 0 0 -GPS2 0 0 0 0 0 0 -GREM1 0 0 0 0 0 0 -GRIN2A 0 0 -2 0 0 0 -GSK3B 0 0 0 0 0 0 -H3F3A -2 0 0 0 0 -2 -H3F3B 0 0 0 0 0 0 -H3F3C 0 0 0 0 0 0 -HGF -2 1 0 0 0 0 -HIST1H1C 0 0 0 0 0 -2 -HIST1H2BD 0 0 0 0 0 -2 -HIST1H3A 0 0 0 0 0 -2 -HIST1H3B 0 0 0 0 0 -2 -HIST1H3C 0 0 0 0 0 -2 -HIST1H3D -2 0 0 -2 0 -2 -HIST1H3E -2 0 0 -2 0 -2 -HIST1H3F -2 0 0 -2 0 -2 -HIST1H3G -2 0 0 -2 0 -2 -HIST1H3H -2 0 0 -2 0 -2 -HIST1H3I -2 0 0 -2 0 -2 -HIST1H3J -2 0 0 -2 0 -2 -HIST2H3C 0 0 0 0 0 0 -HIST2H3D 0 0 0 0 0 0 -HIST3H3 -2 0 0 0 0 -2 -HLA-A -2 0 0 -2 0 -2 -HLA-B 0 0 -2 0 0 0 -HNF1A 0 0 0 0 0 0 -HOXB13 0 0 0 0 0 0 -HRAS 0 0 0 0 0 0 -ICOSLG -2 0 0 0 0 0 -ID3 0 0 0 0 0 0 -IDH1 1 1 1 1 1 0 -IDH2 0 0 0 0 0 0 -IFNGR1 0 0 0 0 0 0 -IGF1 0 0 0 0 0 0 -IGF1R 0 0 0 0 0 0 -IGF2 0 0 0 0 0 0 -IKBKE 0 0 0 0 0 0 -IKZF1 -2 -1 0 -1 0 -2 -IL10 0 0 0 0 0 0 -IL7R 0 0 1 0 0 0 -INHA 1 1 1 1 1 0 -INHBA -2 -1 0 -1 0 -2 -INPP4A 1 1 1 1 1 0 -INPP4B 0 0 0 0 0 1 -INPPL1 0 0 0 0 0 0 -INSR 0 0 -2 0 0 0 -IRF4 0 0 0 0 0 -2 -IRS1 1 1 1 1 1 0 -IRS2 0 -1 0 -1 -2 0 -JAK1 0 0 0 0 0 0 -JAK2 -1 -1 -2 -1 -1 0 -JAK3 0 0 -2 0 0 0 -JUN 0 0 0 0 0 0 -KDM5A 0 0 0 0 0 0 -KDM5C NA NA -1 NA NA -1 -KDM6A NA NA -1 NA NA -1 -KDR 0 0 0 0 0 0 -KEAP1 0 0 -2 0 0 0 -KIT 0 0 0 0 0 0 -KLF4 -1 -1 -2 -1 -1 0 -KMT2A 0 -1 0 -1 -1 0 -KMT2B 0 0 -2 0 0 0 -KMT2C 0 1 0 0 0 0 -KMT2D 0 0 0 0 0 0 -KMT5A 0 0 0 0 0 0 -KNSTRN 0 0 0 0 0 0 -KRAS 0 0 0 0 0 0 -LATS1 0 0 0 0 0 0 -LATS2 0 -1 0 -1 -2 0 -LMO1 0 0 0 0 0 0 -LYN 1 1 0 1 1 0 -MALT1 0 0 1 0 0 0 -MAP2K1 0 0 0 0 0 0 -MAP2K2 0 0 -2 0 0 0 -MAP2K4 0 0 0 0 0 0 -MAP3K1 0 0 1 0 0 0 -MAP3K13 0 0 0 0 0 0 -MAP3K14 0 0 0 0 0 0 -MAPK1 0 0 0 0 0 0 -MAPK3 0 0 -2 0 0 0 -MAPKAP1 -1 -1 -2 -1 -1 0 -MAX -1 -1 0 -1 -1 0 -MCL1 0 0 0 0 0 0 -MDC1 0 0 0 0 0 0 -MDM2 0 0 0 0 0 0 -MDM4 0 0 0 0 0 0 -MED12 NA NA -1 NA NA -1 -MEF2B 0 0 -2 0 0 0 -MEN1 0 0 0 0 0 0 -MET -2 1 0 0 0 0 -MGA 0 0 0 0 0 0 -MITF 0 0 0 0 0 0 -MLH1 0 0 0 0 0 0 -MPL 0 0 0 0 0 0 -MRE11A -1 -1 0 -1 -1 0 -MSH2 1 -1 -1 -1 -1 0 -MSH3 0 0 1 0 -1 0 -MSH6 1 -1 -1 -1 -1 0 -MSI1 0 0 0 0 0 0 -MSI2 0 0 0 0 0 0 -MST1 0 0 0 0 0 0 -MST1R 0 0 0 0 0 0 -MTOR 0 0 0 0 0 0 -MUTYH 0 0 0 0 0 0 -MYC 1 1 0 1 1 0 -MYCL 0 0 0 0 0 0 -MYCN 1 1 NA 1 1 0 -MYD88 0 0 0 0 0 0 -MYOD1 0 0 0 0 0 0 -NBN 1 1 0 1 1 0 -NCOA3 0 0 0 0 0 0 -NCOR1 0 0 0 0 0 0 -NEGR1 0 0 0 0 0 0 -NF1 0 0 0 0 0 0 -NF2 0 0 0 0 0 0 -NFE2L2 1 1 1 1 1 0 -NFKBIA -1 -1 0 -1 -1 0 -NKX2-1 -1 -1 0 -1 -1 0 -NKX3-1 1 0 1 0 0 0 -NOTCH1 -1 -1 -2 -1 -1 0 -NOTCH2 0 0 0 0 0 0 -NOTCH3 0 0 -2 0 0 0 -NOTCH4 0 0 -2 0 0 0 -NPM1 0 0 -1 0 0 0 -NRAS 0 0 0 0 0 0 -NSD1 0 0 -1 0 0 0 -NTHL1 0 0 -2 0 0 0 -NTRK1 0 0 0 0 0 0 -NTRK2 -1 -1 -2 -1 -1 0 -NTRK3 0 0 0 0 0 0 -NUF2 0 0 0 0 0 0 -NUP93 0 0 0 0 0 0 -PAK1 -1 -1 0 -1 -1 0 -PAK5 0 0 0 0 0 0 -PALB2 0 0 -2 0 0 0 -PARK2 0 0 0 0 0 0 -PARP1 -2 0 0 0 0 -2 -PAX5 -1 -1 -2 -1 -1 0 -PBRM1 0 0 0 0 0 0 -PDCD1 1 1 1 1 1 0 -PDCD1LG2 -1 -1 -2 -1 -1 0 -PDGFRA 0 0 0 0 0 0 -PDGFRB 0 0 -1 0 0 0 -PDPK1 0 0 -2 0 0 0 -PGR -1 -1 0 -1 -1 0 -PHOX2B 0 0 0 0 0 0 -PIK3C2G 0 0 0 0 0 0 -PIK3C3 0 0 1 0 0 0 -PIK3CA 0 0 0 0 0 0 -PIK3CB 0 0 0 0 0 0 -PIK3CD 0 0 0 0 0 0 -PIK3CG -2 1 0 0 0 0 -PIK3R1 -1 -1 1 -1 -1 0 -PIK3R2 0 0 -2 0 0 0 -PIK3R3 0 0 0 0 0 0 -PIM1 0 0 0 0 0 0 -PLCG2 0 0 0 0 0 0 -PLK2 0 0 1 0 -1 0 -PMAIP1 0 0 1 0 0 0 -PMS1 1 1 1 1 1 0 -PMS2 -2 -1 -2 -1 0 -2 -PNRC1 0 0 0 0 0 0 -POLD1 -1 -1 -2 -1 -1 0 -POLE 0 0 0 0 0 0 -PPARG 0 0 0 0 0 0 -PPM1D 0 0 0 0 0 0 -PPP2R1A -1 -1 -2 -1 -1 0 -PPP4R2 0 0 0 0 0 0 -PPP6C -1 -1 -2 -1 -1 0 -PRDM1 0 0 0 0 0 0 -PRDM14 1 1 0 1 1 0 -PREX2 1 1 0 1 1 0 -PRKAR1A 0 0 0 0 0 0 -PRKCI 0 0 0 0 0 0 -PRKD1 -1 -1 0 -1 -1 0 -PTCH1 -1 -1 -2 -1 -1 0 -PTEN 0 0 0 0 0 -2 -PTP4A1 0 0 0 0 0 0 -PTPN11 0 0 0 0 0 0 -PTPRD -1 -1 -2 -1 -1 0 -PTPRS 0 0 -2 0 0 0 -PTPRT 0 0 0 0 0 0 -RAB35 0 0 0 0 0 0 -RAC1 -2 -1 -2 -1 0 -2 -RAC2 0 0 0 0 0 0 -RAD21 1 1 0 1 1 0 -RAD50 0 0 1 0 0 0 -RAD51 0 0 0 0 0 0 -RAD51B -1 -1 0 -1 -1 0 -RAD51C 0 0 0 0 0 0 -RAD51D 0 0 0 0 0 0 -RAD52 0 0 0 0 0 0 -RAD54L 0 0 0 0 0 0 -RAF1 0 0 0 0 0 0 -RARA 0 0 0 0 0 0 -RASA1 0 0 1 0 0 0 -RB1 0 -1 0 -1 -2 0 -RBM10 NA NA -1 NA NA -1 -RECQL 0 0 0 0 0 0 -RECQL4 1 1 0 -1 1 0 -REL 1 -1 1 -1 -1 0 -RET 0 0 0 0 0 -2 -RFWD2 0 0 0 0 0 0 -RHEB 0 1 0 0 0 0 -RHOA 0 0 0 0 0 0 -RICTOR 0 0 1 0 0 0 -RIT1 0 0 0 0 0 0 -RNF43 0 0 0 0 0 0 -ROS1 0 0 0 0 0 0 -RPS6KA4 0 0 0 0 0 0 -RPS6KB2 0 0 0 0 0 0 -RPTOR 0 0 0 0 0 0 -RRAGC 0 0 0 0 0 0 -RRAS -1 -1 -2 -1 -1 0 -RRAS2 0 0 0 0 0 0 -RTEL1 0 0 0 0 0 0 -RUNX1 -2 0 0 0 0 0 -RXRA -1 -1 -2 -1 -1 0 -RYBP 0 0 0 0 0 0 -SDHA 0 0 -2 0 0 0 -SDHAF2 0 0 0 0 0 0 -SDHB 0 0 0 0 0 0 -SDHC 0 0 0 0 0 0 -SDHD 0 -1 0 -1 -1 0 -SESN1 0 0 0 0 0 0 -SESN2 0 0 0 0 0 0 -SESN3 -1 -1 0 -1 -1 0 -SETD2 0 0 0 0 0 0 -SF3B1 1 1 1 1 1 0 -SH2B3 0 0 0 0 0 0 -SH2D1A NA NA -1 NA NA -1 -SHOC2 0 0 0 0 0 -2 -SHQ1 0 0 0 0 0 0 -SLX4 0 0 -2 0 0 0 -SMAD2 0 0 1 0 0 0 -SMAD3 0 0 0 0 0 0 -SMAD4 0 0 1 0 0 0 -SMARCA4 0 0 -2 0 0 0 -SMARCB1 0 0 0 0 0 0 -SMARCD1 0 0 0 0 0 0 -SMO -2 1 0 0 0 0 -SMYD3 -2 0 0 0 0 -2 -SOCS1 0 0 -2 0 0 0 -SOS1 1 -1 -1 -1 -1 0 -SOX17 1 1 0 1 1 0 -SOX2 0 0 0 0 0 0 -SOX9 0 0 0 0 0 0 -SPEN 0 0 0 0 0 0 -SPOP 0 0 0 0 0 0 -SPRED1 0 0 0 0 0 0 -SRC 0 0 0 0 0 0 -SRSF2 0 0 0 0 0 0 -STAG2 NA NA -1 NA NA -1 -STAT3 0 0 0 0 0 0 -STAT5A 0 0 0 0 0 0 -STAT5B 0 0 0 0 0 0 -STK11 0 0 -2 0 0 0 -STK19 0 0 -2 0 0 0 -STK40 0 0 0 0 0 0 -SUFU 0 0 0 0 0 -2 -SUZ12 0 0 0 0 0 0 -SYK -1 -1 -2 -1 -1 0 -TAP1 0 0 -2 0 0 0 -TAP2 0 0 -2 0 0 0 -TBX3 0 0 0 0 0 0 -TCEB1 1 1 0 1 1 0 -TCF3 0 0 -2 0 0 0 -TCF7L2 0 0 0 0 0 -2 -TEK -1 -1 -2 -1 -1 0 -TERT 0 0 -2 0 0 0 -TET1 0 0 0 0 0 -2 -TET2 0 0 0 0 0 0 -TGFBR1 -1 -1 -2 -1 -1 0 -TGFBR2 0 0 0 0 0 0 -TMEM127 1 1 1 1 1 0 -TMPRSS2 -2 0 0 0 0 0 -TNFAIP3 0 0 0 0 0 0 -TNFRSF14 0 0 0 0 0 0 -TOP1 0 0 0 0 0 0 -TP53 0 0 0 0 0 0 -TP53BP1 0 0 0 0 0 0 -TP63 0 0 0 0 0 0 -TRAF2 -1 -1 -2 -1 -1 0 -TRAF7 0 0 -2 0 0 0 -TSC1 -1 -1 -2 -1 -1 0 -TSC2 0 0 -2 0 0 0 -TSHR -1 -1 0 -1 -1 0 -U2AF1 -2 0 0 0 0 0 -UPF1 0 0 -2 0 0 0 -VEGFA 0 0 0 0 0 0 -VHL 0 0 0 0 0 -2 -VTCN1 0 0 0 0 0 0 -WHSC1 0 0 0 0 0 0 -WHSC1L1 1 0 -1 0 0 0 -WT1 0 0 0 0 0 0 -WWTR1 0 0 0 0 0 0 -XIAP NA NA -1 NA NA -1 -XPO1 1 -1 1 -1 -1 0 -XRCC2 0 1 0 0 0 0 -YAP1 -1 -1 0 -1 -1 0 -YES1 0 0 1 0 0 0 -ZFHX3 0 0 0 0 0 0 -ZRSR2 NA NA -1 NA NA -1 diff --git a/end-to-end-test/local/studies/ascn-test-study/data_clinical_patient.txt b/end-to-end-test/local/studies/ascn-test-study/data_clinical_patient.txt deleted file mode 100644 index 4e94dede739..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/data_clinical_patient.txt +++ /dev/null @@ -1,6 +0,0 @@ -#PATIENT_ID SEX -#PATIENT_ID SEX -#STRING STRING -#1 1 -PATIENT_ID SEX -FAKE_P001 M diff --git a/end-to-end-test/local/studies/ascn-test-study/data_clinical_sample.txt b/end-to-end-test/local/studies/ascn-test-study/data_clinical_sample.txt deleted file mode 100644 index 6642735e8b7..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/data_clinical_sample.txt +++ /dev/null @@ -1,11 +0,0 @@ -#SAMPLE_ID PATIENT_ID TISSUE_SITE ASCN_WGD ONCOTREE_CODE SAMPLE_TYPE GENE_PANEL ASCN_PLOIDY ASCN_VERSION ASCN_PURITY SAMPLE_CLASS -#SAMPLE_ID PATIENT_ID TISSUE_SITE ASCN_WGD ONCOTREE_CODE SAMPLE_TYPE GENE_PANEL ASCN_PLOIDY ASCN_VERSION ASCN_PURITY SAMPLE_CLASS -#STRING STRING STRING STRING STRING STRING STRING STRING STRING STRING STRING -#1 1 1 1 1 1 1 1 1 1 1 -SAMPLE_ID PATIENT_ID TISSUE_SITE ASCN_WGD ONCOTREE_CODE SAMPLE_TYPE GENE_PANEL ASCN_PLOIDY ASCN_VERSION ASCN_PURITY SAMPLE_CLASS -FAKE_P001_S3 FAKE_P001 WGD AASTR Local Recurrence IMPACT468 2.4 0.5.14 0.78 RapidAutopsy -FAKE_P001_S2 FAKE_P001 WGD AASTR Local Recurrence IMPACT468 2.8 0.5.14 0.76 RapidAutopsy -FAKE_P001_S5 FAKE_P001 WGD AASTR Local Recurrence IMPACT468 2.8 0.5.14 0.9 RapidAutopsy -FAKE_P001_S4 FAKE_P001 WGD AASTR Local Recurrence IMPACT468 2 0.5.14 NA RapidAutopsy -FAKE_P001_S6 FAKE_P001 no WGD AASTR Local Recurrence IMPACT468 2.8 0.5.14 0.73 RapidAutopsy -FAKE_P001_S7 FAKE_P001 no WGD AASTR Local Recurrence IMPACT468 2 0.5.14 NA RapidAutopsy diff --git a/end-to-end-test/local/studies/ascn-test-study/data_mutations_extended.txt b/end-to-end-test/local/studies/ascn-test-study/data_mutations_extended.txt deleted file mode 100644 index 8b7e84eb0b4..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/data_mutations_extended.txt +++ /dev/null @@ -1,25 +0,0 @@ -# Versions: VERSIONS: roslin-core-2.1.2, roslin-variant-2.5.7, cmo-1.9.13 -Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID HGVSc HGVSp Amino_Acid_Change Transcript_ID Exon_Number t_depth t_ref_count t_alt_count n_depth n_ref_count n_alt_count ASCN.TOTAL_COPY_NUMBER ASCN.MINOR_COPY_NUMBER ASCN.EXPECTED_ALT_COPIES ASCN.CCF_EXPECTED_COPIES ASCN.CCF_EXPECTED_COPIES_LOWER ASCN.CCF_EXPECTED_COPIES_UPPER ASCN.ASCN_INTEGER_COPY_NUMBER ASCN.ASCN_METHOD ASCN.CLONAL -KMT2C 58508 mskcc.org GRCh37 7 152132724 152132724 + Nonsense_Mutation SNP T T A novel NA FAKE_P001_S2 FAKE_P001_N1 T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.148A>T p.Arg50Ter p.R50* ENST00000262189 1/59 1278 1015 263 1554 1547 0 2 1 1 0.541 0.506 0.577 0 FACETS CLONAL -KMT2C 58508 mskcc.org GRCh37 7 152132724 152132724 + Nonsense_Mutation SNP T T A novel NA FAKE_P001_S3 FAKE_P001_N1 T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.148A>T p.Arg50Ter p.R50* ENST00000262189 1/59 1379 910 469 1554 1547 0 3 1 1 1 0.994 1 1 FACETS SUBCLONAL -KMT2C 58508 mskcc.org GRCh37 7 152132724 152132724 + Nonsense_Mutation SNP T T A novel NA FAKE_P001_S4 FAKE_P001_N1 T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.148A>T p.Arg50Ter p.R50* ENST00000262189 1/59 217 197 20 1554 1547 0 2 1 NA NA NA 1 0 FACETS CLONAL -KMT2C 58508 mskcc.org GRCh37 7 152132724 152132724 + Nonsense_Mutation SNP T T A novel NA FAKE_P001_S5 FAKE_P001_N1 T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.148A>T p.Arg50Ter p.R50* ENST00000262189 1/59 1421 759 662 1554 1547 0 2 1 1 1 0.986 1 0 FACETS CLONAL -KMT2C 58508 mskcc.org GRCh37 7 152132724 152132724 + Nonsense_Mutation SNP T T A novel NA FAKE_P001_S6 FAKE_P001_N1 T T NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.148A>T p.Arg50Ter p.R50* ENST00000262189 1/59 1470 943 527 1554 1547 0 2 1 1 0.979 0.938 1 0 FACETS CLONAL -TP53 7157 mskcc.org GRCh37 2 158617575 158617575 + Missense_Mutation SNP G G C novel NA FAKE_P001_S6 FAKE_P001_N1 G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1081C>G p.His361Asp p.H361D ENST00000263640 9/11 539 394 145 666 664 2 3 1 1 1 0.921 1 1 FACETS SUBCLONAL -PIK3C2G 5288 mskcc.org GRCh37 12 18658268 18658268 + Missense_Mutation SNP G G A novel NA FAKE_P001_S3 FAKE_P001_N1 G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.3073G>A p.Val1025Ile p.V1025I ENST00000266497 22/31 308 287 21 533 533 0 2 1 1 0.175 0.134 0.222 0 FACETS CLONAL -TERT 7015 mskcc.org GRCh37 5 1295228 1295228 + 5'Flank SNP G G A novel NA FAKE_P001_S2 FAKE_P001_N1 G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000310581 1450 926 524 2223 2214 1 2 1 1 0.95 0.911 0.99 0 FACETS CLONAL -TERT 7015 mskcc.org GRCh37 5 1295228 1295228 + 5'Flank SNP G G A novel NA FAKE_P001_S3 FAKE_P001_N1 G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000310581 1549 956 593 2238 2222 1 2 1 1 0.982 0.944 1 0 FACETS CLONAL -TERT 7015 mskcc.org GRCh37 5 1295228 1295228 + 5'Flank SNP G G A novel NA FAKE_P001_S4 FAKE_P001_N1 G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000310581 202 180 22 2232 2224 1 2 1 NA NA NA 1 0 FACETS CLONAL -TERT 7015 mskcc.org GRCh37 5 1295228 1295228 + 5'Flank SNP G G A novel NA FAKE_P001_S5 FAKE_P001_N1 G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000310581 1616 936 680 2221 2211 1 2 1 1 0.939 0.906 0.971 0 FACETS CLONAL -TERT 7015 mskcc.org GRCh37 5 1295228 1295228 + 5'Flank SNP G G A novel NA FAKE_P001_S6 FAKE_P001_N1 G G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000310581 1499 964 535 2210 2201 1 2 1 1 0.975 0.935 1 0 FACETS CLONAL -HIST1H1B 3009 mskcc.org GRCh37 6 27835010 27835011 + Frame_Shift_Ins INS - - G novel NA FAKE_P001_S3 FAKE_P001_N1 - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.297dupC p.Lys100GlnfsTer10 p.K100Qfs*10 ENST00000331442 1/1 29 15 14 57 57 0 2 1 1 1 0.878 1 0 FACETS CLONAL -HIST1H1B 3009 mskcc.org GRCh37 6 27835010 27835011 + Frame_Shift_Ins INS - - G novel NA FAKE_P001_S6 FAKE_P001_N1 - - NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.297dupC p.Lys100GlnfsTer10 p.K100Qfs*10 ENST00000331442 1/1 32 18 14 57 57 0 2 1 1 1 0.862 1 0 FACETS CLONAL -SETD2 29072 mskcc.org GRCh37 3 47125376 47125377 + Frame_Shift_Del DEL CT CT - novel NA FAKE_P001_S2 FAKE_P001_N1 CT CT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5893_5894delAG p.Ser1965GlnfsTer10 p.S1965Qfs*10 ENST00000409792 12/21 355 257 98 659 658 0 2 1 1 0.726 0.653 0.801 0 FACETS CLONAL -SETD2 29072 mskcc.org GRCh37 3 47125376 47125377 + Frame_Shift_Del DEL CT CT - novel NA FAKE_P001_S3 FAKE_P001_N1 CT CT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5893_5894delAG p.Ser1965GlnfsTer10 p.S1965Qfs*10 ENST00000409792 12/21 363 226 137 659 658 0 2 1 1 0.968 0.892 1 0 FACETS CLONAL -SETD2 29072 mskcc.org GRCh37 3 47125376 47125377 + Frame_Shift_Del DEL CT CT - novel NA FAKE_P001_S5 FAKE_P001_N1 CT CT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5893_5894delAG p.Ser1965GlnfsTer10 p.S1965Qfs*10 ENST00000409792 12/21 250 127 123 659 658 0 2 1 1 1 0.969 1 0 FACETS CLONAL -SETD2 29072 mskcc.org GRCh37 3 47125376 47125377 + Frame_Shift_Del DEL CT CT - novel NA FAKE_P001_S6 FAKE_P001_N1 CT CT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.5893_5894delAG p.Ser1965GlnfsTer10 p.S1965Qfs*10 ENST00000409792 12/21 379 238 141 659 658 0 2 1 1 1 0.935 1 0 FACETS CLONAL -PIK3R1 5295 mskcc.org GRCh37 5 67591116 67591127 + In_Frame_Del DEL TTATCCAGCTGA TTATCCAGCTGA - novel NA FAKE_P001_S2 FAKE_P001_N1 TTATCCAGCTGA TTATCCAGCTGA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1709_1720delTTATCCAGCTGA p.Leu570_Leu573del p.L570_L573del ENST00000274335 12/15 91 43 48 342 341 0 2 1 1 1 0.969 1 0 FACETS CLONAL -PIK3R1 5295 mskcc.org GRCh37 5 67591116 67591127 + In_Frame_Del DEL TTATCCAGCTGA TTATCCAGCTGA - novel NA FAKE_P001_S3 FAKE_P001_N1 TTATCCAGCTGA TTATCCAGCTGA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1709_1720delTTATCCAGCTGA p.Leu570_Leu573del p.L570_L573del ENST00000274335 12/15 98 38 60 342 341 0 1 0 1 0.958 0.866 1 -1 FACETS SUBCLONAL -PIK3R1 5295 mskcc.org GRCh37 5 67591116 67591127 + In_Frame_Del DEL TTATCCAGCTGA - - novel NA FAKE_P001_S5 FAKE_P001_N1 TTATCCAGCTGA TTATCCAGCTGA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1709_1720delTTATCCAGCTGA p.Leu570_Leu573del p.L570_L573del ENST00000274335 12/15 48 5 43 342 341 0 2 1 2 0.999 0.932 1 0 FACETS CLONAL -PIK3R1 5295 mskcc.org GRCh37 5 67591116 67591127 + In_Frame_Del DEL TTATCCAGCTGA TTATCCAGCTGA - novel NA FAKE_P001_S6 FAKE_P001_N1 TTATCCAGCTGA TTATCCAGCTGA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.1709_1720delTTATCCAGCTGA p.Leu570_Leu573del p.L570_L573del ENST00000274335 12/15 98 31 67 342 341 0 2 1 2 0.933 0.855 1 0 FACETS CLONAL -PIK3R1 5295 mskcc.org GRCh37 5 67569289 67569290 + Frame_Shift_Del DEL GT GT - novel NA FAKE_P001_S2 FAKE_P001_N1 GT GT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA c.407_408delTG p.Val136GlyfsTer4 p.V136Gfs*4 ENST00000274335 2/15 171 153 18 508 506 0 2 1 1 0.277 0.209 0.355 0 FACETS CLONAL diff --git a/end-to-end-test/local/studies/ascn-test-study/meta_CNA.txt b/end-to-end-test/local/studies/ascn-test-study/meta_CNA.txt deleted file mode 100644 index 69dbd07f1f0..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/meta_CNA.txt +++ /dev/null @@ -1,8 +0,0 @@ -cancer_study_identifier: ascn_test_study -data_filename: data_CNA.txt -datatype: DISCRETE -genetic_alteration_type: COPY_NUMBER_ALTERATION -profile_description: Discrete Copy Number Data -profile_name: Discrete Copy Number Data -show_profile_in_analysis_tab: true -stable_id: cna diff --git a/end-to-end-test/local/studies/ascn-test-study/meta_clinical_patient.txt b/end-to-end-test/local/studies/ascn-test-study/meta_clinical_patient.txt deleted file mode 100644 index c4fcf25428b..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/meta_clinical_patient.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: ascn_test_study -genetic_alteration_type: CLINICAL -datatype: PATIENT_ATTRIBUTES -data_filename: data_clinical_patient.txt diff --git a/end-to-end-test/local/studies/ascn-test-study/meta_clinical_sample.txt b/end-to-end-test/local/studies/ascn-test-study/meta_clinical_sample.txt deleted file mode 100644 index d5c9a70eb42..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/meta_clinical_sample.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: ascn_test_study -genetic_alteration_type: CLINICAL -datatype: SAMPLE_ATTRIBUTES -data_filename: data_clinical_sample.txt diff --git a/end-to-end-test/local/studies/ascn-test-study/meta_mutations_extended.txt b/end-to-end-test/local/studies/ascn-test-study/meta_mutations_extended.txt deleted file mode 100644 index 70cad045db8..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/meta_mutations_extended.txt +++ /dev/null @@ -1,9 +0,0 @@ -cancer_study_identifier: ascn_test_study -data_filename: data_mutations_extended.txt -datatype: MAF -genetic_alteration_type: MUTATION_EXTENDED -profile_description: Mutation data -profile_name: Mutations -show_profile_in_analysis_tab: true -stable_id: mutations -namespaces: ASCN diff --git a/end-to-end-test/local/studies/ascn-test-study/meta_study.txt b/end-to-end-test/local/studies/ascn-test-study/meta_study.txt deleted file mode 100644 index 082cf5ea0e8..00000000000 --- a/end-to-end-test/local/studies/ascn-test-study/meta_study.txt +++ /dev/null @@ -1,5 +0,0 @@ -cancer_study_identifier: ascn_test_study -description: There is ASCN data in here. -groups: PUBLIC -name: ASCN Study -type_of_cancer: mel diff --git a/end-to-end-test/local/studies/genepanel_test_study/case_lists/cases_cna.txt b/end-to-end-test/local/studies/genepanel_test_study/case_lists/cases_cna.txt deleted file mode 100644 index 858b1a5e199..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/case_lists/cases_cna.txt +++ /dev/null @@ -1,5 +0,0 @@ -cancer_study_identifier: teststudy_genepanels -stable_id: teststudy_genepanels_cna -case_list_name: Samples profiled for mutations -case_list_description: This is this case list that contains all samples that are profiled for mutations. -case_list_ids: sample1 sample2 sample3 sample4 sample5 \ No newline at end of file diff --git a/end-to-end-test/local/studies/genepanel_test_study/case_lists/cases_sequenced.txt b/end-to-end-test/local/studies/genepanel_test_study/case_lists/cases_sequenced.txt deleted file mode 100644 index 8b0deab375e..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/case_lists/cases_sequenced.txt +++ /dev/null @@ -1,5 +0,0 @@ -cancer_study_identifier: teststudy_genepanels -stable_id: teststudy_genepanels_sequenced -case_list_name: Samples profiled for mutations -case_list_description: This is this case list that contains all samples that are profiled for mutations. -case_list_ids: sample1 sample2 sample3 sample4 sample5 \ No newline at end of file diff --git a/end-to-end-test/local/studies/genepanel_test_study/data_cancer_type.txt b/end-to-end-test/local/studies/genepanel_test_study/data_cancer_type.txt deleted file mode 100644 index 3af23f98dc7..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/data_cancer_type.txt +++ /dev/null @@ -1 +0,0 @@ -brca-es0 Breast Invasive Carcinoma HotPink Breast diff --git a/end-to-end-test/local/studies/genepanel_test_study/data_clinical_patients.txt b/end-to-end-test/local/studies/genepanel_test_study/data_clinical_patients.txt deleted file mode 100644 index b32eaa3d8b8..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/data_clinical_patients.txt +++ /dev/null @@ -1,6 +0,0 @@ -#Patient Identifier Overall Survival Status Overall Survival (Months) Disease Free Status Disease Free (Months) -#Patient identifier Overall survival status Overall survival in months since diagnosis Disease free status Disease free in months since treatment -#STRING STRING NUMBER STRING NUMBER -#1 1 1 1 1 -PATIENT_ID OS_STATUS OS_MONTHS DFS_STATUS DFS_MONTHS -patientA DECEASED 10 NA NA \ No newline at end of file diff --git a/end-to-end-test/local/studies/genepanel_test_study/data_clinical_samples.txt b/end-to-end-test/local/studies/genepanel_test_study/data_clinical_samples.txt deleted file mode 100644 index cd72cdd23ed..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/data_clinical_samples.txt +++ /dev/null @@ -1,10 +0,0 @@ -#Patient Identifier Sample Identifier Sample Type Sample Class Metastatic Site Primary Tumor Site SO comments Sample coverage Tumor Purity Oncotree Code Cancer Type Cancer Type Detailed Institute Source Somatic Status Gene Panel Number Treatment Lines Prior To Receiving Impact Results Stage At Diagnosis Driver Mutations Sample pre any Lung Therapy Recurrent/metastatic disease -#Identifier to uniquely specify a patient. A unique sample identifier. The type of sample (i.e., normal, primary, met, recurrence). The sample classification (i.e., tumor, cellline, xenograph). The anatomic location to which the cancer has spread. Text term to describe the organ sub-division in an individual with cancer. Sign-out comments Sample coverage Tumor Purity Oncotree Code Cancer Type Cancer Type Detailed Institute Source Somatic Status Gene panel. Number Treatment Lines Prior To Receiving Impact Results Stage At Diagnosis Driver Mutations Sample pre any Lung Therapy Recurrent/metastatic disease -#STRING STRING STRING STRING STRING STRING STRING NUMBER NUMBER STRING STRING STRING STRING STRING STRING NUMBER STRING STRING STRING STRING -#1 1 1 1 1 1 1 1 1 1 5 5 1 1 1 1 1 1 1 1 -PATIENT_ID SAMPLE_ID SAMPLE_TYPE SAMPLE_CLASS METASTATIC_SITE PRIMARY_SITE SO_COMMENTS SAMPLE_COVERAGE TUMOR_PURITY ONCOTREE_CODE CANCER_TYPE CANCER_TYPE_DETAILED INSTITUTE SOMATIC_STATUS GENE_PANEL LINES_OF_TX_PRIOR_IMPACT STAGE_AT_DIAGNOSIS DRIVER_MUTATIONS SAMPLE_PRE_LUNG_THERAPY RECURRENT_METASTATIC_DISEASE -patientA sample1 Primary Tumor Not Applicable Lung 380 30 LUAD Non-Small Cell Lung Cancer Lung Adenocarcinoma MSKCC Unmatched TESTPANEL1 0 IV ROS1 YES YES -patientA sample2 Primary Tumor Not Applicable Lung 14 LUAD Non-Small Cell Lung Cancer Lung Adenocarcinoma MSKCC Matched TESTPANEL1 (mut), TESTPANEL2 (CNA) 0 IA KRAS YES YES -patientA sample3 Primary Tumor Not Applicable Lung 866 50 LUAD Non-Small Cell Lung Cancer Lung Adenocarcinoma MSKCC Matched TESTPANEL2 (mut), N/A (CNA) 1 IV EGFR_WT_AMP NO YES -patientA sample4 Primary Tumor Not Applicable Lung 529 30 LUAD Non-Small Cell Lung Cancer Lung Adenocarcinoma MSKCC Matched N/A 0 IIIB PIK3CA YES YES -patientA sample5 etastasis Tumor Lymph Node Lung 883 20 LUAD Non-Small Cell Lung Cancer Lung Adenocarcinoma MSKCC Matched N/A (mut), TESTPANEL1 (CNA) 1 IV ERBB2 NO YES diff --git a/end-to-end-test/local/studies/genepanel_test_study/data_cna_discrete.txt b/end-to-end-test/local/studies/genepanel_test_study/data_cna_discrete.txt deleted file mode 100644 index 1d50450557b..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/data_cna_discrete.txt +++ /dev/null @@ -1,5 +0,0 @@ -Hugo_Symbol Entrez_Gene_Id sample1 sample2 sample3 sample4 sample5 -ABLIM1 -1 0 0 0 0 -CADM2 0 -2 0 0 -2 -ERBB2 0 0 -1 2 0 -PIEZO1 0 -2 0 0 0 diff --git a/end-to-end-test/local/studies/genepanel_test_study/data_cna_hg19.seg b/end-to-end-test/local/studies/genepanel_test_study/data_cna_hg19.seg deleted file mode 100644 index d7d912ca926..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/data_cna_hg19.seg +++ /dev/null @@ -1,6 +0,0 @@ -ID chrom loc.start loc.end num.mark seg.mean -sample1 1 3218610 95674710 53225 0.0055 -sample2 1 95676511 95676518 2 -1.6636 -sample3 1 95680124 167057183 24886 0.0053 -sample4 1 167057495 167059336 3 -1.0999 -sample5 1 167059760 181602002 9213 -8e-04 diff --git a/end-to-end-test/local/studies/genepanel_test_study/data_gene_panel_matrix.txt b/end-to-end-test/local/studies/genepanel_test_study/data_gene_panel_matrix.txt deleted file mode 100644 index 09b23ff0a7a..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/data_gene_panel_matrix.txt +++ /dev/null @@ -1,6 +0,0 @@ -SAMPLE_ID mutations gistic -sample1 TESTPANEL1 TESTPANEL1 -sample2 TESTPANEL1 TESTPANEL2 -sample3 TESTPANEL2 NA -sample4 NA NA -sample5 NA TESTPANEL1 diff --git a/end-to-end-test/local/studies/genepanel_test_study/data_gene_panel_testpanel1.txt b/end-to-end-test/local/studies/genepanel_test_study/data_gene_panel_testpanel1.txt deleted file mode 100644 index 5fdb78f6a00..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/data_gene_panel_testpanel1.txt +++ /dev/null @@ -1,3 +0,0 @@ -stable_id: TESTPANEL1 -description: Example gene panel meta file for testing purposes. -gene_list: ABLIM1 ADAMTS20 CADM2 DTNB KAT2A MSH3 MYB NPIPB15 OTOR P2RY10 diff --git a/end-to-end-test/local/studies/genepanel_test_study/data_gene_panel_testpanel2.txt b/end-to-end-test/local/studies/genepanel_test_study/data_gene_panel_testpanel2.txt deleted file mode 100644 index fa27d4b0ed4..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/data_gene_panel_testpanel2.txt +++ /dev/null @@ -1,3 +0,0 @@ -stable_id: TESTPANEL2 -description: Example gene panel meta file for testing purposes. -gene_list: CADM2 DTNB KAT2A MSH3 MYB NPIPB15 OTOR P2RY10 FGFR3 PIEZO1 \ No newline at end of file diff --git a/end-to-end-test/local/studies/genepanel_test_study/data_mutations_extended.maf b/end-to-end-test/local/studies/genepanel_test_study/data_mutations_extended.maf deleted file mode 100644 index 2689194eaae..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/data_mutations_extended.maf +++ /dev/null @@ -1,9 +0,0 @@ -#version 2.4 -Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer MA:FImpact MA:FIS Amino_Acid_Change MA:link.MSA MA:link.PDB MA:link.var Tumor_Sample_UUID Matched_Norm_Sample_UUID HGVSc HGVSp HGVSp_Short Transcript_ID Exon_Number t_depth t_ref_count t_alt_count n_depth n_ref_count n_alt_count all_effects Allele Gene Feature Feature_type Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation ALLELE_NUM DISTANCE SYMBOL SYMBOL_SOURCE HGNC_ID BIOTYPE CANONICAL CCDS ENSP SWISSPROT TREMBL UNIPARC RefSeq SIFT PolyPhen EXON INTRON DOMAINS GMAF AFR_MAF AMR_MAF ASN_MAF EAS_MAF EUR_MAF SAS_MAF AA_MAF EA_MAF CLIN_SIG SOMATIC PUBMED MOTIF_NAME MOTIF_POS HIGH_INF_POS MOTIF_SCORE_CHANGE IMPACT PICK VARIANT_CLASS TSL HGVS_OFFSET PHENO chromosome_name_wu start_wu stop_wu reference_wu variant_wu type_wu gene_name_wu transcript_name_wu transcript_species_wu transcript_source_wu transcript_version_wu strand_wu transcript_status_wu trv_type_wu c_position_wu amino_acid_change_wu ucsc_cons_wu domain_wu all_domains_wu deletion_substructures_wu transcript_error_wu default_gene_name_wu gene_name_source_wu ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf evs_ea evs_aa evs_all chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU EVS_EA EVS_AA EVS_All -ABLIM1 genome.wustl.edu GRCh37 10 116247760 116247760 -1 Missense_Mutation SNP T T C sample1 normal1 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx medium 3.39 H333R getma.org/?cm=msa&ty=f&p=ABLM1_HUMAN&rb=285&re=339&var=H333R getma.org/pdb.php?prot=ABLM1_HUMAN&from=285&to=339&var=H333R getma.org/?cm=var&var=hg19,10,116247760,T,C&fts=all db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 c.998A>G p.His333Arg p.H333R ENST00000277895 8/23 0 1000 1010 0 ABLIM1,missense_variant,p.His273Arg,ENST00000533213,;ABLIM1,missense_variant,p.His273Arg,ENST00000369252,NM_001003408.1,NM_001003407.1;ABLIM1,missense_variant,p.His17Arg,ENST00000392952,NM_006720.3;ABLIM1,missense_variant,p.His17Arg,ENST00000369266,;ABLIM1,missense_variant,p.His333Arg,ENST00000277895,NM_002313.5;ABLIM1,missense_variant,p.His17Arg,ENST00000369253,;ABLIM1,missense_variant,p.His17Arg,ENST00000428430,;ABLIM1,upstream_gene_variant,,ENST00000440467,;ABLIM1,missense_variant,p.His273Arg,ENST00000392955,;ABLIM1,missense_variant,p.His273Arg,ENST00000369256,; C ENSG00000099204 ENST00000277895 Transcript missense_variant 1096/2657 998/2337 333/778 H/R cAt/cGt COSM1474374,COSM1474373,COSM1474375 1 ABLIM1 HGNC 78 protein_coding YES CCDS7590.1 ENSP00000277895 ABLM1_HUMAN UPI0000418D06 NM_002313.5 deleterious(0) probably_damaging(0.988) 8/23 PROSITE_profiles:PS50023,hmmpanther:PTHR24213:SF18,hmmpanther:PTHR24213,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716 1,1,1 MODERATE 1 SNV 1,1,1 10 116247760 116247760 T C SNP ABLIM1 ENST00000277895 human ensembl 69_37n -1 known missense c.998 p.H333R 1000 smart_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 77 0 0 36 13 26.53 - - - 10 116247760 116247760 T C SNP ABLIM1 ENST00000277895 human ensembl 69_37n -1 known missense c.998 p.H333R 1000 smart_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC - - - -ABLIM1 genome.wustl.edu GRCh37 10 116247760 116247760 -1 Missense_Mutation SNP T T C sample2 normal2 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx medium 3.39 H333R getma.org/?cm=msa&ty=f&p=ABLM1_HUMAN&rb=285&re=339&var=H333R getma.org/pdb.php?prot=ABLM1_HUMAN&from=285&to=339&var=H333R getma.org/?cm=var&var=hg19,10,116247760,T,C&fts=all db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 c.998A>G p.His333Arg p.H333R ENST00000277895 8/23 0 2000 2010 0 ABLIM1,missense_variant,p.His273Arg,ENST00000533213,;ABLIM1,missense_variant,p.His273Arg,ENST00000369252,NM_001003408.1,NM_001003407.1;ABLIM1,missense_variant,p.His17Arg,ENST00000392952,NM_006720.3;ABLIM1,missense_variant,p.His17Arg,ENST00000369266,;ABLIM1,missense_variant,p.His333Arg,ENST00000277895,NM_002313.5;ABLIM1,missense_variant,p.His17Arg,ENST00000369253,;ABLIM1,missense_variant,p.His17Arg,ENST00000428430,;ABLIM1,upstream_gene_variant,,ENST00000440467,;ABLIM1,missense_variant,p.His273Arg,ENST00000392955,;ABLIM1,missense_variant,p.His273Arg,ENST00000369256,; C ENSG00000099204 ENST00000277895 Transcript missense_variant 1096/2657 998/2337 333/778 H/R cAt/cGt COSM1474374,COSM1474373,COSM1474375 1 ABLIM1 HGNC 78 protein_coding YES CCDS7590.1 ENSP00000277895 ABLM1_HUMAN UPI0000418D06 NM_002313.5 deleterious(0) probably_damaging(0.988) 8/23 PROSITE_profiles:PS50023,hmmpanther:PTHR24213:SF18,hmmpanther:PTHR24213,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716 1,1,1 MODERATE 1 SNV 1,1,1 10 116247760 116247760 T C SNP ABLIM1 ENST00000277895 human ensembl 69_37n -1 known missense c.998 p.H333R 1000 smart_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 77 0 0 36 13 26.53 - - - 10 116247760 116247760 T C SNP ABLIM1 ENST00000277895 human ensembl 69_37n -1 known missense c.998 p.H333R 1000 smart_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC - - - -ABLIM1 genome.wustl.edu GRCh37 10 116247760 116247760 -1 Missense_Mutation SNP T T C sample3 normal3 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx medium 3.39 H333R getma.org/?cm=msa&ty=f&p=ABLM1_HUMAN&rb=285&re=339&var=H333R getma.org/pdb.php?prot=ABLM1_HUMAN&from=285&to=339&var=H333R getma.org/?cm=var&var=hg19,10,116247760,T,C&fts=all db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 c.998A>G p.His333Arg p.H333R ENST00000277895 8/23 0 3000 3010 0 ABLIM1,missense_variant,p.His273Arg,ENST00000533213,;ABLIM1,missense_variant,p.His273Arg,ENST00000369252,NM_001003408.1,NM_001003407.1;ABLIM1,missense_variant,p.His17Arg,ENST00000392952,NM_006720.3;ABLIM1,missense_variant,p.His17Arg,ENST00000369266,;ABLIM1,missense_variant,p.His333Arg,ENST00000277895,NM_002313.5;ABLIM1,missense_variant,p.His17Arg,ENST00000369253,;ABLIM1,missense_variant,p.His17Arg,ENST00000428430,;ABLIM1,upstream_gene_variant,,ENST00000440467,;ABLIM1,missense_variant,p.His273Arg,ENST00000392955,;ABLIM1,missense_variant,p.His273Arg,ENST00000369256,; C ENSG00000099204 ENST00000277895 Transcript missense_variant 1096/2657 998/2337 333/778 H/R cAt/cGt COSM1474374,COSM1474373,COSM1474375 1 ABLIM1 HGNC 78 protein_coding YES CCDS7590.1 ENSP00000277895 ABLM1_HUMAN UPI0000418D06 NM_002313.5 deleterious(0) probably_damaging(0.988) 8/23 PROSITE_profiles:PS50023,hmmpanther:PTHR24213:SF18,hmmpanther:PTHR24213,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716 1,1,1 MODERATE 1 SNV 1,1,1 10 116247760 116247760 T C SNP ABLIM1 ENST00000277895 human ensembl 69_37n -1 known missense c.998 p.H333R 1000 smart_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 77 0 0 36 13 26.53 - - - 10 116247760 116247760 T C SNP ABLIM1 ENST00000277895 human ensembl 69_37n -1 known missense c.998 p.H333R 1000 smart_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC - - - -CADM2 genome.wustl.edu GRCh37 3 85932472 85932472 1 Missense_Mutation SNP C C T sample2 normal2 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 p.R81R ENST00000407528 3/10 0 4000 4010 0 CADM2,synonymous_variant,p.=,ENST00000383699,NM_001167675.1,NM_001256504.1,NM_001256505.1;CADM2,synonymous_variant,,ENST00000407528,NM_001167674.1;CADM2,synonymous_variant,p.=,ENST00000405615,NM_153184.3; T ENSG00000175161 ENST00000407528 Transcript synonymous_variant 305/1422 243/1308 81/435 R cgC/cgT COSM1178952,COSM1178953 1 CADM2 HGNC 29849 protein_coding CCDS54614.1 ENSP00000384575 CADM2_HUMAN G3XHN8_HUMAN UPI000006DE82 NM_001167674.1 3/10 PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 1,1 LOW SNV 1,1 3 85932472 85932472 C T SNP CADM2 ENST00000405615 human ensembl 69_37n 1 known silent c.249 p.R83 920 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM2 HGNC ENSG00000175161 57 0 0 22 23 51.11 - - - 3 85932472 85932472 C T SNP CADM2 ENST00000405615 human ensembl 69_37n 1 known silent c.249 p.R83 920 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM2 HGNC - - - -CADM2 genome.wustl.edu GRCh37 3 85932472 85932472 1 Missense_Mutation SNP C C T sample3 normal3 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 p.R81R ENST00000407528 3/10 0 5000 5010 0 CADM2,synonymous_variant,p.=,ENST00000383699,NM_001167675.1,NM_001256504.1,NM_001256505.1;CADM2,synonymous_variant,,ENST00000407528,NM_001167674.1;CADM2,synonymous_variant,p.=,ENST00000405615,NM_153184.3; T ENSG00000175161 ENST00000407528 Transcript synonymous_variant 305/1422 243/1308 81/435 R cgC/cgT COSM1178952,COSM1178953 1 CADM2 HGNC 29849 protein_coding CCDS54614.1 ENSP00000384575 CADM2_HUMAN G3XHN8_HUMAN UPI000006DE82 NM_001167674.1 3/10 PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 1,1 LOW SNV 1,1 3 85932472 85932472 C T SNP CADM2 ENST00000405615 human ensembl 69_37n 1 known silent c.249 p.R83 920 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM2 HGNC ENSG00000175161 57 0 0 22 23 51.11 - - - 3 85932472 85932472 C T SNP CADM2 ENST00000405615 human ensembl 69_37n 1 known silent c.249 p.R83 920 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM2 HGNC - - - -ERBB2 genome.wustl.edu GRCh37 12 43944926 43944926 -1 Missense_Mutation SNP T T C sample4 normal4 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx medium 2.85 Y80C getma.org/?cm=msa&ty=f&p=ATS20_HUMAN&rb=40&re=186&var=Y80C getma.org/?cm=var&var=hg19,12,43944926,T,C&fts=all db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 p.Tyr80Cys p.Y80C ENST00000389420 2/39 0 6000 6010 0 ADAMTS20,missense_variant,p.Tyr80Cys,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Tyr80Cys,ENST00000553158,; C ENSG00000173157 ENST00000389420 Transcript missense_variant 239/6076 239/5733 80/1910 Y/C tAt/tGt COSM1476552,COSM1476551 1 ADAMTS20 HGNC 17178 protein_coding YES CCDS31778.2 ENSP00000374071 ATS20_HUMAN UPI00004565F4 NM_025003.3 deleterious(0) probably_damaging(1) 2/39 hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF01562 1,1 MODERATE 1 SNV 1,1 12 43944926 43944926 T C SNP ADAMTS20 ENST00000389420 human ensembl 69_37n -1 known missense c.239 p.Y80C 1000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS20 HGNC ENSG00000173157 50 0 0 19 17 45.95 - - - 12 43944926 43944926 T C SNP ADAMTS20 ENST00000389420 human ensembl 69_37n -1 known missense c.239 p.Y80C 1000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS20 HGNC - - - -PIEZO1 genome.wustl.edu GRCh37 16 88790292 88790292 -1 Missense_Mutation SNP T T C sample3 normal5 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx low 1.18 Q1441R getma.org/?cm=msa&ty=f&p=PIEZ1_HUMAN&rb=58&re=1627&var=Q1441R getma.org/?cm=var&var=hg19,16,88790292,T,C&fts=all db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 c.4322A>G p.Gln1441Arg p.Q1441R ENST00000301015 31/51 0 7000 7010 0 PIEZO1,missense_variant,p.Gln1441Arg,ENST00000301015,NM_001142864.2;PIEZO1,missense_variant,p.Gln115Arg,ENST00000474606,;PIEZO1,upstream_gene_variant,,ENST00000327397,;PIEZO1,upstream_gene_variant,,ENST00000466823,;RP5-1142A6.9,downstream_gene_variant,,ENST00000564984,;PIEZO1,non_coding_transcript_exon_variant,,ENST00000566414,;PIEZO1,upstream_gene_variant,,ENST00000419505,;PIEZO1,upstream_gene_variant,,ENST00000497793,;PIEZO1,upstream_gene_variant,,ENST00000495568,;PIEZO1,downstream_gene_variant,,ENST00000475586,;PIEZO1,downstream_gene_variant,,ENST00000491917,; C ENSG00000103335 ENST00000301015 Transcript missense_variant 4569/8072 4322/7566 1441/2521 Q/R cAg/cGg COSM1479166 1 PIEZO1 HGNC 28993 protein_coding YES CCDS54058.1 ENSP00000301015 PIEZ1_HUMAN UPI0001B300F3 NM_001142864.2 tolerated(0.25) possibly_damaging(0.78) 31/51 hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF40 1 MODERATE 1 SNV 1 16 88790292 88790292 T C SNP PIEZO1 ENST00000301015 human ensembl 69_37n -1 novel missense c.4322 p.Q1441R 1000 pfam_DUF3595 - no_errors PIEZO1 HGNC ENSG00000103335 37 0 0 20 8 28.57 - - - 16 88790292 88790292 T C SNP PIEZO1 ENST00000301015 human ensembl 69_37n -1 novel missense c.4322 p.Q1441R 1000 pfam_DUF3595 - no_errors PIEZO1 HGNC - - - diff --git a/end-to-end-test/local/studies/genepanel_test_study/meta_cancer_type.txt b/end-to-end-test/local/studies/genepanel_test_study/meta_cancer_type.txt deleted file mode 100644 index a4cae8fdf71..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/meta_cancer_type.txt +++ /dev/null @@ -1,3 +0,0 @@ -genetic_alteration_type: CANCER_TYPE -datatype: CANCER_TYPE -data_filename: data_cancer_type.txt diff --git a/end-to-end-test/local/studies/genepanel_test_study/meta_clinical_patients.txt b/end-to-end-test/local/studies/genepanel_test_study/meta_clinical_patients.txt deleted file mode 100644 index 09103d46786..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/meta_clinical_patients.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: teststudy_genepanels -genetic_alteration_type: CLINICAL -datatype: PATIENT_ATTRIBUTES -data_filename: data_clinical_patients.txt diff --git a/end-to-end-test/local/studies/genepanel_test_study/meta_clinical_samples.txt b/end-to-end-test/local/studies/genepanel_test_study/meta_clinical_samples.txt deleted file mode 100644 index df862f2c407..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/meta_clinical_samples.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: teststudy_genepanels -genetic_alteration_type: CLINICAL -datatype: SAMPLE_ATTRIBUTES -data_filename: data_clinical_samples.txt diff --git a/end-to-end-test/local/studies/genepanel_test_study/meta_cna_discrete.txt b/end-to-end-test/local/studies/genepanel_test_study/meta_cna_discrete.txt deleted file mode 100644 index 8e41ecb6d94..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/meta_cna_discrete.txt +++ /dev/null @@ -1,8 +0,0 @@ -cancer_study_identifier: teststudy_genepanels -genetic_alteration_type: COPY_NUMBER_ALTERATION -datatype: DISCRETE -stable_id: gistic -show_profile_in_analysis_tab: true -profile_description: Putative copy-number from GISTIC 2.0. Values: -2 = homozygous deletion; -1 = hemizygous deletion; 0 = neutral / no change; 1 = gain; 2 = high level amplification. -profile_name: Putative copy-number alterations from GISTIC -data_filename: data_cna_discrete.txt diff --git a/end-to-end-test/local/studies/genepanel_test_study/meta_cna_hg19_seg.txt b/end-to-end-test/local/studies/genepanel_test_study/meta_cna_hg19_seg.txt deleted file mode 100644 index 63f12a24f5b..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/meta_cna_hg19_seg.txt +++ /dev/null @@ -1,6 +0,0 @@ -cancer_study_identifier: teststudy_genepanels -genetic_alteration_type: COPY_NUMBER_ALTERATION -datatype: SEG -reference_genome_id: hg19 -description: Somatic CNA data (copy number ratio from tumor samples minus ratio from matched normals) from TCGA. -data_filename: data_cna_hg19.seg diff --git a/end-to-end-test/local/studies/genepanel_test_study/meta_gene_panel_matrix.txt b/end-to-end-test/local/studies/genepanel_test_study/meta_gene_panel_matrix.txt deleted file mode 100644 index 96bc07c8f0a..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/meta_gene_panel_matrix.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: teststudy_genepanels -genetic_alteration_type: GENE_PANEL_MATRIX -datatype: GENE_PANEL_MATRIX -data_filename: data_gene_panel_matrix.txt diff --git a/end-to-end-test/local/studies/genepanel_test_study/meta_mutations_extended.txt b/end-to-end-test/local/studies/genepanel_test_study/meta_mutations_extended.txt deleted file mode 100644 index ff629e11922..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/meta_mutations_extended.txt +++ /dev/null @@ -1,9 +0,0 @@ -cancer_study_identifier: teststudy_genepanels -genetic_alteration_type: MUTATION_EXTENDED -datatype: MAF -stable_id: mutations -show_profile_in_analysis_tab: true -profile_description: Mutation data from whole exome sequencing. -profile_name: Mutations -data_filename: data_mutations_extended.maf -swissprot_identifier: name diff --git a/end-to-end-test/local/studies/genepanel_test_study/meta_study.txt b/end-to-end-test/local/studies/genepanel_test_study/meta_study.txt deleted file mode 100644 index b1bfca7373c..00000000000 --- a/end-to-end-test/local/studies/genepanel_test_study/meta_study.txt +++ /dev/null @@ -1,8 +0,0 @@ -type_of_cancer: brca-es0 -cancer_study_identifier: teststudy_genepanels -name: genepanels_demo -description: Multiple gene panels per study -citation: Cell 2018 -pmid: 29625048,29596782,29622463,29617662,29625055,29625050 -groups: PUBLIC;GDAC;SU2C-PI3K -add_global_case_list: true diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/LICENSE b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/LICENSE deleted file mode 100644 index d5f3c4b5357..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/LICENSE +++ /dev/null @@ -1 +0,0 @@ -The data are available under the ODC Open Database License (ODbL)(http://opendatacommons.org/licenses/odbl/1.0/) (summary available here: http://www.opendatacommons.org/licenses/odbl/1-0/summary/): you are free to share and modify the data so long as you attribute any public use of the database, or works produced from the database; keep the resulting data-sets open; and offer your shared or adapted version of the data-set under the same ODbL license. diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/case_lists/cases_all.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/case_lists/cases_all.txt deleted file mode 100644 index cb5fbf45c0e..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/case_lists/cases_all.txt +++ /dev/null @@ -1,6 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -stable_id: lgg_ucsf_2014_test_generic_assay_all -case_list_name: All samples -case_list_description: All samples (61 samples) -case_list_category: all_cases_in_study -case_list_ids: P17_Pri_B P17_Pri_C P28_Rec P17_Pri_A P13_Rec P07_Rec P26_Pri_B P26_Pri_A P18_Pri_A P18_Pri_C P18_Pri_B P18_Pri_D P02_Pri P16_Rec P11_Rec P01_Pri P26_Rec1_B P26_Rec1_A P24_Rec2 P05_Pri P08_Pri P27_Pri_A P24_Rec1 P12_Rec P25_Pri P29_Pri P07_Pri P06_Rec P15_Pri P27_Rec1_A P11_Pri P17_Rec1_A P28_Pri P04_Rec1 P04_Pri P04_Rec3 P04_Rec2 P09_Rec P10_Rec P24_Pri P25_Rec P21_Rec P27_Rec1_B P29_Rec P05_Rec P02_Rec P13_Pri P18_Rec P08_Rec P16_Pri P12_Pri P09_Pri P21_Pri P01_Rec P10_Pri P27_Pri_B P17_Rec1_C P17_Rec1_B P15_Rec P06_Pri P17_Rec1_D diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/case_lists/cases_sequenced.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/case_lists/cases_sequenced.txt deleted file mode 100644 index 935b7df786a..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/case_lists/cases_sequenced.txt +++ /dev/null @@ -1,6 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -stable_id: lgg_ucsf_2014_test_generic_assay_sequenced -case_list_name: Samples with mutation data -case_list_description: Samples with mutation data (61 samples) -case_list_category: all_cases_with_mutation_data -case_list_ids: P17_Pri_B P17_Pri_C P17_Pri_A P09_Pri P21_Rec P26_Pri_B P26_Pri_A P18_Pri_A P18_Pri_C P18_Pri_B P18_Pri_D P02_Pri P16_Rec P11_Rec P17_Rec1_B P01_Pri P26_Rec1_B P26_Rec1_A P01_Rec P05_Pri P08_Pri P27_Pri_A P10_Pri P05_Rec P12_Rec P25_Pri P02_Rec P07_Pri P06_Rec P15_Pri P28_Pri P04_Rec1 P04_Pri P04_Rec3 P04_Rec2 P09_Rec P07_Rec P10_Rec P21_Pri P24_Pri P15_Rec P25_Rec P11_Pri P08_Rec P29_Rec P27_Rec1_B P29_Pri P13_Pri P18_Rec P12_Pri P16_Pri P13_Rec P28_Rec P24_Rec2 P24_Rec1 P27_Pri_B P17_Rec1_C P27_Rec1_A P17_Rec1_A P06_Pri P17_Rec1_D diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_HLA.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_HLA.txt deleted file mode 100644 index b6d182dc8c4..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_HLA.txt +++ /dev/null @@ -1,9 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION P01 P02 P04 P05 P06 P07 P08 P09 P10 P11 P12 P13 P15 P16 P17 P18 P21 P24 P25 P26 P27 P28 P29 -HLA-A HLA-A Polysolver HLA-A A0201/A3101 A2402/A2601 A0201/A0301 A0201/A0201 A2402/A2402 A0101/A0301 A0206/A6802 A1101/A2402 A0101/A2402 A0101/A2902 A0301/A3201 A2902/A3201 A0101/A0201 A0301/A1101 A0201/A2601 A0301/A1101 A0201/A2601 A0201/A2402 A0201/A2301 A0101/A0201 A2402/A2601 A0301/A2402 A0101/A0101 -HLA-B HLA-B Polysolver HLA-B B3502/B3906 B1801/B4403 B4101/B5001 B1801/B5701 B3502/B4402 B0702/B4402 B1801/B4801 B3501/B5101 B3508/B4402 B0801/B4403 B3501/B4101 B4402/B4501 B0702/B3901 B0702/B0702 B0702/B1801 B5101/B5501 B2705/B5701 B4402/B5101 B4002/B5001 B3901/B3906 B3801/B4901 B2705/B3906 B0702/B0702 -HLA-C HLA-C Polysolver HLA-C C0401/C0702 C1203/C1601 C0602/C1701 C0602/C1203 C0401/C1604 C0501/C0702 C0501/C0803 C0102/C0401 C0401/C0501 C0701/C1601 C0401/C1701 C0501/C0602 C0702/C1203 C0702/C0702 C0702/C1203 C0102/C0303 C0102/C0602 C0102/C0501 C0202/C0701 C0602/C1203 C0701/C1203 C0401/C0702 C0702/C0702 -HLA_DPA1 HLA_DPA1 HLA_DPA1 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0201 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0201 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0201 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0201 DPA1_0103/DPA1_0103 DPA1_0103/DPA1_0103 -HLA_DPB1 HLA_DPB1 HLA_DPB1 DPB1_0301/DPB1_0401 DPB1_0401/DPB1_0401 DPB1_0201/DPB1_1301 DPB1_0401/DPB1_10401 DPB1_0201/DPB1_0401 DPB1_0101/DPB1_0401 DPB1_0201/DPB1_0202 DPB1_0202/DPB1_0401 DPB1_0301/DPB1_0401 DPB1_0401/DPB1_1101 DPB1_1001/DPB1_10401 DPB1_0201/DPB1_0401 DPB1_0401/DPB1_0401 DPB1_0401/DPB1_1101 DPB1_0201/DPB1_0402 DPB1_0201/DPB1_0402 DPB1_0201/DPB1_0402 DPB1_0201/DPB1_0201 DPB1_0401/DPB1_1301 DPB1_0401/DPB1_0401 DPB1_0401/DPB1_0401 DPB1_0401/DPB1_0401 DPB1_0201/DPB1_0401 -HLA_DQA1 HLA_DQA1 HLA_DQA1 DQA1_0301/DQA1_0401 DQA1_0102/DQA1_0201 DQA1_0201/DQA1_0501 DQA1_0201/DQA1_0505 DQA1_0105/DQA1_0505 DQA1_0301/DQA1_0505 DQA1_0301/DQA1_0501 DQA1_0102/DQA1_0104 DQA1_0103/DQA1_0105 DQA1_0201/DQA1_0501 DQA1_0501/DQA1_0505 DQA1_0201/DQA1_0301 DQA1_0101/DQA1_0101 DQA1_0102/DQA1_0102 DQA1_0102/DQA1_0102 DQA1_0103/DQA1_0505 DQA1_0101/DQA1_0201 DQA1_0505/DQA1_0505 DQA1_0201/DQA1_0505 DQA1_0101/DQA1_0102 DQA1_0103/DQA1_0505 DQA1_0101/DQA1_0101 DQA1_0102/DQA1_0505 -HLA_DQB1 HLA_DQB1 HLA_DQB1 DQB1_0305/DQB1_0402 DQB1_0602/DQB1_0602 DQB1_0201/DQB1_0202 DQB1_0301/DQB1_0303 DQB1_0301/DQB1_0501 DQB1_0301/DQB1_0302 DQB1_0201/DQB1_0301 DQB1_0503/DQB1_0602 DQB1_0501/DQB1_0603 DQB1_0202/DQB1_0202 DQB1_0201/DQB1_0301 DQB1_0202/DQB1_0302 DQB1_0302/DQB1_0501 DQB1_0602/DQB1_0602 DQB1_0602/DQB1_0602 DQB1_0603/DQB1_0603 DQB1_0303/DQB1_0501 DQB1_0301/DQB1_0301 DQB1_0301/DQB1_0303 DQB1_0602/DQB1_0602 DQB1_0603/DQB1_0603 DQB1_0301/DQB1_0501 DQB1_0602/DQB1_0602 -HLA_DRB1 HLA_DRB1 HLA_DRB1 DRB1_0403/DRB1_0801 DRB1_0701/DRB1_1501 DRB1_0301/DRB1_0701 DRB1_0901/DRB1_1101 DRB1_1001/DRB1_1104 DRB1_0401/DRB1_1104 DRB1_0301/DRB1_0403 DRB1_1454/DRB1_1501 DRB1_1301/DRB1_1301 DRB1_0301/DRB1_0901 DRB1_0301/DRB1_0801 DRB1_0403/DRB1_0701 DRB1_0101/DRB1_0404 DRB1_1501/DRB1_1501 DRB1_1501/DRB1_1501 DRB1_1101/DRB1_1301 DRB1_0101/DRB1_0701 DRB1_0801/DRB1_1101 DRB1_0701/DRB1_1104 DRB1_1104/DRB1_1501 DRB1_1301/DRB1_1301 DRB1_0101/DRB1_0401 DRB1_1104/DRB1_1501 \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_armlevel_CNA.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_armlevel_CNA.txt deleted file mode 100644 index 9c1f400a41e..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_armlevel_CNA.txt +++ /dev/null @@ -1,40 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A P17_Pri_B P17_Pri_C P17_Rec1_A P17_Rec1_B P17_Rec1_C P17_Rec1_D P18_Pri_A P18_Pri_B P18_Pri_C P18_Pri_D P18_Rec P21_Pri P21_Rec P24_Pri P24_Rec1 P24_Rec2 P25_Pri P25_Rec P26_Pri_A P26_Pri_B P26_Rec1_A P26_Rec1_B P27_Pri_A P27_Pri_B P27_Rec1_A P27_Rec1_B P28_Pri P28_Rec P29_Pri P29_Rec -1p_status 1p Copy number status of 1p Loss Unchanged Unchanged Unchanged Unchanged Loss NA Unchanged Unchanged Unchanged Loss Unchanged Loss Unchanged NA Unchanged NA Unchanged Unchanged NA NA Loss NA Unchanged Unchanged Unchanged Unchanged Loss Loss NA Gain Unchanged NA Unchanged Unchanged Unchanged Unchanged Unchanged NA Unchanged Unchanged Unchanged Loss Loss Unchanged Unchanged Loss NA NA NA Unchanged NA Unchanged Loss Unchanged Loss Loss NA Loss Unchanged Unchanged -1q_status 1q Copy number status of 1q Gain Unchanged Gain Unchanged NA Gain Gain Gain Unchanged Gain Gain Unchanged NA Gain Gain Unchanged NA Gain Gain Loss Gain Gain NA Unchanged Gain Unchanged Gain Gain Gain Gain Gain Unchanged Gain Loss Gain Gain Gain NA Gain Unchanged Gain Unchanged Gain NA Unchanged Gain Gain Gain NA Gain Unchanged NA Gain Gain Gain Gain Gain NA NA Unchanged Unchanged -2p_status 2p Copy number status of 2p Loss Loss Unchanged Unchanged Loss Gain Gain Unchanged Loss Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged NA Unchanged Unchanged Unchanged NA Unchanged Unchanged NA Gain Unchanged NA Unchanged Unchanged Unchanged Gain Unchanged Unchanged Unchanged Unchanged Unchanged Loss Loss Unchanged Loss Unchanged Unchanged NA Gain Unchanged Loss Unchanged Unchanged Unchanged Unchanged Loss NA Loss Unchanged Unchanged -2q_status 2q Copy number status of 2q NA Loss Unchanged Unchanged Loss Unchanged NA Unchanged NA Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Loss NA Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged NA Gain Unchanged Gain Unchanged Unchanged Unchanged Gain Unchanged Unchanged Unchanged Unchanged Unchanged Loss Loss Unchanged Loss NA Gain NA NA Unchanged Loss Unchanged Unchanged Unchanged Unchanged Loss NA Loss Unchanged Unchanged -3p_status 3p Copy number status of 3p Unchanged Unchanged Unchanged Unchanged Loss NA Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged NA Unchanged NA Unchanged Unchanged Loss Unchanged Unchanged NA Loss Unchanged Unchanged NA NA Unchanged NA Loss Unchanged Unchanged Unchanged Unchanged Unchanged Loss NA Unchanged Unchanged Unchanged Unchanged Unchanged NA Unchanged Gain Loss Loss NA Loss NA Loss Unchanged Loss Unchanged Unchanged Loss NA Loss Unchanged Unchanged -3q_status 3q Copy number status of 3q Unchanged Unchanged NA Unchanged Unchanged Gain Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged NA Gain NA Unchanged Unchanged Unchanged NA Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged NA Gain Unchanged Unchanged Unchanged Unchanged Unchanged NA Gain Unchanged Unchanged Unchanged Unchanged Unchanged Loss Unchanged Gain NA Gain NA Gain Loss NA Unchanged Unchanged Unchanged Unchanged Loss NA Loss Unchanged Unchanged -4p_status 4p Copy number status of 4p Gain Unchanged Unchanged Unchanged Loss Loss Loss Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Loss Gain Loss Unchanged Loss NA Unchanged Unchanged Unchanged NA Unchanged NA NA Loss Unchanged Unchanged Unchanged Unchanged Unchanged Loss Loss Unchanged Unchanged Unchanged Unchanged Loss Gain Gain Loss Loss Unchanged NA Loss Unchanged Loss Unchanged Unchanged Unchanged Unchanged Unchanged NA Loss Unchanged Unchanged -4q_status 4q Copy number status of 4q NA Unchanged Unchanged Unchanged Loss NA Loss Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Loss Gain Loss Unchanged Loss NA Unchanged Unchanged Unchanged NA Unchanged Unchanged NA NA Unchanged Loss Unchanged Unchanged Unchanged NA Loss Unchanged Unchanged Unchanged Unchanged Loss Gain Gain Loss Loss Unchanged NA Loss Unchanged Loss Unchanged Unchanged NA Unchanged Unchanged NA Loss Unchanged Unchanged -5p_status 5p Copy number status of 5p Gain Gain Gain Unchanged Unchanged Gain NA Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Gain Unchanged Unchanged Gain NA Gain Unchanged Unchanged NA Unchanged Unchanged Gain NA Unchanged Gain Unchanged Unchanged Unchanged Loss Loss Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Gain NA Gain Unchanged NA Unchanged Unchanged Unchanged Gain Gain NA Gain Unchanged Unchanged -5q_status 5q Copy number status of 5q Gain Gain Gain Unchanged Unchanged NA Unchanged Unchanged Unchanged Unchanged NA Unchanged Unchanged Unchanged Unchanged Unchanged NA NA Gain Loss Unchanged Gain NA Loss Unchanged Unchanged NA Loss Unchanged Loss Loss Unchanged Loss Unchanged Unchanged Unchanged Loss Loss Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Loss NA Loss Loss Loss Unchanged Unchanged Unchanged Gain Unchanged NA NA Unchanged Unchanged -6p_status 6p Copy number status of 6p Gain Unchanged NA Unchanged Unchanged Unchanged NA Unchanged Unchanged Unchanged Gain Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged NA Unchanged Unchanged NA Loss Unchanged Unchanged NA Unchanged Unchanged Gain Unchanged Unchanged Loss Gain Unchanged Unchanged Gain Unchanged Unchanged Unchanged Loss NA Loss NA Loss Loss Unchanged Unchanged NA NA Unchanged NA Unchanged Loss Unchanged Unchanged Loss NA Gain Unchanged Unchanged -6q_status 6q Copy number status of 6q Loss Unchanged Unchanged Unchanged Loss Loss NA Unchanged Unchanged Unchanged Loss Unchanged Unchanged Loss Unchanged NA Unchanged Unchanged NA Unchanged Unchanged Loss NA Gain Unchanged Unchanged NA Unchanged Loss Loss Loss NA Loss Loss Unchanged Unchanged Gain NA Unchanged Unchanged Loss Loss Loss Loss Loss Loss Unchanged NA NA NA Unchanged Unchanged Unchanged Loss Unchanged Unchanged Loss NA Gain Unchanged Unchanged -7p_status 7p Copy number status of 7p Unchanged Unchanged Gain Unchanged Unchanged Gain Unchanged Unchanged Unchanged Unchanged Loss Unchanged Unchanged Unchanged Gain Unchanged Unchanged Unchanged Gain Loss Unchanged Gain NA Unchanged Unchanged Unchanged NA Unchanged Unchanged NA Loss Unchanged Gain Unchanged Unchanged Unchanged NA Loss Unchanged Unchanged Unchanged Unchanged Unchanged Gain Unchanged Gain Loss Unchanged NA NA Loss NA Unchanged Loss Unchanged Unchanged Unchanged NA NA Unchanged Unchanged -7q_status 7q Copy number status of 7q Unchanged Unchanged Gain Unchanged Unchanged Gain Unchanged Unchanged Unchanged Unchanged Loss Unchanged Unchanged Unchanged Gain Unchanged Unchanged Unchanged Unchanged NA Unchanged NA NA Unchanged Unchanged Unchanged NA Unchanged Unchanged Unchanged Gain Unchanged Gain NA Unchanged Unchanged Gain Loss Unchanged Unchanged Unchanged Unchanged Unchanged NA Unchanged Gain NA Unchanged NA NA Unchanged NA Unchanged Loss Unchanged Unchanged Unchanged NA Unchanged Unchanged Unchanged -8p_status 8p Copy number status of 8p Unchanged Loss Loss Loss Unchanged Gain Loss Unchanged Loss Unchanged NA Unchanged Unchanged Gain NA Loss Unchanged NA Gain Loss Unchanged Loss NA Unchanged Unchanged Loss Loss Loss Unchanged NA Loss Loss Unchanged NA NA Unchanged Loss Gain Loss Loss Unchanged Unchanged Unchanged Gain Loss Gain Loss Unchanged NA NA Loss Loss Gain Loss Unchanged Unchanged Gain NA Loss Loss NA -8q_status 8q Copy number status of 8q Unchanged Gain Unchanged Unchanged Unchanged Gain NA Unchanged NA Unchanged Gain Unchanged NA Gain Gain Gain NA Unchanged Gain Gain Unchanged NA NA Gain Unchanged Gain NA Gain NA NA Gain NA Unchanged NA Gain Unchanged Gain Gain Unchanged Gain Unchanged Unchanged Unchanged Gain Gain Gain NA Gain NA Gain Gain Unchanged Gain Gain Unchanged Unchanged Gain NA Gain Unchanged Unchanged -9p_status 9p Copy number status of 9p Unchanged Loss Unchanged Unchanged Loss Loss Unchanged Unchanged Gain Unchanged Unchanged Unchanged Loss Unchanged Unchanged Unchanged Unchanged Unchanged Loss Unchanged Unchanged Unchanged NA Unchanged Unchanged Unchanged NA Gain Unchanged NA NA Unchanged Gain Unchanged Unchanged Unchanged NA NA Unchanged Unchanged Unchanged Unchanged Unchanged Loss NA Gain Unchanged Unchanged NA NA Unchanged Loss Unchanged Unchanged Unchanged Unchanged Loss NA Loss Loss Unchanged -9q_status 9q Copy number status of 9q Unchanged Loss Unchanged NA Loss NA Gain Unchanged Gain Unchanged Unchanged Unchanged Unchanged Unchanged NA Unchanged Unchanged Unchanged Loss Unchanged Loss Unchanged NA Unchanged Unchanged Unchanged NA Unchanged Loss NA NA Unchanged NA Unchanged NA Unchanged Loss Loss Unchanged Unchanged Unchanged Unchanged Unchanged Loss Unchanged Gain Unchanged Unchanged NA NA NA NA Unchanged Unchanged Unchanged Unchanged Loss NA Unchanged Unchanged Unchanged -10p_status 10p Copy number status of 10p Unchanged Unchanged Gain Unchanged Loss Loss Unchanged Unchanged Unchanged Unchanged Gain Unchanged Unchanged Gain Gain Unchanged Unchanged Unchanged Gain Loss Unchanged NA NA Loss Unchanged Unchanged Gain Gain Unchanged NA NA Unchanged Unchanged Unchanged Unchanged Unchanged Gain Gain Unchanged Unchanged Unchanged Unchanged Loss Loss Loss Unchanged Loss Unchanged NA Unchanged Unchanged NA Unchanged Loss Unchanged Unchanged Unchanged NA Gain Unchanged Unchanged -10q_status 10q Copy number status of 10q Unchanged Unchanged NA Unchanged Loss Loss NA Unchanged Unchanged Unchanged NA Unchanged NA Unchanged Gain Unchanged Unchanged Unchanged Loss Loss Unchanged Unchanged NA Loss Unchanged Unchanged NA Gain Unchanged Loss Gain Unchanged NA Unchanged Unchanged Unchanged Unchanged Gain Unchanged Unchanged Unchanged Unchanged Loss Loss Loss Unchanged NA Unchanged NA Loss Unchanged NA Unchanged Loss Unchanged Unchanged Unchanged NA NA Unchanged Unchanged -11p_status 11p Copy number status of 11p Loss Gain Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Gain Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged NA Unchanged NA Unchanged Unchanged Unchanged NA Loss Unchanged Loss NA Unchanged Gain Unchanged Unchanged Unchanged NA Unchanged Loss Unchanged Unchanged Unchanged Unchanged Gain Unchanged Unchanged Unchanged Loss NA NA NA NA Unchanged NA Unchanged Unchanged Gain NA Loss Gain Unchanged -11q_status 11q Copy number status of 11q Loss Gain Unchanged NA Loss NA NA Unchanged NA Unchanged Loss Unchanged Loss Loss Unchanged Unchanged NA Unchanged Loss Unchanged NA NA NA NA NA Unchanged NA Loss NA NA NA Loss Unchanged NA Unchanged Loss NA Loss Loss Unchanged Unchanged Unchanged Unchanged Loss NA Unchanged NA Loss NA Unchanged Unchanged NA Unchanged Loss Unchanged Unchanged Gain NA NA Loss Unchanged -12p_status 12p Copy number status of 12p Gain Gain NA Unchanged Unchanged Unchanged Unchanged Unchanged NA NA Unchanged Unchanged Unchanged Unchanged Gain Unchanged Unchanged Loss NA NA Unchanged Gain NA Gain Unchanged Unchanged NA Unchanged Unchanged Gain NA Unchanged Unchanged Unchanged Unchanged Unchanged Gain Loss Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Gain Unchanged NA Gain NA Unchanged Unchanged Loss Unchanged Loss Unchanged Unchanged Unchanged NA Loss Unchanged Unchanged -12q_status 12q Copy number status of 12q Gain Gain Gain Unchanged Loss Unchanged NA Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged NA NA Unchanged Unchanged Unchanged Loss NA Unchanged Gain NA Unchanged Unchanged Unchanged NA Unchanged Unchanged NA Gain Unchanged Unchanged Unchanged Unchanged Unchanged NA NA NA Unchanged Unchanged Unchanged Unchanged Unchanged NA Unchanged Unchanged Gain NA Unchanged Loss Loss Unchanged Unchanged Unchanged Unchanged Unchanged NA Loss Unchanged Unchanged -13q_status 13q Copy number status of 13q Gain Loss Loss Unchanged Loss Loss NA Unchanged Unchanged Unchanged Unchanged Unchanged Loss Loss Unchanged Unchanged Unchanged Loss Unchanged Gain Unchanged Loss NA Loss Loss Unchanged Loss Loss NA NA Loss Unchanged Unchanged Loss Unchanged Unchanged NA Loss Loss Unchanged Unchanged Unchanged Loss Loss Loss Loss Loss Loss NA NA Loss NA Unchanged Loss Unchanged Unchanged Unchanged NA NA Unchanged Unchanged -14q_status 14q Copy number status of 14q Unchanged Loss Unchanged Unchanged Loss NA Loss Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Loss Unchanged NA NA Loss Unchanged Unchanged NA Unchanged Unchanged Loss Loss Unchanged NA Unchanged Unchanged Unchanged Loss Loss Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Loss Unchanged Loss Unchanged NA NA Unchanged NA Unchanged NA Unchanged Unchanged Unchanged NA Loss Unchanged Unchanged -15q_status 15q Copy number status of 15q Unchanged Unchanged NA Unchanged Unchanged NA Loss Unchanged Unchanged Unchanged Unchanged Unchanged NA Unchanged NA Unchanged Unchanged Loss Unchanged NA Unchanged Unchanged NA Loss Unchanged Unchanged NA Unchanged Unchanged NA Loss Unchanged Loss Unchanged Unchanged Unchanged Loss Loss Unchanged Unchanged Unchanged Unchanged Loss Loss Unchanged Gain Loss Loss NA NA Unchanged NA Unchanged NA Unchanged Loss Loss NA Loss Unchanged Unchanged -16p_status 16p Copy number status of 16p Gain Gain Gain Unchanged Unchanged NA Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Gain Gain Gain NA Gain Gain Loss Unchanged NA NA Unchanged Unchanged Gain NA Unchanged NA NA Loss Gain Unchanged Unchanged Unchanged Unchanged Unchanged NA Gain Gain Gain Loss Gain Gain Unchanged Gain Unchanged Gain NA Loss Unchanged Loss Gain NA Gain Unchanged Gain NA NA Unchanged Unchanged -16q_status 16q Copy number status of 16q Gain Loss NA NA Unchanged Unchanged Unchanged Loss Loss Loss Unchanged Unchanged Loss Loss Loss Loss NA Loss Gain Loss Loss Loss NA NA Unchanged NA NA Unchanged NA Gain Loss Loss Unchanged Unchanged Unchanged Loss Gain NA Loss Loss Loss Loss Loss Loss Loss Loss Unchanged NA NA NA NA NA Loss Loss Loss Loss Loss NA Loss Unchanged Unchanged -17p_status 17p Copy number status of 17p Gain Gain Loss Unchanged Loss Loss Loss Loss NA Loss Gain Unchanged Loss Loss Loss Unchanged Loss Loss Loss Loss Unchanged NA NA Loss Loss Unchanged Loss Unchanged Loss NA NA Loss Loss Unchanged Loss Loss Unchanged Loss Loss Unchanged Unchanged Loss Unchanged Loss Loss Loss Loss Loss NA Loss Loss Loss Unchanged Loss Unchanged NA Loss NA Loss Unchanged Unchanged -17q_status 17q Copy number status of 17q Gain Gain Gain Unchanged Unchanged Gain NA Gain Gain Unchanged Gain Unchanged Unchanged Unchanged Unchanged Unchanged Gain NA Gain Loss NA NA NA NA Unchanged Unchanged NA Unchanged NA Loss Unchanged Unchanged Loss NA NA Unchanged NA NA Unchanged Unchanged Unchanged Loss Unchanged Gain Gain Loss NA Gain NA Loss Loss NA Unchanged NA Unchanged Unchanged Unchanged NA NA Unchanged Unchanged -18p_status 18p Copy number status of 18p Unchanged Loss Loss Unchanged Unchanged Loss Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Loss Unchanged Unchanged Unchanged Unchanged Loss Loss Unchanged Unchanged Unchanged NA Unchanged Unchanged Unchanged Loss Unchanged Unchanged Gain NA Unchanged Loss Loss Unchanged Unchanged Loss Gain Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Loss Unchanged Unchanged Unchanged NA NA NA NA Unchanged Loss Gain Loss Unchanged NA Unchanged Unchanged Unchanged -18q_status 18q Copy number status of 18q Unchanged Loss Loss Unchanged Unchanged Loss Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Loss Unchanged Unchanged Unchanged Unchanged Loss Unchanged Unchanged Unchanged Unchanged NA Unchanged Unchanged Unchanged Loss Unchanged NA NA NA Unchanged Unchanged Loss Unchanged Unchanged NA Loss Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Loss Unchanged Loss Unchanged NA Loss Unchanged Gain Unchanged Unchanged Gain Loss Unchanged NA NA Unchanged Unchanged -19p_status 19p Copy number status of 19p Gain Gain Unchanged Unchanged Unchanged Unchanged Loss Unchanged NA Unchanged Unchanged Unchanged NA Unchanged Gain Unchanged Unchanged Unchanged Loss NA Unchanged Unchanged NA Unchanged Unchanged Unchanged NA Unchanged Unchanged Loss NA Unchanged Unchanged Unchanged Unchanged Unchanged Gain Loss Unchanged Unchanged Unchanged Unchanged Unchanged Gain Unchanged Unchanged NA Unchanged NA NA Gain NA Unchanged Loss Unchanged Unchanged Loss NA Unchanged Unchanged Unchanged -19q_status 19q Copy number status of 19q Gain Gain Unchanged Unchanged Unchanged NA Unchanged Unchanged Gain Unchanged Unchanged Unchanged Unchanged Unchanged Gain Unchanged Unchanged Unchanged Gain Unchanged Unchanged Unchanged NA Unchanged NA Unchanged Gain Unchanged Unchanged NA NA Unchanged Unchanged Unchanged Unchanged Unchanged Gain Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged NA Unchanged Unchanged NA Unchanged NA NA NA Unchanged Unchanged Unchanged Unchanged Unchanged Loss NA Unchanged Unchanged Unchanged -20p_status 20p Copy number status of 20p Gain Gain NA Unchanged Gain Gain Unchanged Unchanged Unchanged Unchanged NA Unchanged Gain Unchanged Gain Unchanged Unchanged Gain Gain NA Unchanged Gain NA Unchanged Unchanged Unchanged Gain Unchanged Unchanged Loss NA Unchanged Unchanged Gain Unchanged Unchanged Gain Gain Unchanged Unchanged Unchanged Unchanged Gain Gain Gain Gain NA Gain NA NA Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged NA Unchanged Unchanged Unchanged -20q_status 20q Copy number status of 20q Gain Gain Gain Unchanged Gain Gain Gain Unchanged Unchanged Unchanged Gain Unchanged Gain Unchanged Gain Unchanged Unchanged Gain Gain NA Unchanged Gain NA Unchanged NA Unchanged NA NA NA NA NA Unchanged Gain Gain Unchanged Unchanged Gain Gain Unchanged Unchanged Unchanged Unchanged Gain Gain Gain Gain Gain Gain NA Gain Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged NA Unchanged Unchanged Unchanged -21q_status 21q Copy number status of 21q Unchanged Loss Unchanged Unchanged Gain Loss Loss Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Gain Gain Unchanged Unchanged Loss NA Unchanged Unchanged Unchanged NA Unchanged Unchanged NA NA Unchanged Unchanged Unchanged Unchanged Unchanged Gain NA Unchanged Unchanged Unchanged Unchanged Unchanged Unchanged Gain Unchanged NA Unchanged NA Loss Unchanged NA Unchanged Unchanged Unchanged Unchanged Unchanged NA NA Unchanged Unchanged -22q_status 22q Copy number status of 22q Loss Loss Unchanged Loss Loss NA Loss Unchanged Unchanged Unchanged Gain Unchanged Loss Unchanged Unchanged Unchanged Unchanged Unchanged NA NA Unchanged Loss NA Unchanged Unchanged Unchanged Unchanged Unchanged NA NA Gain Loss Gain Unchanged Loss Unchanged Gain Loss Unchanged Loss Unchanged Loss Loss Unchanged Loss Loss Loss Gain NA Loss Unchanged Unchanged Unchanged Loss Unchanged Loss Loss NA Unchanged Unchanged Unchanged \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_clinical_patient.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_clinical_patient.txt deleted file mode 100644 index 59d4ce03f19..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_clinical_patient.txt +++ /dev/null @@ -1,28 +0,0 @@ -#Patient Identifier Sex Diagnosis Age Overall Survival (Months) Overall Survival Status -#Identifier to uniquely specify a patient. Sex Age at which a condition or disease was first diagnosed. Overall survival in months since initial diagonosis. Overall patient survival status. -#STRING STRING NUMBER NUMBER STRING -#1 1 1 1 9 -PATIENT_ID SEX AGE OS_MONTHS OS_STATUS -P01 Male 28 58 1:DECEASED -P02 Female 26 5 -P04 Male 22 61 1:DECEASED -P05 Female 39 74 1:DECEASED -P06 Male 22 87 1:DECEASED -P07 Male 30 148 1:DECEASED -P08 Male 44 103 1:DECEASED -P09 Male 28 45 1:DECEASED -P10 Female 41 44 1:DECEASED -P11 Female 30 186 1:DECEASED -P12 Male 35 82 0:LIVING -P13 Male 24 106 1:DECEASED -P15 Female 38 143 0:LIVING -P16 Female 35 38 1:DECEASED -P17 Male 27 59 0:LIVING -P18 Male 49 106 0:LIVING -P21 Male 27 35 1:DECEASED -P24 Male 34 109 1:DECEASED -P25 Male 39 42 0:LIVING -P26 Female 36 47 0:LIVING -P27 Male 56 54 0:LIVING -P28 Male 30 137 0:LIVING -P29 Male 52 109 1:DECEASED diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_clinical_sample.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_clinical_sample.txt deleted file mode 100644 index 9c182a39c04..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_clinical_sample.txt +++ /dev/null @@ -1,66 +0,0 @@ -#Patient Identifier Sample Identifier Sample Type Oncotree Code Neoplasm Histologic Grade MGMT Status IDH1 Mutation 1p/19q Status Non-silent mutations in TP53, ATRX, CIC, FUBP1 Note Cancer Type Cancer Type Detailed Somatic Status -#Identifier to uniquely specify a patient. A unique sample identifier. The type of sample (i.e., normal, primary, met, recurrence). Oncotree Code Numeric value to express the degree of abnormality of cancer cells, a measure of differentiation and aggressiveness. MGMT Status IDH1 mutation is present 1p/19q Status Non-silent mutations in TP53, ATRX, CIC, FUBP1 Note. Cancer Type Cancer Type Detailed Somatic Status -#STRING STRING STRING STRING STRING STRING STRING STRING STRING STRING STRING STRING STRING -#1 1 9 1 1 1 1 1 1 1 1 1 1 -PATIENT_ID SAMPLE_ID SAMPLE_TYPE ONCOTREE_CODE GRADE MGMT_STATUS IDH1_MUTATION STATUS_1P_19Q NON_SILENT_MUT_TP53_ATRX_CIC_FUBP1 NOTE CANCER_TYPE CANCER_TYPE_DETAILED SOMATIC_STATUS -P01 P01_Pri Primary ASTR II Unmethylated R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P01 P01_Rec Recurrent GB IV Methylated R132H 19q deletion TP53, ATRX NA Glioma Glioblastoma Matched -P02 P02_Pri Primary OAST II Methylated R132H 19q deletion TP53 Patient lost follow up Glioma Oligoastrocytoma Matched -P02 P02_Rec Recurrent AASTR III Unmethylated R132H 19q deletion TP53 Patient lost follow up Glioma Anaplastic Astrocytoma Matched -P04 P04_Pri Primary ASTR II Unknown R132C Intact TP53 NA Glioma Astrocytoma Matched -P04 P04_Rec1 Recurrent AASTR III Unknown R132C Intact TP53 NA Glioma Anaplastic Astrocytoma Matched -P04 P04_Rec2 Recurrent AASTR III Unknown R132C Intact TP53 NA Glioma Anaplastic Astrocytoma Matched -P04 P04_Rec3 Recurrent AASTR III Unknown R132C Intact TP53 NA Glioma Anaplastic Astrocytoma Matched -P05 P05_Pri Primary ASTR II Methylated R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P05 P05_Rec Recurrent GB IV Methylated R132H Intact TP53, ATRX NA Glioma Glioblastoma Matched -P06 P06_Pri Primary ASTR II Unmethylated R132H Intact NA NA Glioma Astrocytoma Matched -P06 P06_Rec Recurrent ASTR II Methylated R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P07 P07_Pri Primary ASTR II Unknown R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P07 P07_Rec Recurrent ASTR II Unknown R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P08 P08_Pri Primary OAST II Unknown R132H Intact TP53, ATRX NA Glioma Oligoastrocytoma Matched -P08 P08_Rec Recurrent GB IV Unknown R132H 19q deletion TP53, ATRX NA Glioma Glioblastoma Matched -P09 P09_Pri Primary ASTR II Methylated R132H Intact TP53 NA Glioma Astrocytoma Matched -P09 P09_Rec Recurrent GB IV Methylated R132H Intact TP53 NA Glioma Glioblastoma Matched -P10 P10_Pri Primary ASTR II Methylated R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P10 P10_Rec Recurrent GB IV Methylated R132H Intact TP53, ATRX NA Glioma Glioblastoma Matched -P11 P11_Pri Primary OAST II Methylated R132H Intact TP53, ATRX NA Glioma Oligoastrocytoma Matched -P11 P11_Rec Recurrent OAST II Methylated R132H Intact TP53, ATRX NA Glioma Oligoastrocytoma Matched -P12 P12_Pri Primary ASTR II Unknown R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P12 P12_Rec Recurrent AASTR III Unknown R132H Intact TP53, ATRX NA Glioma Anaplastic Astrocytoma Matched -P13 P13_Pri Primary OAST II Unmethylated R132G Intact TP53, ATRX NA Glioma Oligoastrocytoma Matched -P13 P13_Rec Recurrent OAST II Unmethylated R132G Intact TP53, ATRX NA Glioma Oligoastrocytoma Matched -P15 P15_Pri Primary OAST II Unknown R132H Co-deletion NA NA Glioma Oligoastrocytoma Matched -P15 P15_Rec Recurrent OAST II Unknown R132H Co-deletion CIC NA Glioma Oligoastrocytoma Matched -P16 P16_Pri Primary ASTR II Methylated R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P16 P16_Rec Recurrent ASTR II Methylated R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P17 P17_Pri_A Primary ODG II Methylated R132H Intact TP53, ATRX NA Glioma Oligodendroglioma Matched -P17 P17_Pri_B Primary ODG II Methylated R132H Intact TP53, ATRX NA Glioma Oligodendroglioma Matched -P17 P17_Pri_C Primary ODG II Methylated R132H Intact TP53, ATRX NA Glioma Oligodendroglioma Matched -P17 P17_Rec1_A Recurrent GB IV Unmethylated R132H Intact TP53, ATRX NA Glioma Glioblastoma Matched -P17 P17_Rec1_B Recurrent GB IV Unmethylated R132H Intact TP53, ATRX NA Glioma Glioblastoma Matched -P17 P17_Rec1_C Recurrent GB IV Unmethylated R132H Intact TP53, ATRX NA Glioma Glioblastoma Matched -P17 P17_Rec1_D Recurrent GB IV Unmethylated R132H Intact TP53, ATRX NA Glioma Glioblastoma Matched -P18 P18_Pri_A Primary OAST II Methylated R132H Intact TP53, ATRX NA Glioma Oligoastrocytoma Matched -P18 P18_Pri_B Primary OAST II Methylated R132H Intact TP53, ATRX NA Glioma Oligoastrocytoma Matched -P18 P18_Pri_C Primary OAST II Methylated R132H Intact TP53, ATRX NA Glioma Oligoastrocytoma Matched -P18 P18_Pri_D Primary OAST II Methylated R132H Intact TP53, ATRX NA Glioma Oligoastrocytoma Matched -P18 P18_Rec Recurrent GB IV Methylated R132H Intact TP53, ATRX NA Glioma Glioblastoma Matched -P21 P21_Pri Primary OAST II Methylated R132H 19q deletion TP53, ATRX NA Glioma Oligoastrocytoma Matched -P21 P21_Rec Recurrent GB IV Methylated R132H Intact TP53, ATRX NA Glioma Glioblastoma Matched -P24 P24_Pri Primary ASTR II Unmethylated R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P24 P24_Rec1 Recurrent ASTR II Unmethylated R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P24 P24_Rec2 Recurrent GB IV Methylated R132H Intact TP53, ATRX NA Glioma Glioblastoma Matched -P25 P25_Pri Primary ASTR II Methylated R132H Intact ATRX NA Glioma Astrocytoma Matched -P25 P25_Rec Recurrent GB IV Methylated R132H Intact ATRX NA Glioma Glioblastoma Matched -P26 P26_Pri_A Primary ASTR II Methylated R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P26 P26_Pri_B Primary ASTR II Methylated R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P26 P26_Rec1_A Recurrent AASTR III Methylated R132H Intact TP53, ATRX NA Glioma Anaplastic Astrocytoma Matched -P26 P26_Rec1_B Recurrent AASTR III Methylated R132H Intact TP53, ATRX NA Glioma Anaplastic Astrocytoma Matched -P27 P27_Pri_A Primary ASTR II Methylated R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P27 P27_Pri_B Primary ASTR II Methylated R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P27 P27_Rec1_A Recurrent AASTR III Methylated R132H Intact TP53, ATRX NA Glioma Anaplastic Astrocytoma Matched -P27 P27_Rec1_B Recurrent AASTR III Methylated R132H Intact TP53, ATRX NA Glioma Anaplastic Astrocytoma Matched -P28 P28_Pri Primary ASTR II Methylated R132H 19q deletion TP53, ATRX NA Glioma Astrocytoma Matched -P28 P28_Rec Recurrent AASTR III Methylated R132H 19q deletion TP53, ATRX NA Glioma Anaplastic Astrocytoma Matched -P29 P29_Pri Primary ASTR II Methylated R132H Intact TP53, ATRX NA Glioma Astrocytoma Matched -P29 P29_Rec Recurrent AASTR III Methylated R132H Intact TP53, ATRX NA Glioma Anaplastic Astrocytoma Matched \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_binary_DBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_binary_DBS.txt deleted file mode 100644 index 815479d6630..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_binary_DBS.txt +++ /dev/null @@ -1,12 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION URL P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A P17_Pri_B P17_Pri_C P17_Rec1_A P17_Rec1_B P17_Rec1_C P17_Rec1_D P18_Pri_A P18_Pri_B P18_Pri_C P18_Pri_D P18_Rec P21_Pri P21_Rec P24_Pri P24_Rec1 P24_Rec2 P25_Pri P25_Rec P26_Pri_A P26_Pri_B P26_Rec1_A P26_Rec1_B P27_Pri_A P27_Pri_B P27_Rec1_A P27_Rec1_B P28_Pri P28_Rec P29_Pri P29_Rec -mutational_signature_binary_DBS1 DBS1 (UV) Exposure to ultraviolet light https://cancer.sanger.ac.uk/signatures/dbs/dbs1 true true true true true true true true true true true true true true true true true true true false true true true true true true true true true true true true true true true true true false true true false true true true true true false true true true true true true true true true true true true true true -mutational_signature_binary_DBS2 DBS2 (Smoking) Exposure to tobacco smoking as well as other endogenous and/or exogenous mutagens (e.g. https://cancer.sanger.ac.uk/signatures/dbs/dbs2 false false false false false false false false false false false false true false false true false false false false false false false false false false false false false false false false false false false false false true false true true false false true false false false false false false false false false true false false false false false false false -mutational_signature_binary_DBS3 DBS3 (POLE) Polymerase epsilon exonuclease domain mutations https://cancer.sanger.ac.uk/signatures/dbs/dbs3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_DBS4 DBS4 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/signatures/dbs/dbs4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_DBS5 DBS5 (Platinum) Prior chemotherapy treatment with platinum drugs https://cancer.sanger.ac.uk/signatures/dbs/dbs5 false false false false false false false false false false false true false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_DBS6 DBS6 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/signatures/dbs/dbs6 false true false false false false true false false true false false false false false false false false false true false true false false true false false false false false false false false false false false false true false true false true false false false false true false false true true true true false false false false false false false false -mutational_signature_binary_DBS7 DBS7 (MMR) Defective DNA mismatch repair (MMR) https://cancer.sanger.ac.uk/signatures/dbs/dbs7 false true false false false false false false false true false false false false false false false true false true false false false false false false false false false false false false false false false false false false false false false true false false false false true true true false false false false false false false false false false false false -mutational_signature_binary_DBS8 DBS8 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/dbs/dbs8 false false false false false false false false false true false false false false false false false false false false false false true false false false false false false false false false false false true false true false false false false true false true false false true false false false false false false false true false true false false false false -mutational_signature_binary_DBS9 DBS9 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/signatures/dbs/dbs9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_DBS10 DBS10 (MMR) Defective DNA mismatch repair (MMR) https://cancer.sanger.ac.uk/signatures/dbs/dbs10 false false false false false false false false false false false false false false false false false false true false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false true false false false false false false -mutational_signature_binary_DBS11 DBS11 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/dbs/dbs11 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_binary_SBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_binary_SBS.txt deleted file mode 100644 index ec02412a46f..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_binary_SBS.txt +++ /dev/null @@ -1,31 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION URL P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A P17_Pri_B P17_Pri_C P17_Rec1_A P17_Rec1_B P17_Rec1_C P17_Rec1_D P18_Pri_A P18_Pri_B P18_Pri_C P18_Pri_D P18_Rec P21_Pri P21_Rec P24_Pri P24_Rec1 P24_Rec2 P25_Pri P25_Rec P26_Pri_A P26_Pri_B P26_Rec1_A P26_Rec1_B P27_Pri_A P27_Pri_B P27_Rec1_A P27_Rec1_B P28_Pri P28_Rec P29_Pri P29_Rec -mutational_signature_binary_SBS1 SBS1 (Age) Number of mutations corellated with age https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS1.tt true true true true true true true true true true true true true true true true true true true false true true true true true true true true true true true true true true true true true false true true false true true true true true false true true true true true true true true true true true true true true -mutational_signature_binary_SBS2 SBS2 (APOBEC) Attributed to activity of AID/APOBEC family of cytidine deaminases https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS2.tt false false false false false false false false false false false false true false false true false false false false false false false false false false false false false false false false false false false false false true false true true false false true false false false false false false false false false true false false false false false false false -mutational_signature_binary_SBS3 SBS3 (HRD) Attributed to homologous recombination defects (HRD) in DNA damage response, most often found with germline and somatic BRCA mutations in breast, pancreatic, ovarian cancers, and in pancreatic tumors responsive to platinum therapy https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS3.tt false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS4 SBS4 (Smoking) Associated with tobacco smoking likely due to direct DNA damage by tobacco smoke mutagens https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS4.tt false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS5 SBS5 (Unknown) Unknown etiology but is clock-like with the number of mutations in most cancers and normal cells correlated with the age https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS5.tt false false false false false false false false false false false true false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS6 SBS6 (MMR/MSI) Associated with defective DNA mismatch repair (MMR) and is found in microsatellite unstable (MSI) tumors; one of 7 signatures associated with MMR/MSI along with SBS14, SBS15, SBS20, SBS21, SBS26, and SBS44 https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS6.tt false true false false false false true false false true false false false false false false false false false true false true false false true false false false false false false false false false false false false true false true false true false false false false true false false true true true true false false false false false false false false -mutational_signature_binary_SBS7a SBS7a (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7b, SBS7c, and SBS7d) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7a.tt false true false false false false false false false true false false false false false false false true false true false false false false false false false false false false false false false false false false false false false false false true false false false false true true true false false false false false false false false false false false false -mutational_signature_binary_SBS7b SBS7b (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7a, SBS7c, and SBS7d) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7b.tt false false false false false false false false false true false false false false false false false false false false false false true false false false false false false false false false false false true false true false false false false true false true false false true false false false false false false false true false true false false false false -mutational_signature_binary_SBS7c SBS7c (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7a, SBS7b, and SBS7d) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7c.tt false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS7d SBS7d (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7a, SBS7b, and SBS7c) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7d.tt false false false false false false false false false false false false false false false false false false true false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false true false false false false false false -mutational_signature_binary_SBS8 SBS8 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS8.tt false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS9 SBS9 (POL-eta) May be due in part to mutations induced during replication by polymerase eta as part of somatic hypermutation in lymphoid cells https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS9.tt false false false false false false false false false false false false false false false false false false false true false false false false false false false false false false false false true false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS10a SBS10a (POLE) Attributed to polymerase epsilon exonuclease domain mutations https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS10a.tt false false true true false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false true false false false false false false false false false false false false -mutational_signature_binary_SBS10b SBS10b (POLE) Attributed to polymerase epsilon exonuclease domain mutations https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS10b.tt false false false false false false true false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS11 SBS11 (TMZ) Exhibits a mutational pattern resembling that of alkylating agents and associated with patient histories of temozolomide (TMZ) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS11.tt false true false false false false false false false true false false false false false false false false false true false false false false false false false false false false false false false false false false false false false false false true false true false false true false false false false false false false false false false false false false false -mutational_signature_binary_SBS12 SBS12 (Unknown) Etiology unknown https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS12.tt false false false false false false false false false false false false false false false false false false false true false false false false false false false false false false false false false false true false true false false false false false false false false false false true false false false false false false false false false false false false false -mutational_signature_binary_SBS13 SBS13 (APOBEC) Attributed to activity of the AID/APOBEC family of cytidine deaminases https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS13.tt false false false false false false false false false true false false false true false false false true false false false false false false true false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS14 SBS14 (MMR/MSI) Associated with concurrent polymerase epsilon mutation, defecticve DNA mismatch repair (MMR), and microsatellite instability (MSI); present in very high numbers in all samples where it has been observed; one of 7 signatures associated with MMR/MSI (SBS6, SBS15, SBS20, SBS21, SBS26, and SBS44) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS14.tt false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS15 SBS15 (MMR/MSI) Associated with defecticve DNA mismatch repair (MMR), and microsatellite instability (MSI); one of 7 signatures associated with MMR/MSI (SBS6, SBS14, SBS20, SBS21, SBS26, and SBS44) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS15.tt false false false false false false false false false true false false false false false false false false false true true true false false false false false false false false false false false false false false false false false false false true false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS16 SBS16 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS16.tt false false false false false false false false false false false true false false false false false false false false false false false false false false false false false false true false true false false false false true false true true false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS17a SBS17a (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS17a.tt true false false false false false false false false false false false false false false false false false false false false false false false false false false false true true false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS17b SBS17b (Unknown) Unknown etiology but has been linked to fluorouracil (5FU) chemotherapy treatment and reactive oxygen species damage https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS17b.tt false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS18 SBS18 (ROS) Possibly linked to damage by reactive oxygen species (ROS) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS18.tt false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false true true false false false false false false false false false false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS19 SBS19 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS19.tt false false false false false false false true true true false false false false false true false true false false false false false false false false false false false false false false false false false false false false false false false true true true false false true false false false false false false false false true false false false false false -mutational_signature_binary_SBS20 SBS20 (MMR/MSI) Associated with concurrent POLD1 mutations and defective DNA mismatch repair (MMR)/microsatellite instability (MSI); one of 7 MMR/MSI signatures: SBS6, SBS14, SBS15, SBS21, SBS26, and SBS44 https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS20.tt false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false true false false false true false false -mutational_signature_binary_SBS21 SBS21 (MMR/MSI) DNA mismatch repair (MMR) and microsatellite instability (MSI); one of 7 MMR/MSI signatures: SBS6, SBS14, SBS15, SBS20, SBS26, and SBS44 https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS21.tt false true false false false false false false false false false false false false false false false false false true false false false false false false false false false false false false false false false false false false false false false false false false false false true false false false false false false false false false false false false false false -mutational_signature_binary_SBS22 SBS22 (Arisolochic acid) Associated with aristolochic acid exposure https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS22.tt false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false true false false false false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS23 SBS23 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS23.tt true true false false false false false false false false false false false false false true false false false true false false false false false false true false false false false false false false false false false false true false false true false false false false true false false false false false false false false false false true true false false -mutational_signature_binary_SBS24 SBS24 (Aflatoxin) Associated with aflatoxin exposure https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS24.tt false false false false false false false false false true false false false false false false false false false false false false false false false false false false false false false false false false true false true false false false false false false true true false false false false false false false false false false false false false false false false -mutational_signature_binary_SBS25 SBS25 (Unknown) Unknown etiology but found in some Hodgkin's cell line samples derived from patients exposed to chemotherapy https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS25.tt false true false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_category_DBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_category_DBS.txt deleted file mode 100644 index a06df63feb4..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_category_DBS.txt +++ /dev/null @@ -1,12 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION URL P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A P17_Pri_B P17_Pri_C P17_Rec1_A P17_Rec1_B P17_Rec1_C P17_Rec1_D P18_Pri_A P18_Pri_B P18_Pri_C P18_Pri_D P18_Rec P21_Pri P21_Rec P24_Pri P24_Rec1 P24_Rec2 P25_Pri P25_Rec P26_Pri_A P26_Pri_B P26_Rec1_A P26_Rec1_B P27_Pri_A P27_Pri_B P27_Rec1_A P27_Rec1_B P28_Pri P28_Rec P29_Pri P29_Rec -mutational_signature_category_DBS1 DBS1 (UV) Exposure to ultraviolet light https://cancer.sanger.ac.uk/signatures/dbs/dbs1 highly significant significant highly significant highly significant highly significant highly significant significant highly significant highly significant highly significant significant highly significant significant highly significant highly significant highly significant significant significant highly significant not significant significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant significant highly significant highly significant highly significant highly significant highly significant highly significant not significant highly significant significant marginally significant highly significant highly significant highly significant significant highly significant not significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant -mutational_signature_category_DBS2 DBS2 (Smoking) Exposure to tobacco smoking as well as other endogenous and/or exogenous mutagens (e.g. https://cancer.sanger.ac.uk/signatures/dbs/dbs2 not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant not significant not significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant significant significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant marginally significant marginally significant marginally significant not significant not significant not significant not significant -mutational_signature_category_DBS3 DBS3 (POLE) Polymerase epsilon exonuclease domain mutations https://cancer.sanger.ac.uk/signatures/dbs/dbs3 not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant -mutational_signature_category_DBS4 DBS4 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/signatures/dbs/dbs4 not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_DBS5 DBS5 (Platinum) Prior chemotherapy treatment with platinum drugs https://cancer.sanger.ac.uk/signatures/dbs/dbs5 not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant marginally significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_DBS6 DBS6 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/signatures/dbs/dbs6 not significant highly significant not significant not significant not significant not significant highly significant not significant marginally significant highly significant not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant highly significant not significant not significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant highly significant not significant highly significant not significant not significant not significant not significant highly significant not significant not significant highly significant highly significant significant significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_DBS7 DBS7 (MMR) Defective DNA mismatch repair (MMR) https://cancer.sanger.ac.uk/signatures/dbs/dbs7 not significant highly significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant not significant not significant not significant highly significant significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant -mutational_signature_category_DBS8 DBS8 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/dbs/dbs8 not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant not significant significant not significant not significant not significant not significant highly significant not significant highly significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant marginally significant significant not significant significant not significant not significant not significant not significant -mutational_signature_category_DBS9 DBS9 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/signatures/dbs/dbs9 not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_DBS10 DBS10 (MMR) Defective DNA mismatch repair (MMR) https://cancer.sanger.ac.uk/signatures/dbs/dbs10 not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant marginally significant marginally significant not significant not significant not significant not significant -mutational_signature_category_DBS11 DBS11 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/dbs/dbs11 not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_category_SBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_category_SBS.txt deleted file mode 100644 index 47d66c5270b..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_category_SBS.txt +++ /dev/null @@ -1,31 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION URL P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A P17_Pri_B P17_Pri_C P17_Rec1_A P17_Rec1_B P17_Rec1_C P17_Rec1_D P18_Pri_A P18_Pri_B P18_Pri_C P18_Pri_D P18_Rec P21_Pri P21_Rec P24_Pri P24_Rec1 P24_Rec2 P25_Pri P25_Rec P26_Pri_A P26_Pri_B P26_Rec1_A P26_Rec1_B P27_Pri_A P27_Pri_B P27_Rec1_A P27_Rec1_B P28_Pri P28_Rec P29_Pri P29_Rec -mutational_signature_category_SBS1 SBS1 (Age) Number of mutations corellated with age https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS1.tt highly significant significant highly significant highly significant highly significant highly significant significant highly significant highly significant highly significant significant highly significant significant highly significant highly significant highly significant significant significant highly significant not significant significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant significant highly significant highly significant highly significant highly significant highly significant highly significant not significant highly significant significant marginally significant highly significant highly significant highly significant significant highly significant not significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant highly significant -mutational_signature_category_SBS2 SBS2 (APOBEC) Attributed to activity of AID/APOBEC family of cytidine deaminases https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS2.tt not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant not significant not significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant significant significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant marginally significant marginally significant marginally significant not significant not significant not significant not significant -mutational_signature_category_SBS3 SBS3 (HRD) Attributed to homologous recombination defects (HRD) in DNA damage response, most often found with germline and somatic BRCA mutations in breast, pancreatic, ovarian cancers, and in pancreatic tumors responsive to platinum therapy https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS3.tt not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS4 SBS4 (Smoking) Associated with tobacco smoking likely due to direct DNA damage by tobacco smoke mutagens https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS4.tt not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS5 SBS5 (Unknown) Unknown etiology but is clock-like with the number of mutations in most cancers and normal cells correlated with the age https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS5.tt not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant marginally significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS6 SBS6 (MMR/MSI) Associated with defective DNA mismatch repair (MMR) and is found in microsatellite unstable (MSI) tumors; one of 7 signatures associated with MMR/MSI along with SBS14, SBS15, SBS20, SBS21, SBS26, and SBS44 https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS6.tt not significant highly significant not significant not significant not significant not significant highly significant not significant marginally significant highly significant not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant highly significant not significant not significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant highly significant not significant highly significant not significant not significant not significant not significant highly significant not significant not significant highly significant highly significant significant significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS7a SBS7a (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7b, SBS7c, and SBS7d) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7a.tt not significant highly significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant not significant not significant not significant highly significant significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant -mutational_signature_category_SBS7b SBS7b (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7a, SBS7c, and SBS7d) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7b.tt not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant not significant significant not significant not significant not significant not significant highly significant not significant highly significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant marginally significant significant not significant significant not significant not significant not significant not significant -mutational_signature_category_SBS7c SBS7c (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7a, SBS7b, and SBS7d) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7c.tt not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS7d SBS7d (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7a, SBS7b, and SBS7c) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7d.tt not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant marginally significant marginally significant not significant not significant not significant not significant -mutational_signature_category_SBS8 SBS8 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS8.tt not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS9 SBS9 (POL-eta) May be due in part to mutations induced during replication by polymerase eta as part of somatic hypermutation in lymphoid cells https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS9.tt not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS10a SBS10a (POLE) Attributed to polymerase epsilon exonuclease domain mutations https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS10a.tt not significant not significant significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS10b SBS10b (POLE) Attributed to polymerase epsilon exonuclease domain mutations https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS10b.tt not significant not significant not significant not significant not significant not significant significant marginally significant not significant not significant not significant not significant marginally significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS11 SBS11 (TMZ) Exhibits a mutational pattern resembling that of alkylating agents and associated with patient histories of temozolomide (TMZ) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS11.tt not significant highly significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant highly significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS12 SBS12 (Unknown) Etiology unknown https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS12.tt not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS13 SBS13 (APOBEC) Attributed to activity of the AID/APOBEC family of cytidine deaminases https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS13.tt not significant not significant not significant not significant not significant marginally significant not significant not significant marginally significant significant not significant marginally significant not significant significant not significant not significant not significant significant not significant not significant not significant not significant marginally significant not significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS14 SBS14 (MMR/MSI) Associated with concurrent polymerase epsilon mutation, defecticve DNA mismatch repair (MMR), and microsatellite instability (MSI); present in very high numbers in all samples where it has been observed; one of 7 signatures associated with MMR/MSI (SBS6, SBS15, SBS20, SBS21, SBS26, and SBS44) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS14.tt not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS15 SBS15 (MMR/MSI) Associated with defecticve DNA mismatch repair (MMR), and microsatellite instability (MSI); one of 7 signatures associated with MMR/MSI (SBS6, SBS14, SBS20, SBS21, SBS26, and SBS44) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS15.tt not significant not significant not significant not significant not significant not significant not significant not significant not significant significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant highly significant highly significant highly significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS16 SBS16 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS16.tt not significant not significant not significant not significant marginally significant marginally significant not significant not significant not significant not significant not significant highly significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant significant marginally significant significant marginally significant not significant marginally significant not significant significant marginally significant significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant marginally significant not significant not significant not significant -mutational_signature_category_SBS17a SBS17a (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS17a.tt significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant marginally significant marginally significant marginally significant marginally significant not significant not significant not significant not significant not significant significant significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant marginally significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS17b SBS17b (Unknown) Unknown etiology but has been linked to fluorouracil (5FU) chemotherapy treatment and reactive oxygen species damage https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS17b.tt not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS18 SBS18 (ROS) Possibly linked to damage by reactive oxygen species (ROS) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS18.tt not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS19 SBS19 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS19.tt not significant not significant not significant not significant not significant not significant not significant significant significant highly significant not significant not significant not significant not significant not significant significant not significant highly significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant significant highly significant not significant not significant significant not significant not significant not significant not significant not significant not significant marginally significant not significant significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS20 SBS20 (MMR/MSI) Associated with concurrent POLD1 mutations and defective DNA mismatch repair (MMR)/microsatellite instability (MSI); one of 7 MMR/MSI signatures: SBS6, SBS14, SBS15, SBS21, SBS26, and SBS44 https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS20.tt not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant highly significant not significant not significant not significant significant not significant not significant -mutational_signature_category_SBS21 SBS21 (MMR/MSI) DNA mismatch repair (MMR) and microsatellite instability (MSI); one of 7 MMR/MSI signatures: SBS6, SBS14, SBS15, SBS20, SBS26, and SBS44 https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS21.tt not significant highly significant not significant not significant not significant marginally significant not significant not significant marginally significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant highly significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS22 SBS22 (Arisolochic acid) Associated with aristolochic acid exposure https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS22.tt not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant marginally significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS23 SBS23 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS23.tt significant highly significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant not significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant not significant not significant highly significant not significant not significant not significant not significant highly significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant significant not significant not significant -mutational_signature_category_SBS24 SBS24 (Aflatoxin) Associated with aflatoxin exposure https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS24.tt not significant marginally significant not significant not significant not significant not significant not significant not significant not significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant significant not significant significant not significant not significant not significant not significant not significant not significant significant significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant -mutational_signature_category_SBS25 SBS25 (Unknown) Unknown etiology but found in some Hodgkin's cell line samples derived from patients exposed to chemotherapy https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS25.tt not significant significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant marginally significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant not significant marginally significant not significant diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_contribution_DBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_contribution_DBS.txt deleted file mode 100644 index 2395c602262..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_contribution_DBS.txt +++ /dev/null @@ -1,12 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION URL P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A P17_Pri_B P17_Pri_C P17_Rec1_A P17_Rec1_B P17_Rec1_C P17_Rec1_D P18_Pri_A P18_Pri_B P18_Pri_C P18_Pri_D P18_Rec P21_Pri P21_Rec P24_Pri P24_Rec1 P24_Rec2 P25_Pri P25_Rec P26_Pri_A P26_Pri_B P26_Rec1_A P26_Rec1_B P27_Pri_A P27_Pri_B P27_Rec1_A P27_Rec1_B P28_Pri P28_Rec P29_Pri P29_Rec -mutational_signature_contribution_DBS1 DBS1 (UV) Exposure to ultraviolet light https://cancer.sanger.ac.uk/signatures/dbs/dbs1 0.161391792 7.81e-12 0.350194272 0.530024703 0.603263184 0.348154205 0.072406334 0.087024012 0.21191492 0.014529816 0.508300748 0.194153496 0.06113226 0.084352005 0.287964133 0.251727371 0.205356687 0.083053248 0.536247242 4.91e-09 0.124629503 0.110053033 0.337816964 0.360359427 0.23759299 0.326192829 0.459724989 0.25247954 0.364924079 0.333889724 0.171522165 0.267074288 0.267084307 0.319666873 0.264870747 0.351593287 0.30353565 0.009120068 0.092336212 0.053019568 0.042186435 0.018185435 0.252923559 0.025281129 0.310322962 0.437355516 1.06e-07 0.33445081 0.391659268 0.169648285 0.109860641 0.217435339 0.256903985 0.376137194 0.132182686 0.282106774 0.274784748 0.246398853 0.210495254 0.384682464 0.256226107 -mutational_signature_contribution_DBS2 DBS2 (Smoking) Exposure to tobacco smoking as well as other endogenous and/or exogenous mutagens (e.g. https://cancer.sanger.ac.uk/signatures/dbs/dbs2 2.92e-14 3.36e-10 0.03035481 0.028093203 3.18e-13 1.09e-12 2.19e-12 1.78e-13 2.5e-13 4.55e-10 1.23e-12 9.28e-12 0.038576075 0.003554835 3.64e-11 0.049899139 5.3e-12 2.57e-09 0.028252304 8.55e-09 7.32e-13 4.66e-14 1.22e-13 8.17e-14 1.67e-12 2.09e-12 8.03e-13 1.15e-08 3.94e-15 5.76e-13 2.21e-12 7.35e-12 1.26e-11 7.13e-13 8.55e-12 1.02e-17 1.29e-12 0.056504962 0.007129473 0.048379 0.056605897 4.1e-08 0.026292235 0.053899436 4.47e-12 1.74e-13 8.67e-09 1.12e-15 1.9e-12 5.73e-14 2.32e-12 4.31e-12 0.021356348 0.060817867 0.040002111 0.039955573 0.043086765 4.7e-13 5.37e-12 1.53e-11 1.84e-12 -mutational_signature_contribution_DBS3 DBS3 (POLE) Polymerase epsilon exonuclease domain mutations https://cancer.sanger.ac.uk/signatures/dbs/dbs3 3.61e-09 6.59e-13 2.77e-11 2.01e-13 1.15e-12 1.18e-11 3.81e-12 2.58e-10 4.85e-11 4.18e-13 4.63e-14 1.52e-14 3.94e-10 3.01e-11 2.54e-11 1.83e-10 8.08e-10 1.34e-09 1.43e-12 1.13e-10 1.89e-11 1.36e-13 2.29e-10 3.58e-11 5.43e-11 1.53e-10 4.35e-12 2.4e-10 4.06e-11 5.54e-11 1.16e-12 1.99e-13 2.54e-13 4.17e-12 4.81e-15 1.01e-12 2.83e-13 3.9e-12 1.42e-10 1.58e-10 5.46e-12 3.12e-13 2.5e-11 3.06e-11 1.6e-10 5.25e-13 2.25e-10 0.007282052 3.46e-11 6.53e-11 4.46e-12 2.6e-12 6.96e-11 1.15e-11 3.39e-11 2.09e-10 4.94e-11 5.93e-12 4.71e-11 3.01e-11 7.03e-11 -mutational_signature_contribution_DBS4 DBS4 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/signatures/dbs/dbs4 8.85e-11 2.51e-12 3.71e-12 5.47e-12 3.34e-12 2.82e-15 2.4e-12 9.38e-15 7.51e-12 1.01e-11 5.24e-11 1.22e-11 1.55e-10 2.93e-13 1.34e-14 3.24e-11 4.78e-12 2.87e-12 2.46e-12 1.04e-10 1.72e-11 0.042310566 1.37e-13 2.76e-13 2.27e-13 3.54e-12 5.31e-12 5.8e-12 1.05e-12 1.27e-12 1.14e-11 4.05e-12 1.18e-13 5.83e-12 2.39e-11 8.2e-12 7.03e-14 1.99e-12 8.85e-11 2.07e-13 6.27e-12 7.75e-10 3.63e-15 7.13e-11 3.03e-11 1.5e-11 1.39e-11 8.59e-13 2.82e-10 6.46e-13 1.16e-13 6e-15 3.56e-13 2.11e-12 2.26e-12 9.02e-13 6.29e-12 8.32e-13 6.69e-12 1.12e-14 3.33e-12 -mutational_signature_contribution_DBS5 DBS5 (Platinum) Prior chemotherapy treatment with platinum drugs https://cancer.sanger.ac.uk/signatures/dbs/dbs5 3.86e-12 5.69e-11 1.94e-11 5.49e-10 5.33e-10 3.07e-11 8.25e-11 1.24e-10 2.29e-11 3.77e-11 4.34e-11 9.68e-11 7e-12 1.39e-11 7.29e-12 3.18e-10 1.86e-14 4.64e-12 3.29e-12 2.94e-10 2.44e-10 3.96e-10 1.67e-13 7.12e-11 1.43e-10 2.32e-10 7.7e-13 3.69e-10 1.7e-12 1.56e-10 1.4e-11 7.78e-13 8.15e-12 1.23e-10 1.27e-12 1.77e-11 3.88e-11 2.94e-11 2.13e-10 4.18e-10 2.97e-10 6.31e-14 8.51e-13 3.13e-11 4.25e-11 1.2e-11 8.31e-11 6.77e-12 7.45e-12 9.11e-13 6.25e-11 1.48e-11 8.78e-11 2.13e-10 8.35e-11 8.23e-13 2.45e-11 8.82e-11 1.27e-14 4.45e-11 6.71e-11 -mutational_signature_contribution_DBS6 DBS6 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/signatures/dbs/dbs6 5.24e-11 0.029046246 1.02e-11 3.09e-12 1.36e-10 9.13e-12 0.248008204 0.004214467 0.044913489 0.056653196 1.01e-11 6.8e-12 6.86e-12 3.12e-10 5.24e-12 5.27e-10 2.27e-12 2.64e-10 6e-12 0.058252764 2.02e-09 0.144958509 1.66e-11 6.86e-10 0.148772257 2.59e-13 0.039658448 2.23e-10 1.5e-11 1.42e-11 1.74e-12 1.06e-12 2.98e-10 2.52e-10 1.89e-12 8.52e-12 1.04e-11 0.089340699 6.08e-12 0.120508458 0.022196151 0.024383193 8.74e-12 2.62e-09 2.38e-12 2.52e-11 0.052402531 2.58e-10 5.44e-08 0.231212881 0.254919992 0.147392112 0.106705677 3.79e-11 2.31e-11 3.54e-11 5.24e-11 0.063212471 4.65e-10 2.44e-11 4.27e-10 -mutational_signature_contribution_DBS7 DBS7 (MMR) Defective DNA mismatch repair (MMR) https://cancer.sanger.ac.uk/signatures/dbs/dbs7 0.028501391 0.073244455 2.36e-12 6.03e-13 5.92e-12 9.4e-13 8.89e-13 1.35e-11 2.87e-15 0.055267791 3.84e-12 0.040586488 8.38e-11 0.013085699 6.43e-12 1.42e-12 2.49e-13 0.093402862 5.07e-12 0.048403939 1.96e-11 8.08e-11 2.48e-10 1.67e-14 3.67e-12 5.81e-11 7.08e-14 0.062913226 1.83e-12 2.35e-16 3.75e-14 1.07e-11 6.63e-12 0.040004583 8.63e-10 0.045812912 1.4e-08 0.014660394 2.35e-12 5.16e-12 4.35e-14 0.052887904 1.41e-11 1.54e-08 6.16e-13 4.66e-12 0.031592875 0.134187645 0.053704398 6.5e-13 1.61e-16 2.36e-12 2.63e-11 5.55e-12 2.33e-12 4.4e-13 5.63e-13 1.37e-12 7.83e-12 0.057895497 0.041908314 -mutational_signature_contribution_DBS8 DBS8 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/dbs/dbs8 2.82e-12 1.79e-06 1.53e-12 4.19e-11 1.76e-09 1.73e-11 4.48e-10 1.24e-12 4.48e-11 0.064252187 7.71e-12 9.45e-11 6.98e-12 0.005283611 2.8e-11 6.22e-12 2.78e-13 6.86e-12 1.37e-12 1.24e-05 0.052331175 0.011470028 0.157920518 1.15e-10 5.64e-14 8.73e-13 2.44e-10 0.060675684 1.41e-11 2.95e-11 1.9e-12 2.6e-12 1.17e-12 0.000300917 0.072207682 3.52e-08 0.080994608 7.45e-15 1.43e-11 3.74e-14 1.55e-12 0.033264351 3.1e-13 0.194084096 2.09e-13 2.47e-12 0.010334724 8.26e-09 6.99e-09 9.33e-14 4.83e-14 7.46e-13 3.3e-11 0.058273316 0.096473508 5.27e-08 0.110586846 2.74e-15 5.08e-11 1.05e-08 0.036188231 -mutational_signature_contribution_DBS9 DBS9 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/signatures/dbs/dbs9 3.12e-11 4.87e-14 0.076873307 5.39e-13 8.99e-13 1.54e-12 1.56e-11 1.56e-12 3.51e-13 1.2e-12 1.45e-10 1.69e-14 1.82e-11 1.75e-11 3.75e-13 2.4e-11 9.31e-12 5.31e-05 0.013887761 1.25e-11 6.38e-14 4.91e-14 7.48e-13 2.05e-13 8.31e-13 1.73e-13 8.7e-12 1.11e-12 8.07e-12 7.43e-12 2.93e-12 1.54e-12 8.66e-13 6.1e-12 7.99e-13 1.4e-15 1.02e-11 0.044762154 0.021185949 0.041686787 0.047478678 1.38e-09 1.54e-11 7.62e-11 2.28e-12 4.01e-12 5.65e-12 3.42e-12 0.006522596 0.048497335 9.3e-09 0.011877829 5.5e-12 1.46e-13 1.31e-11 3.49e-14 2.01e-12 2.56e-12 1.05e-11 1.75e-12 7.25e-13 -mutational_signature_contribution_DBS10 DBS10 (MMR) Defective DNA mismatch repair (MMR) https://cancer.sanger.ac.uk/signatures/dbs/dbs10 4.31e-13 0.001564567 2.77e-12 2.8e-13 1.51e-11 0.02824899 2.76e-13 3.31e-11 2.92e-15 4.63e-12 1.7e-11 0.050278108 0.032226239 0.013825856 3.55e-12 6.31e-11 5.54e-13 5.8e-12 0.099886249 1.5e-11 2.06e-12 6.01e-13 0.019638917 3.87e-12 4.72e-13 6.82e-13 8.92e-14 2.25e-14 4.77e-13 1.33e-12 2.32e-12 1.72e-11 1.42e-12 0.052528913 1.89e-08 0.076403255 0.018454107 0.001621078 1.02e-10 0.016889742 0.012318905 3.49e-12 1.28e-12 7.01e-13 1.19e-15 4.89e-13 1.8e-11 0.015185775 8e-12 3.61e-13 1.14e-14 1.02e-12 1.25e-11 0.019031251 0.047109706 0.051072457 0.049703762 3.76e-12 5.41e-13 0.008376902 2.04e-12 -mutational_signature_contribution_DBS11 DBS11 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/dbs/dbs11 4.04e-12 1.94e-10 4.55e-10 1.13e-10 1.6e-12 2.08e-10 2.91e-12 1.2e-10 1.84e-11 5.59e-11 9.28e-12 9.86e-13 0.018378739 1.24e-13 2.63e-13 3.56e-13 2.37e-13 0.022638208 2.24e-13 7.29e-11 2.84e-11 8.04e-13 2.5e-11 2.06e-13 1.43e-12 1.59e-11 1.85e-12 1.03e-11 5.64e-13 8.52e-16 1.93e-12 1.15e-12 3.39e-14 1.61e-13 1.93e-12 2.94e-12 1.31e-13 7.55e-10 7.48e-11 5.26e-09 1.67e-11 5.14e-10 0.022869215 4.26e-11 4.57e-11 1.16e-12 2.01e-12 3.73e-10 1.46e-11 4.7e-07 1.08e-12 9.78e-13 1.82e-12 2.31e-12 2.9e-12 3.62e-12 8.87e-13 8.94e-12 1.76e-12 3.05e-11 7.56e-14 diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_contribution_ID.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_contribution_ID.txt deleted file mode 100644 index f8de6a12332..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_contribution_ID.txt +++ /dev/null @@ -1,11 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION URL P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A P17_Pri_B P17_Pri_C P17_Rec1_A P17_Rec1_B P17_Rec1_C P17_Rec1_D P18_Pri_A P18_Pri_B P18_Pri_C P18_Pri_D P18_Rec P21_Pri P21_Rec P24_Pri P24_Rec1 P24_Rec2 P25_Pri P25_Rec P26_Pri_A P26_Pri_B P26_Rec1_A P26_Rec1_B P27_Pri_A P27_Pri_B P27_Rec1_A P27_Rec1_B P28_Pri P28_Rec P29_Pri P29_Rec -mutational_signature_contribution_ID1 ID1 (Slippage) Slippage during DNA replication of the replicated DNA strand https://cancer.sanger.ac.uk/signatures/id/id1 0.161391792 7.81e-12 0.350194272 0.530024703 0.603263184 0.348154205 0.072406334 0.087024012 0.21191492 0.014529816 0.508300748 0.194153496 0.06113226 0.084352005 0.287964133 0.251727371 0.205356687 0.083053248 0.536247242 4.91e-09 0.124629503 0.110053033 0.337816964 0.360359427 0.23759299 0.326192829 0.459724989 0.25247954 0.364924079 0.333889724 0.171522165 0.267074288 0.267084307 0.319666873 0.264870747 0.351593287 0.30353565 0.009120068 0.092336212 0.053019568 0.042186435 0.018185435 0.252923559 0.025281129 0.310322962 0.437355516 1.06e-07 0.33445081 0.391659268 0.169648285 0.109860641 0.217435339 0.256903985 0.376137194 0.132182686 0.282106774 0.274784748 0.246398853 0.210495254 0.384682464 0.256226107 -mutational_signature_contribution_ID2 ID2 (Slippage) Slippage during DNA replication of the template DNA strand https://cancer.sanger.ac.uk/signatures/id/id2 3.61e-09 6.59e-13 2.77e-11 2.01e-13 1.15e-12 1.18e-11 3.81e-12 2.58e-10 4.85e-11 4.18e-13 4.63e-14 1.52e-14 3.94e-10 3.01e-11 2.54e-11 1.83e-10 8.08e-10 1.34e-09 1.43e-12 1.13e-10 1.89e-11 1.36e-13 2.29e-10 3.58e-11 5.43e-11 1.53e-10 4.35e-12 2.4e-10 4.06e-11 5.54e-11 1.16e-12 1.99e-13 2.54e-13 4.17e-12 4.81e-15 1.01e-12 2.83e-13 3.9e-12 1.42e-10 1.58e-10 5.46e-12 3.12e-13 2.5e-11 3.06e-11 1.6e-10 5.25e-13 2.25e-10 0.007282052 3.46e-11 6.53e-11 4.46e-12 2.6e-12 6.96e-11 1.15e-11 3.39e-11 2.09e-10 4.94e-11 5.93e-12 4.71e-11 3.01e-11 7.03e-11 -mutational_signature_contribution_ID3 ID3 (Smoking) Associated with tobacco smoking https://cancer.sanger.ac.uk/signatures/id/id3 8.85e-11 2.51e-12 3.71e-12 5.47e-12 3.34e-12 2.82e-15 2.4e-12 9.38e-15 7.51e-12 1.01e-11 5.24e-11 1.22e-11 1.55e-10 2.93e-13 1.34e-14 3.24e-11 4.78e-12 2.87e-12 2.46e-12 1.04e-10 1.72e-11 0.042310566 1.37e-13 2.76e-13 2.27e-13 3.54e-12 5.31e-12 5.8e-12 1.05e-12 1.27e-12 1.14e-11 4.05e-12 1.18e-13 5.83e-12 2.39e-11 8.2e-12 7.03e-14 1.99e-12 8.85e-11 2.07e-13 6.27e-12 7.75e-10 3.63e-15 7.13e-11 3.03e-11 1.5e-11 1.39e-11 8.59e-13 2.82e-10 6.46e-13 1.16e-13 6e-15 3.56e-13 2.11e-12 2.26e-12 9.02e-13 6.29e-12 8.32e-13 6.69e-12 1.12e-14 3.33e-12 -mutational_signature_contribution_ID4 ID4 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/id/id4 5.24e-11 0.029046246 1.02e-11 3.09e-12 1.36e-10 9.13e-12 0.248008204 0.004214467 0.044913489 0.056653196 1.01e-11 6.8e-12 6.86e-12 3.12e-10 5.24e-12 5.27e-10 2.27e-12 2.64e-10 6e-12 0.058252764 2.02e-09 0.144958509 1.66e-11 6.86e-10 0.148772257 2.59e-13 0.039658448 2.23e-10 1.5e-11 1.42e-11 1.74e-12 1.06e-12 2.98e-10 2.52e-10 1.89e-12 8.52e-12 1.04e-11 0.089340699 6.08e-12 0.120508458 0.022196151 0.024383193 8.74e-12 2.62e-09 2.38e-12 2.52e-11 0.052402531 2.58e-10 5.44e-08 0.231212881 0.254919992 0.147392112 0.106705677 3.79e-11 2.31e-11 3.54e-11 5.24e-11 0.063212471 4.65e-10 2.44e-11 4.27e-10 -mutational_signature_contribution_ID5 ID5 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/id/id5 4.04e-12 1.94e-10 4.55e-10 1.13e-10 1.6e-12 2.08e-10 2.91e-12 1.2e-10 1.84e-11 5.59e-11 9.28e-12 9.86e-13 0.018378739 1.24e-13 2.63e-13 3.56e-13 2.37e-13 0.022638208 2.24e-13 7.29e-11 2.84e-11 8.04e-13 2.5e-11 2.06e-13 1.43e-12 1.59e-11 1.85e-12 1.03e-11 5.64e-13 8.52e-16 1.93e-12 1.15e-12 3.39e-14 1.61e-13 1.93e-12 2.94e-12 1.31e-13 7.55e-10 7.48e-11 5.26e-09 1.67e-11 5.14e-10 0.022869215 4.26e-11 4.57e-11 1.16e-12 2.01e-12 3.73e-10 1.46e-11 4.7e-07 1.08e-12 9.78e-13 1.82e-12 2.31e-12 2.9e-12 3.62e-12 8.87e-13 8.94e-12 1.76e-12 3.05e-11 7.56e-14 -mutational_signature_contribution_ID6 ID6 (HRD) homologous recombination-based DNA damage repair defects (HRD) https://cancer.sanger.ac.uk/signatures/id/id6 0.024666507 1.99e-11 2.46e-12 7.76e-13 1.5e-12 1.14e-13 3.7e-14 2.98e-12 4.17e-12 1.62e-09 1.37e-11 2.89e-12 6.68e-13 3.12e-11 4.76e-13 1.08e-13 1.56e-14 1.39e-14 5.22e-13 1.19e-09 0.034691707 0.051084508 3.12e-12 7.02e-13 7.11e-13 2.08e-12 2.84e-14 0.038602556 1.61e-11 5.79e-13 0.021265005 0.022457619 0.022460502 1.19e-12 4.49e-13 1.07e-12 1.3e-11 3.21e-09 5.82e-16 0.008357175 2.3e-10 1.28e-11 1.04e-14 1.55e-15 3.79e-12 3.01e-13 3.15e-11 2.14e-13 1.31e-12 1.22e-11 8.64e-14 1.04e-11 8.2e-11 3.5e-13 6.48e-12 5.03e-13 1.52e-12 5.3e-13 3.51e-11 1.65e-12 2.45e-12 -mutational_signature_contribution_ID7 ID7 (MMR) Defective DNA mismatch repair https://cancer.sanger.ac.uk/signatures/id/id7 1.96e-12 1.44e-11 0.085988697 0.082577772 1.61e-11 1.9e-14 0.032363234 0.014618877 7e-13 1.15e-11 6.56e-12 0.03619016 1.13e-16 2.93e-13 0.042558932 1.82e-13 5.17e-13 4.99e-12 7.55e-13 0.000142215 5.16e-13 8.99e-12 3.18e-15 1.32e-12 1.69e-13 1.48e-12 8.07e-14 0.027140216 2.67e-12 1.47e-12 1.8e-13 4.32e-12 3.34e-12 9.04e-12 4.09e-12 1.06e-12 2.03e-12 6.41e-12 2.36e-12 2.99e-13 1.33e-13 0.00057898 2.13e-16 2.31e-14 1e-12 1.81e-13 0.000194622 0.028797734 0.046225855 5.62e-13 1.34e-12 6.52e-15 1.65e-11 1.27e-13 4.3e-12 5.24e-13 2.35e-13 4.28e-13 7.87e-13 4.04e-12 5.14e-13 -mutational_signature_contribution_ID8 ID8 (Unknown) Appears to be caused by at least two underlying mechanisms: the features of ID8 mutations have some similarities to those of radiation induced mutations and the small number of tumors with the somatic p.K743N mutation have a form of ID8 that shows evidence of transcription-associated damage https://cancer.sanger.ac.uk/signatures/id/id8 1.51e-12 5.88e-09 3.13e-12 0.057349001 2.93e-08 0.055255327 0.116236253 0.040020774 0.017761197 7.26e-12 2.16e-13 1.63e-13 0.039852184 1.71e-12 0.083661094 6e-12 0.086640274 1.58e-11 8.37e-11 9.3e-13 1.2e-10 8.57e-13 1.59e-14 5.3e-13 1.13e-10 0.012337512 4.75e-11 2.2e-10 9.01e-12 5e-13 3.92e-12 1.35e-13 4.27e-13 1.99e-11 2.48e-11 1.56e-12 3.17e-11 1.65e-12 0.010896891 0.003126617 7.12e-12 6.91e-10 6.62e-11 1.94e-11 2.29e-13 2.28e-11 2.33e-10 1.67e-12 0.023027541 7.37e-12 1.55e-12 3.69e-16 1.43e-11 4.24e-13 1.74e-12 4.02e-13 1.15e-11 7.7e-13 1.3e-11 2.92e-13 1.36e-12 -mutational_signature_contribution_ID9 ID9 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/id/id9 6.39e-10 0.582884555 0.047019779 4.13e-13 2.43e-12 1.32e-12 9.42e-13 1.03e-13 2.42e-16 0.696693216 2.33e-12 1.11e-08 2.25e-14 0.010512037 6.69e-14 5.46e-11 2.89e-12 2.38e-12 1.8e-12 0.693477206 1.13e-11 2.4e-14 1.23e-11 3.73e-12 2.77e-10 0.078320922 1.04e-13 8.36e-12 6.38e-12 0.058281917 6.61e-13 4.12e-12 1.66e-12 3.75e-13 9.4e-12 2.71e-13 2.61e-12 1.62e-12 3.94e-11 2.69e-14 6.53e-12 0.675742227 1.42e-13 0.439503908 1.17e-12 5.61e-13 0.708301951 2.46e-12 2.3e-11 4.07e-14 3.3e-12 6.8e-13 2.16e-12 3.56e-12 4.71e-12 4.73e-14 4.65e-11 1.75e-12 2.26e-11 7.16e-12 7.49e-11 -mutational_signature_contribution_ID10 ID10 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/id/id10 6.78e-13 3.73e-10 4.33e-14 4.25e-12 4.05e-13 1.88e-09 8.13e-12 4.34e-11 3.65e-13 1.32e-12 2.71e-11 1.69e-10 9.22e-11 0.019794344 2.48e-11 1.38e-12 3.55e-11 1.29e-11 0.030784295 0.001019228 1.86e-08 3.79e-09 3.95e-10 8.26e-10 2.75e-10 3.98e-12 1.33e-12 1.45e-10 9.03e-12 1.32e-12 7.76e-13 4.99e-12 1.15e-13 3.1e-10 0.034655755 6.43e-11 0.15945464 1.65e-11 6.26e-09 2.91e-10 2.41e-10 1.41e-10 5.78e-14 2.51e-11 1.24e-13 0.069282926 8.84e-11 0.174085022 3.48e-11 1.92e-12 8.38e-12 3.13e-11 5.77e-11 8.55e-14 5.66e-12 9.03e-17 1.78e-10 0.102867882 2.41e-09 2.23e-11 4.04e-12 diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_contribution_SBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_contribution_SBS.txt deleted file mode 100644 index 8f667cb64ab..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_contribution_SBS.txt +++ /dev/null @@ -1,31 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION URL P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A P17_Pri_B P17_Pri_C P17_Rec1_A P17_Rec1_B P17_Rec1_C P17_Rec1_D P18_Pri_A P18_Pri_B P18_Pri_C P18_Pri_D P18_Rec P21_Pri P21_Rec P24_Pri P24_Rec1 P24_Rec2 P25_Pri P25_Rec P26_Pri_A P26_Pri_B P26_Rec1_A P26_Rec1_B P27_Pri_A P27_Pri_B P27_Rec1_A P27_Rec1_B P28_Pri P28_Rec P29_Pri P29_Rec -mutational_signature_contribution_SBS1 SBS1 (Age) Number of mutations corellated with age https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS1.tt 0.161391792 7.81e-12 0.350194272 0.530024703 0.603263184 0.348154205 0.072406334 0.087024012 0.21191492 0.014529816 0.508300748 0.194153496 0.06113226 0.084352005 0.287964133 0.251727371 0.205356687 0.083053248 0.536247242 4.91e-09 0.124629503 0.110053033 0.337816964 0.360359427 0.23759299 0.326192829 0.459724989 0.25247954 0.364924079 0.333889724 0.171522165 0.267074288 0.267084307 0.319666873 0.264870747 0.351593287 0.30353565 0.009120068 0.092336212 0.053019568 0.042186435 0.018185435 0.252923559 0.025281129 0.310322962 0.437355516 1.06e-07 0.33445081 0.391659268 0.169648285 0.109860641 0.217435339 0.256903985 0.376137194 0.132182686 0.282106774 0.274784748 0.246398853 0.210495254 0.384682464 0.256226107 -mutational_signature_contribution_SBS2 SBS2 (APOBEC) Attributed to activity of AID/APOBEC family of cytidine deaminases https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS2.tt 2.92e-14 3.36e-10 0.03035481 0.028093203 3.18e-13 1.09e-12 2.19e-12 1.78e-13 2.5e-13 4.55e-10 1.23e-12 9.28e-12 0.038576075 0.003554835 3.64e-11 0.049899139 5.3e-12 2.57e-09 0.028252304 8.55e-09 7.32e-13 4.66e-14 1.22e-13 8.17e-14 1.67e-12 2.09e-12 8.03e-13 1.15e-08 3.94e-15 5.76e-13 2.21e-12 7.35e-12 1.26e-11 7.13e-13 8.55e-12 1.02e-17 1.29e-12 0.056504962 0.007129473 0.048379 0.056605897 4.1e-08 0.026292235 0.053899436 4.47e-12 1.74e-13 8.67e-09 1.12e-15 1.9e-12 5.73e-14 2.32e-12 4.31e-12 0.021356348 0.060817867 0.040002111 0.039955573 0.043086765 4.7e-13 5.37e-12 1.53e-11 1.84e-12 -mutational_signature_contribution_SBS3 SBS3 (HRD) Attributed to homologous recombination defects (HRD) in DNA damage response, most often found with germline and somatic BRCA mutations in breast, pancreatic, ovarian cancers, and in pancreatic tumors responsive to platinum therapy https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS3.tt 3.61e-09 6.59e-13 2.77e-11 2.01e-13 1.15e-12 1.18e-11 3.81e-12 2.58e-10 4.85e-11 4.18e-13 4.63e-14 1.52e-14 3.94e-10 3.01e-11 2.54e-11 1.83e-10 8.08e-10 1.34e-09 1.43e-12 1.13e-10 1.89e-11 1.36e-13 2.29e-10 3.58e-11 5.43e-11 1.53e-10 4.35e-12 2.4e-10 4.06e-11 5.54e-11 1.16e-12 1.99e-13 2.54e-13 4.17e-12 4.81e-15 1.01e-12 2.83e-13 3.9e-12 1.42e-10 1.58e-10 5.46e-12 3.12e-13 2.5e-11 3.06e-11 1.6e-10 5.25e-13 2.25e-10 0.007282052 3.46e-11 6.53e-11 4.46e-12 2.6e-12 6.96e-11 1.15e-11 3.39e-11 2.09e-10 4.94e-11 5.93e-12 4.71e-11 3.01e-11 7.03e-11 -mutational_signature_contribution_SBS4 SBS4 (Smoking) Associated with tobacco smoking likely due to direct DNA damage by tobacco smoke mutagens https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS4.tt 8.85e-11 2.51e-12 3.71e-12 5.47e-12 3.34e-12 2.82e-15 2.4e-12 9.38e-15 7.51e-12 1.01e-11 5.24e-11 1.22e-11 1.55e-10 2.93e-13 1.34e-14 3.24e-11 4.78e-12 2.87e-12 2.46e-12 1.04e-10 1.72e-11 0.042310566 1.37e-13 2.76e-13 2.27e-13 3.54e-12 5.31e-12 5.8e-12 1.05e-12 1.27e-12 1.14e-11 4.05e-12 1.18e-13 5.83e-12 2.39e-11 8.2e-12 7.03e-14 1.99e-12 8.85e-11 2.07e-13 6.27e-12 7.75e-10 3.63e-15 7.13e-11 3.03e-11 1.5e-11 1.39e-11 8.59e-13 2.82e-10 6.46e-13 1.16e-13 6e-15 3.56e-13 2.11e-12 2.26e-12 9.02e-13 6.29e-12 8.32e-13 6.69e-12 1.12e-14 3.33e-12 -mutational_signature_contribution_SBS5 SBS5 (Unknown) Unknown etiology but is clock-like with the number of mutations in most cancers and normal cells correlated with the age https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS5.tt 3.86e-12 5.69e-11 1.94e-11 5.49e-10 5.33e-10 3.07e-11 8.25e-11 1.24e-10 2.29e-11 3.77e-11 4.34e-11 9.68e-11 7e-12 1.39e-11 7.29e-12 3.18e-10 1.86e-14 4.64e-12 3.29e-12 2.94e-10 2.44e-10 3.96e-10 1.67e-13 7.12e-11 1.43e-10 2.32e-10 7.7e-13 3.69e-10 1.7e-12 1.56e-10 1.4e-11 7.78e-13 8.15e-12 1.23e-10 1.27e-12 1.77e-11 3.88e-11 2.94e-11 2.13e-10 4.18e-10 2.97e-10 6.31e-14 8.51e-13 3.13e-11 4.25e-11 1.2e-11 8.31e-11 6.77e-12 7.45e-12 9.11e-13 6.25e-11 1.48e-11 8.78e-11 2.13e-10 8.35e-11 8.23e-13 2.45e-11 8.82e-11 1.27e-14 4.45e-11 6.71e-11 -mutational_signature_contribution_SBS6 SBS6 (MMR/MSI) Associated with defective DNA mismatch repair (MMR) and is found in microsatellite unstable (MSI) tumors; one of 7 signatures associated with MMR/MSI along with SBS14, SBS15, SBS20, SBS21, SBS26, and SBS44 https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS6.tt 5.24e-11 0.029046246 1.02e-11 3.09e-12 1.36e-10 9.13e-12 0.248008204 0.004214467 0.044913489 0.056653196 1.01e-11 6.8e-12 6.86e-12 3.12e-10 5.24e-12 5.27e-10 2.27e-12 2.64e-10 6e-12 0.058252764 2.02e-09 0.144958509 1.66e-11 6.86e-10 0.148772257 2.59e-13 0.039658448 2.23e-10 1.5e-11 1.42e-11 1.74e-12 1.06e-12 2.98e-10 2.52e-10 1.89e-12 8.52e-12 1.04e-11 0.089340699 6.08e-12 0.120508458 0.022196151 0.024383193 8.74e-12 2.62e-09 2.38e-12 2.52e-11 0.052402531 2.58e-10 5.44e-08 0.231212881 0.254919992 0.147392112 0.106705677 3.79e-11 2.31e-11 3.54e-11 5.24e-11 0.063212471 4.65e-10 2.44e-11 4.27e-10 -mutational_signature_contribution_SBS7a SBS7a (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7b, SBS7c, and SBS7d) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7a.tt 0.028501391 0.073244455 2.36e-12 6.03e-13 5.92e-12 9.4e-13 8.89e-13 1.35e-11 2.87e-15 0.055267791 3.84e-12 0.040586488 8.38e-11 0.013085699 6.43e-12 1.42e-12 2.49e-13 0.093402862 5.07e-12 0.048403939 1.96e-11 8.08e-11 2.48e-10 1.67e-14 3.67e-12 5.81e-11 7.08e-14 0.062913226 1.83e-12 2.35e-16 3.75e-14 1.07e-11 6.63e-12 0.040004583 8.63e-10 0.045812912 1.4e-08 0.014660394 2.35e-12 5.16e-12 4.35e-14 0.052887904 1.41e-11 1.54e-08 6.16e-13 4.66e-12 0.031592875 0.134187645 0.053704398 6.5e-13 1.61e-16 2.36e-12 2.63e-11 5.55e-12 2.33e-12 4.4e-13 5.63e-13 1.37e-12 7.83e-12 0.057895497 0.041908314 -mutational_signature_contribution_SBS7b SBS7b (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7a, SBS7c, and SBS7d) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7b.tt 2.82e-12 1.79e-06 1.53e-12 4.19e-11 1.76e-09 1.73e-11 4.48e-10 1.24e-12 4.48e-11 0.064252187 7.71e-12 9.45e-11 6.98e-12 0.005283611 2.8e-11 6.22e-12 2.78e-13 6.86e-12 1.37e-12 1.24e-05 0.052331175 0.011470028 0.157920518 1.15e-10 5.64e-14 8.73e-13 2.44e-10 0.060675684 1.41e-11 2.95e-11 1.9e-12 2.6e-12 1.17e-12 0.000300917 0.072207682 3.52e-08 0.080994608 7.45e-15 1.43e-11 3.74e-14 1.55e-12 0.033264351 3.1e-13 0.194084096 2.09e-13 2.47e-12 0.010334724 8.26e-09 6.99e-09 9.33e-14 4.83e-14 7.46e-13 3.3e-11 0.058273316 0.096473508 5.27e-08 0.110586846 2.74e-15 5.08e-11 1.05e-08 0.036188231 -mutational_signature_contribution_SBS7c SBS7c (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7a, SBS7b, and SBS7d) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7c.tt 3.12e-11 4.87e-14 0.076873307 5.39e-13 8.99e-13 1.54e-12 1.56e-11 1.56e-12 3.51e-13 1.2e-12 1.45e-10 1.69e-14 1.82e-11 1.75e-11 3.75e-13 2.4e-11 9.31e-12 5.31e-05 0.013887761 1.25e-11 6.38e-14 4.91e-14 7.48e-13 2.05e-13 8.31e-13 1.73e-13 8.7e-12 1.11e-12 8.07e-12 7.43e-12 2.93e-12 1.54e-12 8.66e-13 6.1e-12 7.99e-13 1.4e-15 1.02e-11 0.044762154 0.021185949 0.041686787 0.047478678 1.38e-09 1.54e-11 7.62e-11 2.28e-12 4.01e-12 5.65e-12 3.42e-12 0.006522596 0.048497335 9.3e-09 0.011877829 5.5e-12 1.46e-13 1.31e-11 3.49e-14 2.01e-12 2.56e-12 1.05e-11 1.75e-12 7.25e-13 -mutational_signature_contribution_SBS7d SBS7d (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7a, SBS7b, and SBS7c) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7d.tt 4.31e-13 0.001564567 2.77e-12 2.8e-13 1.51e-11 0.02824899 2.76e-13 3.31e-11 2.92e-15 4.63e-12 1.7e-11 0.050278108 0.032226239 0.013825856 3.55e-12 6.31e-11 5.54e-13 5.8e-12 0.099886249 1.5e-11 2.06e-12 6.01e-13 0.019638917 3.87e-12 4.72e-13 6.82e-13 8.92e-14 2.25e-14 4.77e-13 1.33e-12 2.32e-12 1.72e-11 1.42e-12 0.052528913 1.89e-08 0.076403255 0.018454107 0.001621078 1.02e-10 0.016889742 0.012318905 3.49e-12 1.28e-12 7.01e-13 1.19e-15 4.89e-13 1.8e-11 0.015185775 8e-12 3.61e-13 1.14e-14 1.02e-12 1.25e-11 0.019031251 0.047109706 0.051072457 0.049703762 3.76e-12 5.41e-13 0.008376902 2.04e-12 -mutational_signature_contribution_SBS8 SBS8 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS8.tt 4.04e-12 1.94e-10 4.55e-10 1.13e-10 1.6e-12 2.08e-10 2.91e-12 1.2e-10 1.84e-11 5.59e-11 9.28e-12 9.86e-13 0.018378739 1.24e-13 2.63e-13 3.56e-13 2.37e-13 0.022638208 2.24e-13 7.29e-11 2.84e-11 8.04e-13 2.5e-11 2.06e-13 1.43e-12 1.59e-11 1.85e-12 1.03e-11 5.64e-13 8.52e-16 1.93e-12 1.15e-12 3.39e-14 1.61e-13 1.93e-12 2.94e-12 1.31e-13 7.55e-10 7.48e-11 5.26e-09 1.67e-11 5.14e-10 0.022869215 4.26e-11 4.57e-11 1.16e-12 2.01e-12 3.73e-10 1.46e-11 4.7e-07 1.08e-12 9.78e-13 1.82e-12 2.31e-12 2.9e-12 3.62e-12 8.87e-13 8.94e-12 1.76e-12 3.05e-11 7.56e-14 -mutational_signature_contribution_SBS9 SBS9 (POL-eta) May be due in part to mutations induced during replication by polymerase eta as part of somatic hypermutation in lymphoid cells https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS9.tt 0.024666507 1.99e-11 2.46e-12 7.76e-13 1.5e-12 1.14e-13 3.7e-14 2.98e-12 4.17e-12 1.62e-09 1.37e-11 2.89e-12 6.68e-13 3.12e-11 4.76e-13 1.08e-13 1.56e-14 1.39e-14 5.22e-13 1.19e-09 0.034691707 0.051084508 3.12e-12 7.02e-13 7.11e-13 2.08e-12 2.84e-14 0.038602556 1.61e-11 5.79e-13 0.021265005 0.022457619 0.022460502 1.19e-12 4.49e-13 1.07e-12 1.3e-11 3.21e-09 5.82e-16 0.008357175 2.3e-10 1.28e-11 1.04e-14 1.55e-15 3.79e-12 3.01e-13 3.15e-11 2.14e-13 1.31e-12 1.22e-11 8.64e-14 1.04e-11 8.2e-11 3.5e-13 6.48e-12 5.03e-13 1.52e-12 5.3e-13 3.51e-11 1.65e-12 2.45e-12 -mutational_signature_contribution_SBS10a SBS10a (POLE) Attributed to polymerase epsilon exonuclease domain mutations https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS10a.tt 1.96e-12 1.44e-11 0.085988697 0.082577772 1.61e-11 1.9e-14 0.032363234 0.014618877 7e-13 1.15e-11 6.56e-12 0.03619016 1.13e-16 2.93e-13 0.042558932 1.82e-13 5.17e-13 4.99e-12 7.55e-13 0.000142215 5.16e-13 8.99e-12 3.18e-15 1.32e-12 1.69e-13 1.48e-12 8.07e-14 0.027140216 2.67e-12 1.47e-12 1.8e-13 4.32e-12 3.34e-12 9.04e-12 4.09e-12 1.06e-12 2.03e-12 6.41e-12 2.36e-12 2.99e-13 1.33e-13 0.00057898 2.13e-16 2.31e-14 1e-12 1.81e-13 0.000194622 0.028797734 0.046225855 5.62e-13 1.34e-12 6.52e-15 1.65e-11 1.27e-13 4.3e-12 5.24e-13 2.35e-13 4.28e-13 7.87e-13 4.04e-12 5.14e-13 -mutational_signature_contribution_SBS10b SBS10b (POLE) Attributed to polymerase epsilon exonuclease domain mutations https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS10b.tt 1.51e-12 5.88e-09 3.13e-12 0.057349001 2.93e-08 0.055255327 0.116236253 0.040020774 0.017761197 7.26e-12 2.16e-13 1.63e-13 0.039852184 1.71e-12 0.083661094 6e-12 0.086640274 1.58e-11 8.37e-11 9.3e-13 1.2e-10 8.57e-13 1.59e-14 5.3e-13 1.13e-10 0.012337512 4.75e-11 2.2e-10 9.01e-12 5e-13 3.92e-12 1.35e-13 4.27e-13 1.99e-11 2.48e-11 1.56e-12 3.17e-11 1.65e-12 0.010896891 0.003126617 7.12e-12 6.91e-10 6.62e-11 1.94e-11 2.29e-13 2.28e-11 2.33e-10 1.67e-12 0.023027541 7.37e-12 1.55e-12 3.69e-16 1.43e-11 4.24e-13 1.74e-12 4.02e-13 1.15e-11 7.7e-13 1.3e-11 2.92e-13 1.36e-12 -mutational_signature_contribution_SBS11 SBS11 (TMZ) Exhibits a mutational pattern resembling that of alkylating agents and associated with patient histories of temozolomide (TMZ) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS11.tt 6.39e-10 0.582884555 0.047019779 4.13e-13 2.43e-12 1.32e-12 9.42e-13 1.03e-13 2.42e-16 0.696693216 2.33e-12 1.11e-08 2.25e-14 0.010512037 6.69e-14 5.46e-11 2.89e-12 2.38e-12 1.8e-12 0.693477206 1.13e-11 2.4e-14 1.23e-11 3.73e-12 2.77e-10 0.078320922 1.04e-13 8.36e-12 6.38e-12 0.058281917 6.61e-13 4.12e-12 1.66e-12 3.75e-13 9.4e-12 2.71e-13 2.61e-12 1.62e-12 3.94e-11 2.69e-14 6.53e-12 0.675742227 1.42e-13 0.439503908 1.17e-12 5.61e-13 0.708301951 2.46e-12 2.3e-11 4.07e-14 3.3e-12 6.8e-13 2.16e-12 3.56e-12 4.71e-12 4.73e-14 4.65e-11 1.75e-12 2.26e-11 7.16e-12 7.49e-11 -mutational_signature_contribution_SBS12 SBS12 (Unknown) Etiology unknown https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS12.tt 6.78e-13 3.73e-10 4.33e-14 4.25e-12 4.05e-13 1.88e-09 8.13e-12 4.34e-11 3.65e-13 1.32e-12 2.71e-11 1.69e-10 9.22e-11 0.019794344 2.48e-11 1.38e-12 3.55e-11 1.29e-11 0.030784295 0.001019228 1.86e-08 3.79e-09 3.95e-10 8.26e-10 2.75e-10 3.98e-12 1.33e-12 1.45e-10 9.03e-12 1.32e-12 7.76e-13 4.99e-12 1.15e-13 3.1e-10 0.034655755 6.43e-11 0.15945464 1.65e-11 6.26e-09 2.91e-10 2.41e-10 1.41e-10 5.78e-14 2.51e-11 1.24e-13 0.069282926 8.84e-11 0.174085022 3.48e-11 1.92e-12 8.38e-12 3.13e-11 5.77e-11 8.55e-14 5.66e-12 9.03e-17 1.78e-10 0.102867882 2.41e-09 2.23e-11 4.04e-12 -mutational_signature_contribution_SBS13 SBS13 (APOBEC) Attributed to activity of the AID/APOBEC family of cytidine deaminases https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS13.tt 0.01630309 3.42e-06 4.19e-13 2.24e-12 5.46e-12 0.068666088 0.005513437 4.86e-13 0.050556829 0.004016019 6.9e-12 0.050706628 1e-12 0.036991139 2.08e-15 1.56e-11 3.25e-13 0.052061423 0.021918404 0.000114859 2.14e-12 7.35e-13 0.050978664 2.93e-14 0.077017327 0.008485094 4.93e-12 2.09e-13 3.64e-12 0.007445912 4.81e-14 7.28e-12 1.81e-13 1.13e-12 1.63e-13 1.84e-12 3.96e-13 5.22e-12 1.3e-11 2.13e-12 1.14e-12 1.49e-11 0.018095271 0.002797093 5.09e-13 2.63e-13 1.95e-12 8.09e-13 0.015626071 3.02e-12 2.56e-11 0.036750894 2.62e-11 1.38e-13 5.39e-12 2.79e-12 7.19e-15 3.58e-14 4.8e-12 2.25e-12 0.006452204 -mutational_signature_contribution_SBS14 SBS14 (MMR/MSI) Associated with concurrent polymerase epsilon mutation, defecticve DNA mismatch repair (MMR), and microsatellite instability (MSI); present in very high numbers in all samples where it has been observed; one of 7 signatures associated with MMR/MSI (SBS6, SBS15, SBS20, SBS21, SBS26, and SBS44) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS14.tt 5.13e-14 8.46e-11 1.71e-11 1.89e-12 3.69e-14 3.54e-11 3.59e-12 7.63e-12 6.26e-12 8.38e-11 2.38e-13 9.22e-14 0.009448574 1.96e-12 5.25e-13 5.55e-12 9.34e-14 7.97e-14 6.8e-13 1.47e-11 2.54e-12 2.65e-13 4.79e-13 1.9e-13 1.14e-13 7.61e-14 0.03338077 0.008426725 3.84e-12 1.4e-12 3.26e-13 5.37e-14 9.81e-12 1.72e-12 9.5e-13 1.15e-14 2.38e-12 1.49e-12 7.24e-12 1.22e-12 8.22e-11 7.7e-09 7.31e-13 4.86e-13 6.49e-13 4.07e-13 6.26e-10 9.71e-12 5.22e-11 1.92e-12 5.02e-12 2.17e-13 1.43e-13 2.3e-13 3.61e-12 4.81e-13 2.45e-14 1.66e-12 1.83e-12 7.11e-12 1.83e-12 -mutational_signature_contribution_SBS15 SBS15 (MMR/MSI) Associated with defecticve DNA mismatch repair (MMR), and microsatellite instability (MSI); one of 7 signatures associated with MMR/MSI (SBS6, SBS14, SBS20, SBS21, SBS26, and SBS44) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS15.tt 3.6e-12 8.76e-05 1.5e-11 7.35e-12 8.57e-12 3.6e-12 3.5e-11 2.33e-10 4.79e-10 0.009352422 9.58e-11 4.91e-12 6.29e-05 0.011836055 1.64e-11 0.007779813 4.17e-12 0.068963989 4.45e-12 0.00418835 0.283365721 0.259211657 4.02e-11 0.141697316 5.44e-10 0.027547295 4.11e-12 1.78e-11 6.63e-13 3.59e-12 1.2e-12 2.98e-11 3.75e-11 2.51e-11 2.26e-12 1.08e-11 3.42e-12 0.027369056 1.23e-10 1.82e-11 4.23e-13 0.00260303 2.25e-09 3.83e-09 9.75e-13 7.64e-14 5.35e-08 2.75e-12 6.73e-08 6.12e-13 3.67e-11 2.35e-10 0.078060151 2.52e-11 6.78e-12 8.22e-11 1.39e-10 3.26e-08 0.023654002 0.068202215 0.037078546 -mutational_signature_contribution_SBS16 SBS16 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS16.tt 2.69e-12 3.29e-11 0.039455961 0.04582136 0.140965186 0.083149131 6.13e-12 0.036037784 8.64e-13 2.49e-11 7.44e-14 0.221563919 1.48e-11 0.005607761 0.004270338 8.78e-11 0.143318667 2.58e-14 0.0492153 3.59e-10 5.88e-11 0.016025441 2.38e-10 0.080122554 0.03884484 0.07814608 5.37e-13 0.055316605 4.01e-12 7.11e-12 0.18699944 0.122999192 0.122996077 0.091593262 0.01345125 0.111565658 0.00859873 0.074518729 0.073174692 0.121625423 0.085044843 4.32e-10 5.34e-12 1.1e-11 0.088551932 3.61e-14 3.11e-11 0.000339204 0.023570722 4.24e-11 2.57e-09 1.85e-10 1.23e-11 0.017069441 0.03478468 0.017891361 0.022672282 0.11539212 5.46e-11 2.93e-10 0.024400808 -mutational_signature_contribution_SBS17a SBS17a (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS17a.tt 0.074882955 0.001234207 3.36e-12 5.4e-13 5.58e-13 3.02e-08 3.82e-12 1.54e-13 0.025213596 2.9e-05 2.45e-14 0.030923563 0.017702377 0.012407034 0.00930267 1.46e-11 4.81e-12 4.57e-12 0.066054921 0.000326356 0.073495687 0.066194607 0.104118875 3.24e-12 7.17e-14 1.4e-13 2.09e-12 1.24e-12 0.108507317 0.107963246 2.61e-12 3.12e-13 8.94e-14 5.87e-12 0.021934405 8.28e-12 0.046547486 3.15e-11 2.37e-13 3.07e-13 1.47e-11 0.001143571 4.02e-13 1.12e-10 1.77e-12 0.049095081 0.00012086 1.01e-11 0.041478718 0.023847178 0.031727209 2.79e-11 0.076153093 1.89e-12 1.66e-14 7e-12 8.5e-14 3.3e-14 0.029478925 3.2e-13 4.19e-12 -mutational_signature_contribution_SBS17b SBS17b (Unknown) Unknown etiology but has been linked to fluorouracil (5FU) chemotherapy treatment and reactive oxygen species damage https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS17b.tt 1.17e-13 1.48e-10 9.85e-12 1.94e-13 6.76e-14 4.17e-13 1.62e-14 8.79e-13 2.02e-11 2.49e-11 5.13e-13 1.59e-13 2.39e-12 4.53e-13 7.21e-13 3.28e-11 6.69e-12 2.84e-13 2.62e-12 7.18e-10 1.33e-13 4.37e-12 6.33e-13 4.58e-15 9.4e-12 3.48e-12 0.016628504 9.57e-12 2.99e-13 2.98e-12 5.15e-12 1.06e-14 1.21e-12 0.029950586 0.025673906 0.034430328 0.023755089 1.54e-12 2.83e-11 0.012297291 2.47e-13 7.44e-09 6.96e-14 2.33e-12 3.12e-14 3.26e-13 3.66e-10 4.5e-12 1.21e-11 3.84e-13 4.04e-15 1.73e-14 4.4e-12 4.08e-13 1.62e-11 0.020510872 0.025182154 4.42e-13 3.24e-12 1.03e-12 0.022423776 -mutational_signature_contribution_SBS18 SBS18 (ROS) Possibly linked to damage by reactive oxygen species (ROS) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS18.tt 8.11e-12 1.03e-10 1.32e-11 6.07e-12 4.15e-14 5.21e-12 3.79e-13 0.006316283 3.15e-12 8.73e-14 8.22e-12 0.110706689 2.71e-09 1.38e-12 1.51e-12 0.038134554 3.11e-12 8.42e-13 1.81e-13 5.06e-12 4.04e-12 0.017203766 8.73e-15 2.74e-13 1.51e-15 3.88e-12 2.47e-12 1.43e-13 8.67e-15 2.48e-12 0.100386778 0.164810974 0.164811601 1.3e-14 6.91e-12 5.35e-11 1.21e-10 1.19e-11 9.51e-11 1.3e-12 2.7e-11 4.66e-11 8.76e-12 5.62e-11 1.91e-13 5.24e-13 7.87e-15 1.79e-11 2.15e-12 1.5e-12 7.28e-15 1.46e-12 3.84e-13 3.91e-12 1.41e-11 2.1e-12 6.02e-13 5.11e-14 1.04e-11 1.5e-12 1.65e-12 -mutational_signature_contribution_SBS19 SBS19 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS19.tt 4.5e-10 4.91e-10 1.72e-11 5.94e-12 6.06e-10 1.52e-14 0.027443428 0.094049971 0.105147608 0.078938279 3.22e-12 2.72e-12 5.03e-14 8.5e-11 4.51e-11 0.112734 4.15e-12 0.152134116 3.83e-14 1.62e-08 7.95e-13 2e-13 5.58e-13 1.4e-12 1.29e-12 1.26e-11 3.76e-08 1.15e-09 8.35e-12 0.022580201 0.045025906 2.95e-12 2.79e-15 3.13e-08 0.015604869 0.01416138 0.010187325 1.5e-11 1.74e-12 4.79e-11 6.02e-12 0.034962453 0.150862168 0.039040224 2.66e-13 1.01e-11 2.23e-06 4.33e-11 1.01e-11 0.052825256 2.05e-12 3.76e-11 7.09e-12 0.054914445 2.77e-08 0.094187578 0.004276758 1.46e-12 4.74e-12 3.01e-10 2.29e-09 -mutational_signature_contribution_SBS20 SBS20 (MMR/MSI) Associated with concurrent POLD1 mutations and defective DNA mismatch repair (MMR)/microsatellite instability (MSI); one of 7 MMR/MSI signatures: SBS6, SBS14, SBS15, SBS21, SBS26, and SBS44 https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS20.tt 9.3e-08 6.9e-11 1.17e-12 1.71e-13 5.87e-15 1.56e-13 8e-12 0.03460318 7.66e-14 2.41e-14 6.93e-13 1.63e-13 2.15e-10 1.05e-10 2.77e-12 3.79e-13 2.3e-13 2.72e-13 3.58e-15 1.33e-09 1e-12 2.08e-11 3.77e-13 2.59e-13 2.53e-12 1.05e-13 3.01e-12 2.38e-12 2.6e-13 6.42e-13 2.44e-12 6.04e-12 4.62e-13 5.05e-12 1.95e-13 3e-12 7.33e-12 2.28e-11 4.34e-11 0.01813657 0.02372699 4.98e-10 1.75e-12 8.67e-11 5.03e-12 2.12e-10 1.35e-12 0.033787663 3.72e-07 2.7e-14 6.34e-12 3.32e-16 4.75e-13 2.69e-12 0.135357889 1.19e-11 3.72e-12 3.29e-12 0.107996261 6.44e-12 2.26e-12 -mutational_signature_contribution_SBS21 SBS21 (MMR/MSI) DNA mismatch repair (MMR) and microsatellite instability (MSI); one of 7 MMR/MSI signatures: SBS6, SBS14, SBS15, SBS20, SBS26, and SBS44 https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS21.tt 9.78e-11 0.006773184 8.46e-13 1.52e-11 3.36e-16 0.116298583 9.33e-12 8.13e-15 0.086857848 0.003338469 5.6e-12 4.97e-11 6.25e-12 4e-10 6.35e-15 1.7e-12 2.29e-12 0.025216336 4.74e-09 7.03e-06 0.012774367 0.029304123 0.09380853 1.48e-12 2.7e-10 2.37e-12 2.25e-13 0.053075103 2.41e-11 1.75e-12 4.8e-12 5.57e-13 5.26e-14 8.31e-12 1.92e-09 5.07e-11 5.95e-10 4.19e-12 1.2e-12 7.34e-14 4.42e-12 1.6e-09 1.19e-08 9.27e-08 6.23e-14 0.085626325 0.001360159 8.96e-08 1.04e-12 1.32e-11 1.2e-13 3.24e-12 4.55e-11 0.080419753 3.51e-10 1.09e-10 2.55e-08 1.17e-12 4.41e-12 0.011329002 0.050805214 -mutational_signature_contribution_SBS22 SBS22 (Arisolochic acid) Associated with aristolochic acid exposure https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS22.tt 1.91e-12 1.83e-10 0.022326141 0.021282761 1.42e-12 1.22e-14 3.08e-12 3.61e-12 7.58e-14 1.22e-11 6.04e-12 1.95e-13 8.58e-12 5.48e-11 1.95e-12 7.06e-13 1.77e-12 1.03e-11 3.03e-14 9.62e-11 0.029862203 0.016962182 2.15e-13 7.3e-14 8.37e-13 5.33e-14 3.66e-12 2.42e-10 4.06e-11 5.12e-12 2.2e-12 4.42e-14 5.55e-13 0.018467734 2.01e-12 0.027411656 2.07e-13 0.061225147 8.24e-13 0.035559714 0.061732246 0.000573038 9.62e-13 4.37e-08 0.081969607 1.09e-12 2.84e-12 3.4e-12 1.13e-11 1.31e-11 0.067989671 9.14e-13 5.36e-12 1.13e-14 6.65e-13 6.18e-12 6.61e-13 0.079686976 0.035587336 8.46e-12 1.32e-12 -mutational_signature_contribution_SBS23 SBS23 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS23.tt 0.102343894 0.296299038 2.16e-09 8.28e-15 5.53e-13 1.31e-12 6.71e-11 1.19e-12 7.16e-12 1.11e-07 1.11e-12 5.9e-13 1.62e-10 0.006669602 4.17e-12 0.095799818 5.85e-12 1.73e-11 2.82e-12 0.193874493 3.54e-11 6.5e-12 1.67e-11 0.039535569 4.13e-12 1.45e-11 0.240668403 0.067333327 0.073131875 1.65e-10 1.17e-11 2.65e-14 3.34e-12 2.88e-11 2.29e-12 2.21e-11 6.39e-13 5.02e-13 0.083172759 1.28e-09 7.65e-09 0.14988572 2.9e-11 7.02e-08 8e-13 1.44e-11 0.190022253 2.38e-12 2.21e-11 1.07e-10 1.13e-12 2.38e-11 1.05e-11 1.21e-10 7.89e-11 1.66e-10 1.41e-11 0.219026118 0.103824325 0.055900791 4.98e-11 -mutational_signature_contribution_SBS24 SBS24 (Aflatoxin) Associated with aflatoxin exposure https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS24.tt 7.63e-18 7.61e-10 0.043815651 3.07e-14 4.82e-13 1.07e-12 2e-12 5.52e-12 8.95e-13 0.005223096 1.27e-12 1.07e-11 5.13e-11 8.01e-11 1.53e-14 1.19e-11 7.95e-13 4.46e-13 7.63e-13 2.55e-12 0.07799844 7.99e-11 4.93e-14 5.76e-13 1.39e-14 1.15e-12 1.89e-12 0.026116335 4.06e-12 0.032346144 1.06e-11 2.28e-14 3.79e-11 5.81e-13 0.065807133 1.78e-12 0.065179899 7.04e-11 6.9e-12 6.14e-11 8.26e-11 2.07e-11 2.36e-11 0.001635219 0.259631813 3.91e-12 1.88e-15 2.92e-12 4.22e-12 1.04e-13 9.33e-13 3.55e-12 1.78e-13 2.5e-13 9.72e-15 0.008709983 3.89e-12 4.45e-12 7.14e-12 1.48e-11 4.81e-12 -mutational_signature_contribution_SBS25 SBS25 (Unknown) Unknown etiology but found in some Hodgkin's cell line samples derived from patients exposed to chemotherapy https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS25.tt 1.5e-13 5.9e-10 3.35e-13 4.69e-14 4.72e-12 6.44e-13 1.36e-11 0.053488612 9.74e-12 1.32e-11 5.21e-11 6.73e-16 2.89e-11 4.55e-11 1.03e-11 1.34e-12 1.52e-13 6.36e-13 1.66e-12 2.97e-11 1.13e-10 1.8e-11 2.39e-11 8.66e-14 1.34e-12 3.36e-13 0.062193138 0.085497595 7.26e-09 2.62e-11 4.84e-14 1.38e-12 4.4e-12 1.86e-09 4.35e-12 2.62e-10 7.87e-12 1.09e-11 3.9e-12 8.79e-11 4.58e-10 1.24e-10 2.52e-12 1.57e-12 2.16e-10 1.72e-12 8.83e-11 1.09e-12 8.66e-13 3.69e-11 7.74e-13 2.08e-13 1.19e-11 7.32e-13 1.61e-12 7.81e-12 3.71e-12 2.46e-11 2.04e-13 0.044157608 3.94e-12 diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_counts_DBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_counts_DBS.txt deleted file mode 100644 index f30c6da2fd3..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_counts_DBS.txt +++ /dev/null @@ -1,79 +0,0 @@ -ENTITY_STABLE_ID NAME P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A P17_Pri_B P17_Pri_C P17_Rec1_A P17_Rec1_B P17_Rec1_C P17_Rec1_D P18_Pri_A P18_Pri_B P18_Pri_C P18_Pri_D P18_Rec P21_Pri P21_Rec P24_Pri P24_Rec1 P24_Rec2 P25_Pri P25_Rec P26_Pri_A P26_Pri_B P26_Rec1_A P26_Rec1_B P27_Pri_A P27_Pri_B P27_Rec1_A P27_Rec1_B P28_Pri P28_Rec P29_Pri P29_Rec -mutational_signature_counts_AC_CA AC>CA 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 -mutational_signature_counts_AC_CG AC>CG 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 -mutational_signature_counts_AC_CT AC>CT 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 -mutational_signature_counts_AC_GA AC>GA 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 -mutational_signature_counts_AC_GG AC>GG 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 -mutational_signature_counts_AC_GT AC>GT 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 -mutational_signature_counts_AC_TA AC>TA 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 -mutational_signature_counts_AC_TG AC>TG 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 -mutational_signature_counts_AC_TT AC>TT 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 -mutational_signature_counts_AT_CA AT>CA 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 -mutational_signature_counts_AT_CC AT>CC 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 -mutational_signature_counts_AT_CG AT>CG 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 -mutational_signature_counts_AT_GA AT>GA 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 -mutational_signature_counts_AT_GC AT>GC 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 -mutational_signature_counts_AT_TA AT>TA 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 -mutational_signature_counts_CC_AA CC>AA 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 -mutational_signature_counts_CC_AG CC>AG 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 -mutational_signature_counts_CC_AT CC>AT 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_CC_GA CC>GA 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_CC_GG CC>GG 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_CC_GT CC>GT 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_CC_TA CC>TA 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_CC_TG CC>TG 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_CC_TT CC>TT 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_CG_AT CG>AT 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_CG_GC CG>GC 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_CG_GT CG>GT 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_CG_TA CG>TA 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_CG_TC CG>TC 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 -mutational_signature_counts_CG_TT CG>TT 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 -mutational_signature_counts_CT_AA CT>AA 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 -mutational_signature_counts_CT_AC CT>AC 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 -mutational_signature_counts_CT_AG CT>AG 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 -mutational_signature_counts_CT_GA CT>GA 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 -mutational_signature_counts_CT_GC CT>GC 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_CT_GG CT>GG 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 -mutational_signature_counts_CT_TA CT>TA 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 -mutational_signature_counts_CT_TC CT>TC 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_CT_TG CT>TG 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 -mutational_signature_counts_GC_AA GC>AA 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_GC_AG GC>AG 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 -mutational_signature_counts_GC_AT GC>AT 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 -mutational_signature_counts_GC_CA GC>CA 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_GC_CG GC>CG 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 -mutational_signature_counts_GC_TA GC>TA 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 -mutational_signature_counts_TA_AT TA>AT 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 -mutational_signature_counts_TA_CG TA>CG 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 -mutational_signature_counts_TA_CT TA>CT 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 -mutational_signature_counts_TA_GC TA>GC 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 -mutational_signature_counts_TA_GG TA>GG 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 -mutational_signature_counts_TA_GT TA>GT 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 -mutational_signature_counts_TC_AA TC>AA 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 -mutational_signature_counts_TC_AG TC>AG 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 -mutational_signature_counts_TC_AT TC>AT 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 -mutational_signature_counts_TC_CA TC>CA 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 -mutational_signature_counts_TC_CG TC>CG 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 174 -mutational_signature_counts_TC_CT TC>CT 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168 169 170 171 172 173 174 175 -mutational_signature_counts_TC_GA TC>GA 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 -mutational_signature_counts_TC_GG TC>GG 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 -mutational_signature_counts_TC_GT TC>GT 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 -mutational_signature_counts_TG_AA TG>AA 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 -mutational_signature_counts_TG_AC TG>AC 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 -mutational_signature_counts_TG_AT TG>AT 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 -mutational_signature_counts_TG_CA TG>CA 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 -mutational_signature_counts_TG_CC TG>CC 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 -mutational_signature_counts_TG_CT TG>CT 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 -mutational_signature_counts_TG_GA TG>GA 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 -mutational_signature_counts_TG_GC TG>GC 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 -mutational_signature_counts_TG_GT TG>GT 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_TT_AA TT>AA 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_TT_AC TT>AC 0 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 -mutational_signature_counts_TT_AG TT>AG 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 -mutational_signature_counts_TT_CA TT>CA 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 -mutational_signature_counts_TT_CC TT>CC 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 -mutational_signature_counts_TT_CG TT>CG 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 -mutational_signature_counts_TT_GA TT>GA 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 -mutational_signature_counts_TT_GC TT>GC 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 -mutational_signature_counts_TT_GG TT>GG 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_counts_ID.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_counts_ID.txt deleted file mode 100644 index 64d602f5345..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_counts_ID.txt +++ /dev/null @@ -1,84 +0,0 @@ -ENTITY_STABLE_ID NAME P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A 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0 0 0 2 0 1 3 0 2 0 0 1 1 -mutational_signature_counts_5_Del_M_3 5:Del:M:3 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 2 0 0 1 1 1 1 0 0 0 0 0 0 1 0 0 0 1 0 0 1 0 0 1 0 1 0 0 1 0 1 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 -mutational_signature_counts_5_Del_M_4 5:Del:M:4 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 -mutational_signature_counts_5_Del_M_5 5:Del:M:5 1 0 0 0 2 2 1 3 1 0 0 0 1 2 0 1 0 0 0 1 2 2 0 1 0 3 0 0 0 0 1 1 1 2 1 1 1 2 1 0 0 1 3 3 0 3 1 0 0 0 1 1 0 2 0 3 1 0 0 1 1 diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_counts_SBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_counts_SBS.txt deleted file mode 100644 index d6f9ba38ee2..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_counts_SBS.txt +++ /dev/null @@ -1,97 +0,0 @@ -ENTITY_STABLE_ID NAME P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A P17_Pri_B P17_Pri_C P17_Rec1_A P17_Rec1_B P17_Rec1_C P17_Rec1_D P18_Pri_A P18_Pri_B P18_Pri_C P18_Pri_D P18_Rec P21_Pri P21_Rec P24_Pri P24_Rec1 P24_Rec2 P25_Pri P25_Rec P26_Pri_A P26_Pri_B P26_Rec1_A P26_Rec1_B P27_Pri_A P27_Pri_B P27_Rec1_A P27_Rec1_B P28_Pri P28_Rec P29_Pri P29_Rec -mutational_signature_counts_A_C_A_A A[C>A]A 1 12 3 4 5 6 7 8 24 17 11 2 0 0 3 3 0 1 0 0 2 1 0 10 0 1 2 2 0 0 1 0 0 1 4 0 2 0 1 5 2 1 0 57 1 2 0 0 0 0 1 0 0 0 0 0 3 2 1 0 3 -mutational_signature_counts_A_C_A_C A[C>A]C 2 13 4 5 6 7 8 9 25 10 10 0 0 1 1 1 4 1 0 0 0 0 0 13 0 0 0 2 0 1 0 2 2 0 4 1 1 0 1 1 0 2 4 58 2 1 1 2 1 1 1 0 0 1 0 0 2 0 1 0 1 -mutational_signature_counts_A_C_A_G A[C>A]G 3 14 5 6 7 8 9 10 26 1 4 1 3 1 0 1 0 0 0 2 1 0 3 11 1 0 3 1 1 1 0 1 1 0 3 1 0 1 0 1 1 1 3 57 1 2 2 0 1 0 1 0 0 1 0 0 1 0 2 2 2 -mutational_signature_counts_A_C_A_T A[C>A]T 4 15 6 7 8 9 10 11 7 6 6 0 0 0 2 0 0 0 1 0 0 1 0 10 0 0 1 0 0 0 3 0 1 0 0 0 2 1 0 1 0 1 1 52 3 0 1 0 0 1 0 0 1 1 1 0 1 0 1 0 2 -mutational_signature_counts_A_C_G_A A[C>G]A 6 17 8 9 10 11 12 13 23 1 3 0 0 1 1 0 0 1 2 0 0 3 0 14 0 0 1 0 0 0 0 0 1 1 0 1 0 1 0 0 0 1 0 21 1 0 0 0 0 0 0 0 1 0 1 0 2 1 1 0 0 -mutational_signature_counts_A_C_G_C A[C>G]C 14 15 16 17 18 19 20 21 15 0 1 0 2 3 0 2 1 1 0 1 0 0 0 16 1 0 0 0 2 1 1 0 0 0 0 0 1 2 0 0 1 0 1 12 2 0 1 0 2 0 0 0 1 0 1 1 0 1 0 0 0 -mutational_signature_counts_A_C_G_G A[C>G]G 13 14 15 16 17 18 19 20 17 1 2 0 0 2 0 0 1 0 0 0 2 1 0 17 1 0 1 1 0 0 1 0 0 2 1 2 1 1 1 1 1 0 1 8 0 2 0 0 0 0 0 1 0 1 0 0 0 0 0 1 1 -mutational_signature_counts_A_C_G_T A[C>G]T 16 17 18 19 20 21 22 23 19 1 3 1 0 1 0 0 0 1 1 0 1 1 0 0 0 1 0 0 0 1 0 0 1 0 0 1 1 1 1 1 0 0 1 11 0 0 0 0 1 1 0 3 1 1 1 0 3 0 0 1 0 -mutational_signature_counts_A_C_T_A A[C>T]A 27 28 29 30 31 32 33 34 21 0 3 0 2 3 5 1 0 1 2 0 1 1 0 14 1 4 1 2 0 0 2 3 1 3 4 2 1 0 0 5 0 1 2 24 0 2 2 5 0 0 2 1 1 0 0 0 3 1 0 2 3 -mutational_signature_counts_A_C_T_C A[C>T]C 4 5 6 7 8 9 10 11 23 2 1 1 2 1 1 1 0 1 1 1 1 1 1 1 0 1 3 1 0 2 4 1 0 0 1 0 3 2 3 1 1 1 1 17 1 1 1 2 1 2 0 2 1 1 1 1 3 2 1 2 2 -mutational_signature_counts_A_C_T_G A[C>T]G 23 24 25 26 27 28 29 30 6 6 9 4 1 8 6 3 1 6 8 6 6 6 3 8 4 4 6 4 3 1 6 4 6 4 5 6 7 5 83 8 4 4 16 19 12 5 6 8 4 8 4 4 6 5 6 2 20 5 3 3 4 -mutational_signature_counts_A_C_T_T A[C>T]T 45 46 47 48 49 50 51 52 5 0 5 2 0 0 0 1 1 2 1 2 1 0 1 23 3 2 0 1 1 1 1 2 1 1 1 1 1 3 2 2 1 1 2 12 0 2 0 1 0 6 1 2 1 0 0 0 4 2 1 2 3 -mutational_signature_counts_A_T_A_A A[T>A]A 43 44 45 46 47 48 49 50 4 0 3 0 0 0 0 0 0 0 0 0 1 0 0 0 2 0 0 0 0 0 1 0 1 1 0 0 0 0 1 0 0 0 0 6 0 0 0 0 1 0 0 0 0 0 0 0 1 1 0 0 0 -mutational_signature_counts_A_T_A_C A[T>A]C 2 3 4 5 6 7 8 9 3 0 1 0 2 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 1 0 0 0 0 0 1 0 0 2 2 0 2 1 9 0 0 0 1 1 0 0 1 0 0 0 0 1 0 0 1 0 -mutational_signature_counts_A_T_A_G A[T>A]G 1 2 3 4 5 6 7 8 2 1 5 0 0 1 0 0 0 1 0 0 1 2 0 0 1 0 0 0 1 1 0 0 1 0 1 0 0 0 2 1 1 0 0 15 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 -mutational_signature_counts_A_T_A_T A[T>A]T 5 6 7 8 9 10 11 12 1 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 0 2 0 1 0 1 -mutational_signature_counts_A_T_C_A A[T>C]A 4 5 6 7 8 9 10 11 5 2 0 2 1 1 3 1 1 0 1 4 1 4 3 4 2 0 1 3 0 1 2 3 2 0 2 2 3 3 1 3 2 0 3 9 3 1 2 5 0 1 1 1 0 0 0 1 1 4 1 0 3 -mutational_signature_counts_A_T_C_C A[T>C]C 2 3 4 5 6 7 8 9 6 1 3 2 0 2 1 1 0 0 0 1 0 0 0 25 2 1 0 0 1 1 0 1 0 1 3 1 1 3 0 0 1 2 0 5 1 2 0 1 1 1 0 0 0 0 0 1 3 1 0 1 2 -mutational_signature_counts_A_T_C_G A[T>C]G 19 20 21 22 23 24 25 26 7 3 7 3 3 2 0 4 2 5 4 5 3 1 4 4 0 3 5 3 3 3 0 7 3 2 5 3 3 6 5 4 1 5 4 14 5 1 2 4 0 3 0 5 0 1 4 2 1 2 2 2 3 -mutational_signature_counts_A_T_C_T A[T>C]T 4 5 6 7 8 9 10 11 8 1 2 2 1 0 3 1 1 4 1 1 1 2 3 38 3 0 4 0 1 0 3 0 0 3 2 1 2 1 1 3 0 2 3 3 1 2 1 2 1 2 1 3 1 2 1 0 4 3 1 4 2 -mutational_signature_counts_A_T_G_A A[T>G]A 8 9 10 11 12 13 14 15 6 0 1 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0 -mutational_signature_counts_A_T_G_C A[T>G]C 21 22 23 24 25 26 27 28 5 0 0 0 0 1 2 1 1 1 2 0 1 0 2 14 0 0 1 0 0 0 1 1 0 0 1 0 0 3 0 1 0 0 1 0 1 0 0 0 0 1 0 0 0 0 1 0 0 0 0 0 0 -mutational_signature_counts_A_T_G_G A[T>G]G 32 33 34 35 36 37 38 39 4 0 2 1 0 0 0 0 1 1 0 0 1 0 0 0 1 1 1 2 0 1 1 1 0 1 0 0 4 3 0 1 1 0 1 8 0 0 1 1 0 2 0 1 0 0 1 1 0 2 0 3 2 -mutational_signature_counts_A_T_G_T A[T>G]T 2 3 4 5 6 7 8 9 3 0 0 0 0 2 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 1 0 0 0 1 3 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0 -mutational_signature_counts_C_C_A_A C[C>A]A 6 7 8 9 10 11 12 13 12 54 22 1 1 2 2 2 2 0 0 1 0 2 2 2 0 0 0 2 2 2 1 0 1 2 4 0 4 3 0 1 3 1 4 158 2 3 0 0 2 1 1 2 0 1 0 0 3 0 1 2 0 -mutational_signature_counts_C_C_A_C C[C>A]C 8 9 10 11 12 13 14 15 13 16 25 2 0 1 1 0 1 1 3 1 2 0 2 3 0 0 3 1 3 4 2 2 1 1 1 2 1 2 2 4 2 0 4 148 2 0 0 1 2 2 0 1 1 3 0 0 3 1 1 3 2 -mutational_signature_counts_C_C_A_G C[C>A]G 5 6 7 8 9 10 11 12 14 17 15 2 1 1 1 1 2 0 1 3 3 1 2 2 1 0 3 2 1 0 2 0 1 0 6 1 2 3 2 1 1 1 1 112 2 3 1 0 1 1 1 1 1 3 1 1 3 0 2 0 1 -mutational_signature_counts_C_C_A_T C[C>A]T 4 15 6 7 8 9 10 11 15 28 19 1 1 1 2 1 1 0 0 1 0 1 2 0 1 1 0 0 1 1 0 2 6 1 1 2 4 1 3 4 1 2 2 151 3 1 1 0 3 2 3 2 2 3 2 3 4 1 2 2 0 -mutational_signature_counts_C_C_G_A C[C>G]A 3 14 5 6 7 8 9 10 16 3 0 1 1 0 3 1 1 1 2 1 1 1 1 35 0 0 2 1 2 2 1 0 0 0 2 0 4 3 1 0 2 1 2 39 1 0 0 0 0 1 0 1 1 2 1 1 0 1 1 0 1 -mutational_signature_counts_C_C_G_C C[C>G]C 2 13 4 5 6 7 8 9 17 1 3 4 0 3 2 3 1 2 0 0 3 1 1 33 1 1 1 1 2 2 1 1 2 3 3 3 1 1 0 1 2 2 6 29 1 1 1 5 2 1 0 3 1 2 2 0 2 0 0 2 1 -mutational_signature_counts_C_C_G_G C[C>G]G 1 12 3 4 5 6 7 8 18 6 2 3 1 2 6 7 0 1 3 6 1 6 4 61 1 3 7 1 3 1 4 4 3 4 4 4 15 8 1 3 5 3 5 23 9 4 6 2 1 4 3 1 0 5 1 2 10 2 0 3 2 -mutational_signature_counts_C_C_G_T C[C>G]T 3 14 5 6 7 8 9 10 19 3 4 1 1 1 3 0 1 1 2 0 0 1 1 2 1 0 0 1 1 1 2 2 2 1 3 0 1 2 0 1 2 0 2 29 1 1 0 1 2 1 2 3 2 2 2 1 5 0 0 2 0 -mutational_signature_counts_C_C_T_A C[C>T]A 5 16 7 8 9 10 11 12 20 2 8 4 1 2 3 0 1 0 2 3 2 2 3 25 1 0 2 1 1 0 1 0 1 2 8 1 0 5 2 6 4 2 3 38 7 2 1 3 3 3 4 0 4 2 3 1 5 1 2 3 2 -mutational_signature_counts_C_C_T_C C[C>T]C 7 8 9 10 11 12 13 14 21 0 5 1 3 5 3 2 1 1 3 1 1 5 5 3 1 2 8 4 9 1 4 1 1 1 5 3 6 3 3 1 2 4 8 39 3 2 4 3 1 2 3 1 4 3 3 2 3 1 3 4 1 -mutational_signature_counts_C_C_T_G C[C>T]G 9 10 11 12 13 14 15 16 23 8 14 4 9 11 3 13 6 4 5 15 11 10 7 11 10 5 10 6 13 10 7 10 9 6 8 4 16 21 80 10 6 6 11 37 14 9 5 10 8 10 6 4 14 11 3 4 11 7 4 8 11 -mutational_signature_counts_C_C_T_T C[C>T]T 12 13 14 15 16 17 18 19 56 3 9 1 2 5 4 3 1 0 5 2 1 1 4 3 5 2 3 1 3 5 2 2 5 3 5 2 4 4 3 2 1 0 2 42 3 3 5 2 4 1 2 5 5 1 0 3 3 0 1 0 6 -mutational_signature_counts_C_T_A_A C[T>A]A 15 16 17 18 19 20 21 22 58 0 2 0 0 0 1 0 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 0 2 0 1 1 0 0 1 0 0 14 0 0 0 0 0 1 0 1 0 0 0 0 0 0 0 0 0 -mutational_signature_counts_C_T_A_C C[T>A]C 16 17 18 19 20 21 22 23 0 1 3 2 0 2 0 0 0 0 0 1 0 1 1 2 1 1 1 0 0 0 0 0 2 0 0 0 1 3 0 2 0 0 4 23 0 0 0 1 0 2 0 0 0 0 1 1 1 1 0 3 0 -mutational_signature_counts_C_T_A_G C[T>A]G 17 18 19 20 21 22 23 24 0 4 6 1 1 1 0 1 2 0 2 1 0 0 2 2 2 1 0 1 0 0 0 5 1 1 2 4 5 2 2 1 1 0 1 58 1 2 1 1 0 0 0 1 1 2 0 3 1 1 1 0 1 -mutational_signature_counts_C_T_A_T C[T>A]T 19 20 21 22 23 24 25 26 0 0 2 0 0 0 1 1 0 0 0 1 0 1 1 0 0 1 0 0 0 0 1 0 1 0 0 2 1 0 1 3 0 0 1 22 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 1 0 -mutational_signature_counts_C_T_C_A C[T>C]A 9 10 11 12 13 14 15 16 0 1 4 2 1 0 3 1 0 1 1 3 1 1 2 0 0 0 1 0 1 0 0 2 1 1 1 0 2 2 3 0 1 0 2 11 1 5 1 0 0 1 0 0 0 1 0 2 0 0 0 1 1 -mutational_signature_counts_C_T_C_C C[T>C]C 22 23 24 25 26 27 28 29 0 1 1 0 0 1 3 0 1 2 2 1 2 1 1 2 0 1 1 0 0 1 1 0 4 0 0 1 5 2 0 2 1 0 1 3 2 0 0 0 1 0 0 1 1 1 0 0 2 2 1 1 1 -mutational_signature_counts_C_T_C_G C[T>C]G 33 34 35 36 37 38 39 40 0 3 9 7 1 8 4 8 1 6 6 6 6 7 6 2 4 2 9 1 9 1 6 4 5 7 10 3 11 13 5 6 8 7 5 21 7 5 2 4 2 6 4 4 2 3 4 2 9 8 5 3 2 -mutational_signature_counts_C_T_C_T C[T>C]T 3 4 5 6 7 8 9 10 0 1 8 0 1 1 3 0 3 0 4 4 1 3 4 1 2 1 5 0 3 0 2 3 1 1 1 2 5 4 3 5 3 1 2 9 1 1 5 1 4 0 1 2 0 1 0 1 4 0 1 0 1 -mutational_signature_counts_C_T_G_A C[T>G]A 7 8 9 10 11 12 13 14 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 -mutational_signature_counts_C_T_G_C C[T>G]C 9 10 11 12 13 14 15 16 0 0 2 0 1 2 2 1 2 0 3 0 1 2 0 1 0 1 2 0 2 1 0 0 2 3 1 5 1 2 1 1 1 4 3 4 1 0 2 1 1 1 2 2 0 1 3 1 1 0 1 0 0 -mutational_signature_counts_C_T_G_G C[T>G]G 6 7 8 9 10 11 12 13 0 1 1 0 2 0 1 3 0 0 0 2 1 0 2 2 1 0 3 0 2 0 2 0 4 1 1 0 2 2 1 4 1 1 4 14 1 2 0 2 0 0 0 0 1 3 0 2 2 1 0 0 1 -mutational_signature_counts_C_T_G_T C[T>G]T 5 6 7 8 9 10 11 12 0 0 0 0 0 0 0 0 0 0 2 0 0 1 1 2 0 1 1 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 2 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 -mutational_signature_counts_G_C_A_A G[C>A]A 4 5 6 7 8 9 10 11 0 85 8 1 2 8 2 2 1 3 1 0 1 2 4 5 1 0 7 2 2 0 3 3 1 1 4 3 3 1 2 3 2 4 3 76 1 0 1 0 0 3 4 2 0 4 2 1 5 0 2 1 2 -mutational_signature_counts_G_C_A_C G[C>A]C 3 4 5 6 7 8 9 10 12 18 8 1 2 6 3 2 1 1 0 3 0 0 5 1 1 2 3 3 3 4 5 3 4 1 4 1 3 2 2 2 4 3 3 91 4 3 1 3 0 1 7 2 0 3 0 4 6 2 4 5 4 -mutational_signature_counts_G_C_A_G G[C>A]G 2 3 4 5 6 7 8 9 13 11 14 1 0 2 5 2 3 1 3 0 4 4 3 5 2 3 1 5 2 2 3 2 1 2 3 0 3 4 0 1 6 3 3 69 2 5 1 3 0 1 3 0 0 6 2 1 1 1 1 5 0 -mutational_signature_counts_G_C_A_T G[C>A]T 4 5 6 7 8 9 10 11 14 59 5 1 2 1 1 3 1 0 0 1 0 4 2 1 1 0 1 2 0 1 5 3 4 0 0 2 2 3 1 2 1 1 3 57 6 2 3 0 0 2 2 2 0 1 2 3 3 2 0 4 1 -mutational_signature_counts_G_C_G_A G[C>G]A 6 7 8 9 10 11 12 13 1 2 3 2 0 1 3 1 1 1 1 2 3 3 2 1 3 0 1 0 0 0 4 1 2 1 1 1 1 2 0 0 2 0 3 15 2 2 4 1 0 2 2 2 0 5 1 1 2 3 1 0 3 -mutational_signature_counts_G_C_G_C G[C>G]C 8 9 10 11 12 13 14 15 5 3 1 1 1 0 2 4 1 0 0 0 1 5 2 1 0 1 0 0 0 1 1 0 0 2 1 2 2 1 0 1 1 0 5 27 1 0 1 2 3 1 0 0 2 4 1 0 4 2 0 1 1 -mutational_signature_counts_G_C_G_G G[C>G]G 10 41 12 13 14 15 16 17 3 1 3 0 2 2 1 4 1 1 0 2 4 1 1 0 1 1 0 1 3 0 0 0 1 3 1 2 2 1 1 3 2 0 2 25 1 0 2 0 2 1 4 1 1 2 1 0 2 2 0 2 3 -mutational_signature_counts_G_C_G_T G[C>G]T 13 44 15 16 17 18 19 20 6 1 1 0 2 4 4 0 4 3 3 1 1 3 4 3 2 0 5 0 1 2 1 1 2 1 5 2 2 4 1 5 7 0 5 15 2 2 0 4 2 1 1 2 2 1 1 0 4 1 2 2 0 -mutational_signature_counts_G_C_T_A G[C>T]A 16 43 18 19 20 21 22 23 8 1 3 2 4 2 0 3 1 0 2 0 1 2 0 1 1 1 1 1 0 1 4 3 3 1 3 3 3 4 6 2 1 2 3 14 2 3 2 3 2 1 1 1 2 4 0 0 4 2 0 3 0 -mutational_signature_counts_G_C_T_C G[C>T]C 17 48 19 20 21 22 23 24 7 2 3 2 2 1 3 3 0 3 2 1 3 3 4 5 3 2 3 0 2 2 2 1 5 3 1 3 3 5 8 2 3 2 5 19 3 5 3 1 1 2 3 5 3 2 3 3 5 0 0 5 2 -mutational_signature_counts_G_C_T_G G[C>T]G 18 49 20 21 22 23 24 25 1 10 7 6 3 5 7 7 3 3 7 4 5 10 8 10 6 4 12 2 10 7 5 8 10 7 10 5 9 20 82 6 15 5 14 21 10 8 10 9 5 10 9 5 11 6 4 5 13 8 4 7 7 -mutational_signature_counts_G_C_T_T G[C>T]T 20 41 22 23 24 25 26 27 2 5 8 4 1 2 5 1 3 1 4 3 4 0 2 4 0 4 9 6 4 0 2 4 0 6 5 2 6 3 4 9 5 0 6 24 2 2 3 2 4 2 3 2 0 2 3 1 6 5 1 7 5 -mutational_signature_counts_G_T_A_A G[T>A]A 10 41 12 13 14 15 16 17 3 0 1 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 9 0 0 0 0 0 0 0 0 2 0 1 0 1 0 0 0 0 -mutational_signature_counts_G_T_A_C G[T>A]C 23 44 25 26 27 28 29 30 4 0 3 0 0 1 2 0 0 0 2 0 0 0 2 2 1 1 1 0 1 0 0 0 1 0 1 0 0 0 0 1 0 0 0 5 1 1 1 0 0 0 1 0 0 0 0 2 2 0 0 0 0 -mutational_signature_counts_G_T_A_G G[T>A]G 34 45 36 37 38 39 40 41 23 0 4 0 0 1 1 1 0 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 2 0 0 1 1 2 0 1 2 1 1 18 0 0 0 0 1 0 0 1 0 0 0 1 0 0 0 1 1 -mutational_signature_counts_G_T_A_T G[T>A]T 4 5 6 7 8 9 10 11 24 0 0 0 0 0 1 0 0 2 0 1 1 0 0 1 0 0 1 1 0 0 0 0 0 0 1 0 0 0 0 1 0 0 0 10 2 1 0 2 1 1 0 0 0 0 1 0 0 1 0 0 0 -mutational_signature_counts_G_T_C_A G[T>C]A 8 9 10 11 12 13 14 15 25 1 4 1 0 1 0 2 1 1 0 1 1 2 1 2 0 0 4 0 0 0 1 2 1 0 1 0 0 1 6 2 0 1 6 7 1 0 0 0 0 3 1 1 1 1 1 1 1 0 0 1 1 -mutational_signature_counts_G_T_C_C G[T>C]C 10 11 12 13 14 15 16 17 26 1 3 3 0 1 2 1 0 0 5 0 1 2 4 2 1 1 3 1 4 2 1 0 0 1 4 1 4 6 6 6 2 2 10 6 1 3 0 1 1 2 2 1 1 2 1 2 3 1 1 2 0 -mutational_signature_counts_G_T_C_G G[T>C]G 7 8 9 10 11 12 13 14 27 2 4 2 3 4 3 9 6 1 4 2 4 8 4 5 2 2 5 1 6 1 4 0 2 5 9 7 3 13 3 6 10 2 11 13 6 6 2 6 2 1 7 2 2 6 4 1 3 3 4 5 2 -mutational_signature_counts_G_T_C_T G[T>C]T 6 7 8 9 10 11 12 13 1 1 0 1 0 2 2 2 1 1 1 1 1 1 1 2 2 1 5 1 0 2 1 2 3 2 1 2 4 2 5 3 1 1 3 10 0 0 1 1 1 1 3 2 0 1 2 3 2 0 0 2 0 -mutational_signature_counts_G_T_G_A G[T>G]A 5 6 7 8 9 10 11 12 1 0 2 0 0 0 2 1 1 0 1 0 0 0 0 1 1 0 1 0 3 0 2 0 0 0 0 1 0 0 0 0 0 2 1 1 0 1 0 0 0 1 1 0 1 0 0 0 0 0 0 0 0 -mutational_signature_counts_G_T_G_C G[T>G]C 4 15 6 7 8 9 10 11 13 1 1 2 0 3 0 2 0 0 0 0 1 0 1 1 0 1 2 0 1 0 0 0 0 0 1 1 1 1 1 1 2 0 3 1 0 0 0 0 2 0 0 1 0 0 0 0 0 0 0 1 0 -mutational_signature_counts_G_T_G_G G[T>G]G 3 14 5 6 7 8 9 10 14 0 0 0 1 1 4 3 4 0 0 2 0 2 2 3 1 1 2 0 3 2 3 1 1 2 0 1 3 6 4 1 0 0 2 4 2 1 3 2 1 1 3 2 2 1 3 0 1 1 0 1 2 -mutational_signature_counts_G_T_G_T G[T>G]T 5 6 7 8 9 10 11 12 15 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 1 0 1 0 1 0 4 0 2 1 1 0 1 0 0 0 1 0 0 1 0 0 1 0 -mutational_signature_counts_T_C_A_A T[C>A]A 7 8 9 10 11 12 13 14 2 123 7 0 0 1 2 1 0 0 1 0 0 2 1 3 1 0 2 0 2 0 1 0 3 0 2 0 1 1 0 2 3 1 6 63 1 0 2 0 2 1 2 0 0 1 2 2 2 0 2 0 1 -mutational_signature_counts_T_C_A_C T[C>A]C 9 10 11 12 13 14 15 16 6 67 14 1 1 3 0 0 2 0 0 0 0 1 0 3 1 0 0 1 0 0 1 0 2 0 3 1 2 1 1 5 2 0 4 124 1 3 0 0 0 0 0 1 0 1 0 0 7 0 2 0 0 -mutational_signature_counts_T_C_A_G T[C>A]G 11 12 13 14 15 16 17 18 4 19 5 1 0 1 0 0 0 0 0 0 0 2 1 1 1 0 0 0 0 0 0 0 0 0 1 0 2 2 0 1 0 1 0 45 2 1 0 1 0 2 0 2 0 0 2 0 2 0 1 0 0 -mutational_signature_counts_T_C_A_T T[C>A]T 14 15 16 17 18 19 20 21 7 125 7 1 1 0 3 0 1 0 0 1 0 1 0 2 0 0 0 0 2 3 0 1 1 0 0 0 1 0 2 4 0 0 4 70 1 1 0 0 0 0 0 1 1 1 2 0 4 0 1 1 1 -mutational_signature_counts_T_C_G_A T[C>G]A 17 18 19 20 21 22 23 24 9 3 15 2 0 5 1 2 0 0 1 3 0 2 1 3 2 1 0 0 0 0 1 2 5 1 0 0 1 0 1 2 3 2 2 41 0 1 0 1 0 1 0 2 1 2 0 0 11 0 0 1 0 -mutational_signature_counts_T_C_G_C T[C>G]C 18 19 20 21 22 23 24 25 8 1 4 2 0 2 3 4 0 1 0 1 1 1 2 3 0 3 2 2 2 0 0 1 2 0 1 0 1 2 1 2 2 0 6 35 2 2 1 1 0 4 2 0 1 0 4 1 2 0 3 3 4 -mutational_signature_counts_T_C_G_G T[C>G]G 19 20 21 22 23 24 25 26 2 0 2 0 0 1 0 2 0 0 1 0 1 0 0 0 1 1 0 0 0 0 1 0 0 0 1 0 1 1 0 1 3 0 0 21 0 0 2 0 0 0 0 1 0 1 0 0 1 1 0 1 0 -mutational_signature_counts_T_C_G_T T[C>G]T 21 22 23 24 25 26 27 28 3 2 18 2 1 0 5 2 0 1 1 3 1 2 0 4 0 0 1 3 0 0 1 3 4 0 3 1 6 3 1 9 0 2 9 38 1 1 1 1 0 0 2 0 4 2 2 2 5 1 1 0 2 -mutational_signature_counts_T_C_T_A T[C>T]A 11 12 13 14 15 16 17 18 4 5 27 2 0 2 3 2 0 1 1 1 2 2 1 1 1 1 6 0 1 0 1 3 3 0 2 2 0 2 0 2 3 0 6 45 5 1 0 3 4 0 0 2 2 1 1 1 4 1 4 0 0 -mutational_signature_counts_T_C_T_C T[C>T]C 24 25 26 27 28 29 30 31 5 2 10 2 2 4 7 3 1 2 1 0 1 3 2 2 1 3 4 3 1 1 0 5 8 1 3 1 5 2 3 2 2 2 6 34 4 3 2 3 3 3 1 1 2 4 2 3 5 0 1 2 0 -mutational_signature_counts_T_C_T_G T[C>T]G 35 36 37 38 39 40 41 42 24 2 8 2 4 2 4 5 1 2 4 1 1 4 2 3 4 4 9 3 1 1 3 6 4 4 4 2 3 6 38 6 2 2 6 15 4 7 5 2 0 4 2 3 1 2 1 3 4 2 2 8 4 -mutational_signature_counts_T_C_T_T T[C>T]T 5 6 7 8 9 10 11 12 25 3 14 2 0 0 2 0 1 0 2 2 2 8 0 3 1 1 1 2 0 0 0 2 3 1 2 0 4 3 3 6 1 0 12 31 4 3 2 2 0 1 1 0 3 4 2 0 2 0 1 1 0 -mutational_signature_counts_T_T_A_A T[T>A]A 9 10 11 12 13 14 15 16 26 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 0 0 0 0 2 2 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 -mutational_signature_counts_T_T_A_C T[T>A]C 11 12 13 14 15 16 17 18 27 0 0 0 1 0 1 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 1 1 0 0 2 0 0 0 0 2 0 0 0 8 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 -mutational_signature_counts_T_T_A_G T[T>A]G 8 9 10 11 12 13 14 15 28 0 2 0 0 0 1 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0 0 1 10 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 -mutational_signature_counts_T_T_A_T T[T>A]T 7 8 9 10 11 12 13 14 2 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 0 1 5 0 0 0 0 0 0 2 0 0 0 0 0 3 0 0 0 0 -mutational_signature_counts_T_T_C_A T[T>C]A 6 7 8 9 10 11 12 13 2 0 1 0 1 1 0 2 0 0 1 0 1 1 1 0 1 0 2 0 1 0 0 0 0 1 1 1 1 1 3 1 1 0 1 3 2 1 0 2 0 0 0 1 0 1 2 0 1 0 0 2 2 -mutational_signature_counts_T_T_C_C T[T>C]C 5 6 7 8 9 10 11 12 14 0 0 0 0 1 3 0 0 1 2 0 1 2 0 4 1 0 2 2 2 2 0 0 2 1 0 3 1 1 3 2 2 1 3 3 0 1 1 1 0 1 0 2 2 3 2 1 0 2 1 3 1 -mutational_signature_counts_T_T_C_G T[T>C]G 4 5 6 7 8 9 10 11 15 1 2 2 2 2 2 4 0 1 3 1 1 4 1 2 0 1 7 3 1 1 0 2 2 2 3 2 2 4 5 2 0 1 3 5 0 3 4 2 2 1 3 1 2 3 1 2 4 0 4 1 0 -mutational_signature_counts_T_T_C_T T[T>C]T 6 7 8 9 10 11 12 13 16 1 2 2 2 1 0 1 0 0 2 0 3 2 0 0 1 3 1 1 2 1 0 0 0 1 1 1 1 1 2 4 1 1 1 6 2 1 2 1 1 0 1 0 0 1 0 1 0 1 1 2 1 -mutational_signature_counts_T_T_G_A T[T>G]A 8 9 10 11 12 13 14 15 3 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 -mutational_signature_counts_T_T_G_C T[T>G]C 10 11 12 13 14 15 16 17 7 0 1 0 0 1 1 0 0 1 0 1 0 0 0 1 0 1 1 0 0 0 0 0 0 1 0 0 2 1 0 0 0 1 0 3 1 1 0 0 0 1 0 0 0 1 0 0 1 2 0 1 0 -mutational_signature_counts_T_T_G_G T[T>G]G 12 13 14 15 16 17 18 19 5 0 0 0 1 0 0 2 0 0 0 0 0 1 0 1 0 0 0 2 0 0 2 0 1 0 0 1 3 0 0 0 0 0 2 6 1 0 0 0 0 0 0 0 2 0 1 0 1 0 0 0 0 -mutational_signature_counts_T_T_G_T T[T>G]T 15 16 17 18 19 20 21 22 8 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 1 2 0 1 1 1 0 1 1 1 0 0 0 0 1 0 0 0 0 0 0 0 0 diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_pvalue_DBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_pvalue_DBS.txt deleted file mode 100644 index c315d3040ee..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_pvalue_DBS.txt +++ /dev/null @@ -1,12 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION URL P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A P17_Pri_B P17_Pri_C P17_Rec1_A P17_Rec1_B P17_Rec1_C P17_Rec1_D P18_Pri_A P18_Pri_B P18_Pri_C P18_Pri_D P18_Rec P21_Pri P21_Rec P24_Pri P24_Rec1 P24_Rec2 P25_Pri P25_Rec P26_Pri_A P26_Pri_B P26_Rec1_A P26_Rec1_B P27_Pri_A P27_Pri_B P27_Rec1_A P27_Rec1_B P28_Pri P28_Rec P29_Pri P29_Rec -mutational_signature_pvalue_DBS1 DBS1 (UV) Exposure to ultraviolet light https://cancer.sanger.ac.uk/signatures/dbs/dbs1 0.003 0.013 0.0 0.0 0.0 0.0 0.045 0.002 0.0 0.0 0.019 0.001 0.017 0.002 0.0 0.0 0.026 0.023 0.0 0.137 0.016 0.005 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.01 0.0 0.002 0.0 0.0 0.0 0.0 0.273 0.005 0.031 0.069 0.0 0.001 0.002 0.01 0.001 0.256 0.0 0.0 0.001 0.003 0.0 0.0 0.0 0.004 0.0 0.0 0.0 0.001 0.0 0.0 -mutational_signature_pvalue_DBS2 DBS2 (Smoking) Exposure to tobacco smoking as well as other endogenous and/or exogenous mutagens (e.g. https://cancer.sanger.ac.uk/signatures/dbs/dbs2 0.973 0.476 0.161 0.18 0.879 0.712 0.715 0.875 0.788 0.584 0.641 0.367 0.033 0.309 0.204 0.015 0.485 0.265 0.106 0.201 0.708 0.932 0.913 0.931 0.659 0.721 0.842 0.313 0.984 0.793 0.706 0.506 0.459 0.766 0.48 0.999 0.71 0.005 0.271 0.022 0.012 0.411 0.177 0.001 0.633 0.915 0.304 0.996 0.629 0.951 0.672 0.592 0.145 0.015 0.058 0.067 0.071 0.831 0.418 0.301 0.474 -mutational_signature_pvalue_DBS3 DBS3 (POLE) Polymerase epsilon exonuclease domain mutations https://cancer.sanger.ac.uk/signatures/dbs/dbs3 0.186 0.939 0.411 0.981 0.684 0.368 0.689 0.246 0.303 0.959 0.973 0.955 0.688 0.703 0.102 0.075 0.176 0.158 0.722 0.301 0.951 0.982 0.072 0.562 0.552 0.21 0.951 0.855 0.893 0.722 0.915 0.91 0.896 0.53 0.988 0.763 0.847 0.936 0.452 0.884 0.962 0.958 0.8 0.276 0.122 0.773 0.098 0.474 0.389 0.805 0.888 0.948 0.328 0.381 0.126 0.053 0.141 0.904 0.386 0.37 0.117 -mutational_signature_pvalue_DBS4 DBS4 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/signatures/dbs/dbs4 0.355 0.824 0.617 0.684 0.516 0.981 0.661 0.993 0.482 0.792 0.424 0.21 0.568 0.912 0.963 0.316 0.478 0.647 0.566 0.254 0.688 0.315 0.911 0.927 0.919 0.748 0.765 0.798 0.913 0.857 0.559 0.529 0.899 0.481 0.243 0.378 0.927 0.893 0.443 0.975 0.864 0.536 0.999 0.357 0.409 0.299 0.562 0.846 0.268 0.901 0.931 0.986 0.846 0.688 0.623 0.82 0.511 0.883 0.54 0.984 0.527 -mutational_signature_pvalue_DBS5 DBS5 (Platinum) Prior chemotherapy treatment with platinum drugs https://cancer.sanger.ac.uk/signatures/dbs/dbs5 0.692 0.646 0.376 0.486 0.063 0.244 0.164 0.3 0.344 0.751 0.598 0.04 0.877 0.693 0.299 0.091 0.959 0.669 0.567 0.131 0.643 0.471 0.934 0.416 0.365 0.126 0.922 0.614 0.943 0.473 0.637 0.821 0.44 0.113 0.706 0.236 0.088 0.765 0.372 0.625 0.524 0.957 0.941 0.313 0.4 0.339 0.205 0.705 0.657 0.948 0.525 0.819 0.3 0.097 0.09 0.826 0.238 0.572 0.982 0.342 0.164 -mutational_signature_pvalue_DBS6 DBS6 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/signatures/dbs/dbs6 0.355 0.0 0.456 0.638 0.273 0.454 0.0 0.313 0.097 0.0 0.391 0.348 0.698 0.396 0.36 0.296 0.546 0.282 0.509 0.0 0.39 0.005 0.304 0.329 0.03 0.878 0.246 0.426 0.567 0.528 0.717 0.713 0.246 0.269 0.677 0.465 0.432 0.007 0.651 0.008 0.273 0.0 0.599 0.254 0.721 0.387 0.0 0.356 0.302 0.003 0.001 0.015 0.027 0.296 0.279 0.324 0.287 0.166 0.274 0.413 0.256 -mutational_signature_pvalue_DBS7 DBS7 (MMR) Defective DNA mismatch repair (MMR) https://cancer.sanger.ac.uk/signatures/dbs/dbs7 0.109 0.0 0.586 0.775 0.491 0.669 0.792 0.463 0.978 0.0 0.484 0.133 0.485 0.143 0.368 0.711 0.808 0.022 0.531 0.0 0.435 0.36 0.214 0.953 0.528 0.316 0.938 0.094 0.73 0.993 0.961 0.405 0.477 0.127 0.224 0.128 0.206 0.256 0.732 0.705 0.979 0.0 0.467 0.264 0.84 0.515 0.0 0.014 0.043 0.837 0.998 0.723 0.367 0.478 0.531 0.747 0.744 0.704 0.401 0.063 0.111 -mutational_signature_pvalue_DBS8 DBS8 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/dbs/dbs8 0.628 0.341 0.634 0.391 0.199 0.361 0.19 0.804 0.323 0.0 0.37 0.179 0.682 0.236 0.24 0.545 0.779 0.471 0.682 0.085 0.164 0.291 0.019 0.353 0.937 0.757 0.266 0.132 0.528 0.426 0.682 0.62 0.684 0.214 0.027 0.227 0.024 0.99 0.501 0.978 0.855 0.0 0.905 0.0 0.9 0.57 0.0 0.296 0.315 0.931 0.939 0.817 0.375 0.055 0.011 0.247 0.018 0.988 0.273 0.267 0.117 -mutational_signature_pvalue_DBS9 DBS9 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/signatures/dbs/dbs9 0.334 0.935 0.087 0.796 0.656 0.632 0.317 0.784 0.772 0.862 0.226 0.963 0.588 0.568 0.7 0.349 0.344 0.221 0.131 0.426 0.946 0.948 0.685 0.834 0.754 0.887 0.569 0.833 0.604 0.527 0.564 0.582 0.65 0.482 0.735 0.988 0.341 0.112 0.19 0.163 0.133 0.434 0.463 0.525 0.618 0.478 0.65 0.625 0.219 0.18 0.243 0.227 0.475 0.89 0.297 0.951 0.6 0.64 0.39 0.651 0.749 -mutational_signature_pvalue_DBS10 DBS10 (MMR) Defective DNA mismatch repair (MMR) https://cancer.sanger.ac.uk/signatures/dbs/dbs10 0.828 0.067 0.552 0.806 0.31 0.17 0.815 0.413 0.979 0.808 0.354 0.088 0.128 0.138 0.395 0.323 0.679 0.499 0.035 0.419 0.683 0.804 0.137 0.541 0.778 0.732 0.92 0.966 0.839 0.694 0.595 0.264 0.587 0.08 0.151 0.056 0.148 0.333 0.365 0.31 0.321 0.749 0.737 0.846 0.994 0.719 0.53 0.211 0.521 0.87 0.973 0.789 0.418 0.176 0.044 0.067 0.071 0.582 0.741 0.183 0.565 -mutational_signature_pvalue_DBS11 DBS11 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/dbs/dbs11 0.63 0.442 0.26 0.478 0.663 0.209 0.662 0.338 0.356 0.668 0.517 0.658 0.204 0.927 0.824 0.888 0.85 0.143 0.874 0.088 0.584 0.864 0.307 0.916 0.808 0.474 0.794 0.689 0.931 0.996 0.727 0.701 0.951 0.902 0.666 0.609 0.893 0.407 0.444 0.466 0.763 0.452 0.192 0.339 0.354 0.664 0.614 0.287 0.551 0.297 0.832 0.899 0.774 0.701 0.538 0.64 0.778 0.67 0.71 0.465 0.934 diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_pvalue_ID.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_pvalue_ID.txt deleted file mode 100644 index b4c4e016cbd..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_pvalue_ID.txt +++ /dev/null @@ -1,11 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION URL P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A P17_Pri_B P17_Pri_C P17_Rec1_A P17_Rec1_B P17_Rec1_C P17_Rec1_D P18_Pri_A P18_Pri_B P18_Pri_C P18_Pri_D P18_Rec P21_Pri P21_Rec P24_Pri P24_Rec1 P24_Rec2 P25_Pri P25_Rec P26_Pri_A P26_Pri_B P26_Rec1_A P26_Rec1_B P27_Pri_A P27_Pri_B P27_Rec1_A P27_Rec1_B P28_Pri P28_Rec P29_Pri P29_Rec -mutational_signature_contribution_ID1 ID1 (Slippage) Slippage during DNA replication of the replicated DNA strand https://cancer.sanger.ac.uk/signatures/id/id1 0.003 0.013 0.0 0.0 0.0 0.0 0.045 0.002 0.0 0.0 0.019 0.001 0.017 0.002 0.0 0.0 0.026 0.023 0.0 0.137 0.016 0.005 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.01 0.0 0.002 0.0 0.0 0.0 0.0 0.273 0.005 0.031 0.069 0.0 0.001 0.002 0.01 0.001 0.256 0.0 0.0 0.001 0.003 0.0 0.0 0.0 0.004 0.0 0.0 0.0 0.001 0.0 0.0 -mutational_signature_contribution_ID2 ID2 (Slippage) Slippage during DNA replication of the template DNA strand https://cancer.sanger.ac.uk/signatures/id/id2 0.973 0.476 0.161 0.18 0.879 0.712 0.715 0.875 0.788 0.584 0.641 0.367 0.033 0.309 0.204 0.015 0.485 0.265 0.106 0.201 0.708 0.932 0.913 0.931 0.659 0.721 0.842 0.313 0.984 0.793 0.706 0.506 0.459 0.766 0.48 0.999 0.71 0.005 0.271 0.022 0.012 0.411 0.177 0.001 0.633 0.915 0.304 0.996 0.629 0.951 0.672 0.592 0.145 0.015 0.058 0.067 0.071 0.831 0.418 0.301 0.474 -mutational_signature_contribution_ID3 ID3 (Smoking) Associated with tobacco smoking https://cancer.sanger.ac.uk/signatures/id/id3 0.186 0.939 0.411 0.981 0.684 0.368 0.689 0.246 0.303 0.959 0.973 0.955 0.688 0.703 0.102 0.075 0.176 0.158 0.722 0.301 0.951 0.982 0.072 0.562 0.552 0.21 0.951 0.855 0.893 0.722 0.915 0.91 0.896 0.53 0.988 0.763 0.847 0.936 0.452 0.884 0.962 0.958 0.8 0.276 0.122 0.773 0.098 0.474 0.389 0.805 0.888 0.948 0.328 0.381 0.126 0.053 0.141 0.904 0.386 0.37 0.117 -mutational_signature_contribution_ID4 ID4 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/id/id4 0.355 0.824 0.617 0.684 0.516 0.981 0.661 0.993 0.482 0.792 0.424 0.21 0.568 0.912 0.963 0.316 0.478 0.647 0.566 0.254 0.688 0.315 0.911 0.927 0.919 0.748 0.765 0.798 0.913 0.857 0.559 0.529 0.899 0.481 0.243 0.378 0.927 0.893 0.443 0.975 0.864 0.536 0.999 0.357 0.409 0.299 0.562 0.846 0.268 0.901 0.931 0.986 0.846 0.688 0.623 0.82 0.511 0.883 0.54 0.984 0.527 -mutational_signature_contribution_ID5 ID5 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/id/id5 0.692 0.646 0.376 0.486 0.063 0.244 0.164 0.3 0.344 0.751 0.598 0.04 0.877 0.693 0.299 0.091 0.959 0.669 0.567 0.131 0.643 0.471 0.934 0.416 0.365 0.126 0.922 0.614 0.943 0.473 0.637 0.821 0.44 0.113 0.706 0.236 0.088 0.765 0.372 0.625 0.524 0.957 0.941 0.313 0.4 0.339 0.205 0.705 0.657 0.948 0.525 0.819 0.3 0.097 0.09 0.826 0.238 0.572 0.982 0.342 0.164 -mutational_signature_contribution_ID6 ID6 (HRD) homologous recombination-based DNA damage repair defects (HRD) https://cancer.sanger.ac.uk/signatures/id/id6 0.355 0.0 0.456 0.638 0.273 0.454 0.0 0.313 0.097 0.0 0.391 0.348 0.698 0.396 0.36 0.296 0.546 0.282 0.509 0.0 0.39 0.005 0.304 0.329 0.03 0.878 0.246 0.426 0.567 0.528 0.717 0.713 0.246 0.269 0.677 0.465 0.432 0.007 0.651 0.008 0.273 0.0 0.599 0.254 0.721 0.387 0.0 0.356 0.302 0.003 0.001 0.015 0.027 0.296 0.279 0.324 0.287 0.166 0.274 0.413 0.256 -mutational_signature_contribution_ID7 ID7 (MMR) Defective DNA mismatch repair https://cancer.sanger.ac.uk/signatures/id/id7 0.109 0.0 0.586 0.775 0.491 0.669 0.792 0.463 0.978 0.0 0.484 0.133 0.485 0.143 0.368 0.711 0.808 0.022 0.531 0.0 0.435 0.36 0.214 0.953 0.528 0.316 0.938 0.094 0.73 0.993 0.961 0.405 0.477 0.127 0.224 0.128 0.206 0.256 0.732 0.705 0.979 0.0 0.467 0.264 0.84 0.515 0.0 0.014 0.043 0.837 0.998 0.723 0.367 0.478 0.531 0.747 0.744 0.704 0.401 0.063 0.111 -mutational_signature_contribution_ID8 ID8 (Unknown) Appears to be caused by at least two underlying mechanisms: the features of ID8 mutations have some similarities to those of radiation induced mutations and the small number of tumors with the somatic p.K743N mutation have a form of ID8 that shows evidence of transcription-associated damage https://cancer.sanger.ac.uk/signatures/id/id8 0.628 0.341 0.634 0.391 0.199 0.361 0.19 0.804 0.323 0.0 0.37 0.179 0.682 0.236 0.24 0.545 0.779 0.471 0.682 0.085 0.164 0.291 0.019 0.353 0.937 0.757 0.266 0.132 0.528 0.426 0.682 0.62 0.684 0.214 0.027 0.227 0.024 0.99 0.501 0.978 0.855 0.0 0.905 0.0 0.9 0.57 0.0 0.296 0.315 0.931 0.939 0.817 0.375 0.055 0.011 0.247 0.018 0.988 0.273 0.267 0.117 -mutational_signature_contribution_ID9 ID9 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/id/id9 0.334 0.935 0.087 0.796 0.656 0.632 0.317 0.784 0.772 0.862 0.226 0.963 0.588 0.568 0.7 0.349 0.344 0.221 0.131 0.426 0.946 0.948 0.685 0.834 0.754 0.887 0.569 0.833 0.604 0.527 0.564 0.582 0.65 0.482 0.735 0.988 0.341 0.112 0.19 0.163 0.133 0.434 0.463 0.525 0.618 0.478 0.65 0.625 0.219 0.18 0.243 0.227 0.475 0.89 0.297 0.951 0.6 0.64 0.39 0.651 0.749 -mutational_signature_contribution_ID10 ID10 (Unknown) Unknown https://cancer.sanger.ac.uk/signatures/id/id10 0.828 0.067 0.552 0.806 0.31 0.17 0.815 0.413 0.979 0.808 0.354 0.088 0.128 0.138 0.395 0.323 0.679 0.499 0.035 0.419 0.683 0.804 0.137 0.541 0.778 0.732 0.92 0.966 0.839 0.694 0.595 0.264 0.587 0.08 0.151 0.056 0.148 0.333 0.365 0.31 0.321 0.749 0.737 0.846 0.994 0.719 0.53 0.211 0.521 0.87 0.973 0.789 0.418 0.176 0.044 0.067 0.071 0.582 0.741 0.183 0.565 diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_pvalue_SBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_pvalue_SBS.txt deleted file mode 100644 index 0ad6c1bf1c8..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutational_signature_pvalue_SBS.txt +++ /dev/null @@ -1,31 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION URL P01_Pri P01_Rec P02_Pri P02_Rec P04_Pri P04_Rec1 P04_Rec2 P04_Rec3 P05_Pri P05_Rec P06_Pri P06_Rec P07_Pri P07_Rec P08_Pri P08_Rec P09_Pri P09_Rec P10_Pri P10_Rec P11_Pri P11_Rec P12_Pri P12_Rec P13_Pri P13_Rec P15_Pri P15_Rec P16_Pri P16_Rec P17_Pri_A P17_Pri_B P17_Pri_C P17_Rec1_A P17_Rec1_B P17_Rec1_C P17_Rec1_D P18_Pri_A P18_Pri_B P18_Pri_C P18_Pri_D P18_Rec P21_Pri P21_Rec P24_Pri P24_Rec1 P24_Rec2 P25_Pri P25_Rec P26_Pri_A P26_Pri_B P26_Rec1_A P26_Rec1_B P27_Pri_A P27_Pri_B P27_Rec1_A P27_Rec1_B P28_Pri P28_Rec P29_Pri P29_Rec -mutational_signature_contribution_SBS1 SBS1 (Age) Number of mutations corellated with age https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS1.tt 0.003 0.013 0 0 0 0 0.045 0.002 0 0 0.019 0.001 0.017 0.002 0 0 0.026 0.023 0 0.137 0.016 0.005 0 0 0 0 0 0 0 0 0.01 0 0.002 0 0 0 0 0.273 0.005 0.031 0.069 0 0.001 0.002 0.01 0.001 0.256 0 0 0.001 0.003 0 0 0 0.004 0 0 0 0.001 0 0 -mutational_signature_contribution_SBS2 SBS2 (APOBEC) Attributed to activity of AID/APOBEC family of cytidine deaminases https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS2.tt 0.973 0.476 0.161 0.18 0.879 0.712 0.715 0.875 0.788 0.584 0.641 0.367 0.033 0.309 0.204 0.015 0.485 0.265 0.106 0.201 0.708 0.932 0.913 0.931 0.659 0.721 0.842 0.313 0.984 0.793 0.706 0.506 0.459 0.766 0.48 0.999 0.71 0.005 0.271 0.022 0.012 0.411 0.177 0.001 0.633 0.915 0.304 0.996 0.629 0.951 0.672 0.592 0.145 0.015 0.058 0.067 0.071 0.831 0.418 0.301 0.474 -mutational_signature_contribution_SBS3 SBS3 (HRD) Attributed to homologous recombination defects (HRD) in DNA damage response, most often found with germline and somatic BRCA mutations in breast, pancreatic, ovarian cancers, and in pancreatic tumors responsive to platinum therapy https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS3.tt 0.186 0.939 0.411 0.981 0.684 0.368 0.689 0.246 0.303 0.959 0.973 0.955 0.688 0.703 0.102 0.075 0.176 0.158 0.722 0.301 0.951 0.982 0.072 0.562 0.552 0.21 0.951 0.855 0.893 0.722 0.915 0.91 0.896 0.53 0.988 0.763 0.847 0.936 0.452 0.884 0.962 0.958 0.8 0.276 0.122 0.773 0.098 0.474 0.389 0.805 0.888 0.948 0.328 0.381 0.126 0.053 0.141 0.904 0.386 0.37 0.117 -mutational_signature_contribution_SBS4 SBS4 (Smoking) Associated with tobacco smoking likely due to direct DNA damage by tobacco smoke mutagens https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS4.tt 0.355 0.824 0.617 0.684 0.516 0.981 0.661 0.993 0.482 0.792 0.424 0.21 0.568 0.912 0.963 0.316 0.478 0.647 0.566 0.254 0.688 0.315 0.911 0.927 0.919 0.748 0.765 0.798 0.913 0.857 0.559 0.529 0.899 0.481 0.243 0.378 0.927 0.893 0.443 0.975 0.864 0.536 0.999 0.357 0.409 0.299 0.562 0.846 0.268 0.901 0.931 0.986 0.846 0.688 0.623 0.82 0.511 0.883 0.54 0.984 0.527 -mutational_signature_contribution_SBS5 SBS5 (Unknown) Unknown etiology but is clock-like with the number of mutations in most cancers and normal cells correlated with the age https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS5.tt 0.692 0.646 0.376 0.486 0.063 0.244 0.164 0.3 0.344 0.751 0.598 0.04 0.877 0.693 0.299 0.091 0.959 0.669 0.567 0.131 0.643 0.471 0.934 0.416 0.365 0.126 0.922 0.614 0.943 0.473 0.637 0.821 0.44 0.113 0.706 0.236 0.088 0.765 0.372 0.625 0.524 0.957 0.941 0.313 0.4 0.339 0.205 0.705 0.657 0.948 0.525 0.819 0.3 0.097 0.09 0.826 0.238 0.572 0.982 0.342 0.164 -mutational_signature_contribution_SBS6 SBS6 (MMR/MSI) Associated with defective DNA mismatch repair (MMR) and is found in microsatellite unstable (MSI) tumors; one of 7 signatures associated with MMR/MSI along with SBS14, SBS15, SBS20, SBS21, SBS26, and SBS44 https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS6.tt 0.355 0 0.456 0.638 0.273 0.454 0 0.313 0.097 0 0.391 0.348 0.698 0.396 0.36 0.296 0.546 0.282 0.509 0 0.39 0.005 0.304 0.329 0.03 0.878 0.246 0.426 0.567 0.528 0.717 0.713 0.246 0.269 0.677 0.465 0.432 0.007 0.651 0.008 0.273 0 0.599 0.254 0.721 0.387 0 0.356 0.302 0.003 0.001 0.015 0.027 0.296 0.279 0.324 0.287 0.166 0.274 0.413 0.256 -mutational_signature_contribution_SBS7a SBS7a (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7b, SBS7c, and SBS7d) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7a.tt 0.109 0 0.586 0.775 0.491 0.669 0.792 0.463 0.978 0 0.484 0.133 0.485 0.143 0.368 0.711 0.808 0.022 0.531 0 0.435 0.36 0.214 0.953 0.528 0.316 0.938 0.094 0.73 0.993 0.961 0.405 0.477 0.127 0.224 0.128 0.206 0.256 0.732 0.705 0.979 0 0.467 0.264 0.84 0.515 0 0.014 0.043 0.837 0.998 0.723 0.367 0.478 0.531 0.747 0.744 0.704 0.401 0.063 0.111 -mutational_signature_contribution_SBS7b SBS7b (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7a, SBS7c, and SBS7d) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7b.tt 0.628 0.341 0.634 0.391 0.199 0.361 0.19 0.804 0.323 0 0.37 0.179 0.682 0.236 0.24 0.545 0.779 0.471 0.682 0.085 0.164 0.291 0.019 0.353 0.937 0.757 0.266 0.132 0.528 0.426 0.682 0.62 0.684 0.214 0.027 0.227 0.024 0.99 0.501 0.978 0.855 0 0.905 0 0.9 0.57 0 0.296 0.315 0.931 0.939 0.817 0.375 0.055 0.011 0.247 0.018 0.988 0.273 0.267 0.117 -mutational_signature_contribution_SBS7c SBS7c (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7a, SBS7b, and SBS7d) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7c.tt 0.334 0.935 0.087 0.796 0.656 0.632 0.317 0.784 0.772 0.862 0.226 0.963 0.588 0.568 0.7 0.349 0.344 0.221 0.131 0.426 0.946 0.948 0.685 0.834 0.754 0.887 0.569 0.833 0.604 0.527 0.564 0.582 0.65 0.482 0.735 0.988 0.341 0.112 0.19 0.163 0.133 0.434 0.463 0.525 0.618 0.478 0.65 0.625 0.219 0.18 0.243 0.227 0.475 0.89 0.297 0.951 0.6 0.64 0.39 0.651 0.749 -mutational_signature_contribution_SBS7d SBS7d (UV) Attributed to ultraviolet light (UV) exposure and found in cancers of the skin; one of 4 signatures associated with UV exposure (SBS7a, SBS7b, and SBS7c) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS7d.tt 0.828 0.067 0.552 0.806 0.31 0.17 0.815 0.413 0.979 0.808 0.354 0.088 0.128 0.138 0.395 0.323 0.679 0.499 0.035 0.419 0.683 0.804 0.137 0.541 0.778 0.732 0.92 0.966 0.839 0.694 0.595 0.264 0.587 0.08 0.151 0.056 0.148 0.333 0.365 0.31 0.321 0.749 0.737 0.846 0.994 0.719 0.53 0.211 0.521 0.87 0.973 0.789 0.418 0.176 0.044 0.067 0.071 0.582 0.741 0.183 0.565 -mutational_signature_contribution_SBS8 SBS8 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS8.tt 0.63 0.442 0.26 0.478 0.663 0.209 0.662 0.338 0.356 0.668 0.517 0.658 0.204 0.927 0.824 0.888 0.85 0.143 0.874 0.088 0.584 0.864 0.307 0.916 0.808 0.474 0.794 0.689 0.931 0.996 0.727 0.701 0.951 0.902 0.666 0.609 0.893 0.407 0.444 0.466 0.763 0.452 0.192 0.339 0.354 0.664 0.614 0.287 0.551 0.297 0.832 0.899 0.774 0.701 0.538 0.64 0.778 0.67 0.71 0.465 0.934 -mutational_signature_contribution_SBS9 SBS9 (POL-eta) May be due in part to mutations induced during replication by polymerase eta as part of somatic hypermutation in lymphoid cells https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS9.tt 0.143 0.572 0.621 0.828 0.693 0.931 0.956 0.796 0.551 0.421 0.467 0.444 0.937 0.553 0.726 0.94 0.964 0.968 0.833 0.025 0.3 0.166 0.579 0.861 0.857 0.715 0.96 0.293 0.709 0.913 0.125 0.05 0.046 0.749 0.847 0.746 0.358 0.358 0.998 0.39 0.493 0.694 0.987 0.977 0.621 0.807 0.275 0.915 0.853 0.686 0.952 0.721 0.308 0.875 0.383 0.852 0.743 0.905 0.314 0.788 0.69 -mutational_signature_contribution_SBS10a SBS10a (POLE) Attributed to polymerase epsilon exonuclease domain mutations https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS10a.tt 0.626 0.657 0.021 0.035 0.176 0.936 0.109 0.202 0.589 0.823 0.397 0.135 0.996 0.866 0.104 0.851 0.632 0.426 0.74 0.141 0.704 0.371 0.981 0.502 0.828 0.545 0.921 0.18 0.538 0.6 0.858 0.443 0.452 0.361 0.487 0.669 0.576 0.644 0.668 0.912 0.926 0.155 0.995 0.981 0.711 0.825 0.176 0.122 0.03 0.792 0.65 0.985 0.275 0.877 0.355 0.716 0.806 0.758 0.623 0.474 0.71 -mutational_signature_contribution_SBS10b SBS10b (POLE) Attributed to polymerase epsilon exonuclease domain mutations https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS10b.tt 0.701 0.298 0.533 0.109 0.17 0.11 0.025 0.087 0.166 0.806 0.808 0.836 0.063 0.798 0.057 0.513 0.128 0.347 0.267 0.837 0.301 0.707 0.954 0.719 0.275 0.173 0.303 0.314 0.458 0.748 0.507 0.885 0.798 0.349 0.276 0.676 0.269 0.796 0.23 0.358 0.64 0.455 0.324 0.691 0.865 0.279 0.411 0.689 0.152 0.494 0.683 0.997 0.341 0.802 0.555 0.772 0.337 0.733 0.33 0.836 0.641 -mutational_signature_contribution_SBS11 SBS11 (TMZ) Exhibits a mutational pattern resembling that of alkylating agents and associated with patient histories of temozolomide (TMZ) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS11.tt 0.288 0 0.162 0.818 0.704 0.697 0.761 0.953 0.995 0 0.637 0.174 0.971 0.18 0.906 0.352 0.605 0.661 0.68 0 0.503 0.964 0.377 0.634 0.311 0.073 0.912 0.564 0.602 0.147 0.786 0.607 0.696 0.853 0.493 0.879 0.666 0.853 0.437 0.979 0.729 0 0.925 0 0.786 0.764 0 0.664 0.462 0.961 0.586 0.83 0.689 0.569 0.407 0.926 0.303 0.717 0.328 0.558 0.27 -mutational_signature_contribution_SBS12 SBS12 (Unknown) Etiology unknown https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS12.tt 0.818 0.328 0.942 0.577 0.832 0.268 0.528 0.431 0.844 0.774 0.321 0.136 0.505 0.117 0.234 0.745 0.318 0.446 0.133 0.002 0.322 0.29 0.165 0.299 0.29 0.639 0.754 0.437 0.634 0.74 0.767 0.535 0.917 0.227 0.042 0.252 0.001 0.635 0.308 0.496 0.465 0.251 0.954 0.466 0.91 0.058 0.228 0.013 0.466 0.756 0.57 0.498 0.359 0.915 0.424 0.999 0.248 0.133 0.208 0.467 0.562 -mutational_signature_contribution_SBS13 SBS13 (APOBEC) Attributed to activity of the AID/APOBEC family of cytidine deaminases https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS13.tt 0.184 0.274 0.756 0.609 0.503 0.088 0.188 0.834 0.057 0.042 0.385 0.072 0.831 0.018 0.972 0.389 0.788 0.047 0.154 0.108 0.589 0.775 0.099 0.936 0.044 0.213 0.549 0.868 0.576 0.264 0.94 0.441 0.877 0.736 0.902 0.662 0.825 0.634 0.479 0.796 0.841 0.689 0.264 0.083 0.802 0.841 0.837 0.775 0.165 0.604 0.31 0.115 0.348 0.905 0.391 0.549 0.966 0.95 0.436 0.624 0.198 -mutational_signature_contribution_SBS14 SBS14 (MMR/MSI) Associated with concurrent polymerase epsilon mutation, defecticve DNA mismatch repair (MMR), and microsatellite instability (MSI); present in very high numbers in all samples where it has been observed; one of 7 signatures associated with MMR/MSI (SBS6, SBS15, SBS20, SBS21, SBS26, and SBS44) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS14.tt 0.948 0.409 0.344 0.582 0.918 0.31 0.572 0.575 0.45 0.496 0.789 0.906 0.226 0.771 0.698 0.542 0.897 0.906 0.768 0.471 0.613 0.854 0.778 0.84 0.894 0.916 0.15 0.27 0.597 0.663 0.826 0.931 0.374 0.672 0.718 0.967 0.585 0.828 0.62 0.859 0.477 0.198 0.799 0.876 0.746 0.759 0.146 0.477 0.385 0.668 0.504 0.88 0.87 0.855 0.414 0.795 0.955 0.604 0.551 0.499 0.56 -mutational_signature_contribution_SBS15 SBS15 (MMR/MSI) Associated with defecticve DNA mismatch repair (MMR), and microsatellite instability (MSI); one of 7 signatures associated with MMR/MSI (SBS6, SBS14, SBS20, SBS21, SBS26, and SBS44) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS15.tt 0.578 0.17 0.368 0.516 0.441 0.522 0.345 0.354 0.296 0.022 0.183 0.409 0.327 0.19 0.316 0.222 0.502 0.068 0.509 0.009 0.005 0.009 0.327 0.058 0.276 0.165 0.6 0.46 0.822 0.536 0.701 0.355 0.286 0.306 0.631 0.383 0.575 0.193 0.379 0.555 0.913 0.019 0.285 0.223 0.729 0.92 0.056 0.632 0.289 0.807 0.344 0.361 0.102 0.303 0.38 0.283 0.256 0.266 0.195 0.106 0.151 -mutational_signature_contribution_SBS16 SBS16 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS16.tt 0.609 0.45 0.149 0.134 0.072 0.099 0.49 0.136 0.777 0.544 0.844 0.009 0.636 0.218 0.165 0.274 0.083 0.969 0.117 0.125 0.347 0.198 0.201 0.114 0.18 0.081 0.825 0.174 0.645 0.486 0.017 0.051 0.045 0.062 0.141 0.051 0.157 0.042 0.051 0.015 0.032 0.238 0.54 0.601 0.102 0.932 0.302 0.214 0.166 0.34 0.206 0.313 0.391 0.133 0.071 0.193 0.151 0.072 0.259 0.244 0.138 -mutational_signature_contribution_SBS17a SBS17a (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS17a.tt 0.028 0.068 0.51 0.773 0.759 0.235 0.491 0.912 0.181 0.299 0.919 0.15 0.17 0.143 0.167 0.365 0.464 0.494 0.096 0.07 0.081 0.076 0.055 0.544 0.924 0.897 0.665 0.678 0.028 0.049 0.521 0.846 0.924 0.458 0.125 0.391 0.074 0.513 0.906 0.899 0.549 0.057 0.813 0.504 0.63 0.094 0.101 0.439 0.103 0.202 0.152 0.385 0.072 0.566 0.947 0.421 0.903 0.946 0.176 0.814 0.469 -mutational_signature_contribution_SBS17b SBS17b (Unknown) Unknown etiology but has been linked to fluorouracil (5FU) chemotherapy treatment and reactive oxygen species damage https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS17b.tt 0.93 0.406 0.327 0.871 0.915 0.78 0.958 0.769 0.322 0.698 0.732 0.841 0.731 0.861 0.681 0.323 0.427 0.809 0.612 0.221 0.882 0.524 0.794 0.977 0.424 0.562 0.164 0.425 0.833 0.526 0.446 0.973 0.756 0.121 0.108 0.136 0.14 0.8 0.409 0.269 0.916 0.263 0.908 0.83 0.945 0.832 0.263 0.488 0.432 0.847 0.977 0.968 0.529 0.772 0.295 0.191 0.149 0.826 0.485 0.663 0.15 -mutational_signature_contribution_SBS18 SBS18 (ROS) Possibly linked to damage by reactive oxygen species (ROS) https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS18.tt 0.546 0.324 0.431 0.538 0.92 0.53 0.856 0.244 0.653 0.908 0.429 0.062 0.341 0.834 0.678 0.152 0.586 0.775 0.929 0.551 0.677 0.187 0.984 0.897 0.991 0.656 0.681 0.925 0.984 0.7 0.091 0.02 0.029 0.978 0.517 0.298 0.242 0.69 0.395 0.89 0.612 0.348 0.563 0.378 0.86 0.77 0.966 0.447 0.738 0.783 0.986 0.775 0.844 0.574 0.287 0.711 0.828 0.958 0.4 0.733 0.715 -mutational_signature_contribution_SBS19 SBS19 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS19.tt 0.296 0.294 0.386 0.527 0.218 0.97 0.156 0.017 0.029 0 0.545 0.533 0.967 0.433 0.285 0.03 0.553 0.007 0.953 0.083 0.777 0.86 0.811 0.695 0.752 0.426 0.239 0.355 0.505 0.242 0.146 0.606 0.987 0.237 0.166 0.207 0.178 0.602 0.769 0.494 0.666 0.001 0.031 0 0.836 0.413 0.027 0.331 0.481 0.13 0.647 0.418 0.491 0.098 0.168 0.048 0.223 0.717 0.502 0.295 0.259 -mutational_signature_contribution_SBS20 SBS20 (MMR/MSI) Associated with concurrent POLD1 mutations and defective DNA mismatch repair (MMR)/microsatellite instability (MSI); one of 7 MMR/MSI signatures: SBS6, SBS14, SBS15, SBS21, SBS26, and SBS44 https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS20.tt 0.178 0.361 0.703 0.857 0.972 0.903 0.434 0.144 0.944 0.941 0.688 0.863 0.396 0.402 0.523 0.85 0.831 0.856 0.987 0.082 0.781 0.361 0.817 0.887 0.706 0.935 0.626 0.724 0.893 0.772 0.583 0.454 0.798 0.497 0.898 0.545 0.46 0.551 0.421 0.275 0.249 0.232 0.706 0.348 0.502 0.164 0.651 0.145 0.245 0.961 0.5 0.999 0.811 0.575 0.008 0.406 0.548 0.611 0.031 0.465 0.632 -mutational_signature_contribution_SBS21 SBS21 (MMR/MSI) DNA mismatch repair (MMR) and microsatellite instability (MSI); one of 7 MMR/MSI signatures: SBS6, SBS14, SBS15, SBS20, SBS26, and SBS44 https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS21.tt 0.305 0.004 0.746 0.432 0.993 0.078 0.45 0.989 0.06 0.077 0.473 0.24 0.679 0.337 0.976 0.707 0.609 0.149 0.249 0.033 0.275 0.211 0.094 0.683 0.306 0.67 0.877 0.184 0.439 0.651 0.5 0.774 0.942 0.461 0.214 0.302 0.263 0.731 0.818 0.965 0.735 0.209 0.259 0.179 0.93 0.066 0.002 0.277 0.788 0.463 0.922 0.647 0.357 0.069 0.191 0.307 0.227 0.739 0.497 0.233 0.129 -mutational_signature_contribution_SBS22 SBS22 (Arisolochic acid) Associated with aristolochic acid exposure https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS22.tt 0.711 0.311 0.193 0.219 0.696 0.977 0.596 0.694 0.938 0.64 0.454 0.868 0.665 0.442 0.617 0.813 0.67 0.412 0.965 0.222 0.267 0.221 0.891 0.928 0.809 0.956 0.626 0.372 0.428 0.58 0.639 0.95 0.824 0.154 0.671 0.159 0.892 0.078 0.852 0.215 0.089 0.037 0.765 0.185 0.126 0.694 0.601 0.62 0.467 0.458 0.116 0.807 0.572 0.973 0.723 0.514 0.77 0.122 0.141 0.476 0.711 -mutational_signature_contribution_SBS23 SBS23 (Unknown) Unknown etiology https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS23.tt 0.023 0 0.241 0.969 0.791 0.706 0.289 0.766 0.443 0.239 0.764 0.754 0.405 0.211 0.477 0.034 0.527 0.407 0.633 0 0.415 0.538 0.403 0.227 0.61 0.444 0.003 0.112 0.104 0.344 0.39 0.959 0.61 0.396 0.694 0.358 0.826 0.904 0.023 0.424 0.406 0 0.409 0.15 0.79 0.41 0 0.655 0.416 0.319 0.726 0.436 0.525 0.258 0.233 0.34 0.364 0.021 0.03 0.124 0.344 -mutational_signature_contribution_SBS24 SBS24 (Aflatoxin) Associated with aflatoxin exposure https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS24.tt 0.999 0.051 0.135 0.934 0.774 0.777 0.668 0.688 0.774 0.019 0.624 0.316 0.486 0.395 0.972 0.418 0.739 0.843 0.801 0.572 0.147 0.335 0.959 0.826 0.977 0.794 0.748 0.231 0.696 0.175 0.397 0.95 0.257 0.803 0.042 0.643 0.041 0.501 0.685 0.517 0.489 0.348 0.405 0.017 0.031 0.538 0.986 0.674 0.672 0.932 0.788 0.694 0.89 0.884 0.964 0.195 0.587 0.642 0.448 0.406 0.566 -mutational_signature_contribution_SBS25 SBS25 (Unknown) Unknown etiology but found in some Hodgkin's cell line samples derived from patients exposed to chemotherapy https://cancer.sanger.ac.uk/cosmic/signatures/SBS/SBS25.tt 0.938 0.011 0.855 0.957 0.572 0.849 0.407 0.066 0.487 0.428 0.257 0.992 0.553 0.463 0.387 0.799 0.886 0.825 0.783 0.163 0.383 0.512 0.392 0.954 0.846 0.91 0.072 0.12 0.206 0.458 0.968 0.736 0.557 0.075 0.59 0.121 0.515 0.782 0.797 0.547 0.37 0.092 0.765 0.581 0.146 0.665 0.059 0.802 0.866 0.427 0.865 0.947 0.55 0.818 0.641 0.522 0.613 0.443 0.899 0.073 0.682 diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutations_extended.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutations_extended.txt deleted file mode 100644 index b6ffde87206..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutations_extended.txt +++ /dev/null @@ -1,15156 +0,0 @@ -Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Consequence Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer t_ref_count t_alt_count n_ref_count n_alt_count HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Hotspot -ANK2 UCSF GRCh37 4 114257011 114257011 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Pri Untested WXS Illumina HiSeq 27 5 40 1 ENST00000357077.4:c.3389G>A p.Ser1130Asn p.S1130N ENST00000357077 NM_001148.4 1130 aGc/aAc 0 -ATRX UCSF GRCh37 X 76938230 76938231 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P01_Pri Untested WXS Illumina HiSeq 45 0 ENST00000373344.5:c.2518dup p.Arg840LysfsTer9 p.R840Kfs*9 ENST00000373344 NM_000489.3 839 -/A 0 -BCLAF1 UCSF GRCh37 6 136599392 136599392 + synonymous_variant Silent SNP G G A NOVEL P01_Pri Untested WXS Illumina HiSeq 151 31 206 0 ENST00000531224.1:c.627C>T p.Ser209= p.S209= ENST00000531224 NM_001077441.1 209 tcC/tcT 0 -BDP1 UCSF GRCh37 5 70811923 70811923 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 32 13 45 0 ENST00000358731.4:c.4685A>G p.Lys1562Arg p.K1562R ENST00000358731 NM_018429.2 1562 aAg/aGg 0 -BRIX1 UCSF GRCh37 5 34925341 34925341 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Pri Untested WXS Illumina HiSeq 20 6 31 0 ENST00000336767.5:c.803T>C p.Val268Ala p.V268A ENST00000336767 NM_018321.3 268 gTc/gCc 0 -CDHR5 UCSF GRCh37 11 618860 618860 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.029 P01_Pri Untested WXS Illumina HiSeq 21 3 24 1 ENST00000358353.3:c.1699A>G p.Ser567Gly p.S567G ENST00000358353 567 Agt/Ggt 0 -CES1 UCSF GRCh37 16 55862883 55862883 + missense_variant,splice_region_variant Missense_Mutation SNP C C A 1000g2010nov_all_0.320,snp132_rs34380375 P01_Pri Untested WXS Illumina HiSeq 14 6 25 1 ENST00000361503.4:c.53G>T p.Gly18Val p.G18V ENST00000361503 18 gGg/gTg 0 -CHRM2 UCSF GRCh37 7 136701008 136701008 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 41 5 64 0 ENST00000320658.5:c.1396A>G p.Arg466Gly p.R466G ENST00000320658 NM_001006632.1 466 Agg/Ggg 0 -CNOT4 UCSF GRCh37 7 135122975 135122975 + stop_gained Nonsense_Mutation SNP G G T NOVEL P01_Pri Untested WXS Illumina HiSeq 40 6 48 1 ENST00000315544.5:c.105C>A p.Tyr35Ter p.Y35* ENST00000315544 NM_001190848.1 35 taC/taA 0 -DDR1 UCSF GRCh37 6 30864491 30864491 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 31 24 25 0 ENST00000324771.8:c.1718A>G p.Asp573Gly p.D573G ENST00000324771 573 gAc/gGc 0 -DLC1 UCSF GRCh37 8 12950182 12950182 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 21 6 37 0 ENST00000276297.4:c.3679G>A p.Val1227Met p.V1227M ENST00000276297 NM_182643.2 1227 Gtg/Atg 0 -ERBB2IP UCSF GRCh37 5 65371004 65371004 + synonymous_variant Silent SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 54 21 89 0 ENST00000284037.5:c.3909A>G p.Pro1303= p.P1303= ENST00000284037 NM_001253697.1 1303 ccA/ccG 0 -FBXO18 UCSF GRCh37 10 5965617 5965617 + missense_variant Missense_Mutation SNP G G C NOVEL P01_Pri Untested WXS Illumina HiSeq 37 19 61 0 ENST00000362091.4:c.2356G>C p.Asp786His p.D786H ENST00000362091 NM_001258453.1 786 Gat/Cat 0 -FYB UCSF GRCh37 5 39122471 39122471 + missense_variant Missense_Mutation SNP G G T NOVEL P01_Pri Untested WXS Illumina HiSeq 31 5 52 1 ENST00000351578.6:c.1967C>A p.Thr656Asn p.T656N ENST00000351578 NM_199335.3 656 aCc/aAc 0 -HGSNAT UCSF GRCh37 8 43046714 43046714 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Pri Untested WXS Illumina HiSeq 33 12 56 0 ENST00000379644.4:c.1226T>C p.Leu409Pro p.L409P ENST00000379644 NM_152419.2 409 cTc/cCc 0 -HLA-C UCSF GRCh37 6 31238897 31238897 + missense_variant Missense_Mutation SNP C C G NOVEL P01_Pri Untested WXS Illumina HiSeq 39 6 25 1 ENST00000376228.5:c.572G>C p.Trp191Ser p.W191S ENST00000376228 NM_002117.5 191 tGg/tCg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 40 21 74 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KIF3C UCSF GRCh37 2 26204031 26204031 + synonymous_variant Silent SNP C C T NOVEL P01_Pri Untested WXS Illumina HiSeq 12 3 15 0 ENST00000264712.3:c.756G>A p.Arg252= p.R252= ENST00000264712 NM_002254.6 252 agG/agA 0 -KIR2DS4 UCSF GRCh37 19 55350964 55350965 + stop_gained,frameshift_variant Nonsense_Mutation INS - - CCCGGAGCTCCTATGACATGTA snp132_rs35757649 P01_Pri Untested WXS Illumina HiSeq 6 0 ENST00000339924.8:c.453_454insCCGGAGCTCCTATGACATGTAC p.Ile152ProfsTer5 p.I152Pfs*5 ENST00000339924 NM_001281971.1 151 tcc/tcCCCGGAGCTCCTATGACATGTAc 0 -LOXL4 UCSF GRCh37 10 100013411 100013411 + stop_gained Nonsense_Mutation SNP G G T NOVEL P01_Pri Untested WXS Illumina HiSeq 13 7 28 1 ENST00000260702.3:c.1734C>A p.Tyr578Ter p.Y578* ENST00000260702 NM_032211.6 578 taC/taA 0 -LTK UCSF GRCh37 15 41796420 41796420 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 12 4 22 0 ENST00000263800.6:c.2369T>C p.Leu790Pro p.L790P ENST00000263800 NM_002344.5 790 cTc/cCc 0 -MGAT4A UCSF GRCh37 2 99342774 99342774 + missense_variant Missense_Mutation SNP C C A snp132_rs79141144 P01_Pri Untested WXS Illumina HiSeq 28 4 35 1 ENST00000264968.3:c.22G>T p.Val8Leu p.V8L ENST00000264968 8 Gta/Tta 0 -MYH9 UCSF GRCh37 22 36717828 36717828 + stop_gained Nonsense_Mutation SNP G G T NOVEL P01_Pri Untested WXS Illumina HiSeq 29 5 36 0 ENST00000216181.5:c.744C>A p.Tyr248Ter p.Y248* ENST00000216181 NM_002473.4 248 taC/taA 0 -MYOCD UCSF GRCh37 17 12666467 12666467 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 45 23 77 0 ENST00000343344.4:c.2323A>G p.Thr775Ala p.T775A ENST00000343344 775 Act/Gct 0 -MYOCD UCSF GRCh37 17 12620673 12620673 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Pri Untested WXS Illumina HiSeq 17 4 58 0 ENST00000343344.4:c.188C>T p.Ser63Phe p.S63F ENST00000343344 63 tCc/tTc 0 -NUDT10 UCSF GRCh37 X 51076024 51076024 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.00397,1000g2011may_all_0.0126,snp132_rs2801626 P01_Pri Untested WXS Illumina HiSeq 13 3 10 0 ENST00000356450.2:c.207G>A p.Glu69= p.E69= ENST00000356450 69 gaG/gaA 0 -OR7C2 UCSF GRCh37 19 15052698 15052698 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 70 38 127 0 ENST00000248072.3:c.398C>T p.Thr133Met p.T133M ENST00000248072 NM_012377.1 133 aCg/aTg 0 -OVOL2 UCSF GRCh37 20 18005411 18005411 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Pri Untested WXS Illumina HiSeq 23 7 38 0 ENST00000278780.6:c.697G>A p.Val233Met p.V233M ENST00000278780 NM_021220.2 233 Gtg/Atg 0 -PRB1 UCSF GRCh37 12 11506582 11506582 + intron_variant Intron SNP C C T NOVEL P01_Pri Untested WXS Illumina HiSeq 41 6 35 1 ENST00000500254.2:c.313+142G>A *105* ENST00000500254 NM_199353.2 0 -PRKAB1 UCSF GRCh37 12 120114413 120114413 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Pri Untested WXS Illumina HiSeq 31 17 51 0 ENST00000229328.5:c.604G>A p.Ala202Thr p.A202T ENST00000229328 NM_006253.4 202 Gca/Aca 0 -PSG7 UCSF GRCh37 19 43430146 43430146 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 113 14 150 0 ENST00000406070.2:c.1022T>C p.Phe341Ser p.F341S ENST00000406070 NM_002783.2 341 tTc/tCc 0 -PSMD13 UCSF GRCh37 11 248855 248855 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Pri Untested WXS Illumina HiSeq 24 12 45 0 ENST00000532097.1:c.648C>T p.Leu216= p.L216= ENST00000532097 NM_002817.3 216 ctC/ctT 0 -RALGAPB UCSF GRCh37 20 37150153 37150153 + synonymous_variant Silent SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 74 36 102 0 ENST00000262879.6:c.1431A>G p.Gln477= p.Q477= ENST00000262879 477 caA/caG 0 -SERPINE1 UCSF GRCh37 7 100773852 100773852 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Pri Untested WXS Illumina HiSeq 85 32 105 0 ENST00000223095.4:c.422G>A p.Arg141Gln p.R141Q ENST00000223095 NM_000602.4 141 cGg/cAg 0 -SMPD4 UCSF GRCh37 2 130912789 130912789 + missense_variant Missense_Mutation SNP A A C NOVEL P01_Pri Untested WXS Illumina HiSeq 14 4 14 0 ENST00000409031.1:c.1450T>G p.Phe484Val p.F484V ENST00000409031 NM_017951.4 484 Ttt/Gtt 0 -SMPD4 UCSF GRCh37 2 130912778 130912778 + synonymous_variant Silent SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 15 4 15 0 ENST00000409031.1:c.1461T>C p.Phe487= p.F487= ENST00000409031 NM_017951.4 487 ttT/ttC 0 -SRRM2 UCSF GRCh37 16 2807494 2807494 + synonymous_variant Silent SNP G G A NOVEL P01_Pri Untested WXS Illumina HiSeq 40 13 59 0 ENST00000301740.8:c.264G>A p.Gln88= p.Q88= ENST00000301740 NM_016333.3 88 caG/caA 0 -TEX11 UCSF GRCh37 X 69749812 69749812 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 14 16 41 0 ENST00000344304.3:c.2603T>C p.Val868Ala p.V868A ENST00000344304 868 gTc/gCc 0 -TMPRSS15 UCSF GRCh37 21 19666630 19666630 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 34 8 44 0 ENST00000284885.3:c.2443G>A p.Val815Ile p.V815I ENST00000284885 NM_002772.2 815 Gtc/Atc 0 -TP53 UCSF GRCh37 17 7578527 7578527 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 14 4 15 0 ENST00000269305.4:c.403T>C p.Cys135Arg p.C135R ENST00000269305 NM_001126112.2 135 Tgc/Cgc 0 -TP53 UCSF GRCh37 17 7579310 7579310 + splice_donor_variant Splice_Site SNP A A C NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 24 9 55 0 ENST00000269305.4:c.375+2T>G p.X125_splice ENST00000269305 NM_001126112.2 0 -TPR UCSF GRCh37 1 186301466 186301466 + missense_variant Missense_Mutation SNP G G T NOVEL P01_Pri Untested WXS Illumina HiSeq 32 8 58 0 ENST00000367478.4:c.5465C>A p.Thr1822Asn p.T1822N ENST00000367478 NM_003292.2 1822 aCc/aAc 0 -TRIM33 UCSF GRCh37 1 114967346 114967346 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 28 15 59 0 ENST00000358465.2:c.1727A>G p.Gln576Arg p.Q576R ENST00000358465 NM_015906.3 576 cAa/cGa 0 -TYW1B UCSF GRCh37 7 72093896 72093896 + missense_variant Missense_Mutation SNP C C T snp132_rs7776775 P01_Pri Untested WXS Illumina HiSeq 35 4 38 1 ENST00000435769.2:c.1594G>A p.Glu532Lys p.E532K ENST00000435769 NM_001145440.1 532 Gaa/Aaa 0 -VCAN UCSF GRCh37 5 82815180 82815180 + missense_variant Missense_Mutation SNP C C A NOVEL P01_Pri Untested WXS Illumina HiSeq 43 7 57 1 ENST00000265077.3:c.1055C>A p.Thr352Lys p.T352K ENST00000265077 NM_004385.4 352 aCa/aAa 0 -WBSCR17 UCSF GRCh37 7 71175875 71175875 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Pri Untested WXS Illumina HiSeq 10 5 19 0 ENST00000333538.5:c.1630G>A p.Val544Ile p.V544I ENST00000333538 NM_022479.2 544 Gtc/Atc 0 -ZNF598 UCSF GRCh37 16 2048796 2048796 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.086,1000g2011may_all_0.1651,snp132_rs1058474 P01_Pri Untested WXS Illumina HiSeq 8 7 8 0 ENST00000431526.1:c.2268G>A p.Arg756= p.R756= ENST00000431526 756 agG/agA 0 -ZNF616 UCSF GRCh37 19 52620039 52620039 + missense_variant Missense_Mutation SNP A A C NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 105 19 150 0 ENST00000600228.1:c.378T>G p.His126Gln p.H126Q ENST00000600228 NM_178523.3 126 caT/caG 0 -AADAT UCSF GRCh37 4 170989794 170989794 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 24 91 0 ENST00000337664.4:c.848G>A p.Arg283Lys p.R283K ENST00000337664 NM_016228.3 283 aGa/aAa 0 -AAK1 UCSF GRCh37 2 69746264 69746264 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 4 13 0 ENST00000409085.4:c.1319C>T p.Pro440Leu p.P440L ENST00000409085 NM_014911.3 440 cCc/cTc 0 -ABCA2 UCSF GRCh37 9 139914833 139914833 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 7 11 0 ENST00000341511.6:c.1380C>T p.Ile460= p.I460= ENST00000341511 NM_212533.2 460 atC/atT 0 -ABCA4 UCSF GRCh37 1 94548977 94548977 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 154 34 179 0 ENST00000370225.3:c.789C>T p.Ser263= p.S263= ENST00000370225 NM_000350.2 263 agC/agT 0 -ABCA8 UCSF GRCh37 17 66914202 66914202 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 22 43 0 ENST00000269080.2:c.1913C>T p.Ala638Val p.A638V ENST00000269080 NM_007168.2 638 gCc/gTc 0 -ABCC10 UCSF GRCh37 6 43415071 43415071 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 7 23 0 ENST00000372530.4:c.3630C>T p.Ala1210= p.A1210= ENST00000372530 NM_001198934.1 1210 gcC/gcT 0 -ABCC3 UCSF GRCh37 17 48733333 48733333 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 8 16 0 ENST00000285238.8:c.186C>T p.Gly62= p.G62= ENST00000285238 NM_003786.3 62 ggC/ggT 0 -ABCC6 UCSF GRCh37 16 16281014 16281014 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 5 17 0 ENST00000205557.7:c.1834C>T p.Pro612Ser p.P612S ENST00000205557 NM_001171.5 612 Cct/Tct 0 -ABCC6 UCSF GRCh37 16 16259656 16259656 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 7 50 0 ENST00000205557.7:c.3130C>T p.Leu1044= p.L1044= ENST00000205557 NM_001171.5 1044 Ctg/Ttg 0 -ABCF1 UCSF GRCh37 6 30552213 30552213 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 53 6 21 0 ENST00000326195.8:c.1261G>A p.Ala421Thr p.A421T ENST00000326195 NM_001025091.1 421 Gcc/Acc 0 -ABCG4 UCSF GRCh37 11 119025283 119025283 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 4 22 0 ENST00000307417.3:c.538C>T p.Leu180= p.L180= ENST00000307417 NM_022169.4 180 Ctg/Ttg 0 -ABHD1 UCSF GRCh37 2 27353277 27353277 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0014 P01_Rec Untested WXS Illumina HiSeq 61 59 95 0 ENST00000316470.4:c.999C>T p.Pro333= p.P333= ENST00000316470 NM_032604.3 333 ccC/ccT 0 -ABHD14A UCSF GRCh37 3 52011925 52011925 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0106,snp132_rs34991570 P01_Rec Untested WXS Illumina HiSeq 7 33 74 0 ENST00000273596.3:c.108C>T p.Ala36= p.A36= ENST00000273596 NM_015407.4 36 gcC/gcT 0 -ABI3BP UCSF GRCh37 3 100523699 100523699 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 31 54 0 ENST00000284322.5:c.1684C>T p.Pro562Ser p.P562S ENST00000284322 NM_015429.3 562 Ccc/Tcc 0 -ABRA UCSF GRCh37 8 107781939 107781939 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 75 9 46 0 ENST00000311955.3:c.480G>A p.Arg160= p.R160= ENST00000311955 NM_139166.4 160 agG/agA 0 -ACACB UCSF GRCh37 12 109671612 109671612 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 4 28 51 0 ENST00000338432.7:c.4199G>A p.Ser1400Asn p.S1400N ENST00000338432 1400 aGc/aAc 0 -ACADSB UCSF GRCh37 10 124804002 124804002 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 5 48 0 ENST00000358776.4:c.900+1G>A p.X300_splice ENST00000358776 NM_001609.3 0 -ACCN1 UCSF GRCh37 17 32483105 32483105 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 29 38 0 ENST00000359872.6:c.447G>A p.Lys149= p.K149= ENST00000359872 NM_001094.4 149 aaG/aaA 0 -ACCN2 UCSF GRCh37 12 50473742 50473742 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 64 18 40 0 ENST00000447966.2:c.1109C>T p.Thr370Ile p.T370I ENST00000447966 NM_001095.3 370 aCc/aTc 0 -ACCN2 UCSF GRCh37 12 50473707 50473707 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 9 56 0 ENST00000447966.2:c.1074G>A p.Gln358= p.Q358= ENST00000447966 NM_001095.3 358 caG/caA 0 -ACHE UCSF GRCh37 7 100490086 100490086 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 11 22 0 ENST00000241069.5:c.1422G>A p.Met474Ile p.M474I ENST00000241069 NM_000665.3 474 atG/atA 0 -ACHE UCSF GRCh37 7 100491439 100491439 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 9 30 0 ENST00000241069.5:c.415C>T p.Pro139Ser p.P139S ENST00000241069 NM_000665.3 139 Cct/Tct 0 -ACIN1 UCSF GRCh37 14 23564285 23564285 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 6 17 0 ENST00000262710.1:c.211C>T p.Pro71Ser p.P71S ENST00000262710 NM_001164814.1 71 Cct/Tct 0 -ACOT7 UCSF GRCh37 1 6399581 6399581 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 3 11 0 ENST00000377855.2:c.360G>A p.Glu120= p.E120= ENST00000377855 NM_181864.2 120 gaG/gaA 0 -ACOT7 UCSF GRCh37 1 6399629 6399629 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 5 14 0 ENST00000377855.2:c.312G>A p.Leu104= p.L104= ENST00000377855 NM_181864.2 104 ctG/ctA 0 -ADGRF2P UCSF GRCh37 3 58514680 58514680 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 6 47 0 ENST00000302819.5:c.996C>T p.Asp332= p.D332= ENST00000302819 NM_003500.3 332 gaC/gaT 0 -ACSF2 UCSF GRCh37 17 48551629 48551629 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 24 44 0 ENST00000300441.4:c.1797+1G>A p.X599_splice ENST00000300441 NM_025149.4 0 -ACSM2A UCSF GRCh37 16 20482518 20482518 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 13 75 0 ENST00000219054.6:c.720C>T p.Leu240= p.L240= ENST00000219054 240 ctC/ctT 0 -ACSS1 UCSF GRCh37 20 24988489 24988489 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 39 6 20 0 ENST00000323482.4:c.1979G>A p.Gly660Glu p.G660E ENST00000323482 NM_001252675.1 660 gGa/gAa 0 -ACTL9 UCSF GRCh37 19 8808284 8808284 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 8 9 0 ENST00000324436.3:c.768C>T p.His256= p.H256= ENST00000324436 NM_178525.3 256 caC/caT 0 -ACTR2 UCSF GRCh37 2 65478212 65478212 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 21 101 0 ENST00000260641.5:c.427G>A p.Val143Ile p.V143I ENST00000260641 NM_005722.3 143 Gtt/Att 0 -ACY3 UCSF GRCh37 11 67410218 67410218 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 23 18 28 0 ENST00000255082.3:c.937C>T p.Pro313Ser p.P313S ENST00000255082 NM_080658.1 313 Cct/Tct 0 -ADAM10 UCSF GRCh37 15 58889799 58889799 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 35 61 0 ENST00000260408.3:c.2194C>T p.Pro732Ser p.P732S ENST00000260408 NM_001110.2 732 Ccc/Tcc 0 -ADAM11 UCSF GRCh37 17 42850761 42850761 + synonymous_variant Silent SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 16 11 14 0 ENST00000200557.6:c.958C>T p.Leu320= p.L320= ENST00000200557 NM_002390.4 320 Ctg/Ttg 0 -ADAM11 UCSF GRCh37 17 42854295 42854295 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 26 32 0 ENST00000200557.6:c.1646C>T p.Thr549Ile p.T549I ENST00000200557 NM_002390.4 549 aCc/aTc 0 -ADAM12 UCSF GRCh37 10 127824179 127824179 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 7 25 0 ENST00000368679.4:c.399C>T p.Val133= p.V133= ENST00000368679 NM_003474.4 133 gtC/gtT 0 -ADAMTS15 UCSF GRCh37 11 130331452 130331452 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 17 26 0 ENST00000299164.2:c.1026G>A p.Lys342= p.K342= ENST00000299164 NM_139055.2 342 aaG/aaA 0 -ADAMTS16 UCSF GRCh37 5 5306737 5306737 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 14 50 0 ENST00000274181.7:c.3307C>T p.Leu1103= p.L1103= ENST00000274181 NM_139056.2 1103 Ctg/Ttg 0 -ADAMTSL4 UCSF GRCh37 1 150528791 150528791 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 5 19 0 ENST00000271643.4:c.1525G>A p.Gly509Arg p.G509R ENST00000271643 NM_019032.4 509 Gga/Aga 0 -ADCY8 UCSF GRCh37 8 131848647 131848647 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 9 42 0 ENST00000286355.5:c.2551C>T p.Leu851Phe p.L851F ENST00000286355 NM_001115.2 851 Ctc/Ttc 0 -ADI1 UCSF GRCh37 2 3504731 3504731 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 11 25 0 ENST00000327435.6:c.274G>A p.Asp92Asn p.D92N ENST00000327435 NM_018269.3 92 Gac/Aac 0 -ADNP2 UCSF GRCh37 18 77896524 77896524 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 28 107 0 ENST00000262198.4:c.3228G>A p.Leu1076= p.L1076= ENST00000262198 NM_014913.3 1076 ttG/ttA 0 -ADORA3 UCSF GRCh37 1 112028394 112028394 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 29 84 0 ENST00000369717.4:c.698C>T p.Thr233Ile p.T233I ENST00000369717 NM_001081976.1 233 aCc/aTc 0 -AEBP1 UCSF GRCh37 7 44151787 44151787 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 10 29 0 ENST00000223357.3:c.2084G>A p.Gly695Asp p.G695D ENST00000223357 NM_001129.4 695 gGc/gAc 0 -AFAP1 UCSF GRCh37 4 7770645 7770645 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 20 42 0 ENST00000358461.2:c.2092G>A p.Ala698Thr p.A698T ENST00000358461 NM_198595.2 698 Gcg/Acg 0 -AFAP1 UCSF GRCh37 4 7811454 7811454 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 16 70 0 ENST00000358461.2:c.941G>A p.Gly314Asp p.G314D ENST00000358461 NM_198595.2 314 gGc/gAc 0 -AFAP1L2 UCSF GRCh37 10 116059077 116059077 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 5 37 0 ENST00000304129.4:c.2055C>T p.His685= p.H685= ENST00000304129 NM_001287824.1 685 caC/caT 0 -AFF3 UCSF GRCh37 2 100627968 100627968 + intron_variant Intron SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 79 12 77 0 ENST00000409236.2:c.54-2574G>A *18* ENST00000409236 0 -AGBL1 UCSF GRCh37 15 86697787 86697787 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 8 44 0 ENST00000441037.2:c.251C>T p.Ser84Phe p.S84F ENST00000441037 NM_152336.2 84 tCc/tTc 0 -AGBL2 UCSF GRCh37 11 47684615 47684615 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 110 19 147 1 ENST00000525123.1:c.2498C>T p.Ala833Val p.A833V ENST00000525123 NM_024783.3 833 gCc/gTc 0 -AGER UCSF GRCh37 6 32150123 32150123 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 24 43 0 ENST00000375076.4:c.865C>T p.Pro289Ser p.P289S ENST00000375076 NM_001206929.1 289 Cct/Tct 0 -AGRN UCSF GRCh37 1 979635 979635 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 3 13 0 ENST00000379370.2:c.2146C>T p.Pro716Ser p.P716S ENST00000379370 NM_198576.3 716 Ccg/Tcg 0 -AGT UCSF GRCh37 1 230839975 230839975 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 5 27 0 ENST00000366667.4:c.1233G>A p.Leu411= p.L411= ENST00000366667 NM_000029.3 411 ctG/ctA 0 -AGXT2L1 UCSF GRCh37 4 109681017 109681017 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 9 59 0 ENST00000296486.3:c.223G>A p.Glu75Lys p.E75K ENST00000296486 NM_031279.3 75 Gaa/Aaa 0 -AHNAK UCSF GRCh37 11 62297645 62297645 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 136 70 131 0 ENST00000378024.4:c.4244G>A p.Gly1415Glu p.G1415E ENST00000378024 NM_001620.2 1415 gGa/gAa 0 -AHNAK2 UCSF GRCh37 14 105411656 105411656 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 62 98 0 ENST00000333244.5:c.10132G>A p.Glu3378Lys p.E3378K ENST00000333244 NM_138420.2 3378 Gag/Aag 0 -AHNAK2 UCSF GRCh37 14 105416524 105416524 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 80 102 0 ENST00000333244.5:c.5264C>T p.Ala1755Val p.A1755V ENST00000333244 NM_138420.2 1755 gCc/gTc 0 -AIM1L UCSF GRCh37 1 26673016 26673016 + upstream_gene_variant 5'Flank SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 8 14 0 ENST00000308182 0 -AIPL1 UCSF GRCh37 17 6330210 6330210 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 16 26 0 ENST00000381129.3:c.633G>A p.Leu211= p.L211= ENST00000381129 NM_014336.3 211 ctG/ctA 0 -AK5 UCSF GRCh37 1 78001692 78001692 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 6 48 0 ENST00000354567.2:c.1589C>T p.Ala530Val p.A530V ENST00000354567 NM_174858.2 530 gCc/gTc 0 -AKAP1 UCSF GRCh37 17 55193506 55193506 + synonymous_variant Silent SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 25 19 26 0 ENST00000337714.3:c.2316G>A p.Gly772= p.G772= ENST00000337714 NM_003488.3 772 ggG/ggA 0 -AKAP1 UCSF GRCh37 17 55183547 55183547 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 77 14 38 0 ENST00000337714.3:c.722G>A p.Gly241Glu p.G241E ENST00000337714 NM_003488.3 241 gGg/gAg 0 -AKAP10 UCSF GRCh37 17 19812583 19812583 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 23 59 0 ENST00000225737.6:c.1894G>A p.Glu632Lys p.E632K ENST00000225737 NM_007202.3 632 Gaa/Aaa 0 -AKAP12 UCSF GRCh37 6 151670458 151670458 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 23 64 0 ENST00000253332.1:c.932C>T p.Thr311Ile p.T311I ENST00000253332 311 aCc/aTc 0 -AKAP9 UCSF GRCh37 7 91706181 91706181 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 21 61 0 ENST00000356239.3:c.6625G>A p.Glu2209Lys p.E2209K ENST00000356239 NM_147185.2 2209 Gaa/Aaa 0 -AKNAD1 UCSF GRCh37 1 109394475 109394475 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 87 53 120 0 ENST00000370001.3:c.812C>T p.Pro271Leu p.P271L ENST00000370001 NM_152763.4 271 cCt/cTt 0 -AKR1E2 UCSF GRCh37 10 4872960 4872960 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 32 53 0 ENST00000298375.7:c.133G>A p.Glu45Lys p.E45K ENST00000298375 NM_001040177.2 45 Gag/Aag 0 -ALDH8A1 UCSF GRCh37 6 135260414 135260414 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 30 51 0 ENST00000265605.2:c.582G>A p.Leu194= p.L194= ENST00000265605 NM_022568.3 194 ctG/ctA 0 -ALDOA UCSF GRCh37 16 30080180 30080180 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 24 48 0 ENST00000338110.5:c.421G>A p.Asp141Asn p.D141N ENST00000338110 NM_000034.3 141 Gac/Aac 0 -ALDOB UCSF GRCh37 9 104192239 104192239 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 22 48 0 ENST00000374855.4:c.122G>A p.Gly41Glu p.G41E ENST00000374855 NM_000035.3 41 gGg/gAg 0 -ALG6 UCSF GRCh37 1 63894432 63894432 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 69 43 106 0 ENST00000371108.4:c.1087C>T p.Pro363Ser p.P363S ENST00000371108 NM_013339.3 363 Cct/Tct 0 -ALKBH3 UCSF GRCh37 11 43941489 43941489 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 39 75 0 ENST00000302708.4:c.790C>T p.His264Tyr p.H264Y ENST00000302708 NM_139178.3 264 Cac/Tac 0 -ALMS1 UCSF GRCh37 2 73679463 73679463 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 47 87 0 ENST00000264448.6:c.5806C>T p.Pro1936Ser p.P1936S ENST00000264448 NM_015120.4 1936 Cct/Tct 0 -ALMS1 UCSF GRCh37 2 73717043 73717043 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 74 51 121 0 ENST00000264448.6:c.7954C>T p.Pro2652Ser p.P2652S ENST00000264448 NM_015120.4 2652 Cca/Tca 0 -ALMS1 UCSF GRCh37 2 73830377 73830377 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 23 34 0 ENST00000264448.6:c.12305C>T p.Ala4102Val p.A4102V ENST00000264448 NM_015120.4 4102 gCt/gTt 0 -ALPK1 UCSF GRCh37 4 113333097 113333097 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 23 5 21 0 ENST00000177648.9:c.391G>A p.Ala131Thr p.A131T ENST00000177648 131 Gcc/Acc 0 -ALS2 UCSF GRCh37 2 202606440 202606440 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 6 30 0 ENST00000264276.6:c.2308G>A p.Val770Ile p.V770I ENST00000264276 NM_020919.3 770 Gtc/Atc 0 -AMACR UCSF GRCh37 5 33989386 33989386 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 13 44 0 ENST00000335606.6:c.961C>T p.Gln321Ter p.Q321* ENST00000335606 NM_001167595.1 321 Cag/Tag 0 -AMACR UCSF GRCh37 5 33988422 33988422 + 3_prime_UTR_variant 3'UTR SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 13 58 0 ENST00000335606.6:c.*776C>T *259* ENST00000335606 NM_001167595.1 0 -AMBRA1 UCSF GRCh37 11 46569868 46569868 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 84 54 124 0 ENST00000458649.2:c.63G>A p.Arg21= p.R21= ENST00000458649 21 cgG/cgA 0 -AMFR UCSF GRCh37 16 56419852 56419852 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 9 21 0 ENST00000290649.5:c.1359C>T p.Ser453= p.S453= ENST00000290649 NM_001144.5 453 agC/agT 0 -AMMECR1 UCSF GRCh37 X 109507796 109507796 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 13 44 0 ENST00000262844.5:c.505G>A p.Asp169Asn p.D169N ENST00000262844 NM_015365.2 169 Gac/Aac 0 -AMOT UCSF GRCh37 X 112065871 112065871 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 9 29 0 ENST00000371959.3:c.484G>A p.Gly162Arg p.G162R ENST00000371959 NM_001113490.1 162 Gga/Aga 0 -AMY2B UCSF GRCh37 1 104120231 104120231 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 120 69 255 0 ENST00000361355.4:c.1220+1G>A p.X407_splice ENST00000361355 NM_020978.4 0 -AMZ1 UCSF GRCh37 7 2752379 2752379 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 10 9 0 ENST00000312371.4:c.1364C>T p.Pro455Leu p.P455L ENST00000312371 NM_133463.1 455 cCc/cTc 0 -ANK1 UCSF GRCh37 8 41552836 41552836 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 9 26 0 ENST00000347528.4:c.2974G>A p.Glu992Lys p.E992K ENST00000347528 NM_020477.2 992 Gag/Aag 0 -ANK1 UCSF GRCh37 8 41542129 41542129 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 3 22 0 ENST00000347528.4:c.4470C>T p.Ser1490= p.S1490= ENST00000347528 NM_020477.2 1490 agC/agT 0 -ANK2 UCSF GRCh37 4 114239724 114239724 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 6 28 0 ENST00000357077.4:c.2848G>A p.Gly950Ser p.G950S ENST00000357077 NM_001148.4 950 Ggc/Agc 0 -ANK2 UCSF GRCh37 4 114275995 114275995 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 111 20 90 0 ENST00000357077.4:c.6221G>A p.Gly2074Glu p.G2074E ENST00000357077 NM_001148.4 2074 gGa/gAa 0 -ANK3 UCSF GRCh37 10 61829559 61829559 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 31 38 0 ENST00000280772.2:c.11080G>A p.Glu3694Lys p.E3694K ENST00000280772 NM_020987.3 3694 Gaa/Aaa 0 -ANK3 UCSF GRCh37 10 61830291 61830291 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 37 69 0 ENST00000280772.2:c.10348G>A p.Gly3450Ser p.G3450S ENST00000280772 NM_020987.3 3450 Ggc/Agc 0 -ANKRD13C UCSF GRCh37 1 70819825 70819825 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 14 24 0 ENST00000370944.4:c.267C>T p.Ser89= p.S89= ENST00000370944 NM_030816.4 89 tcC/tcT 0 -ANKRD18B UCSF GRCh37 9 33548687 33548687 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 86 58 104 0 ENST00000290943.6:c.1715C>T p.Ala572Val p.A572V ENST00000290943 NM_001244752.1 572 gCt/gTt 0 -ANKRD30A UCSF GRCh37 10 37486358 37486358 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 111 19 135 0 ENST00000361713.1:c.2498C>T p.Ser833Phe p.S833F ENST00000361713 NM_052997.2 833 tCt/tTt 0 -ANKRD35 UCSF GRCh37 1 145562121 145562121 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 14 30 0 ENST00000355594.4:c.1809G>A p.Lys603= p.K603= ENST00000355594 NM_144698.4 603 aaG/aaA 0 -ANKRD5 UCSF GRCh37 20 10030860 10030860 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 20 64 0 ENST00000378380.3:c.1643G>A p.Gly548Glu p.G548E ENST00000378380 NM_198798.1 548 gGa/gAa 0 -ANKRD54 UCSF GRCh37 22 38228727 38228727 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 5 22 0 ENST00000215941.4:c.745C>T p.Leu249= p.L249= ENST00000215941 NM_138797.2 249 Ctg/Ttg 0 -ANKS1B UCSF GRCh37 12 99166907 99166907 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 26 113 0 ENST00000547776.2:c.3417C>T p.Asp1139= p.D1139= ENST00000547776 NM_152788.4 1139 gaC/gaT 0 -ANO3 UCSF GRCh37 11 26556003 26556003 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 19 44 0 ENST00000256737.3:c.870C>T p.His290= p.H290= ENST00000256737 NM_031418.2 290 caC/caT 0 -ANO7 UCSF GRCh37 2 242138787 242138787 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 5 18 0 ENST00000274979.8:c.528G>A p.Trp176Ter p.W176* ENST00000274979 NM_001001891.3 176 tgG/tgA 0 -ANTXR2 UCSF GRCh37 4 80905121 80905121 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 80 20 109 0 ENST00000307333.7:c.1090G>A p.Glu364Lys p.E364K ENST00000307333 NM_001145794.1 364 Gaa/Aaa 0 -AP3D1 UCSF GRCh37 19 2129445 2129445 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 5 21 0 ENST00000345016.5:c.604G>A p.Ala202Thr p.A202T ENST00000345016 NM_003938.6 202 Gct/Act 0 -AP4E1 UCSF GRCh37 15 51250900 51250900 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 135 26 147 0 ENST00000261842.5:c.1760G>A p.Arg587Lys p.R587K ENST00000261842 NM_001252127.1 587 aGa/aAa 0 -APEH UCSF GRCh37 3 49720324 49720324 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 15 26 0 ENST00000296456.5:c.1932C>T p.Asp644= p.D644= ENST00000296456 NM_001640.3 644 gaC/gaT 0 -APIP UCSF GRCh37 11 34916587 34916587 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 91 11 65 0 ENST00000395787.3:c.128G>A p.Gly43Glu p.G43E ENST00000395787 NM_015957.2 43 gGg/gAg 0 -APOBEC3H UCSF GRCh37 22 39497501 39497501 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 18 7 18 0 ENST00000401756.1:c.410G>A p.Gly137Asp p.G137D ENST00000401756 NM_001166003.1 137 gGc/gAc 0 -APOO UCSF GRCh37 X 23897071 23897071 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 3 21 16 0 ENST00000379226.4:c.198G>A p.Gln66= p.Q66= ENST00000379226 NM_024122.4 66 caG/caA 0 -APPL2 UCSF GRCh37 12 105591584 105591584 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 11 34 0 ENST00000258530.3:c.1011C>T p.Asp337= p.D337= ENST00000258530 NM_001251904.1 337 gaC/gaT 0 -ARAP3 UCSF GRCh37 5 141033770 141033770 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 13 17 0 ENST00000239440.4:c.4382G>A p.Arg1461Lys p.R1461K ENST00000239440 NM_022481.5 1461 aGg/aAg 0 -ARFGAP3 UCSF GRCh37 22 43243638 43243638 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 8 106 0 ENST00000263245.5:c.70G>A p.Val24Met p.V24M ENST00000263245 NM_014570.4 24 Gtg/Atg 0 -ARHGAP21 UCSF GRCh37 10 24874187 24874187 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 89 54 164 0 ENST00000396432.2:c.5031C>T p.Thr1677= p.T1677= ENST00000396432 NM_020824.3 1677 acC/acT 0 -ARHGAP28 UCSF GRCh37 18 6896545 6896545 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 8 57 0 ENST00000383472.4:c.1950C>T p.Leu650= p.L650= ENST00000383472 650 ctC/ctT 0 -ARHGAP30 UCSF GRCh37 1 161024235 161024235 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 4 19 0 ENST00000368013.3:c.457G>A p.Val153Ile p.V153I ENST00000368013 NM_181720.2 153 Gta/Ata 0 -ARHGAP35 UCSF GRCh37 19 47425094 47425094 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 25 92 0 ENST00000404338.3:c.3162G>A p.Gly1054= p.G1054= ENST00000404338 NM_004491.4 1054 ggG/ggA 0 -ARHGAP42 UCSF GRCh37 11 100847606 100847606 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 35 60 0 ENST00000298815.8:c.2297C>T p.Pro766Leu p.P766L ENST00000298815 NM_152432.2 766 cCc/cTc 0 -ARHGDIA UCSF GRCh37 17 79827721 79827721 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 3 13 0 ENST00000269321.7:c.86C>T p.Pro29Leu p.P29L ENST00000269321 NM_001185078.1 29 cCc/cTc 0 -ARHGEF15 UCSF GRCh37 17 8218574 8218574 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 11 21 0 ENST00000361926.3:c.1239C>T p.Pro413= p.P413= ENST00000361926 NM_173728.3 413 ccC/ccT 0 -ARHGEF2 UCSF GRCh37 1 155931569 155931569 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 18 35 0 ENST00000361247.4:c.1351C>T p.Pro451Ser p.P451S ENST00000361247 NM_001162384.1 451 Cct/Tct 0 -ARHGEF33 UCSF GRCh37 2 39193159 39193159 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 88 41 107 0 ENST00000409978.1:c.2356G>A p.Glu786Lys p.E786K ENST00000409978 786 Gaa/Aaa 0 -ARHGEF40 UCSF GRCh37 14 21543874 21543874 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 9 18 0 ENST00000298694.4:c.1689C>T p.Pro563= p.P563= ENST00000298694 NM_001278529.1 563 ccC/ccT 0 -ARHGEF6 UCSF GRCh37 X 135767925 135767925 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 8 77 0 ENST00000250617.6:c.1303C>T p.Pro435Ser p.P435S ENST00000250617 NM_004840.2 435 Cct/Tct 0 -ARID1A UCSF GRCh37 1 27106143 27106143 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 60 41 74 0 ENST00000324856.7:c.5754G>A p.Arg1918= p.R1918= ENST00000324856 NM_006015.4 1918 cgG/cgA 0 -ARID4B UCSF GRCh37 1 235386532 235386532 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 12 42 0 ENST00000264183.3:c.1014G>A p.Leu338= p.L338= ENST00000264183 NM_016374.5 338 ttG/ttA 0 -ARID5B UCSF GRCh37 10 63851799 63851799 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 112 16 113 1 ENST00000279873.7:c.2577G>A p.Arg859= p.R859= ENST00000279873 NM_032199.2 859 agG/agA 0 -ARNT2 UCSF GRCh37 15 80845102 80845102 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 56 107 0 ENST00000303329.4:c.1076G>A p.Gly359Asp p.G359D ENST00000303329 NM_014862.3 359 gGc/gAc 0 -ARSI UCSF GRCh37 5 149677350 149677350 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 4 19 0 ENST00000328668.7:c.1137G>A p.Glu379= p.E379= ENST00000328668 NM_001012301.2 379 gaG/gaA 0 -ART5 UCSF GRCh37 11 3661212 3661212 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 5 22 51 0 ENST00000359918.4:c.447C>T p.Gly149= p.G149= ENST00000359918 NM_001079536.1 149 ggC/ggT 0 -ASAP2 UCSF GRCh37 2 9496363 9496363 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 115 17 72 0 ENST00000281419.3:c.1216G>A p.Gly406Arg p.G406R ENST00000281419 NM_003887.2 406 Ggg/Agg 0 -ASAP3 UCSF GRCh37 1 23758293 23758293 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 14 36 0 ENST00000336689.3:c.2442C>T p.Ala814= p.A814= ENST00000336689 NM_017707.3 814 gcC/gcT 0 -ASCC3 UCSF GRCh37 6 101053571 101053571 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 22 67 0 ENST00000369162.2:c.5050C>T p.Leu1684Phe p.L1684F ENST00000369162 NM_006828.2 1684 Ctc/Ttc 0 -ASGR2 UCSF GRCh37 17 7017555 7017555 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 15 35 0 ENST00000355035.5:c.5C>T p.Ala2Val p.A2V ENST00000355035 2 gCc/gTc 0 -ASGR2 UCSF GRCh37 17 7010367 7010367 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 7 34 0 ENST00000355035.5:c.615C>T p.Cys205= p.C205= ENST00000355035 205 tgC/tgT 0 -ASNA1 UCSF GRCh37 19 12858848 12858849 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P01_Rec Untested WXS Illumina HiSeq 6 0 ENST00000357332.3:c.982dup p.Ala328GlyfsTer90 p.A328Gfs*90 ENST00000357332 NM_004317.2 326 cgg/cgGg 0 -ASNA1 UCSF GRCh37 19 12858790 12858790 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 9 28 0 ENST00000357332.3:c.919G>A p.Glu307Lys p.E307K ENST00000357332 NM_004317.2 307 Gag/Aag 0 -ASNS UCSF GRCh37 7 97488694 97488694 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 25 66 0 ENST00000175506.4:c.504G>A p.Lys168= p.K168= ENST00000175506 NM_183356.3 168 aaG/aaA 0 -ASPM UCSF GRCh37 1 197102528 197102528 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 30 60 0 ENST00000367409.4:c.2371G>A p.Ala791Thr p.A791T ENST00000367409 NM_018136.4 791 Gct/Act 0 -ASPM UCSF GRCh37 1 197104229 197104229 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 13 50 0 ENST00000367409.4:c.2170G>A p.Glu724Lys p.E724K ENST00000367409 NM_018136.4 724 Gaa/Aaa 0 -ASTL UCSF GRCh37 2 96795688 96795688 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 6 24 0 ENST00000342380.2:c.749C>T p.Thr250Ile p.T250I ENST00000342380 NM_001002036.3 250 aCc/aTc 0 -ASTN2 UCSF GRCh37 9 119203066 119203066 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 35 70 0 ENST00000313400.4:c.3604G>A p.Ala1202Thr p.A1202T ENST00000313400 1202 Gct/Act 0 -ATE1 UCSF GRCh37 10 123600639 123600639 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 19 44 0 ENST00000224652.6:c.1115C>T p.Pro372Leu p.P372L ENST00000224652 NM_001001976.1 372 cCt/cTt 0 -ATF6B UCSF GRCh37 6 32085767 32085767 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 14 25 0 ENST00000375203.3:c.1293G>A p.Gly431= p.G431= ENST00000375203 NM_001136153.1 431 ggG/ggA 0 -ATG13 UCSF GRCh37 11 46671758 46671758 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 42 75 0 ENST00000359513.4:c.349G>A p.Val117Met p.V117M ENST00000359513 117 Gtg/Atg 0 -ATM UCSF GRCh37 11 108165786 108165786 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 77 48 143 0 ENST00000278616.4:c.4909G>A p.Asp1637Asn p.D1637N ENST00000278616 NM_000051.3 1637 Gat/Aat 0 -ATN1 UCSF GRCh37 12 7046299 7046299 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 12 38 0 ENST00000356654.4:c.1869C>T p.Ser623= p.S623= ENST00000356654 NM_001007026.1 623 tcC/tcT 0 -ATP10D UCSF GRCh37 4 47583992 47583992 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 39 83 0 ENST00000273859.3:c.3664G>A p.Asp1222Asn p.D1222N ENST00000273859 NM_020453.3 1222 Gat/Aat 0 -ATP10D UCSF GRCh37 4 47514620 47514620 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 12 62 0 ENST00000273859.3:c.63G>A p.Arg21= p.R21= ENST00000273859 NM_020453.3 21 agG/agA 0 -ATP1A4 UCSF GRCh37 1 160136342 160136342 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 6 46 0 ENST00000368081.4:c.1072C>T p.Arg358Cys p.R358C ENST00000368081 NM_144699.3 358 Cgc/Tgc 0 -ATP5J2-PTCD1 UCSF GRCh37 7 99017752 99017752 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 35 58 0 ENST00000292478.4:c.1941C>T p.Tyr647= p.Y647= ENST00000292478 NM_015545.3 647 taC/taT 0 -ATP6AP1L UCSF GRCh37 5 81608429 81608429 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 38 125 0 ENST00000380167.4:c.132-1G>A p.X44_splice ENST00000380167 0 -ATP6V0A1 UCSF GRCh37 17 40652850 40652850 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 63 103 0 ENST00000343619.4:c.1805C>T p.Ser602Phe p.S602F ENST00000343619 NM_001130021.1 602 tCt/tTt 0 -ATP8B4 UCSF GRCh37 15 50168672 50168672 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 29 58 0 ENST00000284509.6:c.2830G>A p.Gly944Arg p.G944R ENST00000284509 NM_024837.3 944 Gga/Aga 0 -ATP9B UCSF GRCh37 18 77133916 77133916 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 11 28 0 ENST00000426216.2:c.3089G>A p.Gly1030Glu p.G1030E ENST00000426216 NM_198531.3 1030 gGg/gAg 0 -ATRX UCSF GRCh37 X 76938230 76938231 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P01_Rec Untested WXS Illumina HiSeq 92 0 ENST00000373344.5:c.2518dup p.Arg840LysfsTer9 p.R840Kfs*9 ENST00000373344 NM_000489.3 839 -/A 0 -ATXN2L UCSF GRCh37 16 28841357 28841357 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 4 11 0 ENST00000336783.4:c.1012G>A p.Glu338Lys p.E338K ENST00000336783 NM_007245.3 338 Gag/Aag 0 -ATXN7L1 UCSF GRCh37 7 105279975 105279975 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 29 79 0 ENST00000419735.3:c.904C>T p.Pro302Ser p.P302S ENST00000419735 NM_020725.1 302 Ccc/Tcc 0 -AUTS2 UCSF GRCh37 7 70228160 70228160 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 11 11 0 ENST00000342771.4:c.1047G>A p.Gln349= p.Q349= ENST00000342771 NM_015570.2 349 caG/caA 0 -AVPR2 UCSF GRCh37 X 153171289 153171289 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 2 17 11 0 ENST00000337474.5:c.329C>T p.Ala110Val p.A110V ENST00000337474 NM_001146151.1 110 gCc/gTc 0 -AXDMT-ND1 UCSF GRCh37 1 179364322 179364322 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 127 154 0 ENST00000367618.3:c.1094C>T p.Ala365Val p.A365V ENST00000367618 NM_144696.5 365 gCg/gTg 0 -B4GALNT4 UCSF GRCh37 11 373242 373242 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 5 34 0 ENST00000329962.6:c.587G>A p.Ser196Asn p.S196N ENST00000329962 NM_178537.4 196 aGt/aAt 0 -NCR3LG1 UCSF GRCh37 11 17378221 17378221 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 16 33 0 ENST00000338965.4:c.94G>A p.Ala32Thr p.A32T ENST00000338965 NM_001202439.1 32 Gca/Aca 0 -BATF UCSF GRCh37 14 76012859 76012859 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 7 13 0 ENST00000286639.6:c.223C>T p.Leu75Phe p.L75F ENST00000286639 NM_006399.3 75 Ctc/Ttc 0 -BAZ1A UCSF GRCh37 14 35262103 35262103 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 82 16 76 0 ENST00000360310.1:c.1388G>A p.Gly463Glu p.G463E ENST00000360310 NM_013448.2 463 gGa/gAa 0 -BBS10 UCSF GRCh37 12 76740484 76740484 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 23 98 0 ENST00000393262.3:c.1281C>T p.Asp427= p.D427= ENST00000393262 NM_024685.3 427 gaC/gaT 0 -BBX UCSF GRCh37 3 107435664 107435664 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 35 68 0 ENST00000325805.8:c.373G>A p.Glu125Lys p.E125K ENST00000325805 125 Gaa/Aaa 0 -BCAS1 UCSF GRCh37 20 52644934 52644934 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 79 58 89 0 ENST00000395961.3:c.720G>A p.Gly240= p.G240= ENST00000395961 NM_003657.2 240 ggG/ggA 0 -BCLAF1 UCSF GRCh37 6 136599392 136599392 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 213 46 206 0 ENST00000531224.1:c.627C>T p.Ser209= p.S209= ENST00000531224 NM_001077441.1 209 tcC/tcT 0 -BCO2 UCSF GRCh37 11 112050076 112050076 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 91 16 136 0 ENST00000357685.5:c.164C>T p.Ala55Val p.A55V ENST00000357685 55 gCa/gTa 0 -BCO2 UCSF GRCh37 11 112064368 112064368 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0021 P01_Rec Untested WXS Illumina HiSeq 43 7 61 0 ENST00000357685.5:c.465G>A p.Lys155= p.K155= ENST00000357685 155 aaG/aaA 0 -BCOR UCSF GRCh37 X 39931725 39931725 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 6 14 0 ENST00000378444.4:c.2874G>A p.Lys958= p.K958= ENST00000378444 NM_001123385.1 958 aaG/aaA 0 -BDP1 UCSF GRCh37 5 70763227 70763227 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 108 53 185 0 ENST00000358731.4:c.832G>A p.Glu278Lys p.E278K ENST00000358731 NM_018429.2 278 Gaa/Aaa 0 -BDP1 UCSF GRCh37 5 70811923 70811923 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 26 25 45 0 ENST00000358731.4:c.4685A>G p.Lys1562Arg p.K1562R ENST00000358731 NM_018429.2 1562 aAg/aGg 0 -BDP1 UCSF GRCh37 5 70806948 70806948 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 101 28 150 0 ENST00000358731.4:c.4029C>T p.Asp1343= p.D1343= ENST00000358731 NM_018429.2 1343 gaC/gaT 0 -BEMT-ND2 UCSF GRCh37 X 18183254 18183254 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 66 11 49 0 ENST00000380033.4:c.2275C>T p.Arg759Cys p.R759C ENST00000380033 NM_153346.4 759 Cgt/Tgt 0 -BIRC2 UCSF GRCh37 11 102234398 102234398 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 14 48 0 ENST00000227758.2:c.1075-1G>A p.X359_splice ENST00000227758 NM_001166.4 0 -BIVM UCSF GRCh37 13 103492195 103492195 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 47 103 0 ENST00000257336.1:c.1492G>A p.Asp498Asn p.D498N ENST00000257336 NM_017693.3 498 Gat/Aat 0 -BMPER UCSF GRCh37 7 34125416 34125416 + missense_variant Missense_Mutation SNP C C G NOVEL P01_Rec Untested WXS Illumina HiSeq 24 9 33 0 ENST00000297161.2:c.1457C>G p.Ala486Gly p.A486G ENST00000297161 NM_133468.4 486 gCg/gGg 0 -BMS1 UCSF GRCh37 10 43294010 43294010 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 38 64 0 ENST00000374518.5:c.2184G>A p.Lys728= p.K728= ENST00000374518 NM_014753.3 728 aaG/aaA 0 -BOLL UCSF GRCh37 2 198631273 198631273 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 33 16 47 0 ENST00000392296.4:c.535C>T p.Pro179Ser p.P179S ENST00000392296 NM_033030.5 179 Cct/Tct 0 -BPGM UCSF GRCh37 7 134346330 134346330 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 32 68 0 ENST00000344924.3:c.71G>A p.Ser24Asn p.S24N ENST00000344924 NM_001724.4 24 aGc/aAc 0 -BPGM UCSF GRCh37 7 134346538 134346538 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 16 36 0 ENST00000344924.3:c.279G>A p.Gly93= p.G93= ENST00000344924 NM_001724.4 93 ggG/ggA 0 -BPIFA1 UCSF GRCh37 20 31829272 31829272 + synonymous_variant Silent SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 58 48 66 0 ENST00000354297.4:c.663C>T p.Gly221= p.G221= ENST00000354297 NM_130852.2 221 ggC/ggT 0 -BPIFB2 UCSF GRCh37 20 31606597 31606597 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 19 29 0 ENST00000170150.3:c.824G>A p.Gly275Asp p.G275D ENST00000170150 NM_025227.2 275 gGt/gAt 0 -BRE UCSF GRCh37 2 28464226 28464226 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 16 58 0 ENST00000342045.2:c.817G>A p.Glu273Lys p.E273K ENST00000342045 NM_199194.2 273 Gag/Aag 0 -BRIP1 UCSF GRCh37 17 59878736 59878736 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 128 59 172 0 ENST00000259008.2:c.1018C>T p.Leu340Phe p.L340F ENST00000259008 NM_032043.2 340 Ctt/Ttt 0 -BRIX1 UCSF GRCh37 5 34925341 34925341 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 16 12 31 0 ENST00000336767.5:c.803T>C p.Val268Ala p.V268A ENST00000336767 NM_018321.3 268 gTc/gCc 0 -BSCL2 UCSF GRCh37 11 62457979 62457979 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 8 35 0 ENST00000403550.1:c.1057G>A p.Glu353Lys p.E353K ENST00000403550 353 Gaa/Aaa 0 -BTN2A1 UCSF GRCh37 6 26459959 26459959 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 23 53 0 ENST00000312541.5:c.333C>T p.Val111= p.V111= ENST00000312541 NM_007049.4 111 gtC/gtT 0 -BTNL8 UCSF GRCh37 5 180376987 180376987 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 33 26 0 ENST00000340184.4:c.946C>T p.Gln316Ter p.Q316* ENST00000340184 NM_001040462.2 316 Cag/Tag 0 -BZRAP1 UCSF GRCh37 17 56384227 56384227 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 9 48 0 ENST00000343736.4:c.5086C>T p.Pro1696Ser p.P1696S ENST00000343736 1696 Cct/Tct 0 -BZRAP1 UCSF GRCh37 17 56395646 56395646 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 6 27 0 ENST00000343736.4:c.1867C>T p.Pro623Ser p.P623S ENST00000343736 623 Cct/Tct 0 -LCOR UCSF GRCh37 10 98744633 98744633 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 32 112 0 ENST00000286067.2:c.3486G>A p.Arg1162= p.R1162= ENST00000286067 NM_015652.2 1162 agG/agA 0 -C10orf120 UCSF GRCh37 10 124457495 124457496 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P01_Rec Untested WXS Illumina HiSeq 8 0 ENST00000329446.4:c.762dup p.Cys255MetfsTer8 p.C255Mfs*8 ENST00000329446 NM_001010912.2 254 aaa/aaAa 0 -C10orf2 UCSF GRCh37 10 102748828 102748828 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 110 20 76 0 ENST00000311916.2:c.861G>A p.Thr287= p.T287= ENST00000311916 NM_021830.4 287 acG/acA 0 -C10orf28 UCSF GRCh37 10 99968816 99968816 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 64 110 0 ENST00000298999.3:c.945C>T p.Ile315= p.I315= ENST00000298999 NM_014472.4 315 atC/atT 0 -C10orf92 UCSF GRCh37 10 134628221 134628221 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 2 14 20 0 ENST00000368586.5:c.7218C>T p.Asp2406= p.D2406= ENST00000368586 NM_001200049.2 2406 gaC/gaT 0 -C11orf41 UCSF GRCh37 11 33604909 33604909 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 8 32 0 ENST00000321505.4:c.3537C>T p.Asn1179= p.N1179= ENST00000321505 1179 aaC/aaT 0 -C11orf80 UCSF GRCh37 11 66571660 66571660 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 25 96 0 ENST00000525908.1:c.890C>T p.Ser297Phe p.S297F ENST00000525908 297 tCc/tTc 0 -C14orf159 UCSF GRCh37 14 91681764 91681764 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 15 52 0 ENST00000428926.2:c.1565G>A p.Gly522Glu p.G522E ENST00000428926 NM_024952.6 522 gGa/gAa 0 -C14orf159 UCSF GRCh37 14 91681784 91681784 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0069,snp132_rs115874122 P01_Rec Untested WXS Illumina HiSeq 25 15 51 0 ENST00000428926.2:c.1585G>A p.Ala529Thr p.A529T ENST00000428926 NM_024952.6 529 Gca/Aca 0 -C14orf183 UCSF GRCh37 14 50558224 50558224 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 4 22 0 ENST00000305273.1:c.344C>T p.Ser115Phe p.S115F ENST00000305273 NM_001014830.1 115 tCc/tTc 0 -C15orf55 UCSF GRCh37 15 34640190 34640190 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 29 44 0 ENST00000333756.4:c.37G>A p.Asp13Asn p.D13N ENST00000333756 NM_175741.1 13 Gat/Aat 0 -C17orf57 UCSF GRCh37 17 45479557 45479557 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 13 65 0 ENST00000331493.2:c.2005G>A p.Ala669Thr p.A669T ENST00000331493 NM_152347.4 669 Gcc/Acc 0 -C17orf90 UCSF GRCh37 17 79632460 79632460 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 8 19 0 ENST00000374741.3:c.215G>A p.Gly72Asp p.G72D ENST00000374741 NM_001039842.1 72 gGc/gAc 0 -C18orf1 UCSF GRCh37 18 13645276 13645276 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 27 55 0 ENST00000359446.5:c.541C>T p.Pro181Ser p.P181S ENST00000359446 NM_181481.4 181 Cct/Tct 0 -C18orf34 UCSF GRCh37 18 30913143 30913143 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P01_Rec Untested WXS Illumina HiSeq 6 0 ENST00000383096.3:c.874delA p.Met292TrpfsTer3 p.M292Wfs*3 ENST00000383096 292 Atg/tg 0 -C18orf34 UCSF GRCh37 18 30803094 30803094 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 44 148 0 ENST00000383096.3:c.1908C>T p.Thr636= p.T636= ENST00000383096 636 acC/acT 0 -C18orf55 UCSF GRCh37 18 71816298 71816298 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 59 31 76 0 ENST00000169551.6:c.255G>A p.Val85= p.V85= ENST00000169551 NM_014177.2 85 gtG/gtA 0 -C1GALT1 UCSF GRCh37 7 7278542 7278542 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 15 53 0 ENST00000223122.3:c.877C>T p.Pro293Ser p.P293S ENST00000223122 293 Cct/Tct 0 -FIRRM UCSF GRCh37 1 169773349 169773349 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 112 26 121 0 ENST00000286031.6:c.446A>G p.Asp149Gly p.D149G ENST00000286031 NM_018186.2 149 gAt/gGt 0 -C1orf116 UCSF GRCh37 1 207196449 207196449 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 13 42 0 ENST00000359470.5:c.660G>A p.Gly220= p.G220= ENST00000359470 NM_023938.5 220 ggG/ggA 0 -C1orf87 UCSF GRCh37 1 60505800 60505800 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.00092 P01_Rec Untested WXS Illumina HiSeq 76 34 81 0 ENST00000371201.3:c.536C>T p.Ala179Val p.A179V ENST00000371201 NM_152377.2 179 gCc/gTc 0 -C1orf95 UCSF GRCh37 1 226784582 226784582 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 28 45 0 ENST00000366788.3:c.282G>A p.Trp94Ter p.W94* ENST00000366788 NM_001003665.3 94 tgG/tgA 0 -C1QTNF2 UCSF GRCh37 5 159776608 159776608 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 4 38 0 ENST00000393975.3:c.560G>A p.Ser187Asn p.S187N ENST00000393975 NM_031908.4 187 aGc/aAc 0 -C1S UCSF GRCh37 12 7172489 7172489 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 79 16 84 0 ENST00000328916.3:c.603G>A p.Arg201= p.R201= ENST00000328916 NM_201442.2 201 agG/agA 0 -C20orf12 UCSF GRCh37 20 18395058 18395058 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 27 55 0 ENST00000262547.5:c.1176C>T p.Ser392= p.S392= ENST00000262547 NM_001099407.1 392 tcC/tcT 0 -C20orf12 UCSF GRCh37 20 18371103 18371103 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 77 14 67 0 ENST00000262547.5:c.1810C>T p.Pro604Ser p.P604S ENST00000262547 NM_001099407.1 604 Cct/Tct 0 -C20orf194 UCSF GRCh37 20 3251135 3251135 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 23 43 0 ENST00000252032.9:c.2724C>T p.Ser908= p.S908= ENST00000252032 NM_001009984.2 908 agC/agT 0 -C21orf7 UCSF GRCh37 21 30464779 30464779 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 40 73 0 ENST00000286791.5:c.247G>A p.Ala83Thr p.A83T ENST00000286791 83 Gca/Aca 0 -C22orf29 UCSF GRCh37 22 19839596 19839596 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 13 23 0 ENST00000328554.4:c.189G>A p.Glu63= p.E63= ENST00000328554 NM_024627.5 63 gaG/gaA 0 -C2CD3 UCSF GRCh37 11 73825484 73825484 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 17 21 0 ENST00000334126.7:c.1675C>T p.Pro559Ser p.P559S ENST00000334126 NM_001286577.1 559 Cct/Tct 0 -C3orf20 UCSF GRCh37 3 14724457 14724457 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 17 33 0 ENST00000253697.3:c.237G>A p.Val79= p.V79= ENST00000253697 NM_032137.4 79 gtG/gtA 0 -C3orf39 UCSF GRCh37 3 43121858 43121858 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 8 24 0 ENST00000344697.2:c.1066C>T p.Pro356Ser p.P356S ENST00000344697 NM_032806.5 356 Ccc/Tcc 0 -C3orf54 UCSF GRCh37 3 49842058 49842058 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 3 21 0 ENST00000333323.4:c.502G>A p.Glu168Lys p.E168K ENST00000333323 NM_203370.1 168 Gaa/Aaa 0 -C3orf55 UCSF GRCh37 3 157289050 157289050 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 15 27 0 ENST00000449199.2:c.168G>A p.Leu56= p.L56= ENST00000449199 NM_001130002.2 56 ctG/ctA 0 -C3orf77 UCSF GRCh37 3 44285883 44285883 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P01_Rec Untested WXS Illumina HiSeq 17 0 ENST00000309765.4:c.1893del p.Ala632LeufsTer5 p.A632Lfs*5 ENST00000309765 NM_001145030.1 629 Aaa/aa 0 -C3orf77 UCSF GRCh37 3 44285367 44285367 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 23 116 0 ENST00000309765.4:c.1369C>T p.Pro457Ser p.P457S ENST00000309765 NM_001145030.1 457 Cct/Tct 0 -C3orf77 UCSF GRCh37 3 44286639 44286639 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 39 85 0 ENST00000309765.4:c.2641G>A p.Glu881Lys p.E881K ENST00000309765 NM_001145030.1 881 Gag/Aag 0 -C4orf19 UCSF GRCh37 4 37592527 37592527 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 24 44 0 ENST00000284437.6:c.850G>A p.Asp284Asn p.D284N ENST00000284437 NM_018302.2 284 Gat/Aat 0 -C4orf6 UCSF GRCh37 4 5527144 5527144 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 26 38 0 ENST00000195455.2:c.87G>A p.Gly29= p.G29= ENST00000195455 NM_005750.2 29 ggG/ggA 0 -C5 UCSF GRCh37 9 123734242 123734242 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 16 43 0 ENST00000223642.1:c.4046G>A p.Ser1349Asn p.S1349N ENST00000223642 NM_001735.2 1349 aGt/aAt 0 -C5 UCSF GRCh37 9 123783936 123783936 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 112 48 83 0 ENST00000223642.1:c.1153G>A p.Gly385Arg p.G385R ENST00000223642 NM_001735.2 385 Gga/Aga 0 -C5orf42 UCSF GRCh37 5 37125417 37125417 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 118 32 142 0 ENST00000425232.2:c.8725G>A p.Ala2909Thr p.A2909T ENST00000425232 NM_023073.3 2909 Gca/Aca 0 -C5orf43 UCSF GRCh37 5 60455983 60455983 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 16 73 0 ENST00000339020.3:c.16G>A p.Ala6Thr p.A6T ENST00000339020 NM_001048249.3 6 Gct/Act 0 -C6orf204 UCSF GRCh37 6 118832578 118832578 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 26 76 1 ENST00000368491.3:c.1140G>A p.Arg380= p.R380= ENST00000368491 NM_001042475.2 380 cgG/cgA 0 -C6orf58 UCSF GRCh37 6 127899845 127899845 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 83 46 101 0 ENST00000329722.7:c.316C>T p.Pro106Ser p.P106S ENST00000329722 NM_001010905.2 106 Cca/Tca 0 -C7 UCSF GRCh37 5 40958327 40958327 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 29 68 0 ENST00000313164.9:c.1453G>A p.Ala485Thr p.A485T ENST00000313164 NM_000587.2 485 Gcg/Acg 0 -C7 UCSF GRCh37 5 40979915 40979915 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 73 18 69 0 ENST00000313164.9:c.2254G>A p.Gly752Ser p.G752S ENST00000313164 NM_000587.2 752 Ggt/Agt 0 -C7orf42 UCSF GRCh37 7 66416123 66416123 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 29 29 0 ENST00000341567.4:c.780+1G>A p.X260_splice ENST00000341567 NM_017994.4 0 -SPACDR UCSF GRCh37 7 100061155 100061155 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 20 39 0 ENST00000332375.3:c.218C>T p.Ser73Phe p.S73F ENST00000332375 NM_001004323.1 73 tCc/tTc 0 -C8B UCSF GRCh37 1 57395081 57395081 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 20 46 0 ENST00000371237.4:c.1772C>T p.Ser591Phe p.S591F ENST00000371237 NM_000066.3 591 tCc/tTc 0 -C9orf102 UCSF GRCh37 9 98678678 98678678 + missense_variant Missense_Mutation SNP A A T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 28 71 0 ENST00000288985.7:c.1153A>T p.Thr385Ser p.T385S ENST00000288985 NM_001010895.2 385 Act/Tct 0 -CFAP95 UCSF GRCh37 9 72435886 72435886 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 21 10 16 0 ENST00000377197.3:c.91G>A p.Gly31Ser p.G31S ENST00000377197 NM_001010940.1 31 Ggc/Agc 0 -C9orf79 UCSF GRCh37 9 90500676 90500676 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 33 62 0 ENST00000325643.5:c.1274C>T p.Ala425Val p.A425V ENST00000325643 NM_178828.4 425 gCc/gTc 0 -CA13 UCSF GRCh37 8 86171690 86171690 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 6 76 0 ENST00000321764.3:c.276G>A p.Arg92= p.R92= ENST00000321764 NM_198584.2 92 cgG/cgA 0 -CABIN1 UCSF GRCh37 22 24468334 24468334 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 10 15 0 ENST00000263119.5:c.2506G>A p.Glu836Lys p.E836K ENST00000263119 NM_012295.3 836 Gag/Aag 0 -CABYR UCSF GRCh37 18 21739906 21739906 + 3_prime_UTR_variant,NMD_transcript_variant 3'UTR SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 72 135 0 ENST00000463087.1:c.*487G>A *163* ENST00000463087 0 -CACNA1B UCSF GRCh37 9 140811728 140811728 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 96 23 43 0 ENST00000371372.1:c.811G>A p.Glu271Lys p.E271K ENST00000371372 NM_001243812.1 271 Gag/Aag 0 -CACNA1H UCSF GRCh37 16 1262081 1262081 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 19 31 0 ENST00000348261.5:c.4702G>A p.Glu1568Lys p.E1568K ENST00000348261 NM_021098.2 1568 Gag/Aag 0 -CACNA2D1 UCSF GRCh37 7 81636994 81636994 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 5 30 0 ENST00000356253.5:c.1440+1G>A p.X480_splice ENST00000356253 0 -CACNA2D3 UCSF GRCh37 3 54871232 54871232 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 120 39 92 0 ENST00000288197.5:c.1445C>T p.Pro482Leu p.P482L ENST00000288197 482 cCt/cTt 0 -CACNA2D3 UCSF GRCh37 3 54786625 54786625 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 73 24 39 0 ENST00000288197.5:c.1168-1G>A p.X390_splice ENST00000288197 0 -CACNA2D3 UCSF GRCh37 3 55108230 55108230 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 83 29 58 0 ENST00000288197.5:c.3273G>A p.Arg1091= p.R1091= ENST00000288197 1091 agG/agA 0 -CACNB4 UCSF GRCh37 2 152830192 152830192 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 66 18 66 0 ENST00000539935.1:c.148-90308C>T *50* ENST00000539935 NM_001145798.1 0 -CAD UCSF GRCh37 2 27454858 27454858 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 21 49 0 ENST00000264705.4:c.2411C>T p.Thr804Ile p.T804I ENST00000264705 NM_004341.3 804 aCt/aTt 0 -CALML4 UCSF GRCh37 15 68497602 68497602 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 4 36 0 ENST00000467889.1:c.113G>A p.Ser38Asn p.S38N ENST00000467889 NM_033429.2 38 aGc/aAc 0 -CAMK2D UCSF GRCh37 4 114458538 114458538 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 29 87 0 ENST00000342666.5:c.476G>A p.Gly159Asp p.G159D ENST00000342666 159 gGc/gAc 0 -CAMSAP3 UCSF GRCh37 19 7673051 7673051 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 4 10 0 ENST00000160298.4:c.661C>T p.Pro221Ser p.P221S ENST00000160298 NM_020902.1 221 Ccc/Tcc 0 -CAPN9 UCSF GRCh37 1 230883271 230883271 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 23 25 0 ENST00000271971.2:c.29C>T p.Pro10Leu p.P10L ENST00000271971 NM_006615.2 10 cCt/cTt 0 -CAPS2 UCSF GRCh37 12 75715268 75715268 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 44 133 0 ENST00000409445.3:c.437G>A p.Gly146Asp p.G146D ENST00000409445 NM_032606.3 146 gGc/gAc 0 -CARM1 UCSF GRCh37 19 11018797 11018797 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 5 26 0 ENST00000327064.4:c.429G>A p.Glu143= p.E143= ENST00000327064 NM_199141.1 143 gaG/gaA 0 -CASC1 UCSF GRCh37 12 25308335 25308335 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 18 49 0 ENST00000320267.9:c.192G>A p.Arg64= p.R64= ENST00000320267 NM_001082973.1 64 agG/agA 0 -CASKIN2 UCSF GRCh37 17 73499335 73499335 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 8 16 0 ENST00000321617.3:c.1820G>A p.Gly607Glu p.G607E ENST00000321617 NM_020753.4 607 gGg/gAg 0 -CASP7 UCSF GRCh37 10 115489265 115489265 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 18 34 0 ENST00000345633.4:c.878C>T p.Ser293Phe p.S293F ENST00000345633 NM_033339.4 293 tCc/tTc 0 -CASP8 UCSF GRCh37 2 202134309 202134309 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 7 35 0 ENST00000432109.2:c.306-1930G>A *102* ENST00000432109 NM_033355.3 0 -CASP8AP2 UCSF GRCh37 6 90573777 90573777 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 63 182 0 ENST00000551025.1:n.3786C>T *1262* ENST00000551025 0 -CASP8AP2 UCSF GRCh37 6 90575760 90575760 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 4 32 65 0 ENST00000551025.1:n.4188C>T *1396* ENST00000551025 0 -CASZ1 UCSF GRCh37 1 10713516 10713516 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 6 12 0 ENST00000377022.3:c.2598C>T p.Ile866= p.I866= ENST00000377022 NM_001079843.2 866 atC/atT 0 -CATSPER2 UCSF GRCh37 15 43931847 43931847 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 11 105 0 ENST00000321596.5:c.711C>T p.Ala237= p.A237= ENST00000321596 237 gcC/gcT 0 -CBL UCSF GRCh37 11 119167732 119167732 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 39 30 42 0 ENST00000264033.4:c.2141C>T p.Ser714Phe p.S714F ENST00000264033 NM_005188.3 714 tCc/tTc 0 -CBLL1 UCSF GRCh37 7 107389382 107389382 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 131 23 91 0 ENST00000440859.3:c.71G>A p.Arg24Lys p.R24K ENST00000440859 NM_024814.2 24 aGa/aAa 0 -CBS UCSF GRCh37 21 44483181 44483181 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 14 17 0 ENST00000352178.5:c.836G>A p.Gly279Glu p.G279E ENST00000352178 NM_001178008.1 279 gGg/gAg 0 -CBX1 UCSF GRCh37 17 46154300 46154300 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 48 79 0 ENST00000225603.4:c.67G>A p.Val23Met p.V23M ENST00000225603 NM_001127228.1 23 Gtg/Atg 0 -CBX1 UCSF GRCh37 17 46153494 46153494 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 25 39 0 ENST00000225603.4:c.187C>T p.Leu63Phe p.L63F ENST00000225603 NM_001127228.1 63 Ctc/Ttc 0 -CC2D1A UCSF GRCh37 19 14038004 14038004 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 8 21 0 ENST00000318003.7:c.2242G>A p.Asp748Asn p.D748N ENST00000318003 NM_017721.4 748 Gac/Aac 0 -CC2D1A UCSF GRCh37 19 14037861 14037861 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 12 24 0 ENST00000318003.7:c.2196G>A p.Lys732= p.K732= ENST00000318003 NM_017721.4 732 aaG/aaA 0 -CC2D2A UCSF GRCh37 4 15565134 15565134 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 7 41 0 ENST00000424120.1:c.3171G>A p.Lys1057= p.K1057= ENST00000424120 1057 aaG/aaA 0 -CCDC108 UCSF GRCh37 2 219896288 219896288 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 25 54 0 ENST00000341552.5:c.738C>T p.Cys246= p.C246= ENST00000341552 NM_194302.3 246 tgC/tgT 0 -CCDC116 UCSF GRCh37 22 21990936 21990936 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 24 31 0 ENST00000292779.3:c.1419G>A p.Arg473= p.R473= ENST00000292779 NM_152612.2 473 agG/agA 0 -CCDC135 UCSF GRCh37 16 57734080 57734080 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 41 56 0 ENST00000360716.3:c.402G>A p.Arg134= p.R134= ENST00000360716 134 cgG/cgA 0 -CCDC165 UCSF GRCh37 18 8825043 8825043 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 5 11 0 ENST00000306329.11:c.4492C>T p.Leu1498= p.L1498= ENST00000306329 1498 Ctg/Ttg 0 -CCDC17 UCSF GRCh37 1 46087995 46087995 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 5 32 0 ENST00000528266.1:c.885G>A p.Glu295= p.E295= ENST00000528266 295 gaG/gaA 0 -CCDC82 UCSF GRCh37 11 96117446 96117446 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 150 30 134 0 ENST00000278520.5:c.466G>A p.Glu156Lys p.E156K ENST00000278520 156 Gag/Aag 0 -CCDC93 UCSF GRCh37 2 118766140 118766140 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 47 147 0 ENST00000376300.2:c.137G>A p.Gly46Asp p.G46D ENST00000376300 NM_019044.4 46 gGc/gAc 0 -CCHCR1 UCSF GRCh37 6 31118537 31118537 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 127 50 74 0 ENST00000376266.5:c.799G>A p.Glu267Lys p.E267K ENST00000376266 NM_019052.3 267 Gaa/Aaa 0 -CCNA1 UCSF GRCh37 13 37014243 37014243 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 105 25 124 0 ENST00000255465.4:c.1021G>A p.Val341Ile p.V341I ENST00000255465 341 Gta/Ata 0 -CCNH UCSF GRCh37 5 86700720 86700720 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 34 95 0 ENST00000256897.4:c.630C>T p.Ser210= p.S210= ENST00000256897 NM_001239.3 210 tcC/tcT 0 -CCP110 UCSF GRCh37 16 19548215 19548215 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 40 128 0 ENST00000381396.5:c.1224G>A p.Met408Ile p.M408I ENST00000381396 NM_001199022.1 408 atG/atA 0 -CD163 UCSF GRCh37 12 7637880 7637880 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 14 77 0 ENST00000359156.4:c.2591G>A p.Cys864Tyr p.C864Y ENST00000359156 NM_004244.5 864 tGc/tAc 0 -CD180 UCSF GRCh37 5 66478865 66478865 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 11 90 0 ENST00000256447.4:c.1806G>A p.Ser602= p.S602= ENST00000256447 NM_005582.2 602 tcG/tcA 0 -CD1D UCSF GRCh37 1 158151967 158151967 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 152 19 164 0 ENST00000368171.3:c.474G>A p.Trp158Ter p.W158* ENST00000368171 NM_001766.3 158 tgG/tgA 0 -CD209 UCSF GRCh37 19 7810855 7810855 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 91 58 74 0 ENST00000315599.7:c.297G>A p.Glu99= p.E99= ENST00000315599 NM_021155.3 99 gaG/gaA 0 -CD82 UCSF GRCh37 11 44640606 44640606 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 14 15 0 ENST00000227155.4:c.734G>A p.Gly245Glu p.G245E ENST00000227155 NM_002231.3 245 gGg/gAg 0 -CDAN1 UCSF GRCh37 15 43020446 43020446 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 15 24 0 ENST00000356231.3:c.2824C>T p.Pro942Ser p.P942S ENST00000356231 NM_138477.2 942 Cct/Tct 0 -CDCP2 UCSF GRCh37 1 54605765 54605765 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 8 14 0 ENST00000371330.1:c.778G>A p.Val260Ile p.V260I ENST00000371330 NM_201546.3 260 Gta/Ata 0 -CDH10 UCSF GRCh37 5 24537507 24537507 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 134 21 165 0 ENST00000264463.4:c.508C>T p.Pro170Ser p.P170S ENST00000264463 NM_006727.3 170 Ccc/Tcc 0 -CDH16 UCSF GRCh37 16 66944378 66944378 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 4 31 0 ENST00000299752.4:c.1952C>T p.Pro651Leu p.P651L ENST00000299752 NM_001204744.1 651 cCc/cTc 0 -CDH7 UCSF GRCh37 18 63511133 63511133 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 83 20 110 0 ENST00000323011.3:c.1067G>A p.Gly356Asp p.G356D ENST00000323011 NM_033646.1 356 gGt/gAt 0 -CDK11B UCSF GRCh37 1 1572140 1572140 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 28 43 0 ENST00000407249.3:c.1830C>T p.Asp610= p.D610= ENST00000407249 610 gaC/gaT 0 -CDK13 UCSF GRCh37 7 40134284 40134284 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 56 48 87 0 ENST00000181839.4:c.4244G>A p.Gly1415Asp p.G1415D ENST00000181839 NM_031267.3 1415 gGt/gAt 0 -CDK13 UCSF GRCh37 7 40134455 40134455 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 25 63 0 ENST00000181839.4:c.4415G>A p.Gly1472Asp p.G1472D ENST00000181839 NM_031267.3 1472 gGc/gAc 0 -CDKL3 UCSF GRCh37 5 133702168 133702168 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 81 17 76 0 ENST00000265334.4:c.47G>A p.Gly16Glu p.G16E ENST00000265334 NM_001113575.1 16 gGa/gAa 0 -CDKL5 UCSF GRCh37 X 18606251 18606251 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 6 54 66 0 ENST00000379989.3:c.732C>T p.Phe244= p.F244= ENST00000379989 NM_001037343.1 244 ttC/ttT 0 -CDR2L UCSF GRCh37 17 72997562 72997562 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 3 13 0 ENST00000337231.5:c.319G>A p.Ala107Thr p.A107T ENST00000337231 NM_014603.2 107 Gct/Act 0 -CECR2 UCSF GRCh37 22 17978518 17978518 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 10 96 0 ENST00000342247.5:c.356G>A p.Gly119Glu p.G119E ENST00000342247 119 gGa/gAa 0 -CELF2 UCSF GRCh37 10 11312703 11312703 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 18 27 0 ENST00000416382.2:c.672G>A p.Gln224= p.Q224= ENST00000416382 224 caG/caA 0 -CELF4 UCSF GRCh37 18 34850818 34850818 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.0041 P01_Rec Untested WXS Illumina HiSeq 15 14 17 0 ENST00000420428.2:c.1012G>A p.Val338Met p.V338M ENST00000420428 NM_020180.3 338 Gtg/Atg 0 -CELF4 UCSF GRCh37 18 34854413 34854413 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 8 24 0 ENST00000420428.2:c.662C>T p.Ala221Val p.A221V ENST00000420428 NM_020180.3 221 gCc/gTc 0 -CELSR1 UCSF GRCh37 22 46807624 46807624 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 11 42 0 ENST00000262738.3:c.4644G>A p.Gly1548= p.G1548= ENST00000262738 NM_014246.1 1548 ggG/ggA 0 -CELSR1 UCSF GRCh37 22 46931463 46931463 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 22 32 0 ENST00000262738.3:c.1605G>A p.Lys535= p.K535= ENST00000262738 NM_014246.1 535 aaG/aaA 0 -CELSR2 UCSF GRCh37 1 109795561 109795561 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 30 41 0 ENST00000271332.3:c.2860G>A p.Ala954Thr p.A954T ENST00000271332 NM_001408.2 954 Gcc/Acc 0 -CELSR2 UCSF GRCh37 1 109805763 109805763 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 16 20 0 ENST00000271332.3:c.4709-1G>A p.X1570_splice ENST00000271332 NM_001408.2 0 -CELSR2 UCSF GRCh37 1 109807557 109807557 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 25 51 0 ENST00000271332.3:c.5532C>T p.Thr1844= p.T1844= ENST00000271332 NM_001408.2 1844 acC/acT 0 -CENPC1 UCSF GRCh37 4 68378153 68378153 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 92 21 158 0 ENST00000273853.6:c.1579C>T p.Pro527Ser p.P527S ENST00000273853 NM_001812.2 527 Cca/Tca 0 -CENPJ UCSF GRCh37 13 25457353 25457353 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 76 36 131 0 ENST00000381884.4:c.3979G>A p.Asp1327Asn p.D1327N ENST00000381884 NM_018451.4 1327 Gac/Aac 0 -CEP104 UCSF GRCh37 1 3740108 3740108 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 31 69 0 ENST00000378230.3:c.2383C>T p.Leu795= p.L795= ENST00000378230 NM_014704.3 795 Ctg/Ttg 0 -CEP112 UCSF GRCh37 17 63898345 63898345 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 23 79 0 ENST00000392769.2:c.2088C>T p.Asn696= p.N696= ENST00000392769 NM_145036.3 696 aaC/aaT 0 -CEP95 UCSF GRCh37 17 62504709 62504709 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 153 24 145 0 ENST00000556440.2:c.20-1G>A p.X7_splice ENST00000556440 NM_138363.1 0 -CES2 UCSF GRCh37 16 66975428 66975428 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 7 32 0 ENST00000317091.4:c.1127G>A p.Gly376Glu p.G376E ENST00000317091 NM_003869.5 376 gGa/gAa 0 -CES3 UCSF GRCh37 16 66997748 66997748 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 4 14 0 ENST00000303334.4:c.470C>T p.Ala157Val p.A157V ENST00000303334 NM_024922.5 157 gCc/gTc 0 -CES3 UCSF GRCh37 16 66997711 66997711 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 11 24 0 ENST00000303334.4:c.433G>A p.Val145Ile p.V145I ENST00000303334 NM_024922.5 145 Gta/Ata 0 -CES3 UCSF GRCh37 16 67006758 67006758 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 24 56 0 ENST00000303334.4:c.1522G>A p.Asp508Asn p.D508N ENST00000303334 NM_024922.5 508 Gac/Aac 0 -CETN1 UCSF GRCh37 18 580808 580808 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 84 11 30 0 ENST00000327228.3:c.400G>A p.Gly134Arg p.G134R ENST00000327228 NM_004066.1 134 Ggg/Agg 0 -CFDP1 UCSF GRCh37 16 75338931 75338931 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 88 46 144 0 ENST00000283882.3:c.800G>A p.Gly267Glu p.G267E ENST00000283882 NM_006324.2 267 gGg/gAg 0 -CFH UCSF GRCh37 1 196695721 196695721 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 26 106 0 ENST00000367429.4:c.1995G>A p.Met665Ile p.M665I ENST00000367429 NM_000186.3 665 atG/atA 0 -CHAD UCSF GRCh37 17 48545744 48545744 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 3 20 0 ENST00000258969.4:c.431C>T p.Ser144Phe p.S144F ENST00000258969 144 tCc/tTc 0 -CHD3 UCSF GRCh37 17 7798765 7798765 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P01_Rec Untested WXS Illumina HiSeq 17 0 ENST00000330494.7:c.1618delC p.Arg540ValfsTer16 p.R540Vfs*16 ENST00000330494 NM_001005273.2 538 Ccc/cc 0 -CHI3L1 UCSF GRCh37 1 203154428 203154428 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 8 32 0 ENST00000255409.3:c.141C>T p.Asp47= p.D47= ENST00000255409 NM_001276.2 47 gaC/gaT 0 -CHIA UCSF GRCh37 1 111863037 111863037 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 5 42 0 ENST00000343320.6:c.1380C>T p.Cys460= p.C460= ENST00000343320 460 tgC/tgT 0 -CHST4 UCSF GRCh37 16 71570829 71570829 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 17 41 0 ENST00000338482.5:c.249G>A p.Lys83= p.K83= ENST00000338482 83 aaG/aaA 0 -CHST5 UCSF GRCh37 16 75563991 75563991 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 9 19 0 ENST00000336257.3:c.292G>A p.Val98Met p.V98M ENST00000336257 NM_024533.4 98 Gtg/Atg 0 -CIITA UCSF GRCh37 16 11000510 11000510 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 7 10 0 ENST00000324288.8:c.1161G>A p.Trp387Ter p.W387* ENST00000324288 NM_000246.3 387 tgG/tgA 0 -CKAP5 UCSF GRCh37 11 46772992 46772992 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 51 84 0 ENST00000529230.1:c.5226C>T p.Val1742= p.V1742= ENST00000529230 1742 gtC/gtT 0 -CKM UCSF GRCh37 19 45821138 45821138 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 3 12 25 0 ENST00000221476.3:c.293G>A p.Gly98Glu p.G98E ENST00000221476 NM_001824.4 98 gGg/gAg 0 -CLASP1 UCSF GRCh37 2 122125250 122125250 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 60 32 63 0 ENST00000263710.4:c.3800A>G p.Tyr1267Cys p.Y1267C ENST00000263710 NM_015282.2 1267 tAc/tGc 0 -CLCN6 UCSF GRCh37 1 11888662 11888662 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 13 67 0 ENST00000346436.6:c.1102C>T p.Pro368Ser p.P368S ENST00000346436 NM_001286.3 368 Ccg/Tcg 0 -CLCN7 UCSF GRCh37 16 1511666 1511666 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 5 9 0 ENST00000382745.4:c.223C>T p.Pro75Ser p.P75S ENST00000382745 NM_001287.5 75 Cct/Tct 0 -CLCNKB UCSF GRCh37 1 16377381 16377381 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 7 9 16 0 ENST00000375679.4:c.1065G>A p.Lys355= p.K355= ENST00000375679 NM_000085.4 355 aaG/aaA 0 -CLDN12 UCSF GRCh37 7 90042263 90042263 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 95 29 65 0 ENST00000287916.4:c.273C>T p.Pro91= p.P91= ENST00000287916 NM_001185073.2 91 ccC/ccT 0 -CLEC16A UCSF GRCh37 16 11272435 11272435 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 8 20 0 ENST00000409790.1:c.3050G>A p.Ser1017Asn p.S1017N ENST00000409790 NM_015226.2 1017 aGc/aAc 0 -CLEC4M UCSF GRCh37 19 7831562 7831562 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 18 29 0 ENST00000327325.5:c.805C>T p.Pro269Ser p.P269S ENST00000327325 NM_001144909.1 269 Ccc/Tcc 0 -CLMN UCSF GRCh37 14 95669764 95669764 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 25 53 0 ENST00000298912.4:c.1922G>A p.Gly641Asp p.G641D ENST00000298912 NM_024734.3 641 gGc/gAc 0 -CLN6 UCSF GRCh37 15 68500543 68500543 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 14 26 0 ENST00000249806.5:c.871C>T p.Pro291Ser p.P291S ENST00000249806 NM_017882.2 291 Ccg/Tcg 0 -CLN8 UCSF GRCh37 8 1719420 1719420 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 4 32 0 ENST00000331222.4:c.200C>T p.Ala67Val p.A67V ENST00000331222 NM_018941.3 67 gCg/gTg 0 -CLNK UCSF GRCh37 4 10566344 10566344 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 64 62 100 0 ENST00000226951.6:c.350C>T p.Ser117Phe p.S117F ENST00000226951 NM_052964.2 117 tCt/tTt 0 -CLTCL1 UCSF GRCh37 22 19187248 19187248 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 11 49 0 ENST00000427926.1:c.3870C>T p.Tyr1290= p.Y1290= ENST00000427926 1290 taC/taT 0 -CMYA5 UCSF GRCh37 5 79034707 79034707 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 105 35 98 0 ENST00000446378.2:c.10119C>T p.Val3373= p.V3373= ENST00000446378 NM_153610.3 3373 gtC/gtT 0 -CNGA3 UCSF GRCh37 2 99008330 99008330 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 8 24 0 ENST00000272602.2:c.570C>T p.Ala190= p.A190= ENST00000272602 190 gcC/gcT 0 -CNTD1 UCSF GRCh37 17 40961508 40961508 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 26 43 0 ENST00000588408.1:c.948C>T p.His316= p.H316= ENST00000588408 NM_173478.2 316 caC/caT 0 -CNTNAP2 UCSF GRCh37 7 148106483 148106483 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 27 51 0 ENST00000361727.3:c.3716C>T p.Ala1239Val p.A1239V ENST00000361727 NM_014141.5 1239 gCc/gTc 0 -CNTNAP5 UCSF GRCh37 2 125367388 125367388 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 95 17 69 0 ENST00000431078.1:c.1764G>A p.Glu588= p.E588= ENST00000431078 NM_130773.3 588 gaG/gaA 0 -COASY UCSF GRCh37 17 40715185 40715185 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 13 29 0 ENST00000393818.2:c.545G>A p.Gly182Glu p.G182E ENST00000393818 NM_025233.6 182 gGg/gAg 0 -COASY UCSF GRCh37 17 40717701 40717701 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 3 19 0 ENST00000393818.2:c.1510G>A p.Asp504Asn p.D504N ENST00000393818 NM_025233.6 504 Gat/Aat 0 -COG1 UCSF GRCh37 17 71193510 71193510 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 7 48 0 ENST00000299886.4:c.888G>A p.Glu296= p.E296= ENST00000299886 NM_018714.2 296 gaG/gaA 0 -COG5 UCSF GRCh37 7 107167779 107167779 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 10 25 0 ENST00000347053.3:c.534G>A p.Arg178= p.R178= ENST00000347053 NM_181733.2 178 agG/agA 0 -COL10A1 UCSF GRCh37 6 116442681 116442681 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 12 62 0 ENST00000243222.4:c.598G>A p.Gly200Ser p.G200S ENST00000243222 NM_000493.3 200 Ggt/Agt 0 -COL11A1 UCSF GRCh37 1 103412473 103412473 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 14 4 18 0 ENST00000370096.3:c.3208C>T p.Pro1070Ser p.P1070S ENST00000370096 NM_001854.3 1070 Cca/Tca 0 -COL11A1 UCSF GRCh37 1 103354311 103354311 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 38 78 0 ENST00000370096.3:c.4522C>T p.Pro1508Ser p.P1508S ENST00000370096 NM_001854.3 1508 Cct/Tct 0 -COL17A1 UCSF GRCh37 10 105795079 105795079 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 3 8 0 ENST00000353479.5:c.3561G>A p.Gly1187= p.G1187= ENST00000353479 NM_000494.3 1187 ggG/ggA 0 -COL19A1 UCSF GRCh37 6 70639353 70639353 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 7 18 64 0 ENST00000322773.4:c.427G>A p.Glu143Lys p.E143K ENST00000322773 NM_001858.4 143 Gaa/Aaa 0 -COL25A1 UCSF GRCh37 4 109753579 109753579 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 10 54 0 ENST00000399132.1:c.1667G>A p.Gly556Asp p.G556D ENST00000399132 NM_198721.2 556 gGt/gAt 0 -COL27A1 UCSF GRCh37 9 116931127 116931127 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 120 38 99 0 ENST00000356083.3:c.1292G>A p.Gly431Glu p.G431E ENST00000356083 NM_032888.2 431 gGa/gAa 0 -COL27A1 UCSF GRCh37 9 117029826 117029826 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 7 14 0 ENST00000356083.3:c.3490G>A p.Ala1164Thr p.A1164T ENST00000356083 NM_032888.2 1164 Gcc/Acc 0 -COL4A1 UCSF GRCh37 13 110826345 110826345 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 15 30 0 ENST00000375820.4:c.3407G>A p.Gly1136Asp p.G1136D ENST00000375820 NM_001845.4 1136 gGt/gAt 0 -COL4A3 UCSF GRCh37 2 228134689 228134689 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 15 70 0 ENST00000396578.3:c.1568G>A p.Gly523Glu p.G523E ENST00000396578 NM_000091.4 523 gGa/gAa 0 -COL4A4 UCSF GRCh37 2 227979410 227979410 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 83 19 83 0 ENST00000396625.3:c.492C>T p.Gly164= p.G164= ENST00000396625 NM_000092.4 164 ggC/ggT 0 -COL4A6 UCSF GRCh37 X 107408677 107408677 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 14 23 0 ENST00000372216.4:c.3734C>T p.Ala1245Val p.A1245V ENST00000372216 NM_001847.2 1245 gCc/gTc 0 -COL5A1 UCSF GRCh37 9 137642402 137642402 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 8 25 0 ENST00000371817.3:c.1509C>T p.Arg503= p.R503= ENST00000371817 NM_001278074.1 503 cgC/cgT 0 -COL6A3 UCSF GRCh37 2 238253370 238253370 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 28 38 0 ENST00000295550.4:c.7291G>A p.Asp2431Asn p.D2431N ENST00000295550 NM_004369.3 2431 Gac/Aac 0 -COL6A3 UCSF GRCh37 2 238287287 238287287 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 11 52 0 ENST00000295550.4:c.2489C>T p.Ala830Val p.A830V ENST00000295550 NM_004369.3 830 gCt/gTt 0 -COPS2 UCSF GRCh37 15 49437259 49437259 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 40 44 93 0 ENST00000388901.5:c.71G>A p.Ser24Asn p.S24N ENST00000388901 NM_001143887.1 24 aGt/aAt 0 -CORIN UCSF GRCh37 4 47605463 47605463 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 6 26 0 ENST00000273857.4:c.2763G>A p.Glu921= p.E921= ENST00000273857 NM_006587.3 921 gaG/gaA 0 -CPA2 UCSF GRCh37 7 129917712 129917712 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 5 19 0 ENST00000222481.4:c.743G>A p.Cys248Tyr p.C248Y ENST00000222481 NM_001869.2 248 tGt/tAt 0 -CPAMD8 UCSF GRCh37 19 17007002 17007002 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 3 9 0 ENST00000443236.1:c.5552G>A p.Gly1851Glu p.G1851E ENST00000443236 NM_015692.2 1851 gGg/gAg 0 -CPAMD8 UCSF GRCh37 19 17100452 17100452 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 7 23 0 ENST00000443236.1:c.1536+1G>A p.X512_splice ENST00000443236 NM_015692.2 0 -CPEB2 UCSF GRCh37 4 15009220 15009220 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 23 54 0 ENST00000507071.1:c.633+10G>A *211* ENST00000507071 0 -CPEB4 UCSF GRCh37 5 173378942 173378942 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 32 122 0 ENST00000265085.5:c.1780+1G>A p.X594_splice ENST00000265085 NM_030627.2 0 -CPNE3 UCSF GRCh37 8 87558910 87558910 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 75 61 136 0 ENST00000198765.4:c.819+1G>A p.X273_splice ENST00000198765 0 -CPNE4 UCSF GRCh37 3 131624151 131624151 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 6 57 0 ENST00000429747.1:c.137C>T p.Pro46Leu p.P46L ENST00000429747 NM_130808.1 46 cCc/cTc 0 -CPSF3 UCSF GRCh37 2 9583672 9583672 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 179 20 171 0 ENST00000238112.3:c.1124C>T p.Thr375Ile p.T375I ENST00000238112 NM_016207.3 375 aCt/aTt 0 -CPSF6 UCSF GRCh37 12 69652471 69652471 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 39 51 0 ENST00000435070.2:c.796C>T p.Pro266Ser p.P266S ENST00000435070 NM_007007.2 266 Cct/Tct 0 -CPSF7 UCSF GRCh37 11 61183722 61183722 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 24 31 0 ENST00000394888.4:c.820C>T p.Pro274Ser p.P274S ENST00000394888 NM_001136040.2 274 Cct/Tct 0 -CPT1A UCSF GRCh37 11 68574938 68574938 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 6 19 0 ENST00000265641.5:c.450G>A p.Trp150Ter p.W150* ENST00000265641 NM_001876.3 150 tgG/tgA 0 -CPT1B UCSF GRCh37 22 51011961 51011961 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 23 4 29 0 ENST00000312108.7:c.1154C>T p.Thr385Ile p.T385I ENST00000312108 NM_152246.2 385 aCt/aTt 0 -CPT1B UCSF GRCh37 22 51012002 51012002 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 6 20 0 ENST00000312108.7:c.1113C>T p.Pro371= p.P371= ENST00000312108 NM_152246.2 371 ccC/ccT 0 -CPT1B UCSF GRCh37 22 51010435 51010435 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 13 27 0 ENST00000312108.7:c.1575G>A p.Gln525= p.Q525= ENST00000312108 NM_152246.2 525 caG/caA 0 -CR1 UCSF GRCh37 1 207741179 207741179 + synonymous_variant Silent SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 95 11 114 0 ENST00000367051.1:c.2613T>C p.Cys871= p.C871= ENST00000367051 871 tgT/tgC 0 -CREB1 UCSF GRCh37 2 208439999 208439999 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 76 53 88 0 ENST00000432329.2:c.551C>T p.Ala184Val p.A184V ENST00000432329 NM_134442.3 184 gCc/gTc 0 -CREB3L2 UCSF GRCh37 7 137569748 137569748 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 16 53 0 ENST00000330387.6:c.1263C>T p.Ala421= p.A421= ENST00000330387 NM_194071.3 421 gcC/gcT 0 -CRIPAK UCSF GRCh37 4 1388759 1388759 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.037,snp132_rs112233131 P01_Rec Untested WXS Illumina HiSeq 65 10 26 1 ENST00000324803.4:c.460C>T p.Arg154Trp p.R154W ENST00000324803 NM_175918.3 154 Cgg/Tgg 0 -CRYZL1 UCSF GRCh37 21 34997057 34997057 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 36 96 0 ENST00000381554.3:c.76C>T p.Pro26Ser p.P26S ENST00000381554 NM_145858.2 26 Cct/Tct 0 -CSDE1 UCSF GRCh37 1 115261250 115261250 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 8 37 0 ENST00000358528.4:c.2333G>A p.Gly778Glu p.G778E ENST00000358528 NM_001007553.2 778 gGa/gAa 0 -CSRNP3 UCSF GRCh37 2 166514344 166514344 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 37 56 0 ENST00000314499.7:c.222C>T p.Tyr74= p.Y74= ENST00000314499 NM_001172173.1 74 taC/taT 0 -CST9 UCSF GRCh37 20 23586283 23586283 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 69 29 52 0 ENST00000376971.3:c.219C>T p.Val73= p.V73= ENST00000376971 NM_001008693.2 73 gtC/gtT 0 -CSTF2T UCSF GRCh37 10 53459172 53459172 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 42 92 0 ENST00000331173.4:c.138G>A p.Arg46= p.R46= ENST00000331173 NM_015235.2 46 cgG/cgA 0 -CTBP2 UCSF GRCh37 10 126683197 126683197 + missense_variant Missense_Mutation SNP T T C snp132_rs74341800 P01_Rec Untested WXS Illumina HiSeq 24 5 39 1 ENST00000337195.5:c.621A>G p.Ile207Met p.I207M ENST00000337195 NM_001329.2 207 atA/atG 0 -CTC1 UCSF GRCh37 17 8138176 8138176 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 10 28 0 ENST00000315684.8:c.1508G>A p.Gly503Glu p.G503E ENST00000315684 NM_025099.5 503 gGa/gAa 0 -CTIF UCSF GRCh37 18 46284567 46284567 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 31 41 0 ENST00000256413.3:c.862G>A p.Asp288Asn p.D288N ENST00000256413 NM_014772.2 288 Gac/Aac 0 -CTLA4 UCSF GRCh37 2 204732679 204732679 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 53 14 58 0 ENST00000302823.3:c.14G>A p.Gly5Glu p.G5E ENST00000302823 NM_005214.4 5 gGa/gAa 0 -CTNNAL1 UCSF GRCh37 9 111705105 111705105 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 91 46 75 0 ENST00000325551.4:c.2149G>A p.Glu717Lys p.E717K ENST00000325551 NM_003798.2 717 Gaa/Aaa 0 -CTNNAL1 UCSF GRCh37 9 111714757 111714757 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 8 59 0 ENST00000325551.4:c.1647G>A p.Leu549= p.L549= ENST00000325551 NM_003798.2 549 ctG/ctA 0 -CTNNB1 UCSF GRCh37 3 41279535 41279535 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 39 26 107 0 ENST00000349496.5:c.2105C>T p.Ala702Val p.A702V ENST00000349496 NM_001904.3 702 gCc/gTc 0 -CTNMT-ND1 UCSF GRCh37 11 57583390 57583390 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 10 21 0 ENST00000399050.4:c.2812G>A p.Asp938Asn p.D938N ENST00000399050 NM_001085458.1 938 Gac/Aac 0 -CTPS UCSF GRCh37 1 41450499 41450500 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 0 ENST00000372616.1:c.177dup p.Val60CysfsTer4 p.V60Cfs*4 ENST00000372616 58 gtt/gtTt 0 -CTR9 UCSF GRCh37 11 10785061 10785061 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 24 46 0 ENST00000361367.2:c.933G>A p.Gln311= p.Q311= ENST00000361367 NM_014633.3 311 caG/caA 0 -CTSL2 UCSF GRCh37 9 99797080 99797080 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 110 50 113 0 ENST00000259470.5:c.833G>A p.Gly278Asp p.G278D ENST00000259470 NM_001333.3 278 gGt/gAt 0 -CTTNBP2NL UCSF GRCh37 1 112999270 112999270 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 54 99 0 ENST00000271277.6:c.1156C>T p.Pro386Ser p.P386S ENST00000271277 NM_018704.2 386 Cca/Tca 0 -CUL4A UCSF GRCh37 13 113897333 113897333 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 48 71 0 ENST00000375440.4:c.1087C>T p.Gln363Ter p.Q363* ENST00000375440 NM_001008895.2 363 Caa/Taa 0 -CUL9 UCSF GRCh37 6 43156361 43156361 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 13 40 0 ENST00000252050.4:c.2088C>T p.Asn696= p.N696= ENST00000252050 NM_015089.2 696 aaC/aaT 0 -CXorf26 UCSF GRCh37 X 75395376 75395376 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 5 21 36 0 ENST00000373358.3:c.225C>T p.Phe75= p.F75= ENST00000373358 NM_016500.3 75 ttC/ttT 0 -CYB5RL UCSF GRCh37 1 54661173 54661173 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 3 9 0 ENST00000534324.1:c.117C>T p.Asp39= p.D39= ENST00000534324 39 gaC/gaT 0 -CYLD UCSF GRCh37 16 50810182 50810182 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 19 48 0 ENST00000311559.9:c.1015G>A p.Ala339Thr p.A339T ENST00000311559 NM_015247.2 339 Gct/Act 0 -CYP20A1 UCSF GRCh37 2 204137398 204137398 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 7 46 0 ENST00000356079.4:c.606G>A p.Trp202Ter p.W202* ENST00000356079 NM_177538.2 202 tgG/tgA 0 -CYP21A2 UCSF GRCh37 6 31974229 31974229 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 3 19 0 ENST00000342991.6:n.817G>A *273* ENST00000342991 0 -CYP26B1 UCSF GRCh37 2 72360198 72360198 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 6 19 0 ENST00000001146.2:c.1100C>T p.Pro367Leu p.P367L ENST00000001146 NM_019885.3 367 cCc/cTc 0 -CYP2A13 UCSF GRCh37 19 41594918 41594918 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 16 22 0 ENST00000330436.3:c.265G>A p.Glu89Lys p.E89K ENST00000330436 NM_000766.4 89 Gag/Aag 0 -CYP2C8 UCSF GRCh37 10 96802705 96802705 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 88 19 66 0 ENST00000371270.3:c.1091C>T p.Thr364Ile p.T364I ENST00000371270 NM_000770.3 364 aCc/aTc 0 -CYP2S1 UCSF GRCh37 19 41700576 41700576 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 10 33 0 ENST00000310054.4:c.305G>A p.Gly102Glu p.G102E ENST00000310054 NM_030622.6 102 gGa/gAa 0 -CYP3A43 UCSF GRCh37 7 99457614 99457614 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 17 82 0 ENST00000354829.2:c.1026+1G>A p.X342_splice ENST00000354829 NM_057095.2 0 -CYP4A11 UCSF GRCh37 1 47402439 47402439 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 5 27 0 ENST00000310638.4:c.407G>A p.Gly136Glu p.G136E ENST00000310638 NM_000778.3 136 gGg/gAg 0 -CYP4X1 UCSF GRCh37 1 47512236 47512236 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 12 47 0 ENST00000371901.3:c.1171C>T p.Pro391Ser p.P391S ENST00000371901 NM_178033.1 391 Cca/Tca 0 -DAGLB UCSF GRCh37 7 6472571 6472571 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 3 19 0 ENST00000297056.6:c.698G>A p.Ser233Asn p.S233N ENST00000297056 NM_139179.3 233 aGc/aAc 0 -DBH UCSF GRCh37 9 136509382 136509382 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 10 25 0 ENST00000393056.2:c.964C>T p.Pro322Ser p.P322S ENST00000393056 NM_000787.3 322 Cca/Tca 0 -DBH UCSF GRCh37 9 136522333 136522333 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 10 17 0 ENST00000393056.2:c.1704C>T p.Ser568= p.S568= ENST00000393056 NM_000787.3 568 tcC/tcT 0 -DCDC2B UCSF GRCh37 1 32674838 32674838 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 28 30 0 ENST00000409358.1:c.144G>A p.Gln48= p.Q48= ENST00000409358 NM_001099434.1 48 caG/caA 0 -DCDC5 UCSF GRCh37 11 30921143 30921143 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C G NOVEL P01_Rec Untested WXS Illumina HiSeq 133 19 142 0 ENST00000303697.4:c.772G>C p.Lys258Asn p.K258N ENST00000303697 258 aaG/aaC 0 -DCHS2 UCSF GRCh37 4 155237124 155237124 + missense_variant Missense_Mutation SNP G G T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 27 55 0 ENST00000357232.4:c.3671C>A p.Thr1224Asn p.T1224N ENST00000357232 NM_017639.3 1224 aCc/aAc 0 -DDB1 UCSF GRCh37 11 61076544 61076544 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 25 47 0 ENST00000301764.7:c.2572C>T p.Leu858= p.L858= ENST00000301764 NM_001923.4 858 Cta/Tta 0 -DDHD1 UCSF GRCh37 14 53570506 53570506 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 22 75 0 ENST00000323669.5:c.907G>A p.Glu303Lys p.E303K ENST00000323669 NM_001160148.1 303 Gaa/Aaa 0 -DDR1 UCSF GRCh37 6 30864491 30864491 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 23 43 25 0 ENST00000324771.8:c.1718A>G p.Asp573Gly p.D573G ENST00000324771 573 gAc/gGc 0 -DDX11 UCSF GRCh37 12 31256558 31256558 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 13 27 0 ENST00000545668.1:c.2579G>A p.Gly860Glu p.G860E ENST00000545668 NM_001257144.1 860 gGa/gAa 0 -DDX3X UCSF GRCh37 X 41203567 41203567 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 11 36 0 ENST00000399959.2:c.940G>A p.Glu314Lys p.E314K ENST00000399959 NM_001193417.1 314 Gaa/Aaa 0 -DDX50 UCSF GRCh37 10 70666491 70666491 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 16 68 0 ENST00000373585.3:c.112C>T p.His38Tyr p.H38Y ENST00000373585 NM_024045.1 38 Cat/Tat 0 -DDX56 UCSF GRCh37 7 44610391 44610391 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 36 45 0 ENST00000258772.5:c.976G>A p.Gly326Ser p.G326S ENST00000258772 NM_001257189.1 326 Ggc/Agc 0 -DENND2A UCSF GRCh37 7 140301329 140301329 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 34 71 0 ENST00000275884.6:c.869G>A p.Arg290Lys p.R290K ENST00000275884 290 aGg/aAg 0 -DENND2A UCSF GRCh37 7 140268573 140268573 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 23 36 0 ENST00000275884.6:c.1581G>A p.Glu527= p.E527= ENST00000275884 527 gaG/gaA 0 -DENND2C UCSF GRCh37 1 115161059 115161059 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 41 135 0 ENST00000393274.1:c.1272G>A p.Lys424= p.K424= ENST00000393274 NM_001256404.1 424 aaG/aaA 0 -DENMT-ND3 UCSF GRCh37 8 142176467 142176467 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 23 40 0 ENST00000262585.2:c.1492G>A p.Gly498Ser p.G498S ENST00000262585 NM_014957.2 498 Ggc/Agc 0 -DFNB31 UCSF GRCh37 9 117185744 117185744 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 13 20 0 ENST00000362057.3:c.1476C>T p.Asp492= p.D492= ENST00000362057 NM_001173425.1 492 gaC/gaT 0 -DGKH UCSF GRCh37 13 42799463 42799463 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 98 15 101 0 ENST00000337343.4:c.3574-3772G>A *1192* ENST00000337343 NM_178009.3 0 -DHCR24 UCSF GRCh37 1 55337053 55337053 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 10 19 0 ENST00000371269.3:c.846G>A p.Gly282= p.G282= ENST00000371269 NM_014762.3 282 ggG/ggA 0 -DIEXF UCSF GRCh37 1 210010322 210010322 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 33 77 0 ENST00000491415.2:c.828C>T p.Thr276= p.T276= ENST00000491415 NM_014388.6 276 acC/acT 0 -DIP2C UCSF GRCh37 10 410500 410500 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 3 20 0 ENST00000280886.6:c.2291G>A p.Gly764Glu p.G764E ENST00000280886 NM_014974.2 764 gGg/gAg 0 -DLAT UCSF GRCh37 11 111930758 111930758 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 43 162 0 ENST00000280346.6:c.1646G>A p.Arg549Lys p.R549K ENST00000280346 NM_001931.4 549 aGa/aAa 0 -DLC1 UCSF GRCh37 8 12957987 12957987 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 32 6 26 0 ENST00000276297.4:c.1859C>T p.Ser620Phe p.S620F ENST00000276297 NM_182643.2 620 tCc/tTc 0 -DLC1 UCSF GRCh37 8 12950182 12950182 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 20 13 37 0 ENST00000276297.4:c.3679G>A p.Val1227Met p.V1227M ENST00000276297 NM_182643.2 1227 Gtg/Atg 0 -DLG3 UCSF GRCh37 X 69720346 69720346 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 4 14 0 ENST00000374360.3:c.2171C>T p.Ser724Phe p.S724F ENST00000374360 NM_021120.3 724 tCc/tTc 0 -DLG4 UCSF GRCh37 17 7100192 7100192 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 4 15 0 ENST00000399506.2:c.967C>T p.Leu323= p.L323= ENST00000399506 323 Ctg/Ttg 0 -DLGAP1 UCSF GRCh37 18 3534464 3534464 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 6 39 0 ENST00000315677.3:c.2207C>T p.Thr736Ile p.T736I ENST00000315677 NM_004746.3 736 aCc/aTc 0 -DMD UCSF GRCh37 X 31697623 31697623 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 5 45 0 ENST00000357033.4:c.7741G>A p.Asp2581Asn p.D2581N ENST00000357033 NM_004007.2 2581 Gat/Aat 0 -DMD UCSF GRCh37 X 31893450 31893450 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 3 32 0 ENST00000357033.4:c.6953C>T p.Ala2318Val p.A2318V ENST00000357033 NM_004007.2 2318 gCt/gTt 0 -DMD UCSF GRCh37 X 32407765 32407765 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 33 59 0 ENST00000357033.4:c.4371G>A p.Lys1457= p.K1457= ENST00000357033 NM_004007.2 1457 aaG/aaA 0 -DMGDH UCSF GRCh37 5 78347287 78347287 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 27 61 0 ENST00000255189.3:c.568G>A p.Asp190Asn p.D190N ENST00000255189 NM_013391.3 190 Gat/Aat 0 -DMGDH UCSF GRCh37 5 78325822 78325822 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 18 57 0 ENST00000255189.3:c.1719C>T p.Pro573= p.P573= ENST00000255189 NM_013391.3 573 ccC/ccT 0 -DMRTC2 UCSF GRCh37 19 42355670 42355670 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 11 45 0 ENST00000269945.3:c.1010G>A p.Gly337Glu p.G337E ENST00000269945 NM_001040283.1 337 gGa/gAa 0 -DMXL1 UCSF GRCh37 5 118484522 118484522 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 105 18 104 0 ENST00000311085.8:c.3000G>A p.Trp1000Ter p.W1000* ENST00000311085 NM_005509.4 1000 tgG/tgA 0 -DNA2 UCSF GRCh37 10 70204774 70204774 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 101 25 127 0 ENST00000358410.3:c.1124G>A p.Arg375Lys p.R375K ENST00000358410 NM_001080449.2 375 aGa/aAa 0 -DNAH1 UCSF GRCh37 3 52400863 52400863 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 7 31 0 ENST00000420323.2:c.5725G>A p.Gly1909Ser p.G1909S ENST00000420323 NM_015512.4 1909 Ggc/Agc 0 -DNAH11 UCSF GRCh37 7 21609755 21609755 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 136 32 105 0 ENST00000409508.3:c.1263G>A p.Gln421= p.Q421= ENST00000409508 NM_001277115.1 421 caG/caA 0 -DNAH12 UCSF GRCh37 3 57458321 57458321 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 39 93 0 ENST00000351747.2:c.1728C>T p.Val576= p.V576= ENST00000351747 NM_178504.4 576 gtC/gtT 0 -DNAH17 UCSF GRCh37 17 76421618 76421618 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 9 5 24 0 ENST00000389840.5:c.13019C>T p.Pro4340Leu p.P4340L ENST00000389840 4340 cCc/cTc 0 -DNAH3 UCSF GRCh37 16 21132064 21132064 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 8 73 0 ENST00000261383.3:c.1696G>A p.Ala566Thr p.A566T ENST00000261383 NM_017539.1 566 Gca/Aca 0 -DNAH5 UCSF GRCh37 5 13792290 13792290 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 10 89 0 ENST00000265104.4:c.8261G>A p.Gly2754Asp p.G2754D ENST00000265104 NM_001369.2 2754 gGt/gAt 0 -DNAH8 UCSF GRCh37 6 38994438 38994438 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 19 38 0 ENST00000359357.3:c.13180C>T p.Pro4394Ser p.P4394S ENST00000359357 4394 Cct/Tct 0 -DNAH9 UCSF GRCh37 17 11550496 11550496 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 9 57 0 ENST00000262442.4:c.2078C>T p.Thr693Ile p.T693I ENST00000262442 NM_001372.3 693 aCt/aTt 0 -DNAI1 UCSF GRCh37 9 34512186 34512186 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 4 36 0 ENST00000242317.4:c.1391C>T p.Thr464Ile p.T464I ENST00000242317 NM_012144.3 464 aCt/aTt 0 -DNAJA2 UCSF GRCh37 16 47005263 47005263 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 21 72 0 ENST00000317089.5:c.360C>T p.Leu120= p.L120= ENST00000317089 NM_005880.3 120 ctC/ctT 0 -DNAJC10 UCSF GRCh37 2 183627480 183627480 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 39 86 0 ENST00000264065.7:c.2217G>A p.Gly739= p.G739= ENST00000264065 NM_018981.2 739 ggG/ggA 0 -DNAJC12 UCSF GRCh37 10 69565489 69565489 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 56 152 0 ENST00000225171.2:c.354G>A p.Lys118= p.K118= ENST00000225171 NM_021800.2 118 aaG/aaA 0 -DNAJC14 UCSF GRCh37 12 56216254 56216254 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 56 43 84 0 ENST00000317269.3:c.1801G>A p.Ala601Thr p.A601T ENST00000317269 NM_032364.5 601 Gct/Act 0 -DNAJC2 UCSF GRCh37 7 102982259 102982259 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 124 22 133 0 ENST00000379263.3:c.207G>A p.Gln69= p.Q69= ENST00000379263 NM_014377.1 69 caG/caA 0 -DNAJC4 UCSF GRCh37 11 64000195 64000195 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 19 35 0 ENST00000321685.3:c.385G>A p.Ala129Thr p.A129T ENST00000321685 NM_005528.3 129 Gca/Aca 0 -DNAJC6 UCSF GRCh37 1 65877089 65877089 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 22 62 0 ENST00000395325.3:c.2620C>T p.Leu874= p.L874= ENST00000395325 NM_014787.3 874 Ctg/Ttg 0 -DNHD1 UCSF GRCh37 11 6591862 6591862 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 4 23 0 ENST00000254579.6:c.13120G>A p.Asp4374Asn p.D4374N ENST00000254579 NM_144666.2 4374 Gat/Aat 0 -DNM1 UCSF GRCh37 9 130984532 130984532 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 13 30 0 ENST00000372923.3:c.906C>T p.Ser302= p.S302= ENST00000372923 NM_004408.2 302 agC/agT 0 -DNMT3B UCSF GRCh37 20 31386392 31386392 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 13 31 0 ENST00000328111.2:c.1617G>A p.Arg539= p.R539= ENST00000328111 NM_006892.3 539 cgG/cgA 0 -DOCK10 UCSF GRCh37 2 225639660 225639660 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 20 35 0 ENST00000258390.7:c.5975G>A p.Gly1992Glu p.G1992E ENST00000258390 NM_014689.2 1992 gGg/gAg 0 -DOCK3 UCSF GRCh37 3 51315054 51315054 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 7 17 30 0 ENST00000266037.9:c.2692G>A p.Glu898Lys p.E898K ENST00000266037 NM_004947.4 898 Gag/Aag 0 -DOCK4 UCSF GRCh37 7 111584879 111584879 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 56 94 0 ENST00000437633.1:c.831C>T p.His277= p.H277= ENST00000437633 NM_014705.3 277 caC/caT 0 -DOCK5 UCSF GRCh37 8 25257466 25257466 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 70 33 136 0 ENST00000276440.7:c.4744G>A p.Asp1582Asn p.D1582N ENST00000276440 NM_024940.6 1582 Gac/Aac 0 -DOCK9 UCSF GRCh37 13 99461624 99461624 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 7 65 0 ENST00000376460.1:c.5349G>A p.Arg1783= p.R1783= ENST00000376460 NM_015296.2 1783 cgG/cgA 0 -DOPEY2 UCSF GRCh37 21 37586854 37586854 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 66 50 116 0 ENST00000399151.3:c.1129G>A p.Gly377Arg p.G377R ENST00000399151 NM_005128.2 377 Ggg/Agg 0 -DPY19L4 UCSF GRCh37 8 95792605 95792605 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 28 90 0 ENST00000414645.2:c.1594G>A p.Ala532Thr p.A532T ENST00000414645 NM_181787.2 532 Gcc/Acc 0 -DPY19L4 UCSF GRCh37 8 95801990 95801990 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 53 148 0 ENST00000414645.2:c.2024G>A p.Gly675Asp p.G675D ENST00000414645 NM_181787.2 675 gGt/gAt 0 -DPY19L4 UCSF GRCh37 8 95800133 95800133 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 13 64 0 ENST00000414645.2:c.1860C>T p.Ile620= p.I620= ENST00000414645 NM_181787.2 620 atC/atT 0 -DR1 UCSF GRCh37 1 93819517 93819517 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 32 60 0 ENST00000370267.1:c.273G>A p.Leu91= p.L91= ENST00000370267 91 ttG/ttA 0 -DSCAML1 UCSF GRCh37 11 117352816 117352816 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 3 12 0 ENST00000321322.6:c.2601G>A p.Glu867= p.E867= ENST00000321322 NM_020693.2 867 gaG/gaA 0 -DSE UCSF GRCh37 6 116757372 116757372 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 6 39 0 ENST00000331677.3:c.1741G>A p.Glu581Lys p.E581K ENST00000331677 581 Gag/Aag 0 -DSG2 UCSF GRCh37 18 29116190 29116190 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 15 97 0 ENST00000261590.8:c.1449C>T p.Gly483= p.G483= ENST00000261590 NM_001943.3 483 ggC/ggT 0 -DSPP UCSF GRCh37 4 88533898 88533898 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 20 81 0 ENST00000282478.7:c.560C>T p.Ala187Val p.A187V ENST00000282478 187 gCt/gTt 0 -DST UCSF GRCh37 6 56382342 56382342 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 115 16 114 0 ENST00000244364.6:c.10337G>A p.Arg3446Lys p.R3446K ENST00000244364 NM_015548.4 3446 aGg/aAg 0 -DTNBP1 UCSF GRCh37 6 15523293 15523293 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 132 15 52 0 ENST00000344537.5:c.969G>A p.Glu323= p.E323= ENST00000344537 NM_001271667.1 323 gaG/gaA 0 -DUOX1 UCSF GRCh37 15 45431639 45431639 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 4 31 0 ENST00000321429.4:c.1231C>T p.Pro411Ser p.P411S ENST00000321429 NM_017434.3 411 Cca/Tca 0 -DUOX1 UCSF GRCh37 15 45454105 45454105 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 9 13 0 ENST00000321429.4:c.4026G>A p.Trp1342Ter p.W1342* ENST00000321429 NM_017434.3 1342 tgG/tgA 0 -DUOX1 UCSF GRCh37 15 45439634 45439634 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 6 8 12 0 ENST00000321429.4:c.2326C>T p.Leu776= p.L776= ENST00000321429 NM_017434.3 776 Ctg/Ttg 0 -DUOX2 UCSF GRCh37 15 45386390 45386390 + synonymous_variant Silent SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 27 11 41 0 ENST00000603300.1:c.4605G>A p.Arg1535= p.R1535= ENST00000603300 NM_014080.4 1535 agG/agA 0 -DUSP15 UCSF GRCh37 20 30452768 30452768 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 7 32 0 ENST00000278979.3:c.167C>T p.Pro56Leu p.P56L ENST00000278979 56 cCt/cTt 0 -DUSP16 UCSF GRCh37 12 12630433 12630433 + 3_prime_UTR_variant 3'UTR SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 56 33 45 0 ENST00000298573.4:c.*736G>A *246* ENST00000298573 0 -DYNC1I2 UCSF GRCh37 2 172604285 172604285 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 79 42 137 0 ENST00000397119.3:c.1804-1G>A p.X602_splice ENST00000397119 NM_001378.2 0 -DYNC2H1 UCSF GRCh37 11 103052580 103052580 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 26 3 32 0 ENST00000375735.2:c.6442T>C p.Tyr2148His p.Y2148H ENST00000375735 NM_001080463.1 2148 Tat/Cat 0 -DYRK1A UCSF GRCh37 21 38884787 38884787 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 29 104 0 ENST00000398960.2:c.2245C>T p.Pro749Ser p.P749S ENST00000398960 NM_001396.3 749 Ccc/Tcc 0 -DYRK1A UCSF GRCh37 21 38845044 38845044 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 37 87 0 ENST00000398960.2:c.69C>T p.Phe23= p.F23= ENST00000398960 NM_001396.3 23 ttC/ttT 0 -E2F3 UCSF GRCh37 6 20481556 20481556 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 193 26 134 0 ENST00000346618.3:c.625G>A p.Glu209Lys p.E209K ENST00000346618 NM_001949.4 209 Gaa/Aaa 0 -EBP UCSF GRCh37 X 48385564 48385564 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 9 29 0 ENST00000495186.1:c.360C>T p.Cys120= p.C120= ENST00000495186 NM_006579.2 120 tgC/tgT 0 -ECE1 UCSF GRCh37 1 21573749 21573749 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 8 28 0 ENST00000374893.6:c.1128G>A p.Glu376= p.E376= ENST00000374893 NM_001397.2 376 gaG/gaA 0 -EDIL3 UCSF GRCh37 5 83362330 83362330 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 11 82 0 ENST00000296591.5:c.747C>T p.Ala249= p.A249= ENST00000296591 NM_005711.4 249 gcC/gcT 0 -EFEMP2 UCSF GRCh37 11 65638811 65638811 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 15 32 0 ENST00000307998.6:c.184C>T p.Pro62Ser p.P62S ENST00000307998 NM_016938.4 62 Cct/Tct 0 -EHF UCSF GRCh37 11 34664174 34664174 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 5 26 0 ENST00000257831.3:c.-3-1G>A p.X1_splice ENST00000257831 NM_012153.5 0 -EIF2B5 UCSF GRCh37 3 183858423 183858423 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 6 52 0 ENST00000273783.3:c.1061G>A p.Ser354Asn p.S354N ENST00000273783 NM_003907.2 354 aGc/aAc 0 -EIF4ENIF1 UCSF GRCh37 22 31850321 31850321 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 11 34 0 ENST00000330125.5:c.1321G>A p.Gly441Ser p.G441S ENST00000330125 NM_019843.3 441 Ggt/Agt 0 -EIF4G1 UCSF GRCh37 3 184045073 184045073 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 4 13 19 0 ENST00000346169.2:c.3498G>A p.Arg1166= p.R1166= ENST00000346169 NM_198241.2 1166 cgG/cgA 0 -ELANE UCSF GRCh37 19 855960 855960 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 14 19 0 ENST00000263621.1:c.600G>A p.Gly200= p.G200= ENST00000263621 NM_001972.2 200 ggG/ggA 0 -ELL UCSF GRCh37 19 18572433 18572433 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 3 18 0 ENST00000262809.4:c.699C>T p.Gly233= p.G233= ENST00000262809 NM_006532.3 233 ggC/ggT 0 -ELN UCSF GRCh37 7 73450886 73450886 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 22 34 0 ENST00000358929.4:c.135G>A p.Gly45= p.G45= ENST00000358929 NM_001278939.1 45 ggG/ggA 0 -EML3 UCSF GRCh37 11 62378778 62378778 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 12 8 0 ENST00000394773.2:c.233C>T p.Pro78Leu p.P78L ENST00000394773 NM_153265.2 78 cCt/cTt 0 -EML5 UCSF GRCh37 14 89083072 89083072 + missense_variant,splice_region_variant Missense_Mutation SNP A A T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 14 73 0 ENST00000380664.5:c.5770T>A p.Phe1924Ile p.F1924I ENST00000380664 1924 Ttt/Att 0 -EMR2 UCSF GRCh37 19 14863278 14863278 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 19 25 0 ENST00000315576.3:c.1651C>T p.Leu551Phe p.L551F ENST00000315576 NM_013447.3 551 Ctc/Ttc 0 -EMR3 UCSF GRCh37 19 14748988 14748988 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 33 53 0 ENST00000253673.5:c.1413C>T p.Gly471= p.G471= ENST00000253673 NM_032571.3 471 ggC/ggT 0 -ENAM UCSF GRCh37 4 71507948 71507948 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 94 16 74 0 ENST00000396073.3:c.805C>T p.Pro269Ser p.P269S ENST00000396073 NM_031889.2 269 Ccc/Tcc 0 -ENGASE UCSF GRCh37 17 77075600 77075600 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 14 43 0 ENST00000579016.1:c.446C>T p.Pro149Leu p.P149L ENST00000579016 NM_001042573.2 149 cCc/cTc 0 -ENOX1 UCSF GRCh37 13 43987009 43987009 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 10 64 0 ENST00000261488.6:c.42C>T p.Pro14= p.P14= ENST00000261488 NM_017993.3 14 ccC/ccT 0 -ENPEP UCSF GRCh37 4 111470771 111470771 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 64 35 71 0 ENST00000265162.5:c.2313G>A p.Trp771Ter p.W771* ENST00000265162 NM_001977.3 771 tgG/tgA 0 -ENPP3 UCSF GRCh37 6 131973802 131973802 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 88 11 80 0 ENST00000357639.3:c.398G>A p.Cys133Tyr p.C133Y ENST00000357639 NM_005021.3 133 tGc/tAc 0 -ENTPD4 UCSF GRCh37 8 23297262 23297262 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 18 45 0 ENST00000358689.4:c.1049G>A p.Arg350Lys p.R350K ENST00000358689 NM_001128930.2 350 aGg/aAg 0 -EP300 UCSF GRCh37 22 41523561 41523561 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 32 82 0 ENST00000263253.7:c.977G>A p.Gly326Glu p.G326E ENST00000263253 NM_001429.3 326 gGa/gAa 0 -EPB41L4A UCSF GRCh37 5 111540139 111540139 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 39 86 0 ENST00000261486.5:c.1309C>T p.Pro437Ser p.P437S ENST00000261486 NM_022140.3 437 Cct/Tct 0 -EPCAM UCSF GRCh37 2 47601173 47601173 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 8 33 0 ENST00000263735.4:c.411G>A p.Glu137= p.E137= ENST00000263735 NM_002354.2 137 gaG/gaA 0 -EPG5 UCSF GRCh37 18 43496476 43496476 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 17 18 0 ENST00000282041.5:c.3311C>T p.Thr1104Ile p.T1104I ENST00000282041 NM_020964.2 1104 aCc/aTc 0 -EPHA10 UCSF GRCh37 1 38188718 38188718 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 3 27 0 ENST00000373048.4:c.1955G>A p.Gly652Glu p.G652E ENST00000373048 NM_001099439.1 652 gGa/gAa 0 -EPHA2 UCSF GRCh37 1 16475000 16475000 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 7 18 0 ENST00000358432.5:c.696C>T p.Asp232= p.D232= ENST00000358432 NM_004431.3 232 gaC/gaT 0 -EPHA7 UCSF GRCh37 6 93969092 93969092 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 50 43 69 0 ENST00000369303.4:c.1904T>C p.Ile635Thr p.I635T ENST00000369303 NM_004440.3 635 aTt/aCt 0 -EPHB3 UCSF GRCh37 3 184298559 184298559 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 4 27 33 0 ENST00000330394.2:c.2431G>A p.Ala811Thr p.A811T ENST00000330394 NM_004443.3 811 Gcc/Acc 0 -EPHB6 UCSF GRCh37 7 142563309 142563309 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 4 13 0 ENST00000392957.2:c.1026C>T p.Asn342= p.N342= ENST00000392957 NM_004445.4 342 aaC/aaT 0 -EPS8L3 UCSF GRCh37 1 110294697 110294697 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 15 79 0 ENST00000361965.4:c.1354G>A p.Ala452Thr p.A452T ENST00000361965 452 Gcc/Acc 0 -ERBB2 UCSF GRCh37 17 37883152 37883152 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 35 18 32 0 ENST00000269571.5:c.3055G>A p.Asp1019Asn p.D1019N ENST00000269571 1019 Gat/Aat 0 -ERBB2IP UCSF GRCh37 5 65371004 65371004 + synonymous_variant Silent SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 64 57 89 0 ENST00000284037.5:c.3909A>G p.Pro1303= p.P1303= ENST00000284037 NM_001253697.1 1303 ccA/ccG 0 -ERC2 UCSF GRCh37 3 55733445 55733445 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 162 19 95 0 ENST00000288221.6:c.2808G>A p.Gly936= p.G936= ENST00000288221 NM_015576.1 936 ggG/ggA 0 -ERCC6L UCSF GRCh37 X 71426212 71426212 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 44 38 0 ENST00000334463.3:c.2405G>A p.Gly802Asp p.G802D ENST00000334463 NM_017669.2 802 gGt/gAt 0 -ERCC6L UCSF GRCh37 X 71426791 71426791 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 14 45 0 ENST00000334463.3:c.1826C>T p.Thr609Ile p.T609I ENST00000334463 NM_017669.2 609 aCt/aTt 0 -ERI1 UCSF GRCh37 8 8887368 8887368 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 37 92 0 ENST00000250263.7:c.874C>T p.Pro292Ser p.P292S ENST00000250263 NM_153332.3 292 Cct/Tct 0 -ERI1 UCSF GRCh37 8 8887425 8887425 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 90 15 114 0 ENST00000250263.7:c.931C>T p.Gln311Ter p.Q311* ENST00000250263 NM_153332.3 311 Cag/Tag 0 -ESAM UCSF GRCh37 11 124623720 124623720 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 10 17 0 ENST00000278927.5:c.995C>T p.Thr332Ile p.T332I ENST00000278927 NM_138961.2 332 aCc/aTc 0 -ESCO2 UCSF GRCh37 8 27634036 27634036 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 13 81 0 ENST00000305188.8:c.211G>A p.Ala71Thr p.A71T ENST00000305188 NM_001017420.2 71 Gca/Aca 0 -ESRP1 UCSF GRCh37 8 95653643 95653643 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 69 17 113 0 ENST00000433389.2:c.97C>T p.Leu33= p.L33= ENST00000433389 NM_001034915.2 33 Ctg/Ttg 0 -ESRRA UCSF GRCh37 11 64083256 64083256 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 6 36 0 ENST00000000442.6:c.1090G>A p.Ala364Thr p.A364T ENST00000000442 364 Gcc/Acc 0 -ETS2 UCSF GRCh37 21 40194711 40194711 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 7 23 0 ENST00000360214.3:c.1308G>A p.Lys436= p.K436= ENST00000360214 NM_001256295.1 436 aaG/aaA 0 -EVPL UCSF GRCh37 17 74006448 74006448 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 9 20 0 ENST00000301607.3:c.2838G>A p.Arg946= p.R946= ENST00000301607 NM_001988.2 946 agG/agA 0 -EVPL UCSF GRCh37 17 74003406 74003406 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 15 29 0 ENST00000301607.3:c.5880C>T p.Leu1960= p.L1960= ENST00000301607 NM_001988.2 1960 ctC/ctT 0 -EXD2 UCSF GRCh37 14 69704412 69704412 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 3 11 0 ENST00000312994.5:c.1413C>T p.Asn471= p.N471= ENST00000312994 471 aaC/aaT 0 -EXOC1 UCSF GRCh37 4 56768539 56768539 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 63 8 53 0 ENST00000346134.7:c.2367G>A p.Val789= p.V789= ENST00000346134 NM_018261.3 789 gtG/gtA 0 -EXOC2 UCSF GRCh37 6 489001 489001 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 182 28 99 0 ENST00000230449.4:c.2659C>T p.Leu887Phe p.L887F ENST00000230449 NM_018303.5 887 Ctt/Ttt 0 -EXOSC1 UCSF GRCh37 10 99203044 99203044 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 106 19 106 0 ENST00000370902.3:c.172G>A p.Glu58Lys p.E58K ENST00000370902 NM_016046.3 58 Gaa/Aaa 0 -F5 UCSF GRCh37 1 169484688 169484688 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 98 76 128 0 ENST00000367797.3:c.6522G>A p.Val2174= p.V2174= ENST00000367797 NM_000130.4 2174 gtG/gtA 0 -F5 UCSF GRCh37 1 169510620 169510620 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 146 26 112 0 ENST00000367797.3:c.3708C>T p.Ser1236= p.S1236= ENST00000367797 NM_000130.4 1236 agC/agT 0 -F8 UCSF GRCh37 X 154157439 154157439 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 69 56 0 ENST00000360256.4:c.4626G>A p.Gly1542= p.G1542= ENST00000360256 NM_000132.3 1542 ggG/ggA 0 -FAAH2 UCSF GRCh37 X 57475016 57475016 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 12 42 0 ENST00000374900.4:c.1288G>A p.Ala430Thr p.A430T ENST00000374900 NM_174912.3 430 Gca/Aca 0 -FABP4 UCSF GRCh37 8 82391107 82391107 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 9 71 0 ENST00000256104.4:c.392G>A p.Arg131Lys p.R131K ENST00000256104 NM_001442.2 131 aGa/aAa 0 -FAM108C1 UCSF GRCh37 15 81046697 81046697 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 31 81 0 ENST00000258884.4:c.976C>T p.Leu326Phe p.L326F ENST00000258884 NM_021214.1 326 Ctt/Ttt 0 -FAM117B UCSF GRCh37 2 203589645 203589645 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 112 60 153 0 ENST00000392238.2:c.759G>A p.Glu253= p.E253= ENST00000392238 253 gaG/gaA 0 -FAM129A UCSF GRCh37 1 184765105 184765105 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 81 12 75 0 ENST00000367511.3:c.1793C>T p.Ala598Val p.A598V ENST00000367511 NM_052966.3 598 gCc/gTc 0 -FAM134C UCSF GRCh37 17 40761264 40761264 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 7 15 0 ENST00000309428.5:c.79G>A p.Gly27Ser p.G27S ENST00000309428 NM_178126.3 27 Ggc/Agc 0 -FAM135A UCSF GRCh37 6 71185377 71185377 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 19 66 0 ENST00000370479.3:c.180C>T p.Thr60= p.T60= ENST00000370479 60 acC/acT 0 -FAM157A UCSF GRCh37 3 197894633 197894633 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 4 25 1 ENST00000437428.2:n.794G>A *265* ENST00000437428 0 -FAM164A UCSF GRCh37 8 79601489 79601489 + missense_variant Missense_Mutation SNP T T A NOVEL P01_Rec Untested WXS Illumina HiSeq 84 19 89 0 ENST00000263849.4:c.385T>A p.Phe129Ile p.F129I ENST00000263849 NM_016010.2 129 Ttc/Atc 0 -FAM166A UCSF GRCh37 9 140139640 140139640 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 9 6 9 0 ENST00000344774.4:c.553C>T p.Pro185Ser p.P185S ENST00000344774 NM_001001710.1 185 Ccc/Tcc 0 -FAM173B UCSF GRCh37 5 10227654 10227654 + missense_variant Missense_Mutation SNP C C T snp132_rs3177295 P01_Rec Untested WXS Illumina HiSeq 21 26 47 0 ENST00000511437.1:c.601G>A p.Glu201Lys p.E201K ENST00000511437 NM_199133.3 201 Gag/Aag 0 -FAM179B UCSF GRCh37 14 45481213 45481213 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 28 49 0 ENST00000361577.3:c.3173G>A p.Cys1058Tyr p.C1058Y ENST00000361577 NM_015091.2 1058 tGt/tAt 0 -FAM19A1 UCSF GRCh37 3 68466435 68466435 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 99 15 95 0 ENST00000478136.1:c.124G>A p.Gly42Arg p.G42R ENST00000478136 NM_213609.3 42 Ggg/Agg 0 -FAM26E UCSF GRCh37 6 116836991 116836991 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 88 19 105 0 ENST00000368599.3:c.769C>T p.Pro257Ser p.P257S ENST00000368599 NM_153711.2 257 Cct/Tct 0 -FAM46C UCSF GRCh37 1 118166409 118166409 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 8 38 0 ENST00000369448.3:c.919C>T p.Leu307Phe p.L307F ENST00000369448 NM_017709.3 307 Ctc/Ttc 0 -FAM48A UCSF GRCh37 13 37598537 37598537 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 8 64 0 ENST00000350612.6:c.1372G>A p.Gly458Ser p.G458S ENST00000350612 NM_001014286.2 458 Ggt/Agt 0 -FAM63A UCSF GRCh37 1 150973040 150973040 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 14 55 0 ENST00000361936.5:c.628G>A p.Val210Ile p.V210I ENST00000361936 NM_018379.4 210 Gtc/Atc 0 -FAM69B UCSF GRCh37 9 139617831 139617831 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 4 21 0 ENST00000371692.4:c.901G>A p.Ala301Thr p.A301T ENST00000371692 NM_152421.3 301 Gcc/Acc 0 -GARIN4 UCSF GRCh37 1 212799161 212799161 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 12 26 0 ENST00000294829.3:c.942G>A p.Gly314= p.G314= ENST00000294829 NM_153606.3 314 ggG/ggA 0 -GARIN1A UCSF GRCh37 7 128320204 128320204 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 13 42 0 ENST00000480462.1:c.734+1G>A p.X245_splice ENST00000480462 0 -FAM75A6 UCSF GRCh37 9 43627812 43627812 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 115 26 148 0 ENST00000332857.6:c.875C>T p.Ala292Val p.A292V ENST00000332857 NM_001145196.1 292 gCc/gTc 0 -FAM83B UCSF GRCh37 6 54806653 54806653 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 80 11 121 0 ENST00000306858.7:c.2884G>A p.Glu962Lys p.E962K ENST00000306858 NM_001010872.2 962 Gaa/Aaa 0 -FAM83B UCSF GRCh37 6 54806562 54806562 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 91 25 118 0 ENST00000306858.7:c.2793G>A p.Arg931= p.R931= ENST00000306858 NM_001010872.2 931 cgG/cgA 0 -FAM90A1 UCSF GRCh37 12 8374486 8374486 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 79 10 47 0 ENST00000307435.6:c.1327C>T p.Pro443Ser p.P443S ENST00000307435 443 Cca/Tca 0 -FANCA UCSF GRCh37 16 89805354 89805354 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 8 59 0 ENST00000389301.3:c.4196C>T p.Ala1399Val p.A1399V ENST00000389301 NM_000135.2 1399 gCt/gTt 0 -FARP1 UCSF GRCh37 13 99091386 99091386 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 23 35 0 ENST00000319562.6:c.2369G>A p.Ser790Asn p.S790N ENST00000319562 NM_005766.2 790 aGc/aAc 0 -FARS2 UCSF GRCh37 6 5369382 5369382 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 56 9 41 0 ENST00000274680.4:c.579G>A p.Gln193= p.Q193= ENST00000274680 NM_006567.3 193 caG/caA 0 -FASTKD1 UCSF GRCh37 2 170386416 170386416 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 6 52 0 ENST00000453153.2:c.2463C>T p.Asn821= p.N821= ENST00000453153 NM_024622.4 821 aaC/aaT 0 -FASTKD3 UCSF GRCh37 5 7863012 7863012 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 151 24 141 0 ENST00000264669.5:c.1623G>A p.Lys541= p.K541= ENST00000264669 NM_024091.3 541 aaG/aaA 0 -FAT1 UCSF GRCh37 4 187509963 187509963 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 37 14 78 0 ENST00000441802.2:c.13550C>T p.Ala4517Val p.A4517V ENST00000441802 NM_005245.3 4517 gCc/gTc 0 -FAT1 UCSF GRCh37 4 187542914 187542914 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 15 52 112 0 ENST00000441802.2:c.4826C>T p.Ser1609Phe p.S1609F ENST00000441802 NM_005245.3 1609 tCt/tTt 0 -FAT1 UCSF GRCh37 4 187627860 187627860 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 71 123 0 ENST00000441802.2:c.3122G>A p.Gly1041Glu p.G1041E ENST00000441802 NM_005245.3 1041 gGg/gAg 0 -FAT3 UCSF GRCh37 11 92086268 92086268 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 94 57 109 0 ENST00000298047.6:c.990G>A p.Lys330= p.K330= ENST00000298047 330 aaG/aaA 0 -FAT4 UCSF GRCh37 4 126240599 126240599 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 45 118 0 ENST00000394329.3:c.3033G>A p.Val1011= p.V1011= ENST00000394329 NM_024582.4 1011 gtG/gtA 0 -FBLN1 UCSF GRCh37 22 45959103 45959103 + intron_variant Intron SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 10 22 0 ENST00000327858.6:c.1698-11288C>T *566* ENST00000327858 NM_006486.2 0 -FBLN2 UCSF GRCh37 3 13613057 13613057 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 7 20 0 ENST00000295760.7:c.1202C>T p.Pro401Leu p.P401L ENST00000295760 NM_001998.2 401 cCc/cTc 0 -FBLN5 UCSF GRCh37 14 92349365 92349365 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 11 26 0 ENST00000342058.4:c.795G>A p.Gln265= p.Q265= ENST00000342058 NM_006329.3 265 caG/caA 0 -FBN1 UCSF GRCh37 15 48717668 48717668 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 12 49 0 ENST00000316623.5:c.7351G>A p.Ala2451Thr p.A2451T ENST00000316623 NM_000138.4 2451 Gct/Act 0 -FBN1 UCSF GRCh37 15 48757772 48757772 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 12 68 0 ENST00000316623.5:c.4935G>A p.Val1645= p.V1645= ENST00000316623 NM_000138.4 1645 gtG/gtA 0 -FBN3 UCSF GRCh37 19 8148151 8148151 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 19 37 0 ENST00000270509.2:c.7193C>T p.Ala2398Val p.A2398V ENST00000270509 NM_032447.3 2398 gCt/gTt 0 -FBXL5 UCSF GRCh37 4 15627527 15627527 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 24 66 0 ENST00000341285.3:c.1198G>A p.Ala400Thr p.A400T ENST00000341285 NM_001193534.1 400 Gcc/Acc 0 -FBXO18 UCSF GRCh37 10 5965617 5965617 + missense_variant Missense_Mutation SNP G G C NOVEL P01_Rec Untested WXS Illumina HiSeq 40 35 61 0 ENST00000362091.4:c.2356G>C p.Asp786His p.D786H ENST00000362091 NM_001258453.1 786 Gat/Cat 0 -FBXO34 UCSF GRCh37 14 55818571 55818571 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 59 107 0 ENST00000313833.4:c.1463G>A p.Gly488Asp p.G488D ENST00000313833 NM_017943.3 488 gGt/gAt 0 -FCER1A UCSF GRCh37 1 159273926 159273926 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 12 75 0 ENST00000368115.1:c.285C>T p.His95= p.H95= ENST00000368115 NM_002001.3 95 caC/caT 0 -FCHO2 UCSF GRCh37 5 72264375 72264375 + synonymous_variant Silent SNP A A T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 30 98 0 ENST00000430046.2:c.84A>T p.Gly28= p.G28= ENST00000430046 NM_138782.2 28 ggA/ggT 0 -FCRLA UCSF GRCh37 1 161680678 161680678 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 5 42 0 ENST00000367959.2:c.277C>T p.Pro93Ser p.P93S ENST00000367959 NM_001184866.1 93 Ccc/Tcc 0 -FER1L5 UCSF GRCh37 2 97370246 97370246 + downstream_gene_variant 3'Flank SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 113 65 128 0 ENST00000377079 NM_001142292.1 0 -FER1L6 UCSF GRCh37 8 125072466 125072466 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 56 22 78 0 ENST00000399018.1:c.2920G>A p.Asp974Asn p.D974N ENST00000399018 974 Gac/Aac 0 -FFAR2 UCSF GRCh37 19 35941280 35941280 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 13 23 0 ENST00000246549.2:c.664G>A p.Gly222Arg p.G222R ENST00000246549 NM_005306.2 222 Ggg/Agg 0 -FGA UCSF GRCh37 4 155507088 155507088 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 6 82 0 ENST00000302053.3:c.1493G>A p.Gly498Asp p.G498D ENST00000302053 NM_000508.3 498 gGc/gAc 0 -FH UCSF GRCh37 1 241671969 241671969 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 11 74 0 ENST00000366560.3:c.672G>A p.Glu224= p.E224= ENST00000366560 NM_000143.3 224 gaG/gaA 0 -FHOD3 UCSF GRCh37 18 34320685 34320685 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 7 48 0 ENST00000359247.4:c.3067C>T p.Pro1023Ser p.P1023S ENST00000359247 NM_001281739.1 1023 Cct/Tct 0 -FHOD3 UCSF GRCh37 18 34205546 34205546 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 19 40 0 ENST00000359247.4:c.1030G>A p.Ala344Thr p.A344T ENST00000359247 NM_001281739.1 344 Gcc/Acc 0 -FKBP10 UCSF GRCh37 17 39975921 39975921 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 5 19 0 ENST00000321562.4:c.1057G>A p.Gly353Arg p.G353R ENST00000321562 NM_021939.3 353 Gga/Aga 0 -FLII UCSF GRCh37 17 18157899 18157899 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 4 15 0 ENST00000327031.4:c.511C>T p.Arg171Cys p.R171C ENST00000327031 NM_002018.3 171 Cgc/Tgc 0 -FLII UCSF GRCh37 17 18149750 18149751 + inframe_insertion In_Frame_Ins INS - - CTC NOVEL P01_Rec Untested WXS Illumina HiSeq 6 0 ENST00000327031.4:c.3079_3080insGGA p.Glu1026_Asn1027insArg p.E1026_N1027insR ENST00000327031 NM_002018.3 1026 gag/gaGAGg 0 -FLNB UCSF GRCh37 3 58108939 58108939 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 78 27 81 0 ENST00000295956.4:c.3246G>A p.Glu1082= p.E1082= ENST00000295956 NM_001457.3 1082 gaG/gaA 0 -FMNL2 UCSF GRCh37 2 153496531 153496531 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 4 12 0 ENST00000288670.9:c.3006C>T p.Leu1002= p.L1002= ENST00000288670 NM_052905.3 1002 ctC/ctT 0 -FN1 UCSF GRCh37 2 216248897 216248897 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 46 82 0 ENST00000359671.1:c.4467C>T p.Ser1489= p.S1489= ENST00000359671 1489 agC/agT 0 -FNDC7 UCSF GRCh37 1 109276039 109276039 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 40 80 0 ENST00000370017.3:c.2025C>T p.Gly675= p.G675= ENST00000370017 NM_001144937.1 675 ggC/ggT 0 -FNIP1 UCSF GRCh37 5 131007197 131007197 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 96 25 93 0 ENST00000510461.1:c.2939+1G>A p.X980_splice ENST00000510461 NM_133372.2 0 -FOLH1 UCSF GRCh37 11 49221860 49221860 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 54 132 0 ENST00000256999.2:c.358C>T p.Pro120Ser p.P120S ENST00000256999 NM_004476.1 120 Cca/Tca 0 -FOLR1 UCSF GRCh37 11 71906504 71906504 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 45 70 0 ENST00000312293.4:c.357+1G>A p.X119_splice ENST00000312293 NM_016725.2 0 -FOSB UCSF GRCh37 19 45974128 45974128 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 5 10 14 0 ENST00000353609.3:c.368C>T p.Pro123Leu p.P123L ENST00000353609 NM_006732.2 123 cCt/cTt 0 -FOXB1 UCSF GRCh37 15 60297264 60297264 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 25 26 0 ENST00000396057.4:c.102G>A p.Leu34= p.L34= ENST00000396057 NM_012182.2 34 ctG/ctA 0 -FOXD2 UCSF GRCh37 1 47904249 47904249 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 18 34 0 ENST00000334793.5:c.442C>T p.Leu148= p.L148= ENST00000334793 NM_004474.3 148 Ctg/Ttg 0 -FOXF2 UCSF GRCh37 6 1390553 1390553 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 8 13 0 ENST00000259806.1:c.371G>A p.Ser124Asn p.S124N ENST00000259806 NM_001452.1 124 aGc/aAc 0 -FOXJ3 UCSF GRCh37 1 42657092 42657092 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 35 56 0 ENST00000361346.1:c.1233G>A p.Gln411= p.Q411= ENST00000361346 NM_014947.4 411 caG/caA 0 -FOXP2 UCSF GRCh37 7 114282468 114282468 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 35 39 0 ENST00000350908.4:c.779G>A p.Gly260Asp p.G260D ENST00000350908 260 gGc/gAc 0 -FOXR2 UCSF GRCh37 X 55650852 55650852 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 6 39 0 ENST00000339140.3:c.708G>A p.Trp236Ter p.W236* ENST00000339140 NM_198451.3 236 tgG/tgA 0 -FPGT UCSF GRCh37 1 74670257 74670257 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 55 87 0 ENST00000609362.1:c.526G>A p.Gly176Arg p.G176R ENST00000609362 176 Gga/Aga 0 -FRMD7 UCSF GRCh37 X 131212643 131212643 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 78 17 49 0 ENST00000298542.4:c.1402C>T p.Arg468Cys p.R468C ENST00000298542 NM_194277.2 468 Cgt/Tgt 0 -FRRS1 UCSF GRCh37 1 100195235 100195235 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 9 24 0 ENST00000287474.5:c.829G>A p.Gly277Arg p.G277R ENST00000287474 NM_001013660.2 277 Ggg/Agg 0 -FSD2 UCSF GRCh37 15 83437672 83437672 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 5 37 0 ENST00000334574.8:c.1513C>T p.Leu505= p.L505= ENST00000334574 505 Ctg/Ttg 0 -FSTL4 UCSF GRCh37 5 132561419 132561419 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 22 42 0 ENST00000265342.7:c.1108C>T p.Pro370Ser p.P370S ENST00000265342 NM_015082.1 370 Ccc/Tcc 0 -FUT9 UCSF GRCh37 6 96651854 96651854 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 27 62 0 ENST00000302103.5:c.823G>A p.Glu275Lys p.E275K ENST00000302103 NM_006581.3 275 Gaa/Aaa 0 -FYB UCSF GRCh37 5 39119705 39119705 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 83 43 151 0 ENST00000351578.6:c.2032G>A p.Glu678Lys p.E678K ENST00000351578 NM_199335.3 678 Gaa/Aaa 0 -FZD2 UCSF GRCh37 17 42636154 42636154 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 11 24 0 ENST00000315323.3:c.1098G>A p.Glu366= p.E366= ENST00000315323 NM_001466.3 366 gaG/gaA 0 -FZD7 UCSF GRCh37 2 202900847 202900847 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 3 26 0 ENST00000286201.1:c.1477C>T p.Gln493Ter p.Q493* ENST00000286201 NM_003507.1 493 Cag/Tag 0 -GAB1 UCSF GRCh37 4 144359379 144359379 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 12 43 0 ENST00000262994.4:c.821C>T p.Ser274Phe p.S274F ENST00000262994 NM_002039.3 274 tCt/tTt 0 -GADD45G UCSF GRCh37 9 92220582 92220582 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 4 10 0 ENST00000252506.6:c.156G>A p.Val52= p.V52= ENST00000252506 NM_006705.3 52 gtG/gtA 0 -GAL3ST4 UCSF GRCh37 7 99758503 99758503 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 6 27 0 ENST00000360039.4:c.509C>T p.Ser170Phe p.S170F ENST00000360039 NM_024637.4 170 tCc/tTc 0 -GALNT13 UCSF GRCh37 2 155099216 155099216 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 19 83 0 ENST00000392825.3:c.484C>T p.Leu162Phe p.L162F ENST00000392825 NM_052917.2 162 Ctc/Ttc 0 -GALNTL6 UCSF GRCh37 4 173961168 173961168 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 6 94 0 ENST00000506823.1:c.1723C>T p.Pro575Ser p.P575S ENST00000506823 NM_001034845.2 575 Cct/Tct 0 -GANAB UCSF GRCh37 11 62398076 62398076 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 28 31 0 ENST00000356638.3:c.1383G>A p.Arg461= p.R461= ENST00000356638 NM_198334.2 461 cgG/cgA 0 -GAS2L2 UCSF GRCh37 17 34072163 34072163 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 18 39 0 ENST00000254466.6:c.2353G>A p.Asp785Asn p.D785N ENST00000254466 NM_139285.3 785 Gac/Aac 0 -GAS6 UCSF GRCh37 13 114535664 114535664 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 18 22 0 ENST00000327773.6:c.896G>A p.Arg299Gln p.R299Q ENST00000327773 NM_000820.2 299 cGg/cAg 0 -GATM UCSF GRCh37 15 45656140 45656140 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 8 63 0 ENST00000396659.3:c.1117G>A p.Asp373Asn p.D373N ENST00000396659 NM_001482.2 373 Gat/Aat 0 -GBA2 UCSF GRCh37 9 35741757 35741757 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 4 35 0 ENST00000378103.3:c.698C>T p.Pro233Leu p.P233L ENST00000378103 NM_020944.2 233 cCc/cTc 0 -GBP3 UCSF GRCh37 1 89473487 89473487 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 35 96 0 ENST00000370481.4:c.1708C>T p.Leu570Phe p.L570F ENST00000370481 NM_018284.2 570 Ctt/Ttt 0 -GCDH UCSF GRCh37 19 13007724 13007724 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 5 10 0 ENST00000222214.5:c.853G>A p.Gly285Ser p.G285S ENST00000222214 NM_000159.3 285 Ggt/Agt 0 -GCHFR UCSF GRCh37 15 41059451 41059451 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 14 29 0 ENST00000260447.4:c.159C>T p.Pro53= p.P53= ENST00000260447 NM_005258.2 53 ccC/ccT 0 -GCK UCSF GRCh37 7 44187403 44187403 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 10 17 0 ENST00000403799.3:c.709G>A p.Glu237Lys p.E237K ENST00000403799 NM_000162.3 237 Gag/Aag 0 -GCLC UCSF GRCh37 6 53381010 53381010 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 25 58 0 ENST00000229416.6:c.457C>T p.Pro153Ser p.P153S ENST00000229416 NM_001197115.1 153 Cct/Tct 0 -GDF2 UCSF GRCh37 10 48413747 48413747 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 18 31 0 ENST00000249598.1:c.1121C>T p.Ala374Val p.A374V ENST00000249598 NM_016204.1 374 gCt/gTt 0 -GDPD1 UCSF GRCh37 17 57348345 57348345 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 43 98 0 ENST00000284116.4:c.759G>A p.Trp253Ter p.W253* ENST00000284116 NM_182569.3 253 tgG/tgA 0 -GEMIN5 UCSF GRCh37 5 154292500 154292500 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 56 7 52 0 ENST00000285873.7:c.1954G>A p.Asp652Asn p.D652N ENST00000285873 NM_001252156.1 652 Gat/Aat 0 -GFER UCSF GRCh37 16 2034833 2034833 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 5 25 0 ENST00000248114.6:c.344C>T p.Ala115Val p.A115V ENST00000248114 NM_005262.2 115 gCc/gTc 0 -GFRA2 UCSF GRCh37 8 21560357 21560357 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 6 12 0 ENST00000517328.1:c.1178G>A p.Ser393Asn p.S393N ENST00000517328 393 aGc/aAc 0 -GH2 UCSF GRCh37 17 61957741 61957741 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 31 75 0 ENST00000423893.2:c.594G>A p.Lys198= p.K198= ENST00000423893 198 aaG/aaA 0 -GIF UCSF GRCh37 11 59604702 59604702 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 30 63 0 ENST00000257248.2:c.816C>T p.Leu272= p.L272= ENST00000257248 NM_005142.2 272 ctC/ctT 0 -GIGYF1 UCSF GRCh37 7 100280950 100280950 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 4 17 0 ENST00000275732.5:c.2170G>A p.Glu724Lys p.E724K ENST00000275732 NM_022574.4 724 Gaa/Aaa 0 -GIT1 UCSF GRCh37 17 27903626 27903626 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 8 11 16 0 ENST00000225394.3:c.1294G>A p.Ala432Thr p.A432T ENST00000225394 NM_014030.3 432 Gcc/Acc 0 -GJA8 UCSF GRCh37 1 147380848 147380848 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 23 54 0 ENST00000369235.1:c.766G>A p.Ala256Thr p.A256T ENST00000369235 256 Gct/Act 0 -GLG1 UCSF GRCh37 16 74526903 74526903 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 64 11 81 0 ENST00000422840.2:c.1186G>A p.Ala396Thr p.A396T ENST00000422840 NM_001145667.1 396 Gcc/Acc 0 -GLT25D2 UCSF GRCh37 1 183913371 183913371 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 32 59 0 ENST00000361927.4:c.1356G>A p.Leu452= p.L452= ENST00000361927 NM_015101.2 452 ctG/ctA 0 -GMIP UCSF GRCh37 19 19750912 19750912 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 11 14 0 ENST00000203556.4:c.519G>A p.Gln173= p.Q173= ENST00000203556 NM_016573.2 173 caG/caA 0 -GNA14 UCSF GRCh37 9 80040551 80040551 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 85 44 132 0 ENST00000341700.6:c.804C>T p.Phe268= p.F268= ENST00000341700 NM_004297.3 268 ttC/ttT 0 -GNA15 UCSF GRCh37 19 3162822 3162822 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 13 15 0 ENST00000262958.3:c.930G>A p.Arg310= p.R310= ENST00000262958 NM_002068.2 310 agG/agA 0 -GNAL UCSF GRCh37 18 11872322 11872322 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 37 146 0 ENST00000269162.5:c.856G>A p.Glu286Lys p.E286K ENST00000269162 NM_001142339.2 286 Gaa/Aaa 0 -GNAS UCSF GRCh37 20 57415344 57415344 + intron_variant,non_coding_transcript_variant Intron SNP C C T snp132_rs1800901 P01_Rec Untested WXS Illumina HiSeq 25 3 20 0 ENST00000424094.2:n.819+1648G>A *273* ENST00000424094 0 -GNB5 UCSF GRCh37 15 52446146 52446146 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 27 60 0 ENST00000261837.7:c.366C>T p.Ser122= p.S122= ENST00000261837 NM_016194.3 122 agC/agT 0 -GNPNAT1 UCSF GRCh37 14 53248573 53248573 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 88 17 98 0 ENST00000216410.3:c.274G>A p.Val92Met p.V92M ENST00000216410 NM_198066.3 92 Gtg/Atg 0 -GOLGA1 UCSF GRCh37 9 127642825 127642825 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0015 P01_Rec Untested WXS Illumina HiSeq 70 35 72 0 ENST00000373555.4:c.2288G>A p.Arg763Gln p.R763Q ENST00000373555 NM_002077.3 763 cGg/cAg 0 -GOLGA4 UCSF GRCh37 3 37368568 37368568 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 25 145 0 ENST00000361924.2:c.5191C>T p.Gln1731Ter p.Q1731* ENST00000361924 NM_002078.4 1731 Cag/Tag 0 -GOLGA4 UCSF GRCh37 3 37367002 37367002 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 46 128 0 ENST00000361924.2:c.3625C>T p.Leu1209= p.L1209= ENST00000361924 NM_002078.4 1209 Ctg/Ttg 0 -GOLGA6C UCSF GRCh37 15 75562438 75562438 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 24 62 0 ENST00000300576.5:c.1980C>T p.Asn660= p.N660= ENST00000300576 NM_001164404.1 660 aaC/aaT 0 -GORASP2 UCSF GRCh37 2 171806194 171806194 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 32 108 0 ENST00000234160.4:c.290G>A p.Gly97Glu p.G97E ENST00000234160 NM_015530.4 97 gGa/gAa 0 -GPAA1 UCSF GRCh37 8 145139655 145139655 + synonymous_variant Silent SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 26 3 45 0 ENST00000355091.4:c.1041C>T p.Asn347= p.N347= ENST00000355091 NM_003801.3 347 aaC/aaT 0 -GPR107 UCSF GRCh37 9 132837988 132837988 + missense_variant Missense_Mutation SNP G G T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 4 22 0 ENST00000372406.1:c.215G>T p.Ser72Ile p.S72I ENST00000372406 NM_001136557.1 72 aGt/aTt 0 -GPR112 UCSF GRCh37 X 135405205 135405205 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 66 43 0 ENST00000370652.1:c.339C>T p.His113= p.H113= ENST00000370652 113 caC/caT 0 -GPR137C UCSF GRCh37 14 53098962 53098962 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 44 79 0 ENST00000321662.6:c.802G>A p.Val268Ile p.V268I ENST00000321662 NM_001099652.1 268 Gtc/Atc 0 -GPR158 UCSF GRCh37 10 25886967 25886967 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 141 21 110 0 ENST00000376351.3:c.2412G>A p.Glu804= p.E804= ENST00000376351 NM_020752.2 804 gaG/gaA 0 -GPR172A UCSF GRCh37 8 145583449 145583449 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 23 51 0 ENST00000329994.2:c.297G>A p.Trp99Ter p.W99* ENST00000329994 NM_024531.4 99 tgG/tgA 0 -GPR176 UCSF GRCh37 15 40093646 40093646 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 24 45 0 ENST00000561100.1:c.1235G>A p.Gly412Glu p.G412E ENST00000561100 NM_007223.2 412 gGa/gAa 0 -GPR19 UCSF GRCh37 12 12814250 12814250 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 83 45 142 0 ENST00000332427.2:c.1133C>T p.Pro378Leu p.P378L ENST00000332427 NM_006143.2 378 cCt/cTt 0 -GPR22 UCSF GRCh37 7 107115668 107115668 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 58 143 0 ENST00000304402.4:c.1163C>T p.Ser388Phe p.S388F ENST00000304402 NM_005295.2 388 tCt/tTt 0 -GPR37L1 UCSF GRCh37 1 202092434 202092434 + missense_variant Missense_Mutation SNP C C A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 6 22 1 ENST00000367282.5:c.343C>A p.Gln115Lys p.Q115K ENST00000367282 NM_004767.3 115 Cag/Aag 0 -GPR45 UCSF GRCh37 2 105858490 105858490 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 17 41 0 ENST00000258456.1:c.175G>A p.Val59Met p.V59M ENST00000258456 NM_007227.3 59 Gtg/Atg 0 -GPR64 UCSF GRCh37 X 19032072 19032072 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 8 28 0 ENST00000379869.3:c.831C>T p.Thr277= p.T277= ENST00000379869 NM_001079858.2 277 acC/acT 0 -GPRC6A UCSF GRCh37 6 117127574 117127574 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 21 51 0 ENST00000310357.3:c.1294G>A p.Ala432Thr p.A432T ENST00000310357 NM_148963.2 432 Gct/Act 0 -GPRC6A UCSF GRCh37 6 117130700 117130700 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 27 56 0 ENST00000310357.3:c.275G>A p.Gly92Glu p.G92E ENST00000310357 NM_148963.2 92 gGa/gAa 0 -GPRC6A UCSF GRCh37 6 117127942 117127942 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 54 120 0 ENST00000310357.3:c.926C>T p.Thr309Ile p.T309I ENST00000310357 NM_148963.2 309 aCc/aTc 0 -GPX4 UCSF GRCh37 19 1106459 1106459 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 5 21 0 ENST00000354171.8:c.561+1G>A p.X187_splice ENST00000354171 NM_001039847.1 0 -GPX6 UCSF GRCh37 6 28478643 28478643 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 69 18 49 0 ENST00000361902.1:c.126G>A p.Glu42= p.E42= ENST00000361902 NM_182701.1 42 gaG/gaA 0 -GREB1 UCSF GRCh37 2 11765424 11765424 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 171 61 112 0 ENST00000234142.5:c.4292G>A p.Gly1431Asp p.G1431D ENST00000234142 1431 gGt/gAt 0 -GRHL1 UCSF GRCh37 2 10104452 10104452 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 19 43 0 ENST00000324907.9:c.992C>T p.Ala331Val p.A331V ENST00000324907 NM_198182.2 331 gCt/gTt 0 -GRID1 UCSF GRCh37 10 87406962 87406962 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 69 35 75 0 ENST00000327946.7:c.2190G>A p.Arg730= p.R730= ENST00000327946 NM_017551.2 730 agG/agA 0 -GRID2 UCSF GRCh37 4 94138039 94138039 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 105 27 116 0 ENST00000282020.4:c.940G>A p.Asp314Asn p.D314N ENST00000282020 NM_001510.2 314 Gat/Aat 0 -GRID2 UCSF GRCh37 4 94376896 94376896 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 27 70 0 ENST00000282020.4:c.1629C>T p.Tyr543= p.Y543= ENST00000282020 NM_001510.2 543 taC/taT 0 -GRID2 UCSF GRCh37 4 94316793 94316793 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 35 98 0 ENST00000282020.4:c.1281G>A p.Gly427= p.G427= ENST00000282020 NM_001510.2 427 ggG/ggA 0 -GRIK1 UCSF GRCh37 21 31062291 31062291 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 11 35 0 ENST00000399907.1:c.301G>A p.Ala101Thr p.A101T ENST00000399907 NM_000830.3 101 Gct/Act 0 -GRIN1 UCSF GRCh37 9 140058244 140058244 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 17 33 0 ENST00000371561.3:c.2477C>T p.Ala826Val p.A826V ENST00000371561 NM_007327.3 826 gCc/gTc 0 -GRIP2 UCSF GRCh37 3 14536441 14536441 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 4 18 0 ENST00000273083.3:n.2945C>T *982* ENST00000273083 0 -GRM1 UCSF GRCh37 6 146720776 146720776 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 21 18 0 ENST00000282753.1:c.2601C>T p.Cys867= p.C867= ENST00000282753 NM_001278067.1 867 tgC/tgT 0 -GRM1 UCSF GRCh37 6 146747734 146747734 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 24 62 0 ENST00000282753.1:c.2661-7274G>A *887* ENST00000282753 NM_001278067.1 0 -GRM2 UCSF GRCh37 3 51749551 51749551 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 18 22 0 ENST00000395052.3:c.1762G>A p.Val588Ile p.V588I ENST00000395052 NM_000839.3 588 Gtc/Atc 0 -GRM8 UCSF GRCh37 7 126882895 126882895 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 26 82 0 ENST00000339582.2:c.364G>A p.Ala122Thr p.A122T ENST00000339582 122 Gca/Aca 0 -GRTP1 UCSF GRCh37 13 113980369 113980369 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 10 17 0 ENST00000375431.4:c.600C>T p.Asp200= p.D200= ENST00000375431 NM_024719.2 200 gaC/gaT 0 -GRXCR1 UCSF GRCh37 4 42895398 42895398 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 77 48 89 0 ENST00000399770.2:c.115T>C p.Ser39Pro p.S39P ENST00000399770 NM_001080476.2 39 Tca/Cca 0 -GRXCR2 UCSF GRCh37 5 145239346 145239346 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 23 57 0 ENST00000377976.1:c.697C>T p.Pro233Ser p.P233S ENST00000377976 NM_001080516.1 233 Cct/Tct 0 -GSG2 UCSF GRCh37 17 3628523 3628523 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 35 82 0 ENST00000325418.4:c.1294G>A p.Ala432Thr p.A432T ENST00000325418 NM_031965.2 432 Gct/Act 0 -GTSE1 UCSF GRCh37 22 46708062 46708062 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 30 61 0 ENST00000454366.1:c.787C>T p.Pro263Ser p.P263S ENST00000454366 NM_016426.6 263 Cct/Tct 0 -GXYLT1 UCSF GRCh37 12 42481737 42481737 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 25 60 0 ENST00000398675.3:c.1174G>A p.Asp392Asn p.D392N ENST00000398675 NM_173601.1 392 Gat/Aat 0 -GXYLT1 UCSF GRCh37 12 42491349 42491349 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 124 14 111 0 ENST00000398675.3:c.1056C>T p.Cys352= p.C352= ENST00000398675 NM_173601.1 352 tgC/tgT 0 -HAP1 UCSF GRCh37 17 39881070 39881070 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 93 11 61 0 ENST00000310778.5:c.1899C>T p.Asn633= p.N633= ENST00000310778 633 aaC/aaT 0 -HBS1L UCSF GRCh37 6 135358639 135358639 + intron_variant Intron SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 12 69 0 ENST00000367837.5:c.430+2072G>A *144* ENST00000367837 NM_006620.3 0 -HBS1L UCSF GRCh37 6 135360725 135360725 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 100 22 125 0 ENST00000367837.5:c.416G>A p.Gly139Glu p.G139E ENST00000367837 NM_006620.3 139 gGa/gAa 0 -HDAC4 UCSF GRCh37 2 239990216 239990216 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 5 16 0 ENST00000345617.3:c.2823C>T p.Thr941= p.T941= ENST00000345617 NM_006037.3 941 acC/acT 0 -HEATR4 UCSF GRCh37 14 73965842 73965842 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 37 73 0 ENST00000334988.2:c.2289G>A p.Val763= p.V763= ENST00000334988 NM_203309.2 763 gtG/gtA 0 -HEATR5A UCSF GRCh37 14 31852965 31852965 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 12 53 0 ENST00000389961.3:c.1340G>A p.Ser447Asn p.S447N ENST00000389961 447 aGt/aAt 0 -HEATR6 UCSF GRCh37 17 58123567 58123567 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 36 103 0 ENST00000184956.6:c.2793C>T p.Ala931= p.A931= ENST00000184956 NM_022070.4 931 gcC/gcT 0 -HECTD1 UCSF GRCh37 14 31592144 31592144 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 107 20 111 0 ENST00000399332.1:c.5091G>A p.Glu1697= p.E1697= ENST00000399332 NM_015382.2 1697 gaG/gaA 0 -HECTD1 UCSF GRCh37 14 31597876 31597876 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 35 71 0 ENST00000399332.1:c.4701C>T p.Ser1567= p.S1567= ENST00000399332 NM_015382.2 1567 agC/agT 0 -HELZ UCSF GRCh37 17 65147165 65147165 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 38 93 0 ENST00000358691.5:c.2353C>T p.Pro785Ser p.P785S ENST00000358691 NM_014877.3 785 Cct/Tct 0 -HERC1 UCSF GRCh37 15 63986511 63986511 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 118 15 98 0 ENST00000443617.2:c.5480G>A p.Gly1827Glu p.G1827E ENST00000443617 NM_003922.3 1827 gGg/gAg 0 -HERC4 UCSF GRCh37 10 69748441 69748441 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 96 18 142 0 ENST00000395198.3:c.1785G>A p.Lys595= p.K595= ENST00000395198 NM_022079.2 595 aaG/aaA 0 -HGSNAT UCSF GRCh37 8 43046714 43046714 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 45 15 56 0 ENST00000379644.4:c.1226T>C p.Leu409Pro p.L409P ENST00000379644 NM_152419.2 409 cTc/cCc 0 -HINFP UCSF GRCh37 11 119003262 119003262 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 8 36 0 ENST00000350777.2:c.733C>T p.Arg245Trp p.R245W ENST00000350777 NM_198971.2 245 Cgg/Tgg 0 -HINT3 UCSF GRCh37 6 126296071 126296071 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 44 106 0 ENST00000229633.5:c.468C>T p.Gly156= p.G156= ENST00000229633 NM_138571.4 156 ggC/ggT 0 -HIPK1 UCSF GRCh37 1 114512655 114512655 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 102 24 54 0 ENST00000369558.1:c.2849G>A p.Ser950Asn p.S950N ENST00000369558 950 aGc/aAc 0 -HIRA UCSF GRCh37 22 19347002 19347002 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 5 18 0 ENST00000263208.5:c.2091C>T p.Ser697= p.S697= ENST00000263208 NM_003325.3 697 agC/agT 0 -HIVEP1 UCSF GRCh37 6 12123966 12123966 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 105 14 58 0 ENST00000379388.2:c.3938C>T p.Ser1313Phe p.S1313F ENST00000379388 NM_002114.2 1313 tCt/tTt 0 -HIVEP1 UCSF GRCh37 6 12124361 12124361 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 143 30 112 0 ENST00000379388.2:c.4333C>T p.Pro1445Ser p.P1445S ENST00000379388 NM_002114.2 1445 Cct/Tct 0 -HIVEP1 UCSF GRCh37 6 12122439 12122439 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 119 44 103 0 ENST00000379388.2:c.2411G>A p.Ser804Asn p.S804N ENST00000379388 NM_002114.2 804 aGt/aAt 0 -HLA-B UCSF GRCh37 6 31323134 31323134 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.020,snp132_rs1050240 P01_Rec Untested WXS Illumina HiSeq 62 10 26 1 ENST00000412585.2:c.855A>G p.Val285= p.V285= ENST00000412585 NM_005514.6 285 gtA/gtG 0 -HLA-C UCSF GRCh37 6 31239616 31239616 + missense_variant Missense_Mutation SNP C C A 1000g2010nov_all_0.000,1000g2011may_all_0.0851,snp132_rs1050445 P01_Rec Untested WXS Illumina HiSeq 26 4 11 0 ENST00000376228.5:c.103G>T p.Ala35Ser p.A35S ENST00000376228 NM_002117.5 35 Gcc/Tcc 0 -HLA-DMA UCSF GRCh37 6 32917118 32917118 + synonymous_variant Silent SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 36 7 20 0 ENST00000374843.4:c.711T>C p.Phe237= p.F237= ENST00000374843 NM_006120.3 237 ttT/ttC 0 -HLA-DPB1 UCSF GRCh37 6 33053616 33053616 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 64 23 34 0 ENST00000418931.2:c.707G>A p.Gly236Glu p.G236E ENST00000418931 NM_002121.5 236 gGg/gAg 0 -HMCN1 UCSF GRCh37 1 186072691 186072691 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 30 57 0 ENST00000271588.4:c.10661G>A p.Gly3554Glu p.G3554E ENST00000271588 NM_031935.2 3554 gGa/gAa 0 -HMGCS2 UCSF GRCh37 1 120301844 120301844 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 9 65 0 ENST00000369406.3:c.747G>A p.Glu249= p.E249= ENST00000369406 NM_005518.3 249 gaG/gaA 0 -HMOX1 UCSF GRCh37 22 35789569 35789569 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 38 57 0 ENST00000216117.8:c.845C>T p.Ala282Val p.A282V ENST00000216117 NM_002133.2 282 gCt/gTt 0 -HNRNPA1 UCSF GRCh37 12 54677599 54677599 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 122 75 111 0 ENST00000340913.6:c.911G>A p.Ser304Asn p.S304N ENST00000340913 NM_002136.2 304 aGc/aAc 0 -HOGA1 UCSF GRCh37 10 99359865 99359865 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 16 58 0 ENST00000370646.4:c.645G>A p.Gln215= p.Q215= ENST00000370646 NM_138413.3 215 caG/caA 0 -HOMEZ UCSF GRCh37 14 23745354 23745354 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 123 16 72 0 ENST00000357460.5:c.1083G>A p.Lys361= p.K361= ENST00000357460 NM_020834.2 361 aaG/aaA 0 -HOOK2 UCSF GRCh37 19 12881784 12881784 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 4 17 0 ENST00000397668.3:c.864G>A p.Gln288= p.Q288= ENST00000397668 NM_013312.2 288 caG/caA 0 -HOOK3 UCSF GRCh37 8 42819560 42819560 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 16 107 0 ENST00000307602.4:c.722G>A p.Gly241Glu p.G241E ENST00000307602 NM_032410.3 241 gGa/gAa 0 -HOXA4 UCSF GRCh37 7 27169181 27169181 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 20 24 0 ENST00000360046.5:c.626G>A p.Ser209Asn p.S209N ENST00000360046 NM_002141.4 209 aGt/aAt 0 -HOXB13 UCSF GRCh37 17 46804157 46804157 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 27 35 0 ENST00000290295.7:c.850C>T p.Pro284Ser p.P284S ENST00000290295 NM_006361.5 284 Cct/Tct 0 -HOXC5 UCSF GRCh37 12 54426994 54426994 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 6 39 0 ENST00000312492.2:c.88G>A p.Ala30Thr p.A30T ENST00000312492 NM_018953.2 30 Gcc/Acc 0 -HPD UCSF GRCh37 12 122284968 122284968 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 21 58 0 ENST00000289004.4:c.749C>T p.Ser250Phe p.S250F ENST00000289004 NM_002150.2 250 tCc/tTc 0 -HR UCSF GRCh37 8 21979143 21979143 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 11 20 0 ENST00000381418.4:c.2186C>T p.Thr729Ile p.T729I ENST00000381418 NM_005144.4 729 aCc/aTc 0 -HSF4 UCSF GRCh37 16 67201407 67201407 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 33 38 0 ENST00000264009.8:c.759C>T p.Ser253= p.S253= ENST00000264009 NM_001040667.2 253 agC/agT 0 -HSPA5 UCSF GRCh37 9 127998941 127998941 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 101 33 76 0 ENST00000324460.6:c.1895G>A p.Ser632Asn p.S632N ENST00000324460 NM_005347.4 632 aGc/aAc 0 -HSPG2 UCSF GRCh37 1 22203049 22203049 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 6 11 0 ENST00000374695.3:c.2782G>A p.Gly928Ser p.G928S ENST00000374695 NM_005529.5 928 Ggt/Agt 0 -HSPH1 UCSF GRCh37 13 31712963 31712963 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 33 93 0 ENST00000320027.5:c.2163G>A p.Gln721= p.Q721= ENST00000320027 NM_006644.2 721 caG/caA 0 -HYDIN UCSF GRCh37 16 70902603 70902603 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 15 44 0 ENST00000393567.2:c.11180G>A p.Arg3727Lys p.R3727K ENST00000393567 NM_001270974.1 3727 aGg/aAg 0 -HYOU1 UCSF GRCh37 11 118923365 118923365 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 8 15 0 ENST00000404233.3:c.971C>T p.Ala324Val p.A324V ENST00000404233 NM_001130991.1 324 gCt/gTt 0 -IARS2 UCSF GRCh37 1 220307830 220307830 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 16 51 0 ENST00000366922.1:c.1708G>A p.Ala570Thr p.A570T ENST00000366922 570 Gca/Aca 0 -IBTK UCSF GRCh37 6 82882227 82882227 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 10 84 0 ENST00000306270.7:c.3800C>T p.Pro1267Leu p.P1267L ENST00000306270 NM_015525.2 1267 cCc/cTc 0 -ICK UCSF GRCh37 6 52870001 52870001 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 22 51 0 ENST00000350082.5:c.1845C>T p.Ala615= p.A615= ENST00000350082 NM_014920.3 615 gcC/gcT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 47 22 74 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IFFO1 UCSF GRCh37 12 6649714 6649714 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 4 15 0 ENST00000396840.2:c.1615C>T p.Pro539Ser p.P539S ENST00000396840 539 Ccg/Tcg 0 -IFT122 UCSF GRCh37 3 129195505 129195505 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 4 47 0 ENST00000348417.2:c.1009-1G>A p.X337_splice ENST00000348417 NM_052989.2 0 -IGF2BP3 UCSF GRCh37 7 23358756 23358756 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 94 13 104 0 ENST00000258729.3:c.1320+1G>A p.X440_splice ENST00000258729 NM_006547.2 0 -IGFBP3 UCSF GRCh37 7 45956908 45956908 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 35 42 0 ENST00000275521.6:c.534G>A p.Gly178= p.G178= ENST00000275521 NM_001013398.1 178 ggG/ggA 0 -IGFBP5 UCSF GRCh37 2 217543670 217543670 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 14 25 0 ENST00000233813.4:c.470G>A p.Arg157Lys p.R157K ENST00000233813 NM_000599.3 157 aGa/aAa 0 -IGSF10 UCSF GRCh37 3 151166242 151166242 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 63 105 0 ENST00000282466.3:c.1527G>A p.Trp509Ter p.W509* ENST00000282466 NM_178822.4 509 tgG/tgA 0 -IGSF21 UCSF GRCh37 1 18692125 18692125 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 8 23 0 ENST00000251296.1:c.949G>A p.Ala317Thr p.A317T ENST00000251296 NM_032880.4 317 Gcc/Acc 0 -IGSF3 UCSF GRCh37 1 117131413 117131413 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 9 12 0 ENST00000369486.3:c.2343C>T p.Tyr781= p.Y781= ENST00000369486 NM_001007237.2 781 taC/taT 0 -IGSF5 UCSF GRCh37 21 41142851 41142851 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 8 42 0 ENST00000380588.4:c.427G>A p.Glu143Lys p.E143K ENST00000380588 NM_001080444.1 143 Gag/Aag 0 -IKBKB UCSF GRCh37 8 42179941 42179941 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 56 41 49 0 ENST00000520810.1:c.1915G>A p.Asp639Asn p.D639N ENST00000520810 NM_001556.2 639 Gat/Aat 0 -IL12RB2 UCSF GRCh37 1 67796484 67796484 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 75 69 120 0 ENST00000262345.1:c.949C>T p.Pro317Ser p.P317S ENST00000262345 NM_001559.2 317 Cca/Tca 0 -IL13RA2 UCSF GRCh37 X 114245322 114245322 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 7 64 0 ENST00000243213.1:c.591C>T p.Cys197= p.C197= ENST00000243213 NM_000640.2 197 tgC/tgT 0 -IL1R1 UCSF GRCh37 2 102789257 102789257 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 19 77 0 ENST00000410023.1:c.950C>T p.Thr317Ile p.T317I ENST00000410023 317 aCa/aTa 0 -IL1R2 UCSF GRCh37 2 102626154 102626154 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 40 96 0 ENST00000332549.3:c.198C>T p.Asn66= p.N66= ENST00000332549 NM_004633.3 66 aaC/aaT 0 -IL1RAPL2 UCSF GRCh37 X 104728355 104728355 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 5 41 0 ENST00000372582.1:c.748C>T p.Pro250Ser p.P250S ENST00000372582 NM_017416.1 250 Cca/Tca 0 -IL1RN UCSF GRCh37 2 113885288 113885288 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 30 53 0 ENST00000409930.3:c.87G>A p.Gly29= p.G29= ENST00000409930 NM_173842.2 29 ggG/ggA 0 -IL26 UCSF GRCh37 12 68618974 68618974 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 91 11 102 0 ENST00000229134.4:c.318C>T p.Arg106= p.R106= ENST00000229134 NM_018402.1 106 cgC/cgT 0 -IL2RA UCSF GRCh37 10 6063440 6063440 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 22 49 0 ENST00000379959.3:c.583+1G>A p.X195_splice ENST00000379959 NM_000417.2 0 -IL3 UCSF GRCh37 5 131398045 131398045 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 142 40 97 0 ENST00000296870.2:c.245G>A p.Arg82Lys p.R82K ENST00000296870 NM_000588.3 82 aGg/aAg 0 -IL36B UCSF GRCh37 2 113788669 113788669 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 27 58 0 ENST00000259213.4:c.77G>A p.Gly26Glu p.G26E ENST00000259213 NM_014438.4 26 gGa/gAa 0 -IL6R UCSF GRCh37 1 154401885 154401885 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 5 21 0 ENST00000368485.3:c.299G>A p.Gly100Asp p.G100D ENST00000368485 NM_000565.3 100 gGc/gAc 0 -IMP5 UCSF GRCh37 17 43922988 43922988 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 17 28 0 ENST00000329196.5:c.716C>T p.Ala239Val p.A239V ENST00000329196 NM_175882.2 239 gCc/gTc 0 -INPP5D UCSF GRCh37 2 234085968 234085968 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 30 61 0 ENST00000445964.1:c.910G>A p.Val304Met p.V304M ENST00000445964 304 Gtg/Atg 0 -INPP5F UCSF GRCh37 10 121586293 121586293 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 25 119 0 ENST00000361976.2:c.2400C>T p.Leu800= p.L800= ENST00000361976 NM_014937.3 800 ctC/ctT 0 -INPPL1 UCSF GRCh37 11 71942216 71942216 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 16 50 0 ENST00000298229.2:c.1480G>A p.Asp494Asn p.D494N ENST00000298229 NM_001567.3 494 Gat/Aat 0 -INSM2 UCSF GRCh37 14 36004874 36004874 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 9 13 0 ENST00000307169.3:c.1416C>T p.Cys472= p.C472= ENST00000307169 NM_032594.3 472 tgC/tgT 0 -INSRR UCSF GRCh37 1 156819111 156819111 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 21 31 0 ENST00000368195.3:c.1371G>A p.Glu457= p.E457= ENST00000368195 NM_014215.2 457 gaG/gaA 0 -INTS1 UCSF GRCh37 7 1523477 1523477 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 5 25 0 ENST00000404767.3:c.3442G>A p.Asp1148Asn p.D1148N ENST00000404767 NM_001080453.2 1148 Gac/Aac 0 -IP6K3 UCSF GRCh37 6 33690912 33690912 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 76 9 44 0 ENST00000293756.4:c.818G>A p.Arg273Lys p.R273K ENST00000293756 NM_054111.4 273 aGa/aAa 0 -IPO11 UCSF GRCh37 5 61762983 61762983 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 28 97 0 ENST00000325324.6:c.542C>T p.Ala181Val p.A181V ENST00000325324 NM_016338.4 181 gCc/gTc 0 -IPO9 UCSF GRCh37 1 201823974 201823974 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 8 68 0 ENST00000361565.4:c.834C>T p.Asn278= p.N278= ENST00000361565 NM_018085.4 278 aaC/aaT 0 -IRAK3 UCSF GRCh37 12 66620604 66620604 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 109 26 130 0 ENST00000261233.4:c.755G>A p.Arg252Lys p.R252K ENST00000261233 NM_007199.2 252 aGa/aAa 0 -IREB2 UCSF GRCh37 15 78758799 78758799 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 6 78 0 ENST00000258886.8:c.597C>T p.Ile199= p.I199= ENST00000258886 NM_004136.2 199 atC/atT 0 -IRF2 UCSF GRCh37 4 185310032 185310032 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 13 71 0 ENST00000393593.3:c.930C>T p.Asp310= p.D310= ENST00000393593 NM_002199.3 310 gaC/gaT 0 -IRS4 UCSF GRCh37 X 107977413 107977413 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 60 7 39 0 ENST00000372129.2:c.2162C>T p.Ala721Val p.A721V ENST00000372129 NM_003604.2 721 gCt/gTt 0 -ISLR UCSF GRCh37 15 74467567 74467567 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 11 14 0 ENST00000249842.3:c.368C>T p.Ala123Val p.A123V ENST00000249842 NM_005545.3 123 gCc/gTc 0 -ISM1 UCSF GRCh37 20 13251231 13251231 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 38 86 0 ENST00000262487.4:c.219C>T p.Asp73= p.D73= ENST00000262487 NM_080826.1 73 gaC/gaT 0 -ITGA7 UCSF GRCh37 12 56092242 56092242 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 9 17 0 ENST00000555728.1:c.1249C>T p.Leu417Phe p.L417F ENST00000555728 417 Ctc/Ttc 0 -ITGA8 UCSF GRCh37 10 15617487 15617487 + splice_donor_variant Splice_Site SNP C C A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 10 38 1 ENST00000378076.3:c.2478+1G>T p.X826_splice ENST00000378076 NM_003638.1 0 -ITGA8 UCSF GRCh37 10 15639251 15639251 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 13 104 0 ENST00000378076.3:c.2166G>A p.Arg722= p.R722= ENST00000378076 NM_003638.1 722 agG/agA 0 -ITGAD UCSF GRCh37 16 31419115 31419115 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 9 25 0 ENST00000389202.2:c.887C>T p.Ala296Val p.A296V ENST00000389202 NM_005353.2 296 gCc/gTc 0 -ITGAL UCSF GRCh37 16 30507834 30507834 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 22 30 0 ENST00000356798.6:c.1779G>A p.Gly593= p.G593= ENST00000356798 NM_002209.2 593 ggG/ggA 0 -ITGAL UCSF GRCh37 16 30529162 30529162 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 9 43 0 ENST00000356798.6:c.3078G>A p.Arg1026= p.R1026= ENST00000356798 NM_002209.2 1026 agG/agA 0 -ITGAX UCSF GRCh37 16 31366602 31366602 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 3 14 0 ENST00000268296.4:c.27C>T p.Leu9= p.L9= ENST00000268296 NM_000887.3 9 ctC/ctT 0 -ITGB2 UCSF GRCh37 21 46311833 46311833 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 7 9 14 0 ENST00000302347.5:c.1303G>A p.Asp435Asn p.D435N ENST00000302347 NM_000211.3 435 Gac/Aac 0 -ITPKA UCSF GRCh37 15 41794648 41794648 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 12 13 0 ENST00000260386.5:c.1057G>A p.Glu353Lys p.E353K ENST00000260386 NM_002220.2 353 Gag/Aag 0 -IYD UCSF GRCh37 6 150713488 150713488 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 81 50 116 0 ENST00000344419.3:c.378C>T p.Ala126= p.A126= ENST00000344419 NM_203395.2 126 gcC/gcT 0 -JAKMIP1 UCSF GRCh37 4 6043926 6043926 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 49 76 0 ENST00000409021.3:c.2057C>T p.Ala686Val p.A686V ENST00000409021 NM_001099433.1 686 gCc/gTc 0 -JAKMIP1 UCSF GRCh37 4 6080714 6080714 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 10 21 0 ENST00000282924.5:c.1254G>A p.Arg418= p.R418= ENST00000282924 NM_144720.3 418 cgG/cgA 0 -JMJD1C UCSF GRCh37 10 64958453 64958453 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 31 75 0 ENST00000399262.2:c.5311G>A p.Asp1771Asn p.D1771N ENST00000399262 NM_032776.1 1771 Gat/Aat 0 -JRKL UCSF GRCh37 11 96123920 96123920 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 91 21 71 0 ENST00000332349.4:c.107G>A p.Gly36Glu p.G36E ENST00000332349 NM_001261833.1 36 gGa/gAa 0 -KANK1 UCSF GRCh37 9 732573 732573 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 42 94 0 ENST00000382297.2:c.3201G>A p.Met1067Ile p.M1067I ENST00000382297 NM_001256877.1 1067 atG/atA 0 -KAT5 UCSF GRCh37 11 65480933 65480933 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 4 14 0 ENST00000377046.3:c.400C>T p.Leu134Phe p.L134F ENST00000377046 NM_006388.3 134 Ctc/Ttc 0 -KCMF1 UCSF GRCh37 2 85276592 85276592 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 69 76 0 ENST00000409785.4:c.705G>A p.Gln235= p.Q235= ENST00000409785 NM_020122.4 235 caG/caA 0 -KCNC1 UCSF GRCh37 11 17794140 17794140 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 21 96 0 ENST00000379472.3:c.1499G>A p.Arg500Lys p.R500K ENST00000379472 NM_004976.4 500 aGa/aAa 0 -KCNC4 UCSF GRCh37 1 110765873 110765873 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 10 32 0 ENST00000369787.3:c.966C>T p.Ile322= p.I322= ENST00000369787 NM_004978.4 322 atC/atT 0 -KCNE1 UCSF GRCh37 21 35821789 35821789 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 12 19 0 ENST00000337385.3:c.144C>T p.Leu48= p.L48= ENST00000337385 NM_001270403.1 48 ctC/ctT 0 -KCNH2 UCSF GRCh37 7 150648065 150648065 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 7 14 0 ENST00000262186.5:c.2089C>T p.Leu697Phe p.L697F ENST00000262186 NM_000238.3 697 Ctc/Ttc 0 -KCNH6 UCSF GRCh37 17 61613299 61613299 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 3 16 0 ENST00000583023.1:c.1371C>T p.Pro457= p.P457= ENST00000583023 NM_030779.3 457 ccC/ccT 0 -KCNJ1 UCSF GRCh37 11 128709396 128709396 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 37 81 0 ENST00000392664.2:c.800C>T p.Thr267Ile p.T267I ENST00000392664 NM_000220.4 267 aCa/aTa 0 -KCNJ13 UCSF GRCh37 2 233633281 233633281 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 103 18 90 0 ENST00000233826.3:c.703C>T p.Pro235Ser p.P235S ENST00000233826 NM_002242.4 235 Cca/Tca 0 -KCNJ5 UCSF GRCh37 11 128781514 128781514 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 60 12 78 0 ENST00000338350.4:c.346G>A p.Gly116Ser p.G116S ENST00000338350 116 Ggt/Agt 0 -KCNK3 UCSF GRCh37 2 26950561 26950561 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 26 57 0 ENST00000302909.3:c.310G>A p.Asp104Asn p.D104N ENST00000302909 NM_002246.2 104 Gat/Aat 0 -KCNK6 UCSF GRCh37 19 38817548 38817548 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 18 57 0 ENST00000263372.3:c.638C>T p.Ser213Phe p.S213F ENST00000263372 NM_004823.1 213 tCc/tTc 0 -KCNK6 UCSF GRCh37 19 38817379 38817379 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 30 61 0 ENST00000263372.3:c.469C>T p.Leu157= p.L157= ENST00000263372 NM_004823.1 157 Ctg/Ttg 0 -KCNMA1 UCSF GRCh37 10 79397125 79397125 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 5 9 0 ENST00000286628.8:c.276C>T p.Ala92= p.A92= ENST00000286628 NM_001161352.1 92 gcC/gcT 0 -KCNQ3 UCSF GRCh37 8 133192525 133192525 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 5 26 0 ENST00000388996.4:c.656G>A p.Gly219Asp p.G219D ENST00000388996 NM_004519.3 219 gGc/gAc 0 -KCTD18 UCSF GRCh37 2 201369581 201369581 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 9 60 0 ENST00000359878.3:c.262C>T p.Leu88= p.L88= ENST00000359878 NM_152387.2 88 Cta/Tta 0 -KDM6B UCSF GRCh37 17 7755606 7755606 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 3 23 0 ENST00000448097.2:c.4420G>A p.Ala1474Thr p.A1474T ENST00000448097 1474 Gcc/Acc 0 -KDM6B UCSF GRCh37 17 7750671 7750671 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 13 18 0 ENST00000448097.2:c.1158C>T p.Ala386= p.A386= ENST00000448097 386 gcC/gcT 0 -KHDRBS1 UCSF GRCh37 1 32503455 32503455 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 43 87 0 ENST00000327300.7:c.925C>T p.Pro309Ser p.P309S ENST00000327300 NM_006559.2 309 Cct/Tct 0 -KHDRBS1 UCSF GRCh37 1 32498872 32498872 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 24 69 0 ENST00000327300.7:c.708C>T p.Pro236= p.P236= ENST00000327300 NM_006559.2 236 ccC/ccT 0 -KHDRBS2 UCSF GRCh37 6 62611213 62611213 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 27 79 0 ENST00000281156.4:c.547G>A p.Asp183Asn p.D183N ENST00000281156 NM_152688.2 183 Gac/Aac 0 -KHSRP UCSF GRCh37 19 6416415 6416415 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 9 12 0 ENST00000398148.3:c.1492C>T p.Pro498Ser p.P498S ENST00000398148 NM_003685.2 498 Cct/Tct 0 -BLTP2 UCSF GRCh37 17 26962186 26962186 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 77 54 126 1 ENST00000528896.2:c.2419C>T p.Pro807Ser p.P807S ENST00000528896 NM_014680.3 807 Cct/Tct 0 -KIAA0226 UCSF GRCh37 3 197401911 197401911 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 3 19 0 ENST00000296343.5:c.2897C>T p.Ala966Val p.A966V ENST00000296343 NM_014687.1 966 gCc/gTc 0 -KIAA0319L UCSF GRCh37 1 35972241 35972241 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 108 27 108 0 ENST00000325722.3:c.638G>A p.Gly213Asp p.G213D ENST00000325722 NM_024874.4 213 gGt/gAt 0 -KIAA0513 UCSF GRCh37 16 85121913 85121913 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 21 36 0 ENST00000258180.3:c.1218G>A p.Glu406= p.E406= ENST00000258180 NM_014732.2 406 gaG/gaA 0 -KIAA0564 UCSF GRCh37 13 42164844 42164844 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 32 58 0 ENST00000379310.3:c.5044G>A p.Ala1682Thr p.A1682T ENST00000379310 NM_015058.1 1682 Gcc/Acc 0 -KIAA0586 UCSF GRCh37 14 58965622 58965622 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 89 24 100 0 ENST00000354386.6:c.4271C>T p.Ser1424Phe p.S1424F ENST00000354386 NM_001244189.1 1424 tCt/tTt 0 -KIAA1033 UCSF GRCh37 12 105527557 105527557 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 67 120 0 ENST00000332180.5:c.1209G>A p.Gln403= p.Q403= ENST00000332180 NM_015275.1 403 caG/caA 0 -KIAA1191 UCSF GRCh37 5 175777694 175777694 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 28 33 0 ENST00000298569.4:c.381G>A p.Leu127= p.L127= ENST00000298569 NM_020444.3 127 ctG/ctA 0 -KIAA1239 UCSF GRCh37 4 37327621 37327621 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 30 91 0 ENST00000309447.5:c.215G>A p.Arg72Lys p.R72K ENST00000309447 NM_001144990.1 72 aGa/aAa 0 -KIAA1244 UCSF GRCh37 6 138655542 138655542 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 30 35 0 ENST00000251691.4:c.5559G>A p.Gln1853= p.Q1853= ENST00000251691 NM_020340.4 1853 caG/caA 0 -KIAA1539 UCSF GRCh37 9 35107943 35107943 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 5 27 0 ENST00000322813.5:c.329G>A p.Gly110Glu p.G110E ENST00000322813 NM_025182.2 110 gGa/gAa 0 -KIAA1715 UCSF GRCh37 2 176804319 176804319 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 26 70 0 ENST00000272748.4:c.773G>A p.Arg258Lys p.R258K ENST00000272748 NM_030650.1 258 aGa/aAa 0 -KIAA1751 UCSF GRCh37 1 1887143 1887143 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 10 80 0 ENST00000493964.1:c.12G>A p.Glu4= p.E4= ENST00000493964 4 gaG/gaA 0 -KIAA1755 UCSF GRCh37 20 36867969 36867969 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 13 37 0 ENST00000279024.4:c.1708G>A p.Gly570Ser p.G570S ENST00000279024 NM_001029864.1 570 Ggt/Agt 0 -KIAA1755 UCSF GRCh37 20 36870058 36870058 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 14 77 0 ENST00000279024.4:c.475G>A p.Gly159Arg p.G159R ENST00000279024 NM_001029864.1 159 Gga/Aga 0 -KIAA1958 UCSF GRCh37 9 115422322 115422322 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 8 23 0 ENST00000337530.6:c.2124G>A p.Arg708= p.R708= ENST00000337530 NM_001287038.1 708 agG/agA 0 -KIF13B UCSF GRCh37 8 28984764 28984764 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 63 132 0 ENST00000524189.1:c.3097G>A p.Val1033Ile p.V1033I ENST00000524189 NM_015254.3 1033 Gtc/Atc 0 -KIF18A UCSF GRCh37 11 28058011 28058011 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 104 12 101 0 ENST00000263181.6:c.2149C>T p.Pro717Ser p.P717S ENST00000263181 NM_031217.3 717 Ccg/Tcg 0 -KIF1C UCSF GRCh37 17 4925549 4925549 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 8 15 0 ENST00000320785.5:c.2173G>A p.Val725Ile p.V725I ENST00000320785 NM_006612.5 725 Gtt/Att 0 -KIF2C UCSF GRCh37 1 45223768 45223768 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 27 49 0 ENST00000372224.4:c.1180G>A p.Gly394Ser p.G394S ENST00000372224 NM_006845.3 394 Ggc/Agc 0 -KIF3C UCSF GRCh37 2 26204031 26204031 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 7 10 15 0 ENST00000264712.3:c.756G>A p.Arg252= p.R252= ENST00000264712 NM_002254.6 252 agG/agA 0 -KIF4A UCSF GRCh37 X 69561757 69561757 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 8 45 0 ENST00000374403.3:c.1242C>T p.Ala414= p.A414= ENST00000374403 NM_012310.4 414 gcC/gcT 0 -KLHDC2 UCSF GRCh37 14 50247481 50247481 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 56 25 101 0 ENST00000298307.5:c.944C>T p.Thr315Ile p.T315I ENST00000298307 NM_014315.2 315 aCc/aTc 0 -KLHL13 UCSF GRCh37 X 117053549 117053549 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 46 68 0 ENST00000262820.3:c.505G>A p.Glu169Lys p.E169K ENST00000262820 NM_033495.3 169 Gaa/Aaa 0 -KLHL25 UCSF GRCh37 15 86312642 86312642 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 5 21 0 ENST00000337975.5:c.400G>A p.Asp134Asn p.D134N ENST00000337975 NM_022480.3 134 Gat/Aat 0 -KLK7 UCSF GRCh37 19 51483713 51483713 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 6 10 18 0 ENST00000391807.1:c.252G>A p.Thr84= p.T84= ENST00000391807 NM_139277.2 84 acG/acA 0 -KLRAQ1 UCSF GRCh37 2 48718230 48718230 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 37 79 0 ENST00000294952.8:c.1520G>A p.Gly507Glu p.G507E ENST00000294952 NM_001135629.2 507 gGa/gAa 0 -KLRC4-KLRK1 UCSF GRCh37 12 10525748 10525748 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 36 66 0 ENST00000240618.6:c.616C>T p.Pro206Ser p.P206S ENST00000240618 NM_007360.3 206 Cca/Tca 0 -KRBA2 UCSF GRCh37 17 8273222 8273222 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 95 21 74 0 ENST00000331336.2:c.709C>T p.Gln237Ter p.Q237* ENST00000331336 NM_213597.2 237 Cag/Tag 0 -KREMEN1 UCSF GRCh37 22 29533386 29533386 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 64 10 45 0 ENST00000407188.1:c.682C>T p.Pro228Ser p.P228S ENST00000407188 228 Cct/Tct 0 -KRI1 UCSF GRCh37 19 10672368 10672368 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 12 70 0 ENST00000312962.6:c.481G>A p.Glu161Lys p.E161K ENST00000312962 NM_023008.3 161 Gag/Aag 0 -KRT31 UCSF GRCh37 17 39552765 39552765 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 23 13 33 0 ENST00000251645.2:c.495C>T p.Ile165= p.I165= ENST00000251645 NM_002277.2 165 atC/atT 0 -KRT34 UCSF GRCh37 17 39534360 39534360 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 10 33 0 ENST00000394001.1:c.1262G>A p.Gly421Asp p.G421D ENST00000394001 NM_021013.3 421 gGc/gAc 0 -KRT5 UCSF GRCh37 12 52909602 52909602 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 25 70 0 ENST00000252242.4:c.1454G>A p.Gly485Glu p.G485E ENST00000252242 NM_000424.3 485 gGa/gAa 0 -KRT6B UCSF GRCh37 12 52845458 52845458 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 80 33 73 0 ENST00000252252.3:c.405C>T p.Ile135= p.I135= ENST00000252252 NM_005555.3 135 atC/atT 0 -KRT85 UCSF GRCh37 12 52756677 52756677 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 28 46 0 ENST00000257901.3:c.1038C>T p.Ile346= p.I346= ENST00000257901 NM_002283.3 346 atC/atT 0 -KRTAP1-5 UCSF GRCh37 17 39183012 39183012 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 5 28 0 ENST00000361883.5:c.396C>T p.Pro132= p.P132= ENST00000361883 NM_031957.1 132 ccC/ccT 0 -KRTAP10-7 UCSF GRCh37 21 46021353 46021353 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 73 12 54 0 ENST00000380102.2:c.832C>T p.Pro278Ser p.P278S ENST00000380102 NM_198689.2 278 Cct/Tct 0 -KRTAP5-4 UCSF GRCh37 11 1642838 1642838 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 12 48 0 ENST00000399682.1:c.486G>A p.Lys162= p.K162= ENST00000399682 NM_001012709.1 162 aaG/aaA 0 -KRTAP6-3 UCSF GRCh37 21 31965042 31965042 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 9 22 0 ENST00000391624.1:c.257G>A p.Gly86Asp p.G86D ENST00000391624 NM_181605.3 86 gGc/gAc 0 -KSR1 UCSF GRCh37 17 25932612 25932612 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 3 11 0 ENST00000398988.3:c.1422G>A p.Glu474= p.E474= ENST00000398988 NM_014238.1 474 gaG/gaA 0 -LAMA1 UCSF GRCh37 18 6999530 6999530 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 7 23 0 ENST00000389658.3:c.4577G>A p.Gly1526Glu p.G1526E ENST00000389658 NM_005559.3 1526 gGg/gAg 0 -LAMA1 UCSF GRCh37 18 7034641 7034641 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 24 78 0 ENST00000389658.3:c.1888C>T p.Pro630Ser p.P630S ENST00000389658 NM_005559.3 630 Cct/Tct 0 -LAMA2 UCSF GRCh37 6 129636958 129636958 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 72 29 111 0 ENST00000421865.2:c.3787G>A p.Glu1263Lys p.E1263K ENST00000421865 NM_001079823.1 1263 Gaa/Aaa 0 -LAMA2 UCSF GRCh37 6 129581855 129581855 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 97 16 73 0 ENST00000421865.2:c.2097-1G>A p.X699_splice ENST00000421865 NM_001079823.1 0 -LAMB1 UCSF GRCh37 7 107621127 107621127 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 37 81 0 ENST00000222399.6:c.806G>A p.Gly269Glu p.G269E ENST00000222399 NM_002291.2 269 gGa/gAa 0 -LAMB1 UCSF GRCh37 7 107591753 107591753 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 9 21 0 ENST00000222399.6:c.3309C>T p.Cys1103= p.C1103= ENST00000222399 NM_002291.2 1103 tgC/tgT 0 -LAMC2 UCSF GRCh37 1 183184600 183184600 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 13 42 0 ENST00000264144.4:c.281C>T p.Ala94Val p.A94V ENST00000264144 NM_005562.2 94 gCt/gTt 0 -LANCL3 UCSF GRCh37 X 37515001 37515001 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 22 13 36 0 ENST00000378619.3:c.634T>C p.Tyr212His p.Y212H ENST00000378619 NM_001170331.1 212 Tat/Cat 0 -LARGE UCSF GRCh37 22 34157444 34157444 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 28 83 0 ENST00000354992.2:c.20G>A p.Gly7Glu p.G7E ENST00000354992 NM_004737.4 7 gGg/gAg 0 -LCAT UCSF GRCh37 16 67976808 67976808 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 9 39 0 ENST00000264005.5:c.383G>A p.Gly128Asp p.G128D ENST00000264005 NM_000229.1 128 gGc/gAc 0 -LCLAT1 UCSF GRCh37 2 30790968 30790968 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 16 86 0 ENST00000309052.4:c.668G>A p.Gly223Glu p.G223E ENST00000309052 NM_182551.3 223 gGa/gAa 0 -LCN10 UCSF GRCh37 9 139635381 139635381 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 6 17 0 ENST00000474369.1:c.343G>A p.Ala115Thr p.A115T ENST00000474369 115 Gcc/Acc 0 -LCN2 UCSF GRCh37 9 130911921 130911921 + synonymous_variant Silent SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 59 14 23 0 ENST00000277480.2:c.117G>A p.Gln39= p.Q39= ENST00000277480 NM_005564.3 39 caG/caA 0 -LDHB UCSF GRCh37 12 21788613 21788613 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 59 21 63 0 ENST00000350669.1:c.868C>T p.Leu290= p.L290= ENST00000350669 NM_002300.6 290 Ctg/Ttg 0 -LEO1 UCSF GRCh37 15 52252231 52252231 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 36 69 0 ENST00000299601.5:c.1025G>A p.Gly342Glu p.G342E ENST00000299601 NM_138792.2 342 gGa/gAa 0 -LFNG UCSF GRCh37 7 2552829 2552829 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 105 15 77 0 ENST00000402506.1:c.86G>A p.Arg29Lys p.R29K ENST00000402506 NM_001166355.1 29 aGg/aAg 0 -LGALS12 UCSF GRCh37 11 63283765 63283765 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 8 14 0 ENST00000394618.3:c.911G>A p.Gly304Glu p.G304E ENST00000394618 NM_033101.3 304 gGg/gAg 0 -LGALS3 UCSF GRCh37 14 55604841 55604841 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 15 27 0 ENST00000254301.9:c.97G>A p.Ala33Thr p.A33T ENST00000254301 NM_002306.3 33 Gca/Aca 0 -LGI1 UCSF GRCh37 10 95557376 95557376 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 83 11 103 0 ENST00000371418.4:c.1490C>T p.Ser497Phe p.S497F ENST00000371418 NM_005097.2 497 tCc/tTc 0 -LGI3 UCSF GRCh37 8 22006117 22006117 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 6 9 0 ENST00000306317.2:c.1203C>T p.Ile401= p.I401= ENST00000306317 NM_139278.2 401 atC/atT 0 -LIG1 UCSF GRCh37 19 48665530 48665530 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 23 155 0 ENST00000263274.7:c.96G>A p.Glu32= p.E32= ENST00000263274 NM_000234.1 32 gaG/gaA 0 -LIMK2 UCSF GRCh37 22 31668561 31668561 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 9 48 0 ENST00000331728.4:c.1429G>A p.Val477Met p.V477M ENST00000331728 NM_005569.3 477 Gtg/Atg 0 -LIPE UCSF GRCh37 19 42911853 42911853 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 4 8 0 ENST00000244289.4:c.1747C>T p.Pro583Ser p.P583S ENST00000244289 NM_005357.2 583 Ccc/Tcc 0 -LLPH UCSF GRCh37 12 66517628 66517628 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 124 16 164 0 ENST00000266604.2:c.382G>A p.Ala128Thr p.A128T ENST00000266604 NM_032338.3 128 Gcc/Acc 0 -LNP1 UCSF GRCh37 3 100174747 100174747 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0011 P01_Rec Untested WXS Illumina HiSeq 47 12 116 0 ENST00000383693.3:c.514C>T p.Leu172= p.L172= ENST00000383693 NM_001085451.1 172 Ctg/Ttg 0 -LNX1 UCSF GRCh37 4 54424114 54424114 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 15 27 0 ENST00000263925.7:c.380+15676C>T *127* ENST00000263925 NM_001126328.2 0 -LOC100289561 UCSF GRCh37 7 102016320 102016320 + 5_prime_UTR_variant 5'UTR SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 47 72 0 ENST00000496391.1:c.-623G>A *208* ENST00000496391 0 -LOC200726 UCSF GRCh37 2 207509296 207509296 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 3 13 0 ENST00000543490.1:n.511C>T *171* ENST00000543490 0 -HLA-V UCSF GRCh37 6 29759888 29759888 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 15 23 0 ENST00000320533.2:n.961G>A *321* ENST00000320533 0 -LPA UCSF GRCh37 6 160968838 160968838 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 86 11 89 0 ENST00000316300.5:c.5287G>A p.Ala1763Thr p.A1763T ENST00000316300 1763 Gca/Aca 0 -LPA UCSF GRCh37 6 161026196 161026196 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 95 151 0 ENST00000316300.5:c.2827G>A p.Gly943Arg p.G943R ENST00000316300 943 Gga/Aga 0 -LPCAT4 UCSF GRCh37 15 34657243 34657243 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 13 27 0 ENST00000314891.6:c.444C>T p.Ser148= p.S148= ENST00000314891 NM_153613.2 148 tcC/tcT 0 -LPHN2 UCSF GRCh37 1 82435041 82435041 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 73 57 111 0 ENST00000370717.2:c.2691C>T p.Phe897= p.F897= ENST00000370717 897 ttC/ttT 0 -LPHN3 UCSF GRCh37 4 62758677 62758677 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 17 56 0 ENST00000514591.1:c.1579+1G>A p.X527_splice ENST00000514591 0 -LPIN1 UCSF GRCh37 2 11922351 11922351 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 84 32 82 0 ENST00000256720.2:c.874G>A p.Glu292Lys p.E292K ENST00000256720 NM_145693.2 292 Gag/Aag 0 -LRBA UCSF GRCh37 4 151765869 151765869 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 7 30 77 0 ENST00000357115.3:c.4402G>A p.Gly1468Arg p.G1468R ENST00000357115 NM_006726.4 1468 Gga/Aga 0 -LRBA UCSF GRCh37 4 151818947 151818947 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 6 43 0 ENST00000357115.3:c.1948G>A p.Glu650Lys p.E650K ENST00000357115 NM_006726.4 650 Gaa/Aaa 0 -LRFN3 UCSF GRCh37 19 36431118 36431118 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0018 P01_Rec Untested WXS Illumina HiSeq 17 9 10 0 ENST00000246529.3:c.791C>T p.Ala264Val p.A264V ENST00000246529 NM_024509.1 264 gCg/gTg 0 -LRIF1 UCSF GRCh37 1 111494283 111494283 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 127 76 137 0 ENST00000369763.4:c.1223C>T p.Ser408Phe p.S408F ENST00000369763 NM_018372.3 408 tCc/tTc 0 -LRIG1 UCSF GRCh37 3 66434672 66434672 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 28 74 0 ENST00000273261.3:c.1814C>T p.Pro605Leu p.P605L ENST00000273261 NM_015541.2 605 cCc/cTc 0 -LRIG2 UCSF GRCh37 1 113655109 113655109 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 90 57 110 0 ENST00000361127.5:c.1807T>C p.Ser603Pro p.S603P ENST00000361127 NM_014813.1 603 Tct/Cct 0 -LRIT2 UCSF GRCh37 10 85982122 85982122 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 18 28 0 ENST00000372113.4:c.1207G>A p.Ala403Thr p.A403T ENST00000372113 NM_001017924.2 403 Gcc/Acc 0 -LRP2 UCSF GRCh37 2 170094605 170094605 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 19 39 0 ENST00000263816.3:c.4502G>A p.Arg1501Lys p.R1501K ENST00000263816 NM_004525.2 1501 aGa/aAa 0 -LRRC39 UCSF GRCh37 1 100620671 100620671 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 30 130 0 ENST00000342895.3:c.748C>T p.Leu250Phe p.L250F ENST00000342895 NM_001256387.1 250 Ctt/Ttt 0 -LRRC39 UCSF GRCh37 1 100620731 100620731 + missense_variant Missense_Mutation SNP G G C NOVEL P01_Rec Untested WXS Illumina HiSeq 33 9 74 1 ENST00000342895.3:c.688C>G p.Gln230Glu p.Q230E ENST00000342895 NM_001256387.1 230 Caa/Gaa 0 -LRRFIP1 UCSF GRCh37 2 238672239 238672240 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 0 ENST00000392000.4:c.1886dup p.Asn629LysfsTer12 p.N629Kfs*12 ENST00000392000 NM_001137552.1 628 gaa/gaAa 0 -LTF UCSF GRCh37 3 46492162 46492162 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 6 14 33 0 ENST00000231751.4:c.705G>A p.Glu235= p.E235= ENST00000231751 NM_002343.3 235 gaG/gaA 0 -LUZP1 UCSF GRCh37 1 23418565 23418565 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 101 63 109 0 ENST00000302291.4:c.2190C>T p.Leu730= p.L730= ENST00000302291 730 ctC/ctT 0 -LYG2 UCSF GRCh37 2 99870748 99870748 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 11 54 0 ENST00000333017.2:c.-25G>A p.X9_splice ENST00000333017 NM_175735.3 0 -LYPD3 UCSF GRCh37 19 43965763 43965763 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 3 17 0 ENST00000244333.3:c.781G>A p.Ala261Thr p.A261T ENST00000244333 NM_014400.2 261 Gcc/Acc 0 -LYST UCSF GRCh37 1 235933476 235933476 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 48 100 0 ENST00000389793.2:c.5906C>T p.Thr1969Ile p.T1969I ENST00000389793 NM_000081.3 1969 aCt/aTt 0 -MACC1 UCSF GRCh37 7 20199857 20199857 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 64 13 65 0 ENST00000332878.4:c.127C>T p.Pro43Ser p.P43S ENST00000332878 43 Cca/Tca 0 -MACC1 UCSF GRCh37 7 20193893 20193893 + synonymous_variant Silent SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 44 32 58 0 ENST00000332878.4:c.2269T>C p.Leu757= p.L757= ENST00000332878 757 Tta/Cta 0 -MADD UCSF GRCh37 11 47305933 47305933 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 13 50 0 ENST00000311027.5:c.1974C>T p.Asp658= p.D658= ENST00000311027 NM_003682.3 658 gaC/gaT 0 -MAGEC1 UCSF GRCh37 X 140994939 140994939 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 87 57 0 ENST00000285879.4:c.1749C>T p.Ser583= p.S583= ENST00000285879 NM_005462.4 583 agC/agT 0 -MAGI1 UCSF GRCh37 3 65416464 65416464 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 10 68 0 ENST00000402939.2:c.1456G>A p.Val486Met p.V486M ENST00000402939 NM_001033057.1 486 Gtg/Atg 0 -MAGI1 UCSF GRCh37 3 65456070 65456070 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 12 66 0 ENST00000402939.2:c.847C>T p.Pro283Ser p.P283S ENST00000402939 NM_001033057.1 283 Cct/Tct 0 -MAML1 UCSF GRCh37 5 179201692 179201692 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 12 33 0 ENST00000292599.3:c.2865G>A p.Leu955= p.L955= ENST00000292599 NM_014757.4 955 ctG/ctA 0 -MAML3 UCSF GRCh37 4 140812018 140812018 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 14 81 0 ENST00000509479.2:c.572G>A p.Arg191Gln p.R191Q ENST00000509479 NM_018717.4 191 cGa/cAa 0 -MAMLD1 UCSF GRCh37 X 149638978 149638978 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 9 38 29 0 ENST00000262858.5:c.1133G>A p.Ser378Asn p.S378N ENST00000262858 NM_005491.3 378 aGc/aAc 0 -MAN1B1 UCSF GRCh37 9 139995469 139995469 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 122 20 39 0 ENST00000371589.4:c.929C>T p.Ala310Val p.A310V ENST00000371589 NM_016219.4 310 gCc/gTc 0 -MAP1B UCSF GRCh37 5 71492237 71492237 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 17 34 0 ENST00000296755.7:c.3055G>A p.Glu1019Lys p.E1019K ENST00000296755 NM_005909.3 1019 Gag/Aag 0 -MAP1B UCSF GRCh37 5 71492669 71492669 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 44 8 46 0 ENST00000296755.7:c.3487A>G p.Thr1163Ala p.T1163A ENST00000296755 NM_005909.3 1163 Acc/Gcc 0 -MAP2K1 UCSF GRCh37 15 66735651 66735651 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 21 64 0 ENST00000307102.5:c.472G>A p.Ala158Thr p.A158T ENST00000307102 NM_002755.3 158 Gct/Act 0 -MAP2K5 UCSF GRCh37 15 67873162 67873162 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 80 10 107 0 ENST00000178640.5:c.322+1G>A p.X108_splice ENST00000178640 NM_145160.2 0 -MAP3K1 UCSF GRCh37 5 56178158 56178158 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 79 12 102 0 ENST00000399503.3:c.3131C>T p.Pro1044Leu p.P1044L ENST00000399503 NM_005921.1 1044 cCa/cTa 0 -MAP3K14 UCSF GRCh37 17 43364087 43364087 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 7 24 0 ENST00000344686.2:n.969C>T *323* ENST00000344686 0 -MAP3K9 UCSF GRCh37 14 71197444 71197444 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 11 31 0 ENST00000554752.2:c.2968G>A p.Glu990Lys p.E990K ENST00000554752 NM_001284230.1 990 Gag/Aag 0 -MAPK8IP3 UCSF GRCh37 16 1817179 1817179 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 6 18 0 ENST00000250894.4:c.3115C>T p.Leu1039= p.L1039= ENST00000250894 NM_015133.3 1039 Cta/Tta 0 -MARCH3 UCSF GRCh37 5 126214081 126214081 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 10 14 0 ENST00000308660.5:c.399G>A p.Leu133= p.L133= ENST00000308660 NM_178450.4 133 ctG/ctA 0 -MARK1 UCSF GRCh37 1 220805553 220805553 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 121 24 165 0 ENST00000366917.4:c.1020C>T p.Val340= p.V340= ENST00000366917 NM_001286124.1 340 gtC/gtT 0 -MASP1 UCSF GRCh37 3 186961306 186961306 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 7 73 0 ENST00000337774.5:c.1194G>A p.Gln398= p.Q398= ENST00000337774 NM_001879.5 398 caG/caA 0 -MAT1A UCSF GRCh37 10 82036304 82036304 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 42 46 0 ENST00000372213.3:c.596G>A p.Arg199His p.R199H ENST00000372213 NM_000429.2 199 cGc/cAc 0 -MBD2 UCSF GRCh37 18 51729304 51729304 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 129 17 92 0 ENST00000256429.3:c.702+2064C>T *234* ENST00000256429 NM_003927.4 0 -MCTS1 UCSF GRCh37 X 119742162 119742162 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 8 43 0 ENST00000371317.5:c.345C>T p.Gly115= p.G115= ENST00000371317 NM_014060.2 115 ggC/ggT 0 -MDGA1 UCSF GRCh37 6 37612308 37612308 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 7 21 0 ENST00000434837.3:c.2366C>T p.Thr789Ile p.T789I ENST00000434837 NM_153487.3 789 aCt/aTt 0 -MDM1 UCSF GRCh37 12 68724946 68724946 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 116 58 138 0 ENST00000303145.7:c.74C>T p.Ser25Phe p.S25F ENST00000303145 NM_017440.4 25 tCt/tTt 0 -MDN1 UCSF GRCh37 6 90353891 90353891 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 23 55 0 ENST00000369393.3:c.16624G>A p.Val5542Ile p.V5542I ENST00000369393 5542 Gta/Ata 0 -MECOM UCSF GRCh37 3 168834238 168834238 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 47 75 0 ENST00000468789.1:c.858G>A p.Arg286= p.R286= ENST00000468789 NM_001105078.3 286 agG/agA 0 -MED23 UCSF GRCh37 6 131944578 131944578 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 27 55 0 ENST00000368068.3:c.309C>T p.Asn103= p.N103= ENST00000368068 NM_004830.3 103 aaC/aaT 0 -MED6 UCSF GRCh37 14 71063384 71063384 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 14 49 0 ENST00000256379.5:c.218C>T p.Ala73Val p.A73V ENST00000256379 NM_005466.2 73 gCt/gTt 0 -MEF2D UCSF GRCh37 1 156453081 156453081 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 64 8 47 0 ENST00000348159.4:c.4G>A p.Gly2Arg p.G2R ENST00000348159 NM_005920.3 2 Ggg/Agg 0 -MEGF11 UCSF GRCh37 15 66206268 66206268 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 6 28 0 ENST00000409699.2:c.2517C>T p.Ser839= p.S839= ENST00000409699 839 agC/agT 0 -MEGF9 UCSF GRCh37 9 123370235 123370235 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 157 37 128 0 ENST00000373930.3:c.1141C>T p.Pro381Ser p.P381S ENST00000373930 NM_001080497.2 381 Ccg/Tcg 0 -METTL21D UCSF GRCh37 14 50583152 50583152 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 7 7 15 0 ENST00000395860.2:c.119G>A p.Cys40Tyr p.C40Y ENST00000395860 NM_024558.2 40 tGc/tAc 0 -METTL22 UCSF GRCh37 16 8729153 8729153 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 3 18 0 ENST00000381920.3:c.684G>A p.Arg228= p.R228= ENST00000381920 NM_024109.2 228 cgG/cgA 0 -MFGE8 UCSF GRCh37 15 89444857 89444857 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 5 23 0 ENST00000268150.8:c.795C>T p.Ser265= p.S265= ENST00000268150 NM_005928.2 265 tcC/tcT 0 -MFN1 UCSF GRCh37 3 179096384 179096384 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 6 37 0 ENST00000471841.1:c.1444C>T p.Pro482Ser p.P482S ENST00000471841 NM_033540.2 482 Cca/Tca 0 -MFSD11 UCSF GRCh37 17 74771222 74771222 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 79 20 73 0 ENST00000336509.4:c.1018G>A p.Gly340Arg p.G340R ENST00000336509 NM_001242533.1 340 Gga/Aga 0 -MFSD6L UCSF GRCh37 17 8700813 8700813 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 9 17 0 ENST00000329805.4:c.1626G>A p.Gln542= p.Q542= ENST00000329805 NM_152599.3 542 caG/caA 0 -MGAM UCSF GRCh37 7 141734145 141734145 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 9 50 0 ENST00000549489.2:c.1753C>T p.Leu585= p.L585= ENST00000549489 NM_004668.2 585 Ctg/Ttg 0 -MGAT5 UCSF GRCh37 2 135185983 135185983 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 16 46 0 ENST00000281923.2:c.1842G>A p.Gln614= p.Q614= ENST00000281923 NM_002410.4 614 caG/caA 0 -MGLL UCSF GRCh37 3 127441406 127441406 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 9 25 0 ENST00000398104.1:c.236G>A p.Gly79Asp p.G79D ENST00000398104 NM_001003794.2 79 gGc/gAc 0 -MICAL1 UCSF GRCh37 6 109770019 109770019 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 20 45 0 ENST00000358807.3:c.1580G>A p.Gly527Glu p.G527E ENST00000358807 NM_022765.3 527 gGa/gAa 0 -MICALL1 UCSF GRCh37 22 38318007 38318007 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 11 12 0 ENST00000215957.6:c.598C>T p.Pro200Ser p.P200S ENST00000215957 NM_033386.3 200 Cct/Tct 0 -MICB UCSF GRCh37 6 31473641 31473641 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 6 22 0 ENST00000252229.6:c.318G>A p.Gln106= p.Q106= ENST00000252229 NM_005931.3 106 caG/caA 0 -MICU1 UCSF GRCh37 10 74183121 74183121 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 100 65 107 0 ENST00000361114.5:c.942C>T p.Arg314= p.R314= ENST00000361114 NM_001195518.1 314 cgC/cgT 0 -MLH1 UCSF GRCh37 3 37090054 37090054 + missense_variant Missense_Mutation SNP C C T snp132_rs63750610 P01_Rec somatic WXS Sanger Illumina HiSeq 5 18 44 0 ENST00000231790.2:c.1943C>T p.Pro648Leu p.P648L ENST00000231790 NM_000249.3 648 cCc/cTc 0 -MLH3 UCSF GRCh37 14 75513566 75513566 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 156 21 198 0 ENST00000355774.2:c.2793G>A p.Glu931= p.E931= ENST00000355774 NM_001040108.1 931 gaG/gaA 0 -MLL UCSF GRCh37 11 118352750 118352750 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 27 48 0 ENST00000389506.5:c.3955G>A p.Val1319Ile p.V1319I ENST00000389506 1319 Gtt/Att 0 -MLL UCSF GRCh37 11 118366480 118366480 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 40 16 75 0 ENST00000389506.5:c.5420A>G p.Glu1807Gly p.E1807G ENST00000389506 1807 gAg/gGg 0 -MLL2 UCSF GRCh37 12 49436538 49436538 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 44 67 0 ENST00000301067.7:c.5768G>A p.Arg1923Lys p.R1923K ENST00000301067 NM_003482.3 1923 aGg/aAg 0 -MLL2 UCSF GRCh37 12 49448494 49448494 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 12 28 0 ENST00000301067.7:c.217G>A p.Glu73Lys p.E73K ENST00000301067 NM_003482.3 73 Gag/Aag 0 -MLL2 UCSF GRCh37 12 49440104 49440104 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 28 40 0 ENST00000301067.7:c.4522C>T p.Pro1508Ser p.P1508S ENST00000301067 NM_003482.3 1508 Cct/Tct 0 -MLL2 UCSF GRCh37 12 49433798 49433798 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 5 29 0 ENST00000301067.7:c.7755G>A p.Gly2585= p.G2585= ENST00000301067 NM_003482.3 2585 ggG/ggA 0 -MLL3 UCSF GRCh37 7 151874749 151874749 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 12 69 0 ENST00000262189.6:c.7789C>T p.Pro2597Ser p.P2597S ENST00000262189 NM_170606.2 2597 Cca/Tca 0 -MLL3 UCSF GRCh37 7 151874636 151874636 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 92 18 64 0 ENST00000262189.6:c.7902G>A p.Glu2634= p.E2634= ENST00000262189 NM_170606.2 2634 gaG/gaA 0 -MLL5 UCSF GRCh37 7 104745979 104745979 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 17 107 0 ENST00000257745.4:c.2290C>T p.Pro764Ser p.P764S ENST00000257745 NM_018682.3 764 Cct/Tct 0 -MLLT4 UCSF GRCh37 6 168352396 168352396 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 9 71 0 ENST00000447894.2:c.4341G>A p.Gln1447= p.Q1447= ENST00000447894 1447 caG/caA 0 -MLPH UCSF GRCh37 2 238419669 238419669 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 143 17 94 0 ENST00000264605.3:c.370C>T p.His124Tyr p.H124Y ENST00000264605 NM_024101.6 124 Cat/Tat 0 -MMP9 UCSF GRCh37 20 44640922 44640922 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 10 27 0 ENST00000372330.3:c.1144G>A p.Asp382Asn p.D382N ENST00000372330 NM_004994.2 382 Gac/Aac 0 -MOAP1 UCSF GRCh37 14 93650341 93650341 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 20 130 0 ENST00000298894.4:c.247C>T p.Pro83Ser p.P83S ENST00000298894 NM_022151.4 83 Ccg/Tcg 0 -MOAP1 UCSF GRCh37 14 93649577 93649577 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 29 66 0 ENST00000298894.4:c.1011G>A p.Glu337= p.E337= ENST00000298894 NM_022151.4 337 gaG/gaA 0 -MOB3A UCSF GRCh37 19 2078282 2078282 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 9 10 0 ENST00000357066.3:c.278G>A p.Gly93Glu p.G93E ENST00000357066 NM_130807.2 93 gGg/gAg 0 -MORC4 UCSF GRCh37 X 106229341 106229341 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 30 56 0 ENST00000355610.4:c.398G>A p.Gly133Glu p.G133E ENST00000355610 NM_001085354.2 133 gGa/gAa 0 -MOSPD1 UCSF GRCh37 X 134033430 134033430 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 8 44 0 ENST00000370783.3:c.34G>A p.Glu12Lys p.E12K ENST00000370783 NM_019556.1 12 Gaa/Aaa 0 -MOV10L1 UCSF GRCh37 22 50588095 50588095 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 3 15 0 ENST00000262794.5:c.2679G>A p.Glu893= p.E893= ENST00000262794 NM_018995.2 893 gaG/gaA 0 -MRPL10 UCSF GRCh37 17 45904022 45904022 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 3 37 0 ENST00000351111.2:c.513G>A p.Val171= p.V171= ENST00000351111 NM_145255.3 171 gtG/gtA 0 -MRPS17 UCSF GRCh37 7 56022783 56022783 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 77 49 76 0 ENST00000285298.4:c.305G>A p.Gly102Glu p.G102E ENST00000285298 NM_015969.2 102 gGa/gAa 0 -MRVI1 UCSF GRCh37 11 10602125 10602125 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 113 21 92 0 ENST00000423302.2:c.2372G>A p.Gly791Asp p.G791D ENST00000423302 NM_130385.3 791 gGt/gAt 0 -MSLN UCSF GRCh37 16 816698 816698 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 7 22 0 ENST00000382862.3:c.1285G>A p.Gly429Arg p.G429R ENST00000382862 NM_013404.4 429 Gga/Aga 0 -MSN UCSF GRCh37 X 64949352 64949352 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 12 40 0 ENST00000360270.5:c.245C>T p.Ala82Val p.A82V ENST00000360270 NM_002444.2 82 gCc/gTc 0 -MST1 UCSF GRCh37 3 49725201 49725201 + intron_variant Intron SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 5 15 31 0 ENST00000383728.3:c.18-100G>A *6* ENST00000383728 0 -MST1 UCSF GRCh37 3 49723144 49723144 + 3_prime_UTR_variant 3'UTR SNP C C T 1000g2010nov_all_0.040,snp132_rs9713630 P01_Rec Untested WXS Illumina HiSeq 17 7 25 1 ENST00000383728.3:c.*372G>A *124* ENST00000383728 0 -MSX1 UCSF GRCh37 4 4864447 4864447 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 27 37 0 ENST00000382723.4:c.489C>T p.Ala163= p.A163= ENST00000382723 NM_002448.3 163 gcC/gcT 0 -MTIF3 UCSF GRCh37 13 28014446 28014446 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 87 13 108 0 ENST00000381116.1:c.140C>T p.Ser47Phe p.S47F ENST00000381116 47 tCc/tTc 0 -MTMR14 UCSF GRCh37 3 9712828 9712828 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 23 54 0 ENST00000296003.4:c.651G>A p.Glu217= p.E217= ENST00000296003 NM_001077525.2 217 gaG/gaA 0 -MTNR1B UCSF GRCh37 11 92715267 92715267 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 39 72 0 ENST00000257068.2:c.878G>A p.Ser293Asn p.S293N ENST00000257068 NM_005959.3 293 aGc/aAc 0 -MTOR UCSF GRCh37 1 11184573 11184573 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 36 26 41 0 ENST00000361445.4:c.6644C>T p.Ser2215Phe p.S2215F ENST00000361445 NM_004958.3 2215 tCt/tTt 0 -MUC12 UCSF GRCh37 7 100646542 100646542 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 213 47 168 0 ENST00000379442.3:c.13127G>A p.Ser4376Asn p.S4376N ENST00000379442 4376 aGc/aAc 0 -MUC17 UCSF GRCh37 7 100676996 100676996 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 192 25 155 0 ENST00000306151.4:c.2299C>T p.Leu767Phe p.L767F ENST00000306151 NM_001040105.1 767 Ctt/Ttt 0 -MUC17 UCSF GRCh37 7 100684346 100684346 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 129 75 155 0 ENST00000306151.4:c.9649C>T p.Pro3217Ser p.P3217S ENST00000306151 NM_001040105.1 3217 Cct/Tct 0 -MUC2 UCSF GRCh37 11 1092260 1092260 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 7 52 0 ENST00000441003.2:c.4079C>T p.Ser1360Phe p.S1360F ENST00000441003 NM_002457.2 1360 tCt/tTt 0 -MUC21 UCSF GRCh37 6 30954428 30954428 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 153 17 71 0 ENST00000376296.3:c.476C>T p.Ser159Phe p.S159F ENST00000376296 NM_001010909.2 159 tCc/tTc 0 -MUC21 UCSF GRCh37 6 30954650 30954650 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 139 22 83 0 ENST00000376296.3:c.698C>T p.Thr233Ile p.T233I ENST00000376296 NM_001010909.2 233 aCc/aTc 0 -MUC4 UCSF GRCh37 3 195513478 195513478 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 206 88 326 0 ENST00000463781.3:c.4973C>T p.Ser1658Phe p.S1658F ENST00000463781 NM_018406.6 1658 tCc/tTc 0 -MYBL1 UCSF GRCh37 8 67484738 67484739 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 0 ENST00000522677.3:c.1707dup p.Tyr570IlefsTer5 p.Y570Ifs*5 ENST00000522677 NM_001080416.2 569 aaa/aaAa 0 -MYBL2 UCSF GRCh37 20 42338616 42338616 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 107 25 95 0 ENST00000217026.4:c.1519G>A p.Asp507Asn p.D507N ENST00000217026 NM_002466.3 507 Gat/Aat 0 -MYBPHL UCSF GRCh37 1 109839724 109839724 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 20 60 0 ENST00000357155.1:c.518G>A p.Gly173Glu p.G173E ENST00000357155 NM_001265613.1 173 gGg/gAg 0 -MYCBP2 UCSF GRCh37 13 77642966 77642966 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 12 65 0 ENST00000357337.6:c.11791G>A p.Val3931Met p.V3931M ENST00000357337 3931 Gtg/Atg 0 -MYH10 UCSF GRCh37 17 8416890 8416890 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 34 38 0 ENST00000269243.4:c.2618G>A p.Gly873Glu p.G873E ENST00000269243 NM_005964.3 873 gGa/gAa 0 -MYH11 UCSF GRCh37 16 15835500 15835500 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 65 38 62 0 ENST00000300036.5:c.2679G>A p.Gln893= p.Q893= ENST00000300036 NM_002474.2 893 caG/caA 0 -MYH13 UCSF GRCh37 17 10206579 10206579 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 84 46 69 0 ENST00000252172.4:c.5601G>A p.Arg1867= p.R1867= ENST00000252172 NM_003802.2 1867 agG/agA 0 -MYH13 UCSF GRCh37 17 10267644 10267644 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 15 120 0 ENST00000252172.4:c.204G>A p.Arg68= p.R68= ENST00000252172 NM_003802.2 68 cgG/cgA 0 -MYH4 UCSF GRCh37 17 10363607 10363607 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 55 46 64 0 ENST00000255381.2:c.1179G>A p.Leu393= p.L393= ENST00000255381 NM_017533.2 393 ctG/ctA 0 -MYH6 UCSF GRCh37 14 23862195 23862195 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 11 32 0 ENST00000356287.3:c.3177C>T p.Gly1059= p.G1059= ENST00000356287 1059 ggC/ggT 0 -MYH7 UCSF GRCh37 14 23884352 23884352 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 29 41 0 ENST00000355349.3:c.5411C>T p.Ala1804Val p.A1804V ENST00000355349 NM_000257.2 1804 gCc/gTc 0 -MYH8 UCSF GRCh37 17 10305018 10305018 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 115 74 146 0 ENST00000403437.2:c.2773G>A p.Val925Met p.V925M ENST00000403437 NM_002472.2 925 Gtg/Atg 0 -MYL3 UCSF GRCh37 3 46904778 46904778 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 4 46 0 ENST00000292327.4:c.103G>A p.Val35Ile p.V35I ENST00000292327 NM_000258.2 35 Gtc/Atc 0 -MYLK UCSF GRCh37 3 123419528 123419528 + synonymous_variant Silent SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 26 10 64 1 ENST00000360304.3:c.2787G>A p.Leu929= p.L929= ENST00000360304 NM_053025.3 929 ctG/ctA 0 -MYO10 UCSF GRCh37 5 16701512 16701512 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 16 24 0 ENST00000513610.1:c.2992G>A p.Glu998Lys p.E998K ENST00000513610 NM_012334.2 998 Gaa/Aaa 0 -MYO10 UCSF GRCh37 5 16701948 16701948 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 12 54 0 ENST00000513610.1:c.2557-1G>A p.X853_splice ENST00000513610 NM_012334.2 0 -MYO15A UCSF GRCh37 17 18047868 18047868 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 12 17 0 ENST00000205890.5:c.6235G>A p.Ala2079Thr p.A2079T ENST00000205890 NM_016239.3 2079 Gcc/Acc 0 -MYO16 UCSF GRCh37 13 109365014 109365014 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 8 43 0 ENST00000356711.2:c.232C>T p.Arg78Trp p.R78W ENST00000356711 NM_015011.1 78 Cgg/Tgg 0 -MYO1E UCSF GRCh37 15 59445946 59445946 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 36 39 0 ENST00000288235.4:c.2923C>T p.Pro975Ser p.P975S ENST00000288235 NM_004998.3 975 Ccc/Tcc 0 -MYO3A UCSF GRCh37 10 26305789 26305789 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 35 88 0 ENST00000265944.5:c.549C>T p.Asn183= p.N183= ENST00000265944 NM_017433.4 183 aaC/aaT 0 -MYO3B UCSF GRCh37 2 171262121 171262121 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 13 55 0 ENST00000408978.4:c.2498G>A p.Gly833Asp p.G833D ENST00000408978 NM_138995.4 833 gGc/gAc 0 -MYO3B UCSF GRCh37 2 171238526 171238526 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 94 15 97 0 ENST00000408978.4:c.972G>A p.Arg324= p.R324= ENST00000408978 NM_138995.4 324 agG/agA 0 -MYO7B UCSF GRCh37 2 128393887 128393887 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 10 14 0 ENST00000409816.2:c.6033C>T p.Phe2011= p.F2011= ENST00000409816 2011 ttC/ttT 0 -MYOCD UCSF GRCh37 17 12666467 12666467 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 41 42 77 0 ENST00000343344.4:c.2323A>G p.Thr775Ala p.T775A ENST00000343344 775 Act/Gct 0 -MYOCD UCSF GRCh37 17 12620673 12620673 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 22 58 0 ENST00000343344.4:c.188C>T p.Ser63Phe p.S63F ENST00000343344 63 tCc/tTc 0 -MYOF UCSF GRCh37 10 95111245 95111245 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 21 73 0 ENST00000359263.4:c.3747C>T p.Leu1249= p.L1249= ENST00000359263 NM_013451.3 1249 ctC/ctT 0 -MYOM1 UCSF GRCh37 18 3151764 3151764 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 60 87 0 ENST00000356443.4:c.1771G>A p.Gly591Arg p.G591R ENST00000356443 NM_019856.1 591 Gga/Aga 0 -MYOM1 UCSF GRCh37 18 3173967 3173967 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 20 76 0 ENST00000356443.4:c.1143C>T p.Phe381= p.F381= ENST00000356443 NM_019856.1 381 ttC/ttT 0 -MYPN UCSF GRCh37 10 69959267 69959267 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 17 59 0 ENST00000358913.5:c.3428C>T p.Thr1143Ile p.T1143I ENST00000358913 NM_032578.3 1143 aCc/aTc 0 -MYPN UCSF GRCh37 10 69881321 69881321 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 21 47 0 ENST00000358913.5:c.126C>T p.Cys42= p.C42= ENST00000358913 NM_032578.3 42 tgC/tgT 0 -MYRIP UCSF GRCh37 3 40208666 40208666 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 4 26 24 0 ENST00000302541.6:c.665C>T p.Ala222Val p.A222V ENST00000302541 NM_015460.2 222 gCc/gTc 0 -NAALADL1 UCSF GRCh37 11 64821987 64821987 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 9 19 0 ENST00000358658.3:c.827C>T p.Ser276Phe p.S276F ENST00000358658 NM_005468.2 276 tCc/tTc 0 -NACA UCSF GRCh37 12 57114689 57114689 + intron_variant Intron SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 36 77 0 ENST00000356769.3:c.70+3547G>A *24* ENST00000356769 NM_001113202.1 0 -NAE1 UCSF GRCh37 16 66850916 66850916 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 81 17 94 0 ENST00000290810.3:c.700C>T p.Pro234Ser p.P234S ENST00000290810 234 Cct/Tct 0 -NAIF1 UCSF GRCh37 9 130829281 130829281 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 10 38 0 ENST00000373078.4:c.100C>T p.His34Tyr p.H34Y ENST00000373078 NM_197956.3 34 Cac/Tac 0 -NALCN UCSF GRCh37 13 101721137 101721137 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 12 51 0 ENST00000251127.6:c.4240G>A p.Ala1414Thr p.A1414T ENST00000251127 NM_052867.2 1414 Gca/Aca 0 -NAV1 UCSF GRCh37 1 201682021 201682021 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 20 43 0 ENST00000367296.4:c.834C>T p.Ser278= p.S278= ENST00000367296 NM_020443.4 278 agC/agT 0 -NAV3 UCSF GRCh37 12 78401021 78401021 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 11 65 0 ENST00000397909.2:c.1703C>T p.Pro568Leu p.P568L ENST00000397909 NM_001024383.1 568 cCt/cTt 0 -NBEAL2 UCSF GRCh37 3 47043734 47043734 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 7 9 30 0 ENST00000450053.3:c.5107G>A p.Ala1703Thr p.A1703T ENST00000450053 NM_015175.2 1703 Gct/Act 0 -NBPF3 UCSF GRCh37 1 21806654 21806654 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 97 46 107 0 ENST00000318249.5:c.1319C>T p.Pro440Leu p.P440L ENST00000318249 NM_032264.4 440 cCc/cTc 0 -NBPF3 UCSF GRCh37 1 21805842 21805842 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 142 22 131 0 ENST00000318249.5:c.1157G>A p.Arg386Lys p.R386K ENST00000318249 NM_032264.4 386 aGa/aAa 0 -NCAPG UCSF GRCh37 4 17844947 17844947 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 33 101 0 ENST00000251496.2:c.2947G>A p.Glu983Lys p.E983K ENST00000251496 NM_022346.4 983 Gaa/Aaa 0 -NCKAP1L UCSF GRCh37 12 54917237 54917237 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 97 21 107 0 ENST00000293373.6:c.1938G>A p.Lys646= p.K646= ENST00000293373 NM_005337.4 646 aaG/aaA 0 -NCKAP5 UCSF GRCh37 2 133540233 133540233 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 11 31 0 ENST00000409261.1:c.4151G>A p.Gly1384Glu p.G1384E ENST00000409261 NM_207363.2 1384 gGa/gAa 0 -NCOA3 UCSF GRCh37 20 46279918 46279918 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.00197 P01_Rec Untested WXS Illumina HiSeq 35 7 48 0 ENST00000371998.3:c.3844C>T p.Pro1282Ser p.P1282S ENST00000371998 1282 Cca/Tca 0 -NCOR1 UCSF GRCh37 17 16022800 16022800 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 93 33 105 0 ENST00000268712.3:c.1853-1G>A p.X618_splice ENST00000268712 NM_006311.3 0 -NCSTN UCSF GRCh37 1 160321500 160321500 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 131 21 116 0 ENST00000294785.5:c.748C>T p.Pro250Ser p.P250S ENST00000294785 NM_015331.2 250 Ccc/Tcc 0 -NDST1 UCSF GRCh37 5 149907410 149907410 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 11 14 0 ENST00000261797.6:c.558C>T p.Pro186= p.P186= ENST00000261797 NM_001543.4 186 ccC/ccT 0 -NDST3 UCSF GRCh37 4 119059216 119059216 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 14 59 0 ENST00000296499.5:c.1232G>A p.Gly411Asp p.G411D ENST00000296499 NM_004784.2 411 gGc/gAc 0 -NDUFS1 UCSF GRCh37 2 207014633 207014633 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 26 63 0 ENST00000233190.6:c.170G>A p.Gly57Asp p.G57D ENST00000233190 NM_005006.6 57 gGc/gAc 0 -NEB UCSF GRCh37 2 152468732 152468732 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 113 20 119 0 ENST00000172853.10:c.11044C>T p.Leu3682= p.L3682= ENST00000172853 3682 Cta/Tta 0 -NECAB1 UCSF GRCh37 8 91937778 91937778 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 35 73 0 ENST00000417640.2:c.510G>A p.Lys170= p.K170= ENST00000417640 NM_022351.4 170 aaG/aaA 0 -NEDD4 UCSF GRCh37 15 56139232 56139232 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 12 79 0 ENST00000508342.1:c.2800G>A p.Ala934Thr p.A934T ENST00000508342 NM_001284338.1 934 Gca/Aca 0 -NEDD9 UCSF GRCh37 6 11191145 11191145 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 8 39 0 ENST00000379446.5:c.957C>T p.Val319= p.V319= ENST00000379446 NM_001271033.1 319 gtC/gtT 0 -NEK3 UCSF GRCh37 13 52715162 52715162 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 14 50 0 ENST00000400357.2:c.876+2889C>T *292* ENST00000400357 0 -NEK9 UCSF GRCh37 14 75558142 75558142 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 7 23 0 ENST00000238616.5:c.2273G>A p.Gly758Asp p.G758D ENST00000238616 NM_033116.4 758 gGc/gAc 0 -NELF UCSF GRCh37 9 140346820 140346820 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 104 22 47 0 ENST00000371475.3:c.1233C>T p.Cys411= p.C411= ENST00000371475 NM_001130969.1 411 tgC/tgT 0 -NET1 UCSF GRCh37 10 5494459 5494459 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 10 28 0 ENST00000355029.4:c.502C>T p.Leu168Phe p.L168F ENST00000355029 NM_001047160.2 168 Ctc/Ttc 0 -NEU1 UCSF GRCh37 6 31827515 31827515 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 88 14 64 0 ENST00000375631.4:c.1229G>A p.Ser410Asn p.S410N ENST00000375631 NM_000434.3 410 aGt/aAt 0 -NEURL2 UCSF GRCh37 20 44518890 44518890 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 9 11 0 ENST00000372518.4:c.741C>T p.Gly247= p.G247= ENST00000372518 NM_001278535.1 247 ggC/ggT 0 -NEUROG3 UCSF GRCh37 10 71332566 71332566 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 6 10 0 ENST00000242462.4:c.234C>T p.Ser78= p.S78= ENST00000242462 NM_020999.3 78 agC/agT 0 -NF1 UCSF GRCh37 17 29553505 29553505 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 34 22 47 0 ENST00000358273.4:c.2054C>T p.Thr685Ile p.T685I ENST00000358273 NM_001042492.2 685 aCc/aTc 0 -NFASC UCSF GRCh37 1 204970336 204970336 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 5 29 0 ENST00000339876.6:c.3058C>T p.Pro1020Ser p.P1020S ENST00000339876 NM_001005388.2 1020 Ccc/Tcc 0 -NFATC3 UCSF GRCh37 16 68224758 68224758 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 47 74 0 ENST00000346183.3:c.2186C>T p.Pro729Leu p.P729L ENST00000346183 NM_173165.2 729 cCt/cTt 0 -NFKBID UCSF GRCh37 19 36387847 36387847 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 11 30 0 ENST00000396901.1:c.120G>A p.Gln40= p.Q40= ENST00000396901 NM_139239.1 40 caG/caA 0 -NFKBIE UCSF GRCh37 6 44230365 44230365 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 9 22 0 ENST00000275015.5:c.817G>A p.Ala273Thr p.A273T ENST00000275015 NM_004556.2 273 Gcg/Acg 0 -NHS UCSF GRCh37 X 17744999 17744999 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 58 62 0 ENST00000380060.3:c.2710C>T p.Pro904Ser p.P904S ENST00000380060 NM_198270.2 904 Cct/Tct 0 -NHSL1 UCSF GRCh37 6 138752697 138752697 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 9 17 0 ENST00000427025.2:c.2797G>A p.Ala933Thr p.A933T ENST00000427025 NM_020464.1 933 Gct/Act 0 -NHSL1 UCSF GRCh37 6 138753049 138753049 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 18 24 0 ENST00000427025.2:c.2445G>A p.Gly815= p.G815= ENST00000427025 NM_020464.1 815 ggG/ggA 0 -NHSL1 UCSF GRCh37 6 138753691 138753691 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 107 14 88 0 ENST00000427025.2:c.1803G>A p.Gly601= p.G601= ENST00000427025 NM_020464.1 601 ggG/ggA 0 -NID1 UCSF GRCh37 1 236180524 236180524 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 10 74 0 ENST00000264187.6:c.2178C>T p.Ile726= p.I726= ENST00000264187 NM_002508.2 726 atC/atT 0 -NKTR UCSF GRCh37 3 42662979 42662979 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 7 70 0 ENST00000232978.8:c.345G>A p.Gly115= p.G115= ENST00000232978 NM_005385.3 115 ggG/ggA 0 -NLN UCSF GRCh37 5 65105515 65105515 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 29 85 0 ENST00000380985.5:c.1701G>A p.Arg567= p.R567= ENST00000380985 NM_020726.4 567 agG/agA 0 -NLRC3 UCSF GRCh37 16 3604266 3604266 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 4 16 0 ENST00000359128.5:c.2244C>T p.Ser748= p.S748= ENST00000359128 748 tcC/tcT 0 -NLRP14 UCSF GRCh37 11 7083698 7083698 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 69 44 119 0 ENST00000299481.4:c.2939C>T p.Ala980Val p.A980V ENST00000299481 NM_176822.3 980 gCt/gTt 0 -NLRP4 UCSF GRCh37 19 56382267 56382267 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 7 46 0 ENST00000301295.6:c.2429G>A p.Arg810His p.R810H ENST00000301295 NM_134444.4 810 cGc/cAc 0 -NMBR UCSF GRCh37 6 142409531 142409531 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 17 15 0 ENST00000258042.1:c.265G>A p.Asp89Asn p.D89N ENST00000258042 NM_002511.2 89 Gac/Aac 0 -NME1-NME2 UCSF GRCh37 17 49248858 49248858 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 39 59 0 ENST00000393193.2:c.697C>T p.His233Tyr p.H233Y ENST00000393193 233 Cat/Tat 0 -NME1-NME2 UCSF GRCh37 17 49248924 49248924 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 18 78 0 ENST00000514264.2:c.418G>A p.Val140Ile p.V140I ENST00000514264 NM_001018137.2 140 Gtt/Att 0 -NOB1 UCSF GRCh37 16 69783509 69783509 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 11 80 0 ENST00000268802.5:c.352C>T p.His118Tyr p.H118Y ENST00000268802 NM_014062.2 118 Cac/Tac 0 -NOL8 UCSF GRCh37 9 95077331 95077331 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 91 22 66 0 ENST00000442668.2:c.1576C>T p.Pro526Ser p.P526S ENST00000442668 NM_017948.5 526 Ccc/Tcc 0 -NOL9 UCSF GRCh37 1 6592067 6592067 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 12 80 0 ENST00000377705.5:c.1608C>T p.Pro536= p.P536= ENST00000377705 NM_024654.4 536 ccC/ccT 0 -NOMO2 UCSF GRCh37 16 18555043 18555043 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 15 141 0 ENST00000381474.3:c.631C>T p.Pro211Ser p.P211S ENST00000381474 NM_001004060.1 211 Ccc/Tcc 0 -NOS2 UCSF GRCh37 17 26107878 26107878 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 10 20 0 ENST00000313735.6:c.919C>T p.Leu307= p.L307= ENST00000313735 NM_000625.4 307 Ctg/Ttg 0 -NOTCH2 UCSF GRCh37 1 120478152 120478152 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 48 90 0 ENST00000256646.2:c.3598G>A p.Gly1200Ser p.G1200S ENST00000256646 NM_024408.3 1200 Ggc/Agc 0 -NPAS3 UCSF GRCh37 14 34269087 34269087 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 4 9 0 ENST00000356141.4:c.1574G>A p.Ser525Asn p.S525N ENST00000356141 525 aGc/aAc 0 -NPFF UCSF GRCh37 12 53900629 53900629 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 38 98 0 ENST00000267017.3:c.273C>T p.Pro91= p.P91= ENST00000267017 NM_003717.2 91 ccC/ccT 0 -NPHP1 UCSF GRCh37 2 110922642 110922642 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 75 12 84 0 ENST00000393272.3:c.715G>A p.Glu239Lys p.E239K ENST00000393272 NM_207181.2 239 Gaa/Aaa 0 -NPRL2 UCSF GRCh37 3 50386307 50386307 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 11 28 48 0 ENST00000232501.3:c.583C>T p.Gln195Ter p.Q195* ENST00000232501 NM_006545.4 195 Caa/Taa 0 -NR1H3 UCSF GRCh37 11 47282796 47282796 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 7 16 0 ENST00000441012.2:c.504C>T p.Val168= p.V168= ENST00000441012 NM_005693.3 168 gtC/gtT 0 -NRIP1 UCSF GRCh37 21 16337740 16337740 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 97 68 143 0 ENST00000318948.4:c.2774G>A p.Ser925Asn p.S925N ENST00000318948 NM_003489.3 925 aGt/aAt 0 -NRIP1 UCSF GRCh37 21 16340169 16340169 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 101 16 107 0 ENST00000318948.4:c.345G>A p.Leu115= p.L115= ENST00000318948 NM_003489.3 115 ttG/ttA 0 -NRIP2 UCSF GRCh37 12 2944109 2944109 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 6 16 0 ENST00000337508.4:c.41C>T p.Ser14Phe p.S14F ENST00000337508 NM_031474.2 14 tCc/tTc 0 -NRIP2 UCSF GRCh37 12 2937137 2937137 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 6 24 0 ENST00000337508.4:c.655C>T p.Leu219= p.L219= ENST00000337508 NM_031474.2 219 Cta/Tta 0 -NRP1 UCSF GRCh37 10 33486635 33486635 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 6 48 0 ENST00000265371.4:c.1867G>A p.Gly623Ser p.G623S ENST00000265371 623 Ggc/Agc 0 -NRXN1 UCSF GRCh37 2 50850507 50850507 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 55 141 0 ENST00000406316.2:c.1079G>A p.Gly360Glu p.G360E ENST00000406316 NM_004801.4 360 gGa/gAa 0 -NSUN6 UCSF GRCh37 10 18903531 18903531 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 8 43 0 ENST00000377304.4:c.433G>A p.Gly145Arg p.G145R ENST00000377304 NM_182543.2 145 Gga/Aga 0 -NT5C2 UCSF GRCh37 10 104849440 104849440 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 14 20 0 ENST00000343289.5:c.1675G>A p.Glu559Lys p.E559K ENST00000343289 NM_012229.4 559 Gag/Aag 0 -NTNG1 UCSF GRCh37 1 107979300 107979300 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 56 102 0 ENST00000370068.1:c.1269C>T p.Asn423= p.N423= ENST00000370068 423 aaC/aaT 0 -NUDT21 UCSF GRCh37 16 56485037 56485037 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 39 5 37 0 ENST00000300291.5:c.78G>A p.Gln26= p.Q26= ENST00000300291 NM_007006.2 26 caG/caA 0 -NUFIP1 UCSF GRCh37 13 45563287 45563287 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 14 16 0 ENST00000379161.4:c.285C>T p.Ala95= p.A95= ENST00000379161 NM_012345.2 95 gcC/gcT 0 -NUP133 UCSF GRCh37 1 229611477 229611477 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 64 9 62 0 ENST00000261396.3:c.1759G>A p.Ala587Thr p.A587T ENST00000261396 NM_018230.2 587 Gca/Aca 0 -NUP153 UCSF GRCh37 6 17632906 17632906 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 132 16 78 0 ENST00000262077.2:c.2634G>A p.Lys878= p.K878= ENST00000262077 NM_001278210.1 878 aaG/aaA 0 -NUP210 UCSF GRCh37 3 13363194 13363194 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 55 50 72 0 ENST00000254508.5:c.5057C>T p.Pro1686Leu p.P1686L ENST00000254508 NM_024923.3 1686 cCc/cTc 0 -NUP214 UCSF GRCh37 9 134074253 134074253 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 101 24 49 0 ENST00000359428.5:c.5372C>T p.Pro1791Leu p.P1791L ENST00000359428 NM_005085.3 1791 cCc/cTc 0 -NUP214 UCSF GRCh37 9 134038400 134038400 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 96 32 63 0 ENST00000359428.5:c.2563G>A p.Glu855Lys p.E855K ENST00000359428 NM_005085.3 855 Gag/Aag 0 -NUP214 UCSF GRCh37 9 134074061 134074061 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 78 9 37 0 ENST00000359428.5:c.5180G>A p.Gly1727Glu p.G1727E ENST00000359428 NM_005085.3 1727 gGg/gAg 0 -NUP98 UCSF GRCh37 11 3697537 3697537 + 3_prime_UTR_variant 3'UTR SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 4 14 25 0 ENST00000359171.4:c.*136C>T *46* ENST00000359171 0 -NUP98 UCSF GRCh37 11 3733811 3733811 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 40 68 0 ENST00000359171.4:c.2725C>T p.Pro909Ser p.P909S ENST00000359171 909 Cct/Tct 0 -NUPL1 UCSF GRCh37 13 25905536 25905536 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 28 43 0 ENST00000381736.3:c.1275G>A p.Leu425= p.L425= ENST00000381736 NM_014089.3 425 ttG/ttA 0 -NVL UCSF GRCh37 1 224468833 224468833 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 28 89 0 ENST00000281701.6:c.1954C>T p.Leu652= p.L652= ENST00000281701 NM_002533.3 652 Cta/Tta 0 -NYNRIN UCSF GRCh37 14 24878470 24878470 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 53 17 46 0 ENST00000382554.3:c.1470G>A p.Gln490= p.Q490= ENST00000382554 NM_025081.2 490 caG/caA 0 -OBSCN UCSF GRCh37 1 228451969 228451969 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 81 11 63 0 ENST00000422127.1:c.4738G>A p.Val1580Met p.V1580M ENST00000422127 NM_001098623.2 1580 Gtg/Atg 0 -OBSCN UCSF GRCh37 1 228509188 228509188 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 14 21 0 ENST00000422127.1:c.14646C>T p.Ala4882= p.A4882= ENST00000422127 NM_001098623.2 4882 gcC/gcT 0 -ODF2 UCSF GRCh37 9 131261283 131261283 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 77 29 40 0 ENST00000434106.3:c.2179G>A p.Glu727Lys p.E727K ENST00000434106 NM_153433.1 727 Gaa/Aaa 0 -OGDHL UCSF GRCh37 10 50952079 50952079 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 10 10 0 ENST00000374103.4:c.1822G>A p.Ala608Thr p.A608T ENST00000374103 NM_018245.2 608 Gcc/Acc 0 -OGFRL1 UCSF GRCh37 6 72006265 72006265 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 14 63 0 ENST00000370435.4:c.546+1G>A p.X182_splice ENST00000370435 NM_024576.3 0 -OLFML2A UCSF GRCh37 9 127563934 127563934 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 9 27 0 ENST00000373580.3:c.911C>T p.Ala304Val p.A304V ENST00000373580 NM_182487.2 304 gCg/gTg 0 -OLFML2A UCSF GRCh37 9 127570103 127570103 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 8 21 0 ENST00000373580.3:c.1212C>T p.Pro404= p.P404= ENST00000373580 NM_182487.2 404 ccC/ccT 0 -OLFML3 UCSF GRCh37 1 114523942 114523942 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 23 38 0 ENST00000320334.4:c.772C>T p.Pro258Ser p.P258S ENST00000320334 NM_020190.2 258 Cca/Tca 0 -OPCML UCSF GRCh37 11 132306126 132306126 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 60 45 60 0 ENST00000331898.7:c.791C>T p.Ala264Val p.A264V ENST00000331898 NM_002545.3 264 gCc/gTc 0 -OPCML UCSF GRCh37 11 132527148 132527148 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 18 32 0 ENST00000331898.7:c.234G>A p.Gly78= p.G78= ENST00000331898 NM_002545.3 78 ggG/ggA 0 -OR10A3 UCSF GRCh37 11 7960335 7960335 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 37 63 0 ENST00000360759.3:c.733C>T p.Leu245Phe p.L245F ENST00000360759 NM_001003745.1 245 Ctc/Ttc 0 -OR10R2 UCSF GRCh37 1 158450020 158450020 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 151 34 119 0 ENST00000368152.1:c.353C>T p.Ala118Val p.A118V ENST00000368152 NM_001004472.1 118 gCt/gTt 0 -OR10S1 UCSF GRCh37 11 123848113 123848113 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 8 17 0 ENST00000531945.1:c.286G>A p.Ala96Thr p.A96T ENST00000531945 NM_001004474.1 96 Gca/Aca 0 -OR10S1 UCSF GRCh37 11 123848289 123848289 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 8 49 0 ENST00000531945.1:c.110C>T p.Ser37Phe p.S37F ENST00000531945 NM_001004474.1 37 tCt/tTt 0 -OR14J1 UCSF GRCh37 6 29274902 29274902 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 95 34 67 0 ENST00000377160.2:c.436G>A p.Val146Met p.V146M ENST00000377160 NM_030946.1 146 Gtg/Atg 0 -OR1A2 UCSF GRCh37 17 3101003 3101003 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 81 59 100 0 ENST00000381951.1:c.191C>T p.Ala64Val p.A64V ENST00000381951 NM_012352.1 64 gCc/gTc 0 -OR1C1 UCSF GRCh37 1 247921698 247921698 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 9 51 0 ENST00000408896.2:c.11G>A p.Arg4Lys p.R4K ENST00000408896 NM_012353.2 4 aGa/aAa 0 -OR2B3 UCSF GRCh37 6 29054960 29054960 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 21 54 0 ENST00000377173.2:c.66G>A p.Trp22Ter p.W22* ENST00000377173 NM_001005226.2 22 tgG/tgA 0 -OR2G2 UCSF GRCh37 1 247752365 247752365 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 27 51 0 ENST00000320065.1:c.704C>T p.Thr235Ile p.T235I ENST00000320065 NM_001001915.1 235 aCc/aTc 0 -OR3A2 UCSF GRCh37 17 3181566 3181566 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 20 50 0 ENST00000408891.2:c.664C>T p.Leu222Phe p.L222F ENST00000408891 NM_002551.3 222 Ctc/Ttc 0 -OR51B2 UCSF GRCh37 11 5345160 5345160 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 17 103 0 ENST00000328813.2:c.368C>T p.Ala123Val p.A123V ENST00000328813 NM_033180.4 123 gCc/gTc 0 -OR52B2 UCSF GRCh37 11 6190897 6190897 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 20 27 0 ENST00000530810.1:c.660C>T p.Tyr220= p.Y220= ENST00000530810 NM_001004052.1 220 taC/taT 0 -OR52W1 UCSF GRCh37 11 6220526 6220526 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 56 12 73 0 ENST00000311352.2:c.73C>T p.Leu25= p.L25= ENST00000311352 NM_001005178.1 25 Cta/Tta 0 -OR5K4 UCSF GRCh37 3 98073030 98073030 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 72 130 0 ENST00000354924.2:c.333C>T p.Asp111= p.D111= ENST00000354924 NM_001005517.1 111 gaC/gaT 0 -OR5L2 UCSF GRCh37 11 55595315 55595315 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 35 83 0 ENST00000378397.1:c.621G>A p.Glu207= p.E207= ENST00000378397 NM_001004739.1 207 gaG/gaA 0 -OR6C3 UCSF GRCh37 12 55725859 55725859 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 81 66 129 0 ENST00000379667.1:c.375G>A p.Lys125= p.K125= ENST00000379667 NM_054104.1 125 aaG/aaA 0 -OR7C1 UCSF GRCh37 19 14910638 14910638 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P01_Rec Untested WXS Illumina HiSeq 10 0 ENST00000248073.2:c.311delT p.Phe104SerfsTer12 p.F104Sfs*12 ENST00000248073 NM_198944.1 104 tTc/tc 0 -OR8G1 UCSF GRCh37 11 124121243 124121243 + intron_variant Intron SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 100 14 95 0 ENST00000341493.2:c.776+45C>T *259* ENST00000341493 NM_001002905.1 0 -OSBPL6 UCSF GRCh37 2 179170939 179170939 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 62 53 71 1 ENST00000190611.4:c.28C>T p.Pro10Ser p.P10S ENST00000190611 NM_032523.3 10 Cct/Tct 0 -OSCAR UCSF GRCh37 19 54600250 54600250 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 3 24 0 ENST00000359649.4:c.284C>T p.Thr95Ile p.T95I ENST00000359649 NM_206818.1 95 aCt/aTt 0 -OSGEPL1 UCSF GRCh37 2 190618771 190618771 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 122 19 106 0 ENST00000264151.5:c.834C>T p.Ile278= p.I278= ENST00000264151 NM_022353.2 278 atC/atT 0 -OTOA UCSF GRCh37 16 21742223 21742223 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 9 50 0 ENST00000286149.4:c.2315G>A p.Gly772Glu p.G772E ENST00000286149 772 gGa/gAa 0 -OTUD4 UCSF GRCh37 4 146076591 146076591 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 6 32 129 0 ENST00000447906.2:c.845T>C p.Leu282Ser p.L282S ENST00000447906 282 tTa/tCa 0 -OVOL2 UCSF GRCh37 20 18005411 18005411 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 10 38 0 ENST00000278780.6:c.697G>A p.Val233Met p.V233M ENST00000278780 NM_021220.2 233 Gtg/Atg 0 -OXCT2 UCSF GRCh37 1 40236219 40236219 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 18 56 0 ENST00000327582.5:c.709G>A p.Ala237Thr p.A237T ENST00000327582 NM_022120.1 237 Gct/Act 0 -OXNAD1 UCSF GRCh37 3 16343361 16343361 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 86 29 66 0 ENST00000285083.5:c.661G>A p.Glu221Lys p.E221K ENST00000285083 NM_138381.3 221 Gaa/Aaa 0 -P2RY14 UCSF GRCh37 3 150931103 150931103 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 55 155 0 ENST00000309170.3:c.1002C>T p.Ser334= p.S334= ENST00000309170 NM_014879.3 334 agC/agT 0 -P2RY4 UCSF GRCh37 X 69478678 69478678 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 6 15 0 ENST00000374519.2:c.797C>T p.Thr266Ile p.T266I ENST00000374519 NM_002565.3 266 aCc/aTc 0 -PABPC1 UCSF GRCh37 8 101717192 101717192 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 17 95 0 ENST00000318607.5:c.1780C>T p.Leu594Phe p.L594F ENST00000318607 NM_002568.3 594 Ctt/Ttt 0 -PABPC3 UCSF GRCh37 13 25672036 25672036 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 61 100 0 ENST00000281589.3:c.1700C>T p.Ala567Val p.A567V ENST00000281589 NM_030979.2 567 gCc/gTc 0 -PACSIN1 UCSF GRCh37 6 34496435 34496435 + missense_variant Missense_Mutation SNP C C G NOVEL P01_Rec Untested WXS Illumina HiSeq 62 14 42 2 ENST00000244458.2:c.237C>G p.Ser79Arg p.S79R ENST00000244458 79 agC/agG 0 -PACSIN2 UCSF GRCh37 22 43289512 43289512 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 10 19 0 ENST00000263246.3:c.168G>A p.Ala56= p.A56= ENST00000263246 NM_001184970.1 56 gcG/gcA 0 -PADI3 UCSF GRCh37 1 17592190 17592190 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 24 35 0 ENST00000375460.3:c.383G>A p.Arg128Lys p.R128K ENST00000375460 NM_016233.2 128 aGg/aAg 0 -PADI4 UCSF GRCh37 1 17674544 17674544 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 18 4 17 0 ENST00000375448.4:c.1155+1G>A p.X385_splice ENST00000375448 NM_012387.2 0 -PADI6 UCSF GRCh37 1 17707598 17707598 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 7 18 0 ENST00000434762.2:n.542C>T *181* ENST00000434762 0 -PAIP1 UCSF GRCh37 5 43529973 43529973 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 26 109 0 ENST00000306846.3:c.1261G>A p.Glu421Lys p.E421K ENST00000306846 NM_006451.4 421 Gag/Aag 0 -PAN2 UCSF GRCh37 12 56726781 56726781 + missense_variant Missense_Mutation SNP A A T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 15 65 0 ENST00000425394.2:c.98T>A p.Leu33Gln p.L33Q ENST00000425394 NM_001127460.2 33 cTg/cAg 0 -PANK4 UCSF GRCh37 1 2452596 2452596 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 17 55 0 ENST00000378466.3:c.366G>A p.Ala122= p.A122= ENST00000378466 NM_018216.1 122 gcG/gcA 0 -PAPD7 UCSF GRCh37 5 6750520 6750520 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 8 36 0 ENST00000230859.6:c.1014C>T p.Pro338= p.P338= ENST00000230859 NM_001171805.1 338 ccC/ccT 0 -PAPOLA UCSF GRCh37 14 96986446 96986446 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 74 13 75 0 ENST00000216277.8:c.63C>T p.Gly21= p.G21= ENST00000216277 NM_032632.4 21 ggC/ggT 0 -PAPPA UCSF GRCh37 9 118950399 118950399 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 9 27 0 ENST00000328252.3:c.1382G>A p.Cys461Tyr p.C461Y ENST00000328252 NM_002581.3 461 tGc/tAc 0 -PAQR3 UCSF GRCh37 4 79856412 79856412 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 37 80 0 ENST00000511594.1:c.211G>A p.Val71Ile p.V71I ENST00000511594 71 Gta/Ata 0 -PARD3B UCSF GRCh37 2 206037097 206037097 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 14 37 0 ENST00000406610.2:c.1783C>T p.Pro595Ser p.P595S ENST00000406610 NM_205863.3 595 Cca/Tca 0 -PARM1 UCSF GRCh37 4 75938106 75938106 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 97 49 110 0 ENST00000307428.7:c.515C>T p.Ser172Phe p.S172F ENST00000307428 NM_015393.3 172 tCc/tTc 0 -PARS2 UCSF GRCh37 1 55223436 55223436 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 22 35 0 ENST00000371279.3:c.1399G>A p.Asp467Asn p.D467N ENST00000371279 NM_152268.3 467 Gat/Aat 0 -PBRM1 UCSF GRCh37 3 52588816 52588816 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 4 11 15 0 ENST00000296302.7:c.4533G>A p.Gln1511= p.Q1511= ENST00000296302 1511 caG/caA 0 -PCDH12 UCSF GRCh37 5 141334941 141334941 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 4 16 0 ENST00000231484.3:c.2476C>T p.Leu826= p.L826= ENST00000231484 NM_016580.3 826 Ctg/Ttg 0 -PCDH15 UCSF GRCh37 10 55581869 55581869 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 135 18 140 0 ENST00000320301.6:c.5617A>G p.Thr1873Ala p.T1873A ENST00000320301 NM_033056.3 1873 Aca/Gca 0 -PCDH15 UCSF GRCh37 10 55591215 55591215 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 47 85 0 ENST00000320301.6:c.4062C>T p.Ile1354= p.I1354= ENST00000320301 NM_033056.3 1354 atC/atT 0 -PCDH9 UCSF GRCh37 13 66879031 66879031 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 9 66 0 ENST00000377865.2:c.3470C>T p.Pro1157Leu p.P1157L ENST00000377865 1157 cCt/cTt 0 -PCDHA1 UCSF GRCh37 5 140167217 140167217 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 26 37 0 ENST00000504120.2:c.1342G>A p.Val448Met p.V448M ENST00000504120 NM_018900.2 448 Gtg/Atg 0 -PCDHA2 UCSF GRCh37 5 140176090 140176090 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 8 15 0 ENST00000526136.1:c.1541G>A p.Ser514Asn p.S514N ENST00000526136 NM_018905.2 514 aGc/aAc 0 -PCDHA3 UCSF GRCh37 5 140182041 140182041 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 33 76 0 ENST00000522353.2:c.1259C>T p.Ala420Val p.A420V ENST00000522353 NM_018906.2 420 gCc/gTc 0 -PCDHB12 UCSF GRCh37 5 140590444 140590444 + synonymous_variant Silent SNP C C G NOVEL P01_Rec Untested WXS Illumina HiSeq 19 4 17 1 ENST00000239450.2:c.1965C>G p.Thr655= p.T655= ENST00000239450 NM_018932.3 655 acC/acG 0 -PCDHB16 UCSF GRCh37 5 140564227 140564227 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 8 30 0 ENST00000361016.2:c.2093C>T p.Ser698Leu p.S698L ENST00000361016 NM_020957.1 698 tCg/tTg 0 -PCDHB3 UCSF GRCh37 5 140481391 140481391 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 28 64 0 ENST00000231130.2:c.1158G>A p.Glu386= p.E386= ENST00000231130 NM_018937.2 386 gaG/gaA 0 -PCDHB8 UCSF GRCh37 5 140559730 140559730 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 15 38 0 ENST00000239444.2:c.2115G>A p.Ser705= p.S705= ENST00000239444 NM_019120.3 705 tcG/tcA 0 -PCDHGA1 UCSF GRCh37 5 140710722 140710722 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 51 104 0 ENST00000517417.1:c.471G>A p.Gly157= p.G157= ENST00000517417 NM_018912.2 157 ggG/ggA 0 -PCDHGB1 UCSF GRCh37 5 140729899 140729899 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 8 25 0 ENST00000523390.1:c.72C>T p.Cys24= p.C24= ENST00000523390 NM_018922.2 24 tgC/tgT 0 -PCDHGB7 UCSF GRCh37 5 140798736 140798736 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 11 75 0 ENST00000398594.2:c.1310C>T p.Thr437Ile p.T437I ENST00000398594 NM_018927.3 437 aCc/aTc 0 -PCDHGC4 UCSF GRCh37 5 140866462 140866462 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 23 40 0 ENST00000306593.1:c.1722C>T p.Ser574= p.S574= ENST00000306593 NM_018928.2 574 tcC/tcT 0 -PCDHGC5 UCSF GRCh37 5 140868812 140868812 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 10 21 0 ENST00000252087.1:c.5G>A p.Gly2Glu p.G2E ENST00000252087 NM_018929.2 2 gGg/gAg 0 -PCK2 UCSF GRCh37 14 24568906 24568906 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 14 29 0 ENST00000216780.4:c.992C>T p.Ala331Val p.A331V ENST00000216780 NM_004563.2 331 gCt/gTt 0 -PCLO UCSF GRCh37 7 82579900 82579900 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 99 23 81 0 ENST00000333891.9:c.10004C>T p.Ala3335Val p.A3335V ENST00000333891 NM_033026.5 3335 gCa/gTa 0 -PCNT UCSF GRCh37 21 47766078 47766078 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 10 24 0 ENST00000359568.5:c.676C>T p.Leu226= p.L226= ENST00000359568 NM_006031.5 226 Ctg/Ttg 0 -PDCD11 UCSF GRCh37 10 105202186 105202186 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 23 38 0 ENST00000369797.3:c.4924G>A p.Ala1642Thr p.A1642T ENST00000369797 NM_014976.1 1642 Gct/Act 0 -PDCD6IP UCSF GRCh37 3 33877759 33877759 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 39 95 0 ENST00000307296.3:c.1057+1G>A p.X353_splice ENST00000307296 0 -PDE4A UCSF GRCh37 19 10577842 10577842 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 18 37 0 ENST00000380702.2:c.2140G>A p.Ala714Thr p.A714T ENST00000380702 714 Gcg/Acg 0 -PDE5A UCSF GRCh37 4 120463649 120463649 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 23 53 0 ENST00000354960.3:c.1537G>A p.Glu513Lys p.E513K ENST00000354960 NM_001083.3 513 Gag/Aag 0 -PDE8A UCSF GRCh37 15 85634350 85634350 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 24 43 0 ENST00000310298.4:c.790C>T p.Pro264Ser p.P264S ENST00000310298 264 Cct/Tct 0 -PDGFRL UCSF GRCh37 8 17491717 17491717 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 74 16 71 0 ENST00000251630.6:c.934C>T p.Gln312Ter p.Q312* ENST00000251630 312 Cag/Tag 0 -PDIA4 UCSF GRCh37 7 148703056 148703056 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 4 20 0 ENST00000286091.4:c.1221G>A p.Lys407= p.K407= ENST00000286091 NM_004911.4 407 aaG/aaA 0 -PDPK1 UCSF GRCh37 16 2607947 2607947 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 16 75 0 ENST00000342085.4:c.268G>A p.Glu90Lys p.E90K ENST00000342085 NM_002613.4 90 Gaa/Aaa 0 -PDPR UCSF GRCh37 16 70165289 70165289 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 88 34 161 0 ENST00000288050.4:c.814C>T p.Pro272Ser p.P272S ENST00000288050 NM_017990.3 272 Ccc/Tcc 0 -PDS5B UCSF GRCh37 13 33275510 33275510 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 86 44 123 0 ENST00000315596.10:c.1791C>T p.Phe597= p.F597= ENST00000315596 NM_015032.3 597 ttC/ttT 0 -PEG3 UCSF GRCh37 19 57326617 57326617 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 4 64 0 ENST00000326441.9:c.3193G>A p.Gly1065Ser p.G1065S ENST00000326441 NM_006210.2 1065 Ggc/Agc 0 -PELI2 UCSF GRCh37 14 56763632 56763632 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 22 65 0 ENST00000267460.4:c.1011G>A p.Met337Ile p.M337I ENST00000267460 NM_021255.2 337 atG/atA 0 -PER2 UCSF GRCh37 2 239161738 239161738 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 6 20 0 ENST00000254657.3:c.2926G>A p.Ala976Thr p.A976T ENST00000254657 NM_022817.2 976 Gcc/Acc 0 -PFAS UCSF GRCh37 17 8166462 8166462 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 11 54 0 ENST00000314666.6:c.1446G>A p.Gly482= p.G482= ENST00000314666 NM_012393.2 482 ggG/ggA 0 -PFAS UCSF GRCh37 17 8167880 8167880 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 3 14 0 ENST00000314666.6:c.2010G>A p.Arg670= p.R670= ENST00000314666 NM_012393.2 670 agG/agA 0 -PFKFB2 UCSF GRCh37 1 207252331 207252331 + downstream_gene_variant 3'Flank SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 6 27 0 ENST00000367080 NM_006212.2 0 -PGBD3 UCSF GRCh37 10 50723790 50723790 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 173 20 160 0 ENST00000374127.3:c.1371C>T p.Asn457= p.N457= ENST00000374127 NM_170753.3 457 aaC/aaT 0 -PGM1 UCSF GRCh37 1 64117389 64117389 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 8 35 0 ENST00000371084.3:c.1330G>A p.Asp444Asn p.D444N ENST00000371084 NM_002633.2 444 Gac/Aac 0 -PGR UCSF GRCh37 11 100999666 100999666 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 11 16 0 ENST00000325455.5:c.136C>T p.Pro46Ser p.P46S ENST00000325455 NM_001202474.3 46 Cct/Tct 0 -PHC2 UCSF GRCh37 1 33820166 33820166 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 7 16 0 ENST00000257118.5:c.1391C>T p.Pro464Leu p.P464L ENST00000257118 NM_198040.2 464 cCc/cTc 0 -PHF17 UCSF GRCh37 4 129778576 129778576 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 87 58 115 0 ENST00000226319.6:c.948C>T p.Ser316= p.S316= ENST00000226319 NM_199320.2 316 agC/agT 0 -PHF2 UCSF GRCh37 9 96425291 96425291 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 64 9 42 0 ENST00000359246.4:c.1801G>A p.Ala601Thr p.A601T ENST00000359246 NM_005392.3 601 Gcc/Acc 0 -PHF2 UCSF GRCh37 9 96439887 96439887 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 137 41 105 0 ENST00000359246.4:c.3220G>A p.Gly1074Ser p.G1074S ENST00000359246 NM_005392.3 1074 Ggc/Agc 0 -PHF2 UCSF GRCh37 9 96437996 96437996 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 7 22 0 ENST00000359246.4:c.2757G>A p.Arg919= p.R919= ENST00000359246 NM_005392.3 919 agG/agA 0 -PHF21A UCSF GRCh37 11 45991440 45991440 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 11 17 0 ENST00000418153.2:c.625C>T p.Pro209Ser p.P209S ENST00000418153 209 Cct/Tct 0 -PI4KA UCSF GRCh37 22 21107225 21107225 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 81 50 93 0 ENST00000255882.6:c.2953G>A p.Val985Met p.V985M ENST00000255882 NM_058004.3 985 Gtg/Atg 0 -PI4KA UCSF GRCh37 22 21104219 21104219 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 18 3 18 0 ENST00000255882.6:c.3217C>T p.Pro1073Ser p.P1073S ENST00000255882 NM_058004.3 1073 Cct/Tct 0 -PIAS1 UCSF GRCh37 15 68438994 68438994 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 40 121 0 ENST00000249636.6:c.784G>A p.Val262Ile p.V262I ENST00000249636 NM_016166.1 262 Gta/Ata 0 -PIBF1 UCSF GRCh37 13 73357725 73357725 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 106 16 100 0 ENST00000326291.6:c.118C>T p.Arg40Ter p.R40* ENST00000326291 NM_006346.2 40 Cga/Tga 0 -PIGM UCSF GRCh37 1 160000672 160000672 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 92 16 109 0 ENST00000368090.2:c.858G>A p.Trp286Ter p.W286* ENST00000368090 NM_145167.2 286 tgG/tgA 0 -PIGX UCSF GRCh37 3 196454922 196454922 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 23 136 0 ENST00000392391.3:c.447C>T p.His149= p.H149= ENST00000392391 149 caC/caT 0 -PILRA UCSF GRCh37 7 99997491 99997491 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 12 47 0 ENST00000198536.2:c.873C>T p.Ser291= p.S291= ENST00000198536 NM_013439.2 291 agC/agT 0 -PITPNM3 UCSF GRCh37 17 6387053 6387053 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 18 8 13 0 ENST00000262483.8:c.371C>T p.Ser124Phe p.S124F ENST00000262483 NM_031220.3 124 tCc/tTc 0 -PITPNM3 UCSF GRCh37 17 6381403 6381403 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 12 24 0 ENST00000262483.8:c.792G>A p.Gly264= p.G264= ENST00000262483 NM_031220.3 264 ggG/ggA 0 -PIWIL4 UCSF GRCh37 11 94340784 94340784 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 9 44 0 ENST00000299001.6:c.1818G>A p.Glu606= p.E606= ENST00000299001 NM_152431.2 606 gaG/gaA 0 -PKHD1L1 UCSF GRCh37 8 110457088 110457088 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 119 84 146 0 ENST00000378402.5:c.4990G>A p.Val1664Met p.V1664M ENST00000378402 NM_177531.4 1664 Gtg/Atg 0 -PKHD1L1 UCSF GRCh37 8 110447525 110447525 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 133 33 146 0 ENST00000378402.5:c.3447C>T p.Phe1149= p.F1149= ENST00000378402 NM_177531.4 1149 ttC/ttT 0 -PKP3 UCSF GRCh37 11 397590 397590 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 7 23 0 ENST00000331563.2:c.996C>T p.Asp332= p.D332= ENST00000331563 NM_007183.2 332 gaC/gaT 0 -PLA2G2A UCSF GRCh37 1 20304605 20304605 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 15 34 0 ENST00000375111.3:c.195C>T p.Val65= p.V65= ENST00000375111 NM_001161727.1 65 gtC/gtT 0 -PLA2G5 UCSF GRCh37 1 20417094 20417094 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 7 45 0 ENST00000375108.3:c.326C>T p.Ala109Val p.A109V ENST00000375108 NM_000929.2 109 gCc/gTc 0 -PLAC1 UCSF GRCh37 X 133700690 133700690 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 21 49 0 ENST00000359237.4:c.23G>A p.Gly8Glu p.G8E ENST00000359237 NM_021796.3 8 gGa/gAa 0 -PLAC8 UCSF GRCh37 4 84026056 84026056 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 27 83 0 ENST00000311507.4:c.236G>A p.Gly79Asp p.G79D ENST00000311507 NM_016619.2 79 gGc/gAc 0 -PLB1 UCSF GRCh37 2 28847925 28847925 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 23 45 0 ENST00000327757.5:c.3529G>A p.Asp1177Asn p.D1177N ENST00000327757 NM_153021.4 1177 Gac/Aac 0 -PLCB1 UCSF GRCh37 20 8626764 8626764 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 14 61 0 ENST00000338037.6:c.400G>A p.Val134Ile p.V134I ENST00000338037 NM_015192.3 134 Gtt/Att 0 -PLCD1 UCSF GRCh37 3 38049598 38049598 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 4 38 0 ENST00000334661.4:c.2092G>A p.Ala698Thr p.A698T ENST00000334661 NM_006225.3 698 Gcc/Acc 0 -PLCD4 UCSF GRCh37 2 219492808 219492808 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 24 44 0 ENST00000417849.1:c.829G>A p.Asp277Asn p.D277N ENST00000417849 277 Gat/Aat 0 -PLCE1 UCSF GRCh37 10 95892040 95892040 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 45 82 0 ENST00000260766.3:c.1316G>A p.Gly439Asp p.G439D ENST00000260766 NM_016341.3 439 gGt/gAt 0 -PLCL2 UCSF GRCh37 3 17051554 17051554 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 73 10 159 0 ENST00000418129.2:c.338C>T p.Ala113Val p.A113V ENST00000418129 NM_001144382.1 113 gCa/gTa 0 -PLD5 UCSF GRCh37 1 242253290 242253290 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 121 25 125 0 ENST00000442594.2:c.1201G>A p.Asp401Asn p.D401N ENST00000442594 NM_152666.2 401 Gac/Aac 0 -PLDN UCSF GRCh37 15 45898679 45898679 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 85 13 105 0 ENST00000220531.3:c.486G>A p.Lys162= p.K162= ENST00000220531 NM_012388.2 162 aaG/aaA 0 -PLEKHG5 UCSF GRCh37 1 6535115 6535115 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 79 17 51 0 ENST00000400915.3:c.462G>A p.Lys154= p.K154= ENST00000400915 NM_001042663.1 154 aaG/aaA 0 -PLIN4 UCSF GRCh37 19 4511488 4511488 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 89 61 116 0 ENST00000301286.3:c.2442C>T p.Thr814= p.T814= ENST00000301286 NM_001080400.1 814 acC/acT 0 -PLK1 UCSF GRCh37 16 23700000 23700000 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 9 32 0 ENST00000300093.4:c.1204G>A p.Asp402Asn p.D402N ENST00000300093 NM_005030.3 402 Gat/Aat 0 -PLK3 UCSF GRCh37 1 45270013 45270013 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 23 17 0 ENST00000372201.4:c.1345G>A p.Glu449Lys p.E449K ENST00000372201 NM_004073.2 449 Gaa/Aaa 0 -PLS3 UCSF GRCh37 X 114883769 114883769 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 10 29 1 ENST00000355899.3:c.1781G>A p.Arg594Lys p.R594K ENST00000355899 NM_005032.5 594 aGa/aAa 0 -PLXNA2 UCSF GRCh37 1 208218077 208218077 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 7 17 0 ENST00000367033.3:c.3650G>A p.Gly1217Asp p.G1217D ENST00000367033 NM_025179.3 1217 gGc/gAc 0 -PLXNA4 UCSF GRCh37 7 131883310 131883310 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 14 21 0 ENST00000321063.4:c.2672C>T p.Ala891Val p.A891V ENST00000321063 NM_020911.1 891 gCc/gTc 0 -PLXNA4 UCSF GRCh37 7 131888097 131888097 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 9 28 0 ENST00000321063.4:c.2380C>T p.Pro794Ser p.P794S ENST00000321063 NM_020911.1 794 Cca/Tca 0 -PLXNB3 UCSF GRCh37 X 153036320 153036320 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 3 12 0 ENST00000361971.5:c.2118G>A p.Arg706= p.R706= ENST00000361971 NM_005393.2 706 cgG/cgA 0 -PLXNC1 UCSF GRCh37 12 94697645 94697645 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 16 105 0 ENST00000258526.4:c.4500G>A p.Met1500Ile p.M1500I ENST00000258526 NM_005761.2 1500 atG/atA 0 -PNKD UCSF GRCh37 2 219209653 219209653 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 8 45 0 ENST00000273077.4:c.1107C>T p.Ala369= p.A369= ENST00000273077 NM_015488.4 369 gcC/gcT 0 -PNLDC1 UCSF GRCh37 6 160224997 160224997 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 83 21 102 0 ENST00000610273.1:c.216G>A p.Lys72= p.K72= ENST00000610273 NM_173516.2 72 aaG/aaA 0 -PNMA3 UCSF GRCh37 X 152225506 152225506 + missense_variant,NMD_transcript_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0025 P01_Rec Untested WXS Illumina HiSeq 7 24 24 0 ENST00000424805.1:c.94G>A p.Glu32Lys p.E32K ENST00000424805 32 Gag/Aag 0 -PNMA5 UCSF GRCh37 X 152159173 152159173 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 4 28 0 ENST00000361887.5:c.970C>T p.Leu324Phe p.L324F ENST00000361887 NM_052926.2 324 Ctc/Ttc 0 -POLE UCSF GRCh37 12 133253196 133253196 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 8 35 0 ENST00000320574.5:c.845C>T p.Pro282Leu p.P282L ENST00000320574 NM_006231.2 282 cCc/cTc 0 -POLE2 UCSF GRCh37 14 50130071 50130071 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 16 53 0 ENST00000216367.5:c.717C>T p.Ala239= p.A239= ENST00000216367 NM_002692.3 239 gcC/gcT 0 -POLR1A UCSF GRCh37 2 86258542 86258542 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 11 33 0 ENST00000263857.6:c.4489G>A p.Ala1497Thr p.A1497T ENST00000263857 1497 Gcc/Acc 0 -POLR1B UCSF GRCh37 2 113300155 113300155 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 13 22 0 ENST00000263331.5:c.84G>A p.Arg28= p.R28= ENST00000263331 NM_019014.4 28 cgG/cgA 0 -POLR2A UCSF GRCh37 17 7400674 7400674 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 4 24 0 ENST00000322644.6:c.820-1G>A p.X274_splice ENST00000322644 NM_000937.4 0 -POLR2E UCSF GRCh37 19 1093980 1093980 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 8 18 0 ENST00000586746.1:c.155G>A p.Arg52Gln p.R52Q ENST00000586746 NM_002695.3 52 cGg/cAg 0 -POMT2 UCSF GRCh37 14 77755164 77755164 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 22 57 0 ENST00000261534.4:c.1194C>T p.Asp398= p.D398= ENST00000261534 NM_013382.5 398 gaC/gaT 0 -POTEE UCSF GRCh37 2 132010673 132010673 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 119 25 224 0 ENST00000356920.5:c.1778+1G>A p.X593_splice ENST00000356920 NM_001083538.1 0 -POTEF UCSF GRCh37 2 130832864 130832864 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 24 88 0 ENST00000357462.5:c.2181C>T p.Pro727= p.P727= ENST00000357462 727 ccC/ccT 0 -PPFIA2 UCSF GRCh37 12 81734921 81734921 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 9 26 80 0 ENST00000549396.1:c.2329C>T p.Pro777Ser p.P777S ENST00000549396 NM_003625.3 777 Cct/Tct 0 -PPFIBP1 UCSF GRCh37 12 27844782 27844782 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 121 22 122 0 ENST00000318304.8:c.2804G>A p.Gly935Glu p.G935E ENST00000318304 NM_177444.2 935 gGa/gAa 0 -PPHLN1 UCSF GRCh37 12 42745695 42745695 + stop_gained Nonsense_Mutation SNP C C A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 9 38 0 ENST00000395568.2:c.81C>A p.Tyr27Ter p.Y27* ENST00000395568 NM_016488.6 27 taC/taA 0 -PPIL1 UCSF GRCh37 6 36839493 36839493 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 169 43 130 0 ENST00000373699.5:c.211+1G>A p.X71_splice ENST00000373699 NM_016059.4 0 -PPIP5K2 UCSF GRCh37 5 102526558 102526558 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 36 128 0 ENST00000358359.3:c.3368C>T p.Ser1123Phe p.S1123F ENST00000358359 NM_001281471.1 1123 tCc/tTc 0 -PPIP5K2 UCSF GRCh37 5 102526637 102526637 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 89 51 151 0 ENST00000358359.3:c.3447C>T p.Ser1149= p.S1149= ENST00000358359 NM_001281471.1 1149 tcC/tcT 0 -PPL UCSF GRCh37 16 4934721 4934721 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 105 67 135 0 ENST00000345988.2:c.3935G>A p.Arg1312Lys p.R1312K ENST00000345988 NM_002705.4 1312 aGg/aAg 0 -PPM1G UCSF GRCh37 2 27606392 27606392 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 12 43 0 ENST00000344034.4:c.1042G>A p.Asp348Asn p.D348N ENST00000344034 NM_177983.2 348 Gac/Aac 0 -PPM1H UCSF GRCh37 12 63114037 63114037 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 42 112 0 ENST00000228705.6:c.987G>A p.Glu329= p.E329= ENST00000228705 NM_020700.1 329 gaG/gaA 0 -PPP2R1B UCSF GRCh37 11 111608252 111608252 + downstream_gene_variant 3'Flank SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 6 25 0 ENST00000527614 NM_001177562.1 0 -PPP6R2 UCSF GRCh37 22 50876724 50876724 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 12 15 0 ENST00000216061.5:c.1961C>T p.Pro654Leu p.P654L ENST00000216061 654 cCc/cTc 0 -PPRC1 UCSF GRCh37 10 103899228 103899228 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 22 34 0 ENST00000278070.2:c.963C>T p.Thr321= p.T321= ENST00000278070 NM_015062.3 321 acC/acT 0 -PRB1 UCSF GRCh37 12 11506577 11506577 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 10 42 0 ENST00000500254.2:c.313+147C>T *105* ENST00000500254 NM_199353.2 0 -PRB4 UCSF GRCh37 12 11461462 11461462 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 172 22 157 0 ENST00000279575.1:c.455C>T p.Ser152Phe p.S152F ENST00000279575 NM_001261399.1 152 tCc/tTc 0 -PRCC UCSF GRCh37 1 156770198 156770198 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 22 50 0 ENST00000271526.4:c.1422C>T p.Thr474= p.T474= ENST00000271526 NM_005973.4 474 acC/acT 0 -PRDM10 UCSF GRCh37 11 129785651 129785651 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 6 46 0 ENST00000358825.5:c.2442G>A p.Glu814= p.E814= ENST00000358825 NM_020228.2 814 gaG/gaA 0 -PRDM15 UCSF GRCh37 21 43258144 43258144 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 36 47 0 ENST00000269844.3:c.1998C>T p.Val666= p.V666= ENST00000269844 NM_022115.3 666 gtC/gtT 0 -PRDM2 UCSF GRCh37 1 14106686 14106686 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 30 44 0 ENST00000235372.7:c.2396G>A p.Cys799Tyr p.C799Y ENST00000235372 NM_012231.4 799 tGc/tAc 0 -PRDM5 UCSF GRCh37 4 121742370 121742370 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 132 24 141 0 ENST00000264808.3:c.431G>A p.Gly144Glu p.G144E ENST00000264808 NM_018699.2 144 gGg/gAg 0 -PRDM6 UCSF GRCh37 5 122515955 122515955 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.003,1000g2011may_all_0.00696 P01_Rec Untested WXS Illumina HiSeq 44 5 39 0 ENST00000407847.4:c.1611C>T p.Ala537= p.A537= ENST00000407847 NM_001136239.1 537 gcC/gcT 0 -PRDM8 UCSF GRCh37 4 81122444 81122444 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 27 35 0 ENST00000339711.4:c.220G>A p.Val74Ile p.V74I ENST00000339711 NM_020226.3 74 Gta/Ata 0 -PREX2 UCSF GRCh37 8 68939559 68939559 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 11 92 1 ENST00000288368.4:c.543+1G>A p.X181_splice ENST00000288368 NM_024870.2 0 -PRICKLE2 UCSF GRCh37 3 64184506 64184506 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 12 69 0 ENST00000295902.6:c.98C>T p.Ala33Val p.A33V ENST00000295902 NM_198859.3 33 gCt/gTt 0 -PRKAB1 UCSF GRCh37 12 120114413 120114413 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 28 51 0 ENST00000229328.5:c.604G>A p.Ala202Thr p.A202T ENST00000229328 NM_006253.4 202 Gca/Aca 0 -PRKCD UCSF GRCh37 3 53222751 53222751 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 13 54 0 ENST00000330452.3:c.1431C>T p.Asp477= p.D477= ENST00000330452 NM_006254.3 477 gaC/gaT 0 -PRND UCSF GRCh37 20 4705476 4705476 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 8 20 0 ENST00000305817.2:c.279C>T p.Gly93= p.G93= ENST00000305817 NM_012409.2 93 ggC/ggT 0 -PROC UCSF GRCh37 2 128186326 128186326 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 9 29 0 ENST00000234071.3:c.1190C>T p.Ala397Val p.A397V ENST00000234071 NM_000312.3 397 gCc/gTc 0 -PROL1 UCSF GRCh37 4 71275779 71275779 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 56 7 62 0 ENST00000399575.2:c.734C>T p.Ala245Val p.A245V ENST00000399575 NM_021225.4 245 gCc/gTc 0 -PROP1 UCSF GRCh37 5 177421246 177421246 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 10 32 0 ENST00000308304.2:c.203C>T p.Ser68Phe p.S68F ENST00000308304 NM_006261.4 68 tCc/tTc 0 -PROX1 UCSF GRCh37 1 214170923 214170923 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 26 74 0 ENST00000261454.4:c.1045G>A p.Ala349Thr p.A349T ENST00000261454 349 Gct/Act 0 -PRPF38B UCSF GRCh37 1 109242410 109242410 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 91 34 111 0 ENST00000370025.4:c.1409G>A p.Arg470Gln p.R470Q ENST00000370025 NM_018061.2 470 cGa/cAa 0 -PRR14L UCSF GRCh37 22 32112452 32112452 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 133 26 154 0 ENST00000327423.6:c.1373C>T p.Ser458Phe p.S458F ENST00000327423 NM_173566.2 458 tCt/tTt 0 -PRR5L UCSF GRCh37 11 36422804 36422804 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 7 13 0 ENST00000378867.3:c.133C>T p.Leu45= p.L45= ENST00000378867 NM_024841.4 45 Ctg/Ttg 0 -PRRC2B UCSF GRCh37 9 134351008 134351008 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 9 27 0 ENST00000357304.4:c.3492G>A p.Arg1164= p.R1164= ENST00000357304 NM_013318.3 1164 agG/agA 0 -PRUNE2 UCSF GRCh37 9 79465386 79465386 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 8 62 0 ENST00000376718.3:c.337C>T p.Leu113= p.L113= ENST00000376718 NM_015225.2 113 Ctg/Ttg 0 -PSG6 UCSF GRCh37 19 43414818 43414818 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 139 79 157 0 ENST00000292125.2:c.620C>T p.Thr207Ile p.T207I ENST00000292125 NM_002782.4 207 aCa/aTa 0 -PSG7 UCSF GRCh37 19 43430146 43430146 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 98 80 150 0 ENST00000406070.2:c.1022T>C p.Phe341Ser p.F341S ENST00000406070 NM_002783.2 341 tTc/tCc 0 -PSMD1 UCSF GRCh37 2 231944942 231944942 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 8 45 0 ENST00000308696.6:c.1327C>T p.Leu443Phe p.L443F ENST00000308696 NM_002807.3 443 Ctc/Ttc 0 -PSMD13 UCSF GRCh37 11 248855 248855 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 32 45 0 ENST00000532097.1:c.648C>T p.Leu216= p.L216= ENST00000532097 NM_002817.3 216 ctC/ctT 0 -PSMD2 UCSF GRCh37 3 184017696 184017696 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 9 25 74 0 ENST00000310118.4:c.192+1G>A p.X64_splice ENST00000310118 NM_002808.4 0 -PSPC1 UCSF GRCh37 13 20346466 20346466 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 13 73 0 ENST00000338910.4:c.590G>A p.Gly197Glu p.G197E ENST00000338910 NM_001042414.2 197 gGa/gAa 0 -PSTPIP1 UCSF GRCh37 15 77323605 77323605 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 12 37 0 ENST00000558012.1:c.727G>A p.Val243Ile p.V243I ENST00000558012 NM_003978.3 243 Gtc/Atc 0 -PTEN UCSF GRCh37 10 89690824 89690824 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 25 57 0 ENST00000371953.3:c.231C>T p.Asp77= p.D77= ENST00000371953 NM_000314.4 77 gaC/gaT 0 -PTGER4 UCSF GRCh37 5 40692104 40692104 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 6 47 0 ENST00000302472.3:c.1091C>T p.Ser364Leu p.S364L ENST00000302472 NM_000958.2 364 tCa/tTa 0 -PTGS1 UCSF GRCh37 9 125143830 125143830 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 13 31 0 ENST00000362012.2:c.677G>A p.Gly226Glu p.G226E ENST00000362012 NM_000962.3 226 gGg/gAg 0 -PTK7 UCSF GRCh37 6 43109797 43109797 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 10 21 0 ENST00000230419.4:c.1897G>A p.Asp633Asn p.D633N ENST00000230419 NM_002821.4 633 Gac/Aac 0 -PTK7 UCSF GRCh37 6 43098292 43098292 + synonymous_variant Silent SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 33 8 9 0 ENST00000230419.4:c.705A>G p.Val235= p.V235= ENST00000230419 NM_002821.4 235 gtA/gtG 0 -PTPN13 UCSF GRCh37 4 87690936 87690936 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 55 22 66 0 ENST00000411767.2:c.4504G>A p.Val1502Ile p.V1502I ENST00000411767 1502 Gta/Ata 0 -PTPN13 UCSF GRCh37 4 87731108 87731108 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 53 85 0 ENST00000411767.2:c.7270G>A p.Val2424Ile p.V2424I ENST00000411767 2424 Gtt/Att 0 -PTPN14 UCSF GRCh37 1 214546053 214546053 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 29 79 0 ENST00000366956.5:c.3036+1G>A p.X1012_splice ENST00000366956 NM_005401.4 0 -PTPN18 UCSF GRCh37 2 131128349 131128349 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 5 28 0 ENST00000175756.5:c.828G>A p.Gln276= p.Q276= ENST00000175756 NM_014369.3 276 caG/caA 0 -PTPRD UCSF GRCh37 9 8524986 8524986 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 7 100 0 ENST00000356435.5:c.618G>A p.Glu206= p.E206= ENST00000356435 206 gaG/gaA 0 -PTPRH UCSF GRCh37 19 55708101 55708101 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 9 13 0 ENST00000376350.3:c.2046C>T p.Val682= p.V682= ENST00000376350 NM_002842.3 682 gtC/gtT 0 -PTPRJ UCSF GRCh37 11 48145317 48145317 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 33 60 0 ENST00000418331.2:c.769G>A p.Val257Ile p.V257I ENST00000418331 NM_002843.3 257 Gtc/Atc 0 -PTPRQ UCSF GRCh37 12 81064145 81064145 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 13 100 0 ENST00000266688.5:c.6464G>A p.Arg2155Gln p.R2155Q ENST00000266688 2155 cGa/cAa 0 -PTPRS UCSF GRCh37 19 5231373 5231373 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 3 11 0 ENST00000357368.4:c.2103G>A p.Glu701= p.E701= ENST00000357368 NM_002850.3 701 gaG/gaA 0 -PTPRT UCSF GRCh37 20 41514503 41514503 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 10 29 0 ENST00000373187.1:c.158C>T p.Thr53Ile p.T53I ENST00000373187 53 aCc/aTc 0 -PTTG1IP UCSF GRCh37 21 46276217 46276217 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 13 26 0 ENST00000330938.3:c.340G>A p.Ala114Thr p.A114T ENST00000330938 NM_004339.3 114 Gcc/Acc 0 -PWP2 UCSF GRCh37 21 45550639 45550639 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 4 39 0 ENST00000291576.7:c.2746G>A p.Glu916Lys p.E916K ENST00000291576 NM_005049.2 916 Gag/Aag 0 -PXDNL UCSF GRCh37 8 52321585 52321585 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 20 30 0 ENST00000356297.4:c.2599C>T p.Pro867Ser p.P867S ENST00000356297 NM_144651.4 867 Ccc/Tcc 0 -PYGO2 UCSF GRCh37 1 154932010 154932010 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 9 21 0 ENST00000368457.2:c.466C>T p.Pro156Ser p.P156S ENST00000368457 NM_138300.3 156 Ccc/Tcc 0 -QARS1 UCSF GRCh37 3 49136792 49136792 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 56 7 28 0 ENST00000306125.6:c.1599C>T p.Asn533= p.N533= ENST00000306125 NM_001272073.1 533 aaC/aaT 0 -QKI UCSF GRCh37 6 163986999 163986999 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 29 60 0 ENST00000361752.3:c.935-754G>A *312* ENST00000361752 NM_006775.2 0 -RAB3GAP2 UCSF GRCh37 1 220340977 220340977 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 59 114 0 ENST00000358951.2:c.2847G>A p.Gln949= p.Q949= ENST00000358951 NM_012414.3 949 caG/caA 0 -RAB5B UCSF GRCh37 12 56380896 56380896 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 33 20 44 0 ENST00000360299.5:c.152G>A p.Ser51Asn p.S51N ENST00000360299 NM_002868.3 51 aGc/aAc 0 -RAB7A UCSF GRCh37 3 128514263 128514263 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 18 79 0 ENST00000265062.3:c.53G>A p.Gly18Glu p.G18E ENST00000265062 NM_004637.5 18 gGa/gAa 0 -RABL2A UCSF GRCh37 2 114392709 114392709 + splice_donor_variant Splice_Site SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 24 10 22 0 ENST00000393166.3:c.297+2T>C p.X99_splice ENST00000393166 0 -RAD17 UCSF GRCh37 5 68669849 68669849 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 100 17 119 0 ENST00000380774.3:c.235G>A p.Glu79Lys p.E79K ENST00000380774 NM_133339.2 79 Gaa/Aaa 0 -RAD50 UCSF GRCh37 5 131926937 131926937 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 104 23 95 0 ENST00000378823.3:c.1057G>A p.Glu353Lys p.E353K ENST00000378823 NM_005732.3 353 Gag/Aag 0 -RAG1 UCSF GRCh37 11 36595248 36595248 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 19 55 0 ENST00000299440.5:c.394C>T p.Pro132Ser p.P132S ENST00000299440 NM_000448.2 132 Cct/Tct 0 -RALGAPB UCSF GRCh37 20 37150153 37150153 + synonymous_variant Silent SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 56 45 102 0 ENST00000262879.6:c.1431A>G p.Gln477= p.Q477= ENST00000262879 477 caA/caG 0 -RALYL UCSF GRCh37 8 85441705 85441705 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 126 23 113 0 ENST00000521268.1:c.149G>A p.Gly50Glu p.G50E ENST00000521268 NM_173848.5 50 gGa/gAa 0 -RAPGEF2 UCSF GRCh37 4 160264305 160264305 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 32 96 0 ENST00000264431.4:c.2610C>T p.Phe870= p.F870= ENST00000264431 NM_014247.2 870 ttC/ttT 0 -RASA3 UCSF GRCh37 13 114766378 114766378 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 12 52 0 ENST00000334062.7:c.1773G>A p.Lys591= p.K591= ENST00000334062 NM_007368.2 591 aaG/aaA 0 -RASGRP1 UCSF GRCh37 15 38852131 38852131 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 23 45 0 ENST00000310803.5:c.111C>T p.Ser37= p.S37= ENST00000310803 NM_005739.3 37 tcC/tcT 0 -RASGRP3 UCSF GRCh37 2 33774783 33774783 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 183 31 170 0 ENST00000402538.3:c.1507C>T p.Leu503Phe p.L503F ENST00000402538 NM_170672.2 503 Ctc/Ttc 0 -RB1 UCSF GRCh37 13 49047527 49047527 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 44 36 101 0 ENST00000267163.4:c.2520+1G>A p.X840_splice ENST00000267163 NM_000321.2 0 -RBBP4 UCSF GRCh37 1 33134587 33134587 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 71 79 0 ENST00000373493.5:c.615G>A p.Trp205Ter p.W205* ENST00000373493 NM_005610.2 205 tgG/tgA 0 -RBL1 UCSF GRCh37 20 35672623 35672623 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 38 68 0 ENST00000373664.3:c.1636G>A p.Gly546Arg p.G546R ENST00000373664 NM_002895.3 546 Ggg/Agg 0 -RBM12 UCSF GRCh37 20 34241488 34241488 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 109 69 158 0 ENST00000359646.1:c.1757G>A p.Gly586Glu p.G586E ENST00000359646 586 gGa/gAa 0 -RBM12B UCSF GRCh37 8 94748329 94748329 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 107 60 121 0 ENST00000399300.2:c.310G>A p.Asp104Asn p.D104N ENST00000399300 NM_203390.2 104 Gac/Aac 0 -RBM5 UCSF GRCh37 3 50144935 50144935 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 3 40 0 ENST00000347869.3:c.974G>A p.Gly325Asp p.G325D ENST00000347869 NM_005778.3 325 gGt/gAt 0 -RBP3 UCSF GRCh37 10 48388081 48388081 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 13 16 0 ENST00000224600.4:c.2797C>T p.Leu933= p.L933= ENST00000224600 NM_002900.2 933 Ctg/Ttg 0 -RECQL UCSF GRCh37 12 21639413 21639413 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 10 46 0 ENST00000421138.2:c.501G>A p.Lys167= p.K167= ENST00000421138 167 aaG/aaA 0 -RECQL5 UCSF GRCh37 17 73625024 73625024 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 14 34 0 ENST00000317905.5:c.2479G>A p.Glu827Lys p.E827K ENST00000317905 NM_004259.6 827 Gag/Aag 0 -RELN UCSF GRCh37 7 103194156 103194156 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 18 66 0 ENST00000428762.1:c.5920C>T p.Pro1974Ser p.P1974S ENST00000428762 NM_005045.3 1974 Cct/Tct 0 -RELN UCSF GRCh37 7 103194216 103194216 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 70 8 87 0 ENST00000428762.1:c.5860C>T p.Pro1954Ser p.P1954S ENST00000428762 NM_005045.3 1954 Cct/Tct 0 -REN UCSF GRCh37 1 204124220 204124220 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 6 27 0 ENST00000272190.8:c.1145G>A p.Gly382Glu p.G382E ENST00000272190 NM_000537.3 382 gGg/gAg 0 -REPS1 UCSF GRCh37 6 139265669 139265669 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 92 47 117 0 ENST00000450536.2:c.719G>A p.Ser240Asn p.S240N ENST00000450536 NM_001286611.1 240 aGt/aAt 0 -RERE UCSF GRCh37 1 8526023 8526023 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 23 14 27 0 ENST00000337907.3:c.1165C>T p.Pro389Ser p.P389S ENST00000337907 NM_012102.3 389 Ccc/Tcc 0 -RERG UCSF GRCh37 12 15262121 15262121 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 24 65 0 ENST00000256953.2:c.523G>A p.Gly175Ser p.G175S ENST00000256953 NM_032918.2 175 Ggc/Agc 0 -RFWD3 UCSF GRCh37 16 74662375 74662375 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 23 69 0 ENST00000361070.4:c.1944G>A p.Arg648= p.R648= ENST00000361070 NM_018124.3 648 cgG/cgA 0 -RGL2 UCSF GRCh37 6 33263494 33263494 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 15 37 0 ENST00000497454.1:c.811C>T p.Leu271= p.L271= ENST00000497454 NM_004761.4 271 Ctg/Ttg 0 -RGMA UCSF GRCh37 15 93595396 93595396 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 4 10 0 ENST00000329082.7:c.472C>T p.Pro158Ser p.P158S ENST00000329082 NM_020211.2 158 Ccc/Tcc 0 -RGS22 UCSF GRCh37 8 101011541 101011541 + missense_variant Missense_Mutation SNP C C G NOVEL P01_Rec Untested WXS Illumina HiSeq 24 6 69 0 ENST00000360863.6:c.2898G>C p.Trp966Cys p.W966C ENST00000360863 NM_015668.3 966 tgG/tgC 0 -RGS3 UCSF GRCh37 9 116359220 116359220 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 6 28 0 ENST00000350696.5:c.3584G>A p.Ser1195Asn p.S1195N ENST00000350696 1195 aGt/aAt 0 -RHOBTB2 UCSF GRCh37 8 22861992 22861992 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 7 13 0 ENST00000251822.6:c.45C>T p.Ile15= p.I15= ENST00000251822 NM_015178.2 15 atC/atT 0 -RHOBTB2 UCSF GRCh37 8 22868110 22868110 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 25 40 0 ENST00000251822.6:c.1680C>T p.Thr560= p.T560= ENST00000251822 NM_015178.2 560 acC/acT 0 -RHOT2 UCSF GRCh37 16 720939 720939 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 4 9 0 ENST00000315082.4:c.687G>A p.Val229= p.V229= ENST00000315082 NM_138769.2 229 gtG/gtA 0 -RHOU UCSF GRCh37 1 228879096 228879096 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 93 63 138 0 ENST00000366691.3:c.386G>A p.Ser129Asn p.S129N ENST00000366691 NM_021205.5 129 aGt/aAt 0 -RHOU UCSF GRCh37 1 228879263 228879263 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 107 16 119 0 ENST00000366691.3:c.553G>A p.Glu185Lys p.E185K ENST00000366691 NM_021205.5 185 Gaa/Aaa 0 -RIC3 UCSF GRCh37 11 8161680 8161680 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 5 61 0 ENST00000309737.6:c.185C>T p.Thr62Ile p.T62I ENST00000309737 62 aCt/aTt 0 -RIF1 UCSF GRCh37 2 152314421 152314421 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 78 20 76 0 ENST00000243326.5:c.2799G>A p.Gln933= p.Q933= ENST00000243326 933 caG/caA 0 -RIN1 UCSF GRCh37 11 66102639 66102639 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 4 9 0 ENST00000311320.4:c.631C>T p.Pro211Ser p.P211S ENST00000311320 NM_004292.2 211 Cct/Tct 0 -RIOK2 UCSF GRCh37 5 96514771 96514771 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 82 14 91 0 ENST00000283109.3:c.193G>A p.Glu65Lys p.E65K ENST00000283109 NM_018343.2 65 Gag/Aag 0 -RIPK2 UCSF GRCh37 8 90775185 90775185 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 85 14 110 0 ENST00000220751.4:c.302G>A p.Gly101Glu p.G101E ENST00000220751 NM_003821.5 101 gGa/gAa 0 -RIPK3 UCSF GRCh37 14 24805471 24805471 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 18 32 0 ENST00000216274.5:c.1467G>A p.Gln489= p.Q489= ENST00000216274 NM_006871.3 489 caG/caA 0 -RNASEH1 UCSF GRCh37 2 3593451 3593451 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 136 31 57 0 ENST00000315212.3:c.785C>T p.Pro262Leu p.P262L ENST00000315212 NM_002936.3 262 cCt/cTt 0 -RNF122 UCSF GRCh37 8 33408577 33408577 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 135 28 120 0 ENST00000256257.1:c.255G>A p.Lys85= p.K85= ENST00000256257 NM_024787.3 85 aaG/aaA 0 -RNF141 UCSF GRCh37 11 10536554 10536554 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 11 87 0 ENST00000265981.2:c.602C>T p.Ser201Phe p.S201F ENST00000265981 NM_016422.3 201 tCt/tTt 0 -RNF157 UCSF GRCh37 17 74148449 74148449 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 23 63 0 ENST00000269391.6:c.1908G>A p.Glu636= p.E636= ENST00000269391 NM_052916.2 636 gaG/gaA 0 -RNF17 UCSF GRCh37 13 25424490 25424490 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 6 27 0 ENST00000255324.5:c.3113G>A p.Gly1038Glu p.G1038E ENST00000255324 NM_031277.2 1038 gGg/gAg 0 -RNF186 UCSF GRCh37 1 20141433 20141433 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 6 16 0 ENST00000375121.2:c.162G>A p.Lys54= p.K54= ENST00000375121 NM_019062.1 54 aaG/aaA 0 -RNF19A UCSF GRCh37 8 101273935 101273935 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 14 70 0 ENST00000341084.2:c.1517G>A p.Gly506Glu p.G506E ENST00000341084 NM_183419.3 506 gGa/gAa 0 -RNF20 UCSF GRCh37 9 104324237 104324237 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 163 69 144 0 ENST00000389120.3:c.2695C>T p.Pro899Ser p.P899S ENST00000389120 NM_019592.6 899 Cca/Tca 0 -RNF213 UCSF GRCh37 17 78321193 78321193 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 18 38 0 ENST00000582970.1:c.9058C>T p.Gln3020Ter p.Q3020* ENST00000582970 NM_001256071.1 3020 Cag/Tag 0 -RNF41 UCSF GRCh37 12 56602029 56602029 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 7 29 0 ENST00000345093.4:c.416G>A p.Arg139His p.R139H ENST00000345093 NM_005785.3 139 cGc/cAc 0 -RNF43 UCSF GRCh37 17 56435144 56435144 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 19 34 0 ENST00000407977.2:c.1993C>T p.Pro665Ser p.P665S ENST00000407977 665 Cct/Tct 0 -RNGTT UCSF GRCh37 6 89614661 89614661 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 20 89 0 ENST00000369485.4:c.457G>A p.Val153Ile p.V153I ENST00000369485 NM_003800.3 153 Gtt/Att 0 -RNLS UCSF GRCh37 10 90034789 90034789 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 8 44 0 ENST00000371947.3:c.877G>A p.Val293Ile p.V293I ENST00000371947 NM_018363.3 293 Gta/Ata 0 -RNMT UCSF GRCh37 18 13742486 13742486 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 42 140 0 ENST00000262173.3:c.975-1G>A p.X325_splice ENST00000262173 0 -ROBO1 UCSF GRCh37 3 78689011 78689011 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 17 33 0 ENST00000464233.1:c.2920C>T p.Pro974Ser p.P974S ENST00000464233 NM_002941.3 974 Cca/Tca 0 -ROCK1 UCSF GRCh37 18 18690815 18690815 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 84 19 71 0 ENST00000399799.2:c.57G>A p.Arg19= p.R19= ENST00000399799 NM_005406.2 19 cgG/cgA 0 -ROS1 UCSF GRCh37 6 117609783 117609783 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 27 74 0 ENST00000368508.3:c.6916G>A p.Glu2306Lys p.E2306K ENST00000368508 NM_002944.2 2306 Gag/Aag 0 -ROS1 UCSF GRCh37 6 117686340 117686340 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 37 83 0 ENST00000368508.3:c.3001C>T p.Pro1001Ser p.P1001S ENST00000368508 NM_002944.2 1001 Cct/Tct 0 -RP1L1 UCSF GRCh37 8 10464582 10464582 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 122 26 84 0 ENST00000382483.3:c.7026G>A p.Arg2342= p.R2342= ENST00000382483 NM_178857.5 2342 agG/agA 0 -RP1L1 UCSF GRCh37 8 10468188 10468188 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 13 30 0 ENST00000382483.3:c.3420G>A p.Arg1140= p.R1140= ENST00000382483 NM_178857.5 1140 agG/agA 0 -RPAP1 UCSF GRCh37 15 41809836 41809836 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 96 21 97 0 ENST00000304330.4:c.4086G>A p.Glu1362= p.E1362= ENST00000304330 NM_015540.2 1362 gaG/gaA 0 -RPF1 UCSF GRCh37 1 84945059 84945059 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 10 30 0 ENST00000370654.5:c.95G>A p.Gly32Glu p.G32E ENST00000370654 NM_025065.6 32 gGg/gAg 0 -RPGRIP1 UCSF GRCh37 14 21793437 21793437 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 19 63 0 ENST00000400017.2:c.2262G>A p.Leu754= p.L754= ENST00000400017 NM_020366.3 754 ctG/ctA 0 -RPL30 UCSF GRCh37 8 99057222 99057222 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 55 103 0 ENST00000287038.3:c.116G>A p.Arg39Lys p.R39K ENST00000287038 NM_000989.3 39 aGa/aAa 0 -RPL7 UCSF GRCh37 8 74204984 74204984 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 78 98 0 ENST00000352983.2:c.63G>A p.Lys21= p.K21= ENST00000352983 21 aaG/aaA 0 -RPS16 UCSF GRCh37 19 39924353 39924353 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 15 60 0 ENST00000251453.3:c.199G>A p.Asp67Asn p.D67N ENST00000251453 NM_001020.4 67 Gac/Aac 0 -RPS27A UCSF GRCh37 2 55462702 55462702 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 117 16 122 0 ENST00000272317.6:c.460G>A p.Glu154Lys p.E154K ENST00000272317 NM_002954.5 154 Gaa/Aaa 0 -RRP12 UCSF GRCh37 10 99141531 99141531 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 12 15 0 ENST00000370992.4:c.1261G>A p.Val421Met p.V421M ENST00000370992 NM_015179.3 421 Gtg/Atg 0 -RRP8 UCSF GRCh37 11 6622723 6622723 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 27 27 0 ENST00000254605.6:c.573G>A p.Arg191= p.R191= ENST00000254605 NM_015324.3 191 cgG/cgA 0 -RS1 UCSF GRCh37 X 18674867 18674867 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 8 26 35 0 ENST00000379984.3:c.90G>A p.Glu30= p.E30= ENST00000379984 NM_000330.3 30 gaG/gaA 0 -RSAD1 UCSF GRCh37 17 48559607 48559607 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 5 14 0 ENST00000258955.2:c.630G>A p.Gly210= p.G210= ENST00000258955 NM_018346.1 210 ggG/ggA 0 -RTN4IP1 UCSF GRCh37 6 107035715 107035715 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 20 59 0 ENST00000369063.3:c.829G>A p.Val277Ile p.V277I ENST00000369063 NM_032730.4 277 Gtt/Att 0 -RXRB UCSF GRCh37 6 33162485 33162485 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 5 22 0 ENST00000374680.3:c.1576C>T p.Leu526Phe p.L526F ENST00000374680 NM_021976.4 526 Ctt/Ttt 0 -RYK UCSF GRCh37 3 133894806 133894806 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 25 99 0 ENST00000296084.4:c.1386C>T p.Val462= p.V462= ENST00000296084 NM_001005861.2 462 gtC/gtT 0 -RYR3 UCSF GRCh37 15 34015071 34015071 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 121 16 84 0 ENST00000389232.4:c.6775C>T p.Pro2259Ser p.P2259S ENST00000389232 NM_001036.3 2259 Ccc/Tcc 0 -S100A7A UCSF GRCh37 1 153390636 153390636 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 26 63 0 ENST00000329256.2:c.78G>A p.Lys26= p.K26= ENST00000329256 26 aaG/aaA 0 -S1PR4 UCSF GRCh37 19 3179754 3179754 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 7 19 0 ENST00000246115.3:c.964C>T p.Leu322Phe p.L322F ENST00000246115 NM_003775.3 322 Ctc/Ttc 0 -SAG UCSF GRCh37 2 234229373 234229373 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 10 22 0 ENST00000409110.1:c.279G>A p.Gln93= p.Q93= ENST00000409110 NM_000541.4 93 caG/caA 0 -SART3 UCSF GRCh37 12 108930558 108930558 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 21 41 0 ENST00000228284.3:c.1313C>T p.Ser438Phe p.S438F ENST00000228284 NM_014706.3 438 tCc/tTc 0 -SATL1 UCSF GRCh37 X 84362618 84362618 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 7 22 0 ENST00000395409.3:c.796C>T p.Gln266Ter p.Q266* ENST00000395409 266 Caa/Taa 0 -SBF1 UCSF GRCh37 22 50893373 50893373 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 5 12 0 ENST00000380817.3:c.4682G>A p.Gly1561Glu p.G1561E ENST00000380817 NM_002972.2 1561 gGg/gAg 0 -SBF2 UCSF GRCh37 11 9871647 9871647 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 48 24 80 0 ENST00000256190.8:c.2729A>G p.Gln910Arg p.Q910R ENST00000256190 NM_030962.3 910 cAg/cGg 0 -SCAF4 UCSF GRCh37 21 33068918 33068918 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 18 4 23 0 ENST00000286835.7:c.923C>T p.Pro308Leu p.P308L ENST00000286835 NM_020706.2 308 cCc/cTc 0 -SCAMP4 UCSF GRCh37 19 1918968 1918968 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 23 27 0 ENST00000316097.8:c.374G>A p.Gly125Asp p.G125D ENST00000316097 NM_079834.2 125 gGc/gAc 0 -SCAPER UCSF GRCh37 15 77092596 77092596 + missense_variant Missense_Mutation SNP T T G NOVEL P01_Rec Untested WXS Illumina HiSeq 75 60 120 0 ENST00000324767.7:c.604A>C p.Asn202His p.N202H ENST00000324767 NM_020843.2 202 Aat/Cat 0 -SCARA3 UCSF GRCh37 8 27528549 27528549 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 3 21 0 ENST00000301904.3:c.1502C>T p.Pro501Leu p.P501L ENST00000301904 NM_016240.2 501 cCt/cTt 0 -SCARB1 UCSF GRCh37 12 125298883 125298883 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 3 47 31 0 ENST00000415380.2:c.495C>T p.Thr165= p.T165= ENST00000415380 165 acC/acT 0 -SCD UCSF GRCh37 10 102112124 102112124 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 17 56 0 ENST00000370355.2:c.312G>A p.Gly104= p.G104= ENST00000370355 NM_005063.4 104 ggG/ggA 0 -SCN11A UCSF GRCh37 3 38888991 38888991 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 23 59 0 ENST00000302328.3:c.4570C>T p.Pro1524Ser p.P1524S ENST00000302328 NM_014139.2 1524 Cca/Tca 0 -SCN1A UCSF GRCh37 2 166895998 166895998 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 15 82 0 ENST00000303395.4:c.2524C>T p.Leu842Phe p.L842F ENST00000303395 842 Ctt/Ttt 0 -SCN2A UCSF GRCh37 2 166165874 166165874 + synonymous_variant Silent SNP G G A snp132_rs2228983 P01_Rec Untested WXS Illumina HiSeq 69 44 97 0 ENST00000283256.6:c.618G>A p.Glu206= p.E206= ENST00000283256 NM_021007.2 206 gaG/gaA 0 -SCN4A UCSF GRCh37 17 62021109 62021109 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 8 46 0 ENST00000435607.1:c.4014C>T p.Pro1338= p.P1338= ENST00000435607 NM_000334.4 1338 ccC/ccT 0 -SCNN1B UCSF GRCh37 16 23392077 23392077 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 25 16 0 ENST00000343070.2:c.1878G>A p.Gln626= p.Q626= ENST00000343070 NM_000336.2 626 caG/caA 0 -SEC11C UCSF GRCh37 18 56819825 56819825 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 113 30 133 0 ENST00000587834.1:c.255G>A p.Arg85= p.R85= ENST00000587834 NM_033280.2 85 cgG/cgA 0 -SEC23B UCSF GRCh37 20 18508219 18508219 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 182 37 180 0 ENST00000262544.2:c.1073G>A p.Gly358Glu p.G358E ENST00000262544 358 gGa/gAa 0 -SEC23B UCSF GRCh37 20 18522964 18522964 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 124 15 110 0 ENST00000262544.2:c.1429G>A p.Gly477Ser p.G477S ENST00000262544 477 Ggc/Agc 0 -SEC24B UCSF GRCh37 4 110402884 110402884 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 72 48 84 0 ENST00000265175.5:c.1112C>T p.Pro371Leu p.P371L ENST00000265175 NM_006323.2 371 cCc/cTc 0 -SEL1L3 UCSF GRCh37 4 25849177 25849177 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 74 61 98 0 ENST00000399878.3:c.472G>A p.Asp158Asn p.D158N ENST00000399878 NM_015187.3 158 Gat/Aat 0 -SELE UCSF GRCh37 1 169702801 169702801 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 12 64 0 ENST00000333360.7:c.-48G>A p.X16_splice ENST00000333360 NM_000450.2 0 -SELE UCSF GRCh37 1 169702111 169702111 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 36 58 0 ENST00000333360.7:c.66G>A p.Trp22Ter p.W22* ENST00000333360 NM_000450.2 22 tgG/tgA 0 -SELRC1 UCSF GRCh37 1 53158423 53158423 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 10 47 0 ENST00000371538.3:c.223G>A p.Gly75Arg p.G75R ENST00000371538 NM_023077.2 75 Ggg/Agg 0 -SEMA3D UCSF GRCh37 7 84628924 84628924 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 31 55 0 ENST00000284136.6:c.2166C>T p.Ser722= p.S722= ENST00000284136 NM_152754.2 722 agC/agT 0 -SERINC2 UCSF GRCh37 1 31899568 31899568 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 11 38 0 ENST00000373709.3:c.678C>T p.Tyr226= p.Y226= ENST00000373709 NM_178865.4 226 taC/taT 0 -SERPINA6 UCSF GRCh37 14 94772555 94772555 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 6 21 0 ENST00000341584.3:c.885C>T p.Ser295= p.S295= ENST00000341584 NM_001756.3 295 agC/agT 0 -SERPINE1 UCSF GRCh37 7 100773852 100773852 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 102 64 105 0 ENST00000223095.4:c.422G>A p.Arg141Gln p.R141Q ENST00000223095 NM_000602.4 141 cGg/cAg 0 -SERPINE2 UCSF GRCh37 2 224866420 224866420 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 18 27 0 ENST00000258405.4:c.198G>A p.Gln66= p.Q66= ENST00000258405 NM_001136528.1 66 caG/caA 0 -SERPINF1 UCSF GRCh37 17 1679946 1679946 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 20 52 0 ENST00000254722.4:c.907C>T p.Arg303Ter p.R303* ENST00000254722 NM_002615.5 303 Cga/Tga 0 -SERPING1 UCSF GRCh37 11 57367484 57367484 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 55 9 55 0 ENST00000278407.4:c.184G>A p.Val62Ile p.V62I ENST00000278407 NM_000062.2 62 Gtt/Att 0 -SESN3 UCSF GRCh37 11 94911935 94911935 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 42 91 0 ENST00000536441.1:c.995G>A p.Gly332Asp p.G332D ENST00000536441 NM_144665.3 332 gGt/gAt 0 -SETD1A UCSF GRCh37 16 30977082 30977082 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 7 9 0 ENST00000262519.8:c.1880C>T p.Pro627Leu p.P627L ENST00000262519 NM_014712.1 627 cCc/cTc 0 -SETD2 UCSF GRCh37 3 47098404 47098404 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 4 45 0 ENST00000409792.3:c.6870G>A p.Gln2290= p.Q2290= ENST00000409792 NM_014159.6 2290 caG/caA 0 -SETD5 UCSF GRCh37 3 9483374 9483374 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 86 59 142 0 ENST00000402198.1:c.908G>A p.Gly303Glu p.G303E ENST00000402198 NM_001080517.1 303 gGg/gAg 0 -SEZ6 UCSF GRCh37 17 27296849 27296849 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 4 15 0 ENST00000317338.12:c.980C>T p.Thr327Ile p.T327I ENST00000317338 327 aCc/aTc 0 -SEZ6 UCSF GRCh37 17 27284412 27284412 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 31 77 0 ENST00000317338.12:c.2448C>T p.Arg816= p.R816= ENST00000317338 816 cgC/cgT 0 -SFSWAP UCSF GRCh37 12 132210037 132210037 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 14 56 0 ENST00000261674.4:c.694G>A p.Ala232Thr p.A232T ENST00000261674 NM_004592.3 232 Gcc/Acc 0 -SFTPD UCSF GRCh37 10 81702620 81702620 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 13 33 0 ENST00000372292.3:c.215C>T p.Ala72Val p.A72V ENST00000372292 NM_003019.4 72 gCa/gTa 0 -SFXN5 UCSF GRCh37 2 73215423 73215423 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 8 16 0 ENST00000272433.2:c.589C>T p.Leu197Phe p.L197F ENST00000272433 NM_144579.2 197 Ctt/Ttt 0 -SGIP1 UCSF GRCh37 1 67142712 67142712 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 26 59 0 ENST00000371037.4:c.672G>A p.Trp224Ter p.W224* ENST00000371037 NM_032291.2 224 tgG/tgA 0 -SGK1 UCSF GRCh37 6 134493417 134493417 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 89 21 114 0 ENST00000237305.7:c.700G>A p.Gly234Arg p.G234R ENST00000237305 NM_005627.3 234 Gga/Aga 0 -PRAG1 UCSF GRCh37 8 8235518 8235518 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 16 29 0 ENST00000520004.1:c.401G>A p.Gly134Asp p.G134D ENST00000520004 134 gGc/gAc 0 -SH3D21 UCSF GRCh37 1 36786324 36786324 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 15 35 0 ENST00000453908.2:c.2060G>A p.Gly687Glu p.G687E ENST00000453908 NM_001162530.1 687 gGa/gAa 0 -SH3PXD2A UCSF GRCh37 10 105386875 105386875 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 9 30 0 ENST00000369774.4:c.689C>T p.Ser230Phe p.S230F ENST00000369774 230 tCc/tTc 0 -SH3PXD2A UCSF GRCh37 10 105561100 105561100 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 7 28 0 ENST00000369774.4:c.93C>T p.Thr31= p.T31= ENST00000369774 31 acC/acT 0 -SH3RF2 UCSF GRCh37 5 145379823 145379823 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 5 21 0 ENST00000359120.4:c.581C>T p.Ala194Val p.A194V ENST00000359120 NM_152550.3 194 gCc/gTc 0 -SH3TC1 UCSF GRCh37 4 8221106 8221106 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 7 13 0 ENST00000245105.3:c.961C>T p.Pro321Ser p.P321S ENST00000245105 NM_018986.3 321 Ccc/Tcc 0 -SHANK2 UCSF GRCh37 11 70332216 70332216 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 6 31 0 ENST00000423696.2:c.3045C>T p.Pro1015= p.P1015= ENST00000423696 1015 ccC/ccT 0 -SIM1 UCSF GRCh37 6 100911214 100911214 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 30 59 0 ENST00000262901.4:c.131G>A p.Arg44Lys p.R44K ENST00000262901 NM_005068.2 44 aGa/aAa 0 -SIRPB1 UCSF GRCh37 20 1552408 1552408 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 10 39 0 ENST00000381605.4:c.709G>A p.Asp237Asn p.D237N ENST00000381605 NM_006065.3 237 Gac/Aac 0 -SLAMF6 UCSF GRCh37 1 160458953 160458953 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 63 7 38 0 ENST00000368057.3:c.804C>T p.Ser268= p.S268= ENST00000368057 268 tcC/tcT 0 -SLC12A6 UCSF GRCh37 15 34526102 34526102 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 16 47 0 ENST00000354181.3:c.3433G>A p.Val1145Met p.V1145M ENST00000354181 1145 Gtg/Atg 0 -SLC15A3 UCSF GRCh37 11 60708694 60708694 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 7 15 0 ENST00000227880.3:c.1176C>T p.Arg392= p.R392= ENST00000227880 NM_016582.2 392 cgC/cgT 0 -SLC1A5 UCSF GRCh37 19 47280365 47280365 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 5 20 22 0 ENST00000542575.2:c.1255G>A p.Val419Ile p.V419I ENST00000542575 NM_005628.2 419 Gtc/Atc 0 -SLC1A6 UCSF GRCh37 19 15061096 15061096 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 18 6 19 0 ENST00000221742.3:c.1606C>T p.Leu536Phe p.L536F ENST00000221742 NM_005071.2 536 Ctc/Ttc 0 -SLC22A16 UCSF GRCh37 6 110746096 110746096 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 90 55 115 0 ENST00000368919.3:c.1714G>A p.Asp572Asn p.D572N ENST00000368919 NM_033125.3 572 Gat/Aat 0 -SLC22A20 UCSF GRCh37 11 64985117 64985117 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 9 19 0 ENST00000525264.1:n.622G>A *208* ENST00000525264 0 -SLC24A1 UCSF GRCh37 15 65916651 65916651 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 49 72 0 ENST00000261892.6:c.233G>A p.Ser78Asn p.S78N ENST00000261892 NM_004727.2 78 aGc/aAc 0 -SLC25A37 UCSF GRCh37 8 23429182 23429182 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.008,1000g2011may_all_0.0299,snp132_rs34146184 P01_Rec Untested WXS Illumina HiSeq 55 12 53 0 ENST00000519973.1:c.831C>T p.Gly277= p.G277= ENST00000519973 NM_016612.2 277 ggC/ggT 0 -SLC26A2 UCSF GRCh37 5 149357685 149357685 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 21 88 0 ENST00000286298.4:c.470C>T p.Ser157Phe p.S157F ENST00000286298 NM_000112.3 157 tCc/tTc 0 -SLC26A8 UCSF GRCh37 6 35912088 35912088 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 94 40 80 0 ENST00000355574.2:c.2502C>T p.Ser834= p.S834= ENST00000355574 NM_001193476.1 834 agC/agT 0 -SLC27A6 UCSF GRCh37 5 128351585 128351585 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 35 91 0 ENST00000262462.4:c.977G>A p.Gly326Glu p.G326E ENST00000262462 326 gGa/gAa 0 -SLC28A2 UCSF GRCh37 15 45556211 45556211 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 10 70 0 ENST00000347644.3:c.579C>T p.His193= p.H193= ENST00000347644 NM_004212.3 193 caC/caT 0 -SLC2A12 UCSF GRCh37 6 134350161 134350161 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 63 34 126 0 ENST00000275230.5:c.802C>T p.Leu268= p.L268= ENST00000275230 NM_145176.2 268 Ctg/Ttg 0 -SLC2A4 UCSF GRCh37 17 7186928 7186928 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 22 49 0 ENST00000317370.8:c.287C>T p.Ser96Phe p.S96F ENST00000317370 NM_001042.2 96 tCc/tTc 0 -SLC30A1 UCSF GRCh37 1 211749417 211749417 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 121 21 121 0 ENST00000367001.4:c.837G>A p.Gly279= p.G279= ENST00000367001 NM_021194.2 279 ggG/ggA 0 -SLC30A3 UCSF GRCh37 2 27479746 27479746 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 8 15 0 ENST00000233535.4:c.793G>A p.Ala265Thr p.A265T ENST00000233535 NM_003459.4 265 Gcc/Acc 0 -SLC30A5 UCSF GRCh37 5 68425286 68425286 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 9 86 0 ENST00000396591.3:c.2140C>T p.Leu714Phe p.L714F ENST00000396591 NM_022902.4 714 Ctt/Ttt 0 -SLC30A8 UCSF GRCh37 8 118175722 118175722 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 12 66 0 ENST00000456015.2:c.782C>T p.Ala261Val p.A261V ENST00000456015 NM_173851.2 261 gCc/gTc 0 -SLC34A3 UCSF GRCh37 9 140127052 140127052 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 4 9 0 ENST00000361134.2:c.201C>T p.Arg67= p.R67= ENST00000361134 NM_080877.2 67 cgC/cgT 0 -SLC35F5 UCSF GRCh37 2 114512853 114512853 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 72 10 87 0 ENST00000245680.2:c.162C>T p.Asn54= p.N54= ENST00000245680 NM_025181.2 54 aaC/aaT 0 -SLC38A9 UCSF GRCh37 5 54948412 54948412 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 27 67 0 ENST00000318672.3:c.897C>T p.Leu299= p.L299= ENST00000318672 299 ctC/ctT 0 -SLC39A4 UCSF GRCh37 8 145637955 145637955 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 8 32 0 ENST00000301305.3:c.1911G>A p.Leu637= p.L637= ENST00000301305 NM_130849.3 637 ctG/ctA 0 -SLC39A6 UCSF GRCh37 18 33704519 33704519 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 30 74 0 ENST00000269187.5:c.934G>A p.Ala312Thr p.A312T ENST00000269187 NM_012319.3 312 Gct/Act 0 -SLC44A5 UCSF GRCh37 1 75693542 75693542 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 17 72 0 ENST00000370855.5:c.854G>A p.Gly285Glu p.G285E ENST00000370855 NM_152697.4 285 gGa/gAa 0 -SLC4A5 UCSF GRCh37 2 74459741 74459741 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 12 24 0 ENST00000346834.4:c.2629G>A p.Val877Met p.V877M ENST00000346834 877 Gtg/Atg 0 -SLC4A8 UCSF GRCh37 12 51855017 51855017 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 7 49 0 ENST00000453097.2:c.1043G>A p.Gly348Glu p.G348E ENST00000453097 NM_001039960.2 348 gGg/gAg 0 -SLC5A9 UCSF GRCh37 1 48701422 48701422 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 7 19 0 ENST00000438567.2:c.1163C>T p.Ala388Val p.A388V ENST00000438567 NM_001011547.2 388 gCc/gTc 0 -SLC6A12 UCSF GRCh37 12 309904 309904 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 44 43 0 ENST00000359674.4:c.624C>T p.Ser208= p.S208= ENST00000359674 NM_001122847.2 208 tcC/tcT 0 -SLC7A8 UCSF GRCh37 14 23635544 23635544 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 12 72 0 ENST00000316902.7:c.356+1G>A p.X119_splice ENST00000316902 NM_012244.3 0 -SLC9A10 UCSF GRCh37 3 111981803 111981803 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 34 95 0 ENST00000305815.5:c.1165C>T p.Leu389Phe p.L389F ENST00000305815 NM_183061.1 389 Ctt/Ttt 0 -SLC9A11 UCSF GRCh37 1 173517646 173517646 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 13 64 0 ENST00000367714.3:c.1343C>T p.Ala448Val p.A448V ENST00000367714 NM_178527.3 448 gCc/gTc 0 -SLC9A5 UCSF GRCh37 16 67291332 67291332 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 24 51 0 ENST00000299798.11:c.1420G>A p.Glu474Lys p.E474K ENST00000299798 NM_004594.2 474 Gaa/Aaa 0 -SLCO5A1 UCSF GRCh37 8 70650373 70650373 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 24 64 0 ENST00000260126.4:c.1325C>T p.Thr442Ile p.T442I ENST00000260126 NM_030958.2 442 aCa/aTa 0 -SLITRK5 UCSF GRCh37 13 88330363 88330363 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 12 58 0 ENST00000325089.6:c.2720G>A p.Gly907Glu p.G907E ENST00000325089 NM_015567.1 907 gGg/gAg 0 -SLMAP UCSF GRCh37 3 57846543 57846543 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 19 45 0 ENST00000428312.1:c.805G>A p.Val269Ile p.V269I ENST00000428312 269 Gtt/Att 0 -SLMO2 UCSF GRCh37 20 57613588 57613588 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 32 68 0 ENST00000355937.4:c.134C>T p.Pro45Leu p.P45L ENST00000355937 NM_016045.2 45 cCc/cTc 0 -SMAP1 UCSF GRCh37 6 71508401 71508401 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 19 85 0 ENST00000370455.3:c.537G>A p.Lys179= p.K179= ENST00000370455 NM_001281440.1 179 aaG/aaA 0 -SMARCA2 UCSF GRCh37 9 2039702 2039702 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 7 11 25 0 ENST00000349721.2:c.592C>T p.Leu198Phe p.L198F ENST00000349721 NM_003070.3 198 Ctc/Ttc 0 -SMARCC2 UCSF GRCh37 12 56567624 56567624 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 69 51 67 0 ENST00000267064.4:c.1506C>T p.Ala502= p.A502= ENST00000267064 NM_003075.3 502 gcC/gcT 0 -SMARCD1 UCSF GRCh37 12 50484110 50484110 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 15 62 0 ENST00000394963.4:c.960G>A p.Trp320Ter p.W320* ENST00000394963 NM_003076.4 320 tgG/tgA 0 -SMC6 UCSF GRCh37 2 17897360 17897360 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 47 108 0 ENST00000351948.4:c.1518C>T p.Gly506= p.G506= ENST00000351948 NM_024624.5 506 ggC/ggT 0 -SMC6 UCSF GRCh37 2 17897456 17897456 + synonymous_variant Silent SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 49 56 109 0 ENST00000351948.4:c.1422T>C p.Thr474= p.T474= ENST00000351948 NM_024624.5 474 acT/acC 0 -SMCHD1 UCSF GRCh37 18 2697853 2697853 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 14 76 0 ENST00000320876.6:c.1156G>A p.Val386Ile p.V386I ENST00000320876 NM_015295.2 386 Gta/Ata 0 -SMEK2 UCSF GRCh37 2 55825776 55825776 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 44 115 0 ENST00000345102.5:c.697G>A p.Ala233Thr p.A233T ENST00000345102 NM_001122964.1 233 Gct/Act 0 -SMG7 UCSF GRCh37 1 183515267 183515267 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P01_Rec Untested WXS Illumina HiSeq 7 0 ENST00000347615.2:c.2545del p.Met849Ter p.M849* ENST00000347615 NM_173156.2 846 gAa/ga 0 -SMURF1 UCSF GRCh37 7 98649907 98649907 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 11 38 0 ENST00000361125.1:c.642C>T p.Asn214= p.N214= ENST00000361125 NM_020429.2 214 aaC/aaT 0 -SMURF2 UCSF GRCh37 17 62559045 62559045 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 28 56 0 ENST00000262435.9:c.1056G>A p.Val352= p.V352= ENST00000262435 NM_022739.3 352 gtG/gtA 0 -SNAP47 UCSF GRCh37 1 227935657 227935657 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 55 7 40 0 ENST00000315781.5:c.355G>A p.Gly119Ser p.G119S ENST00000315781 119 Ggc/Agc 0 -SMT-ND1 UCSF GRCh37 7 127447556 127447556 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 16 76 0 ENST00000354725.3:c.1171C>T p.Arg391Cys p.R391C ENST00000354725 NM_014390.2 391 Cgt/Tgt 0 -SNRPA UCSF GRCh37 19 41268881 41268881 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 4 17 0 ENST00000243563.3:c.502G>A p.Gly168Ser p.G168S ENST00000243563 NM_004596.4 168 Ggt/Agt 0 -SNX4 UCSF GRCh37 3 125223584 125223584 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 23 64 0 ENST00000251775.4:c.146C>T p.Thr49Ile p.T49I ENST00000251775 NM_003794.3 49 aCa/aTa 0 -SNX4 UCSF GRCh37 3 125179650 125179650 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 4 55 0 ENST00000251775.4:c.909G>A p.Gln303= p.Q303= ENST00000251775 NM_003794.3 303 caG/caA 0 -SON UCSF GRCh37 21 34932013 34932013 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 93 15 146 0 ENST00000356577.4:c.6589C>T p.Pro2197Ser p.P2197S ENST00000356577 NM_138927.2 2197 Cct/Tct 0 -SORBS3 UCSF GRCh37 8 22424195 22424195 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 7 13 0 ENST00000240123.7:c.1112G>A p.Gly371Glu p.G371E ENST00000240123 NM_005775.4 371 gGg/gAg 0 -SOS2 UCSF GRCh37 14 50597331 50597331 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 15 82 0 ENST00000216373.5:c.3225G>A p.Glu1075= p.E1075= ENST00000216373 NM_006939.2 1075 gaG/gaA 0 -SOX13 UCSF GRCh37 1 204082180 204082180 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 3 10 0 ENST00000367204.1:c.137C>T p.Pro46Leu p.P46L ENST00000367204 NM_005686.2 46 cCt/cTt 0 -SP140 UCSF GRCh37 2 231101935 231101935 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 8 35 0 ENST00000392045.3:c.197G>A p.Gly66Asp p.G66D ENST00000392045 NM_007237.4 66 gGc/gAc 0 -SPACA7 UCSF GRCh37 13 113053461 113053461 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 19 65 0 ENST00000283550.3:c.323G>A p.Gly108Asp p.G108D ENST00000283550 NM_145248.4 108 gGc/gAc 0 -SPAG1 UCSF GRCh37 8 101232598 101232598 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 84 50 106 0 ENST00000251809.3:c.1627G>A p.Asp543Asn p.D543N ENST00000251809 NM_172218.2 543 Gat/Aat 0 -SPAG11B UCSF GRCh37 8 7320246 7320246 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 15 95 0 ENST00000297498.2:c.197G>A p.Arg66His p.R66H ENST00000297498 NM_016512.3 66 cGc/cAc 0 -SPAG9 UCSF GRCh37 17 49068013 49068013 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 16 47 0 ENST00000262013.7:c.2415C>T p.Asp805= p.D805= ENST00000262013 NM_001130528.2 805 gaC/gaT 0 -SPANXN4 UCSF GRCh37 X 142121991 142121991 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 11 35 0 ENST00000446864.1:c.259G>A p.Asp87Asn p.D87N ENST00000446864 NM_001009613.2 87 Gac/Aac 0 -SPATA20 UCSF GRCh37 17 48627611 48627611 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 6 36 0 ENST00000356488.4:c.988C>T p.His330Tyr p.H330Y ENST00000356488 NM_001258372.1 330 Cac/Tac 0 -SPATA6 UCSF GRCh37 1 48865249 48865249 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 87 30 87 0 ENST00000371847.3:c.554G>A p.Arg185Lys p.R185K ENST00000371847 NM_019073.2 185 aGa/aAa 0 -SPDYE4 UCSF GRCh37 17 8656648 8656648 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 13 20 0 ENST00000328794.6:c.645G>A p.Glu215= p.E215= ENST00000328794 NM_001128076.1 215 gaG/gaA 0 -SPEF2 UCSF GRCh37 5 35759703 35759703 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 129 18 137 0 ENST00000356031.3:c.3502C>T p.Leu1168Phe p.L1168F ENST00000356031 NM_024867.3 1168 Ctc/Ttc 0 -SPEG UCSF GRCh37 2 220338590 220338590 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 12 19 0 ENST00000312358.7:c.4412G>A p.Gly1471Asp p.G1471D ENST00000312358 NM_005876.4 1471 gGc/gAc 0 -SPHKAP UCSF GRCh37 2 228884573 228884573 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 155 23 141 0 ENST00000392056.3:c.997G>A p.Glu333Lys p.E333K ENST00000392056 NM_001142644.1 333 Gaa/Aaa 0 -SPHKAP UCSF GRCh37 2 228855860 228855860 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 12 50 0 ENST00000392056.3:c.4815G>A p.Gln1605= p.Q1605= ENST00000392056 NM_001142644.1 1605 caG/caA 0 -SPO11 UCSF GRCh37 20 55909861 55909861 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 20 41 0 ENST00000371263.3:c.566G>A p.Gly189Asp p.G189D ENST00000371263 NM_012444.2 189 gGc/gAc 0 -SPTA1 UCSF GRCh37 1 158639310 158639310 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 76 66 105 0 ENST00000368147.4:c.1721G>A p.Arg574Lys p.R574K ENST00000368147 NM_003126.2 574 aGa/aAa 0 -SPTA1 UCSF GRCh37 1 158655131 158655131 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 11 69 0 ENST00000368147.4:c.31G>A p.Glu11Lys p.E11K ENST00000368147 NM_003126.2 11 Gag/Aag 0 -SPTAN1 UCSF GRCh37 9 131337077 131337077 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 75 27 56 0 ENST00000372731.4:c.487G>A p.Asp163Asn p.D163N ENST00000372731 NM_003127.3 163 Gac/Aac 0 -SPTAN1 UCSF GRCh37 9 131337540 131337540 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 91 33 91 0 ENST00000372731.4:c.567G>A p.Lys189= p.K189= ENST00000372731 NM_003127.3 189 aaG/aaA 0 -SRCIN1 UCSF GRCh37 17 36708983 36708983 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 29 50 0 ENST00000264659.7:c.2310G>A p.Gly770= p.G770= ENST00000264659 NM_025248.2 770 ggG/ggA 0 -SRD5A2 UCSF GRCh37 2 31758811 31758811 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 28 48 0 ENST00000405650.1:n.473C>T *158* ENST00000405650 0 -SRRM2 UCSF GRCh37 16 2817289 2817289 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 10 31 0 ENST00000301740.8:c.6760G>A p.Val2254Met p.V2254M ENST00000301740 NM_016333.3 2254 Gtg/Atg 0 -SRRM2 UCSF GRCh37 16 2807494 2807494 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 25 59 0 ENST00000301740.8:c.264G>A p.Gln88= p.Q88= ENST00000301740 NM_016333.3 88 caG/caA 0 -SRRT UCSF GRCh37 7 100482407 100482407 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 9 25 0 ENST00000347433.4:c.989G>A p.Gly330Asp p.G330D ENST00000347433 330 gGt/gAt 0 -SRSF1 UCSF GRCh37 17 56082832 56082832 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 92 19 70 0 ENST00000258962.4:c.682C>T p.Pro228Ser p.P228S ENST00000258962 NM_006924.4 228 Cca/Tca 0 -SS18 UCSF GRCh37 18 23658055 23658055 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 15 66 0 ENST00000415083.2:c.216G>A p.Gln72= p.Q72= ENST00000415083 NM_001007559.1 72 caG/caA 0 -SSH2 UCSF GRCh37 17 28004719 28004719 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 30 72 0 ENST00000269033.3:c.439G>A p.Asp147Asn p.D147N ENST00000269033 NM_033389.2 147 Gac/Aac 0 -SSPO UCSF GRCh37 7 149484482 149484482 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 9 41 0 ENST00000378016.2:n.3405C>T *1135* ENST00000378016 0 -SSTR2 UCSF GRCh37 17 71166313 71166313 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 85 11 47 0 ENST00000357585.2:c.855C>T p.Ser285= p.S285= ENST00000357585 NM_001050.2 285 agC/agT 0 -SSX1 UCSF GRCh37 X 48123289 48123289 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 22 72 0 ENST00000376919.3:c.403G>A p.Asp135Asn p.D135N ENST00000376919 NM_005635.3 135 Gat/Aat 0 -ST18 UCSF GRCh37 8 53028885 53028885 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 25 50 0 ENST00000276480.7:c.2953C>T p.Leu985= p.L985= ENST00000276480 NM_014682.2 985 Cta/Tta 0 -ST3GAL5 UCSF GRCh37 2 86090527 86090527 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 41 47 0 ENST00000377332.3:c.164G>A p.Ser55Asn p.S55N ENST00000377332 NM_003896.3 55 aGc/aAc 0 -ST8SIA1 UCSF GRCh37 12 22440198 22440198 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 7 53 0 ENST00000396037.4:c.266C>T p.Ala89Val p.A89V ENST00000396037 NM_003034.3 89 gCc/gTc 0 -STAG1 UCSF GRCh37 3 136341997 136341997 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 24 125 0 ENST00000383202.2:c.123C>T p.Gly41= p.G41= ENST00000383202 NM_005862.2 41 ggC/ggT 0 -STAG3 UCSF GRCh37 7 99808690 99808690 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 12 23 0 ENST00000317296.5:c.3295C>T p.Leu1099= p.L1099= ENST00000317296 NM_012447.2 1099 Ctg/Ttg 0 -STARD13 UCSF GRCh37 13 33686902 33686902 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 110 17 94 0 ENST00000336934.5:c.2448C>T p.Pro816= p.P816= ENST00000336934 NM_178006.3 816 ccC/ccT 0 -STAT5A UCSF GRCh37 17 40447808 40447808 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 5 21 0 ENST00000345506.4:c.547C>T p.Gln183Ter p.Q183* ENST00000345506 NM_003152.3 183 Caa/Taa 0 -STC2 UCSF GRCh37 5 172744859 172744859 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 63 12 85 0 ENST00000265087.4:c.900C>T p.Ile300= p.I300= ENST00000265087 NM_003714.2 300 atC/atT 0 -STEAP1 UCSF GRCh37 7 89790512 89790512 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 120 15 121 0 ENST00000297205.2:c.478A>G p.Thr160Ala p.T160A ENST00000297205 NM_012449.2 160 Aca/Gca 0 -STIL UCSF GRCh37 1 47767251 47767251 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 30 73 0 ENST00000360380.3:c.435C>T p.Asp145= p.D145= ENST00000360380 NM_001282936.1 145 gaC/gaT 0 -STIM1 UCSF GRCh37 11 4091387 4091387 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 27 41 0 ENST00000300737.4:c.745G>A p.Glu249Lys p.E249K ENST00000300737 NM_003156.3 249 Gag/Aag 0 -STK17B UCSF GRCh37 2 197021289 197021289 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 41 78 0 ENST00000263955.4:c.209G>A p.Gly70Glu p.G70E ENST00000263955 NM_004226.3 70 gGa/gAa 0 -STK35 UCSF GRCh37 20 2083970 2083970 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 9 6 14 0 ENST00000381482.3:c.851G>A p.Ser284Asn p.S284N ENST00000381482 284 aGc/aAc 0 -STMN3 UCSF GRCh37 20 62275234 62275234 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 4 15 21 0 ENST00000370053.1:c.166G>A p.Val56Ile p.V56I ENST00000370053 NM_015894.3 56 Gtc/Atc 0 -STXBP5 UCSF GRCh37 6 147685202 147685202 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 111 21 121 0 ENST00000321680.6:c.2981G>A p.Arg994Lys p.R994K ENST00000321680 NM_001127715.2 994 aGa/aAa 0 -SUGP1 UCSF GRCh37 19 19420913 19420913 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 18 36 0 ENST00000247001.5:c.303C>T p.Thr101= p.T101= ENST00000247001 NM_172231.3 101 acC/acT 0 -SULT1A2 UCSF GRCh37 16 28603601 28603601 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 81 11 49 0 ENST00000335715.4:c.758C>T p.Ser253Phe p.S253F ENST00000335715 NM_001054.3 253 tCc/tTc 0 -SUPT5H UCSF GRCh37 19 39949503 39949503 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 9 40 0 ENST00000432763.2:c.365C>T p.Ala122Val p.A122V ENST00000432763 NM_001111020.2 122 gCt/gTt 0 -SUPT6H UCSF GRCh37 17 27008350 27008350 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 12 44 0 ENST00000314616.6:c.1426C>T p.Pro476Ser p.P476S ENST00000314616 NM_003170.3 476 Cct/Tct 0 -SWAP70 UCSF GRCh37 11 9746358 9746358 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 42 95 0 ENST00000318950.6:c.568G>A p.Gly190Ser p.G190S ENST00000318950 NM_015055.2 190 Ggc/Agc 0 -SYCE2 UCSF GRCh37 19 13010179 13010179 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 17 36 0 ENST00000293695.7:c.633G>A p.Gln211= p.Q211= ENST00000293695 NM_001105578.1 211 caG/caA 0 -SYCP1 UCSF GRCh37 1 115400096 115400096 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 15 56 0 ENST00000369518.1:c.269G>A p.Gly90Glu p.G90E ENST00000369518 90 gGa/gAa 0 -SYF2 UCSF GRCh37 1 25549922 25549922 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 134 27 115 0 ENST00000236273.4:c.567G>A p.Gln189= p.Q189= ENST00000236273 NM_015484.4 189 caG/caA 0 -SYNE2 UCSF GRCh37 14 64519153 64519153 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 15 89 0 ENST00000344113.4:c.8522C>T p.Ala2841Val p.A2841V ENST00000344113 NM_015180.4 2841 gCt/gTt 0 -SYNM UCSF GRCh37 15 99670863 99670863 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 22 44 0 ENST00000336292.6:c.2295C>T p.Val765= p.V765= ENST00000336292 NM_145728.2 765 gtC/gtT 0 -SYNPO2 UCSF GRCh37 4 119944628 119944628 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 25 69 0 ENST00000429713.2:c.149G>A p.Gly50Glu p.G50E ENST00000429713 NM_001128933.1 50 gGa/gAa 0 -SYNPO2L UCSF GRCh37 10 75414027 75414027 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 3 9 0 ENST00000394810.2:c.117G>A p.Arg39= p.R39= ENST00000394810 NM_001114133.1 39 cgG/cgA 0 -SYNRG UCSF GRCh37 17 35946594 35946594 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 9 65 0 ENST00000339208.6:c.304C>T p.Leu102= p.L102= ENST00000339208 NM_001163544.1 102 Ctg/Ttg 0 -SYPL2 UCSF GRCh37 1 110022032 110022032 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 29 35 0 ENST00000369872.3:c.681C>T p.Ala227= p.A227= ENST00000369872 NM_001040709.1 227 gcC/gcT 0 -SYTL2 UCSF GRCh37 11 85447625 85447625 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 15 60 0 ENST00000528231.1:c.502C>T p.Pro168Ser p.P168S ENST00000528231 NM_001162951.1 168 Cca/Tca 0 -SYVN1 UCSF GRCh37 11 64898470 64898470 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 17 40 0 ENST00000377190.3:c.862G>A p.Asp288Asn p.D288N ENST00000377190 NM_172230.2 288 Gac/Aac 0 -SYVN1 UCSF GRCh37 11 64899725 64899725 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 15 28 0 ENST00000377190.3:c.525C>T p.Gly175= p.G175= ENST00000377190 NM_172230.2 175 ggC/ggT 0 -TAB2 UCSF GRCh37 6 149699780 149699780 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 46 113 0 ENST00000367456.1:c.729C>T p.Asn243= p.N243= ENST00000367456 243 aaC/aaT 0 -TACC2 UCSF GRCh37 10 123846070 123846070 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 1 13 24 0 ENST00000334433.3:c.4055G>A p.Gly1352Asp p.G1352D ENST00000334433 1352 gGt/gAt 0 -TACC2 UCSF GRCh37 10 123903218 123903218 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 4 24 0 ENST00000334433.3:c.5831G>A p.Ser1944Asn p.S1944N ENST00000334433 1944 aGc/aAc 0 -TACR1 UCSF GRCh37 2 75347752 75347752 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 28 36 0 ENST00000305249.5:c.532G>A p.Val178Ile p.V178I ENST00000305249 NM_001058.3 178 Gtc/Atc 0 -TADA2A UCSF GRCh37 17 35802753 35802753 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 9 73 0 ENST00000394395.2:c.531G>A p.Glu177= p.E177= ENST00000394395 NM_001166105.1 177 gaG/gaA 0 -TAF1L UCSF GRCh37 9 32630947 32630947 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 103 56 165 0 ENST00000242310.4:c.4631C>T p.Ser1544Phe p.S1544F ENST00000242310 NM_153809.2 1544 tCt/tTt 0 -TAF3 UCSF GRCh37 10 7866448 7866448 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 88 46 126 0 ENST00000344293.5:c.334C>T p.Pro112Ser p.P112S ENST00000344293 NM_031923.3 112 Cct/Tct 0 -TAGAP UCSF GRCh37 6 159457737 159457737 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 72 11 72 0 ENST00000367066.3:c.1318C>T p.Leu440= p.L440= ENST00000367066 NM_054114.4 440 Ctg/Ttg 0 -TAOK3 UCSF GRCh37 12 118627651 118627651 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 50 103 0 ENST00000392533.3:c.1290G>A p.Arg430= p.R430= ENST00000392533 NM_016281.3 430 cgG/cgA 0 -TARBP1 UCSF GRCh37 1 234563473 234563473 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 8 56 0 ENST00000040877.1:c.3100G>A p.Gly1034Arg p.G1034R ENST00000040877 NM_005646.3 1034 Gga/Aga 0 -TAS1R1 UCSF GRCh37 1 6634898 6634898 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 12 17 0 ENST00000333172.6:c.706G>A p.Gly236Arg p.G236R ENST00000333172 NM_138697.3 236 Ggg/Agg 0 -TAS2R30 UCSF GRCh37 12 11286113 11286113 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 127 50 124 0 ENST00000539585.1:c.731C>T p.Ser244Phe p.S244F ENST00000539585 NM_001097643.1 244 tCc/tTc 0 -TAS2R31 UCSF GRCh37 12 11183443 11183443 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 93 63 154 0 ENST00000390675.2:c.492G>A p.Trp164Ter p.W164* ENST00000390675 NM_176885.2 164 tgG/tgA 0 -TAS2R60 UCSF GRCh37 7 143140762 143140762 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 40 74 0 ENST00000332690.1:c.217G>A p.Val73Ile p.V73I ENST00000332690 NM_177437.1 73 Gta/Ata 0 -TBC1D1 UCSF GRCh37 4 38134768 38134768 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 69 62 70 0 ENST00000261439.4:c.3196G>A p.Glu1066Lys p.E1066K ENST00000261439 NM_015173.3 1066 Gaa/Aaa 0 -TBC1D10A UCSF GRCh37 22 30691779 30691779 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 6 11 0 ENST00000215790.7:c.471C>T p.Asp157= p.D157= ENST00000215790 NM_031937.2 157 gaC/gaT 0 -TBC1D25 UCSF GRCh37 X 48419031 48419031 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 8 48 0 ENST00000376771.4:c.1735G>A p.Val579Ile p.V579I ENST00000376771 NM_002536.2 579 Gta/Ata 0 -TBC1D30 UCSF GRCh37 12 65232609 65232609 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 81 69 85 0 ENST00000539867.1:c.910G>A p.Ala304Thr p.A304T ENST00000539867 NM_015279.1 304 Gct/Act 0 -TBCD UCSF GRCh37 17 80884302 80884302 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 32 62 0 ENST00000355528.4:c.2406C>T p.Thr802= p.T802= ENST00000355528 NM_005993.4 802 acC/acT 0 -TCEB3 UCSF GRCh37 1 24077496 24077496 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 26 54 0 ENST00000418390.2:c.479G>A p.Arg160Lys p.R160K ENST00000418390 NM_003198.2 160 aGg/aAg 0 -TCF3 UCSF GRCh37 19 1612371 1612371 + intron_variant Intron SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 5 19 0 ENST00000262965.5:c.1823-523G>A *608* ENST00000262965 NM_003200.3 0 -TCF7L1 UCSF GRCh37 2 85510672 85510672 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 88 56 71 0 ENST00000282111.3:c.496G>A p.Asp166Asn p.D166N ENST00000282111 NM_031283.2 166 Gac/Aac 0 -TCN2 UCSF GRCh37 22 31018968 31018968 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 33 84 0 ENST00000215838.3:c.1120G>A p.Ala374Thr p.A374T ENST00000215838 374 Gcc/Acc 0 -TCP11 UCSF GRCh37 6 35107840 35107840 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 80 37 93 0 ENST00000512012.1:c.124+684C>T *42* ENST00000512012 0 -TCP11L1 UCSF GRCh37 11 33094171 33094171 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 93 20 91 0 ENST00000334274.4:c.1479C>T p.Val493= p.V493= ENST00000334274 NM_018393.3 493 gtC/gtT 0 -TDO2 UCSF GRCh37 4 156824919 156824919 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 32 77 0 ENST00000536354.2:c.9G>A p.Gly3= p.G3= ENST00000536354 NM_005651.3 3 ggG/ggA 0 -TDRD7 UCSF GRCh37 9 100245182 100245182 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 110 28 109 0 ENST00000355295.4:c.2464C>T p.Pro822Ser p.P822S ENST00000355295 NM_014290.2 822 Cct/Tct 0 -TECPR1 UCSF GRCh37 7 97862967 97862967 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 10 18 0 ENST00000447648.2:c.1438C>T p.Pro480Ser p.P480S ENST00000447648 NM_015395.2 480 Ccc/Tcc 0 -TENC1 UCSF GRCh37 12 53453653 53453653 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 10 19 0 ENST00000314250.6:c.2228G>A p.Gly743Glu p.G743E ENST00000314250 NM_170754.2 743 gGg/gAg 0 -TET2 UCSF GRCh37 4 106164085 106164085 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 48 22 60 0 ENST00000380013.4:c.3594+1G>A p.X1198_splice ENST00000380013 NM_001127208.2 0 -TET2 UCSF GRCh37 4 106157043 106157043 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 28 61 0 ENST00000380013.4:c.1944C>T p.Asp648= p.D648= ENST00000380013 NM_001127208.2 648 gaC/gaT 0 -TET2 UCSF GRCh37 4 106155153 106155153 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 18 48 0 ENST00000380013.4:c.54G>A p.Leu18= p.L18= ENST00000380013 NM_001127208.2 18 ctG/ctA 0 -TEX11 UCSF GRCh37 X 69811660 69811660 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 3 14 20 0 ENST00000344304.3:c.2126G>A p.Ser709Asn p.S709N ENST00000344304 709 aGt/aAt 0 -TEX11 UCSF GRCh37 X 69749812 69749812 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 3 43 41 0 ENST00000344304.3:c.2603T>C p.Val868Ala p.V868A ENST00000344304 868 gTc/gCc 0 -TFEC UCSF GRCh37 7 115596785 115596785 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 129 20 117 0 ENST00000265440.7:c.330G>A p.Gly110= p.G110= ENST00000265440 NM_012252.3 110 ggG/ggA 0 -TFIP11 UCSF GRCh37 22 26892785 26892785 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 55 11 53 0 ENST00000405938.1:c.1507C>T p.Pro503Ser p.P503S ENST00000405938 NM_001008697.1 503 Ccg/Tcg 0 -TG UCSF GRCh37 8 134144132 134144132 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 22 110 0 ENST00000220616.4:c.7939G>A p.Glu2647Lys p.E2647K ENST00000220616 NM_003235.4 2647 Gag/Aag 0 -TGFB2 UCSF GRCh37 1 218609363 218609363 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 12 67 0 ENST00000366930.4:c.806C>T p.Ser269Phe p.S269F ENST00000366930 NM_003238.3 269 tCc/tTc 0 -TGIF1 UCSF GRCh37 18 3456459 3456459 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 133 25 81 0 ENST00000330513.5:c.511C>T p.Leu171= p.L171= ENST00000330513 NM_170695.3 171 Cta/Tta 0 -TGM2 UCSF GRCh37 20 36766720 36766720 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 31 34 0 ENST00000361475.2:c.1410G>A p.Glu470= p.E470= ENST00000361475 NM_004613.2 470 gaG/gaA 0 -TGM7 UCSF GRCh37 15 43584920 43584920 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 50 114 0 ENST00000452443.2:c.426C>T p.Asn142= p.N142= ENST00000452443 NM_052955.2 142 aaC/aaT 0 -THSD7A UCSF GRCh37 7 11676112 11676112 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 23 39 0 ENST00000423059.4:c.667G>A p.Ala223Thr p.A223T ENST00000423059 NM_015204.2 223 Gcg/Acg 0 -THYN1 UCSF GRCh37 11 134118731 134118731 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 24 65 0 ENST00000341541.3:c.603G>A p.Gln201= p.Q201= ENST00000341541 NM_014174.2 201 caG/caA 0 -TIGD2 UCSF GRCh37 4 90034848 90034848 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 96 22 61 0 ENST00000317005.2:c.723C>T p.Asp241= p.D241= ENST00000317005 NM_145715.2 241 gaC/gaT 0 -TIMELESS UCSF GRCh37 12 56827356 56827357 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 0 ENST00000553532.1:c.332dup p.Leu111PhefsTer17 p.L111Ffs*17 ENST00000553532 111 ttg/tTtg 0 -TIPARP UCSF GRCh37 3 156421390 156421390 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 5 40 85 0 ENST00000295924.7:c.1425G>A p.Arg475= p.R475= ENST00000295924 NM_015508.4 475 cgG/cgA 0 -TLN2 UCSF GRCh37 15 63076025 63076025 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 4 32 0 ENST00000306829.6:c.5672C>T p.Thr1891Ile p.T1891I ENST00000306829 NM_015059.2 1891 aCc/aTc 0 -TLR1 UCSF GRCh37 4 38799895 38799895 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 26 76 0 ENST00000308979.2:c.558C>T p.Asp186= p.D186= ENST00000308979 NM_003263.3 186 gaC/gaT 0 -TM7SF3 UCSF GRCh37 12 27128458 27128458 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 34 100 0 ENST00000343028.4:c.1421C>T p.Ala474Val p.A474V ENST00000343028 NM_016551.2 474 gCt/gTt 0 -TMC3 UCSF GRCh37 15 81648787 81648787 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 4 18 0 ENST00000359440.5:c.891+1G>A p.X297_splice ENST00000359440 NM_001080532.1 0 -TMC3 UCSF GRCh37 15 81633784 81633784 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 23 52 0 ENST00000359440.5:c.1791C>T p.Ser597= p.S597= ENST00000359440 NM_001080532.1 597 agC/agT 0 -TMEFF2 UCSF GRCh37 2 193059093 193059093 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 28 39 0 ENST00000272771.5:c.158G>A p.Gly53Asp p.G53D ENST00000272771 NM_016192.2 53 gGc/gAc 0 -TMEM106A UCSF GRCh37 17 41368603 41368603 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 52 77 0 ENST00000588659.1:c.565G>A p.Glu189Lys p.E189K ENST00000588659 189 Gaa/Aaa 0 -TMEM108 UCSF GRCh37 3 133114716 133114716 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 12 32 0 ENST00000321871.6:c.1614C>T p.Leu538= p.L538= ENST00000321871 NM_001136469.1 538 ctC/ctT 0 -TMEM132E UCSF GRCh37 17 32964821 32964821 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 7 18 0 ENST00000321639.5:c.2525C>T p.Ser842Phe p.S842F ENST00000321639 NM_207313.1 842 tCt/tTt 0 -TMEM173 UCSF GRCh37 5 138857072 138857072 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 5 29 0 ENST00000330794.4:c.788C>T p.Thr263Ile p.T263I ENST00000330794 NM_198282.2 263 aCc/aTc 0 -TMEM188 UCSF GRCh37 16 50063641 50063641 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 7 58 0 ENST00000427478.2:c.103C>T p.Leu35Phe p.L35F ENST00000427478 NM_001281789.1 35 Ctt/Ttt 0 -TMEM196 UCSF GRCh37 7 19765226 19765226 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 27 54 0 ENST00000405764.3:c.370C>T p.Leu124Phe p.L124F ENST00000405764 NM_152774.3 124 Ctc/Ttc 0 -TMEM202 UCSF GRCh37 15 72699426 72699426 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 13 28 0 ENST00000341689.3:c.488-1G>A p.X163_splice ENST00000341689 NM_001080462.1 0 -TMEM214 UCSF GRCh37 2 27263055 27263055 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 5 48 0 ENST00000238788.9:c.1780C>T p.Leu594Phe p.L594F ENST00000238788 NM_017727.4 594 Ctc/Ttc 0 -TMEM22 UCSF GRCh37 3 136573939 136573939 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 56 94 0 ENST00000393079.3:c.637C>T p.Leu213Phe p.L213F ENST00000393079 NM_001097600.1 213 Ctc/Ttc 0 -TMEM26 UCSF GRCh37 10 63195995 63195995 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 8 33 0 ENST00000399298.3:c.203C>T p.Ala68Val p.A68V ENST00000399298 NM_178505.6 68 gCc/gTc 0 -TMEM40 UCSF GRCh37 3 12791328 12791328 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 23 35 0 ENST00000264728.8:c.4G>A p.Glu2Lys p.E2K ENST00000264728 2 Gag/Aag 0 -TMEM45A UCSF GRCh37 3 100277310 100277310 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 44 82 0 ENST00000323523.4:c.465G>A p.Leu155= p.L155= ENST00000323523 NM_018004.1 155 ctG/ctA 0 -TMEM59 UCSF GRCh37 1 54502382 54502382 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 11 85 0 ENST00000234831.5:c.717G>A p.Gly239= p.G239= ENST00000234831 NM_004872.3 239 ggG/ggA 0 -TMEM72 UCSF GRCh37 10 45430347 45430347 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 40 74 0 ENST00000389583.4:c.593C>T p.Ala198Val p.A198V ENST00000389583 NM_001123376.1 198 gCc/gTc 0 -TMPRSS11E UCSF GRCh37 4 69362515 69362515 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 163 34 226 0 ENST00000305363.4:c.1265G>A p.Gly422Asp p.G422D ENST00000305363 NM_014058.3 422 gGt/gAt 0 -TMPRSS6 UCSF GRCh37 22 37462896 37462896 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 10 17 0 ENST00000346753.3:c.2247C>T p.Gly749= p.G749= ENST00000346753 NM_153609.2 749 ggC/ggT 0 -TMPRSS7 UCSF GRCh37 3 111793177 111793177 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 17 107 0 ENST00000452346.2:c.1701C>T p.Gly567= p.G567= ENST00000452346 567 ggC/ggT 0 -TNC UCSF GRCh37 9 117853202 117853202 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.00296 P01_Rec Untested WXS Illumina HiSeq 49 20 47 0 ENST00000350763.4:c.96G>A p.Lys32= p.K32= ENST00000350763 NM_002160.3 32 aaG/aaA 0 -TNFRSF13C UCSF GRCh37 22 42321421 42321421 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 12 10 0 ENST00000291232.3:c.505G>A p.Gly169Ser p.G169S ENST00000291232 NM_052945.3 169 Ggc/Agc 0 -TNFRSF14 UCSF GRCh37 1 2493248 2493248 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 22 39 0 ENST00000355716.4:c.688C>T p.Pro230Ser p.P230S ENST00000355716 NM_003820.2 230 Cca/Tca 0 -TNFRSF8 UCSF GRCh37 1 12186062 12186062 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 6 26 0 ENST00000263932.2:c.1208C>T p.Ala403Val p.A403V ENST00000263932 NM_001243.3 403 gCc/gTc 0 -TNIK UCSF GRCh37 3 170784468 170784468 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 8 55 0 ENST00000436636.2:c.3756G>A p.Met1252Ile p.M1252I ENST00000436636 NM_015028.2 1252 atG/atA 0 -TNRC18 UCSF GRCh37 7 5399192 5399192 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 49 76 0 ENST00000430969.1:c.4670G>A p.Ser1557Asn p.S1557N ENST00000430969 NM_001080495.2 1557 aGc/aAc 0 -TNS1 UCSF GRCh37 2 218712366 218712366 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 27 27 0 ENST00000171887.4:c.2499G>A p.Gln833= p.Q833= ENST00000171887 NM_022648.4 833 caG/caA 0 -TNS4 UCSF GRCh37 17 38633947 38633947 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 8 23 0 ENST00000254051.6:c.2041C>T p.Pro681Ser p.P681S ENST00000254051 NM_032865.5 681 Cct/Tct 0 -TOM1 UCSF GRCh37 22 35742963 35742963 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 12 27 0 ENST00000449058.2:c.1324+1G>A p.X442_splice ENST00000449058 NM_005488.2 0 -TOM1L1 UCSF GRCh37 17 53016303 53016303 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 9 45 0 ENST00000575882.1:c.1052C>T p.Ser351Phe p.S351F ENST00000575882 NM_005486.2 351 tCt/tTt 0 -TOP2A UCSF GRCh37 17 38572281 38572281 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 84 10 93 0 ENST00000423485.1:c.308C>T p.Ser103Phe p.S103F ENST00000423485 NM_001067.3 103 tCt/tTt 0 -TOX UCSF GRCh37 8 59720800 59720800 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 15 67 0 ENST00000361421.1:c.1421C>T p.Thr474Ile p.T474I ENST00000361421 NM_014729.2 474 aCt/aTt 0 -TP53 UCSF GRCh37 17 7578527 7578527 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 8 8 15 0 ENST00000269305.4:c.403T>C p.Cys135Arg p.C135R ENST00000269305 NM_001126112.2 135 Tgc/Cgc 0 -TP53 UCSF GRCh37 17 7579310 7579310 + splice_donor_variant Splice_Site SNP A A C NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 17 19 55 0 ENST00000269305.4:c.375+2T>G p.X125_splice ENST00000269305 NM_001126112.2 0 -TP53I13 UCSF GRCh37 17 27898710 27898710 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 65 8 29 0 ENST00000301057.7:c.285C>T p.Thr95= p.T95= ENST00000301057 NM_138349.2 95 acC/acT 0 -TPCN2 UCSF GRCh37 11 68840147 68840147 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 4 13 0 ENST00000294309.3:c.1114G>A p.Asp372Asn p.D372N ENST00000294309 NM_139075.3 372 Gac/Aac 0 -TPPP2 UCSF GRCh37 14 21498789 21498789 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 6 13 0 ENST00000321760.6:c.49G>A p.Glu17Lys p.E17K ENST00000321760 NM_173846.4 17 Gaa/Aaa 0 -TPR UCSF GRCh37 1 186310473 186310473 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 46 79 0 ENST00000367478.4:c.3799G>A p.Glu1267Lys p.E1267K ENST00000367478 NM_003292.2 1267 Gaa/Aaa 0 -TPRG1L UCSF GRCh37 1 3542308 3542308 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 18 22 0 ENST00000378344.2:c.325C>T p.Leu109= p.L109= ENST00000378344 NM_182752.3 109 Ctg/Ttg 0 -TPX2 UCSF GRCh37 20 30366771 30366771 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 14 77 0 ENST00000300403.6:c.1038C>T p.Ser346= p.S346= ENST00000300403 NM_012112.4 346 agC/agT 0 -TRAF1 UCSF GRCh37 9 123675816 123675816 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 6 15 0 ENST00000373887.3:c.495C>T p.Tyr165= p.Y165= ENST00000373887 NM_005658.4 165 taC/taT 0 -TRAF3 UCSF GRCh37 14 103355934 103355934 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 29 94 0 ENST00000392745.2:c.689G>A p.Ser230Asn p.S230N ENST00000392745 230 aGc/aAc 0 -TRAF3IP1 UCSF GRCh37 2 239234489 239234489 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 31 93 0 ENST00000373327.4:c.232G>A p.Asp78Asn p.D78N ENST00000373327 NM_015650.3 78 Gac/Aac 0 -TRAF3IP1 UCSF GRCh37 2 239234494 239234494 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 34 87 0 ENST00000373327.4:c.237G>A p.Val79= p.V79= ENST00000373327 NM_015650.3 79 gtG/gtA 0 -TRAF7 UCSF GRCh37 16 2223935 2223935 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 20 34 0 ENST00000326181.6:c.1149G>A p.Gln383= p.Q383= ENST00000326181 NM_032271.2 383 caG/caA 0 -TRANK1 UCSF GRCh37 3 36897308 36897308 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 28 132 0 ENST00000429976.2:c.3773G>A p.Ser1258Asn p.S1258N ENST00000429976 1258 aGt/aAt 0 -TRANK1 UCSF GRCh37 3 36902590 36902590 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 16 103 0 ENST00000429976.2:c.1170C>T p.Phe390= p.F390= ENST00000429976 390 ttC/ttT 0 -TRAPPC10 UCSF GRCh37 21 45522744 45522744 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 19 29 0 ENST00000291574.4:c.3432G>A p.Arg1144= p.R1144= ENST00000291574 NM_003274.4 1144 agG/agA 0 -TRIB3 UCSF GRCh37 20 368870 368870 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 4 15 0 ENST00000217233.3:c.216C>T p.Val72= p.V72= ENST00000217233 NM_021158.3 72 gtC/gtT 0 -TRIM10 UCSF GRCh37 6 30122090 30122090 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 8 18 0 ENST00000449742.2:c.1102G>A p.Val368Met p.V368M ENST00000449742 NM_006778.3 368 Gtg/Atg 0 -TRIM33 UCSF GRCh37 1 114967346 114967346 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 35 24 59 0 ENST00000358465.2:c.1727A>G p.Gln576Arg p.Q576R ENST00000358465 NM_015906.3 576 cAa/cGa 0 -TRIM45 UCSF GRCh37 1 117663497 117663497 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 7 35 0 ENST00000256649.4:c.327G>A p.Lys109= p.K109= ENST00000256649 NM_025188.3 109 aaG/aaA 0 -TRIO UCSF GRCh37 5 14369561 14369561 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 20 22 0 ENST00000344204.4:c.3145C>T p.Pro1049Ser p.P1049S ENST00000344204 NM_007118.2 1049 Cca/Tca 0 -TRIO UCSF GRCh37 5 14368959 14368959 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 13 59 0 ENST00000344204.4:c.3017G>A p.Arg1006His p.R1006H ENST00000344204 NM_007118.2 1006 cGc/cAc 0 -TRIO UCSF GRCh37 5 14359496 14359496 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 19 40 0 ENST00000344204.4:c.2247C>T p.Pro749= p.P749= ENST00000344204 NM_007118.2 749 ccC/ccT 0 -TRMT1L UCSF GRCh37 1 185108515 185108515 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 8 36 0 ENST00000367506.5:c.1306G>A p.Val436Ile p.V436I ENST00000367506 NM_001202423.1 436 Gta/Ata 0 -TRPC4AP UCSF GRCh37 20 33637770 33637770 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 19 77 0 ENST00000252015.2:c.556G>A p.Glu186Lys p.E186K ENST00000252015 186 Gaa/Aaa 0 -TRPM2 UCSF GRCh37 21 45798961 45798961 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 7 22 0 ENST00000300482.5:c.1096G>A p.Val366Met p.V366M ENST00000300482 366 Gtg/Atg 0 -TRPM7 UCSF GRCh37 15 50935715 50935715 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 40 94 0 ENST00000313478.7:c.357C>T p.Val119= p.V119= ENST00000313478 NM_017672.4 119 gtC/gtT 0 -TRPS1 UCSF GRCh37 8 116430604 116430604 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 112 17 94 0 ENST00000220888.5:c.2738G>A p.Gly913Asp p.G913D ENST00000220888 913 gGc/gAc 0 -TRPV3 UCSF GRCh37 17 3427628 3427628 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 55 30 42 0 ENST00000576742.1:c.1607C>T p.Ser536Phe p.S536F ENST00000576742 NM_145068.3 536 tCt/tTt 0 -TRRAP UCSF GRCh37 7 98529278 98529278 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 8 51 0 ENST00000359863.4:c.3842C>T p.Pro1281Leu p.P1281L ENST00000359863 NM_001244580.1 1281 cCc/cTc 0 -TRRAP UCSF GRCh37 7 98567904 98567904 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 15 13 0 ENST00000359863.4:c.7661C>T p.Ser2554Phe p.S2554F ENST00000359863 NM_001244580.1 2554 tCc/tTc 0 -TSHR UCSF GRCh37 14 81610572 81610572 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 53 116 0 ENST00000541158.2:c.2170G>A p.Val724Ile p.V724I ENST00000541158 724 Gtt/Att 0 -TSHZ2 UCSF GRCh37 20 51870400 51870400 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 34 49 0 ENST00000371497.5:c.403G>A p.Asp135Asn p.D135N ENST00000371497 NM_173485.5 135 Gat/Aat 0 -TSPAN10 UCSF GRCh37 17 79612115 79612115 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 6 25 0 ENST00000328585.4:c.134G>A p.Cys45Tyr p.C45Y ENST00000328585 NM_031945.3 45 tGc/tAc 0 -TSPY8 UCSF GRCh37 Y 9196995 9196995 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 78 12 77 0 ENST00000287721.9:c.708G>A p.Glu236= p.E236= ENST00000287721 NM_001243721.1 236 gaG/gaA 0 -TSSK1B UCSF GRCh37 5 112769861 112769861 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 8 41 0 ENST00000390666.3:c.676C>T p.Arg226Cys p.R226C ENST00000390666 NM_032028.3 226 Cgt/Tgt 0 -TSTA3 UCSF GRCh37 8 144698315 144698315 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 29 54 0 ENST00000425753.2:c.222G>A p.Gly74= p.G74= ENST00000425753 NM_003313.3 74 ggG/ggA 0 -TTC25 UCSF GRCh37 17 40117175 40117175 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 13 31 0 ENST00000377540.1:n.1078G>A *360* ENST00000377540 0 -TTC28 UCSF GRCh37 22 28559236 28559236 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 38 61 0 ENST00000397906.2:c.1285G>A p.Glu429Lys p.E429K ENST00000397906 NM_001145418.1 429 Gag/Aag 0 -TTLL4 UCSF GRCh37 2 219610436 219610436 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 5 9 0 ENST00000258398.4:c.1809G>A p.Gln603= p.Q603= ENST00000258398 603 caG/caA 0 -TTLL9 UCSF GRCh37 20 30526972 30526972 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 11 24 0 ENST00000375938.4:c.1146G>A p.Gly382= p.G382= ENST00000375938 382 ggG/ggA 0 -TTN UCSF GRCh37 2 179394972 179394972 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 143 23 146 0 ENST00000591111.1:c.101447G>A p.Gly33816Glu p.G33816E ENST00000591111 33816 gGa/gAa 0 -TTN UCSF GRCh37 2 179456088 179456088 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 195 33 171 0 ENST00000591111.1:c.55441G>A p.Asp18481Asn p.D18481N ENST00000591111 18481 Gat/Aat 0 -TTN UCSF GRCh37 2 179483047 179483047 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 125 84 182 0 ENST00000591111.1:c.42215G>A p.Ser14072Asn p.S14072N ENST00000591111 14072 aGt/aAt 0 -TTN UCSF GRCh37 2 179426824 179426824 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 180 21 158 0 ENST00000591111.1:c.79112C>T p.Ser26371Phe p.S26371F ENST00000591111 26371 tCt/tTt 0 -TTN UCSF GRCh37 2 179500785 179500785 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 78 53 108 0 ENST00000591111.1:c.36590C>T p.Thr12197Ile p.T12197I ENST00000591111 12197 aCc/aTc 0 -TTN UCSF GRCh37 2 179411986 179411986 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 131 31 122 0 ENST00000591111.1:c.89343C>T p.Ala29781= p.A29781= ENST00000591111 29781 gcC/gcT 0 -TUB UCSF GRCh37 11 8123085 8123085 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 3 31 0 ENST00000299506.2:c.1440G>A p.Met480Ile p.M480I ENST00000299506 NM_177972.2 480 atG/atA 0 -TUBAL3 UCSF GRCh37 10 5436047 5436047 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 40 47 0 ENST00000380419.3:c.774C>T p.Asp258= p.D258= ENST00000380419 NM_024803.2 258 gaC/gaT 0 -TUBGCP2 UCSF GRCh37 10 135102493 135102493 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 26 44 0 ENST00000252936.3:c.1392C>T p.Gly464= p.G464= ENST00000252936 464 ggC/ggT 0 -TUBGCP3 UCSF GRCh37 13 113201934 113201934 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 13 50 0 ENST00000261965.3:c.1168G>A p.Gly390Arg p.G390R ENST00000261965 NM_006322.4 390 Gga/Aga 0 -TULP1 UCSF GRCh37 6 35480615 35480615 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 4 16 0 ENST00000229771.6:c.21C>T p.Thr7= p.T7= ENST00000229771 NM_003322.3 7 acC/acT 0 -TYW1B UCSF GRCh37 7 72277868 72277868 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 27 50 0 ENST00000438904.2:c.514G>A p.Val172Ile p.V172I ENST00000438904 172 Gtt/Att 0 -UBA6 UCSF GRCh37 4 68492153 68492153 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 13 96 0 ENST00000322244.5:c.2443C>T p.Pro815Ser p.P815S ENST00000322244 NM_018227.5 815 Cct/Tct 0 -UBA6 UCSF GRCh37 4 68547836 68547836 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 9 54 0 ENST00000322244.5:c.229+1G>A p.X77_splice ENST00000322244 NM_018227.5 0 -UBASH3B UCSF GRCh37 11 122680560 122680560 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 35 62 0 ENST00000284273.5:c.1916G>A p.Gly639Asp p.G639D ENST00000284273 NM_032873.4 639 gGc/gAc 0 -UBE2Q2 UCSF GRCh37 15 76183356 76183356 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 80 14 104 0 ENST00000267938.4:c.1029+1G>A p.X343_splice ENST00000267938 NM_173469.2 0 -UBFD1 UCSF GRCh37 16 23569458 23569458 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 7 14 0 ENST00000395878.3:c.213C>T p.Val71= p.V71= ENST00000395878 NM_019116.2 71 gtC/gtT 0 -UBOX5 UCSF GRCh37 20 3102359 3102359 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 8 16 0 ENST00000217173.2:c.926G>A p.Gly309Glu p.G309E ENST00000217173 NM_001267584.1 309 gGg/gAg 0 -UBR2 UCSF GRCh37 6 42626058 42626058 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 28 102 0 ENST00000372899.1:c.3063G>A p.Glu1021= p.E1021= ENST00000372899 NM_015255.2 1021 gaG/gaA 0 -UBR4 UCSF GRCh37 1 19453006 19453006 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 17 77 0 ENST00000375254.3:c.9372G>A p.Leu3124= p.L3124= ENST00000375254 NM_020765.2 3124 ttG/ttA 0 -UBR4 UCSF GRCh37 1 19411132 19411132 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 19 29 0 ENST00000375254.3:c.14874C>T p.Ile4958= p.I4958= ENST00000375254 NM_020765.2 4958 atC/atT 0 -UCK1 UCSF GRCh37 9 134400576 134400576 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 14 26 0 ENST00000372215.4:c.685G>A p.Asp229Asn p.D229N ENST00000372215 NM_031432.2 229 Gac/Aac 0 -UCMA UCSF GRCh37 10 13264130 13264130 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 7 21 0 ENST00000378681.3:c.390C>T p.Ser130= p.S130= ENST00000378681 NM_145314.1 130 tcC/tcT 0 -UFD1L UCSF GRCh37 22 19455456 19455456 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 40 81 0 ENST00000263202.10:c.362C>T p.Thr121Ile p.T121I ENST00000263202 NM_005659.6 121 aCc/aTc 0 -UGGT1 UCSF GRCh37 2 128931358 128931358 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 22 51 0 ENST00000259253.6:c.3298G>A p.Asp1100Asn p.D1100N ENST00000259253 NM_020120.3 1100 Gac/Aac 0 -UGT2B4 UCSF GRCh37 4 70352375 70352375 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 119 28 157 0 ENST00000305107.6:c.1042G>A p.Gly348Arg p.G348R ENST00000305107 NM_021139.2 348 Gga/Aga 0 -ULK2 UCSF GRCh37 17 19687113 19687113 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 5 49 0 ENST00000361658.2:c.2357C>T p.Ala786Val p.A786V ENST00000361658 NM_001142610.1 786 gCa/gTa 0 -UNC13B UCSF GRCh37 9 35399159 35399159 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 15 44 0 ENST00000378495.3:c.3829C>T p.Leu1277Phe p.L1277F ENST00000378495 NM_006377.3 1277 Ctc/Ttc 0 -UNC13C UCSF GRCh37 15 54860025 54860025 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 104 18 139 0 ENST00000260323.11:c.5986C>T p.Leu1996= p.L1996= ENST00000260323 NM_001080534.1 1996 Ctg/Ttg 0 -UNC45A UCSF GRCh37 15 91491966 91491966 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 4 9 0 ENST00000418476.2:c.1820C>T p.Pro607Leu p.P607L ENST00000418476 NM_018671.3 607 cCc/cTc 0 -UNC45A UCSF GRCh37 15 91488139 91488139 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 28 67 0 ENST00000418476.2:c.1045G>A p.Glu349Lys p.E349K ENST00000418476 NM_018671.3 349 Gaa/Aaa 0 -UNC80 UCSF GRCh37 2 210704070 210704070 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 53 15 52 0 ENST00000439458.1:c.3166G>A p.Ala1056Thr p.A1056T ENST00000439458 NM_032504.1 1056 Gcc/Acc 0 -UNC80 UCSF GRCh37 2 210834555 210834555 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 11 44 0 ENST00000439458.1:c.7872G>A p.Arg2624= p.R2624= ENST00000439458 NM_032504.1 2624 agG/agA 0 -UNC93A UCSF GRCh37 6 167711551 167711551 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 39 7 29 0 ENST00000230256.3:c.618C>T p.Ile206= p.I206= ENST00000230256 NM_018974.3 206 atC/atT 0 -UNC93B1 UCSF GRCh37 11 67765232 67765232 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 3 15 0 ENST00000227471.2:c.819G>A p.Lys273= p.K273= ENST00000227471 NM_030930.2 273 aaG/aaA 0 -UNK UCSF GRCh37 17 73816087 73816087 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 26 29 0 ENST00000589666.1:c.1735C>T p.Pro579Ser p.P579S ENST00000589666 NM_001080419.2 579 Cct/Tct 0 -UNKL UCSF GRCh37 16 1442949 1442949 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 6 10 12 0 ENST00000389221.4:c.957C>T p.Gly319= p.G319= ENST00000389221 NM_001193388.3 319 ggC/ggT 0 -UPK1B UCSF GRCh37 3 118913220 118913220 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 35 78 0 ENST00000264234.3:c.623G>A p.Gly208Asp p.G208D ENST00000264234 NM_006952.3 208 gGc/gAc 0 -URB1 UCSF GRCh37 21 33756656 33756656 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 85 47 108 0 ENST00000382751.3:c.400C>T p.Leu134Phe p.L134F ENST00000382751 NM_014825.2 134 Ctc/Ttc 0 -USH1C UCSF GRCh37 11 17517140 17517140 + intron_variant Intron SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 39 10 37 0 ENST00000318024.4:c.1646+1165G>A *549* ENST00000318024 NM_005709.3 0 -USH2A UCSF GRCh37 1 216011434 216011434 + synonymous_variant Silent SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 49 43 90 0 ENST00000307340.3:c.9270C>T p.Cys3090= p.C3090= ENST00000307340 NM_206933.2 3090 tgC/tgT 0 -USH2A UCSF GRCh37 1 215848193 215848193 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 19 32 0 ENST00000307340.3:c.13060G>A p.Ala4354Thr p.A4354T ENST00000307340 NM_206933.2 4354 Gct/Act 0 -USH2A UCSF GRCh37 1 216262370 216262370 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 37 131 0 ENST00000307340.3:c.4870G>A p.Asp1624Asn p.D1624N ENST00000307340 NM_206933.2 1624 Gat/Aat 0 -USHBP1 UCSF GRCh37 19 17362429 17362429 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 16 33 0 ENST00000252597.3:c.1884G>A p.Gln628= p.Q628= ENST00000252597 NM_031941.3 628 caG/caA 0 -USP16 UCSF GRCh37 21 30411418 30411418 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 32 48 0 ENST00000334352.4:c.804G>A p.Met268Ile p.M268I ENST00000334352 NM_001032410.1 268 atG/atA 0 -USP17L2 UCSF GRCh37 8 11995414 11995414 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 184 27 175 0 ENST00000333796.3:c.856G>A p.Val286Ile p.V286I ENST00000333796 NM_201402.2 286 Gtc/Atc 0 -USP24 UCSF GRCh37 1 55604643 55604643 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 9 74 0 ENST00000294383.6:c.2791G>A p.Ala931Thr p.A931T ENST00000294383 NM_015306.2 931 Gca/Aca 0 -USP31 UCSF GRCh37 16 23080422 23080422 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 60 12 62 0 ENST00000219689.7:c.3004C>T p.Pro1002Ser p.P1002S ENST00000219689 NM_020718.3 1002 Cca/Tca 0 -USP33 UCSF GRCh37 1 78194332 78194332 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 44 69 0 ENST00000357428.1:c.876G>A p.Met292Ile p.M292I ENST00000357428 292 atG/atA 0 -USP33 UCSF GRCh37 1 78167082 78167082 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 96 45 86 0 ENST00000357428.1:c.2574G>A p.Trp858Ter p.W858* ENST00000357428 858 tgG/tgA 0 -USP34 UCSF GRCh37 2 61441210 61441210 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 21 51 0 ENST00000398571.2:c.8667C>T p.Ala2889= p.A2889= ENST00000398571 NM_014709.3 2889 gcC/gcT 0 -USP34 UCSF GRCh37 2 61447539 61447539 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 60 106 0 ENST00000398571.2:c.7953C>T p.Pro2651= p.P2651= ENST00000398571 NM_014709.3 2651 ccC/ccT 0 -USP37 UCSF GRCh37 2 219360568 219360568 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 73 17 107 0 ENST00000258399.3:c.1387C>T p.Pro463Ser p.P463S ENST00000258399 NM_020935.2 463 Cca/Tca 0 -USP37 UCSF GRCh37 2 219353081 219353081 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 50 106 0 ENST00000258399.3:c.1536G>A p.Arg512= p.R512= ENST00000258399 NM_020935.2 512 agG/agA 0 -USP40 UCSF GRCh37 2 234429752 234429752 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 51 87 0 ENST00000251722.6:c.2207C>T p.Thr736Ile p.T736I ENST00000251722 736 aCc/aTc 0 -USP42 UCSF GRCh37 7 6155129 6155129 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 116 18 97 0 ENST00000306177.5:c.417G>A p.Met139Ile p.M139I ENST00000306177 NM_032172.2 139 atG/atA 0 -USP7 UCSF GRCh37 16 9002227 9002227 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 14 67 0 ENST00000344836.4:c.1242G>A p.Gln414= p.Q414= ENST00000344836 NM_003470.2 414 caG/caA 0 -VAC14 UCSF GRCh37 16 70806067 70806067 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 3 32 0 ENST00000261776.5:c.1105G>A p.Asp369Asn p.D369N ENST00000261776 NM_018052.3 369 Gat/Aat 0 -VAV2 UCSF GRCh37 9 136637120 136637120 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 23 44 0 ENST00000371850.3:c.2184G>A p.Trp728Ter p.W728* ENST00000371850 NM_001134398.1 728 tgG/tgA 0 -VCAN UCSF GRCh37 5 82837070 82837070 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 24 76 0 ENST00000265077.3:c.8248G>A p.Glu2750Lys p.E2750K ENST00000265077 NM_004385.4 2750 Gag/Aag 0 -VCAN UCSF GRCh37 5 82815919 82815919 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 69 57 107 0 ENST00000265077.3:c.1794G>A p.Glu598= p.E598= ENST00000265077 NM_004385.4 598 gaG/gaA 0 -VIL1 UCSF GRCh37 2 219294323 219294323 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 7 22 0 ENST00000248444.5:c.774G>A p.Val258= p.V258= ENST00000248444 NM_007127.2 258 gtG/gtA 0 -VPRBP UCSF GRCh37 3 51466911 51466911 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 38 124 0 ENST00000423656.1:c.192G>A p.Leu64= p.L64= ENST00000423656 64 ttG/ttA 0 -VPS13D UCSF GRCh37 1 12336545 12336545 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 77 17 61 0 ENST00000358136.3:c.2900G>A p.Gly967Asp p.G967D ENST00000358136 NM_015378.2 967 gGt/gAt 0 -VPS36 UCSF GRCh37 13 53000202 53000202 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 26 73 0 ENST00000378060.4:c.640-1G>A p.X214_splice ENST00000378060 NM_016075.2 0 -VPS52 UCSF GRCh37 6 33234964 33234964 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 17 27 0 ENST00000445902.2:c.1125+1G>A p.X375_splice ENST00000445902 NM_022553.4 0 -VPS53 UCSF GRCh37 17 556631 556631 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 89 21 94 0 ENST00000571805.1:c.508C>T p.Gln170Ter p.Q170* ENST00000571805 170 Caa/Taa 0 -VSTM2A UCSF GRCh37 7 54617556 54617556 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 82 13 90 0 ENST00000407838.3:c.327C>T p.Ser109= p.S109= ENST00000407838 NM_182546.2 109 tcC/tcT 0 -VSX2 UCSF GRCh37 14 74726340 74726340 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 8 29 0 ENST00000261980.2:c.615G>A p.Lys205= p.K205= ENST00000261980 NM_182894.2 205 aaG/aaA 0 -VTCN1 UCSF GRCh37 1 117690383 117690383 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 25 83 0 ENST00000369458.3:c.746G>A p.Ser249Asn p.S249N ENST00000369458 NM_024626.3 249 aGt/aAt 0 -VWA3A UCSF GRCh37 16 22137503 22137503 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 123 63 99 0 ENST00000389398.5:c.1537G>A p.Val513Ile p.V513I ENST00000389398 NM_173615.3 513 Gtt/Att 0 -WARS2 UCSF GRCh37 1 119584944 119584944 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 10 39 0 ENST00000235521.4:c.458G>A p.Gly153Asp p.G153D ENST00000235521 NM_201263.2 153 gGc/gAc 0 -WDFY3 UCSF GRCh37 4 85707170 85707170 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 41 123 0 ENST00000295888.4:c.4024G>A p.Val1342Met p.V1342M ENST00000295888 NM_014991.4 1342 Gtg/Atg 0 -WDFY4 UCSF GRCh37 10 49951403 49951403 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 11 10 0 ENST00000325239.5:c.2269C>T p.Pro757Ser p.P757S ENST00000325239 NM_020945.1 757 Cca/Tca 0 -WDR1 UCSF GRCh37 4 10100664 10100664 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 15 24 0 ENST00000382452.2:c.329G>A p.Trp110Ter p.W110* ENST00000382452 NM_017491.3 110 tGg/tAg 0 -WDR19 UCSF GRCh37 4 39207193 39207193 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 122 20 103 0 ENST00000399820.3:c.727G>A p.Gly243Ser p.G243S ENST00000399820 NM_025132.3 243 Ggc/Agc 0 -WDR19 UCSF GRCh37 4 39236403 39236403 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 106 16 98 0 ENST00000399820.3:c.2271G>A p.Gln757= p.Q757= ENST00000399820 NM_025132.3 757 caG/caA 0 -WDR3 UCSF GRCh37 1 118492674 118492674 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 79 64 129 0 ENST00000349139.5:c.1667G>A p.Ser556Asn p.S556N ENST00000349139 NM_006784.2 556 aGt/aAt 0 -WDR5 UCSF GRCh37 9 137005076 137005076 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 7 30 0 ENST00000358625.3:c.77G>A p.Ser26Asn p.S26N ENST00000358625 NM_017588.2 26 aGc/aAc 0 -WDR62 UCSF GRCh37 19 36564358 36564358 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 24 13 0 ENST00000270301.7:c.1158G>A p.Trp386Ter p.W386* ENST00000270301 386 tgG/tgA 0 -WDR81 UCSF GRCh37 17 1635993 1635993 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 4 9 0 ENST00000409644.1:c.4357G>A p.Gly1453Ser p.G1453S ENST00000409644 NM_001163809.1 1453 Ggc/Agc 0 -WDR87 UCSF GRCh37 19 38377201 38377201 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 105 71 130 0 ENST00000303868.5:c.6993C>T p.Cys2331= p.C2331= ENST00000303868 NM_031951.3 2331 tgC/tgT 0 -WDR93 UCSF GRCh37 15 90258214 90258214 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 14 79 0 ENST00000268130.7:c.644C>T p.Ala215Val p.A215V ENST00000268130 NM_020212.1 215 gCc/gTc 0 -WDR93 UCSF GRCh37 15 90270407 90270407 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 24 61 0 ENST00000268130.7:c.900C>T p.Pro300= p.P300= ENST00000268130 NM_020212.1 300 ccC/ccT 0 -WFDC3 UCSF GRCh37 20 44417682 44417682 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 37 76 0 ENST00000243938.4:c.99C>T p.Cys33= p.C33= ENST00000243938 NM_080614.1 33 tgC/tgT 0 -WHSC1 UCSF GRCh37 4 1902406 1902406 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 48 77 0 ENST00000382891.5:c.25C>T p.Pro9Ser p.P9S ENST00000382891 NM_133335.3 9 Ccc/Tcc 0 -WIPF1 UCSF GRCh37 2 175432672 175432672 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 7 22 0 ENST00000359761.3:c.1259C>T p.Pro420Leu p.P420L ENST00000359761 420 cCt/cTt 0 -WIPF3 UCSF GRCh37 7 29874426 29874426 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 23 49 0 ENST00000242140.5:c.86C>T p.Pro29Leu p.P29L ENST00000242140 29 cCc/cTc 0 -WLS UCSF GRCh37 1 68619204 68619204 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 16 43 0 ENST00000262348.4:c.799G>A p.Glu267Lys p.E267K ENST00000262348 NM_024911.6 267 Gaa/Aaa 0 -WNK3 UCSF GRCh37 X 54319365 54319365 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 4 35 0 ENST00000354646.2:c.1993C>T p.Pro665Ser p.P665S ENST00000354646 NM_020922.4 665 Ccc/Tcc 0 -WNK4 UCSF GRCh37 17 40948172 40948172 + downstream_gene_variant 3'Flank SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 14 45 0 ENST00000328434 NM_001040431.2 0 -WNT2B UCSF GRCh37 1 113010181 113010181 + missense_variant Missense_Mutation SNP G G T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 4 27 1 ENST00000369686.5:c.22G>T p.Val8Leu p.V8L ENST00000369686 NM_004185.3 8 Gta/Tta 0 -WNT4 UCSF GRCh37 1 22447772 22447772 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 11 23 0 ENST00000290167.6:c.520G>A p.Glu174Lys p.E174K ENST00000290167 NM_030761.4 174 Gag/Aag 0 -WNT5A UCSF GRCh37 3 55513516 55513516 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 219 34 152 0 ENST00000264634.4:c.217G>A p.Ala73Thr p.A73T ENST00000264634 NM_003392.4 73 Gca/Aca 0 -WWC1 UCSF GRCh37 5 167798429 167798429 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 3 17 0 ENST00000265293.4:c.120G>A p.Arg40= p.R40= ENST00000265293 NM_001161662.1 40 agG/agA 0 -WWC2 UCSF GRCh37 4 184205543 184205543 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 17 38 0 ENST00000403733.3:c.3048G>A p.Arg1016= p.R1016= ENST00000403733 NM_024949.5 1016 agG/agA 0 -XAB2 UCSF GRCh37 19 7689302 7689302 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 5 16 0 ENST00000358368.4:c.852G>A p.Arg284= p.R284= ENST00000358368 NM_020196.2 284 cgG/cgA 0 -XIRP1 UCSF GRCh37 3 39229241 39229241 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 7 42 0 ENST00000340369.3:c.1696G>A p.Glu566Lys p.E566K ENST00000340369 NM_194293.2 566 Gag/Aag 0 -XPO6 UCSF GRCh37 16 28192328 28192328 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 25 61 0 ENST00000304658.5:c.28G>A p.Ala10Thr p.A10T ENST00000304658 NM_015171.3 10 Gca/Aca 0 -XPOT UCSF GRCh37 12 64813888 64813888 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 70 12 73 0 ENST00000332707.5:c.528G>A p.Arg176= p.R176= ENST00000332707 NM_007235.4 176 agG/agA 0 -XRCC2 UCSF GRCh37 7 152346419 152346419 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 65 11 82 0 ENST00000359321.1:c.151G>A p.Gly51Arg p.G51R ENST00000359321 NM_005431.1 51 Gga/Aga 0 -XRCC4 UCSF GRCh37 5 82500646 82500646 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 6 37 0 ENST00000338635.6:c.651C>T p.Ile217= p.I217= ENST00000338635 217 atC/atT 0 -YIPF1 UCSF GRCh37 1 54348887 54348887 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 32 76 0 ENST00000072644.1:c.94G>A p.Asp32Asn p.D32N ENST00000072644 NM_018982.4 32 Gat/Aat 0 -YME1L1 UCSF GRCh37 10 27406657 27406657 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 83 25 101 0 ENST00000326799.3:c.1739-1G>A p.X580_splice ENST00000326799 NM_139312.2 0 -YTHDC2 UCSF GRCh37 5 112871458 112871458 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 25 75 0 ENST00000161863.4:c.1065C>T p.Leu355= p.L355= ENST00000161863 NM_022828.3 355 ctC/ctT 0 -YTHDF2 UCSF GRCh37 1 29069935 29069935 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 19 82 0 ENST00000373812.3:c.1153C>T p.Pro385Ser p.P385S ENST00000373812 NM_016258.2 385 Ccc/Tcc 0 -ZAN UCSF GRCh37 7 100350516 100350516 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 9 33 0 ENST00000546292.1:c.2788C>T p.Pro930Ser p.P930S ENST00000546292 NM_173059.1 930 Ccc/Tcc 0 -ZBTB1 UCSF GRCh37 14 64989761 64989761 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 130 63 162 0 ENST00000554015.1:c.1539C>T p.Asp513= p.D513= ENST00000554015 513 gaC/gaT 0 -ZBTB10 UCSF GRCh37 8 81412055 81412055 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 174 35 180 0 ENST00000430430.1:c.1299C>T p.Ser433= p.S433= ENST00000430430 433 agC/agT 0 -ZC3H12A UCSF GRCh37 1 37945949 37945949 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 15 16 0 ENST00000373087.6:c.502C>T p.Leu168= p.L168= ENST00000373087 NM_025079.2 168 Ctg/Ttg 0 -ZC3H4 UCSF GRCh37 19 47588394 47588394 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 4 49 0 ENST00000253048.5:c.1026C>T p.Gly342= p.G342= ENST00000253048 NM_015168.1 342 ggC/ggT 0 -ZCCHC12 UCSF GRCh37 X 117959756 117959756 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 37 52 0 ENST00000310164.2:c.549G>A p.Glu183= p.E183= ENST00000310164 NM_173798.2 183 gaG/gaA 0 -ZCCHC6 UCSF GRCh37 9 88903610 88903610 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 6 32 0 ENST00000375963.3:c.4470G>A p.Arg1490= p.R1490= ENST00000375963 NM_001185059.1 1490 agG/agA 0 -ZDBF2 UCSF GRCh37 2 207175568 207175568 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 82 66 134 0 ENST00000374423.3:c.6316C>T p.Pro2106Ser p.P2106S ENST00000374423 NM_020923.1 2106 Cct/Tct 0 -ZFHX2 UCSF GRCh37 14 24003498 24003498 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 5 31 0 ENST00000419474.3:c.1037C>T p.Pro346Leu p.P346L ENST00000419474 NM_033400.2 346 cCc/cTc 0 -ZFHX2 UCSF GRCh37 14 24002867 24002867 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 25 61 0 ENST00000419474.3:c.1668C>T p.Pro556= p.P556= ENST00000419474 NM_033400.2 556 ccC/ccT 0 -ZFHX4 UCSF GRCh37 8 77764123 77764123 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 130 27 153 0 ENST00000521891.2:c.4966G>A p.Ala1656Thr p.A1656T ENST00000521891 NM_024721.4 1656 Gca/Aca 0 -ZFYVE16 UCSF GRCh37 5 79734594 79734594 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 18 78 0 ENST00000338008.5:c.2090C>T p.Pro697Leu p.P697L ENST00000338008 NM_014733.3 697 cCa/cTa 0 -ZFYVE16 UCSF GRCh37 5 79752881 79752881 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 12 82 0 ENST00000338008.5:c.3913G>A p.Ala1305Thr p.A1305T ENST00000338008 NM_014733.3 1305 Gcc/Acc 0 -ZFYVE28 UCSF GRCh37 4 2306889 2306889 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 8 18 0 ENST00000290974.2:c.1178G>A p.Gly393Asp p.G393D ENST00000290974 NM_020972.2 393 gGc/gAc 0 -ZFYVE28 UCSF GRCh37 4 2306375 2306375 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0012 P01_Rec Untested WXS Illumina HiSeq 5 12 8 0 ENST00000290974.2:c.1692C>T p.Cys564= p.C564= ENST00000290974 NM_020972.2 564 tgC/tgT 0 -ZIM3 UCSF GRCh37 19 57647316 57647316 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 20 123 0 ENST00000269834.1:c.389G>A p.Gly130Asp p.G130D ENST00000269834 NM_052882.1 130 gGc/gAc 0 -ZKSCAN3 UCSF GRCh37 6 28333633 28333633 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 96 39 60 0 ENST00000252211.2:c.1188G>A p.Lys396= p.K396= ENST00000252211 NM_024493.3 396 aaG/aaA 0 -ZKSCAN5 UCSF GRCh37 7 99129352 99129352 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 83 43 67 0 ENST00000326775.5:c.2000G>A p.Gly667Glu p.G667E ENST00000326775 NM_145102.2 667 gGg/gAg 0 -ZMYM4 UCSF GRCh37 1 35873697 35873697 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 89 35 82 0 ENST00000314607.6:c.3885G>A p.Arg1295= p.R1295= ENST00000314607 NM_005095.2 1295 cgG/cgA 0 -ZNF17 UCSF GRCh37 19 57932525 57932525 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 17 118 0 ENST00000601808.1:c.1665G>A p.Glu555= p.E555= ENST00000601808 NM_006959.2 555 gaG/gaA 0 -ZNF211 UCSF GRCh37 19 58152405 58152405 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 24 41 0 ENST00000347302.3:c.551C>T p.Pro184Leu p.P184L ENST00000347302 NM_198855.2 184 cCc/cTc 0 -ZNF224 UCSF GRCh37 19 44605305 44605305 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 46 78 0 ENST00000336976.6:c.162G>A p.Arg54= p.R54= ENST00000336976 NM_013398.2 54 agG/agA 0 -ZNF226 UCSF GRCh37 19 44681435 44681435 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 152 18 125 0 ENST00000337433.5:c.2020G>A p.Asp674Asn p.D674N ENST00000337433 NM_001032373.1 674 Gat/Aat 0 -ZNF25 UCSF GRCh37 10 38241328 38241328 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 87 48 116 1 ENST00000302609.7:c.1098G>A p.Gly366= p.G366= ENST00000302609 NM_145011.2 366 ggG/ggA 0 -ZNF273 UCSF GRCh37 7 64377994 64377994 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 113 95 185 0 ENST00000476120.1:c.138C>T p.Phe46= p.F46= ENST00000476120 NM_021148.2 46 ttC/ttT 0 -ZNF275 UCSF GRCh37 X 152612560 152612560 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 12 17 0 ENST00000370251.3:c.417G>A p.Arg139= p.R139= ENST00000370251 NM_001080485.3 139 agG/agA 0 -ZNF28 UCSF GRCh37 19 53302984 53302984 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 24 86 163 0 ENST00000457749.2:c.2114A>G p.Asn705Ser p.N705S ENST00000457749 NM_006969.3 705 aAc/aGc 0 -ZNF282 UCSF GRCh37 7 148910902 148910902 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 6 10 0 ENST00000262085.3:c.1176C>T p.Gly392= p.G392= ENST00000262085 NM_003575.2 392 ggC/ggT 0 -ZNF286B UCSF GRCh37 17 18565329 18565329 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 64 18 92 0 ENST00000545289.1:c.1490G>A p.Cys497Tyr p.C497Y ENST00000545289 NM_001145045.1 497 tGt/tAt 0 -ZNF292 UCSF GRCh37 6 87967271 87967271 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 44 124 0 ENST00000369577.3:c.3924C>T p.Ser1308= p.S1308= ENST00000369577 NM_015021.1 1308 tcC/tcT 0 -ZNF311 UCSF GRCh37 6 28966515 28966515 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 30 69 0 ENST00000377179.3:c.411C>T p.Tyr137= p.Y137= ENST00000377179 NM_001010877.2 137 taC/taT 0 -ZNF341 UCSF GRCh37 20 32354790 32354790 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 14 84 0 ENST00000375200.1:c.1356C>T p.Ser452= p.S452= ENST00000375200 NM_001282933.1 452 agC/agT 0 -ZNF354A UCSF GRCh37 5 178152397 178152397 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 24 68 0 ENST00000335815.2:c.236G>A p.Gly79Asp p.G79D ENST00000335815 NM_005649.2 79 gGt/gAt 0 -ZNF354C UCSF GRCh37 5 178505788 178505788 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 47 91 0 ENST00000315475.6:c.355C>T p.His119Tyr p.H119Y ENST00000315475 NM_014594.1 119 Cac/Tac 0 -ZNF385B UCSF GRCh37 2 180634269 180634269 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 4 22 0 ENST00000410066.1:c.214C>T p.Pro72Ser p.P72S ENST00000410066 NM_152520.4 72 Cca/Tca 0 -ZNF410 UCSF GRCh37 14 74376048 74376048 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 49 109 0 ENST00000555044.1:c.918G>A p.Glu306= p.E306= ENST00000555044 NM_021188.2 306 gaG/gaA 0 -ZNF425 UCSF GRCh37 7 148802315 148802315 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 23 38 0 ENST00000378061.2:c.648G>A p.Gln216= p.Q216= ENST00000378061 NM_001001661.2 216 caG/caA 0 -ZNF441 UCSF GRCh37 19 11891835 11891835 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 47 119 0 ENST00000357901.4:c.1196C>T p.Ala399Val p.A399V ENST00000357901 NM_152355.2 399 gCc/gTc 0 -ZNF451 UCSF GRCh37 6 57013222 57013222 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 12 57 0 ENST00000370706.4:c.2339G>A p.Ser780Asn p.S780N ENST00000370706 NM_001031623.2 780 aGt/aAt 0 -ZNF462 UCSF GRCh37 9 109687573 109687573 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 132 21 90 0 ENST00000277225.5:c.1380C>T p.Asn460= p.N460= ENST00000277225 460 aaC/aaT 0 -ZNF483 UCSF GRCh37 9 114304193 114304193 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 241 27 151 0 ENST00000309235.5:c.978G>A p.Arg326= p.R326= ENST00000309235 NM_133464.2 326 agG/agA 0 -ZNF493 UCSF GRCh37 19 21606767 21606767 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 57 122 0 ENST00000355504.4:c.922G>A p.Glu308Lys p.E308K ENST00000355504 NM_175910.6 308 Gaa/Aaa 0 -ZNF506 UCSF GRCh37 19 19916846 19916846 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 114 13 129 0 ENST00000443905.2:c.220C>T p.Pro74Ser p.P74S ENST00000443905 74 Ccc/Tcc 0 -ZNF507 UCSF GRCh37 19 32845510 32845510 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 22 81 0 ENST00000311921.4:c.1774G>A p.Glu592Lys p.E592K ENST00000311921 NM_014910.4 592 Gaa/Aaa 0 -ZNF518B UCSF GRCh37 4 10446731 10446731 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 129 91 188 0 ENST00000326756.3:c.1222G>A p.Val408Ile p.V408I ENST00000326756 NM_053042.2 408 Gtt/Att 0 -ZNF518B UCSF GRCh37 4 10445799 10445799 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 131 28 84 0 ENST00000326756.3:c.2154C>T p.Gly718= p.G718= ENST00000326756 NM_053042.2 718 ggC/ggT 0 -ZNF546 UCSF GRCh37 19 40520361 40520361 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 69 14 83 0 ENST00000347077.4:c.1184G>A p.Ser395Asn p.S395N ENST00000347077 NM_178544.3 395 aGt/aAt 0 -ZNF549 UCSF GRCh37 19 58049092 58049092 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 61 136 0 ENST00000376233.3:c.720C>T p.Val240= p.V240= ENST00000376233 NM_001199295.1 240 gtC/gtT 0 -ZNF555 UCSF GRCh37 19 2850645 2850645 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 80 57 97 0 ENST00000334241.4:c.64G>A p.Asp22Asn p.D22N ENST00000334241 NM_152791.4 22 Gat/Aat 0 -ZNF570 UCSF GRCh37 19 37975761 37975761 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 127 20 117 0 ENST00000330173.1:c.1237C>T p.Pro413Ser p.P413S ENST00000330173 NM_144694.1 413 Cct/Tct 0 -ZNF574 UCSF GRCh37 19 42582801 42582801 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 81 16 63 0 ENST00000359044.4:c.43C>T p.Arg15Cys p.R15C ENST00000359044 NM_022752.5 15 Cgc/Tgc 0 -ZNF598 UCSF GRCh37 16 2048796 2048796 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.086,1000g2011may_all_0.1651,snp132_rs1058474 P01_Rec Untested WXS Illumina HiSeq 9 5 8 0 ENST00000431526.1:c.2268G>A p.Arg756= p.R756= ENST00000431526 756 agG/agA 0 -ZNF609 UCSF GRCh37 15 64972457 64972457 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 13 29 0 ENST00000326648.3:c.3843G>A p.Lys1281= p.K1281= ENST00000326648 NM_015042.1 1281 aaG/aaA 0 -ZNF616 UCSF GRCh37 19 52620039 52620039 + missense_variant Missense_Mutation SNP A A C NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 11 87 150 0 ENST00000600228.1:c.378T>G p.His126Gln p.H126Q ENST00000600228 NM_178523.3 126 caT/caG 0 -ZNF638 UCSF GRCh37 2 71654398 71654398 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 68 80 138 0 ENST00000264447.4:c.5399A>G p.Asp1800Gly p.D1800G ENST00000264447 NM_001014972.2 1800 gAc/gGc 0 -ZNF645 UCSF GRCh37 X 22291335 22291335 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P01_Rec Untested WXS Illumina HiSeq 19 0 ENST00000323684.1:c.227del p.Ala76ValfsTer26 p.A76Vfs*26 ENST00000323684 NM_152577.3 76 gCt/gt 0 -ZNF646 UCSF GRCh37 16 31089358 31089358 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 18 34 0 ENST00000394979.2:c.1713G>A p.Lys571= p.K571= ENST00000394979 571 aaG/aaA 0 -ZNF658 UCSF GRCh37 9 40773337 40773337 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.145,1000g2011may_all_0.2772,snp132_rs72624049 P01_Rec Untested WXS Illumina HiSeq 142 25 195 0 ENST00000602553.1:c.1938G>A p.Lys646= p.K646= ENST00000602553 646 aaG/aaA 0 -ZNF665 UCSF GRCh37 19 53669476 53669476 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 55 120 0 ENST00000600412.1:c.72G>A p.Gln24= p.Q24= ENST00000600412 24 caG/caA 0 -ZNF671 UCSF GRCh37 19 58232498 58232498 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 54 117 0 ENST00000317398.6:c.956G>A p.Gly319Glu p.G319E ENST00000317398 NM_024833.2 319 gGg/gAg 0 -ZNF680 UCSF GRCh37 7 63981939 63981939 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 128 21 125 0 ENST00000309683.6:c.1193G>A p.Arg398Lys p.R398K ENST00000309683 NM_178558.4 398 aGa/aAa 0 -ZNF687 UCSF GRCh37 1 151259011 151259011 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 5 46 0 ENST00000324048.5:c.244G>A p.Val82Ile p.V82I ENST00000324048 82 Gtc/Atc 0 -ZNF750 UCSF GRCh37 17 80790041 80790041 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 10 87 0 ENST00000269394.3:c.290C>T p.Ala97Val p.A97V ENST00000269394 NM_024702.2 97 gCc/gTc 0 -ZNF773 UCSF GRCh37 19 58017913 58017913 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 6 56 0 ENST00000282292.4:c.450G>A p.Arg150= p.R150= ENST00000282292 NM_198542.1 150 agG/agA 0 -ZNF789 UCSF GRCh37 7 99074104 99074104 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 3 15 0 ENST00000331410.5:c.24+1G>A p.X8_splice ENST00000331410 NM_213603.2 0 -ZNF804A UCSF GRCh37 2 185800689 185800689 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 10 90 0 ENST00000302277.6:c.566G>A p.Ser189Asn p.S189N ENST00000302277 NM_194250.1 189 aGt/aAt 0 -ZNF81 UCSF GRCh37 X 47755295 47755295 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 3 11 0 ENST00000338637.7:c.233G>A p.Gly78Glu p.G78E ENST00000338637 NM_007137.3 78 gGg/gAg 0 -ZNF90 UCSF GRCh37 19 20229997 20229997 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 102 49 114 0 ENST00000418063.2:c.1634C>T p.Ala545Val p.A545V ENST00000418063 NM_007138.1 545 gCc/gTc 0 -ZNF90 UCSF GRCh37 19 20228589 20228589 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 59 32 117 0 ENST00000418063.2:c.227-1G>A p.X76_splice ENST00000418063 NM_007138.1 0 -ZNFX1 UCSF GRCh37 20 47865631 47865631 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 56 7 45 0 ENST00000371752.1:c.3930C>T p.Asp1310= p.D1310= ENST00000371752 1310 gaC/gaT 0 -ZNRF3 UCSF GRCh37 22 29446120 29446120 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 15 24 0 ENST00000544604.2:c.1951G>A p.Ala651Thr p.A651T ENST00000544604 NM_001206998.1 651 Gcc/Acc 0 -ZNRF4 UCSF GRCh37 19 5455737 5455737 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 4 18 0 ENST00000222033.4:c.235G>A p.Ala79Thr p.A79T ENST00000222033 NM_181710.3 79 Gcc/Acc 0 -ZWILCH UCSF GRCh37 15 66806367 66806367 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 65 10 59 0 ENST00000307897.5:c.147C>T p.Asn49= p.N49= ENST00000307897 NM_017975.3 49 aaC/aaT 0 -ZZEF1 UCSF GRCh37 17 3999274 3999274 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 6 52 0 ENST00000381638.2:c.1765-1G>A p.X589_splice ENST00000381638 NM_015113.3 0 -ANKRA2 UCSF GRCh37 5 72858699 72858699 + missense_variant Missense_Mutation SNP G G T NOVEL P02_Pri Untested WXS Illumina HiSeq 70 8 89 0 ENST00000296785.3:c.8C>A p.Thr3Lys p.T3K ENST00000296785 NM_023039.4 3 aCa/aAa 0 -ARID1A UCSF GRCh37 1 27106658 27106658 + missense_variant Missense_Mutation SNP A A G NOVEL P02_Pri somatic WXS Sanger Illumina HiSeq 34 13 97 0 ENST00000324856.7:c.6269A>G p.His2090Arg p.H2090R ENST00000324856 NM_006015.4 2090 cAc/cGc 0 -C7orf70 UCSF GRCh37 7 6370158 6370158 + missense_variant Missense_Mutation SNP G G A NOVEL P02_Pri Untested WXS Illumina HiSeq 114 18 195 1 ENST00000313324.4:c.628C>T p.Arg210Cys p.R210C ENST00000313324 NM_001037163.1 210 Cgc/Tgc 0 -CCDC168 UCSF GRCh37 13 103381996 103381996 + frameshift_variant Frame_Shift_Del DEL A A - snp132_rs34874700 P02_Pri Untested WXS Illumina HiSeq 6 0 ENST00000322527.2:c.7164delT p.Phe2388LeufsTer25 p.F2388Lfs*25 ENST00000322527 NM_001146197.1 2388 ttT/tt 0 -CYLC2 UCSF GRCh37 9 105767104 105767104 + missense_variant Missense_Mutation SNP G G A NOVEL P02_Pri Untested WXS Illumina HiSeq 27 21 45 0 ENST00000374798.3:c.308G>A p.Arg103His p.R103H ENST00000374798 NM_001340.3 103 cGt/cAt 0 -E2F8 UCSF GRCh37 11 19252368 19252368 + synonymous_variant Silent SNP G G A NOVEL P02_Pri Untested WXS Illumina HiSeq 36 20 48 0 ENST00000250024.4:c.1080C>T p.Val360= p.V360= ENST00000250024 NM_024680.3 360 gtC/gtT 0 -EPS8L3 UCSF GRCh37 1 110293388 110293388 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.0085 P02_Pri Untested WXS Illumina HiSeq 8 6 17 0 ENST00000361965.4:c.1664C>T p.Thr555Met p.T555M ENST00000361965 555 aCg/aTg 0 -FAM149A UCSF GRCh37 4 187084645 187084645 + missense_variant Missense_Mutation SNP G G A NOVEL P02_Pri Untested WXS Illumina HiSeq 21 6 36 0 ENST00000356371.5:c.1774G>A p.Gly592Arg p.G592R ENST00000356371 592 Gga/Aga 0 -FAM171A1 UCSF GRCh37 10 15296788 15296788 + missense_variant Missense_Mutation SNP G G A NOVEL P02_Pri Untested WXS Illumina HiSeq 19 12 55 0 ENST00000378116.4:c.509C>T p.Thr170Met p.T170M ENST00000378116 NM_001010924.1 170 aCg/aTg 0 -GATA6 UCSF GRCh37 18 19761487 19761487 + missense_variant Missense_Mutation SNP C C A NOVEL P02_Pri Untested WXS Illumina HiSeq 35 5 52 0 ENST00000269216.3:c.1376C>A p.Ala459Asp p.A459D ENST00000269216 NM_005257.4 459 gCc/gAc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P02_Pri Untested WXS Illumina HiSeq 29 35 77 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LAMB3 UCSF GRCh37 1 209805972 209805972 + missense_variant Missense_Mutation SNP C C T snp132_rs113063967 P02_Pri Untested WXS Illumina HiSeq 15 7 19 0 ENST00000356082.4:c.778G>A p.Ala260Thr p.A260T ENST00000356082 NM_000228.2 260 Gca/Aca 0 -LRRC37A3 UCSF GRCh37 17 62856876 62856876 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.005,1000g2011may_all_0.0139,snp132_rs77916588 P02_Pri Untested WXS Illumina HiSeq 125 43 218 0 ENST00000319651.5:c.3388G>A p.Val1130Ile p.V1130I ENST00000319651 1130 Gtt/Att 0 -NEURL UCSF GRCh37 10 105349981 105349981 + missense_variant Missense_Mutation SNP A A C NOVEL P02_Pri Untested WXS Illumina HiSeq 15 13 47 0 ENST00000369780.4:c.1577A>C p.Glu526Ala p.E526A ENST00000369780 NM_004210.4 526 gAa/gCa 0 -OGT UCSF GRCh37 X 70787552 70787552 + missense_variant Missense_Mutation SNP C C A NOVEL P02_Pri Untested WXS Illumina HiSeq 12 12 60 0 ENST00000373719.3:c.2792C>A p.Thr931Asn p.T931N ENST00000373719 NM_181673.2 931 aCc/aAc 0 -RBBP7 UCSF GRCh37 X 16881197 16881197 + missense_variant Missense_Mutation SNP T T A NOVEL P02_Pri Untested WXS Illumina HiSeq 37 29 85 0 ENST00000380087.2:c.188A>T p.His63Leu p.H63L ENST00000380087 63 cAt/cTt 0 -RHPN2 UCSF GRCh37 19 33490566 33490566 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.110,snp132_rs74582927 P02_Pri Untested WXS Illumina HiSeq 21 5 35 0 ENST00000254260.3:c.1151A>G p.Gln384Arg p.Q384R ENST00000254260 NM_033103.4 384 cAg/cGg 0 -SERPINB12 UCSF GRCh37 18 61228397 61228397 + missense_variant Missense_Mutation SNP G G T NOVEL P02_Pri Untested WXS Illumina HiSeq 75 26 104 0 ENST00000269491.1:c.464G>T p.Arg155Ile p.R155I ENST00000269491 NM_080474.1 155 aGa/aTa 0 -SLC39A12 UCSF GRCh37 10 18250713 18250713 + synonymous_variant Silent SNP T T C NOVEL P02_Pri Untested WXS Illumina HiSeq 58 19 94 0 ENST00000377369.2:c.465T>C p.Asp155= p.D155= ENST00000377369 NM_001145195.1 155 gaT/gaC 0 -SNCAIP UCSF GRCh37 5 121787259 121787259 + missense_variant Missense_Mutation SNP A A C NOVEL P02_Pri Untested WXS Illumina HiSeq 47 14 96 0 ENST00000261368.8:c.2717A>C p.Asn906Thr p.N906T ENST00000261368 NM_005460.2 906 aAc/aCc 0 -SPIC UCSF GRCh37 12 101880272 101880272 + missense_variant Missense_Mutation SNP G G T NOVEL P02_Pri Untested WXS Illumina HiSeq 100 35 131 0 ENST00000551346.1:c.470G>T p.Arg157Ile p.R157I ENST00000551346 157 aGa/aTa 0 -TP53 UCSF GRCh37 17 7578370 7578370 + splice_donor_variant Splice_Site SNP C C T NOVEL P02_Pri somatic WXS Sanger Illumina HiSeq 2 14 21 0 ENST00000269305.4:c.559+1G>A p.X187_splice ENST00000269305 NM_001126112.2 0 -TPTE2 UCSF GRCh37 13 20006639 20006639 + missense_variant Missense_Mutation SNP T T A NOVEL P02_Pri Untested WXS Illumina HiSeq 96 12 90 1 ENST00000400230.2:c.1196A>T p.Lys399Ile p.K399I ENST00000400230 399 aAa/aTa 0 -TRAPPC10 UCSF GRCh37 21 45502963 45502963 + missense_variant Missense_Mutation SNP C C T NOVEL P02_Pri Untested WXS Illumina HiSeq 35 27 92 0 ENST00000291574.4:c.2018C>T p.Ala673Val p.A673V ENST00000291574 NM_003274.4 673 gCg/gTg 0 -ZNF521 UCSF GRCh37 18 22804622 22804622 + missense_variant Missense_Mutation SNP C C G NOVEL P02_Pri Untested WXS Illumina HiSeq 43 5 69 1 ENST00000361524.3:c.3260G>C p.Gly1087Ala p.G1087A ENST00000361524 NM_015461.2 1087 gGc/gCc 0 -ZNF676 UCSF GRCh37 19 22364067 22364090 + inframe_deletion In_Frame_Del DEL CAAAATGATCTGACATATTCTTTA CAAAATGATCTGACATATTCTTTA - NOVEL P02_Pri Untested WXS Illumina HiSeq 6 0 ENST00000397121.2:c.429_452del p.Lys144_Cys151del p.K144_C151del ENST00000397121 NM_001001411.2 143 tgTAAAGAATATGTCAGATCATTTTGc/tgc 0 -ARID1A UCSF GRCh37 1 27106658 27106658 + missense_variant Missense_Mutation SNP A A G NOVEL P02_Rec somatic WXS Sanger Illumina HiSeq 87 13 97 0 ENST00000324856.7:c.6269A>G p.His2090Arg p.H2090R ENST00000324856 NM_006015.4 2090 cAc/cGc 0 -CEP350 UCSF GRCh37 1 180022947 180022948 + frameshift_variant Frame_Shift_Ins INS - - TCGACAGTATATGAAAGAGGAAGAAA NOVEL P02_Rec Untested WXS Illumina HiSeq 11 0 ENST00000367607.3:c.5052_5053insTCGACAGTATATGAAAGAGGAAGAAA p.Arg1685SerfsTer13 p.R1685Sfs*13 ENST00000367607 NM_014810.4 1684 -/TCGACAGTATATGAAAGAGGAAGAAA 0 -CYLC2 UCSF GRCh37 9 105767104 105767104 + missense_variant Missense_Mutation SNP G G A NOVEL P02_Rec Untested WXS Illumina HiSeq 35 34 45 0 ENST00000374798.3:c.308G>A p.Arg103His p.R103H ENST00000374798 NM_001340.3 103 cGt/cAt 0 -E2F8 UCSF GRCh37 11 19252368 19252368 + synonymous_variant Silent SNP G G A NOVEL P02_Rec Untested WXS Illumina HiSeq 36 21 48 0 ENST00000250024.4:c.1080C>T p.Val360= p.V360= ENST00000250024 NM_024680.3 360 gtC/gtT 0 -EPS8L3 UCSF GRCh37 1 110293388 110293388 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.0085 P02_Rec Untested WXS Illumina HiSeq 23 20 17 0 ENST00000361965.4:c.1664C>T p.Thr555Met p.T555M ENST00000361965 555 aCg/aTg 0 -FAM171A1 UCSF GRCh37 10 15296788 15296788 + missense_variant Missense_Mutation SNP G G A NOVEL P02_Rec Untested WXS Illumina HiSeq 41 15 55 0 ENST00000378116.4:c.509C>T p.Thr170Met p.T170M ENST00000378116 NM_001010924.1 170 aCg/aTg 0 -FCGBP UCSF GRCh37 19 40368330 40368330 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.124,1000g2011may_all_0.2035,snp132_rs74540349 P02_Rec Untested WXS Illumina HiSeq 72 8 47 1 ENST00000221347.6:c.13018G>A p.Glu4340Lys p.E4340K ENST00000221347 NM_003890.2 4340 Gaa/Aaa 0 -GGT1 UCSF GRCh37 22 25011077 25011077 + missense_variant Missense_Mutation SNP C C T NOVEL P02_Rec Untested WXS Illumina HiSeq 19 4 24 0 ENST00000248923.4:c.365C>T p.Ser122Leu p.S122L ENST00000248923 NM_013430.2 122 tCg/tTg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P02_Rec Untested WXS Illumina HiSeq 55 40 77 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LAMB3 UCSF GRCh37 1 209805972 209805972 + missense_variant Missense_Mutation SNP C C T snp132_rs113063967 P02_Rec Untested WXS Illumina HiSeq 18 8 19 0 ENST00000356082.4:c.778G>A p.Ala260Thr p.A260T ENST00000356082 NM_000228.2 260 Gca/Aca 0 -LRP4 UCSF GRCh37 11 46898772 46898772 + synonymous_variant Silent SNP G G A NOVEL P02_Rec Untested WXS Illumina HiSeq 70 11 70 0 ENST00000378623.1:c.3255C>T p.Ala1085= p.A1085= ENST00000378623 NM_002334.3 1085 gcC/gcT 0 -LRRC37A3 UCSF GRCh37 17 62856876 62856876 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.005,1000g2011may_all_0.0139,snp132_rs77916588 P02_Rec Untested WXS Illumina HiSeq 206 29 218 0 ENST00000319651.5:c.3388G>A p.Val1130Ile p.V1130I ENST00000319651 1130 Gtt/Att 0 -MMRN1 UCSF GRCh37 4 90874492 90874492 + stop_gained Nonsense_Mutation SNP C C T NOVEL P02_Rec Untested WXS Illumina HiSeq 85 16 103 0 ENST00000264790.2:c.3610C>T p.Arg1204Ter p.R1204* ENST00000264790 NM_007351.2 1204 Cga/Tga 0 -NEURL UCSF GRCh37 10 105349981 105349981 + missense_variant Missense_Mutation SNP A A C NOVEL P02_Rec Untested WXS Illumina HiSeq 35 17 47 0 ENST00000369780.4:c.1577A>C p.Glu526Ala p.E526A ENST00000369780 NM_004210.4 526 gAa/gCa 0 -NPC1L1 UCSF GRCh37 7 44578793 44578793 + synonymous_variant Silent SNP G G A NOVEL P02_Rec Untested WXS Illumina HiSeq 79 9 79 0 ENST00000289547.4:c.1203C>T p.Phe401= p.F401= ENST00000289547 NM_013389.2 401 ttC/ttT 0 -OGT UCSF GRCh37 X 70787552 70787552 + missense_variant Missense_Mutation SNP C C A NOVEL P02_Rec Untested WXS Illumina HiSeq 21 12 60 0 ENST00000373719.3:c.2792C>A p.Thr931Asn p.T931N ENST00000373719 NM_181673.2 931 aCc/aAc 0 -PTPRM UCSF GRCh37 18 8244164 8244164 + synonymous_variant Silent SNP C C T NOVEL P02_Rec Untested WXS Illumina HiSeq 103 14 85 0 ENST00000332175.8:c.2409C>T p.Asp803= p.D803= ENST00000332175 NM_002845.3 803 gaC/gaT 0 -RBBP7 UCSF GRCh37 X 16881197 16881197 + missense_variant Missense_Mutation SNP T T A NOVEL P02_Rec Untested WXS Illumina HiSeq 82 38 85 0 ENST00000380087.2:c.188A>T p.His63Leu p.H63L ENST00000380087 63 cAt/cTt 0 -SERPINB12 UCSF GRCh37 18 61228397 61228397 + missense_variant Missense_Mutation SNP G G T NOVEL P02_Rec Untested WXS Illumina HiSeq 67 50 104 0 ENST00000269491.1:c.464G>T p.Arg155Ile p.R155I ENST00000269491 NM_080474.1 155 aGa/aTa 0 -SLC39A12 UCSF GRCh37 10 18250713 18250713 + synonymous_variant Silent SNP T T C NOVEL P02_Rec Untested WXS Illumina HiSeq 70 44 94 0 ENST00000377369.2:c.465T>C p.Asp155= p.D155= ENST00000377369 NM_001145195.1 155 gaT/gaC 0 -SPIC UCSF GRCh37 12 101880272 101880272 + missense_variant Missense_Mutation SNP G G T NOVEL P02_Rec Untested WXS Illumina HiSeq 72 58 131 0 ENST00000551346.1:c.470G>T p.Arg157Ile p.R157I ENST00000551346 157 aGa/aTa 0 -TP53 UCSF GRCh37 17 7578370 7578370 + splice_donor_variant Splice_Site SNP C C T NOVEL P02_Rec somatic WXS Sanger Illumina HiSeq 4 39 21 0 ENST00000269305.4:c.559+1G>A p.X187_splice ENST00000269305 NM_001126112.2 0 -TRAPPC10 UCSF GRCh37 21 45502963 45502963 + missense_variant Missense_Mutation SNP C C T NOVEL P02_Rec Untested WXS Illumina HiSeq 45 45 92 0 ENST00000291574.4:c.2018C>T p.Ala673Val p.A673V ENST00000291574 NM_003274.4 673 gCg/gTg 0 -WDR33 UCSF GRCh37 2 128463940 128463940 + missense_variant Missense_Mutation SNP G G C NOVEL P02_Rec Untested WXS Illumina HiSeq 107 15 101 0 ENST00000322313.4:c.3968C>G p.Pro1323Arg p.P1323R ENST00000322313 NM_018383.4 1323 cCg/cGg 0 -ZNF676 UCSF GRCh37 19 22364067 22364090 + inframe_deletion In_Frame_Del DEL CAAAATGATCTGACATATTCTTTA CAAAATGATCTGACATATTCTTTA - NOVEL P02_Rec Untested WXS Illumina HiSeq 9 0 ENST00000397121.2:c.429_452del p.Lys144_Cys151del p.K144_C151del ENST00000397121 NM_001001411.2 143 tgTAAAGAATATGTCAGATCATTTTGc/tgc 0 -ZNF676 UCSF GRCh37 19 22364102 22364146 + inframe_deletion In_Frame_Del DEL TTTCTCTCCAGTATGCCTTATCTTATGTCTGTTTGAATTTGAACA TTTCTCTCCAGTATGCCTTATCTTATGTCTGTTTGAATTTGAACA - NOVEL P02_Rec Untested WXS Illumina HiSeq 7 0 ENST00000397121.2:c.373_417del p.Cys125_Lys139del p.C125_K139del ENST00000397121 NM_001001411.2 125 TGTTCAAATTCAAACAGACATAAGATAAGGCATACTGGAGAGAAA/- 0 -ACSF2 UCSF GRCh37 17 48541208 48541208 + missense_variant Missense_Mutation SNP T T G NOVEL P04_Pri Untested WXS Illumina HiSeq 66 31 102 0 ENST00000300441.4:c.1076T>G p.Met359Arg p.M359R ENST00000300441 NM_025149.4 359 aTg/aGg 0 -BOD1L UCSF GRCh37 4 13604659 13604659 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Pri Untested WXS Illumina HiSeq 139 76 170 0 ENST00000040738.5:c.3865G>A p.Val1289Ile p.V1289I ENST00000040738 NM_148894.2 1289 Gtt/Att 0 -CAMT-ND2 UCSF GRCh37 3 12858462 12858462 + synonymous_variant Silent SNP C C T NOVEL P04_Pri somatic WXS Sanger Illumina HiSeq 33 25 61 1 ENST00000456430.2:c.2031C>T p.Asp677= p.D677= ENST00000456430 NM_001162499.1 677 gaC/gaT 0 -CDH7 UCSF GRCh37 18 63481815 63481815 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.013,1000g2011may_all_0.0353,snp132_rs17075245 P04_Pri Untested WXS Illumina HiSeq 110 54 141 0 ENST00000323011.3:c.600G>A p.Pro200= p.P200= ENST00000323011 NM_033646.1 200 ccG/ccA 0 -IDH1 UCSF GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Pri Untested WXS Illumina HiSeq 75 46 91 0 ENST00000345146.2:c.394C>T p.Arg132Cys p.R132C ENST00000345146 NM_005896.2 132 Cgt/Tgt 0 -MUC4 UCSF GRCh37 3 195506723 195506770 + inframe_deletion In_Frame_Del DEL TGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAG TGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAG - NOVEL P04_Pri Untested WXS Illumina HiSeq 8 0 ENST00000463781.3:c.11691_11738del p.Arg3900_Thr3915del p.R3900_T3915del ENST00000463781 NM_018406.6 3894 aCTTCCTCAGCATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACAct/act 0 -OR10V1 UCSF GRCh37 11 59480502 59480502 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Pri Untested WXS Illumina HiSeq 83 44 124 0 ENST00000307552.2:c.817C>T p.Arg273Trp p.R273W ENST00000307552 NM_001005324.1 273 Cgg/Tgg 0 -PSAPL1 UCSF GRCh37 4 7435803 7435803 + synonymous_variant Silent SNP G G A NOVEL P04_Pri somatic WXS Sanger Illumina HiSeq 101 42 122 0 ENST00000319098.4:c.804C>T p.Ala268= p.A268= ENST00000319098 NM_001085382.1 268 gcC/gcT 0 -RYR1 UCSF GRCh37 19 38939100 38939100 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.005,1000g2011may_all_0.0263 P04_Pri somatic WXS Sanger Illumina HiSeq 111 67 128 0 ENST00000359596.3:c.906C>T p.Asp302= p.D302= ENST00000359596 302 gaC/gaT 0 -PRAG1 UCSF GRCh37 8 8234869 8234870 + inframe_insertion In_Frame_Ins INS - - GCCGCT snp132_rs35972623 P04_Pri Untested WXS Illumina HiSeq 7 0 ENST00000520004.1:c.1049_1050insAGCGGC p.Ala351_Ser352insAlaAla p.A351_S352insAA ENST00000520004 350 ggc/ggAGCGGCc 0 -SLC9A4 UCSF GRCh37 2 103148842 103148842 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Pri Untested WXS Illumina HiSeq 78 36 142 0 ENST00000295269.4:c.2092C>T p.Arg698Trp p.R698W ENST00000295269 NM_001011552.3 698 Cgg/Tgg 0 -TEAD3 UCSF GRCh37 6 35454288 35454288 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Pri Untested WXS Illumina HiSeq 41 21 51 0 ENST00000338863.7:c.152C>T p.Pro51Leu p.P51L ENST00000338863 NM_003214.3 51 cCg/cTg 0 -TERF2IP UCSF GRCh37 16 75690462 75690462 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Pri Untested WXS Illumina HiSeq 128 82 160 0 ENST00000300086.4:c.1153T>C p.Phe385Leu p.F385L ENST00000300086 NM_018975.3 385 Ttt/Ctt 0 -TERF2IP UCSF GRCh37 16 75690302 75690302 + synonymous_variant Silent SNP A A C NOVEL P04_Pri Untested WXS Illumina HiSeq 131 83 138 0 ENST00000300086.4:c.993A>C p.Thr331= p.T331= ENST00000300086 NM_018975.3 331 acA/acC 0 -TP53 UCSF GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T snp132_rs11540652 P04_Pri somatic WXS Sanger Illumina HiSeq 24 54 41 0 ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 -WDFY4 UCSF GRCh37 10 50004488 50004488 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Pri Untested WXS Illumina HiSeq 116 50 143 0 ENST00000325239.5:c.4403A>G p.Asn1468Ser p.N1468S ENST00000325239 NM_020945.1 1468 aAt/aGt 0 -ZNF107 UCSF GRCh37 7 64167377 64167377 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Pri Untested WXS Illumina HiSeq 97 45 128 0 ENST00000344930.3:c.695C>G p.Thr232Ser p.T232S ENST00000344930 NM_001013746.1 232 aCt/aGt 0 -ACSF2 UCSF GRCh37 17 48541208 48541208 + missense_variant Missense_Mutation SNP T T G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 46 40 102 0 ENST00000300441.4:c.1076T>G p.Met359Arg p.M359R ENST00000300441 NM_025149.4 359 aTg/aGg 0 -ADAM17 UCSF GRCh37 2 9630335 9630335 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 77 16 75 0 ENST00000310823.3:c.2446C>T p.Arg816Cys p.R816C ENST00000310823 NM_003183.4 816 Cgt/Tgt 0 -ADAM29 UCSF GRCh37 4 175898766 175898766 + missense_variant Missense_Mutation SNP T T A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 117 27 111 0 ENST00000359240.3:c.2090T>A p.Leu697His p.L697H ENST00000359240 NM_014269.4 697 cTt/cAt 0 -APOPT1 UCSF GRCh37 14 104040439 104040465 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TTAAGGAAAAAGAAGAATTTATTCACT TTAAGGAAAAAGAAGAATTTATTCACT AAGGAAAAAGAAGAATTTTTTAACC NOVEL P04_Rec1 Untested WXS Illumina HiSeq 6 0 ENST00000409074.2:c.361-5_382delinsAAGGAAAAAGAAGAATTTTTTAACC p.X121_splice ENST00000409074 NM_032374.3 0 -ATXN2L UCSF GRCh37 16 28840741 28840741 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 70 17 82 0 ENST00000336783.4:c.761A>G p.Asn254Ser p.N254S ENST00000336783 NM_007245.3 254 aAt/aGt 0 -BOD1L UCSF GRCh37 4 13604659 13604659 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec1 Untested WXS Illumina HiSeq 151 111 170 0 ENST00000040738.5:c.3865G>A p.Val1289Ile p.V1289I ENST00000040738 NM_148894.2 1289 Gtt/Att 0 -C5orf54 UCSF GRCh37 5 159822214 159822214 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 186 21 168 0 ENST00000408953.3:c.284C>T p.Ser95Leu p.S95L ENST00000408953 NM_022090.3 95 tCg/tTg 0 -TEX56P UCSF GRCh37 6 4087953 4087953 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec1 Untested WXS Illumina HiSeq 121 165 123 0 ENST00000380175.4:c.78G>C p.Lys26Asn p.K26N ENST00000380175 NM_001085401.2 26 aaG/aaC 0 -CDH7 UCSF GRCh37 18 63481815 63481815 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.013,1000g2011may_all_0.0353,snp132_rs17075245 P04_Rec1 Untested WXS Illumina HiSeq 111 82 141 0 ENST00000323011.3:c.600G>A p.Pro200= p.P200= ENST00000323011 NM_033646.1 200 ccG/ccA 0 -CYP2C9 UCSF GRCh37 10 96702051 96702051 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Rec1 Untested WXS Illumina HiSeq 90 56 121 0 ENST00000260682.6:c.434T>C p.Val145Ala p.V145A ENST00000260682 NM_000771.3 145 gTt/gCt 0 -DEFB126 UCSF GRCh37 20 126310 126311 + frameshift_variant Frame_Shift_Del DEL AC AC - NOVEL P04_Rec1 Untested WXS Illumina HiSeq 9 0 ENST00000382398.3:c.313_314del p.Thr105ProfsTer? p.T105Pfs*? ENST00000382398 NM_030931.3 105 ACc/c 0 -FAM206A UCSF GRCh37 9 111701942 111701942 + synonymous_variant Silent SNP T T C NOVEL P04_Rec1 Untested WXS Illumina HiSeq 99 63 123 0 ENST00000322940.6:c.522T>C p.Ile174= p.I174= ENST00000322940 NM_017832.3 174 atT/atC 0 -FUT11 UCSF GRCh37 10 75532510 75532510 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 10 6 18 0 ENST00000372841.3:c.419A>G p.Gln140Arg p.Q140R ENST00000372841 NM_173540.2 140 cAg/cGg 0 -HEY2 UCSF GRCh37 6 126080810 126080810 + synonymous_variant Silent SNP C C T NOVEL P04_Rec1 somatic WXS Sanger Illumina HiSeq 65 42 97 0 ENST00000368364.3:c.876C>T p.Asn292= p.N292= ENST00000368364 NM_012259.2 292 aaC/aaT 0 -IDH1 UCSF GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 101 61 91 0 ENST00000345146.2:c.394C>T p.Arg132Cys p.R132C ENST00000345146 NM_005896.2 132 Cgt/Tgt 0 -KIAA1731 UCSF GRCh37 11 93432660 93432660 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec1 Untested WXS Illumina HiSeq 223 68 184 0 ENST00000325212.6:c.4582G>C p.Glu1528Gln p.E1528Q ENST00000325212 1528 Gaa/Caa 0 -KRT83 UCSF GRCh37 12 52711478 52711478 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec1 Untested WXS Illumina HiSeq 93 13 88 0 ENST00000293670.3:c.737G>A p.Arg246Gln p.R246Q ENST00000293670 NM_002282.3 246 cGg/cAg 0 -LSG1 UCSF GRCh37 3 194369475 194369475 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 74 56 99 0 ENST00000265245.5:c.1478C>T p.Thr493Met p.T493M ENST00000265245 NM_018385.2 493 aCg/aTg 0 -MACF1 UCSF GRCh37 1 39934319 39934319 + synonymous_variant Silent SNP T T C NOVEL P04_Rec1 Untested WXS Illumina HiSeq 93 26 108 0 ENST00000372915.3:c.21483T>C p.Arg7161= p.R7161= ENST00000372915 7161 cgT/cgC 0 -MGAT4C UCSF GRCh37 12 86373731 86373731 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 141 43 120 0 ENST00000548651.1:c.773G>C p.Gly258Ala p.G258A ENST00000548651 NM_013244.3 258 gGc/gCc 0 -MRPL55 UCSF GRCh37 1 228295410 228295410 + missense_variant Missense_Mutation SNP T T G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 31 6 33 2 ENST00000295008.4:c.187A>C p.Thr63Pro p.T63P ENST00000295008 NM_181464.2 63 Acc/Ccc 0 -MRPS6 UCSF GRCh37 21 35514779 35514779 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Rec1 Untested WXS Illumina HiSeq 112 16 73 0 ENST00000399312.2:c.257T>C p.Ile86Thr p.I86T ENST00000399312 NM_032476.3 86 aTa/aCa 0 -MUC16 UCSF GRCh37 19 9070009 9070009 + stop_gained Nonsense_Mutation SNP C C A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 137 123 167 0 ENST00000397910.4:c.17437G>T p.Glu5813Ter p.E5813* ENST00000397910 NM_024690.2 5813 Gag/Tag 0 -OR10T2 UCSF GRCh37 1 158368385 158368385 + missense_variant Missense_Mutation SNP C C A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 65 29 88 0 ENST00000334438.1:c.872G>T p.Ser291Ile p.S291I ENST00000334438 NM_001004475.1 291 aGt/aTt 0 -PDZD2 UCSF GRCh37 5 32087897 32087897 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Rec1 somatic WXS Sanger Illumina HiSeq 36 11 40 0 ENST00000438447.1:c.4343A>G p.Asp1448Gly p.D1448G ENST00000438447 1448 gAc/gGc 0 -PSAPL1 UCSF GRCh37 4 7435803 7435803 + synonymous_variant Silent SNP G G A NOVEL P04_Rec1 somatic WXS Sanger Illumina HiSeq 59 51 122 0 ENST00000319098.4:c.804C>T p.Ala268= p.A268= ENST00000319098 NM_001085382.1 268 gcC/gcT 0 -RAP1GAP2 UCSF GRCh37 17 2909313 2909313 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec1 Untested WXS Illumina HiSeq 80 24 65 0 ENST00000254695.8:c.1337C>T p.Ser446Leu p.S446L ENST00000254695 NM_015085.4 446 tCg/tTg 0 -RIMBP2 UCSF GRCh37 12 130926571 130926571 + synonymous_variant Silent SNP G G A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 81 16 81 0 ENST00000261655.4:c.1275C>T p.Asn425= p.N425= ENST00000261655 NM_015347.4 425 aaC/aaT 0 -SLC9A4 UCSF GRCh37 2 103148842 103148842 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec1 Untested WXS Illumina HiSeq 81 64 142 0 ENST00000295269.4:c.2092C>T p.Arg698Trp p.R698W ENST00000295269 NM_001011552.3 698 Cgg/Tgg 0 -SPATA6 UCSF GRCh37 1 48764545 48764545 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 156 43 126 0 ENST00000371847.3:c.1307G>C p.Gly436Ala p.G436A ENST00000371847 NM_019073.2 436 gGc/gCc 0 -TDG UCSF GRCh37 12 104373729 104373730 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 9 0 ENST00000392872.3:c.292dup p.Ile98AsnfsTer6 p.I98Nfs*6 ENST00000392872 NM_003211.4 96 gaa/gaAa 0 -TEAD3 UCSF GRCh37 6 35454288 35454288 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 28 40 51 0 ENST00000338863.7:c.152C>T p.Pro51Leu p.P51L ENST00000338863 NM_003214.3 51 cCg/cTg 0 -TP53 UCSF GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T snp132_rs11540652 P04_Rec1 somatic WXS Sanger Illumina HiSeq 5 58 41 0 ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 -ZNF107 UCSF GRCh37 7 64167377 64167377 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 109 50 128 0 ENST00000344930.3:c.695C>G p.Thr232Ser p.T232S ENST00000344930 NM_001013746.1 232 aCt/aGt 0 -ACSF2 UCSF GRCh37 17 48541208 48541208 + missense_variant Missense_Mutation SNP T T G NOVEL P04_Rec2 Untested WXS Illumina HiSeq 38 27 102 0 ENST00000300441.4:c.1076T>G p.Met359Arg p.M359R ENST00000300441 NM_025149.4 359 aTg/aGg 0 -APOBEC4 UCSF GRCh37 1 183617696 183617696 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec2 somatic WXS Sanger Illumina HiSeq 91 54 145 0 ENST00000308641.4:c.221C>G p.Ser74Cys p.S74C ENST00000308641 NM_203454.2 74 tCt/tGt 0 -BOD1L UCSF GRCh37 4 13604659 13604659 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec2 Untested WXS Illumina HiSeq 71 62 170 0 ENST00000040738.5:c.3865G>A p.Val1289Ile p.V1289I ENST00000040738 NM_148894.2 1289 Gtt/Att 0 -CDH7 UCSF GRCh37 18 63481815 63481815 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.013,1000g2011may_all_0.0353,snp132_rs17075245 P04_Rec2 Untested WXS Illumina HiSeq 66 49 141 0 ENST00000323011.3:c.600G>A p.Pro200= p.P200= ENST00000323011 NM_033646.1 200 ccG/ccA 0 -CFH UCSF GRCh37 1 196694259 196694259 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Rec2 Untested WXS Illumina HiSeq 70 44 95 0 ENST00000367429.4:c.1705T>C p.Cys569Arg p.C569R ENST00000367429 NM_000186.3 569 Tgc/Cgc 0 -CLASP1 UCSF GRCh37 2 122182732 122182732 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec2 Untested WXS Illumina HiSeq 59 62 135 0 ENST00000263710.4:c.2195C>G p.Pro732Arg p.P732R ENST00000263710 NM_015282.2 732 cCa/cGa 0 -COL13A1 UCSF GRCh37 10 71684757 71684757 + synonymous_variant Silent SNP C C T NOVEL P04_Rec2 somatic WXS Sanger Illumina HiSeq 18 8 25 0 ENST00000398978.3:c.1290C>T p.Gly430= p.G430= ENST00000398978 NM_001130103.1 430 ggC/ggT 0 -DPYSL4 UCSF GRCh37 10 134006219 134006219 + synonymous_variant Silent SNP C C G NOVEL P04_Rec2 Untested WXS Illumina HiSeq 54 23 95 0 ENST00000338492.4:c.186C>G p.Gly62= p.G62= ENST00000338492 NM_006426.2 62 ggC/ggG 0 -GABRE UCSF GRCh37 X 151123975 151123975 + synonymous_variant Silent SNP G G A NOVEL P04_Rec2 somatic WXS Sanger Illumina HiSeq 8 58 71 0 ENST00000370328.3:c.1002C>T p.Val334= p.V334= ENST00000370328 NM_004961.3 334 gtC/gtT 0 -GPR112 UCSF GRCh37 X 135453557 135453557 + missense_variant Missense_Mutation SNP G G T NOVEL P04_Rec2 Untested WXS Illumina HiSeq 5 42 51 0 ENST00000370652.1:c.7467G>T p.Glu2489Asp p.E2489D ENST00000370652 2489 gaG/gaT 0 -GULP1 UCSF GRCh37 2 189449083 189449083 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec2 Untested WXS Illumina HiSeq 84 52 131 0 ENST00000359135.3:c.701G>A p.Arg234His p.R234H ENST00000359135 234 cGc/cAc 0 -IDH1 UCSF GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec2 Untested WXS Illumina HiSeq 61 38 91 0 ENST00000345146.2:c.394C>T p.Arg132Cys p.R132C ENST00000345146 NM_005896.2 132 Cgt/Tgt 0 -LAMA3 UCSF GRCh37 18 21484018 21484018 + missense_variant Missense_Mutation SNP G G T NOVEL P04_Rec2 Untested WXS Illumina HiSeq 60 44 126 0 ENST00000313654.9:c.6440G>T p.Arg2147Leu p.R2147L ENST00000313654 NM_198129.1 2147 cGg/cTg 0 -PHRF1 UCSF GRCh37 11 587424 587424 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec2 Untested WXS Illumina HiSeq 38 49 99 0 ENST00000264555.5:c.380C>G p.Ala127Gly p.A127G ENST00000264555 NM_020901.2 127 gCc/gGc 0 -PSAP UCSF GRCh37 10 73579333 73579334 + frameshift_variant Frame_Shift_Ins INS - - CTTG NOVEL P04_Rec2 Untested WXS Illumina HiSeq 18 0 ENST00000394936.3:c.1238_1239insCAAG p.Lys413AsnfsTer26 p.K413Nfs*26 ENST00000394936 413 aag/aaCAAGg 0 -SLC9A4 UCSF GRCh37 2 103148842 103148842 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec2 Untested WXS Illumina HiSeq 52 33 142 0 ENST00000295269.4:c.2092C>T p.Arg698Trp p.R698W ENST00000295269 NM_001011552.3 698 Cgg/Tgg 0 -SLCO1B7 UCSF GRCh37 12 21200142 21200142 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P04_Rec2 Untested WXS Illumina HiSeq 41 0 ENST00000421593.2:c.989del p.Leu330CysfsTer28 p.L330Cfs*28 ENST00000421593 NM_001009562.4 329 Ttt/tt 0 -SNRPB UCSF GRCh37 20 2443747 2443747 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec2 Untested WXS Illumina HiSeq 39 38 103 0 ENST00000438552.2:c.547G>A p.Ala183Thr p.A183T ENST00000438552 NM_198216.1 183 Gca/Aca 0 -SPIRE1 UCSF GRCh37 18 12449679 12449679 + synonymous_variant Silent SNP G G C NOVEL P04_Rec2 somatic WXS Sanger Illumina HiSeq 29 29 96 0 ENST00000409402.4:c.2229C>G p.Pro743= p.P743= ENST00000409402 NM_001128626.1 743 ccC/ccG 0 -TEAD3 UCSF GRCh37 6 35454288 35454288 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec2 Untested WXS Illumina HiSeq 23 14 51 0 ENST00000338863.7:c.152C>T p.Pro51Leu p.P51L ENST00000338863 NM_003214.3 51 cCg/cTg 0 -TP53 UCSF GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T snp132_rs11540652 P04_Rec2 somatic WXS Sanger Illumina HiSeq 2 28 41 0 ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 -UBQLNL UCSF GRCh37 11 5536309 5536309 + missense_variant Missense_Mutation SNP G G C 1000g2010nov_all_0.027,1000g2011may_all_0.04739,snp132_rs12223282 P04_Rec2 Untested WXS Illumina HiSeq 48 47 133 0 ENST00000380184.1:c.1363C>G p.Gln455Glu p.Q455E ENST00000380184 NM_145053.4 455 Cag/Gag 0 -WDR72 UCSF GRCh37 15 54004993 54004993 + synonymous_variant Silent SNP C C T NOVEL P04_Rec2 Untested WXS Illumina HiSeq 55 43 93 0 ENST00000360509.5:c.687G>A p.Leu229= p.L229= ENST00000360509 229 ttG/ttA 0 -ZNF107 UCSF GRCh37 7 64167377 64167377 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec2 Untested WXS Illumina HiSeq 70 40 128 0 ENST00000344930.3:c.695C>G p.Thr232Ser p.T232S ENST00000344930 NM_001013746.1 232 aCt/aGt 0 -ACSF2 UCSF GRCh37 17 48541208 48541208 + missense_variant Missense_Mutation SNP T T G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 59 41 102 0 ENST00000300441.4:c.1076T>G p.Met359Arg p.M359R ENST00000300441 NM_025149.4 359 aTg/aGg 0 -AKAP6 UCSF GRCh37 14 33242972 33242973 + protein_altering_variant In_Frame_Ins INS - - GCA NOVEL P04_Rec3 Untested WXS Illumina HiSeq 6 0 ENST00000280979.4:c.3461_3462insGCA p.Cys1154delinsTrpHis p.C1154delinsWH ENST00000280979 NM_004274.4 1154 tgc/tgGCAc 0 -AKR1D1 UCSF GRCh37 7 137782608 137782611 + splice_acceptor_variant,intron_variant Splice_Site DEL TCAG TCAG CAC NOVEL P04_Rec3 Untested WXS Illumina HiSeq 7 0 ENST00000242375.3:c.379-4_379-1delinsCAC p.X127_splice ENST00000242375 NM_005989.3 0 -APOBEC4 UCSF GRCh37 1 183617696 183617696 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec3 somatic WXS Sanger Illumina HiSeq 89 85 145 0 ENST00000308641.4:c.221C>G p.Ser74Cys p.S74C ENST00000308641 NM_203454.2 74 tCt/tGt 0 -ARHGEF17 UCSF GRCh37 11 73076827 73076827 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 52 11 51 0 ENST00000263674.3:c.5830C>T p.Leu1944Phe p.L1944F ENST00000263674 NM_014786.3 1944 Ctc/Ttc 0 -ATXN3 UCSF GRCh37 14 92555132 92555132 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 41 0 ENST00000532032.1:c.417del p.Pro140GlnfsTer3 p.P140Qfs*3 ENST00000532032 139 ggT/gg 0 -BOD1L UCSF GRCh37 4 13604659 13604659 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 123 106 170 0 ENST00000040738.5:c.3865G>A p.Val1289Ile p.V1289I ENST00000040738 NM_148894.2 1289 Gtt/Att 0 -C1orf124 UCSF GRCh37 1 231488849 231488851 + frameshift_variant Frame_Shift_Del DEL CCC CCC A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 20 0 ENST00000295050.7:c.1212_1214delinsA p.Phe404LeufsTer3 p.F404Lfs*3 ENST00000295050 NM_032018.5 404 ttCCCa/ttAa 0 -C5orf22 UCSF GRCh37 5 31541063 31541064 + frameshift_variant Frame_Shift_Del DEL AC AC - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 8 0 ENST00000325366.9:c.816_817del p.Tyr272Ter p.Y272* ENST00000325366 NM_018356.2 272 tAC/t 0 -C9orf84 UCSF GRCh37 9 114486071 114486071 + splice_donor_variant Splice_Site SNP C C G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 81 15 50 0 ENST00000318737.4:c.1762+1G>C p.X588_splice ENST00000318737 NM_173521.3 0 -CASP10 UCSF GRCh37 2 202050641 202050641 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 18 0 ENST00000272879.5:c.144del p.Asn49ThrfsTer23 p.N49Tfs*23 ENST00000272879 NM_032974.4 47 gtC/gt 0 -CCR4 UCSF GRCh37 3 32994946 32994946 + missense_variant Missense_Mutation SNP T T A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 68 15 102 0 ENST00000330953.5:c.32T>A p.Leu11His p.L11H ENST00000330953 NM_005508.4 11 cTc/cAc 0 -CDH7 UCSF GRCh37 18 63481815 63481815 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.013,1000g2011may_all_0.0353,snp132_rs17075245 P04_Rec3 Untested WXS Illumina HiSeq 93 67 141 0 ENST00000323011.3:c.600G>A p.Pro200= p.P200= ENST00000323011 NM_033646.1 200 ccG/ccA 0 -CFH UCSF GRCh37 1 196694259 196694259 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Rec3 Untested WXS Illumina HiSeq 78 68 95 0 ENST00000367429.4:c.1705T>C p.Cys569Arg p.C569R ENST00000367429 NM_000186.3 569 Tgc/Cgc 0 -CHRM1 UCSF GRCh37 11 62678364 62678364 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec3 Untested WXS Illumina HiSeq 74 12 96 0 ENST00000306960.3:c.209C>G p.Ala70Gly p.A70G ENST00000306960 NM_000738.2 70 gCt/gGt 0 -CLASP1 UCSF GRCh37 2 122182732 122182732 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec3 Untested WXS Illumina HiSeq 121 106 135 0 ENST00000263710.4:c.2195C>G p.Pro732Arg p.P732R ENST00000263710 NM_015282.2 732 cCa/cGa 0 -CNKSR3 UCSF GRCh37 6 154763244 154763244 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 70 10 76 0 ENST00000607772.1:c.397G>A p.Ala133Thr p.A133T ENST00000607772 NM_173515.2 133 Gcc/Acc 0 -COL13A1 UCSF GRCh37 10 71684757 71684757 + synonymous_variant Silent SNP C C T NOVEL P04_Rec3 somatic WXS Sanger Illumina HiSeq 25 13 25 0 ENST00000398978.3:c.1290C>T p.Gly430= p.G430= ENST00000398978 NM_001130103.1 430 ggC/ggT 0 -CRTC2 UCSF GRCh37 1 153921068 153921068 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 95 18 92 0 ENST00000368633.1:c.1727C>T p.Pro576Leu p.P576L ENST00000368633 NM_181715.2 576 cCt/cTt 0 -CUL9 UCSF GRCh37 6 43190286 43190296 + frameshift_variant Frame_Shift_Del DEL GCGGAACCGGG GCGGAACCGGG - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 6 0 ENST00000252050.4:c.6939_6949del p.Leu2313PhefsTer6 p.L2313Ffs*6 ENST00000252050 NM_015089.2 2313 ttGCGGAACCGGGtg/tttg 0 -DDX60 UCSF GRCh37 4 169215051 169215051 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 118 27 114 0 ENST00000393743.3:c.769T>C p.Ser257Pro p.S257P ENST00000393743 NM_017631.5 257 Tct/Cct 0 -DGKI UCSF GRCh37 7 137172402 137172402 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Rec3 Untested WXS Illumina HiSeq 271 33 156 0 ENST00000288490.5:c.2336A>G p.Asp779Gly p.D779G ENST00000288490 NM_004717.2 779 gAc/gGc 0 -DPYSL4 UCSF GRCh37 10 134006219 134006219 + synonymous_variant Silent SNP C C G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 72 48 95 0 ENST00000338492.4:c.186C>G p.Gly62= p.G62= ENST00000338492 NM_006426.2 62 ggC/ggG 0 -DUOX1 UCSF GRCh37 15 45431646 45431649 + frameshift_variant Frame_Shift_Del DEL AGTT AGTT - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 15 0 ENST00000321429.4:c.1238_1241del p.Lys413IlefsTer66 p.K413Ifs*66 ENST00000321429 NM_017434.3 413 aAGTTt/at 0 -DYNC2H1 UCSF GRCh37 11 102984845 102984845 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 174 25 141 0 ENST00000375735.2:c.380G>A p.Ser127Asn p.S127N ENST00000375735 NM_001080463.1 127 aGc/aAc 0 -DYNC2LI1 UCSF GRCh37 2 44021791 44021791 + intron_variant Intron DEL C C - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 34 0 ENST00000260605.8:c.507+9del *169* ENST00000260605 NM_001193464.1 0 -ERC1 UCSF GRCh37 12 1192504 1192504 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 15 0 ENST00000360905.4:c.846del p.Leu283PhefsTer20 p.L283Ffs*20 ENST00000360905 282 Ttt/tt 0 -FAM75D1 UCSF GRCh37 9 84606868 84606868 + missense_variant Missense_Mutation SNP C C A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 181 52 170 0 ENST00000344803.2:c.1483C>A p.His495Asn p.H495N ENST00000344803 NM_001001670.2 495 Cat/Aat 0 -FIGNL1 UCSF GRCh37 7 50514933 50514933 + missense_variant Missense_Mutation SNP T T A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 87 21 79 0 ENST00000356889.4:c.53A>T p.Tyr18Phe p.Y18F ENST00000356889 NM_001287495.1 18 tAc/tTc 0 -FIGNL1 UCSF GRCh37 7 50514932 50514932 + synonymous_variant Silent SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 89 21 80 0 ENST00000356889.4:c.54C>T p.Tyr18= p.Y18= ENST00000356889 NM_001287495.1 18 taC/taT 0 -GABRE UCSF GRCh37 X 151123975 151123975 + synonymous_variant Silent SNP G G A NOVEL P04_Rec3 somatic WXS Sanger Illumina HiSeq 9 92 71 0 ENST00000370328.3:c.1002C>T p.Val334= p.V334= ENST00000370328 NM_004961.3 334 gtC/gtT 0 -GLMN UCSF GRCh37 1 92713511 92713511 + synonymous_variant Silent SNP A A G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 124 26 70 0 ENST00000370360.3:c.1509T>C p.Asn503= p.N503= ENST00000370360 NM_053274.2 503 aaT/aaC 0 -GPR112 UCSF GRCh37 X 135453557 135453557 + missense_variant Missense_Mutation SNP G G T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 6 52 51 0 ENST00000370652.1:c.7467G>T p.Glu2489Asp p.E2489D ENST00000370652 2489 gaG/gaT 0 -GRWD1 UCSF GRCh37 19 48955968 48955968 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 34 13 61 0 ENST00000253237.5:c.1027G>A p.Gly343Ser p.G343S ENST00000253237 NM_031485.3 343 Ggt/Agt 0 -GULP1 UCSF GRCh37 2 189449083 189449083 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 86 62 131 0 ENST00000359135.3:c.701G>A p.Arg234His p.R234H ENST00000359135 234 cGc/cAc 0 -HMBOX1 UCSF GRCh37 8 28827573 28827573 + missense_variant Missense_Mutation SNP A A C NOVEL P04_Rec3 somatic WXS Sanger Illumina HiSeq 138 31 114 0 ENST00000287701.10:c.37A>C p.Met13Leu p.M13L ENST00000287701 NM_001135726.1 13 Atg/Ctg 0 -HPS4 UCSF GRCh37 22 26862199 26862199 + missense_variant Missense_Mutation SNP C C A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 84 12 87 0 ENST00000336873.5:c.699G>T p.Gln233His p.Q233H ENST00000336873 233 caG/caT 0 -HSP90AB1 UCSF GRCh37 6 44217180 44217180 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 184 21 176 0 ENST00000353801.3:c.214A>G p.Lys72Glu p.K72E ENST00000353801 NM_001271969.1 72 Aaa/Gaa 0 -IDH1 UCSF GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 94 62 91 0 ENST00000345146.2:c.394C>T p.Arg132Cys p.R132C ENST00000345146 NM_005896.2 132 Cgt/Tgt 0 -IK UCSF GRCh37 5 140041897 140041897 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 30 0 ENST00000417647.2:c.1660del p.Arg554AspfsTer7 p.R554Dfs*7 ENST00000417647 NM_006083.3 553 Aaa/aa 0 -ITIH5L UCSF GRCh37 X 54785050 54785050 + missense_variant Missense_Mutation SNP A A T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 22 14 31 0 ENST00000218436.6:c.1457T>A p.Val486Asp p.V486D ENST00000218436 NM_198510.2 486 gTt/gAt 0 -KCTD16 UCSF GRCh37 5 143587110 143587110 + splice_donor_variant Splice_Site SNP G G T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 87 12 88 0 ENST00000507359.3:c.832+1G>T p.X278_splice ENST00000507359 NM_020768.3 0 -LAMA3 UCSF GRCh37 18 21484018 21484018 + missense_variant Missense_Mutation SNP G G T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 76 62 126 0 ENST00000313654.9:c.6440G>T p.Arg2147Leu p.R2147L ENST00000313654 NM_198129.1 2147 cGg/cTg 0 -MBD4 UCSF GRCh37 3 129155548 129155548 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 6 0 ENST00000249910.1:c.939delA p.Glu314LysfsTer4 p.E314Kfs*4 ENST00000249910 313 aaA/aa 0 -MTTP UCSF GRCh37 4 100521799 100521799 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 125 31 125 0 ENST00000265517.5:c.1145A>G p.Lys382Arg p.K382R ENST00000265517 382 aAa/aGa 0 -MUC4 UCSF GRCh37 3 195506723 195506770 + inframe_deletion In_Frame_Del DEL TGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAG TGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAG - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 8 0 ENST00000463781.3:c.11691_11738del p.Arg3900_Thr3915del p.R3900_T3915del ENST00000463781 NM_018406.6 3894 aCTTCCTCAGCATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACAct/act 0 -MUC5B UCSF GRCh37 11 1253980 1253980 + missense_variant Missense_Mutation SNP A A G 1000g2010nov_all_0.103,snp132_rs115853043 P04_Rec3 Untested WXS Illumina HiSeq 10 4 15 1 ENST00000529681.1:c.2045A>G p.Asp682Gly p.D682G ENST00000529681 NM_002458.2 682 gAc/gGc 0 -PHRF1 UCSF GRCh37 11 587424 587424 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 66 37 99 0 ENST00000264555.5:c.380C>G p.Ala127Gly p.A127G ENST00000264555 NM_020901.2 127 gCc/gGc 0 -PSAP UCSF GRCh37 10 73579333 73579334 + frameshift_variant Frame_Shift_Ins INS - - CTTG NOVEL P04_Rec3 Untested WXS Illumina HiSeq 32 0 ENST00000394936.3:c.1238_1239insCAAG p.Lys413AsnfsTer26 p.K413Nfs*26 ENST00000394936 413 aag/aaCAAGg 0 -RFC3 UCSF GRCh37 13 34398063 34398063 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 6 0 ENST00000380071.3:c.244delA p.Ile82LeufsTer25 p.I82Lfs*25 ENST00000380071 NM_002915.3 79 Aaa/aa 0 -SH3TC1 UCSF GRCh37 4 8242506 8242509 + frameshift_variant Frame_Shift_Del DEL ATCT ATCT - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 11 0 ENST00000245105.3:c.3836_3839del p.Ile1279ThrfsTer96 p.I1279Tfs*96 ENST00000245105 NM_018986.3 1279 ATCTac/ac 0 -SLC9A4 UCSF GRCh37 2 103148842 103148842 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 91 53 142 0 ENST00000295269.4:c.2092C>T p.Arg698Trp p.R698W ENST00000295269 NM_001011552.3 698 Cgg/Tgg 0 -SLCO1B7 UCSF GRCh37 12 21200142 21200142 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 70 0 ENST00000421593.2:c.989del p.Leu330CysfsTer28 p.L330Cfs*28 ENST00000421593 NM_001009562.4 329 Ttt/tt 0 -SNRPB UCSF GRCh37 20 2443747 2443747 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 65 48 103 0 ENST00000438552.2:c.547G>A p.Ala183Thr p.A183T ENST00000438552 NM_198216.1 183 Gca/Aca 0 -SORCS1 UCSF GRCh37 10 108431048 108431048 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 16 0 ENST00000263054.6:c.2136del p.Tyr712Ter p.Y712* ENST00000263054 NM_001206570.1 712 taT/ta 0 -SPIRE1 UCSF GRCh37 18 12449679 12449679 + synonymous_variant Silent SNP G G C NOVEL P04_Rec3 somatic WXS Sanger Illumina HiSeq 49 49 96 0 ENST00000409402.4:c.2229C>G p.Pro743= p.P743= ENST00000409402 NM_001128626.1 743 ccC/ccG 0 -TEAD3 UCSF GRCh37 6 35454288 35454288 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 29 35 51 0 ENST00000338863.7:c.152C>T p.Pro51Leu p.P51L ENST00000338863 NM_003214.3 51 cCg/cTg 0 -TP53 UCSF GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T snp132_rs11540652 P04_Rec3 somatic WXS Sanger Illumina HiSeq 7 43 41 0 ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 -UBQLNL UCSF GRCh37 11 5536309 5536309 + missense_variant Missense_Mutation SNP G G C 1000g2010nov_all_0.027,1000g2011may_all_0.04739,snp132_rs12223282 P04_Rec3 Untested WXS Illumina HiSeq 83 84 133 0 ENST00000380184.1:c.1363C>G p.Gln455Glu p.Q455E ENST00000380184 NM_145053.4 455 Cag/Gag 0 -USP24 UCSF GRCh37 1 55591187 55591187 + synonymous_variant Silent SNP A A G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 210 39 182 0 ENST00000294383.6:c.3766T>C p.Leu1256= p.L1256= ENST00000294383 NM_015306.2 1256 Tta/Cta 0 -WDR72 UCSF GRCh37 15 54004993 54004993 + synonymous_variant Silent SNP C C T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 77 57 93 0 ENST00000360509.5:c.687G>A p.Leu229= p.L229= ENST00000360509 229 ttG/ttA 0 -WWC3 UCSF GRCh37 X 10046914 10046914 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL G G - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 27 0 ENST00000380861.4:c.297+1del R99fs ENST00000380861 NM_015691.3 99 aGg/ag 0 -ZNF107 UCSF GRCh37 7 64167377 64167377 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 90 58 128 0 ENST00000344930.3:c.695C>G p.Thr232Ser p.T232S ENST00000344930 NM_001013746.1 232 aCt/aGt 0 -ZNF135 UCSF GRCh37 19 58579378 58579378 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Rec3 Untested WXS Illumina HiSeq 148 27 145 1 ENST00000313434.5:c.1526T>C p.Leu509Pro p.L509P ENST00000313434 NM_003436.3 509 cTc/cCc 0 -ZZEF1 UCSF GRCh37 17 3917753 3917753 + stop_gained Nonsense_Mutation SNP G G T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 128 33 115 0 ENST00000381638.2:c.8202C>A p.Cys2734Ter p.C2734* ENST00000381638 NM_015113.3 2734 tgC/tgA 0 -AHCYL1 UCSF GRCh37 1 110561727 110561727 + missense_variant Missense_Mutation SNP A A C snp132_rs75754234 P05_Pri Untested WXS Illumina HiSeq 36 7 56 1 ENST00000369799.5:c.1372A>C p.Thr458Pro p.T458P ENST00000369799 NM_001242674.1 458 Aca/Cca 0 -ARID2 UCSF GRCh37 12 46244079 46244079 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Pri Untested WXS Illumina HiSeq 63 27 100 0 ENST00000334344.6:c.2173C>T p.Gln725Ter p.Q725* ENST00000334344 NM_152641.2 725 Cag/Tag 0 -ATAD5 UCSF GRCh37 17 29219740 29219740 + missense_variant Missense_Mutation SNP T T G snp132_rs74661926 P05_Pri Untested WXS Illumina HiSeq 61 15 101 0 ENST00000321990.4:c.4374T>G p.Cys1458Trp p.C1458W ENST00000321990 NM_024857.3 1458 tgT/tgG 0 -ATRX UCSF GRCh37 X 76890167 76890167 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Pri somatic WXS Sanger Illumina HiSeq 44 23 140 0 ENST00000373344.5:c.4727G>A p.Cys1576Tyr p.C1576Y ENST00000373344 NM_000489.3 1576 tGt/tAt 0 -ATRX UCSF GRCh37 X 76875979 76875979 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Pri Untested WXS Illumina HiSeq 52 9 54 0 ENST00000373344.5:c.5156A>G p.Asp1719Gly p.D1719G ENST00000373344 NM_000489.3 1719 gAt/gGt 0 -C6orf103 UCSF GRCh37 6 147012388 147012388 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 74 32 122 0 ENST00000397944.3:c.1448G>A p.Arg483His p.R483H ENST00000397944 NM_024694.3 483 cGt/cAt 0 -C7orf63 UCSF GRCh37 7 89906426 89906426 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Pri Untested WXS Illumina HiSeq 60 29 24 0 ENST00000389297.4:c.1024T>C p.Phe342Leu p.F342L ENST00000389297 NM_001039706.2 342 Ttt/Ctt 0 -CASP12 UCSF GRCh37 11 104761174 104761174 + synonymous_variant Silent SNP A A G NOVEL P05_Pri Untested WXS Illumina HiSeq 32 4 36 1 ENST00000422698.2:c.744T>C p.Gly248= p.G248= ENST00000422698 NM_001191016.1 248 ggT/ggC 0 -CCNC UCSF GRCh37 6 99993044 99993044 + synonymous_variant Silent SNP T T C NOVEL P05_Pri Untested WXS Illumina HiSeq 67 19 49 0 ENST00000520429.1:c.741A>G p.Arg247= p.R247= ENST00000520429 NM_005190.3 247 agA/agG 0 -CEACAM6 UCSF GRCh37 19 42260811 42260811 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P05_Pri Untested WXS Illumina HiSeq 38 0 ENST00000199764.6:c.369del p.Val124SerfsTer2 p.V124Sfs*2 ENST00000199764 NM_002483.4 123 cAa/ca 0 -CELA3B UCSF GRCh37 1 22310235 22310235 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.009,snp132_rs113497474 P05_Pri Untested WXS Illumina HiSeq 17 4 62 1 ENST00000337107.6:c.411C>T p.Asp137= p.D137= ENST00000337107 NM_007352.2 137 gaC/gaT 0 -CIT UCSF GRCh37 12 120148087 120148087 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Pri Untested WXS Illumina HiSeq 60 18 99 0 ENST00000261833.7:c.4914C>G p.Ile1638Met p.I1638M ENST00000261833 NM_007174.2 1638 atC/atG 0 -CLK2 UCSF GRCh37 1 155238508 155238508 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Pri Untested WXS Illumina HiSeq 24 8 27 1 ENST00000368361.4:c.478C>A p.Gln160Lys p.Q160K ENST00000368361 160 Caa/Aaa 0 -CNNM2 UCSF GRCh37 10 104679671 104679671 + stop_gained Nonsense_Mutation SNP C C A NOVEL P05_Pri Untested WXS Illumina HiSeq 43 9 52 0 ENST00000369878.4:c.1434C>A p.Tyr478Ter p.Y478* ENST00000369878 NM_017649.4 478 taC/taA 0 -CSMD3 UCSF GRCh37 8 113326817 113326817 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Pri Untested WXS Illumina HiSeq 44 11 53 1 ENST00000297405.5:c.7390G>A p.Asp2464Asn p.D2464N ENST00000297405 NM_198123.1 2464 Gat/Aat 0 -FGF9 UCSF GRCh37 13 22246317 22246317 + missense_variant Missense_Mutation SNP A A C snp132_rs117849081 P05_Pri Untested WXS Illumina HiSeq 9 6 56 1 ENST00000382353.5:c.266A>C p.His89Pro p.H89P ENST00000382353 NM_002010.2 89 cAc/cCc 0 -GPC3 UCSF GRCh37 X 132888089 132888089 + missense_variant Missense_Mutation SNP T T A NOVEL P05_Pri Untested WXS Illumina HiSeq 52 18 157 0 ENST00000370818.3:c.452A>T p.Asp151Val p.D151V ENST00000370818 NM_001164618.1 151 gAt/gTt 0 -HHLA1 UCSF GRCh37 8 133092007 133092007 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Pri Untested WXS Illumina HiSeq 12 11 15 1 ENST00000414222.1:c.883A>C p.Thr295Pro p.T295P ENST00000414222 NM_001145095.1 295 Aca/Cca 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Pri Untested WXS Illumina HiSeq 40 24 75 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL1R1 UCSF GRCh37 2 102785059 102785059 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 44 18 57 0 ENST00000410023.1:c.657G>A p.Glu219= p.E219= ENST00000410023 219 gaG/gaA 0 -LRRC33 UCSF GRCh37 3 196388593 196388593 + stop_lost Nonstop_Mutation SNP A A G NOVEL P05_Pri Untested WXS Illumina HiSeq 16 3 35 0 ENST00000328557.4:c.2079A>G p.Ter693TrpextTer25 p.*693Wext*25 ENST00000328557 NM_198565.1 693 tgA/tgG 0 -LYVE1 UCSF GRCh37 11 10582206 10582206 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 50 16 85 0 ENST00000256178.3:c.539C>T p.Ala180Val p.A180V ENST00000256178 NM_006691.3 180 gCc/gTc 0 -MAGEC1 UCSF GRCh37 X 140994085 140994085 + missense_variant Missense_Mutation SNP C C G 1000g2010nov_all_0.09062,1000g2011may_all_0.1531,snp132_rs176046 P05_Pri Untested WXS Illumina HiSeq 44 8 43 0 ENST00000285879.4:c.895C>G p.Pro299Ala p.P299A ENST00000285879 NM_005462.4 299 Ccc/Gcc 0 -MAP2 UCSF GRCh37 2 210569173 210569173 + intron_variant Intron SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 50 10 45 1 ENST00000360351.4:c.4585-1131G>A *1529* ENST00000360351 NM_002374.3 0 -NR1I3 UCSF GRCh37 1 161203098 161203098 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Pri Untested WXS Illumina HiSeq 27 7 72 0 ENST00000367982.4:c.269G>A p.Arg90Gln p.R90Q ENST00000367982 90 cGg/cAg 0 -PCDH17 UCSF GRCh37 13 58298890 58298890 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Pri Untested WXS Illumina HiSeq 58 11 83 0 ENST00000377918.3:c.2942A>C p.Asn981Thr p.N981T ENST00000377918 NM_001040429.2 981 aAt/aCt 0 -PRDM5 UCSF GRCh37 4 121698436 121698436 + missense_variant,splice_region_variant Missense_Mutation SNP T T C NOVEL P05_Pri Untested WXS Illumina HiSeq 56 10 68 0 ENST00000264808.3:c.1444A>G p.Thr482Ala p.T482A ENST00000264808 NM_018699.2 482 Aca/Gca 0 -PRR14 UCSF GRCh37 16 30664057 30664057 + missense_variant Missense_Mutation SNP T T A NOVEL P05_Pri Untested WXS Illumina HiSeq 11 5 44 0 ENST00000300835.4:c.208T>A p.Ser70Thr p.S70T ENST00000300835 NM_024031.2 70 Tca/Aca 0 -PZP UCSF GRCh37 12 9345272 9345272 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.00093 P05_Pri Untested WXS Illumina HiSeq 28 7 88 0 ENST00000261336.2:c.1318G>A p.Ala440Thr p.A440T ENST00000261336 NM_002864.2 440 Gct/Act 0 -SCN11A UCSF GRCh37 3 38888584 38888584 + synonymous_variant Silent SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 83 21 128 0 ENST00000302328.3:c.4977C>T p.Val1659= p.V1659= ENST00000302328 NM_014139.2 1659 gtC/gtT 0 -TSHZ3 UCSF GRCh37 19 31767507 31767507 + synonymous_variant Silent SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 43 18 58 0 ENST00000240587.4:c.3192C>T p.His1064= p.H1064= ENST00000240587 NM_020856.2 1064 caC/caT 0 -TSPEAR UCSF GRCh37 21 45945556 45945556 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 31 18 73 0 ENST00000323084.4:c.1316C>T p.Ala439Val p.A439V ENST00000323084 NM_001272037.1 439 gCg/gTg 0 -UNC13C UCSF GRCh37 15 54307971 54307971 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Pri Untested WXS Illumina HiSeq 19 12 39 0 ENST00000260323.11:c.2871A>C p.Glu957Asp p.E957D ENST00000260323 NM_001080534.1 957 gaA/gaC 0 -VIT UCSF GRCh37 2 37041424 37041424 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 23 4 71 0 ENST00000389975.3:c.1957G>A p.Glu653Lys p.E653K ENST00000389975 NM_001177970.1 653 Gag/Aag 0 -ZFAND2B UCSF GRCh37 2 220072104 220072104 + synonymous_variant Silent SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 12 5 47 0 ENST00000289528.5:c.111G>A p.Val37= p.V37= ENST00000289528 NM_001270999.1 37 gtG/gtA 0 -ZNF485 UCSF GRCh37 10 44104090 44104090 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Pri Untested WXS Illumina HiSeq 28 12 58 2 ENST00000361807.3:c.53T>G p.Val18Gly p.V18G ENST00000361807 NM_145312.3 18 gTg/gGg 0 -A2M UCSF GRCh37 12 9264996 9264996 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 131 73 139 0 ENST00000318602.7:c.407C>T p.Ser136Leu p.S136L ENST00000318602 NM_000014.4 136 tCa/tTa 0 -A4GNT UCSF GRCh37 3 137849742 137849742 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 40 87 0 ENST00000236709.3:c.357G>A p.Leu119= p.L119= ENST00000236709 NM_016161.2 119 ttG/ttA 0 -AAMP UCSF GRCh37 2 219131667 219131667 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 63 68 0 ENST00000248450.4:c.437C>T p.Ser146Phe p.S146F ENST00000248450 146 tCc/tTc 0 -AANAT UCSF GRCh37 17 74464874 74464874 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 6 11 0 ENST00000392492.3:c.46C>T p.Leu16= p.L16= ENST00000392492 NM_001088.2 16 Ctg/Ttg 0 -AARS UCSF GRCh37 16 70298924 70298924 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 25 34 0 ENST00000261772.8:c.1429G>A p.Gly477Ser p.G477S ENST00000261772 NM_001605.2 477 Ggt/Agt 0 -AASDH UCSF GRCh37 4 57204659 57204659 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 37 58 0 ENST00000205214.6:c.3206C>T p.Ser1069Phe p.S1069F ENST00000205214 NM_181806.2 1069 tCt/tTt 0 -AASS UCSF GRCh37 7 121773620 121773620 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 32 93 0 ENST00000393376.1:c.161G>A p.Gly54Glu p.G54E ENST00000393376 54 gGa/gAa 0 -ABCA1 UCSF GRCh37 9 107547804 107547804 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 72 50 72 0 ENST00000374736.3:c.6518G>A p.Arg2173Gln p.R2173Q ENST00000374736 NM_005502.3 2173 cGg/cAg 0 -ABCA12 UCSF GRCh37 2 215891637 215891637 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 163 108 103 0 ENST00000272895.7:c.1087G>A p.Asp363Asn p.D363N ENST00000272895 NM_173076.2 363 Gat/Aat 0 -ABCA13 UCSF GRCh37 7 48414007 48414007 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 123 48 102 0 ENST00000435803.1:c.11197G>A p.Glu3733Lys p.E3733K ENST00000435803 NM_152701.3 3733 Gag/Aag 0 -ABCA4 UCSF GRCh37 1 94546147 94546147 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 49 95 0 ENST00000370225.3:c.986G>A p.Gly329Glu p.G329E ENST00000370225 NM_000350.2 329 gGa/gAa 0 -ABCA9 UCSF GRCh37 17 66982360 66982360 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 29 61 0 ENST00000340001.4:c.4153G>A p.Val1385Met p.V1385M ENST00000340001 NM_080283.3 1385 Gtg/Atg 0 -ABCB4 UCSF GRCh37 7 87051535 87051535 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 7 44 0 ENST00000265723.4:c.2218G>A p.Gly740Arg p.G740R ENST00000265723 NM_000443.3 740 Gga/Aga 0 -ABCC12 UCSF GRCh37 16 48138152 48138152 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 206 78 126 0 ENST00000311303.3:c.2801T>G p.Phe934Cys p.F934C ENST00000311303 NM_033226.2 934 tTt/tGt 0 -ABCF3 UCSF GRCh37 3 183906749 183906749 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 33 56 0 ENST00000429586.2:c.950C>T p.Thr317Ile p.T317I ENST00000429586 NM_018358.2 317 aCc/aTc 0 -ABHD12 UCSF GRCh37 20 25304020 25304020 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 80 38 74 0 ENST00000339157.5:c.363T>C p.Gly121= p.G121= ENST00000339157 NM_001042472.2 121 ggT/ggC 0 -ABHD16B UCSF GRCh37 20 62493648 62493648 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 15 9 0 ENST00000369916.3:c.755C>T p.Thr252Met p.T252M ENST00000369916 NM_080622.3 252 aCg/aTg 0 -ABHD6 UCSF GRCh37 3 58242354 58242354 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 132 36 66 0 ENST00000295962.4:c.41G>A p.Gly14Asp p.G14D ENST00000295962 NM_020676.5 14 gGc/gAc 0 -ABI3 UCSF GRCh37 17 47297537 47297537 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 5 12 0 ENST00000225941.1:c.651C>T p.Ala217= p.A217= ENST00000225941 NM_016428.2 217 gcC/gcT 0 -ACACB UCSF GRCh37 12 109679082 109679082 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 163 66 79 0 ENST00000338432.7:c.5018G>A p.Gly1673Glu p.G1673E ENST00000338432 1673 gGa/gAa 0 -ACACB UCSF GRCh37 12 109650679 109650679 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 128 37 84 0 ENST00000338432.7:c.3288G>A p.Gln1096= p.Q1096= ENST00000338432 1096 caG/caA 0 -ACAD10 UCSF GRCh37 12 112167638 112167638 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 14 49 0 ENST00000313698.4:c.1272C>T p.Thr424= p.T424= ENST00000313698 NM_025247.5 424 acC/acT 0 -ACADVL UCSF GRCh37 17 7125571 7125571 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 41 86 0 ENST00000356839.5:c.828G>A p.Lys276= p.K276= ENST00000356839 NM_001270448.1 276 aaG/aaA 0 -ACAN UCSF GRCh37 15 89390536 89390536 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 12 10 0 ENST00000439576.2:c.1492C>T p.Gln498Ter p.Q498* ENST00000439576 NM_013227.3 498 Cag/Tag 0 -ACAN UCSF GRCh37 15 89395258 89395258 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 30 53 0 ENST00000439576.2:c.2260C>T p.Leu754= p.L754= ENST00000439576 NM_013227.3 754 Ctg/Ttg 0 -ACAN UCSF GRCh37 15 89416168 89416168 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 28 54 0 ENST00000439576.2:c.7245C>T p.Asp2415= p.D2415= ENST00000439576 NM_013227.3 2415 gaC/gaT 0 -ACCN3 UCSF GRCh37 7 150747871 150747871 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 95 24 26 0 ENST00000349064.5:c.840C>T p.Gly280= p.G280= ENST00000349064 NM_004769.3 280 ggC/ggT 0 -ACCN4 UCSF GRCh37 2 220379918 220379918 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 70 49 24 0 ENST00000347842.3:c.853C>T p.Pro285Ser p.P285S ENST00000347842 NM_182847.2 285 Cca/Tca 0 -ACE2 UCSF GRCh37 X 15599355 15599355 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 39 74 146 0 ENST00000252519.3:c.1059G>A p.Lys353= p.K353= ENST00000252519 353 aaG/aaA 0 -ACO2 UCSF GRCh37 22 41903918 41903918 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 17 32 22 0 ENST00000216254.4:c.297G>A p.Gln99= p.Q99= ENST00000216254 NM_001098.2 99 caG/caA 0 -ACOT12 UCSF GRCh37 5 80626242 80626242 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 21 71 0 ENST00000307624.3:c.1639C>T p.Pro547Ser p.P547S ENST00000307624 NM_130767.2 547 Cct/Tct 0 -ACP6 UCSF GRCh37 1 147126370 147126370 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 37 76 0 ENST00000369238.6:c.719G>A p.Gly240Asp p.G240D ENST00000369238 NM_016361.4 240 gGc/gAc 0 -ACSL6 UCSF GRCh37 5 131323748 131323748 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 59 120 0 ENST00000379240.1:c.749C>T p.Ala250Val p.A250V ENST00000379240 250 gCc/gTc 0 -ACTN4 UCSF GRCh37 19 39218666 39218666 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 24 22 10 0 ENST00000252699.2:c.2418G>A p.Gln806= p.Q806= ENST00000252699 NM_004924.4 806 caG/caA 0 -ACTR1B UCSF GRCh37 2 98275454 98275454 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 137 64 71 0 ENST00000289228.5:c.328C>T p.Leu110Phe p.L110F ENST00000289228 NM_005735.3 110 Ctc/Ttc 0 -ACTR3B UCSF GRCh37 7 152497666 152497666 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 266 87 208 0 ENST00000256001.8:c.151G>A p.Val51Met p.V51M ENST00000256001 NM_020445.5 51 Gtg/Atg 0 -ACVR2A UCSF GRCh37 2 148657339 148657339 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 177 104 251 0 ENST00000241416.7:c.400C>T p.Pro134Ser p.P134S ENST00000241416 NM_001616.4 134 Cca/Tca 0 -ACVR2B UCSF GRCh37 3 38523998 38523998 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 7 19 0 ENST00000352511.4:c.1291G>A p.Val431Met p.V431M ENST00000352511 NM_001106.3 431 Gtg/Atg 0 -ADAM22 UCSF GRCh37 7 87762229 87762229 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 19 46 0 ENST00000265727.7:c.1040G>A p.Gly347Glu p.G347E ENST00000265727 347 gGg/gAg 0 -ADAM23 UCSF GRCh37 2 207426926 207426926 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 199 124 201 0 ENST00000264377.3:c.1255-1G>A p.X419_splice ENST00000264377 NM_003812.3 0 -ADAMTS12 UCSF GRCh37 5 33561169 33561169 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 60 84 0 ENST00000504830.1:c.4088G>A p.Arg1363His p.R1363H ENST00000504830 NM_030955.2 1363 cGt/cAt 0 -ADAMTS14 UCSF GRCh37 10 72520286 72520286 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 38 41 0 ENST00000373207.1:c.3349C>T p.Pro1117Ser p.P1117S ENST00000373207 NM_080722.3 1117 Cct/Tct 0 -ADAMTS9 UCSF GRCh37 3 64666961 64666961 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 20 37 0 ENST00000498707.1:c.595G>A p.Glu199Lys p.E199K ENST00000498707 NM_182920.1 199 Gaa/Aaa 0 -ADAMTSL3 UCSF GRCh37 15 84611718 84611718 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 33 32 0 ENST00000286744.5:c.2374G>A p.Asp792Asn p.D792N ENST00000286744 NM_207517.2 792 Gat/Aat 0 -ADCY10 UCSF GRCh37 1 167815414 167815414 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 61 109 0 ENST00000367851.4:c.2525C>T p.Thr842Ile p.T842I ENST00000367851 NM_018417.4 842 aCt/aTt 0 -ADCY2 UCSF GRCh37 5 7717290 7717290 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 32 47 0 ENST00000338316.4:c.1643G>A p.Arg548Lys p.R548K ENST00000338316 NM_020546.2 548 aGa/aAa 0 -ADCY7 UCSF GRCh37 16 50348926 50348926 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 139 136 104 0 ENST00000254235.3:c.2973C>T p.Gly991= p.G991= ENST00000254235 NM_001114.3 991 ggC/ggT 0 -ADD2 UCSF GRCh37 2 70904949 70904949 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 47 58 0 ENST00000264436.4:c.1444C>T p.Pro482Ser p.P482S ENST00000264436 NM_001617.3 482 Cca/Tca 0 -ADORA1 UCSF GRCh37 1 203134985 203134985 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 40 53 0 ENST00000309502.3:c.938C>T p.Pro313Leu p.P313L ENST00000309502 313 cCt/cTt 0 -ADRA2B UCSF GRCh37 2 96781752 96781752 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 21 8 0 ENST00000409345.3:c.137C>T p.Pro46Leu p.P46L ENST00000409345 NM_000682.5 46 cCt/cTt 0 -AEBP1 UCSF GRCh37 7 44149871 44149871 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 22 35 0 ENST00000223357.3:c.1326G>A p.Gln442= p.Q442= ENST00000223357 NM_001129.4 442 caG/caA 0 -AFF3 UCSF GRCh37 2 100210059 100210059 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 136 88 43 0 ENST00000409236.2:c.2064C>T p.Tyr688= p.Y688= ENST00000409236 688 taC/taT 0 -AGAP11 UCSF GRCh37 10 88768200 88768200 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 115 270 1 ENST00000433214.2:n.1395G>A *465* ENST00000433214 0 -AGBL2 UCSF GRCh37 11 47707481 47707481 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 53 139 0 ENST00000525123.1:c.1752C>T p.Val584= p.V584= ENST00000525123 NM_024783.3 584 gtC/gtT 0 -AGK UCSF GRCh37 7 141352686 141352686 + splice_region_variant,intron_variant,non_coding_transcript_variant Splice_Region SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 171 57 74 0 ENST00000467537.1:n.268-3T>G p.X90_splice ENST00000467537 0 -AGL UCSF GRCh37 1 100316681 100316681 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 52 71 0 ENST00000294724.4:c.82+1G>A p.X28_splice ENST00000294724 NM_000028.2 0 -AGPAT2 UCSF GRCh37 9 139571054 139571054 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 30 20 0 ENST00000371696.2:c.571C>T p.Leu191= p.L191= ENST00000371696 NM_006412.3 191 Ctg/Ttg 0 -AHRR UCSF GRCh37 5 434260 434260 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 34 24 0 ENST00000505113.1:c.1417C>T p.Arg473Trp p.R473W ENST00000505113 NM_001242412.1 473 Cgg/Tgg 0 -AHRR UCSF GRCh37 5 427752 427752 + intron_variant Intron SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 100 51 33 0 ENST00000505113.1:c.721-170G>A *241* ENST00000505113 NM_001242412.1 0 -AHSA1 UCSF GRCh37 14 77929093 77929093 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 29 66 0 ENST00000216479.3:c.463C>T p.Leu155Phe p.L155F ENST00000216479 NM_012111.2 155 Ctc/Ttc 0 -AIFM1 UCSF GRCh37 X 129281803 129281803 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 76 155 0 ENST00000287295.3:c.398C>T p.Pro133Leu p.P133L ENST00000287295 NM_004208.3 133 cCt/cTt 0 -AIPL1 UCSF GRCh37 17 6329947 6329947 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 23 18 0 ENST00000381129.3:c.772C>T p.Arg258Trp p.R258W ENST00000381129 NM_014336.3 258 Cgg/Tgg 0 -AIPL1 UCSF GRCh37 17 6329972 6329972 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 32 21 0 ENST00000381129.3:c.747G>A p.Val249= p.V249= ENST00000381129 NM_014336.3 249 gtG/gtA 0 -AK7 UCSF GRCh37 14 96953269 96953269 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 14 42 0 ENST00000267584.4:c.2009G>A p.Arg670Lys p.R670K ENST00000267584 NM_152327.3 670 aGa/aAa 0 -AKAP8 UCSF GRCh37 19 15483797 15483797 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 29 19 11 0 ENST00000269701.2:c.726G>A p.Arg242= p.R242= ENST00000269701 NM_005858.3 242 cgG/cgA 0 -AKD1 UCSF GRCh37 6 109835578 109835578 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 35 94 0 ENST00000424296.2:c.4128C>T p.Ile1376= p.I1376= ENST00000424296 NM_001145128.2 1376 atC/atT 0 -AKNA UCSF GRCh37 9 117119143 117119143 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 48 54 0 ENST00000307564.4:c.2846G>A p.Ser949Asn p.S949N ENST00000307564 NM_030767.4 949 aGc/aAc 0 -AKNAD1 UCSF GRCh37 1 109395078 109395078 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 80 88 0 ENST00000370001.3:c.209C>T p.Thr70Ile p.T70I ENST00000370001 NM_152763.4 70 aCc/aTc 0 -AKNAD1 UCSF GRCh37 1 109385874 109385874 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 44 54 0 ENST00000370001.3:c.1261C>T p.Gln421Ter p.Q421* ENST00000370001 NM_152763.4 421 Cag/Tag 0 -ALCAM UCSF GRCh37 3 105260490 105260490 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 17 60 0 ENST00000306107.5:c.872G>A p.Gly291Glu p.G291E ENST00000306107 NM_001627.3 291 gGa/gAa 0 -ALDH4A1 UCSF GRCh37 1 19202840 19202840 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 61 31 31 0 ENST00000290597.5:c.1307G>A p.Ser436Asn p.S436N ENST00000290597 NM_170726.2 436 aGc/aAc 0 -ALDH4A1 UCSF GRCh37 1 19204034 19204034 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 24 19 9 0 ENST00000290597.5:c.1013G>A p.Arg338His p.R338H ENST00000290597 NM_170726.2 338 cGc/cAc 0 -ALG11 UCSF GRCh37 13 52598626 52598626 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 70 93 0 ENST00000521508.1:c.760G>A p.Val254Ile p.V254I ENST00000521508 NM_001004127.2 254 Gtc/Atc 0 -ALKBH3 UCSF GRCh37 11 43904246 43904246 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 8 26 36 0 ENST00000302708.4:c.44C>T p.Ala15Val p.A15V ENST00000302708 NM_139178.3 15 gCt/gTt 0 -ALMS1 UCSF GRCh37 2 73675096 73675096 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 20 38 66 0 ENST00000264448.6:c.1439C>T p.Thr480Ile p.T480I ENST00000264448 NM_015120.4 480 aCt/aTt 0 -ALOX15B UCSF GRCh37 17 7948887 7948887 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 25 35 0 ENST00000380183.4:c.1083C>T p.Arg361= p.R361= ENST00000380183 NM_001141.2 361 cgC/cgT 0 -ALOXE3 UCSF GRCh37 17 8020099 8020099 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 20 42 0 ENST00000448843.2:c.347G>A p.Gly116Glu p.G116E ENST00000448843 NM_021628.2 116 gGa/gAa 0 -ALOXE3 UCSF GRCh37 17 8014809 8014809 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 27 71 0 ENST00000448843.2:c.825G>A p.Gly275= p.G275= ENST00000448843 NM_021628.2 275 ggG/ggA 0 -ALPPL2 UCSF GRCh37 2 233274294 233274294 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 9 12 12 0 ENST00000295453.3:c.1311G>A p.Glu437= p.E437= ENST00000295453 NM_031313.2 437 gaG/gaA 0 -ALS2CR11 UCSF GRCh37 2 202359129 202359129 + intron_variant Intron SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 167 92 170 0 ENST00000286195.3:c.1581+1489G>A *527* ENST00000286195 NM_152525.5 0 -ALS2CR11 UCSF GRCh37 2 202359204 202359204 + intron_variant Intron SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 142 69 145 0 ENST00000286195.3:c.1581+1414T>G *527* ENST00000286195 NM_152525.5 0 -AMOTL2 UCSF GRCh37 3 134089737 134089737 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 18 23 0 ENST00000422605.2:c.539C>T p.Ser180Phe p.S180F ENST00000422605 180 tCc/tTc 0 -AMY2B UCSF GRCh37 1 104115845 104115845 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 217 135 218 0 ENST00000361355.4:c.476G>A p.Gly159Glu p.G159E ENST00000361355 NM_020978.4 159 gGa/gAa 0 -ANAPC5 UCSF GRCh37 12 121746438 121746438 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 108 40 109 0 ENST00000261819.3:c.2113G>A p.Asp705Asn p.D705N ENST00000261819 NM_016237.4 705 Gac/Aac 0 -ANK2 UCSF GRCh37 4 114294449 114294449 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 38 110 0 ENST00000357077.4:c.11703G>A p.Arg3901= p.R3901= ENST00000357077 NM_001148.4 3901 agG/agA 0 -ANKFY1 UCSF GRCh37 17 4074130 4074130 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 22 34 0 ENST00000341657.4:c.3165G>A p.Gly1055= p.G1055= ENST00000341657 NM_016376.3 1055 ggG/ggA 0 -ANKHD1 UCSF GRCh37 5 139908515 139908515 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 73 127 0 ENST00000360839.2:c.5984C>T p.Thr1995Ile p.T1995I ENST00000360839 NM_017747.2 1995 aCt/aTt 0 -ANKLE2 UCSF GRCh37 12 133324426 133324426 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 47 59 0 ENST00000357997.5:c.1222G>A p.Asp408Asn p.D408N ENST00000357997 NM_015114.1 408 Gac/Aac 0 -ANKRD1 UCSF GRCh37 10 92680047 92680047 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 82 157 0 ENST00000371697.3:c.86G>A p.Arg29Lys p.R29K ENST00000371697 NM_014391.2 29 aGa/aAa 0 -ANKRD11 UCSF GRCh37 16 89351166 89351166 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 108 42 59 0 ENST00000301030.4:c.1784G>A p.Arg595Lys p.R595K ENST00000301030 NM_001256183.1 595 aGg/aAg 0 -ANKRD11 UCSF GRCh37 16 89347886 89347886 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 255 96 39 0 ENST00000301030.4:c.5064C>T p.Val1688= p.V1688= ENST00000301030 NM_001256183.1 1688 gtC/gtT 0 -ANKRD11 UCSF GRCh37 16 89371699 89371699 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 112 29 20 0 ENST00000301030.4:c.141C>T p.Gly47= p.G47= ENST00000301030 NM_001256183.1 47 ggC/ggT 0 -ANKRD11 UCSF GRCh37 16 89341222 89341222 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 130 46 40 0 ENST00000301030.4:c.7713G>A p.Gln2571= p.Q2571= ENST00000301030 NM_001256183.1 2571 caG/caA 0 -ANKRD13A UCSF GRCh37 12 110456212 110456212 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 40 51 0 ENST00000261739.4:c.463C>T p.Leu155= p.L155= ENST00000261739 NM_033121.1 155 Ctg/Ttg 0 -ANKRD24 UCSF GRCh37 19 4216973 4216973 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 34 29 0 ENST00000318934.4:c.1816G>A p.Val606Ile p.V606I ENST00000318934 606 Gtc/Atc 0 -ANKRD46 UCSF GRCh37 8 101540115 101540115 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 33 75 0 ENST00000520552.1:c.428C>T p.Thr143Ile p.T143I ENST00000520552 NM_001270379.1 143 aCc/aTc 0 -ANKRD6 UCSF GRCh37 6 90333154 90333154 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 19 12 27 0 ENST00000339746.4:c.923C>T p.Pro308Leu p.P308L ENST00000339746 NM_001242809.1 308 cCc/cTc 0 -ANLN UCSF GRCh37 7 36455449 36455449 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 195 70 100 0 ENST00000265748.2:c.1478C>T p.Thr493Ile p.T493I ENST00000265748 NM_018685.2 493 aCc/aTc 0 -ANO10 UCSF GRCh37 3 43647213 43647213 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P05_Rec Untested WXS Illumina HiSeq 10 0 ENST00000292246.3:c.132delA p.Asp45MetfsTer12 p.D45Mfs*12 ENST00000292246 NM_018075.3 44 aaA/aa 0 -ANO2 UCSF GRCh37 12 5963241 5963241 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 143 76 141 0 ENST00000356134.5:c.589G>A p.Glu197Lys p.E197K ENST00000356134 197 Gaa/Aaa 0 -AOC3 UCSF GRCh37 17 41006513 41006513 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 22 30 0 ENST00000308423.2:c.1649C>T p.Ala550Val p.A550V ENST00000308423 NM_003734.3 550 gCt/gTt 0 -AP1AR UCSF GRCh37 4 113186173 113186173 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 108 55 94 0 ENST00000274000.5:c.390G>A p.Arg130= p.R130= ENST00000274000 NM_018569.4 130 agG/agA 0 -AP1M1 UCSF GRCh37 19 16314331 16314331 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 32 40 0 ENST00000291439.3:c.104C>T p.Pro35Leu p.P35L ENST00000291439 NM_032493.3 35 cCc/cTc 0 -APCDD1 UCSF GRCh37 18 10485656 10485656 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 32 45 0 ENST00000355285.5:c.972C>T p.Gly324= p.G324= ENST00000355285 NM_153000.4 324 ggC/ggT 0 -APCDD1L UCSF GRCh37 20 57042262 57042262 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 15 12 0 ENST00000371149.3:c.641G>A p.Arg214Gln p.R214Q ENST00000371149 NM_153360.1 214 cGg/cAg 0 -APEX2 UCSF GRCh37 X 55033194 55033194 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 51 20 30 0 ENST00000374987.3:c.883C>T p.Leu295= p.L295= ENST00000374987 NM_014481.3 295 Ctg/Ttg 0 -APOA2 UCSF GRCh37 1 161192746 161192746 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 32 63 0 ENST00000367990.3:c.147G>A p.Met49Ile p.M49I ENST00000367990 NM_001643.1 49 atG/atA 0 -APOB UCSF GRCh37 2 21232717 21232717 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 58 119 0 ENST00000233242.1:c.7023C>T p.Val2341= p.V2341= ENST00000233242 NM_000384.2 2341 gtC/gtT 0 -APOC3 UCSF GRCh37 11 116701560 116701560 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 28 11 14 0 ENST00000227667.3:c.127G>A p.Ala43Thr p.A43T ENST00000227667 NM_000040.1 43 Gcc/Acc 0 -APOF UCSF GRCh37 12 56755627 56755627 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 41 71 0 ENST00000398189.3:c.363G>A p.Gln121= p.Q121= ENST00000398189 NM_001638.2 121 caG/caA 0 -APOL2 UCSF GRCh37 22 36624040 36624040 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 22 65 0 ENST00000249066.6:c.424G>A p.Glu142Lys p.E142K ENST00000249066 NM_145637.1 142 Gaa/Aaa 0 -APOL5 UCSF GRCh37 22 36123218 36123218 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 30 41 0 ENST00000249044.2:c.1103G>A p.Gly368Glu p.G368E ENST00000249044 NM_030642.1 368 gGa/gAa 0 -APTX UCSF GRCh37 9 32987663 32987663 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 118 59 128 0 ENST00000379819.1:c.404G>A p.Ser135Asn p.S135N ENST00000379819 135 aGt/aAt 0 -AQP12B UCSF GRCh37 2 241622083 241622083 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 12 48 23 0 ENST00000407834.3:c.172G>A p.Val58Ile p.V58I ENST00000407834 NM_001102467.1 58 Gtc/Atc 0 -AR UCSF GRCh37 X 66863097 66863097 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 34 65 0 ENST00000374690.3:c.1617-1G>A p.X539_splice ENST00000374690 NM_000044.3 0 -ARAP1 UCSF GRCh37 11 72415292 72415292 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 37 9 0 ENST00000393609.3:c.1897C>T p.Pro633Ser p.P633S ENST00000393609 NM_001040118.2 633 Ccc/Tcc 0 -ARAP3 UCSF GRCh37 5 141033718 141033718 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 7 17 38 0 ENST00000239440.4:c.4434G>A p.Arg1478= p.R1478= ENST00000239440 NM_022481.5 1478 cgG/cgA 0 -ARC UCSF GRCh37 8 143694837 143694837 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 97 38 37 0 ENST00000356613.2:c.796G>A p.Glu266Lys p.E266K ENST00000356613 NM_015193.4 266 Gag/Aag 0 -ARFGEF1 UCSF GRCh37 8 68179357 68179357 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 42 77 0 ENST00000262215.3:c.1781G>A p.Gly594Asp p.G594D ENST00000262215 NM_006421.4 594 gGc/gAc 0 -ARGLU1 UCSF GRCh37 13 107211856 107211856 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 146 28 168 0 ENST00000400198.3:c.497G>A p.Arg166His p.R166H ENST00000400198 NM_018011.3 166 cGc/cAc 0 -ARHGAP20 UCSF GRCh37 11 110450171 110450171 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 98 60 95 0 ENST00000260283.4:c.3499G>A p.Glu1167Lys p.E1167K ENST00000260283 NM_020809.3 1167 Gag/Aag 0 -ARHGAP20 UCSF GRCh37 11 110453055 110453055 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 142 75 125 0 ENST00000260283.4:c.1710G>A p.Glu570= p.E570= ENST00000260283 NM_020809.3 570 gaG/gaA 0 -ARHGEF10L UCSF GRCh37 1 17948377 17948377 + missense_variant Missense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 59 48 30 0 ENST00000361221.3:c.961C>G p.Leu321Val p.L321V ENST00000361221 NM_018125.3 321 Ctg/Gtg 0 -ARHGEF15 UCSF GRCh37 17 8219385 8219385 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 14 14 0 ENST00000361926.3:c.1623C>T p.Leu541= p.L541= ENST00000361926 NM_173728.3 541 ctC/ctT 0 -ARHGEF18 UCSF GRCh37 19 7535023 7535023 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 55 46 0 ENST00000359920.6:c.3361C>T p.Pro1121Ser p.P1121S ENST00000359920 NM_001130955.1 1121 Ccc/Tcc 0 -ARHGEF2 UCSF GRCh37 1 155935434 155935434 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 46 49 0 ENST00000361247.4:c.458C>T p.Thr153Ile p.T153I ENST00000361247 NM_001162384.1 153 aCc/aTc 0 -ARHGEF25 UCSF GRCh37 12 58008323 58008323 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 32 50 0 ENST00000286494.4:c.751G>A p.Val251Met p.V251M ENST00000286494 NM_182947.3 251 Gtg/Atg 0 -ARHGEF40 UCSF GRCh37 14 21542414 21542414 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 37 47 0 ENST00000298694.4:c.525G>A p.Arg175= p.R175= ENST00000298694 NM_001278529.1 175 cgG/cgA 0 -ARID1A UCSF GRCh37 1 27092831 27092831 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 42 70 0 ENST00000324856.7:c.2852G>A p.Gly951Asp p.G951D ENST00000324856 NM_006015.4 951 gGt/gAt 0 -ARID1B UCSF GRCh37 6 157522031 157522031 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 70 47 27 0 ENST00000350026.5:c.4264C>T p.Pro1422Ser p.P1422S ENST00000350026 NM_017519.2 1422 Ccg/Tcg 0 -ARL4A UCSF GRCh37 7 12728105 12728105 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 99 67 154 0 ENST00000356797.3:c.226G>A p.Val76Ile p.V76I ENST00000356797 76 Gta/Ata 0 -ARL6 UCSF GRCh37 3 97499033 97499033 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 49 44 0 ENST00000335979.2:c.154G>A p.Gly52Arg p.G52R ENST00000335979 NM_032146.4 52 Gga/Aga 0 -ARMC4 UCSF GRCh37 10 28225673 28225673 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 112 61 152 1 ENST00000305242.5:c.2234G>A p.Ser745Asn p.S745N ENST00000305242 NM_018076.2 745 aGc/aAc 0 -ARMCX5 UCSF GRCh37 X 101857642 101857642 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 82 136 0 ENST00000246174.2:c.573G>A p.Glu191= p.E191= ENST00000246174 NM_001168480.1 191 gaG/gaA 0 -ARNT UCSF GRCh37 1 150814899 150814899 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 25 83 0 ENST00000358595.5:c.272+1G>A p.X91_splice ENST00000358595 NM_178427.2 0 -ARPP21 UCSF GRCh37 3 35748507 35748507 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 21 65 0 ENST00000187397.4:c.728G>A p.Gly243Asp p.G243D ENST00000187397 NM_016300.4 243 gGt/gAt 0 -ARRDC5 UCSF GRCh37 19 4902759 4902759 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 124 60 124 0 ENST00000381781.2:c.121G>A p.Val41Met p.V41M ENST00000381781 NM_001080523.1 41 Gtg/Atg 0 -ARRDC5 UCSF GRCh37 19 4891544 4891544 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 119 68 77 0 ENST00000381781.2:c.543C>T p.Asn181= p.N181= ENST00000381781 NM_001080523.1 181 aaC/aaT 0 -ARSH UCSF GRCh37 X 2942141 2942141 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 11 22 27 0 ENST00000381130.2:c.981C>T p.His327= p.H327= ENST00000381130 NM_001011719.1 327 caC/caT 0 -ASAH1 UCSF GRCh37 8 17915063 17915063 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 14 23 0 ENST00000262097.6:c.1168G>A p.Asp390Asn p.D390N ENST00000262097 NM_177924.3 390 Gac/Aac 0 -ASB6 UCSF GRCh37 9 132400594 132400594 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 37 30 0 ENST00000277458.4:c.741G>A p.Leu247= p.L247= ENST00000277458 NM_017873.3 247 ctG/ctA 0 -ASCC2 UCSF GRCh37 22 30210654 30210654 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 21 33 0 ENST00000307790.3:c.712C>T p.Pro238Ser p.P238S ENST00000307790 NM_032204.4 238 Cct/Tct 0 -ASPH UCSF GRCh37 8 62430118 62430118 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 68 39 62 0 ENST00000379454.4:c.2095G>A p.Gly699Ser p.G699S ENST00000379454 NM_004318.3 699 Ggc/Agc 0 -ASPHD2 UCSF GRCh37 22 26830109 26830109 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 34 39 0 ENST00000215906.5:c.528G>A p.Thr176= p.T176= ENST00000215906 NM_020437.4 176 acG/acA 0 -ASPM UCSF GRCh37 1 197072633 197072633 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 64 117 0 ENST00000367409.4:c.5748G>A p.Gln1916= p.Q1916= ENST00000367409 NM_018136.4 1916 caG/caA 0 -ASXL1 UCSF GRCh37 20 31021696 31021696 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 137 85 86 0 ENST00000375687.4:c.1695G>A p.Glu565= p.E565= ENST00000375687 NM_015338.5 565 gaG/gaA 0 -ATF7 UCSF GRCh37 12 53931335 53931335 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 94 60 159 0 ENST00000548446.2:c.299C>T p.Ala100Val p.A100V ENST00000548446 100 gCt/gTt 0 -ATG13 UCSF GRCh37 11 46690417 46690417 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 21 28 57 0 ENST00000359513.4:c.1304G>A p.Gly435Asp p.G435D ENST00000359513 435 gGc/gAc 0 -ATG2A UCSF GRCh37 11 64677367 64677367 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 29 10 0 ENST00000377264.3:c.1893G>A p.Gln631= p.Q631= ENST00000377264 NM_015104.2 631 caG/caA 0 -ATM UCSF GRCh37 11 108155178 108155178 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 57 33 0 ENST00000278616.4:c.3971G>A p.Ser1324Asn p.S1324N ENST00000278616 NM_000051.3 1324 aGt/aAt 0 -ATN1 UCSF GRCh37 12 7045938 7045939 + protein_altering_variant In_Frame_Ins INS - - AGCAGCAGC NOVEL P05_Rec Untested WXS Illumina HiSeq 7 0 ENST00000356654.4:c.1508_1509insAGCAGCAGC p.His503delinsGlnAlaAlaAla p.H503delinsQAAA ENST00000356654 NM_001007026.1 503 cat/caAGCAGCAGCt 0 -ATP11A UCSF GRCh37 13 113512565 113512565 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 19 44 55 0 ENST00000375645.3:c.2628C>T p.Tyr876= p.Y876= ENST00000375645 NM_015205.2 876 taC/taT 0 -ATP13A4 UCSF GRCh37 3 193183851 193183851 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 145 69 145 0 ENST00000342695.4:c.1235G>A p.Gly412Glu p.G412E ENST00000342695 NM_032279.2 412 gGg/gAg 0 -ATP13A4 UCSF GRCh37 3 193166011 193166011 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 30 80 0 ENST00000342695.4:c.2136G>A p.Arg712= p.R712= ENST00000342695 NM_032279.2 712 agG/agA 0 -ATP1A2 UCSF GRCh37 1 160094966 160094966 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 30 43 0 ENST00000361216.3:c.671C>T p.Thr224Ile p.T224I ENST00000361216 NM_000702.3 224 aCc/aTc 0 -ATP1B4 UCSF GRCh37 X 119500574 119500574 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 49 63 0 ENST00000218008.3:c.258G>A p.Leu86= p.L86= ENST00000218008 NM_001142447.2 86 ttG/ttA 0 -ATP2A1 UCSF GRCh37 16 28912191 28912191 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 39 46 0 ENST00000357084.3:c.2054C>T p.Ser685Phe p.S685F ENST00000357084 NM_173201.3 685 tCc/tTc 0 -ATP2B1 UCSF GRCh37 12 89984838 89984838 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 66 117 0 ENST00000428670.3:c.3586C>T p.Leu1196Phe p.L1196F ENST00000428670 1196 Ctt/Ttt 0 -ATP2B2 UCSF GRCh37 3 10382388 10382388 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 95 37 37 0 ENST00000352432.4:c.2918G>A p.Gly973Asp p.G973D ENST00000352432 973 gGc/gAc 0 -ATP2B4 UCSF GRCh37 1 203668793 203668793 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 136 80 118 0 ENST00000357681.5:c.597C>T p.Ile199= p.I199= ENST00000357681 NM_001684.4 199 atC/atT 0 -ATP5J2-PTCD1 UCSF GRCh37 7 99032460 99032460 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 242 61 111 0 ENST00000292478.4:c.406C>T p.Pro136Ser p.P136S ENST00000292478 NM_015545.3 136 Ccg/Tcg 0 -ATP7B UCSF GRCh37 13 52544773 52544773 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 28 61 83 0 ENST00000242839.4:c.1398C>T p.Leu466= p.L466= ENST00000242839 NM_000053.3 466 ctC/ctT 0 -ATP8B4 UCSF GRCh37 15 50288947 50288947 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 40 22 26 0 ENST00000284509.6:c.516C>T p.Asn172= p.N172= ENST00000284509 NM_024837.3 172 aaC/aaT 0 -ATP9A UCSF GRCh37 20 50273508 50273508 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 29 21 23 0 ENST00000338821.5:c.1475G>A p.Cys492Tyr p.C492Y ENST00000338821 NM_006045.1 492 tGc/tAc 0 -ATRN UCSF GRCh37 20 3624813 3624813 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 53 106 0 ENST00000262919.5:c.4063C>T p.Pro1355Ser p.P1355S ENST00000262919 NM_139321.2 1355 Ccc/Tcc 0 -ATRX UCSF GRCh37 X 76875979 76875979 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 49 48 54 0 ENST00000373344.5:c.5156A>G p.Asp1719Gly p.D1719G ENST00000373344 NM_000489.3 1719 gAt/gGt 0 -ATXN3L UCSF GRCh37 X 13338003 13338003 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 94 192 0 ENST00000380622.2:c.51C>T p.His17= p.H17= ENST00000380622 NM_001135995.1 17 caC/caT 0 -ATXN7L2 UCSF GRCh37 1 110033657 110033657 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 65 40 0 ENST00000369870.3:c.1472G>A p.Arg491Lys p.R491K ENST00000369870 NM_153340.4 491 aGa/aAa 0 -ATXN7L2 UCSF GRCh37 1 110031543 110031543 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 49 51 0 ENST00000369870.3:c.858G>A p.Lys286= p.K286= ENST00000369870 NM_153340.4 286 aaG/aaA 0 -AUH UCSF GRCh37 9 93979608 93979608 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 14 48 0 ENST00000375731.4:c.845G>A p.Gly282Glu p.G282E ENST00000375731 NM_001698.2 282 gGa/gAa 0 -AUTS2 UCSF GRCh37 7 70254767 70254767 + synonymous_variant Silent SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 96 51 70 0 ENST00000342771.4:c.2565T>C p.Pro855= p.P855= ENST00000342771 NM_015570.2 855 ccT/ccC 0 -AVL9 UCSF GRCh37 7 32584392 32584392 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 9 28 0 ENST00000318709.4:c.300+1G>A p.X100_splice ENST00000318709 NM_015060.1 0 -AVL9 UCSF GRCh37 7 32598240 32598240 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 26 62 0 ENST00000318709.4:c.679G>A p.Gly227Ser p.G227S ENST00000318709 NM_015060.1 227 Ggc/Agc 0 -AXIN1 UCSF GRCh37 16 343703 343703 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 23 44 0 ENST00000262320.3:c.1971G>A p.Arg657= p.R657= ENST00000262320 NM_003502.3 657 agG/agA 0 -AZI1 UCSF GRCh37 17 79164773 79164773 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 80 43 28 0 ENST00000269392.4:c.2886G>A p.Glu962= p.E962= ENST00000269392 NM_014984.2 962 gaG/gaA 0 -AZI1 UCSF GRCh37 17 79193782 79193782 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 38 34 0 ENST00000269392.4:c.75C>T p.Leu25= p.L25= ENST00000269392 NM_014984.2 25 ctC/ctT 0 -B3GALT4 UCSF GRCh37 6 33246072 33246072 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 98 46 53 0 ENST00000451237.1:c.876C>T p.Val292= p.V292= ENST00000451237 NM_003782.3 292 gtC/gtT 0 -B4GALT4 UCSF GRCh37 3 118945752 118945752 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 12 39 0 ENST00000359213.3:c.390C>T p.His130= p.H130= ENST00000359213 NM_212543.1 130 caC/caT 0 -BACE1 UCSF GRCh37 11 117165989 117165989 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 36 53 0 ENST00000313005.6:c.425G>A p.Gly142Asp p.G142D ENST00000313005 NM_138971.3 142 gGc/gAc 0 -BAD UCSF GRCh37 11 64051683 64051683 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 65 58 25 0 ENST00000309032.3:c.158A>G p.Glu53Gly p.E53G ENST00000309032 NM_032989.2 53 gAg/gGg 0 -BAG3 UCSF GRCh37 10 121436297 121436297 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 34 67 0 ENST00000369085.3:c.1231G>A p.Gly411Arg p.G411R ENST00000369085 NM_004281.3 411 Gga/Aga 0 -BAHCC1 UCSF GRCh37 17 79426522 79426522 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 67 30 30 0 ENST00000307745.7:c.5797G>A p.Val1933Ile p.V1933I ENST00000307745 1933 Gtt/Att 0 -BAI3 UCSF GRCh37 6 69640470 69640470 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 25 17 24 0 ENST00000370598.1:c.777T>G p.Asp259Glu p.D259E ENST00000370598 NM_001704.2 259 gaT/gaG 0 -BAIAP2L1 UCSF GRCh37 7 97946557 97946557 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 216 74 147 0 ENST00000005260.8:c.460C>T p.Leu154Phe p.L154F ENST00000005260 NM_018842.4 154 Ctc/Ttc 0 -BAZ1B UCSF GRCh37 7 72892854 72892854 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 27 48 0 ENST00000339594.4:c.937C>T p.Pro313Ser p.P313S ENST00000339594 NM_032408.3 313 Cca/Tca 0 -BAZ2B UCSF GRCh37 2 160205734 160205734 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 22 41 0 ENST00000392783.2:c.4921G>A p.Val1641Ile p.V1641I ENST00000392783 NM_013450.2 1641 Gtt/Att 0 -BAZ2B UCSF GRCh37 2 160295520 160295520 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 113 62 97 0 ENST00000392783.2:c.900G>A p.Gln300= p.Q300= ENST00000392783 NM_013450.2 300 caG/caA 0 -BBS10 UCSF GRCh37 12 76741297 76741297 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 31 47 0 ENST00000393262.3:c.468C>T p.Ile156= p.I156= ENST00000393262 NM_024685.3 156 atC/atT 0 -BCAM UCSF GRCh37 19 45314506 45314506 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 39 59 0 ENST00000270233.6:c.107C>T p.Ser36Phe p.S36F ENST00000270233 NM_005581.4 36 tCt/tTt 0 -BCL11A UCSF GRCh37 2 60688616 60688616 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 24 25 15 0 ENST00000335712.6:c.1431C>T p.Asn477= p.N477= ENST00000335712 NM_022893.3 477 aaC/aaT 0 -BCL7C UCSF GRCh37 16 30905182 30905182 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 13 13 0 ENST00000215115.4:c.84C>T p.Val28= p.V28= ENST00000215115 NM_004765.2 28 gtC/gtT 0 -BCL9 UCSF GRCh37 1 147091456 147091456 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 53 60 0 ENST00000234739.3:c.1495G>A p.Asp499Asn p.D499N ENST00000234739 NM_004326.3 499 Gac/Aac 0 -BCMO1 UCSF GRCh37 16 81301516 81301516 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 24 31 0 ENST00000258168.2:c.623G>A p.Gly208Asp p.G208D ENST00000258168 NM_017429.2 208 gGc/gAc 0 -BCO2 UCSF GRCh37 11 112071473 112071473 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 84 47 102 0 ENST00000357685.5:c.1003G>A p.Val335Met p.V335M ENST00000357685 335 Gtg/Atg 0 -BCS1L UCSF GRCh37 2 219525867 219525867 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 59 81 0 ENST00000359273.3:c.157G>A p.Val53Ile p.V53I ENST00000359273 NM_001257344.1 53 Gtc/Atc 0 -BDKRB1 UCSF GRCh37 14 96731073 96731073 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.00092 P05_Rec Untested WXS Illumina HiSeq 113 41 102 0 ENST00000216629.6:c.1054C>T p.Arg352Trp p.R352W ENST00000216629 NM_000710.3 352 Cgg/Tgg 0 -BEMT-ND2 UCSF GRCh37 X 18183192 18183192 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 70 93 0 ENST00000380033.4:c.2337C>T p.Thr779= p.T779= ENST00000380033 NM_153346.4 779 acC/acT 0 -BEST2 UCSF GRCh37 19 12866441 12866441 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 12 54 0 ENST00000042931.1:c.727G>A p.Ala243Thr p.A243T ENST00000042931 NM_017682.2 243 Gca/Aca 0 -GPRASP3 UCSF GRCh37 X 102004592 102004592 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 112 125 0 ENST00000361229.4:c.669C>T p.Ala223= p.A223= ENST00000361229 NM_030639.2 223 gcC/gcT 0 -BIN2 UCSF GRCh37 12 51685495 51685495 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 20 25 0 ENST00000267012.4:c.1395C>T p.Val465= p.V465= ENST00000267012 NM_016293.2 465 gtC/gtT 0 -BIRC6 UCSF GRCh37 2 32743376 32743376 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 65 126 0 ENST00000421745.2:c.11405G>A p.Gly3802Glu p.G3802E ENST00000421745 NM_016252.3 3802 gGg/gAg 0 -BIRC7 UCSF GRCh37 20 61869967 61869967 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 55 50 49 0 ENST00000217169.3:c.577+1G>A p.X193_splice ENST00000217169 NM_139317.2 0 -BLOC1S1 UCSF GRCh37 12 56110721 56110721 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 109 50 84 0 ENST00000548925.1:c.150G>A p.Lys50= p.K50= ENST00000548925 50 aaG/aaA 0 -BOD1L UCSF GRCh37 4 13597562 13597562 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 148 70 115 0 ENST00000040738.5:c.8026G>A p.Val2676Met p.V2676M ENST00000040738 NM_148894.2 2676 Gtg/Atg 0 -BPGM UCSF GRCh37 7 134346582 134346582 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 38 67 0 ENST00000344924.3:c.323G>A p.Gly108Asp p.G108D ENST00000344924 NM_001724.4 108 gGt/gAt 0 -BPIFA1 UCSF GRCh37 20 31829249 31829249 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 99 66 146 0 ENST00000354297.4:c.640G>A p.Val214Ile p.V214I ENST00000354297 NM_130852.2 214 Gtc/Atc 0 -BPTF UCSF GRCh37 17 65908699 65908699 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 115 49 110 0 ENST00000321892.4:c.5077C>T p.Leu1693= p.L1693= ENST00000321892 1693 Ctg/Ttg 0 -BRD3 UCSF GRCh37 9 136913446 136913446 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 112 42 30 0 ENST00000303407.7:c.845G>A p.Gly282Asp p.G282D ENST00000303407 NM_007371.3 282 gGt/gAt 0 -BRI3BP UCSF GRCh37 12 125509705 125509705 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 131 47 52 0 ENST00000341446.8:c.485G>A p.Arg162Gln p.R162Q ENST00000341446 NM_080626.5 162 cGg/cAg 0 -BRPF1 UCSF GRCh37 3 9785495 9785495 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 20 28 0 ENST00000457855.1:c.2527G>A p.Gly843Ser p.G843S ENST00000457855 843 Ggt/Agt 0 -BRWD1 UCSF GRCh37 21 40601293 40601293 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 32 41 0 ENST00000333229.2:c.3070C>T p.Leu1024= p.L1024= ENST00000333229 NM_018963.4 1024 Cta/Tta 0 -BRWD1 UCSF GRCh37 21 40590459 40590459 + synonymous_variant Silent SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 32 46 0 ENST00000333229.2:c.3510C>A p.Ile1170= p.I1170= ENST00000333229 NM_018963.4 1170 atC/atA 0 -BRWD3 UCSF GRCh37 X 79989714 79989714 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 86 32 79 0 ENST00000373275.4:c.989G>A p.Gly330Asp p.G330D ENST00000373275 NM_153252.4 330 gGt/gAt 0 -BSN UCSF GRCh37 3 49689037 49689037 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 80 58 42 0 ENST00000296452.4:c.2048C>T p.Thr683Ile p.T683I ENST00000296452 NM_003458.3 683 aCa/aTa 0 -BSN UCSF GRCh37 3 49680541 49680541 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 27 20 26 0 ENST00000296452.4:c.1474G>A p.Val492Met p.V492M ENST00000296452 NM_003458.3 492 Gtg/Atg 0 -BSN UCSF GRCh37 3 49689614 49689614 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 19 25 0 ENST00000296452.4:c.2625G>A p.Gln875= p.Q875= ENST00000296452 NM_003458.3 875 caG/caA 0 -BTBD7 UCSF GRCh37 14 93712565 93712565 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 17 61 0 ENST00000334746.5:c.2189C>T p.Pro730Leu p.P730L ENST00000334746 NM_001002860.2 730 cCt/cTt 0 -BTG2 UCSF GRCh37 1 203276539 203276539 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 43 32 26 0 ENST00000290551.4:c.450G>A p.Lys150= p.K150= ENST00000290551 NM_006763.2 150 aaG/aaA 0 -C10orf10 UCSF GRCh37 10 45473337 45473337 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 55 39 0 ENST00000298295.3:c.142G>A p.Ala48Thr p.A48T ENST00000298295 NM_007021.3 48 Gca/Aca 0 -LCOR UCSF GRCh37 10 98744807 98744807 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 23 37 72 0 ENST00000286067.2:c.3660G>A p.Glu1220= p.E1220= ENST00000286067 NM_015652.2 1220 gaG/gaA 0 -C10orf120 UCSF GRCh37 10 124459240 124459240 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 33 61 0 ENST00000329446.4:c.67C>T p.Gln23Ter p.Q23* ENST00000329446 NM_001010912.2 23 Caa/Taa 0 -C10orf68 UCSF GRCh37 10 32983896 32983896 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 16 24 0 ENST00000375025.4:c.355C>T p.Leu119Phe p.L119F ENST00000375025 119 Ctt/Ttt 0 -C11orf66 UCSF GRCh37 11 61249350 61249350 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 34 17 0 ENST00000338608.2:c.69C>T p.Asp23= p.D23= ENST00000338608 NM_145017.2 23 gaC/gaT 0 -C12orf11 UCSF GRCh37 12 27077313 27077313 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 26 54 0 ENST00000261191.7:c.779C>T p.Thr260Ile p.T260I ENST00000261191 NM_018164.2 260 aCt/aTt 0 -C12orf11 UCSF GRCh37 12 27066981 27066981 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 33 29 0 ENST00000261191.7:c.1500C>T p.Asn500= p.N500= ENST00000261191 NM_018164.2 500 aaC/aaT 0 -C12orf51 UCSF GRCh37 12 112613626 112613626 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 160 33 126 1 ENST00000550722.1:c.11070C>T p.His3690= p.H3690= ENST00000550722 NM_001109662.3 3690 caC/caT 0 -C13orf27 UCSF GRCh37 13 103420646 103420646 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 25 56 56 0 ENST00000376032.4:c.262T>C p.Ser88Pro p.S88P ENST00000376032 NM_138779.3 88 Tca/Cca 0 -C14orf102 UCSF GRCh37 14 90770410 90770410 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 115 71 117 0 ENST00000354366.3:c.874G>A p.Glu292Lys p.E292K ENST00000354366 NM_017970.3 292 Gaa/Aaa 0 -C14orf28 UCSF GRCh37 14 45369727 45369727 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 36 74 0 ENST00000325192.3:c.89G>A p.Gly30Glu p.G30E ENST00000325192 NM_001017923.1 30 gGg/gAg 0 -C15orf27 UCSF GRCh37 15 76496215 76496215 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 56 57 0 ENST00000388942.3:c.1155C>T p.Thr385= p.T385= ENST00000388942 NM_152335.2 385 acC/acT 0 -C15orf33 UCSF GRCh37 15 49663565 49663565 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 122 63 102 0 ENST00000299338.6:c.1044C>T p.Asn348= p.N348= ENST00000299338 NM_152647.2 348 aaC/aaT 0 -C15orf55 UCSF GRCh37 15 34640819 34640819 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 47 77 0 ENST00000333756.4:c.666C>T p.Ala222= p.A222= ENST00000333756 NM_175741.1 222 gcC/gcT 0 -C16orf57 UCSF GRCh37 16 58043838 58043838 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 109 50 69 0 ENST00000219281.3:c.271G>A p.Ala91Thr p.A91T ENST00000219281 NM_024598.3 91 Gcc/Acc 0 -C16orf58 UCSF GRCh37 16 31510822 31510822 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 17 8 21 0 ENST00000327237.2:c.486G>A p.Lys162= p.K162= ENST00000327237 NM_022744.3 162 aaG/aaA 0 -C16orf71 UCSF GRCh37 16 4790360 4790360 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 70 47 28 0 ENST00000299320.5:c.483C>T p.Ser161= p.S161= ENST00000299320 NM_139170.2 161 tcC/tcT 0 -C17orf104 UCSF GRCh37 17 42745345 42745345 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 62 87 0 ENST00000409122.2:c.2066C>T p.Pro689Leu p.P689L ENST00000409122 NM_001145080.2 689 cCc/cTc 0 -C17orf74 UCSF GRCh37 17 7330099 7330099 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 45 35 0 ENST00000333870.3:c.789C>T p.Ser263= p.S263= ENST00000333870 NM_175734.4 263 tcC/tcT 0 -C17orf78 UCSF GRCh37 17 35745639 35745639 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 49 91 0 ENST00000300618.4:c.543G>A p.Trp181Ter p.W181* ENST00000300618 NM_173625.3 181 tgG/tgA 0 -C17orf80 UCSF GRCh37 17 71231716 71231716 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 26 58 0 ENST00000359042.2:c.95G>A p.Gly32Glu p.G32E ENST00000359042 NM_017941.4 32 gGa/gAa 0 -C17orf85 UCSF GRCh37 17 3721832 3721832 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 58 105 0 ENST00000389005.4:c.1035G>A p.Glu345= p.E345= ENST00000389005 NM_001114118.2 345 gaG/gaA 0 -C1orf116 UCSF GRCh37 1 207195526 207195526 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 22 30 0 ENST00000359470.5:c.1583C>T p.Pro528Leu p.P528L ENST00000359470 NM_023938.5 528 cCc/cTc 0 -C1orf55 UCSF GRCh37 1 226179064 226179064 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 25 60 0 ENST00000272091.7:c.521G>A p.Gly174Asp p.G174D ENST00000272091 NM_152608.3 174 gGt/gAt 0 -C20orf194 UCSF GRCh37 20 3275275 3275275 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 20 35 0 ENST00000252032.9:c.2019G>A p.Leu673= p.L673= ENST00000252032 NM_001009984.2 673 ttG/ttA 0 -C20orf20 UCSF GRCh37 20 61429976 61429976 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 225 154 137 0 ENST00000370487.3:c.308G>A p.Arg103Lys p.R103K ENST00000370487 NM_018270.4 103 aGg/aAg 0 -C20orf43 UCSF GRCh37 20 55092182 55092182 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 20 44 0 ENST00000357348.5:c.757G>A p.Val253Ile p.V253I ENST00000357348 NM_001283035.1 253 Gtt/Att 0 -C21orf63 UCSF GRCh37 21 33887344 33887344 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 42 84 0 ENST00000300255.2:c.1170G>A p.Leu390= p.L390= ENST00000300255 NM_058187.3 390 ctG/ctA 0 -C2orf67 UCSF GRCh37 2 210889860 210889860 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 72 42 44 0 ENST00000281772.9:c.2532G>A p.Trp844Ter p.W844* ENST00000281772 NM_152519.2 844 tgG/tgA 0 -C3orf20 UCSF GRCh37 3 14799102 14799102 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 27 13 0 ENST00000253697.3:c.2165C>T p.Thr722Ile p.T722I ENST00000253697 NM_032137.4 722 aCc/aTc 0 -APRG1 UCSF GRCh37 3 37459110 37459110 + intron_variant Intron SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 189 39 97 0 ENST00000328376.5:c.226+127G>A *76* ENST00000328376 NM_178339.2 0 -C4A UCSF GRCh37 6 31997482 31997482 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 132 31 97 0 ENST00000435363.2:c.3816C>T p.Leu1272= p.L1272= ENST00000435363 NM_001002029.3 1272 ctC/ctT 0 -C4orf40 UCSF GRCh37 4 71024297 71024297 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 129 88 122 0 ENST00000344526.5:c.328C>T p.Pro110Ser p.P110S ENST00000344526 NM_214711.3 110 Ccg/Tcg 0 -IRX2-DT UCSF GRCh37 5 2752772 2752772 + upstream_gene_variant 5'Flank SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 116 76 67 0 ENST00000302057 NM_033267.4 0 -C5orf42 UCSF GRCh37 5 37245866 37245866 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 38 37 0 ENST00000425232.2:c.163C>T p.Pro55Ser p.P55S ENST00000425232 NM_023073.3 55 Cct/Tct 0 -RIMOC1 UCSF GRCh37 5 41917238 41917238 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 35 77 0 ENST00000381647.2:c.722G>A p.Gly241Glu p.G241E ENST00000381647 NM_175921.4 241 gGa/gAa 0 -C6orf103 UCSF GRCh37 6 147073673 147073673 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 27 69 0 ENST00000397944.3:c.3373G>A p.Val1125Ile p.V1125I ENST00000397944 NM_024694.3 1125 Gtt/Att 0 -C6orf106 UCSF GRCh37 6 34614419 34614419 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 99 52 97 0 ENST00000374023.3:c.470G>A p.Gly157Glu p.G157E ENST00000374023 NM_024294.2 157 gGa/gAa 0 -C6orf118 UCSF GRCh37 6 165703467 165703467 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 47 64 0 ENST00000230301.8:c.1210G>A p.Asp404Asn p.D404N ENST00000230301 NM_144980.3 404 Gat/Aat 0 -C6orf168 UCSF GRCh37 6 99771450 99771450 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 51 16 38 0 ENST00000389677.5:c.693G>A p.Arg231= p.R231= ENST00000389677 NM_032511.2 231 agG/agA 0 -C6orf27 UCSF GRCh37 6 31735267 31735267 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 65 111 0 ENST00000375688.4:c.1661G>A p.Gly554Asp p.G554D ENST00000375688 554 gGc/gAc 0 -C6orf48 UCSF GRCh37 6 31807392 31807392 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 36 85 0 ENST00000375633.1:c.180C>T p.Ser60= p.S60= ENST00000375633 NM_001287488.1 60 tcC/tcT 0 -C6orf97 UCSF GRCh37 6 151894324 151894324 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 28 69 0 ENST00000239374.7:c.790G>A p.Val264Ile p.V264I ENST00000239374 NM_025059.3 264 Gta/Ata 0 -C6orf97 UCSF GRCh37 6 151894326 151894326 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 74 28 72 0 ENST00000239374.7:c.792A>G p.Val264= p.V264= ENST00000239374 NM_025059.3 264 gtA/gtG 0 -C7orf30 UCSF GRCh37 7 23339170 23339170 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 3 12 0 ENST00000466681.1:c.199C>T p.Leu67= p.L67= ENST00000466681 NM_138446.1 67 Ctg/Ttg 0 -C7orf51 UCSF GRCh37 7 100085797 100085797 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 271 99 133 0 ENST00000300179.2:c.453G>A p.Glu151= p.E151= ENST00000300179 NM_173564.3 151 gaG/gaA 0 -C7orf58 UCSF GRCh37 7 120629737 120629737 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 144 66 0 ENST00000310396.5:c.62G>A p.Gly21Asp p.G21D ENST00000310396 NM_024913.4 21 gGc/gAc 0 -C7orf64 UCSF GRCh37 7 92158212 92158212 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 12 19 0 ENST00000265732.5:c.85G>A p.Glu29Lys p.E29K ENST00000265732 NM_032120.2 29 Gag/Aag 0 -C8A UCSF GRCh37 1 57373672 57373672 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 25 53 0 ENST00000361249.3:c.1266G>A p.Arg422= p.R422= ENST00000361249 NM_000562.2 422 cgG/cgA 0 -C8orf33 UCSF GRCh37 8 146278156 146278156 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 108 48 29 0 ENST00000331434.6:c.191G>A p.Gly64Asp p.G64D ENST00000331434 NM_023080.2 64 gGc/gAc 0 -C8orf34 UCSF GRCh37 8 69381015 69381015 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 32 81 0 ENST00000518698.1:c.696G>A p.Glu232= p.E232= ENST00000518698 NM_052958.2 232 gaG/gaA 0 -C8orf76 UCSF GRCh37 8 124243833 124243833 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 145 96 139 0 ENST00000276704.4:c.522C>T p.Tyr174= p.Y174= ENST00000276704 NM_032847.2 174 taC/taT 0 -C8orf80 UCSF GRCh37 8 27922104 27922104 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 119 79 128 0 ENST00000413272.2:c.856G>A p.Val286Ile p.V286I ENST00000413272 NM_001010906.1 286 Gtc/Atc 0 -C9orf117 UCSF GRCh37 9 130474170 130474170 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 13 9 0 ENST00000373295.2:c.927C>T p.Leu309= p.L309= ENST00000373295 NM_001012502.2 309 ctC/ctT 0 -C9orf152 UCSF GRCh37 9 112963293 112963293 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 35 81 0 ENST00000400613.4:c.655C>T p.Pro219Ser p.P219S ENST00000400613 NM_001012993.2 219 Ccc/Tcc 0 -C9orf152 UCSF GRCh37 9 112963491 112963491 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 52 136 0 ENST00000400613.4:c.457C>T p.Pro153Ser p.P153S ENST00000400613 NM_001012993.2 153 Cct/Tct 0 -C9orf50 UCSF GRCh37 9 132381915 132381915 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 198 74 57 0 ENST00000372478.4:c.600G>A p.Trp200Ter p.W200* ENST00000372478 NM_199350.3 200 tgG/tgA 0 -C9orf84 UCSF GRCh37 9 114454608 114454608 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 101 64 105 0 ENST00000318737.4:c.3457G>A p.Glu1153Lys p.E1153K ENST00000318737 NM_173521.3 1153 Gag/Aag 0 -C9orf84 UCSF GRCh37 9 114543245 114543245 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 15 46 0 ENST00000318737.4:c.30G>A p.Trp10Ter p.W10* ENST00000318737 NM_173521.3 10 tgG/tgA 0 -CA12 UCSF GRCh37 15 63618500 63618500 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 40 43 0 ENST00000178638.3:c.1049C>T p.Thr350Ile p.T350I ENST00000178638 NM_001218.3 350 aCt/aTt 0 -CABS1 UCSF GRCh37 4 71201897 71201897 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 55 37 69 0 ENST00000273936.5:c.1141G>A p.Asp381Asn p.D381N ENST00000273936 NM_033122.3 381 Gat/Aat 0 -CACNA1S UCSF GRCh37 1 201009472 201009472 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 22 20 0 ENST00000362061.3:c.5257G>A p.Asp1753Asn p.D1753N ENST00000362061 NM_000069.2 1753 Gac/Aac 0 -CACNA2D3 UCSF GRCh37 3 54661876 54661876 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 52 111 0 ENST00000288197.5:c.1026G>A p.Leu342= p.L342= ENST00000288197 342 ctG/ctA 0 -CADPS UCSF GRCh37 3 62648069 62648069 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 31 41 0 ENST00000383710.4:c.889C>T p.Leu297= p.L297= ENST00000383710 NM_003716.3 297 Ctg/Ttg 0 -CALB2 UCSF GRCh37 16 71416647 71416647 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 29 84 0 ENST00000302628.4:c.368G>A p.Arg123Lys p.R123K ENST00000302628 NM_001740.4 123 aGg/aAg 0 -CAMK1G UCSF GRCh37 1 209776620 209776620 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 21 43 0 ENST00000009105.1:c.283C>T p.Leu95= p.L95= ENST00000009105 95 Ctg/Ttg 0 -CAMSAP1 UCSF GRCh37 9 138773575 138773575 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 71 63 0 ENST00000389532.4:c.489G>A p.Glu163= p.E163= ENST00000389532 NM_015447.3 163 gaG/gaA 0 -CAMTA1 UCSF GRCh37 1 7737659 7737659 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 64 79 0 ENST00000303635.7:c.2780C>T p.Ala927Val p.A927V ENST00000303635 NM_015215.2 927 gCc/gTc 0 -CAPN1 UCSF GRCh37 11 64956121 64956121 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 35 35 0 ENST00000279247.6:c.1069G>A p.Ala357Thr p.A357T ENST00000279247 NM_005186.3 357 Gcc/Acc 0 -CAPN12 UCSF GRCh37 19 39224996 39224996 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 17 26 0 ENST00000328867.4:c.1778G>A p.Gly593Glu p.G593E ENST00000328867 NM_144691.3 593 gGg/gAg 0 -CAPN3 UCSF GRCh37 15 42703102 42703102 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 39 42 0 ENST00000397163.3:c.2284C>T p.Leu762Phe p.L762F ENST00000397163 NM_000070.2 762 Ctc/Ttc 0 -CAPS UCSF GRCh37 19 5914424 5914424 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 40 45 0 ENST00000222125.5:c.7G>A p.Ala3Thr p.A3T ENST00000222125 NM_004058.3 3 Gcc/Acc 0 -CAPZA2 UCSF GRCh37 7 116544243 116544243 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 166 34 74 0 ENST00000361183.3:c.232G>A p.Glu78Lys p.E78K ENST00000361183 NM_006136.2 78 Gaa/Aaa 0 -CARS UCSF GRCh37 11 3028128 3028128 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 98 97 0 ENST00000397111.5:c.1881G>A p.Val627= p.V627= ENST00000397111 627 gtG/gtA 0 -CASP10 UCSF GRCh37 2 202060618 202060618 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 110 47 153 0 ENST00000272879.5:c.631G>A p.Glu211Lys p.E211K ENST00000272879 NM_032974.4 211 Gag/Aag 0 -CBL UCSF GRCh37 11 119169134 119169134 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 39 54 0 ENST00000264033.4:c.2318G>A p.Gly773Glu p.G773E ENST00000264033 NM_005188.3 773 gGg/gAg 0 -CBLB UCSF GRCh37 3 105400646 105400646 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 22 44 0 ENST00000264122.4:c.2218C>T p.His740Tyr p.H740Y ENST00000264122 NM_170662.3 740 Cac/Tac 0 -CBX1 UCSF GRCh37 17 46153525 46153525 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 23 55 0 ENST00000225603.4:c.156G>A p.Trp52Ter p.W52* ENST00000225603 NM_001127228.1 52 tgG/tgA 0 -CC2D2A UCSF GRCh37 4 15569352 15569352 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 124 67 111 0 ENST00000424120.1:c.3341C>T p.Thr1114Met p.T1114M ENST00000424120 1114 aCg/aTg 0 -CC2D2A UCSF GRCh37 4 15538543 15538543 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 46 80 0 ENST00000424120.1:c.1608G>A p.Lys536= p.K536= ENST00000424120 536 aaG/aaA 0 -CCBE1 UCSF GRCh37 18 57105359 57105359 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 18 11 27 0 ENST00000439986.4:c.971G>A p.Gly324Glu p.G324E ENST00000439986 NM_133459.3 324 gGg/gAg 0 -CCDC102A UCSF GRCh37 16 57546657 57546657 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 45 29 0 ENST00000258214.2:c.1649C>T p.Ala550Val p.A550V ENST00000258214 NM_033212.3 550 gCc/gTc 0 -CCDC107 UCSF GRCh37 9 35660428 35660428 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 58 55 0 ENST00000426546.2:c.289G>A p.Glu97Lys p.E97K ENST00000426546 NM_001195201.1 97 Gag/Aag 0 -CCDC114 UCSF GRCh37 19 48806279 48806279 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 36 32 0 ENST00000315396.7:c.951G>A p.Glu317= p.E317= ENST00000315396 NM_144577.3 317 gaG/gaA 0 -CCDC134 UCSF GRCh37 22 42209290 42209290 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 24 38 59 0 ENST00000255784.5:c.333C>T p.Asn111= p.N111= ENST00000255784 NM_024821.2 111 aaC/aaT 0 -CCDC138 UCSF GRCh37 2 109410995 109410995 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 24 67 0 ENST00000295124.4:c.395-1G>A p.X132_splice ENST00000295124 NM_144978.1 0 -CCDC14 UCSF GRCh37 3 123680084 123680084 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 6 20 0 ENST00000433542.2:c.81G>A p.Ala27= p.A27= ENST00000433542 NM_022757.4 27 gcG/gcA 0 -CCDC146 UCSF GRCh37 7 76888377 76888377 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 15 15 0 ENST00000285871.4:c.750C>T p.Arg250= p.R250= ENST00000285871 NM_020879.2 250 cgC/cgT 0 -CCDC146 UCSF GRCh37 7 76924039 76924039 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 39 66 0 ENST00000285871.4:c.2724G>A p.Gln908= p.Q908= ENST00000285871 NM_020879.2 908 caG/caA 0 -CCDC149 UCSF GRCh37 4 24810101 24810101 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 61 38 34 0 ENST00000504487.1:c.1500G>A p.Glu500= p.E500= ENST00000504487 NM_001130726.2 500 gaG/gaA 0 -CCDC150 UCSF GRCh37 2 197595664 197595664 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 25 74 0 ENST00000389175.4:c.3064G>A p.Glu1022Lys p.E1022K ENST00000389175 NM_001080539.1 1022 Gaa/Aaa 0 -CCDC57 UCSF GRCh37 17 80156261 80156261 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 53 29 41 0 ENST00000389641.4:c.445T>C p.Tyr149His p.Y149H ENST00000389641 149 Tat/Cat 0 -CCDC57 UCSF GRCh37 17 80146139 80146139 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 32 20 0 ENST00000389641.4:c.1008G>A p.Trp336Ter p.W336* ENST00000389641 336 tgG/tgA 0 -CCDC57 UCSF GRCh37 17 80086473 80086473 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 24 17 0 ENST00000389641.4:c.2245G>A p.Asp749Asn p.D749N ENST00000389641 749 Gac/Aac 0 -CCDC60 UCSF GRCh37 12 119954456 119954456 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 11 46 0 ENST00000327554.2:c.912G>A p.Arg304= p.R304= ENST00000327554 NM_178499.3 304 cgG/cgA 0 -CCDC65 UCSF GRCh37 12 49310856 49310856 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 26 49 0 ENST00000320516.4:c.574G>A p.Glu192Lys p.E192K ENST00000320516 NM_033124.4 192 Gag/Aag 0 -CCDC66 UCSF GRCh37 3 56592873 56592873 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 22 23 0 ENST00000394672.3:c.12-1G>A p.X4_splice ENST00000394672 NM_001141947.1 0 -CCDC66 UCSF GRCh37 3 56651234 56651234 + synonymous_variant Silent SNP G G A snp132_rs114565523 P05_Rec Untested WXS Illumina HiSeq 62 19 50 0 ENST00000394672.3:c.1938G>A p.Ser646= p.S646= ENST00000394672 NM_001141947.1 646 tcG/tcA 0 -CCDC8 UCSF GRCh37 19 46914669 46914669 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 42 48 0 ENST00000307522.3:c.1399C>T p.Pro467Ser p.P467S ENST00000307522 NM_032040.4 467 Cca/Tca 0 -CCDC88A UCSF GRCh37 2 55522966 55522966 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 47 73 0 ENST00000436346.1:c.5318C>T p.Pro1773Leu p.P1773L ENST00000436346 NM_001135597.1 1773 cCt/cTt 0 -CCDC88B UCSF GRCh37 11 64112135 64112135 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 16 11 0 ENST00000356786.5:c.2122G>A p.Val708Ile p.V708I ENST00000356786 NM_032251.5 708 Gtc/Atc 0 -CCNG2 UCSF GRCh37 4 78080624 78080624 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 122 58 59 0 ENST00000316355.5:c.243C>T p.Val81= p.V81= ENST00000316355 NM_004354.2 81 gtC/gtT 0 -CCNJL UCSF GRCh37 5 159680671 159680671 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 21 32 30 0 ENST00000393977.3:c.1022C>T p.Thr341Ile p.T341I ENST00000393977 NM_024565.5 341 aCc/aTc 0 -CCNT1 UCSF GRCh37 12 49087669 49087669 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 95 44 88 0 ENST00000261900.3:c.1328G>A p.Gly443Asp p.G443D ENST00000261900 NM_001240.3 443 gGt/gAt 0 -CCP110 UCSF GRCh37 16 19547481 19547481 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 48 81 0 ENST00000381396.5:c.490G>A p.Asp164Asn p.D164N ENST00000381396 NM_001199022.1 164 Gat/Aat 0 -CD109 UCSF GRCh37 6 74528156 74528156 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 28 39 0 ENST00000287097.5:c.3957C>T p.Asn1319= p.N1319= ENST00000287097 1319 aaC/aaT 0 -CD163 UCSF GRCh37 12 7647854 7647854 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 61 88 0 ENST00000359156.4:c.1243G>A p.Gly415Arg p.G415R ENST00000359156 NM_004244.5 415 Gga/Aga 0 -CD19 UCSF GRCh37 16 28943335 28943335 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 41 53 0 ENST00000324662.3:c.14G>A p.Arg5His p.R5H ENST00000324662 5 cGc/cAc 0 -CD244 UCSF GRCh37 1 160802358 160802358 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 28 73 0 ENST00000368033.3:c.983C>T p.Ser328Phe p.S328F ENST00000368033 328 tCc/tTc 0 -CD244 UCSF GRCh37 1 160811234 160811234 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 40 77 0 ENST00000368033.3:c.436C>T p.Leu146= p.L146= ENST00000368033 146 Ctg/Ttg 0 -CD248 UCSF GRCh37 11 66083250 66083250 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 104 49 56 0 ENST00000311330.3:c.1249G>A p.Asp417Asn p.D417N ENST00000311330 NM_020404.2 417 Gac/Aac 0 -CD300LG UCSF GRCh37 17 41926176 41926176 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 70 34 65 0 ENST00000317310.4:c.294C>T p.Thr98= p.T98= ENST00000317310 NM_145273.3 98 acC/acT 0 -CD33 UCSF GRCh37 19 51728619 51728619 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 52 102 0 ENST00000262262.4:c.183C>T p.Phe61= p.F61= ENST00000262262 NM_001772.3 61 ttC/ttT 0 -CDC16 UCSF GRCh37 13 115037701 115037701 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 28 40 72 0 ENST00000356221.3:c.1646T>C p.Val549Ala p.V549A ENST00000356221 549 gTg/gCg 0 -CDC27 UCSF GRCh37 17 45232117 45232117 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 48 65 0 ENST00000066544.3:c.878G>A p.Gly293Glu p.G293E ENST00000066544 NM_001256.3 293 gGa/gAa 0 -CDC42BPA UCSF GRCh37 1 227204712 227204712 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 101 45 88 0 ENST00000334218.5:c.4550G>A p.Ser1517Asn p.S1517N ENST00000334218 1517 aGt/aAt 0 -CDC42BPG UCSF GRCh37 11 64607621 64607621 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 26 23 0 ENST00000342711.5:c.552C>T p.His184= p.H184= ENST00000342711 NM_017525.2 184 caC/caT 0 -CDC42BPG UCSF GRCh37 11 64596944 64596944 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 22 14 0 ENST00000342711.5:c.3966G>A p.Trp1322Ter p.W1322* ENST00000342711 NM_017525.2 1322 tgG/tgA 0 -CDCA7 UCSF GRCh37 2 174229627 174229627 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0030 P05_Rec Untested WXS Illumina HiSeq 46 51 57 0 ENST00000347703.3:c.567G>A p.Gly189= p.G189= ENST00000347703 NM_145810.2 189 ggG/ggA 0 -CDCP2 UCSF GRCh37 1 54610301 54610301 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 25 32 0 ENST00000371330.1:c.265G>A p.Glu89Lys p.E89K ENST00000371330 NM_201546.3 89 Gag/Aag 0 -CDH1 UCSF GRCh37 16 68867309 68867309 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 30 70 0 ENST00000261769.5:c.2556G>A p.Glu852= p.E852= ENST00000261769 NM_004360.3 852 gaG/gaA 0 -CDH19 UCSF GRCh37 18 64235770 64235770 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 100 49 97 0 ENST00000262150.2:c.373G>A p.Gly125Arg p.G125R ENST00000262150 NM_021153.3 125 Gga/Aga 0 -CDH23 UCSF GRCh37 10 73434906 73434906 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.252,1000g2011may_all_0.28177,snp132_rs10999947 P05_Rec Untested WXS Illumina HiSeq 20 31 54 0 ENST00000224721.6:c.1502G>A p.Ser501Asn p.S501N ENST00000224721 NM_022124.5 501 aGc/aAc 0 -CDH24 UCSF GRCh37 14 23523978 23523978 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 43 47 0 ENST00000267383.5:c.594C>T p.Phe198= p.F198= ENST00000267383 198 ttC/ttT 0 -CDH8 UCSF GRCh37 16 61858915 61858915 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 117 53 82 0 ENST00000577390.1:c.835+1G>A p.X279_splice ENST00000577390 NM_001796.4 0 -CDH9 UCSF GRCh37 5 26886136 26886136 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 95 48 88 0 ENST00000231021.4:c.1569C>T p.Phe523= p.F523= ENST00000231021 NM_016279.3 523 ttC/ttT 0 -CDHR3 UCSF GRCh37 7 105624728 105624728 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 25 48 0 ENST00000317716.9:c.506C>T p.Pro169Leu p.P169L ENST00000317716 NM_152750.4 169 cCc/cTc 0 -CDK10 UCSF GRCh37 16 89755684 89755684 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 10 29 0 ENST00000353379.7:c.112G>A p.Glu38Lys p.E38K ENST00000353379 NM_052988.4 38 Gag/Aag 0 -CDK11A UCSF GRCh37 1 1634940 1634940 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 10 26 0 ENST00000378633.1:c.2044G>A p.Asp682Asn p.D682N ENST00000378633 682 Gac/Aac 0 -CDK11B UCSF GRCh37 1 1571841 1571841 + missense_variant,splice_region_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 75 11 40 0 ENST00000407249.3:c.1929T>G p.Asp643Glu p.D643E ENST00000407249 643 gaT/gaG 0 -CDK12 UCSF GRCh37 17 37667883 37667883 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 25 61 1 ENST00000447079.4:c.2768G>A p.Gly923Glu p.G923E ENST00000447079 NM_015083.1 923 gGa/gAa 0 -CDK13 UCSF GRCh37 7 40132563 40132563 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 176 70 161 0 ENST00000181839.4:c.3415G>A p.Gly1139Ser p.G1139S ENST00000181839 NM_031267.3 1139 Ggt/Agt 0 -CDK18 UCSF GRCh37 1 205495550 205495550 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 47 71 0 ENST00000506784.1:c.717C>T p.Ile239= p.I239= ENST00000506784 239 atC/atT 0 -CDK20 UCSF GRCh37 9 90585714 90585714 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 16 16 0 ENST00000325303.8:c.477C>T p.Leu159= p.L159= ENST00000325303 NM_001039803.2 159 ctC/ctT 0 -CDK4 UCSF GRCh37 12 58145092 58145092 + synonymous_variant Silent SNP G G A NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 118 44 87 0 ENST00000257904.6:c.252C>T p.Asp84= p.D84= ENST00000257904 NM_000075.3 84 gaC/gaT 0 -CDK6 UCSF GRCh37 7 92244504 92244504 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 35 10 36 0 ENST00000265734.4:c.931G>A p.Asp311Asn p.D311N ENST00000265734 NM_001259.6 311 Gat/Aat 0 -CDKN2A UCSF GRCh37 9 21971017 21971017 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 25 34 23 0 ENST00000304494.5:c.341C>T p.Pro114Leu p.P114L ENST00000304494 NM_000077.4 114 cCc/cTc 0 -CDYL2 UCSF GRCh37 16 80654695 80654695 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 18 42 0 ENST00000570137.2:c.972G>A p.Arg324= p.R324= ENST00000570137 NM_152342.2 324 cgG/cgA 0 -CEACAM16 UCSF GRCh37 19 45208927 45208927 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 46 71 0 ENST00000405314.2:c.729C>T p.Asp243= p.D243= ENST00000405314 243 gaC/gaT 0 -CEACAM5 UCSF GRCh37 19 42224071 42224071 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 121 81 185 0 ENST00000221992.6:c.1715G>A p.Gly572Glu p.G572E ENST00000221992 NM_004363.2 572 gGa/gAa 0 -CECR2 UCSF GRCh37 22 18018789 18018789 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 133 106 179 0 ENST00000342247.5:c.1326G>A p.Lys442= p.K442= ENST00000342247 442 aaG/aaA 0 -CELF2 UCSF GRCh37 10 11367840 11367840 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 43 70 0 ENST00000416382.2:c.1297G>A p.Glu433Lys p.E433K ENST00000416382 433 Gaa/Aaa 0 -CELF4 UCSF GRCh37 18 34850748 34850748 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 22 40 0 ENST00000420428.2:c.1082G>A p.Gly361Asp p.G361D ENST00000420428 NM_020180.3 361 gGc/gAc 0 -CELSR1 UCSF GRCh37 22 46794525 46794525 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 16 26 30 0 ENST00000262738.3:c.5422G>A p.Asp1808Asn p.D1808N ENST00000262738 NM_014246.1 1808 Gat/Aat 0 -CELSR3 UCSF GRCh37 3 48677633 48677633 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 40 28 0 ENST00000164024.4:c.9385G>A p.Asp3129Asn p.D3129N ENST00000164024 NM_001407.2 3129 Gac/Aac 0 -CENPE UCSF GRCh37 4 104102587 104102587 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 28 33 0 ENST00000265148.3:c.990G>A p.Lys330= p.K330= ENST00000265148 NM_001813.2 330 aaG/aaA 0 -CENPJ UCSF GRCh37 13 25458563 25458563 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 24 52 0 ENST00000381884.4:c.3516G>A p.Leu1172= p.L1172= ENST00000381884 NM_018451.4 1172 ctG/ctA 0 -CENPT UCSF GRCh37 16 67865247 67865247 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 100 32 52 0 ENST00000440851.2:c.575C>T p.Thr192Ile p.T192I ENST00000440851 192 aCc/aTc 0 -CEP104 UCSF GRCh37 1 3768942 3768942 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 27 36 0 ENST00000378230.3:c.30C>T p.Val10= p.V10= ENST00000378230 NM_014704.3 10 gtC/gtT 0 -CEP128 UCSF GRCh37 14 80993238 80993238 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 22 52 0 ENST00000281129.3:c.3047C>T p.Thr1016Ile p.T1016I ENST00000281129 NM_152446.3 1016 aCc/aTc 0 -CEP250 UCSF GRCh37 20 34057745 34057745 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 61 62 0 ENST00000397527.1:c.882G>A p.Gln294= p.Q294= ENST00000397527 NM_007186.3 294 caG/caA 0 -CEP290 UCSF GRCh37 12 88505548 88505548 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 25 23 0 ENST00000552810.1:c.2140G>A p.Glu714Lys p.E714K ENST00000552810 NM_025114.3 714 Gaa/Aaa 0 -CHAC1 UCSF GRCh37 15 41247886 41247886 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 65 35 0 ENST00000446533.3:c.709G>A p.Asp237Asn p.D237N ENST00000446533 NM_024111.3 237 Gac/Aac 0 -CHD1L UCSF GRCh37 1 146740464 146740464 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 22 31 0 ENST00000369258.4:c.1012G>A p.Val338Ile p.V338I ENST00000369258 NM_001256336.1 338 Gtt/Att 0 -CHD5 UCSF GRCh37 1 6211163 6211163 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 25 60 0 ENST00000262450.3:c.923G>A p.Ser308Asn p.S308N ENST00000262450 NM_015557.2 308 aGt/aAt 0 -CHD8 UCSF GRCh37 14 21870663 21870663 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 80 26 114 0 ENST00000399982.2:c.3715-1G>A p.X1239_splice ENST00000399982 NM_001170629.1 0 -CHI3L2 UCSF GRCh37 1 111781386 111781386 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 32 82 0 ENST00000369748.4:c.750G>A p.Gly250= p.G250= ENST00000369748 NM_004000.2 250 ggG/ggA 0 -CHRD UCSF GRCh37 3 184107167 184107167 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 8 8 23 0 ENST00000204604.1:c.2825C>T p.Thr942Ile p.T942I ENST00000204604 NM_003741.2 942 aCc/aTc 0 -CHRM1 UCSF GRCh37 11 62677223 62677223 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 85 30 0 ENST00000306960.3:c.1350C>T p.Gly450= p.G450= ENST00000306960 NM_000738.2 450 ggC/ggT 0 -CHRM3 UCSF GRCh37 1 240071285 240071285 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 95 63 110 0 ENST00000255380.4:c.534C>T p.Ala178= p.A178= ENST00000255380 NM_000740.2 178 gcC/gcT 0 -CHRM5 UCSF GRCh37 15 34355661 34355661 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 84 94 0 ENST00000383263.5:c.743C>T p.Ala248Val p.A248V ENST00000383263 NM_012125.3 248 gCt/gTt 0 -CHRNA2 UCSF GRCh37 8 27320517 27320517 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 153 88 63 0 ENST00000407991.1:c.1443G>A p.Arg481= p.R481= ENST00000407991 NM_000742.3 481 cgG/cgA 0 -CHRNE UCSF GRCh37 17 4802823 4802823 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 17 10 0 ENST00000293780.4:c.972C>T p.Ile324= p.I324= ENST00000293780 NM_000080.3 324 atC/atT 0 -CHTOP UCSF GRCh37 1 153610925 153610925 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 28 75 0 ENST00000368694.3:c.219+1G>A p.X73_splice ENST00000368694 NM_001206612.1 0 -CHURC1-FNTB UCSF GRCh37 14 65507588 65507588 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 81 32 81 0 ENST00000246166.2:c.773C>T p.Ala258Val p.A258V ENST00000246166 NM_002028.3 258 gCg/gTg 0 -CIDEC UCSF GRCh37 3 9911904 9911904 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 23 51 0 ENST00000336832.2:c.310G>A p.Asp104Asn p.D104N ENST00000336832 NM_022094.3 104 Gat/Aat 0 -CIDEC UCSF GRCh37 3 9911985 9911985 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 33 68 1 ENST00000336832.2:c.229G>A p.Ala77Thr p.A77T ENST00000336832 NM_022094.3 77 Gca/Aca 0 -CIT UCSF GRCh37 12 120148087 120148087 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 68 62 99 0 ENST00000261833.7:c.4914C>G p.Ile1638Met p.I1638M ENST00000261833 NM_007174.2 1638 atC/atG 0 -CIT UCSF GRCh37 12 120198744 120198744 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 158 37 133 0 ENST00000261833.7:c.2294C>T p.Ala765Val p.A765V ENST00000261833 NM_007174.2 765 gCg/gTg 0 -CLASRP UCSF GRCh37 19 45563647 45563647 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 30 37 0 ENST00000221455.3:c.711G>A p.Arg237= p.R237= ENST00000221455 NM_007056.2 237 agG/agA 0 -CLCA4 UCSF GRCh37 1 87041026 87041026 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 33 67 0 ENST00000370563.3:c.1695G>A p.Trp565Ter p.W565* ENST00000370563 NM_012128.3 565 tgG/tgA 0 -CLCN2 UCSF GRCh37 3 184071508 184071508 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 9 9 0 ENST00000265593.4:c.1797C>T p.Asp599= p.D599= ENST00000265593 NM_004366.5 599 gaC/gaT 0 -CLCN6 UCSF GRCh37 1 11897461 11897461 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 120 66 71 0 ENST00000346436.6:c.2200G>A p.Glu734Lys p.E734K ENST00000346436 NM_001286.3 734 Gag/Aag 0 -CLCN7 UCSF GRCh37 16 1505749 1505749 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 44 21 35 0 ENST00000382745.4:c.964T>C p.Phe322Leu p.F322L ENST00000382745 NM_001287.5 322 Ttc/Ctc 0 -CLDN12 UCSF GRCh37 7 90042082 90042082 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 152 52 97 0 ENST00000287916.4:c.92C>T p.Pro31Leu p.P31L ENST00000287916 NM_001185073.2 31 cCc/cTc 0 -CLDN14 UCSF GRCh37 21 37833860 37833860 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 13 12 0 ENST00000342108.2:c.134C>T p.Ser45Phe p.S45F ENST00000342108 NM_001146077.1 45 tCc/tTc 0 -CLDN25 UCSF GRCh37 11 113651156 113651156 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 44 57 0 ENST00000453129.2:c.639G>A p.Glu213= p.E213= ENST00000453129 NM_001101389.1 213 gaG/gaA 0 -CLDN3 UCSF GRCh37 7 73183997 73183997 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 24 14 0 ENST00000395145.2:c.383C>T p.Ala128Val p.A128V ENST00000395145 NM_001306.3 128 gCc/gTc 0 -CLEC14A UCSF GRCh37 14 38723923 38723923 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 46 61 0 ENST00000342213.2:c.1305G>A p.Lys435= p.K435= ENST00000342213 NM_175060.2 435 aaG/aaA 0 -CLEC4F UCSF GRCh37 2 71046551 71046551 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 5 28 0 ENST00000272367.2:c.204G>A p.Pro68= p.P68= ENST00000272367 NM_001258027.1 68 ccG/ccA 0 -CLIC2 UCSF GRCh37 X 154528171 154528171 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 20 46 56 0 ENST00000369449.2:c.220G>A p.Val74Met p.V74M ENST00000369449 NM_001289.4 74 Gtg/Atg 0 -CLIC3 UCSF GRCh37 9 139889703 139889703 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 30 13 0 ENST00000494426.1:c.311C>T p.Ala104Val p.A104V ENST00000494426 NM_004669.2 104 gCc/gTc 0 -CLIP1 UCSF GRCh37 12 122825965 122825965 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 167 57 143 0 ENST00000540338.1:c.1786G>A p.Glu596Lys p.E596K ENST00000540338 596 Gaa/Aaa 0 -CLMN UCSF GRCh37 14 95688111 95688111 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 12 40 0 ENST00000298912.4:c.241C>T p.Leu81= p.L81= ENST00000298912 NM_024734.3 81 Ctg/Ttg 0 -CLOCK UCSF GRCh37 4 56308688 56308688 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 29 45 0 ENST00000309964.4:c.2016C>T p.Ala672= p.A672= ENST00000309964 NM_004898.3 672 gcC/gcT 0 -CLPB UCSF GRCh37 11 72012915 72012915 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 96 136 0 ENST00000294053.3:c.1351G>A p.Val451Met p.V451M ENST00000294053 NM_001258394.1 451 Gtg/Atg 0 -CLPTM1L UCSF GRCh37 5 1339018 1339018 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 70 43 30 0 ENST00000320895.5:c.556G>A p.Asp186Asn p.D186N ENST00000320895 NM_030782.3 186 Gac/Aac 0 -CLPX UCSF GRCh37 15 65459022 65459022 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 105 68 111 0 ENST00000300107.3:c.460G>A p.Ala154Thr p.A154T ENST00000300107 NM_006660.3 154 Gca/Aca 0 -CLTCL1 UCSF GRCh37 22 19222138 19222138 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 99 59 133 0 ENST00000427926.1:c.1061G>A p.Arg354His p.R354H ENST00000427926 354 cGt/cAt 0 -CMTM7 UCSF GRCh37 3 32493943 32493943 + missense_variant Missense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 135 42 112 0 ENST00000334983.5:c.492C>G p.Ile164Met p.I164M ENST00000334983 NM_138410.2 164 atC/atG 0 -CNGA1 UCSF GRCh37 4 47939410 47939410 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 136 77 163 0 ENST00000358519.4:c.1101C>T p.Pro367= p.P367= ENST00000358519 367 ccC/ccT 0 -CNGB1 UCSF GRCh37 16 57921761 57921761 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 124 52 70 0 ENST00000251102.8:c.3460C>T p.Gln1154Ter p.Q1154* ENST00000251102 NM_001297.4 1154 Cag/Tag 0 -CNKSR1 UCSF GRCh37 1 26510576 26510576 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 51 36 59 0 ENST00000374253.5:c.891C>T p.Val297= p.V297= ENST00000374253 NM_006314.2 297 gtC/gtT 0 -CNOT10 UCSF GRCh37 3 32761616 32761616 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 32 50 0 ENST00000328834.5:c.755C>T p.Ser252Phe p.S252F ENST00000328834 NM_015442.2 252 tCt/tTt 0 -CNOT2 UCSF GRCh37 12 70739975 70739975 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 40 32 74 0 ENST00000229195.3:c.1407G>A p.Trp469Ter p.W469* ENST00000229195 NM_014515.5 469 tgG/tgA 0 -CNTN4 UCSF GRCh37 3 2967424 2967424 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 120 64 110 0 ENST00000397461.1:c.1319C>T p.Thr440Ile p.T440I ENST00000397461 NM_001206955.1 440 aCc/aTc 0 -CNTNAP2 UCSF GRCh37 7 147092808 147092808 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 124 69 97 0 ENST00000361727.3:c.1606G>A p.Val536Met p.V536M ENST00000361727 NM_014141.5 536 Gtg/Atg 0 -CNTNAP2 UCSF GRCh37 7 146471385 146471385 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 9 18 0 ENST00000361727.3:c.120C>T p.Val40= p.V40= ENST00000361727 NM_014141.5 40 gtC/gtT 0 -CNTNAP3 UCSF GRCh37 9 39109170 39109170 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 43 127 0 ENST00000297668.6:c.2352C>T p.Leu784= p.L784= ENST00000297668 NM_033655.3 784 ctC/ctT 0 -CNTRL UCSF GRCh37 9 123922424 123922424 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 35 52 0 ENST00000238341.5:c.4933G>A p.Val1645Ile p.V1645I ENST00000238341 NM_007018.4 1645 Gta/Ata 0 -COG7 UCSF GRCh37 16 23409437 23409437 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 12 26 0 ENST00000307149.5:c.1817C>T p.Ala606Val p.A606V ENST00000307149 NM_153603.3 606 gCt/gTt 0 -COL11A1 UCSF GRCh37 1 103467488 103467488 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 27 62 0 ENST00000370096.3:c.2135G>A p.Gly712Asp p.G712D ENST00000370096 NM_001854.3 712 gGt/gAt 0 -COL11A2 UCSF GRCh37 6 33156946 33156946 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 43 20 43 0 ENST00000374708.4:c.252C>T p.Phe84= p.F84= ENST00000374708 NM_080681.2 84 ttC/ttT 0 -COL15A1 UCSF GRCh37 9 101785659 101785659 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 5 9 0 ENST00000375001.3:c.1782C>T p.Gly594= p.G594= ENST00000375001 NM_001855.4 594 ggC/ggT 0 -COL16A1 UCSF GRCh37 1 32120459 32120459 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 149 82 107 0 ENST00000373672.3:c.4291G>A p.Gly1431Arg p.G1431R ENST00000373672 NM_001856.3 1431 Gga/Aga 0 -COL1A1 UCSF GRCh37 17 48271324 48271324 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 24 49 0 ENST00000225964.5:c.1747C>T p.Pro583Ser p.P583S ENST00000225964 NM_000088.3 583 Cct/Tct 0 -COL28A1 UCSF GRCh37 7 7400059 7400059 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 18 51 0 ENST00000399429.3:c.3167C>T p.Pro1056Leu p.P1056L ENST00000399429 NM_001037763.2 1056 cCc/cTc 0 -COL2A1 UCSF GRCh37 12 48388219 48388219 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 7 23 0 ENST00000380518.3:c.804G>A p.Pro268= p.P268= ENST00000380518 NM_033150.2 268 ccG/ccA 0 -COL3A1 UCSF GRCh37 2 189855065 189855065 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 16 37 0 ENST00000304636.3:c.777C>T p.Phe259= p.F259= ENST00000304636 NM_000090.3 259 ttC/ttT 0 -COL5A1 UCSF GRCh37 9 137646141 137646141 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 30 35 0 ENST00000371817.3:c.1796C>T p.Pro599Leu p.P599L ENST00000371817 NM_001278074.1 599 cCg/cTg 0 -COL5A1 UCSF GRCh37 9 137727017 137727017 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 19 16 0 ENST00000371817.3:c.5337C>T p.Asn1779= p.N1779= ENST00000371817 NM_001278074.1 1779 aaC/aaT 0 -COL5A2 UCSF GRCh37 2 189928723 189928723 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 14 15 0 ENST00000374866.3:c.1753G>A p.Gly585Arg p.G585R ENST00000374866 NM_000393.3 585 Gga/Aga 0 -COL5A3 UCSF GRCh37 19 10116849 10116849 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 18 14 0 ENST00000264828.3:c.147G>A p.Glu49= p.E49= ENST00000264828 NM_015719.3 49 gaG/gaA 0 -COL7A1 UCSF GRCh37 3 48618048 48618048 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 14 17 0 ENST00000328333.8:c.5018G>A p.Gly1673Glu p.G1673E ENST00000328333 NM_000094.3 1673 gGa/gAa 0 -COL7A1 UCSF GRCh37 3 48623045 48623045 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 112 42 80 0 ENST00000328333.8:c.3839C>T p.Thr1280Ile p.T1280I ENST00000328333 NM_000094.3 1280 aCc/aTc 0 -COL7A1 UCSF GRCh37 3 48610990 48610990 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 21 52 0 ENST00000328333.8:c.6574G>A p.Gly2192Ser p.G2192S ENST00000328333 NM_000094.3 2192 Ggt/Agt 0 -COMP UCSF GRCh37 19 18900034 18900034 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 27 5 9 0 ENST00000222271.2:c.463C>T p.Pro155Ser p.P155S ENST00000222271 NM_000095.2 155 Ccg/Tcg 0 -COPG2 UCSF GRCh37 7 130297051 130297051 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 93 39 52 0 ENST00000445977.2:c.551C>T p.Ala184Val p.A184V ENST00000445977 184 gCt/gTt 0 -COQ10B UCSF GRCh37 2 198327456 198327456 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 40 92 0 ENST00000263960.2:c.447+1G>A p.X149_splice ENST00000263960 NM_025147.3 0 -CORO1B UCSF GRCh37 11 67210034 67210034 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 56 42 0 ENST00000341356.5:c.66C>T p.Asn22= p.N22= ENST00000341356 NM_020441.2 22 aaC/aaT 0 -CPA1 UCSF GRCh37 7 130024402 130024402 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 31 59 0 ENST00000011292.3:c.722C>T p.Ser241Phe p.S241F ENST00000011292 NM_001868.2 241 tCc/tTc 0 -CPA2 UCSF GRCh37 7 129910532 129910532 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 26 48 0 ENST00000222481.4:c.289-1G>A p.X97_splice ENST00000222481 NM_001869.2 0 -CPA6 UCSF GRCh37 8 68423853 68423853 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 135 83 171 0 ENST00000297770.4:c.355G>A p.Gly119Arg p.G119R ENST00000297770 NM_020361.4 119 Gga/Aga 0 -CPEB2 UCSF GRCh37 4 15067995 15067995 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 24 20 0 ENST00000507071.1:c.1761C>T p.Arg587= p.R587= ENST00000507071 587 cgC/cgT 0 -CPLX4 UCSF GRCh37 18 56963995 56963995 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 15 48 0 ENST00000299721.3:c.418G>A p.Glu140Lys p.E140K ENST00000299721 NM_181654.3 140 Gaa/Aaa 0 -CPN1 UCSF GRCh37 10 101841302 101841302 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 8 18 36 0 ENST00000370418.3:c.81C>T p.Arg27= p.R27= ENST00000370418 NM_001308.2 27 cgC/cgT 0 -CPNE4 UCSF GRCh37 3 131261584 131261584 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 20 75 0 ENST00000429747.1:c.1356C>T p.Asp452= p.D452= ENST00000429747 NM_130808.1 452 gaC/gaT 0 -CPNE7 UCSF GRCh37 16 89655150 89655150 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 20 18 0 ENST00000268720.5:c.1220C>T p.Pro407Leu p.P407L ENST00000268720 NM_014427.4 407 cCc/cTc 0 -CPNE7 UCSF GRCh37 16 89655121 89655121 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 19 20 0 ENST00000268720.5:c.1191G>A p.Arg397= p.R397= ENST00000268720 NM_014427.4 397 cgG/cgA 0 -CPNE9 UCSF GRCh37 3 9759751 9759751 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 94 24 62 0 ENST00000383832.3:c.970C>T p.Pro324Ser p.P324S ENST00000383832 NM_153635.2 324 Ccc/Tcc 0 -CPO UCSF GRCh37 2 207827203 207827203 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 137 52 94 0 ENST00000272852.3:c.642G>A p.Glu214= p.E214= ENST00000272852 NM_173077.2 214 gaG/gaA 0 -CPS1 UCSF GRCh37 2 211540487 211540487 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 30 47 0 ENST00000233072.5:c.4197C>T p.Asn1399= p.N1399= ENST00000233072 NM_001875.4 1399 aaC/aaT 0 -CPSF2 UCSF GRCh37 14 92625468 92625468 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 29 102 0 ENST00000298875.4:c.1963G>A p.Asp655Asn p.D655N ENST00000298875 NM_017437.2 655 Gat/Aat 0 -CPSF3 UCSF GRCh37 2 9568931 9568931 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 32 21 0 ENST00000238112.3:c.88C>T p.Leu30Phe p.L30F ENST00000238112 NM_016207.3 30 Ctc/Ttc 0 -CR2 UCSF GRCh37 1 207644796 207644796 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 28 72 0 ENST00000367058.3:c.1522G>A p.Glu508Lys p.E508K ENST00000367058 NM_001877.4 508 Gag/Aag 0 -CRB1 UCSF GRCh37 1 197297784 197297784 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 29 48 0 ENST00000367400.3:c.303G>A p.Gly101= p.G101= ENST00000367400 NM_201253.2 101 ggG/ggA 0 -CRB2 UCSF GRCh37 9 126133407 126133407 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 195 136 98 0 ENST00000373631.3:c.1986C>T p.Leu662= p.L662= ENST00000373631 NM_173689.5 662 ctC/ctT 0 -CREB3L3 UCSF GRCh37 19 4157196 4157196 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 32 36 0 ENST00000078445.2:c.361G>A p.Gly121Arg p.G121R ENST00000078445 NM_032607.2 121 Ggg/Agg 0 -CREB5 UCSF GRCh37 7 28527801 28527801 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 173 51 96 0 ENST00000357727.2:c.12G>A p.Glu4= p.E4= ENST00000357727 NM_182898.2 4 gaG/gaA 0 -CREBBP UCSF GRCh37 16 3900677 3900677 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 38 40 0 ENST00000262367.5:c.419C>T p.Thr140Ile p.T140I ENST00000262367 NM_004380.2 140 aCc/aTc 0 -CRHR2 UCSF GRCh37 7 30702446 30702446 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 18 25 0 ENST00000471646.1:c.561C>T p.Ile187= p.I187= ENST00000471646 NM_001202483.1 187 atC/atT 0 -CRNN UCSF GRCh37 1 152384651 152384651 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 97 43 79 0 ENST00000271835.3:c.59G>A p.Arg20Lys p.R20K ENST00000271835 NM_016190.2 20 aGg/aAg 0 -CROCC UCSF GRCh37 1 17263217 17263217 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 17 11 0 ENST00000375541.5:c.1042C>T p.Leu348= p.L348= ENST00000375541 NM_014675.3 348 Ctg/Ttg 0 -CRTC2 UCSF GRCh37 1 153930932 153930932 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 18 9 0 ENST00000368633.1:c.42C>T p.Ala14= p.A14= ENST00000368633 NM_181715.2 14 gcC/gcT 0 -CRTC3 UCSF GRCh37 15 91184367 91184367 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 18 31 0 ENST00000268184.6:c.1587C>T p.Asp529= p.D529= ENST00000268184 529 gaC/gaT 0 -CRYGS UCSF GRCh37 3 186257318 186257318 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 31 38 0 ENST00000307944.5:c.90C>T p.Phe30= p.F30= ENST00000307944 30 ttC/ttT 0 -CSNK1A1L UCSF GRCh37 13 37678549 37678549 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 149 85 162 0 ENST00000379800.3:c.845G>A p.Arg282His p.R282H ENST00000379800 NM_145203.5 282 cGc/cAc 0 -CTBS UCSF GRCh37 1 85020795 85020795 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 45 77 0 ENST00000370630.5:c.1045C>T p.Arg349Trp p.R349W ENST00000370630 NM_004388.2 349 Cgg/Tgg 0 -CTNNA1 UCSF GRCh37 5 138223181 138223181 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 43 98 0 ENST00000302763.7:c.1146C>T p.Leu382= p.L382= ENST00000302763 NM_001903.2 382 ctC/ctT 0 -CTNNA2 UCSF GRCh37 2 79971605 79971605 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 21 33 0 ENST00000402739.4:c.195G>A p.Glu65= p.E65= ENST00000402739 NM_001282597.1 65 gaG/gaA 0 -CTTNBP2 UCSF GRCh37 7 117417811 117417811 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 130 156 69 0 ENST00000160373.3:c.2532G>A p.Trp844Ter p.W844* ENST00000160373 NM_033427.2 844 tgG/tgA 0 -CTU2 UCSF GRCh37 16 88780546 88780546 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 117 26 27 0 ENST00000453996.2:c.1008C>T p.Ala336= p.A336= ENST00000453996 NM_001012759.1 336 gcC/gcT 0 -CUBN UCSF GRCh37 10 17126431 17126431 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 33 46 0 ENST00000377833.4:c.2140G>A p.Asp714Asn p.D714N ENST00000377833 NM_001081.3 714 Gac/Aac 0 -CUL9 UCSF GRCh37 6 43155750 43155750 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 18 55 0 ENST00000252050.4:c.1881G>A p.Lys627= p.K627= ENST00000252050 NM_015089.2 627 aaG/aaA 0 -CWC27 UCSF GRCh37 5 64096076 64096076 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 26 55 0 ENST00000381070.3:c.671G>A p.Ser224Asn p.S224N ENST00000381070 NM_005869.2 224 aGc/aAc 0 -CWF19L1 UCSF GRCh37 10 102016038 102016038 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 42 58 0 ENST00000354105.4:c.485G>A p.Gly162Glu p.G162E ENST00000354105 NM_018294.4 162 gGg/gAg 0 -CWH43 UCSF GRCh37 4 49032932 49032932 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 116 56 110 0 ENST00000226432.4:c.1463G>A p.Gly488Asp p.G488D ENST00000226432 NM_025087.2 488 gGt/gAt 0 -CWH43 UCSF GRCh37 4 49032978 49032978 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 58 117 0 ENST00000226432.4:c.1508+1G>A p.X503_splice ENST00000226432 NM_025087.2 0 -CXXC1 UCSF GRCh37 18 47812419 47812419 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 129 71 58 0 ENST00000285106.6:c.432G>A p.Pro144= p.P144= ENST00000285106 NM_001101654.1 144 ccG/ccA 0 -CYB5R2 UCSF GRCh37 11 7686718 7686718 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 14 19 23 0 ENST00000299498.6:c.718C>T p.Pro240Ser p.P240S ENST00000299498 NM_016229.3 240 Cca/Tca 0 -CYFIP1 UCSF GRCh37 15 22999357 22999357 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 32 41 0 ENST00000313077.7:c.3229G>A p.Glu1077Lys p.E1077K ENST00000313077 NM_014608.2 1077 Gag/Aag 0 -ZFTRAF1 UCSF GRCh37 8 145689659 145689659 + intron_variant Intron DEL C C - NOVEL P05_Rec Untested WXS Illumina HiSeq 6 0 ENST00000438911.2:c.246+184del *82* ENST00000438911 NM_138496.1 0 -CYLC1 UCSF GRCh37 X 83128720 83128720 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 37 80 0 ENST00000329312.4:c.1004C>T p.Ala335Val p.A335V ENST00000329312 NM_021118.2 335 gCt/gTt 0 -CYLC1 UCSF GRCh37 X 83128100 83128100 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 25 41 0 ENST00000329312.4:c.384G>A p.Lys128= p.K128= ENST00000329312 NM_021118.2 128 aaG/aaA 0 -CYP1A1 UCSF GRCh37 15 75013789 75013789 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 31 58 0 ENST00000379727.3:c.1008C>T p.Asn336= p.N336= ENST00000379727 336 aaC/aaT 0 -CYP46A1 UCSF GRCh37 14 100184439 100184439 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 14 51 0 ENST00000261835.3:c.956C>T p.Ser319Phe p.S319F ENST00000261835 NM_006668.1 319 tCt/tTt 0 -CYP4X1 UCSF GRCh37 1 47501585 47501585 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 42 84 0 ENST00000371901.3:c.600G>A p.Glu200= p.E200= ENST00000371901 NM_178033.1 200 gaG/gaA 0 -DAGLA UCSF GRCh37 11 61495691 61495691 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 109 72 46 0 ENST00000257215.5:c.703G>A p.Asp235Asn p.D235N ENST00000257215 NM_006133.2 235 Gac/Aac 0 -DAO UCSF GRCh37 12 109290787 109290787 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 14 61 0 ENST00000228476.3:c.618C>T p.Asp206= p.D206= ENST00000228476 NM_001917.4 206 gaC/gaT 0 -DAPK1 UCSF GRCh37 9 90252979 90252979 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 25 67 0 ENST00000358077.5:c.406G>A p.Ala136Thr p.A136T ENST00000358077 NM_001288731.1 136 Gcc/Acc 0 -DAXX UCSF GRCh37 6 33289312 33289312 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 94 61 67 0 ENST00000266000.6:c.240C>T p.Asp80= p.D80= ENST00000266000 80 gaC/gaT 0 -DBH UCSF GRCh37 9 136513028 136513028 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0020,snp132_rs75215331 P05_Rec Untested WXS Illumina HiSeq 52 21 30 0 ENST00000393056.2:c.1085C>T p.Ala362Val p.A362V ENST00000393056 NM_000787.3 362 gCg/gTg 0 -DBH UCSF GRCh37 9 136523486 136523486 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 172 61 33 0 ENST00000393056.2:c.1771G>A p.Glu591Lys p.E591K ENST00000393056 NM_000787.3 591 Gag/Aag 0 -DCAF17 UCSF GRCh37 2 172337616 172337616 + missense_variant Missense_Mutation SNP A A T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 47 84 0 ENST00000375255.3:c.1555A>T p.Ser519Cys p.S519C ENST00000375255 NM_025000.3 519 Agc/Tgc 0 -DCAF4 UCSF GRCh37 14 73406608 73406608 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 17 6 12 0 ENST00000358377.2:c.191C>T p.Pro64Leu p.P64L ENST00000358377 NM_001163509.1 64 cCa/cTa 0 -DCAF4 UCSF GRCh37 14 73425453 73425453 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 56 54 0 ENST00000358377.2:c.1428G>A p.Arg476= p.R476= ENST00000358377 NM_001163509.1 476 cgG/cgA 0 -DCAF4L2 UCSF GRCh37 8 88885864 88885864 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 122 66 75 0 ENST00000319675.3:c.336C>T p.Leu112= p.L112= ENST00000319675 NM_152418.3 112 ctC/ctT 0 -DCAF5 UCSF GRCh37 14 69520872 69520872 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 25 41 0 ENST00000341516.5:c.2531C>T p.Pro844Leu p.P844L ENST00000341516 NM_003861.2 844 cCt/cTt 0 -DCAF6 UCSF GRCh37 1 168035641 168035641 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 34 16 0 ENST00000312263.6:c.2350G>A p.Asp784Asn p.D784N ENST00000312263 NM_001017977.2 784 Gac/Aac 0 -DCAF7 UCSF GRCh37 17 61661012 61661012 + intron_variant Intron SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 94 57 98 0 ENST00000431926.1:c.435+3801G>A *145* ENST00000431926 0 -DCC UCSF GRCh37 18 50731599 50731599 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 167 86 153 0 ENST00000442544.2:c.1587G>A p.Gly529= p.G529= ENST00000442544 NM_005215.3 529 ggG/ggA 0 -DCHS2 UCSF GRCh37 4 155157309 155157309 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 24 46 69 0 ENST00000357232.4:c.7130G>A p.Gly2377Glu p.G2377E ENST00000357232 NM_017639.3 2377 gGg/gAg 0 -DDAH2 UCSF GRCh37 6 31696918 31696918 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 79 56 43 0 ENST00000375787.2:c.21G>A p.Gly7= p.G7= ENST00000375787 NM_013974.1 7 ggG/ggA 0 -DDB1 UCSF GRCh37 11 61089873 61089873 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 88 36 90 0 ENST00000301764.7:c.1017C>T p.Asp339= p.D339= ENST00000301764 NM_001923.4 339 gaC/gaT 0 -DDHD1 UCSF GRCh37 14 53513646 53513646 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 39 34 58 0 ENST00000323669.5:c.2543A>C p.Asp848Ala p.D848A ENST00000323669 NM_001160148.1 848 gAt/gCt 0 -DDN UCSF GRCh37 12 49390988 49390988 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 7 11 0 ENST00000421952.2:c.1671C>T p.Asn557= p.N557= ENST00000421952 NM_015086.1 557 aaC/aaT 0 -DDX10 UCSF GRCh37 11 108547856 108547856 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 115 51 80 0 ENST00000322536.3:c.423G>A p.Gly141= p.G141= ENST00000322536 NM_004398.2 141 ggG/ggA 0 -DDX11 UCSF GRCh37 12 31237978 31237978 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.161,1000g2011may_all_0.2074,snp132_rs74087925 P05_Rec Untested WXS Illumina HiSeq 37 14 16 1 ENST00000545668.1:c.556C>T p.Arg186Trp p.R186W ENST00000545668 NM_001257144.1 186 Cgg/Tgg 0 -DDX11 UCSF GRCh37 12 31236773 31236773 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 86 122 0 ENST00000545668.1:c.171G>A p.Gly57= p.G57= ENST00000545668 NM_001257144.1 57 ggG/ggA 0 -DDX39A UCSF GRCh37 19 14520440 14520440 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 46 44 1 ENST00000242776.4:c.882G>A p.Lys294= p.K294= ENST00000242776 NM_005804.3 294 aaG/aaA 0 -DDX42 UCSF GRCh37 17 61894274 61894274 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 12 52 0 ENST00000389924.2:c.2060C>T p.Pro687Leu p.P687L ENST00000389924 NM_203499.2 687 cCt/cTt 0 -DDX42 UCSF GRCh37 17 61894288 61894288 + missense_variant Missense_Mutation SNP A A T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 11 47 0 ENST00000389924.2:c.2074A>T p.Met692Leu p.M692L ENST00000389924 NM_203499.2 692 Atg/Ttg 0 -DDX55 UCSF GRCh37 12 124093278 124093278 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 119 47 103 0 ENST00000238146.4:c.453G>A p.Arg151= p.R151= ENST00000238146 NM_020936.1 151 agG/agA 0 -DEM1 UCSF GRCh37 1 40980565 40980565 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 51 87 0 ENST00000296380.4:c.349G>A p.Gly117Ser p.G117S ENST00000296380 NM_022774.1 117 Ggt/Agt 0 -DENND1A UCSF GRCh37 9 126554866 126554866 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 20 34 0 ENST00000373624.2:c.132G>A p.Gln44= p.Q44= ENST00000373624 NM_020946.1 44 caG/caA 0 -DENND2C UCSF GRCh37 1 115151491 115151491 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 52 24 71 0 ENST00000393274.1:c.1373G>A p.Arg458His p.R458H ENST00000393274 NM_001256404.1 458 cGc/cAc 0 -DENMT-ND3 UCSF GRCh37 8 142175334 142175334 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 100 47 92 0 ENST00000262585.2:c.1259G>A p.Arg420Lys p.R420K ENST00000262585 NM_014957.2 420 aGg/aAg 0 -DENMT-ND3 UCSF GRCh37 8 142151382 142151382 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 44 39 0 ENST00000262585.2:c.342C>T p.Ser114= p.S114= ENST00000262585 NM_014957.2 114 tcC/tcT 0 -DENND4C UCSF GRCh37 9 19372071 19372071 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 73 94 0 ENST00000602925.1:c.5630G>A p.Ser1877Asn p.S1877N ENST00000602925 NM_017925.5 1877 aGt/aAt 0 -DGCR2 UCSF GRCh37 22 19026602 19026602 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 28 26 0 ENST00000263196.7:c.1429C>T p.Leu477= p.L477= ENST00000263196 NM_001184781.1 477 Ctg/Ttg 0 -DHCR7 UCSF GRCh37 11 71149986 71149986 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 43 37 21 0 ENST00000355527.3:c.770C>T p.Ala257Val p.A257V ENST00000355527 NM_001360.2 257 gCg/gTg 0 -DHRS2 UCSF GRCh37 14 24108207 24108207 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 110 110 71 0 ENST00000250383.6:c.134C>T p.Thr45Ile p.T45I ENST00000250383 NM_005794.3 45 aCc/aTc 0 -DHTKD1 UCSF GRCh37 10 12136143 12136143 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 31 72 0 ENST00000263035.4:c.1231C>T p.Leu411= p.L411= ENST00000263035 NM_018706.6 411 Ctg/Ttg 0 -DHX37 UCSF GRCh37 12 125460028 125460028 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 19 23 0 ENST00000308736.2:c.917C>T p.Pro306Leu p.P306L ENST00000308736 NM_032656.3 306 cCc/cTc 0 -DIAPH1 UCSF GRCh37 5 140953776 140953776 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 13 20 27 0 ENST00000389054.3:c.1642-1G>A p.X548_splice ENST00000389054 0 -DIDO1 UCSF GRCh37 20 61528154 61528154 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 92 63 48 0 ENST00000266070.4:c.1783C>T p.Pro595Ser p.P595S ENST00000266070 NM_033081.2 595 Ccc/Tcc 0 -DIO1 UCSF GRCh37 1 54371821 54371821 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 22 40 0 ENST00000361921.3:c.535G>A p.Asp179Asn p.D179N ENST00000361921 NM_213593.3 179 Gat/Aat 0 -DIO3 UCSF GRCh37 14 102027864 102027864 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 18 16 0 ENST00000510508.4:c.31G>A p.Val11Ile p.V11I ENST00000510508 11 Gtc/Atc 0 -DIP2A UCSF GRCh37 21 47978178 47978178 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 32 17 0 ENST00000417564.2:c.3841G>A p.Val1281Ile p.V1281I ENST00000417564 1281 Gtc/Atc 0 -DIP2C UCSF GRCh37 10 518451 518451 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 100 55 34 0 ENST00000280886.6:c.196G>A p.Val66Ile p.V66I ENST00000280886 NM_014974.2 66 Gtc/Atc 0 -DISC1 UCSF GRCh37 1 232144796 232144796 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 46 74 0 ENST00000439617.2:c.2307+1G>A p.X769_splice ENST00000439617 NM_001164540.1 0 -DLC1 UCSF GRCh37 8 12957327 12957327 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 50 57 0 ENST00000276297.4:c.2519C>T p.Thr840Met p.T840M ENST00000276297 NM_182643.2 840 aCg/aTg 0 -DLG3 UCSF GRCh37 X 69670031 69670031 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 16 15 18 0 ENST00000374360.3:c.716G>A p.Ser239Asn p.S239N ENST00000374360 NM_021120.3 239 aGc/aAc 0 -DMXL2 UCSF GRCh37 15 51773611 51773611 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 167 89 115 0 ENST00000251076.5:c.5692C>T p.Pro1898Ser p.P1898S ENST00000251076 NM_015263.3 1898 Cct/Tct 0 -DNAAF1 UCSF GRCh37 16 84211350 84211350 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 114 54 44 0 ENST00000378553.5:c.2081C>T p.Ala694Val p.A694V ENST00000378553 NM_178452.4 694 gCc/gTc 0 -DNAH1 UCSF GRCh37 3 52430684 52430684 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.003,1000g2011may_all_0.0054 P05_Rec Untested WXS Illumina HiSeq 88 21 83 0 ENST00000420323.2:c.11481C>T p.Asn3827= p.N3827= ENST00000420323 NM_015512.4 3827 aaC/aaT 0 -DNAH10 UCSF GRCh37 12 124285920 124285920 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 146 62 102 0 ENST00000409039.3:c.2201C>T p.Ser734Phe p.S734F ENST00000409039 NM_207437.3 734 tCc/tTc 0 -DNAH10 UCSF GRCh37 12 124401178 124401178 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 155 56 99 0 ENST00000409039.3:c.10543G>A p.Glu3515Lys p.E3515K ENST00000409039 NM_207437.3 3515 Gaa/Aaa 0 -DNAH10 UCSF GRCh37 12 124352656 124352656 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 20 33 0 ENST00000409039.3:c.7155G>A p.Gly2385= p.G2385= ENST00000409039 NM_207437.3 2385 ggG/ggA 0 -DNAH12 UCSF GRCh37 3 57356463 57356463 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 111 33 102 0 ENST00000351747.2:c.7828C>T p.Pro2610Ser p.P2610S ENST00000351747 NM_178504.4 2610 Ccc/Tcc 0 -DNAH14 UCSF GRCh37 1 225152200 225152200 + synonymous_variant Silent SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 63 42 60 0 ENST00000445597.2:c.768G>C p.Val256= p.V256= ENST00000445597 256 gtG/gtC 0 -DNAH17 UCSF GRCh37 17 76554320 76554320 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 42 128 0 ENST00000389840.5:c.2048G>A p.Arg683Lys p.R683K ENST00000389840 683 aGa/aAa 0 -DNAH17 UCSF GRCh37 17 76421649 76421649 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 38 17 0 ENST00000389840.5:c.12988C>T p.Leu4330Phe p.L4330F ENST00000389840 4330 Ctc/Ttc 0 -DNAH2 UCSF GRCh37 17 7691239 7691239 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 46 51 0 ENST00000389173.2:c.6665G>A p.Cys2222Tyr p.C2222Y ENST00000389173 NM_020877.2 2222 tGc/tAc 0 -DNAH5 UCSF GRCh37 5 13891220 13891220 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 86 56 98 0 ENST00000265104.4:c.2442G>A p.Glu814= p.E814= ENST00000265104 NM_001369.2 814 gaG/gaA 0 -DNAH6 UCSF GRCh37 2 84931258 84931258 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 52 105 0 ENST00000237449.6:c.8297C>T p.Ala2766Val p.A2766V ENST00000237449 2766 gCt/gTt 0 -DNAH6 UCSF GRCh37 2 84848345 84848345 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 31 43 0 ENST00000237449.6:c.3823G>A p.Gly1275Ser p.G1275S ENST00000237449 1275 Ggc/Agc 0 -DNAH6 UCSF GRCh37 2 84915694 84915694 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 30 61 0 ENST00000237449.6:c.7269G>A p.Gln2423= p.Q2423= ENST00000237449 2423 caG/caA 0 -DNAH7 UCSF GRCh37 2 196738340 196738340 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 38 71 0 ENST00000312428.6:c.6365C>T p.Ser2122Phe p.S2122F ENST00000312428 NM_018897.2 2122 tCc/tTc 0 -DNAJC18 UCSF GRCh37 5 138755754 138755754 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 24 39 110 0 ENST00000302060.5:c.940G>A p.Glu314Lys p.E314K ENST00000302060 NM_152686.3 314 Gag/Aag 0 -DNAJC21 UCSF GRCh37 5 34945016 34945016 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 187 109 172 0 ENST00000342382.4:c.1028C>T p.Ala343Val p.A343V ENST00000342382 343 gCc/gTc 0 -DOCK11 UCSF GRCh37 X 117752562 117752562 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 42 82 0 ENST00000276202.7:c.3342C>T p.Phe1114= p.F1114= ENST00000276202 NM_144658.3 1114 ttC/ttT 0 -DOCK4 UCSF GRCh37 7 111387342 111387342 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 240 81 201 0 ENST00000437633.1:c.4547G>A p.Gly1516Asp p.G1516D ENST00000437633 NM_014705.3 1516 gGc/gAc 0 -DOCK4 UCSF GRCh37 7 111382189 111382189 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 161 78 123 0 ENST00000437633.1:c.4651-1G>A p.X1551_splice ENST00000437633 NM_014705.3 0 -DOCK6 UCSF GRCh37 19 11363181 11363181 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 125 68 134 0 ENST00000294618.7:c.354G>A p.Glu118= p.E118= ENST00000294618 NM_020812.3 118 gaG/gaA 0 -DOCK6 UCSF GRCh37 19 11325298 11325298 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 27 61 0 ENST00000294618.7:c.4134C>T p.Ala1378= p.A1378= ENST00000294618 NM_020812.3 1378 gcC/gcT 0 -DOCK6 UCSF GRCh37 19 11339673 11339673 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 13 17 0 ENST00000294618.7:c.2757C>T p.Ser919= p.S919= ENST00000294618 NM_020812.3 919 agC/agT 0 -DOLPP1 UCSF GRCh37 9 131847523 131847523 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 198 66 88 0 ENST00000372546.4:c.300C>T p.Pro100= p.P100= ENST00000372546 NM_020438.4 100 ccC/ccT 0 -DPH5 UCSF GRCh37 1 101458296 101458296 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 34 65 0 ENST00000370109.3:c.531G>A p.Lys177= p.K177= ENST00000370109 NM_001077395.1 177 aaG/aaA 0 -DPP4 UCSF GRCh37 2 162929997 162929997 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 35 36 0 ENST00000360534.3:c.7-1G>A p.X3_splice ENST00000360534 NM_001935.3 0 -DPP6 UCSF GRCh37 7 154679444 154679444 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 224 88 198 0 ENST00000377770.3:c.2304G>A p.Glu768= p.E768= ENST00000377770 768 gaG/gaA 0 -DPYD UCSF GRCh37 1 97544641 97544641 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 116 67 135 0 ENST00000370192.3:c.2969C>T p.Thr990Ile p.T990I ENST00000370192 NM_000110.3 990 aCt/aTt 0 -DRAP1 UCSF GRCh37 11 65688075 65688075 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 43 25 0 ENST00000312515.2:c.365G>A p.Gly122Asp p.G122D ENST00000312515 NM_006442.3 122 gGt/gAt 0 -DRD5 UCSF GRCh37 4 9784541 9784541 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 147 80 62 0 ENST00000304374.2:c.888G>A p.Lys296= p.K296= ENST00000304374 NM_000798.4 296 aaG/aaA 0 -DRG2 UCSF GRCh37 17 18005276 18005276 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 18 11 14 0 ENST00000225729.3:c.771C>T p.Asp257= p.D257= ENST00000225729 NM_001388.4 257 gaC/gaT 0 -DSC2 UCSF GRCh37 18 28672242 28672242 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 30 70 0 ENST00000280904.6:c.176C>T p.Thr59Ile p.T59I ENST00000280904 NM_024422.3 59 aCa/aTa 0 -DSCR6 UCSF GRCh37 21 38390293 38390293 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 15 27 0 ENST00000329553.2:c.359C>T p.Ala120Val p.A120V ENST00000329553 NM_018962.2 120 gCt/gTt 0 -DSG2 UCSF GRCh37 18 29121213 29121213 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 24 24 47 0 ENST00000261590.8:c.1937C>T p.Pro646Leu p.P646L ENST00000261590 NM_001943.3 646 cCc/cTc 0 -DST UCSF GRCh37 6 56362671 56362671 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 131 62 141 0 ENST00000244364.6:c.12208G>A p.Asp4070Asn p.D4070N ENST00000244364 NM_015548.4 4070 Gat/Aat 0 -DST UCSF GRCh37 6 56365995 56365995 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 129 64 136 0 ENST00000244364.6:c.11910C>T p.Phe3970= p.F3970= ENST00000244364 NM_015548.4 3970 ttC/ttT 0 -DTNA UCSF GRCh37 18 32455243 32455243 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 24 47 0 ENST00000399113.3:c.1703C>T p.Thr568Ile p.T568I ENST00000399113 568 aCc/aTc 0 -DTX1 UCSF GRCh37 12 113496108 113496108 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 25 16 0 ENST00000257600.3:c.111G>A p.Trp37Ter p.W37* ENST00000257600 NM_004416.2 37 tgG/tgA 0 -DTX2 UCSF GRCh37 7 76132849 76132849 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 21 48 0 ENST00000324432.5:c.1496G>A p.Gly499Asp p.G499D ENST00000324432 NM_020892.2 499 gGc/gAc 0 -DUOX1 UCSF GRCh37 15 45434294 45434294 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 31 50 0 ENST00000321429.4:c.1806C>T p.Leu602= p.L602= ENST00000321429 NM_017434.3 602 ctC/ctT 0 -DUOXA2 UCSF GRCh37 15 45408829 45408829 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 86 59 24 0 ENST00000323030.5:c.456C>T p.Asp152= p.D152= ENST00000323030 NM_207581.3 152 gaC/gaT 0 -DUSP16 UCSF GRCh37 12 12633232 12633232 + 3_prime_UTR_variant 3'UTR SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 44 91 0 ENST00000298573.4:c.*144G>A *48* ENST00000298573 0 -DVL1 UCSF GRCh37 1 1273693 1273693 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 31 21 0 ENST00000378888.5:c.1463C>T p.Thr488Ile p.T488I ENST00000378888 488 aCc/aTc 0 -DVL3 UCSF GRCh37 3 183887949 183887949 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 26 24 0 ENST00000313143.3:c.1654G>A p.Gly552Ser p.G552S ENST00000313143 NM_004423.3 552 Ggc/Agc 0 -DYNC1H1 UCSF GRCh37 14 102515847 102515847 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 45 27 0 ENST00000360184.4:c.13443C>T p.Asp4481= p.D4481= ENST00000360184 NM_001376.4 4481 gaC/gaT 0 -DYRK4 UCSF GRCh37 12 4719397 4719397 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 26 61 0 ENST00000010132.5:c.1092G>A p.Met364Ile p.M364I ENST00000010132 364 atG/atA 0 -DZIP1 UCSF GRCh37 13 96239920 96239920 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 33 49 0 ENST00000347108.3:c.2091C>T p.Ser697= p.S697= ENST00000347108 697 tcC/tcT 0 -E2F7 UCSF GRCh37 12 77417858 77417858 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 29 67 0 ENST00000322886.7:c.2673C>T p.Asn891= p.N891= ENST00000322886 NM_203394.2 891 aaC/aaT 0 -ECM1 UCSF GRCh37 1 150483675 150483675 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 104 53 84 0 ENST00000369047.4:c.708+1G>A p.X236_splice ENST00000369047 NM_004425.3 0 -ECT2L UCSF GRCh37 6 139164281 139164281 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 36 85 0 ENST00000367682.2:c.508C>T p.Pro170Ser p.P170S ENST00000367682 NM_001077706.2 170 Ccc/Tcc 0 -EDEM1 UCSF GRCh37 3 5252860 5252860 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 195 70 126 0 ENST00000256497.4:c.1639G>A p.Glu547Lys p.E547K ENST00000256497 NM_014674.2 547 Gag/Aag 0 -EDEM3 UCSF GRCh37 1 184679682 184679682 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 40 82 0 ENST00000318130.8:c.1692-1G>A p.X564_splice ENST00000318130 NM_025191.3 0 -EDF1 UCSF GRCh37 9 139758304 139758304 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 27 63 0 ENST00000224073.1:c.98G>A p.Arg33Lys p.R33K ENST00000224073 NM_001281298.1 33 aGa/aAa 0 -EEA1 UCSF GRCh37 12 93196237 93196237 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 33 38 0 ENST00000322349.8:c.2613C>T p.Asn871= p.N871= ENST00000322349 NM_003566.3 871 aaC/aaT 0 -EFNA1 UCSF GRCh37 1 155106219 155106219 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 58 79 0 ENST00000368407.3:c.468G>A p.Gln156= p.Q156= ENST00000368407 NM_004428.2 156 caG/caA 0 -EFNB2 UCSF GRCh37 13 107145608 107145608 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 66 57 0 ENST00000245323.4:c.782C>T p.Pro261Leu p.P261L ENST00000245323 NM_004093.3 261 cCg/cTg 0 -EHMT1 UCSF GRCh37 9 140672342 140672342 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 254 89 112 0 ENST00000460843.1:c.2027G>A p.Gly676Glu p.G676E ENST00000460843 NM_024757.4 676 gGg/gAg 0 -EHMT1 UCSF GRCh37 9 140652417 140652417 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 130 57 74 0 ENST00000460843.1:c.1455C>T p.Asp485= p.D485= ENST00000460843 NM_024757.4 485 gaC/gaT 0 -EHMT2 UCSF GRCh37 6 31864759 31864759 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 148 18 47 0 ENST00000375537.4:c.50C>A p.Ala17Asp p.A17D ENST00000375537 NM_006709.3 17 gCc/gAc 0 -EI24 UCSF GRCh37 11 125445200 125445200 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 8 6 16 0 ENST00000278903.6:c.84G>A p.Lys28= p.K28= ENST00000278903 NM_004879.3 28 aaG/aaA 0 -EIF2AK1 UCSF GRCh37 7 6066478 6066478 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 46 98 0 ENST00000199389.6:c.1645C>T p.Leu549Phe p.L549F ENST00000199389 NM_001134335.1 549 Ctc/Ttc 0 -EIF2S2 UCSF GRCh37 20 32693260 32693260 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 44 94 0 ENST00000374980.2:c.107C>T p.Thr36Ile p.T36I ENST00000374980 NM_003908.3 36 aCc/aTc 0 -EIF3B UCSF GRCh37 7 2418387 2418387 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 27 6 30 0 ENST00000360876.4:c.2218T>C p.Ser740Pro p.S740P ENST00000360876 NM_001037283.1 740 Tcc/Ccc 0 -EIF3K UCSF GRCh37 19 39123092 39123092 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 147 64 153 0 ENST00000248342.4:c.377A>G p.Asp126Gly p.D126G ENST00000248342 NM_013234.2 126 gAc/gGc 0 -EIF6 UCSF GRCh37 20 33872225 33872225 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 201 101 39 0 ENST00000374436.3:c.66C>T p.Thr22= p.T22= ENST00000374436 NM_181468.2 22 acC/acT 0 -ELL UCSF GRCh37 19 18569095 18569095 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 23 36 0 ENST00000262809.4:c.789C>T p.Asp263= p.D263= ENST00000262809 NM_006532.3 263 gaC/gaT 0 -ELMO1 UCSF GRCh37 7 37251060 37251060 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 23 63 0 ENST00000310758.4:c.1017C>T p.Asn339= p.N339= ENST00000310758 NM_014800.10 339 aaC/aaT 0 -EMILIN2 UCSF GRCh37 18 2913251 2913251 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 48 31 39 0 ENST00000254528.3:c.3011G>A p.Gly1004Asp p.G1004D ENST00000254528 NM_032048.2 1004 gGc/gAc 0 -EML5 UCSF GRCh37 14 89160752 89160752 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 100 46 92 0 ENST00000380664.5:c.2439-1G>A p.X813_splice ENST00000380664 0 -ENAM UCSF GRCh37 4 71508053 71508053 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 41 90 0 ENST00000396073.3:c.910G>A p.Gly304Arg p.G304R ENST00000396073 NM_031889.2 304 Gga/Aga 0 -ENAM UCSF GRCh37 4 71508405 71508405 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 110 78 103 0 ENST00000396073.3:c.1262G>A p.Gly421Asp p.G421D ENST00000396073 NM_031889.2 421 gGt/gAt 0 -ENC1 UCSF GRCh37 5 73931072 73931072 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 28 39 0 ENST00000302351.4:c.1239G>A p.Gln413= p.Q413= ENST00000302351 NM_003633.3 413 caG/caA 0 -ENO2 UCSF GRCh37 12 7030820 7030820 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 43 72 0 ENST00000229277.1:c.942G>A p.Gln314= p.Q314= ENST00000229277 NM_001975.2 314 caG/caA 0 -ENPEP UCSF GRCh37 4 111452380 111452380 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 20 24 0 ENST00000265162.5:c.1754G>A p.Trp585Ter p.W585* ENST00000265162 NM_001977.3 585 tGg/tAg 0 -ENPP2 UCSF GRCh37 8 120569856 120569856 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 100 57 61 0 ENST00000075322.6:c.2497C>T p.Leu833Phe p.L833F ENST00000075322 NM_001040092.2 833 Ctc/Ttc 0 -ENPP7 UCSF GRCh37 17 77707389 77707389 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 61 28 27 0 ENST00000328313.5:c.337C>T p.Leu113= p.L113= ENST00000328313 NM_178543.3 113 Ctg/Ttg 0 -EP400 UCSF GRCh37 12 132466904 132466904 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 152 57 53 0 ENST00000389561.2:c.1810C>T p.Pro604Ser p.P604S ENST00000389561 NM_015409.4 604 Cct/Tct 0 -EPB41L1 UCSF GRCh37 20 34785820 34785820 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 27 32 0 ENST00000338074.2:c.1525G>A p.Ala509Thr p.A509T ENST00000338074 NM_012156.2 509 Gcc/Acc 0 -EPB41L4B UCSF GRCh37 9 111965992 111965992 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 67 40 89 0 ENST00000374566.3:c.1897C>T p.Pro633Ser p.P633S ENST00000374566 NM_019114.3 633 Ccg/Tcg 0 -EPB42 UCSF GRCh37 15 43495332 43495332 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 40 62 0 ENST00000441366.2:c.1760G>A p.Arg587Lys p.R587K ENST00000441366 NM_001114134.1 587 aGa/aAa 0 -EPHA10 UCSF GRCh37 1 38192817 38192817 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 24 15 0 ENST00000373048.4:c.1729C>T p.Leu577Phe p.L577F ENST00000373048 NM_001099439.1 577 Ctc/Ttc 0 -EPHA10 UCSF GRCh37 1 38186467 38186467 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 7 20 0 ENST00000373048.4:c.2196C>T p.Asp732= p.D732= ENST00000373048 NM_001099439.1 732 gaC/gaT 0 -EPHA6 UCSF GRCh37 3 96945231 96945231 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 130 68 123 0 ENST00000389672.5:c.1238C>T p.Ala413Val p.A413V ENST00000389672 NM_001080448.2 413 gCt/gTt 0 -EPM2AIP1 UCSF GRCh37 3 37033850 37033850 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 256 97 124 0 ENST00000322716.5:c.719G>A p.Arg240Lys p.R240K ENST00000322716 NM_014805.3 240 aGa/aAa 0 -EPN2 UCSF GRCh37 17 19232186 19232186 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 69 31 44 0 ENST00000314728.5:c.1310C>T p.Pro437Leu p.P437L ENST00000314728 NM_014964.4 437 cCc/cTc 0 -EPOR UCSF GRCh37 19 11493890 11493890 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 26 26 0 ENST00000222139.6:c.134G>A p.Arg45Gln p.R45Q ENST00000222139 NM_000121.3 45 cGg/cAg 0 -EPOR UCSF GRCh37 19 11492447 11492447 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 23 13 0 ENST00000222139.6:c.506C>T p.Pro169Leu p.P169L ENST00000222139 NM_000121.3 169 cCg/cTg 0 -EPS8L1 UCSF GRCh37 19 55597464 55597464 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 57 39 0 ENST00000201647.6:c.1554G>A p.Arg518= p.R518= ENST00000201647 NM_133180.2 518 cgG/cgA 0 -EPS8L3 UCSF GRCh37 1 110293937 110293937 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 10 29 0 ENST00000361965.4:c.1600G>A p.Val534Ile p.V534I ENST00000361965 534 Gtc/Atc 0 -ERBB2IP UCSF GRCh37 5 65350348 65350348 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 46 75 0 ENST00000284037.5:c.3202G>A p.Ala1068Thr p.A1068T ENST00000284037 NM_001253697.1 1068 Gca/Aca 0 -ERBB4 UCSF GRCh37 2 212426739 212426739 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 49 71 0 ENST00000342788.4:c.2376C>T p.Ile792= p.I792= ENST00000342788 NM_005235.2 792 atC/atT 0 -ERC2 UCSF GRCh37 3 56330151 56330151 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 207 133 160 0 ENST00000288221.6:c.970G>A p.Asp324Asn p.D324N ENST00000288221 NM_015576.1 324 Gat/Aat 0 -ERCC6 UCSF GRCh37 10 50732465 50732465 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 52 100 0 ENST00000355832.5:c.1011G>A p.Lys337= p.K337= ENST00000355832 NM_000124.3 337 aaG/aaA 0 -ERF UCSF GRCh37 19 42752920 42752920 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 155 107 82 0 ENST00000222329.4:c.1344G>A p.Glu448= p.E448= ENST00000222329 NM_006494.2 448 gaG/gaA 0 -ERG UCSF GRCh37 21 39817432 39817432 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 23 39 0 ENST00000398919.2:c.152C>T p.Thr51Ile p.T51I ENST00000398919 NM_001243428.1 51 aCt/aTt 0 -ERGIC3 UCSF GRCh37 20 34142816 34142816 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 49 62 0 ENST00000348547.2:c.687C>T p.Val229= p.V229= ENST00000348547 NM_015966.2 229 gtC/gtT 0 -ERN1 UCSF GRCh37 17 62130161 62130161 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 34 68 0 ENST00000433197.3:c.2232C>T p.Ser744= p.S744= ENST00000433197 NM_001433.3 744 agC/agT 0 -ESCO1 UCSF GRCh37 18 19147941 19147941 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 39 103 0 ENST00000269214.5:c.1645G>A p.Gly549Ser p.G549S ENST00000269214 NM_052911.2 549 Ggt/Agt 0 -ESF1 UCSF GRCh37 20 13753186 13753186 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 40 63 0 ENST00000202816.1:c.1225C>T p.Pro409Ser p.P409S ENST00000202816 NM_001276380.1 409 Cct/Tct 0 -ESPL1 UCSF GRCh37 12 53677943 53677943 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 70 47 83 0 ENST00000257934.4:c.3179C>T p.Ser1060Phe p.S1060F ENST00000257934 NM_012291.4 1060 tCt/tTt 0 -ESPL1 UCSF GRCh37 12 53687255 53687255 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 15 31 0 ENST00000257934.4:c.6360G>A p.Arg2120= p.R2120= ENST00000257934 NM_012291.4 2120 cgG/cgA 0 -ESPNL UCSF GRCh37 2 239025622 239025622 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 16 19 26 0 ENST00000343063.3:c.934G>A p.Glu312Lys p.E312K ENST00000343063 NM_194312.2 312 Gag/Aag 0 -ESR2 UCSF GRCh37 14 64701863 64701863 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 55 9 27 0 ENST00000341099.4:c.1231T>G p.Tyr411Asp p.Y411D ENST00000341099 NM_001437.2 411 Tac/Gac 0 -ESR2 UCSF GRCh37 14 64701834 64701834 + synonymous_variant Silent SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 59 15 36 0 ENST00000341099.4:c.1260T>G p.Ala420= p.A420= ENST00000341099 NM_001437.2 420 gcT/gcG 0 -ESYT3 UCSF GRCh37 3 138189831 138189831 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 21 51 0 ENST00000389567.4:c.1703G>A p.Gly568Asp p.G568D ENST00000389567 NM_031913.3 568 gGc/gAc 0 -EXT2 UCSF GRCh37 11 44193294 44193294 + splice_donor_variant Splice_Site SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 28 59 109 0 ENST00000343631.3:c.1305+2T>C p.X435_splice ENST00000343631 0 -EZH2 UCSF GRCh37 7 148544360 148544360 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 278 87 169 0 ENST00000460911.1:c.31G>A p.Gly11Arg p.G11R ENST00000460911 11 Gga/Aga 0 -F2 UCSF GRCh37 11 46750944 46750944 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 14 26 36 0 ENST00000311907.5:c.1487G>A p.Gly496Glu p.G496E ENST00000311907 NM_000506.3 496 gGa/gAa 0 -F9 UCSF GRCh37 X 138619538 138619538 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 29 29 0 ENST00000218099.2:c.270G>A p.Gln90= p.Q90= ENST00000218099 NM_000133.3 90 caG/caA 0 -FA2H UCSF GRCh37 16 74750431 74750431 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 38 9 11 0 ENST00000219368.3:c.853T>C p.Tyr285His p.Y285H ENST00000219368 NM_024306.4 285 Tac/Cac 0 -FABP7 UCSF GRCh37 6 123104903 123104903 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 44 54 0 ENST00000368444.3:c.390G>A p.Glu130= p.E130= ENST00000368444 NM_001446.3 130 gaG/gaA 0 -FAF2 UCSF GRCh37 5 175919294 175919294 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 21 34 48 0 ENST00000261942.6:c.444G>A p.Gly148= p.G148= ENST00000261942 NM_014613.2 148 ggG/ggA 0 -FAM109A UCSF GRCh37 12 111801103 111801103 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 12 13 0 ENST00000547838.2:c.129G>A p.Gly43= p.G43= ENST00000547838 43 ggG/ggA 0 -FAM109B UCSF GRCh37 22 42473561 42473561 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 76 45 0 ENST00000321753.3:c.264C>T p.Ala88= p.A88= ENST00000321753 NM_001002034.2 88 gcC/gcT 0 -FAM125A UCSF GRCh37 19 17534588 17534588 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 22 24 0 ENST00000317040.7:c.620C>T p.Ser207Phe p.S207F ENST00000317040 207 tCc/tTc 0 -FAM178A UCSF GRCh37 10 102676714 102676714 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 15 42 76 0 ENST00000238961.4:c.572G>A p.Gly191Asp p.G191D ENST00000238961 NM_018121.3 191 gGc/gAc 0 -FAM179B UCSF GRCh37 14 45432024 45432024 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 84 69 63 0 ENST00000361577.3:c.400G>A p.Glu134Lys p.E134K ENST00000361577 NM_015091.2 134 Gaa/Aaa 0 -FAM186B UCSF GRCh37 12 49993278 49993278 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 17 31 0 ENST00000257894.2:c.2145C>T p.Ile715= p.I715= ENST00000257894 NM_032130.2 715 atC/atT 0 -FAM190A UCSF GRCh37 4 91229440 91229440 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 25 50 0 ENST00000509176.1:c.5G>A p.Gly2Glu p.G2E ENST00000509176 NM_001145065.1 2 gGg/gAg 0 -FAM198A UCSF GRCh37 3 43073791 43073791 + synonymous_variant,NMD_transcript_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 101 28 23 0 ENST00000273146.2:c.36G>A p.Lys12= p.K12= ENST00000273146 12 aaG/aaA 0 -FAM19A3 UCSF GRCh37 1 113266678 113266678 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 39 20 24 0 ENST00000361886.3:c.309C>T p.Cys103= p.C103= ENST00000361886 NM_001004440.1 103 tgC/tgT 0 -FAM208A UCSF GRCh37 3 56675640 56675640 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 98 57 105 0 ENST00000493960.2:c.2356G>A p.Asp786Asn p.D786N ENST00000493960 NM_001112736.1 786 Gat/Aat 0 -FAM208B UCSF GRCh37 10 5772723 5772723 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 134 85 124 0 ENST00000328090.5:c.761C>T p.Ser254Leu p.S254L ENST00000328090 NM_017782.4 254 tCa/tTa 0 -FAM20B UCSF GRCh37 1 179013332 179013332 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 43 23 42 0 ENST00000263733.4:c.350G>A p.Gly117Asp p.G117D ENST00000263733 NM_014864.3 117 gGc/gAc 0 -FAM46D UCSF GRCh37 X 79698982 79698982 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 51 104 0 ENST00000308293.5:c.944G>A p.Ser315Asn p.S315N ENST00000308293 NM_152630.4 315 aGt/aAt 0 -FAM50B UCSF GRCh37 6 3850294 3850294 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 31 8 0 ENST00000380272.3:c.249G>A p.Glu83= p.E83= ENST00000380272 NM_012135.1 83 gaG/gaA 0 -FAM54B UCSF GRCh37 1 26156015 26156015 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 157 19 129 0 ENST00000374300.3:c.467C>T p.Thr156Met p.T156M ENST00000374300 NM_001099626.1 156 aCg/aTg 0 -FAM65A UCSF GRCh37 16 67573757 67573757 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 278 97 114 0 ENST00000379312.3:c.381G>A p.Lys127= p.K127= ENST00000379312 NM_001193522.1 127 aaG/aaA 0 -FAM78A UCSF GRCh37 9 134136293 134136293 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 116 57 44 0 ENST00000372271.3:c.768G>A p.Lys256= p.K256= ENST00000372271 NM_033387.3 256 aaG/aaA 0 -FAM90A1 UCSF GRCh37 12 8375120 8375120 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 225 93 102 0 ENST00000307435.6:c.693C>T p.Ser231= p.S231= ENST00000307435 231 agC/agT 0 -FANCD2 UCSF GRCh37 3 10091058 10091058 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 218 35 174 0 ENST00000383807.1:c.1414G>A p.Glu472Lys p.E472K ENST00000383807 NM_001018115.1 472 Gaa/Aaa 0 -FANCE UCSF GRCh37 6 35423814 35423814 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 24 26 0 ENST00000229769.2:c.539C>T p.Ser180Phe p.S180F ENST00000229769 NM_021922.2 180 tCc/tTc 0 -FAR2 UCSF GRCh37 12 29423433 29423433 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 13 48 0 ENST00000182377.4:c.51G>A p.Gly17= p.G17= ENST00000182377 NM_018099.4 17 ggG/ggA 0 -FASLG UCSF GRCh37 1 172634901 172634901 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 54 97 0 ENST00000367721.2:c.591C>T p.Phe197= p.F197= ENST00000367721 NM_000639.1 197 ttC/ttT 0 -FAT3 UCSF GRCh37 11 92531204 92531204 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 212 121 202 0 ENST00000298047.6:c.5025C>T p.Asp1675= p.D1675= ENST00000298047 1675 gaC/gaT 0 -FAT4 UCSF GRCh37 4 126371035 126371035 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 22 73 0 ENST00000394329.3:c.8864C>T p.Ser2955Phe p.S2955F ENST00000394329 NM_024582.4 2955 tCt/tTt 0 -FBN1 UCSF GRCh37 15 48786449 48786449 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 31 50 0 ENST00000316623.5:c.2680C>T p.Pro894Ser p.P894S ENST00000316623 NM_000138.4 894 Ccc/Tcc 0 -FBN2 UCSF GRCh37 5 127680179 127680179 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 24 25 87 0 ENST00000262464.4:c.3241C>T p.Pro1081Ser p.P1081S ENST00000262464 NM_001999.3 1081 Cct/Tct 0 -FBN3 UCSF GRCh37 19 8160848 8160848 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 27 28 0 ENST00000270509.2:c.5656G>A p.Asp1886Asn p.D1886N ENST00000270509 NM_032447.3 1886 Gat/Aat 0 -FBXL6 UCSF GRCh37 8 145580259 145580259 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 49 25 0 ENST00000331890.5:c.993+1G>A p.X331_splice ENST00000331890 NM_012162.3 0 -FBXO30 UCSF GRCh37 6 146121445 146121445 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 80 41 66 0 ENST00000237281.4:c.2035G>A p.Val679Ile p.V679I ENST00000237281 NM_032145.4 679 Gta/Ata 0 -FBXO39 UCSF GRCh37 17 6690152 6690152 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 27 68 0 ENST00000321535.4:c.1077C>T p.His359= p.H359= ENST00000321535 NM_153230.2 359 caC/caT 0 -FBXO41 UCSF GRCh37 2 73493648 73493648 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 12 11 0 ENST00000295133.5:c.1251C>T p.Ala417= p.A417= ENST00000295133 NM_001080410.2 417 gcC/gcT 0 -FBXO47 UCSF GRCh37 17 37099972 37099972 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 25 64 0 ENST00000378079.2:c.811G>A p.Glu271Lys p.E271K ENST00000378079 NM_001008777.2 271 Gaa/Aaa 0 -FBXO7 UCSF GRCh37 22 32891500 32891500 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 20 30 0 ENST00000266087.7:c.1165G>A p.Asp389Asn p.D389N ENST00000266087 NM_012179.3 389 Gac/Aac 0 -FCGBP UCSF GRCh37 19 40366336 40366336 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 35 24 0 ENST00000221347.6:c.13898G>A p.Gly4633Glu p.G4633E ENST00000221347 NM_003890.2 4633 gGa/gAa 0 -FCGBP UCSF GRCh37 19 40412068 40412068 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 19 18 0 ENST00000221347.6:c.3560C>T p.Ala1187Val p.A1187V ENST00000221347 NM_003890.2 1187 gCc/gTc 0 -FCGRT UCSF GRCh37 19 50017164 50017164 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 94 65 96 0 ENST00000221466.5:c.99C>T p.His33= p.H33= ENST00000221466 NM_001136019.2 33 caC/caT 0 -FCRL2 UCSF GRCh37 1 157740198 157740198 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 32 72 0 ENST00000361516.3:c.310+1G>A p.X104_splice ENST00000361516 NM_030764.3 0 -FDXACB1 UCSF GRCh37 11 111747557 111747557 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 75 106 0 ENST00000260257.4:c.508G>A p.Ala170Thr p.A170T ENST00000260257 NM_138378.2 170 Gca/Aca 0 -FERMT1 UCSF GRCh37 20 6078170 6078170 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 37 67 0 ENST00000217289.4:c.957+1G>A p.X319_splice ENST00000217289 NM_017671.4 0 -FEZF1 UCSF GRCh37 7 121942396 121942396 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 138 54 73 0 ENST00000442488.2:c.1083C>T p.Asn361= p.N361= ENST00000442488 NM_001160264.1 361 aaC/aaT 0 -FFAR2 UCSF GRCh37 19 35941013 35941013 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 107 49 61 0 ENST00000246549.2:c.397G>A p.Ala133Thr p.A133T ENST00000246549 NM_005306.2 133 Gcc/Acc 0 -FGD2 UCSF GRCh37 6 36995279 36995279 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 69 66 0 ENST00000274963.8:c.1680G>A p.Lys560= p.K560= ENST00000274963 NM_173558.3 560 aaG/aaA 0 -FGD4 UCSF GRCh37 12 32778605 32778605 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 45 21 64 0 ENST00000427716.2:c.1653A>G p.Lys551= p.K551= ENST00000427716 NM_139241.2 551 aaA/aaG 0 -FGFBP1 UCSF GRCh37 4 15937893 15937893 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 50 90 0 ENST00000382333.1:c.363C>T p.Arg121= p.R121= ENST00000382333 NM_005130.4 121 cgC/cgT 0 -FGFBP2 UCSF GRCh37 4 15964200 15964200 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 115 49 74 0 ENST00000259989.6:c.553C>T p.Pro185Ser p.P185S ENST00000259989 NM_031950.3 185 Cct/Tct 0 -FGFR2 UCSF GRCh37 10 123276956 123276956 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 21 36 58 0 ENST00000358487.5:c.961G>A p.Asp321Asn p.D321N ENST00000358487 NM_000141.4 321 Gac/Aac 0 -FHL3 UCSF GRCh37 1 38463171 38463171 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 35 39 0 ENST00000373016.3:c.749C>T p.Ser250Phe p.S250F ENST00000373016 NM_001243878.1 250 tCc/tTc 0 -FITM2 UCSF GRCh37 20 42935321 42935321 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 26 72 0 ENST00000396825.3:c.733G>A p.Gly245Arg p.G245R ENST00000396825 NM_001080472.1 245 Gga/Aga 0 -FLG2 UCSF GRCh37 1 152330054 152330054 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 23 39 0 ENST00000388718.5:c.208G>A p.Asp70Asn p.D70N ENST00000388718 NM_001014342.2 70 Gac/Aac 0 -FLNA UCSF GRCh37 X 153590825 153590825 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 75 41 0 ENST00000369850.3:c.2526G>A p.Gly842= p.G842= ENST00000369850 NM_001110556.1 842 ggG/ggA 0 -FLNC UCSF GRCh37 7 128487825 128487825 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 51 35 0 ENST00000325888.8:c.4363G>A p.Ala1455Thr p.A1455T ENST00000325888 NM_001458.4 1455 Gct/Act 0 -FLNC UCSF GRCh37 7 128494664 128494664 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 11 9 0 ENST00000325888.8:c.6925C>T p.Leu2309= p.L2309= ENST00000325888 NM_001458.4 2309 Ctg/Ttg 0 -FLNC UCSF GRCh37 7 128490857 128490857 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 35 50 0 ENST00000325888.8:c.5399G>A p.Gly1800Glu p.G1800E ENST00000325888 NM_001458.4 1800 gGa/gAa 0 -FLOT2 UCSF GRCh37 17 27208323 27208323 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 44 69 0 ENST00000394908.4:c.985G>A p.Val329Ile p.V329I ENST00000394908 NM_004475.2 329 Gtc/Atc 0 -FLRT2 UCSF GRCh37 14 86089009 86089009 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 39 81 0 ENST00000330753.4:c.1151C>T p.Pro384Leu p.P384L ENST00000330753 NM_013231.4 384 cCc/cTc 0 -FMN1 UCSF GRCh37 15 33358853 33358853 + intron_variant Intron SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 47 126 0 ENST00000559047.1:c.2044-1578G>A *682* ENST00000559047 NM_001277313.1 0 -FMNL2 UCSF GRCh37 2 153468012 153468012 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 106 69 98 0 ENST00000288670.9:c.955G>A p.Ala319Thr p.A319T ENST00000288670 NM_052905.3 319 Gct/Act 0 -FOLH1B UCSF GRCh37 11 89429802 89429802 + splice_region_variant,non_coding_transcript_exon_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 17 34 0 ENST00000525540.1:n.1574C>T p.X525_splice ENST00000525540 0 -FOXA3 UCSF GRCh37 19 46375379 46375379 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 31 57 0 ENST00000302177.2:c.116C>T p.Ser39Phe p.S39F ENST00000302177 NM_004497.2 39 tCc/tTc 0 -FOXD4 UCSF GRCh37 9 116871 116871 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 31 38 0 ENST00000382500.2:c.1249G>A p.Glu417Lys p.E417K ENST00000382500 NM_207305.4 417 Gag/Aag 0 -FOXF1 UCSF GRCh37 16 86544368 86544368 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 136 55 35 0 ENST00000262426.4:c.193C>T p.Pro65Ser p.P65S ENST00000262426 NM_001451.2 65 Ccc/Tcc 0 -FOXM1 UCSF GRCh37 12 2981341 2981341 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 120 85 140 0 ENST00000359843.3:c.575C>T p.Ser192Phe p.S192F ENST00000359843 NM_021953.3 192 tCt/tTt 0 -FOXR1 UCSF GRCh37 11 118851225 118851225 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 38 71 0 ENST00000317011.3:c.637G>A p.Ala213Thr p.A213T ENST00000317011 NM_181721.2 213 Gcc/Acc 0 -FOXRED2 UCSF GRCh37 22 36894137 36894137 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 30 25 0 ENST00000216187.6:c.1283C>T p.Pro428Leu p.P428L ENST00000216187 NM_024955.5 428 cCc/cTc 0 -FRAS1 UCSF GRCh37 4 79432566 79432566 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 84 138 0 ENST00000264895.6:c.9919C>T p.Pro3307Ser p.P3307S ENST00000264895 NM_025074.6 3307 Cca/Tca 0 -FRAS1 UCSF GRCh37 4 79229230 79229230 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 115 69 142 0 ENST00000264895.6:c.1545G>A p.Glu515= p.E515= ENST00000264895 NM_025074.6 515 gaG/gaA 0 -FREM1 UCSF GRCh37 9 14770618 14770618 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 68 52 74 0 ENST00000380880.3:c.5044G>A p.Glu1682Lys p.E1682K ENST00000380880 1682 Gag/Aag 0 -FREM2 UCSF GRCh37 13 39263675 39263675 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 39 68 0 ENST00000280481.7:c.2194G>A p.Asp732Asn p.D732N ENST00000280481 NM_207361.4 732 Gac/Aac 0 -FRMD3 UCSF GRCh37 9 85863162 85863162 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 58 112 0 ENST00000304195.3:c.1465G>A p.Asp489Asn p.D489N ENST00000304195 NM_001244960.1 489 Gat/Aat 0 -FRMD6 UCSF GRCh37 14 52194727 52194727 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 20 31 0 ENST00000344768.5:c.1849G>A p.Val617Ile p.V617I ENST00000344768 617 Gtt/Att 0 -FRMPD1 UCSF GRCh37 9 37746123 37746123 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 122 82 72 0 ENST00000377765.3:c.4094C>T p.Pro1365Leu p.P1365L ENST00000377765 NM_014907.2 1365 cCc/cTc 0 -FRMPD1 UCSF GRCh37 9 37735548 37735548 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 36 88 0 ENST00000377765.3:c.1219-1G>A p.X407_splice ENST00000377765 NM_014907.2 0 -FRY UCSF GRCh37 13 32653159 32653159 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 130 80 110 0 ENST00000380250.3:c.259G>A p.Ala87Thr p.A87T ENST00000380250 NM_023037.2 87 Gca/Aca 0 -FRY UCSF GRCh37 13 32805425 32805425 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 63 86 0 ENST00000380250.3:c.5515G>A p.Asp1839Asn p.D1839N ENST00000380250 NM_023037.2 1839 Gat/Aat 0 -FRY UCSF GRCh37 13 32868530 32868530 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 37 64 0 ENST00000542859.1:c.716G>A p.Ser239Asn p.S239N ENST00000542859 239 aGt/aAt 0 -FRY UCSF GRCh37 13 32776558 32776558 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 64 68 0 ENST00000380250.3:c.3912C>T p.Leu1304= p.L1304= ENST00000380250 NM_023037.2 1304 ctC/ctT 0 -FSCB UCSF GRCh37 14 44975886 44975886 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 126 87 201 0 ENST00000340446.4:c.305G>A p.Arg102Lys p.R102K ENST00000340446 NM_032135.3 102 aGa/aAa 0 -FSCB UCSF GRCh37 14 44974999 44974999 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 39 73 0 ENST00000340446.4:c.1192C>T p.Pro398Ser p.P398S ENST00000340446 NM_032135.3 398 Cct/Tct 0 -FSCN3 UCSF GRCh37 7 127240402 127240402 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 68 15 49 0 ENST00000265825.5:c.1446C>T p.Thr482= p.T482= ENST00000265825 NM_020369.2 482 acC/acT 0 -FSD1 UCSF GRCh37 19 4318408 4318408 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 22 24 0 ENST00000221856.6:c.865G>A p.Glu289Lys p.E289K ENST00000221856 NM_024333.2 289 Gag/Aag 0 -FSIP1 UCSF GRCh37 15 40005681 40005681 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 72 129 0 ENST00000350221.3:c.1152G>A p.Glu384= p.E384= ENST00000350221 NM_152597.4 384 gaG/gaA 0 -FSIP2 UCSF GRCh37 2 186656884 186656884 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 159 100 165 0 ENST00000424728.1:c.5021C>T p.Pro1674Leu p.P1674L ENST00000424728 1674 cCt/cTt 0 -FSIP2 UCSF GRCh37 2 186665992 186665992 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 89 54 85 0 ENST00000424728.1:c.11959C>T p.Leu3987Phe p.L3987F ENST00000424728 3987 Ctc/Ttc 0 -FSIP2 UCSF GRCh37 2 186657540 186657540 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 107 40 85 0 ENST00000424728.1:c.5677G>A p.Ala1893Thr p.A1893T ENST00000424728 1893 Gct/Act 0 -FSIP2 UCSF GRCh37 2 186667048 186667048 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 36 78 0 ENST00000424728.1:c.13015G>A p.Val4339Ile p.V4339I ENST00000424728 4339 Gta/Ata 0 -FSTL4 UCSF GRCh37 5 132560877 132560877 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 31 80 0 ENST00000265342.7:c.1277C>T p.Ser426Phe p.S426F ENST00000265342 NM_015082.1 426 tCc/tTc 0 -FUK UCSF GRCh37 16 70497664 70497664 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 10 15 0 ENST00000288078.6:c.221G>A p.Arg74Gln p.R74Q ENST00000288078 NM_145059.2 74 cGg/cAg 0 -FUT2 UCSF GRCh37 19 49206791 49206791 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 66 40 0 ENST00000391876.4:c.578G>A p.Gly193Asp p.G193D ENST00000391876 193 gGc/gAc 0 -FUT6 UCSF GRCh37 19 5832069 5832069 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 81 46 42 0 ENST00000286955.5:c.510G>A p.Trp170Ter p.W170* ENST00000286955 NM_001040701.1 170 tgG/tgA 0 -FYB UCSF GRCh37 5 39202562 39202562 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 155 81 171 1 ENST00000351578.6:c.501G>A p.Lys167= p.K167= ENST00000351578 NM_199335.3 167 aaG/aaA 0 -FYCO1 UCSF GRCh37 3 46009818 46009818 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 168 45 51 0 ENST00000296137.2:c.1008C>T p.Ala336= p.A336= ENST00000296137 NM_024513.3 336 gcC/gcT 0 -FYCO1 UCSF GRCh37 3 46009686 46009686 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 287 98 172 0 ENST00000296137.2:c.1140T>C p.Asp380= p.D380= ENST00000296137 NM_024513.3 380 gaT/gaC 0 -FZD10 UCSF GRCh37 12 130647932 130647932 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 208 49 50 0 ENST00000229030.4:c.445G>A p.Glu149Lys p.E149K ENST00000229030 149 Gag/Aag 0 -FZD10 UCSF GRCh37 12 130649027 130649027 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 30 46 0 ENST00000229030.4:c.1540G>A p.Val514Met p.V514M ENST00000229030 514 Gtg/Atg 0 -GABBR1 UCSF GRCh37 6 29574681 29574681 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 38 69 0 ENST00000377034.4:c.2210C>T p.Thr737Ile p.T737I ENST00000377034 NM_001470.2 737 aCc/aTc 0 -GABBR2 UCSF GRCh37 9 101235433 101235433 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 37 20 36 0 ENST00000259455.2:c.994G>A p.Gly332Arg p.G332R ENST00000259455 NM_005458.7 332 Gga/Aga 0 -GABRB1 UCSF GRCh37 4 47034018 47034018 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 139 79 93 0 ENST00000295454.3:c.168C>T p.Phe56= p.F56= ENST00000295454 NM_000812.3 56 ttC/ttT 0 -GAGE2D UCSF GRCh37 X 49208299 49208313 + protein_altering_variant In_Frame_Ins INS CGGCCTAGACCAAGA CGGCCTAGACCAAGA TATTGGCCTAGACCAAGG NOVEL P05_Rec Untested WXS Illumina HiSeq 9 0 ENST00000404720.2:c.28_42delinsTATTGGCCTAGACCAAGG p.Arg10delinsTyrTrp p.R10delinsYW ENST00000404720 NM_001098407.1 10 CGGCCTAGACCAAGA/TATTGGCCTAGACCAAGG 0 -GALNS UCSF GRCh37 16 88889032 88889032 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 16 18 0 ENST00000268695.5:c.1329C>T p.His443= p.H443= ENST00000268695 NM_000512.4 443 caC/caT 0 -GALNTL5 UCSF GRCh37 7 151705015 151705015 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 127 30 100 0 ENST00000392800.2:c.1012G>A p.Glu338Lys p.E338K ENST00000392800 NM_145292.3 338 Gaa/Aaa 0 -GAPVD1 UCSF GRCh37 9 128099780 128099780 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 59 22 50 0 ENST00000394104.2:c.2787C>T p.Leu929= p.L929= ENST00000394104 NM_001282679.1 929 ctC/ctT 0 -GARNL3 UCSF GRCh37 9 130127616 130127616 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 225 64 123 0 ENST00000373387.4:c.2132G>A p.Gly711Glu p.G711E ENST00000373387 NM_032293.4 711 gGa/gAa 0 -GAS2L2 UCSF GRCh37 17 34072427 34072427 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 71 72 0 ENST00000254466.6:c.2089G>A p.Gly697Arg p.G697R ENST00000254466 NM_139285.3 697 Gga/Aga 0 -GAS2L3 UCSF GRCh37 12 100994246 100994246 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 35 95 0 ENST00000266754.5:c.105C>T p.Tyr35= p.Y35= ENST00000266754 35 taC/taT 0 -GATAD1 UCSF GRCh37 7 92083940 92083940 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 149 49 72 0 ENST00000287957.3:c.560G>A p.Trp187Ter p.W187* ENST00000287957 NM_021167.4 187 tGg/tAg 0 -GCAT UCSF GRCh37 22 38205992 38205992 + intron_variant Intron SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 43 61 0 ENST00000248924.6:c.197-42C>T *66* ENST00000248924 NM_014291.3 0 -GCAT UCSF GRCh37 22 38205980 38205980 + intron_variant Intron SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 34 59 0 ENST00000248924.6:c.197-54G>A *66* ENST00000248924 NM_014291.3 0 -GCNT3 UCSF GRCh37 15 59911202 59911202 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.004,1000g2011may_all_0.01089,snp132_rs35655456 P05_Rec Untested WXS Illumina HiSeq 192 90 169 0 ENST00000396065.1:c.765G>A p.Glu255= p.E255= ENST00000396065 NM_004751.2 255 gaG/gaA 0 -GCNT7 UCSF GRCh37 20 55070281 55070281 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 13 40 0 ENST00000243913.4:c.677G>A p.Gly226Glu p.G226E ENST00000243913 NM_080615.1 226 gGa/gAa 0 -GFI1B UCSF GRCh37 9 135862166 135862166 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 8 10 0 ENST00000339463.3:c.100+1G>A p.X34_splice ENST00000339463 0 -GFRA1 UCSF GRCh37 10 117823939 117823939 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 15 31 52 0 ENST00000355422.6:c.1368C>T p.Ser456= p.S456= ENST00000355422 NM_005264.4 456 tcC/tcT 0 -GGT1 UCSF GRCh37 22 25007180 25007180 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 7 24 1 ENST00000248923.4:c.132C>T p.Ala44= p.A44= ENST00000248923 NM_013430.2 44 gcC/gcT 0 -GHRHR UCSF GRCh37 7 31008476 31008476 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 21 41 0 ENST00000326139.2:c.85G>T p.Asp29Tyr p.D29Y ENST00000326139 NM_000823.3 29 Gac/Tac 0 -GIMAP2 UCSF GRCh37 7 150389551 150389551 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 29 94 0 ENST00000223293.5:c.177G>A p.Lys59= p.K59= ENST00000223293 NM_015660.2 59 aaG/aaA 0 -GIMAP8 UCSF GRCh37 7 150163967 150163967 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 160 69 115 0 ENST00000307271.3:c.181G>A p.Val61Ile p.V61I ENST00000307271 NM_175571.2 61 Gtt/Att 0 -GIMAP8 UCSF GRCh37 7 150171237 150171237 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 119 27 59 0 ENST00000307271.3:c.820C>T p.Gln274Ter p.Q274* ENST00000307271 NM_175571.2 274 Cag/Tag 0 -GIT1 UCSF GRCh37 17 27904199 27904199 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 175 106 89 0 ENST00000225394.3:c.1048G>A p.Glu350Lys p.E350K ENST00000225394 NM_014030.3 350 Gag/Aag 0 -GJB6 UCSF GRCh37 13 20797371 20797371 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 28 35 0 ENST00000241124.6:c.249C>T p.Phe83= p.F83= ENST00000241124 NM_006783.4 83 ttC/ttT 0 -GJB7 UCSF GRCh37 6 87994398 87994398 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 92 46 90 0 ENST00000296882.3:c.233C>T p.Ala78Val p.A78V ENST00000296882 78 gCc/gTc 0 -GLDC UCSF GRCh37 9 6592855 6592855 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 32 73 0 ENST00000321612.6:c.1397G>A p.Gly466Asp p.G466D ENST00000321612 NM_000170.2 466 gGc/gAc 0 -GLDC UCSF GRCh37 9 6587248 6587248 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 29 68 0 ENST00000321612.6:c.1743C>T p.Pro581= p.P581= ENST00000321612 NM_000170.2 581 ccC/ccT 0 -GLI3 UCSF GRCh37 7 42187981 42187981 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 12 43 0 ENST00000395925.3:c.211G>A p.Val71Ile p.V71I ENST00000395925 NM_000168.5 71 Gtc/Atc 0 -GLI3 UCSF GRCh37 7 42079724 42079724 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 86 39 54 0 ENST00000395925.3:c.941C>T p.Pro314Leu p.P314L ENST00000395925 NM_000168.5 314 cCc/cTc 0 -GLIS3 UCSF GRCh37 9 3937133 3937133 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 101 59 72 0 ENST00000324333.10:c.1302G>A p.Arg434= p.R434= ENST00000324333 NM_152629.3 434 cgG/cgA 0 -GLRA4 UCSF GRCh37 X 102977152 102977152 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 122 131 0 ENST00000372617.4:c.646G>A p.Gly216Arg p.G216R ENST00000372617 NM_001024452.2 216 Ggg/Agg 0 -GLT8D2 UCSF GRCh37 12 104387238 104387238 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 9 19 0 ENST00000360814.4:c.812C>T p.Ser271Phe p.S271F ENST00000360814 NM_031302.3 271 tCc/tTc 0 -GLUD1 UCSF GRCh37 10 88818930 88818930 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 99 132 0 ENST00000277865.4:c.1379G>A p.Arg460Lys p.R460K ENST00000277865 NM_005271.3 460 aGg/aAg 0 -GLYAT UCSF GRCh37 11 58491934 58491934 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 50 80 0 ENST00000344743.3:c.36G>A p.Gln12= p.Q12= ENST00000344743 NM_201648.2 12 caG/caA 0 -GMEB1 UCSF GRCh37 1 29041273 29041273 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 35 64 0 ENST00000294409.2:c.1710C>T p.Val570= p.V570= ENST00000294409 NM_006582.3 570 gtC/gtT 0 -GMEB2 UCSF GRCh37 20 62221730 62221730 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 16 8 0 ENST00000266068.1:c.1305C>T p.Ala435= p.A435= ENST00000266068 435 gcC/gcT 0 -GMPR UCSF GRCh37 6 16254852 16254852 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 57 125 1 ENST00000259727.4:c.351G>A p.Leu117= p.L117= ENST00000259727 NM_006877.3 117 ctG/ctA 0 -GNAI1 UCSF GRCh37 7 79818509 79818509 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 19 51 0 ENST00000351004.3:c.265G>A p.Gly89Arg p.G89R ENST00000351004 NM_002069.5 89 Ggg/Agg 0 -GNAI2 UCSF GRCh37 3 50294993 50294993 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 14 46 0 ENST00000313601.6:c.939G>A p.Lys313= p.K313= ENST00000313601 NM_002070.2 313 aaG/aaA 0 -GNG4 UCSF GRCh37 1 235715517 235715517 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 97 49 88 0 ENST00000366597.1:c.120C>T p.Asp40= p.D40= ENST00000366597 40 gaC/gaT 0 -GNPAT UCSF GRCh37 1 231403448 231403448 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 57 101 0 ENST00000366647.4:c.1078G>A p.Glu360Lys p.E360K ENST00000366647 NM_014236.3 360 Gag/Aag 0 -GON4L UCSF GRCh37 1 155774791 155774791 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 51 118 0 ENST00000368331.1:c.1594G>A p.Asp532Asn p.D532N ENST00000368331 NM_001037533.1 532 Gac/Aac 0 -GORASP1 UCSF GRCh37 3 39141805 39141805 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 20 27 0 ENST00000319283.3:c.756C>T p.Asp252= p.D252= ENST00000319283 NM_031899.3 252 gaC/gaT 0 -GPC3 UCSF GRCh37 X 132888089 132888089 + missense_variant Missense_Mutation SNP T T A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 92 157 0 ENST00000370818.3:c.452A>T p.Asp151Val p.D151V ENST00000370818 NM_001164618.1 151 gAt/gTt 0 -GPHN UCSF GRCh37 14 67626206 67626206 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 86 51 60 0 ENST00000315266.5:c.1811+1G>A p.X604_splice ENST00000315266 NM_001024218.1 0 -GPM6B UCSF GRCh37 X 13825868 13825868 + intron_variant Intron SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 45 89 0 ENST00000356942.5:c.61+9095G>A *21* ENST00000356942 NM_005278.3 0 -GPR124 UCSF GRCh37 8 37690588 37690588 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 53 50 0 ENST00000412232.2:c.1158C>T p.Thr386= p.T386= ENST00000412232 NM_032777.9 386 acC/acT 0 -GPR146 UCSF GRCh37 7 1097986 1097986 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 35 55 0 ENST00000297468.3:c.835G>A p.Asp279Asn p.D279N ENST00000297468 NM_138445.2 279 Gat/Aat 0 -GPR155 UCSF GRCh37 2 175335147 175335147 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 17 50 0 ENST00000295500.4:c.997G>A p.Ala333Thr p.A333T ENST00000295500 NM_001033045.3 333 Gca/Aca 0 -GPR179 UCSF GRCh37 17 36483358 36483358 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 53 99 0 ENST00000342292.4:c.6094G>A p.Val2032Met p.V2032M ENST00000342292 NM_001004334.2 2032 Gtg/Atg 0 -GPR179 UCSF GRCh37 17 36499107 36499107 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 42 61 0 ENST00000342292.4:c.566C>T p.Pro189Leu p.P189L ENST00000342292 NM_001004334.2 189 cCt/cTt 0 -GPR20 UCSF GRCh37 8 142367957 142367957 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 21 12 0 ENST00000377741.3:c.67G>A p.Val23Met p.V23M ENST00000377741 NM_005293.2 23 Gtg/Atg 0 -GPR20 UCSF GRCh37 8 142367775 142367775 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 62 28 0 ENST00000377741.3:c.249G>A p.Arg83= p.R83= ENST00000377741 NM_005293.2 83 cgG/cgA 0 -GPR3 UCSF GRCh37 1 27720670 27720670 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 134 81 58 0 ENST00000374024.3:c.368G>A p.Ser123Asn p.S123N ENST00000374024 NM_005281.3 123 aGc/aAc 0 -GPR97 UCSF GRCh37 16 57712211 57712211 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 36 46 0 ENST00000333493.4:c.475C>T p.Pro159Ser p.P159S ENST00000333493 NM_170776.4 159 Cca/Tca 0 -GPR98 UCSF GRCh37 5 90368287 90368287 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 68 129 0 ENST00000405460.2:c.18176C>T p.Ala6059Val p.A6059V ENST00000405460 NM_032119.3 6059 gCt/gTt 0 -GPRC5B UCSF GRCh37 16 19883984 19883984 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 46 28 0 ENST00000300571.2:c.184G>A p.Val62Met p.V62M ENST00000300571 NM_016235.1 62 Gtg/Atg 0 -GRB7 UCSF GRCh37 17 37898594 37898594 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 116 77 102 0 ENST00000309156.4:c.40C>T p.Pro14Ser p.P14S ENST00000309156 NM_005310.3 14 Ccg/Tcg 0 -GRHL3 UCSF GRCh37 1 24658026 24658026 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 49 73 0 ENST00000350501.5:c.128C>T p.Ala43Val p.A43V ENST00000350501 NM_198174.2 43 gCc/gTc 0 -GRID2 UCSF GRCh37 4 94436455 94436455 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 53 72 0 ENST00000282020.4:c.2086C>T p.Leu696= p.L696= ENST00000282020 NM_001510.2 696 Ctg/Ttg 0 -GRIN2A UCSF GRCh37 16 9857804 9857804 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 161 79 146 0 ENST00000330684.3:c.3597G>A p.Pro1199= p.P1199= ENST00000330684 NM_001134407.1 1199 ccG/ccA 0 -GRIN2A UCSF GRCh37 16 10273879 10273879 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 45 27 0 ENST00000330684.3:c.390C>T p.Gly130= p.G130= ENST00000330684 NM_001134407.1 130 ggC/ggT 0 -GRIN3B UCSF GRCh37 19 1005407 1005407 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 66 35 0 ENST00000234389.3:c.1907C>T p.Thr636Met p.T636M ENST00000234389 NM_138690.1 636 aCg/aTg 0 -GRK1 UCSF GRCh37 13 114322040 114322040 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 64 67 0 ENST00000335678.6:c.339G>A p.Gln113= p.Q113= ENST00000335678 NM_002929.2 113 caG/caA 0 -GRM1 UCSF GRCh37 6 146351336 146351336 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 72 31 65 0 ENST00000282753.1:c.683C>T p.Ser228Phe p.S228F ENST00000282753 NM_001278067.1 228 tCt/tTt 0 -GRM1 UCSF GRCh37 6 146673547 146673547 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 52 105 0 ENST00000282753.1:c.1348C>T p.Leu450= p.L450= ENST00000282753 NM_001278067.1 450 Ctg/Ttg 0 -GRM2 UCSF GRCh37 3 51750123 51750123 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 59 15 31 0 ENST00000395052.3:c.2334C>T p.Pro778= p.P778= ENST00000395052 NM_000839.3 778 ccC/ccT 0 -GSTA3 UCSF GRCh37 6 52764848 52764848 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 124 61 149 0 ENST00000211122.3:c.298G>A p.Ala100Thr p.A100T ENST00000211122 NM_000847.4 100 Gca/Aca 0 -GTF2A1L UCSF GRCh37 2 48874040 48874040 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 20 37 64 0 ENST00000394754.1:c.2949C>T p.Leu983= p.L983= ENST00000394754 NM_172311.2 983 ctC/ctT 0 -GTF2H4 UCSF GRCh37 6 30880904 30880904 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 27 23 0 ENST00000259895.4:c.1107G>A p.Arg369= p.R369= ENST00000259895 NM_001517.4 369 agG/agA 0 -GTF2IRD1 UCSF GRCh37 7 73927195 73927195 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 29 30 0 ENST00000265755.3:c.159C>T p.Ala53= p.A53= ENST00000265755 NM_005685.3 53 gcC/gcT 0 -GTF3C1 UCSF GRCh37 16 27506726 27506726 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 15 19 0 ENST00000356183.4:c.2438G>A p.Gly813Glu p.G813E ENST00000356183 NM_001520.3 813 gGg/gAg 0 -GTSE1 UCSF GRCh37 22 46704798 46704798 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 46 46 0 ENST00000454366.1:c.720G>A p.Ala240= p.A240= ENST00000454366 NM_016426.6 240 gcG/gcA 0 -GUCY1A2 UCSF GRCh37 11 106558395 106558395 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 142 105 117 0 ENST00000526355.2:c.2079C>T p.Ile693= p.I693= ENST00000526355 NM_000855.2 693 atC/atT 0 -GUF1 UCSF GRCh37 4 44688578 44688578 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 87 56 90 0 ENST00000281543.5:c.786C>T p.Thr262= p.T262= ENST00000281543 NM_021927.2 262 acC/acT 0 -GZMH UCSF GRCh37 14 25077492 25077492 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 33 74 0 ENST00000216338.4:c.182C>T p.Thr61Ile p.T61I ENST00000216338 NM_033423.4 61 aCa/aTa 0 -H1FNT UCSF GRCh37 12 48723752 48723752 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 9 13 0 ENST00000335017.1:c.678G>A p.Thr226= p.T226= ENST00000335017 NM_181788.1 226 acG/acA 0 -H6PD UCSF GRCh37 1 9324739 9324739 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 49 17 0 ENST00000377403.2:c.2187G>A p.Met729Ile p.M729I ENST00000377403 NM_004285.3 729 atG/atA 0 -HACE1 UCSF GRCh37 6 105225138 105225138 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 48 73 0 ENST00000262903.4:c.1621G>A p.Asp541Asn p.D541N ENST00000262903 NM_020771.3 541 Gat/Aat 0 -HACE1 UCSF GRCh37 6 105232911 105232911 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 46 86 0 ENST00000262903.4:c.1358G>A p.Ser453Asn p.S453N ENST00000262903 NM_020771.3 453 aGt/aAt 0 -HADHA UCSF GRCh37 2 26415196 26415196 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 66 109 0 ENST00000380649.3:c.1983G>A p.Leu661= p.L661= ENST00000380649 NM_000182.4 661 ctG/ctA 0 -HAO2 UCSF GRCh37 1 119927582 119927582 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 39 90 0 ENST00000325945.3:c.467C>T p.Thr156Ile p.T156I ENST00000325945 NM_016527.2 156 aCt/aTt 0 -HCRTR1 UCSF GRCh37 1 32084911 32084911 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 165 78 70 0 ENST00000373706.5:c.118C>T p.Leu40= p.L40= ENST00000373706 40 Ctg/Ttg 0 -HDAC4 UCSF GRCh37 2 240029877 240029877 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 8 12 12 0 ENST00000345617.3:c.1966C>T p.Leu656Phe p.L656F ENST00000345617 NM_006037.3 656 Ctc/Ttc 0 -HDAC6 UCSF GRCh37 X 48666703 48666703 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 8 7 20 0 ENST00000334136.5:c.776G>A p.Gly259Glu p.G259E ENST00000334136 259 gGa/gAa 0 -HDC UCSF GRCh37 15 50535041 50535041 + missense_variant Missense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 39 46 43 0 ENST00000267845.3:c.1405G>C p.Asp469His p.D469H ENST00000267845 NM_002112.3 469 Gat/Cat 0 -HDC UCSF GRCh37 15 50546769 50546769 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 25 46 0 ENST00000267845.3:c.534G>A p.Glu178= p.E178= ENST00000267845 NM_002112.3 178 gaG/gaA 0 -HEATR1 UCSF GRCh37 1 236761195 236761195 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 37 80 0 ENST00000366582.3:c.586G>A p.Val196Met p.V196M ENST00000366582 NM_018072.5 196 Gtg/Atg 0 -HEATR3 UCSF GRCh37 16 50112689 50112689 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 26 51 0 ENST00000299192.7:c.801G>A p.Lys267= p.K267= ENST00000299192 NM_182922.2 267 aaG/aaA 0 -HEATR4 UCSF GRCh37 14 73987712 73987712 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 44 118 0 ENST00000334988.2:c.913G>A p.Val305Ile p.V305I ENST00000334988 NM_203309.2 305 Gtt/Att 0 -HECTD1 UCSF GRCh37 14 31575929 31575929 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 43 62 0 ENST00000399332.1:c.7149G>A p.Glu2383= p.E2383= ENST00000399332 NM_015382.2 2383 gaG/gaA 0 -HELQ UCSF GRCh37 4 84342833 84342833 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 30 43 0 ENST00000295488.3:c.2832G>A p.Leu944= p.L944= ENST00000295488 NM_133636.2 944 ttG/ttA 0 -HEPH UCSF GRCh37 X 65483531 65483531 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 32 85 0 ENST00000343002.2:c.3244+1G>A p.X1082_splice ENST00000343002 0 -HEPHL1 UCSF GRCh37 11 93806331 93806331 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 136 95 146 0 ENST00000315765.9:c.1372+1G>A p.X458_splice ENST00000315765 NM_001098672.1 0 -HERC2 UCSF GRCh37 15 28408403 28408403 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 48 57 0 ENST00000261609.7:c.10583G>A p.Gly3528Asp p.G3528D ENST00000261609 NM_004667.5 3528 gGt/gAt 0 -HERC2 UCSF GRCh37 15 28517390 28517390 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 15 48 0 ENST00000261609.7:c.1054G>A p.Asp352Asn p.D352N ENST00000261609 NM_004667.5 352 Gat/Aat 0 -HESX1 UCSF GRCh37 3 57232915 57232915 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 254 142 176 0 ENST00000295934.3:c.223G>A p.Val75Met p.V75M ENST00000295934 NM_003865.2 75 Gtg/Atg 0 -HEXDC UCSF GRCh37 17 80395092 80395092 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 141 79 40 0 ENST00000327949.9:c.752C>T p.Ala251Val p.A251V ENST00000327949 251 gCa/gTa 0 -HFM1 UCSF GRCh37 1 91844621 91844621 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 28 47 0 ENST00000370425.3:c.1157C>T p.Pro386Leu p.P386L ENST00000370425 NM_001017975.3 386 cCa/cTa 0 -HIAT1 UCSF GRCh37 1 100535242 100535242 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 36 72 0 ENST00000370152.3:c.891+1G>A p.X297_splice ENST00000370152 NM_033055.2 0 -HIF1A UCSF GRCh37 14 62204870 62204870 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 55 66 0 ENST00000337138.4:c.1315C>T p.Pro439Ser p.P439S ENST00000337138 NM_001530.3 439 Ccc/Tcc 0 -HIP1 UCSF GRCh37 7 75211432 75211432 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 5 13 0 ENST00000336926.6:c.501C>T p.Asp167= p.D167= ENST00000336926 NM_005338.6 167 gaC/gaT 0 -HIST1H2AE UCSF GRCh37 6 26217364 26217364 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 41 81 0 ENST00000303910.2:c.162G>A p.Ala54= p.A54= ENST00000303910 NM_021052.2 54 gcG/gcA 0 -HIST1H4L UCSF GRCh37 6 27841178 27841178 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 93 68 58 0 ENST00000355981.2:c.111C>T p.Arg37= p.R37= ENST00000355981 NM_003546.2 37 cgC/cgT 0 -HIST3H2BB UCSF GRCh37 1 228645954 228645954 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 203 113 88 0 ENST00000369160.2:c.124G>A p.Val42Met p.V42M ENST00000369160 NM_175055.2 42 Gtg/Atg 0 -HIVEP1 UCSF GRCh37 6 12164042 12164042 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 86 51 83 0 ENST00000379388.2:c.7505C>T p.Ala2502Val p.A2502V ENST00000379388 NM_002114.2 2502 gCc/gTc 0 -HK3 UCSF GRCh37 5 176315739 176315739 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 33 49 0 ENST00000292432.5:c.1041C>T p.Ile347= p.I347= ENST00000292432 NM_002115.2 347 atC/atT 0 -HKR1 UCSF GRCh37 19 37854105 37854105 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 97 41 92 0 ENST00000324411.4:c.1408G>A p.Val470Ile p.V470I ENST00000324411 NM_181786.2 470 Gtc/Atc 0 -HLA-DPB1 UCSF GRCh37 6 33053574 33053574 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 19 56 0 ENST00000418931.2:c.665C>T p.Ala222Val p.A222V ENST00000418931 NM_002121.5 222 gCc/gTc 0 -HLA-F UCSF GRCh37 6 29692880 29692880 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 61 34 62 0 ENST00000334668.4:c.683G>C p.Gly228Ala p.G228A ENST00000334668 NM_018950.2 228 gGc/gCc 0 -HMCN1 UCSF GRCh37 1 186039866 186039866 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 42 97 0 ENST00000271588.4:c.8116C>T p.Leu2706Phe p.L2706F ENST00000271588 NM_031935.2 2706 Ctc/Ttc 0 -HMCN1 UCSF GRCh37 1 186007969 186007969 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 68 47 83 0 ENST00000271588.4:c.5860T>C p.Trp1954Arg p.W1954R ENST00000271588 NM_031935.2 1954 Tgg/Cgg 0 -HMG20A UCSF GRCh37 15 77771634 77771634 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 29 86 0 ENST00000336216.4:c.1021G>A p.Val341Ile p.V341I ENST00000336216 341 Gtt/Att 0 -HMGXB4 UCSF GRCh37 22 35659100 35659100 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 26 54 0 ENST00000216106.5:c.61G>A p.Asp21Asn p.D21N ENST00000216106 NM_001003681.2 21 Gac/Aac 0 -HMGXB4 UCSF GRCh37 22 35659836 35659836 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 20 61 0 ENST00000216106.5:c.228G>A p.Arg76= p.R76= ENST00000216106 NM_001003681.2 76 agG/agA 0 -HNRNPH2 UCSF GRCh37 X 100668241 100668241 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 139 166 0 ENST00000316594.5:c.1265G>A p.Gly422Asp p.G422D ENST00000316594 NM_001199974.1 422 gGt/gAt 0 -HNRNPU UCSF GRCh37 1 245021367 245021367 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 49 73 0 ENST00000283179.9:c.1440C>T p.Pro480= p.P480= ENST00000283179 480 ccC/ccT 0 -HOOK3 UCSF GRCh37 8 42868530 42868530 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 48 51 0 ENST00000307602.4:c.2003C>T p.Ala668Val p.A668V ENST00000307602 NM_032410.3 668 gCc/gTc 0 -HOXB3 UCSF GRCh37 17 46628137 46628137 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 150 70 50 0 ENST00000311626.4:c.855C>T p.Ser285= p.S285= ENST00000311626 NM_002146.4 285 agC/agT 0 -HOXD4 UCSF GRCh37 2 177017514 177017514 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 178 83 84 0 ENST00000306324.3:c.612C>T p.Asn204= p.N204= ENST00000306324 NM_014621.2 204 aaC/aaT 0 -HPN UCSF GRCh37 19 35556929 35556929 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 119 51 63 0 ENST00000262626.2:c.1208C>T p.Ala403Val p.A403V ENST00000262626 NM_182983.2 403 gCc/gTc 0 -HPS1 UCSF GRCh37 10 100183425 100183425 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 85 82 0 ENST00000325103.6:c.1533G>A p.Arg511= p.R511= ENST00000325103 NM_000195.3 511 cgG/cgA 0 -HRC UCSF GRCh37 19 49657604 49657604 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 33 33 0 ENST00000252825.4:c.891C>T p.His297= p.H297= ENST00000252825 NM_002152.2 297 caC/caT 0 -HRH2 UCSF GRCh37 5 175110320 175110320 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 81 149 0 ENST00000231683.2:c.84C>T p.Leu28= p.L28= ENST00000231683 NM_022304.2 28 ctC/ctT 0 -HSD17B13 UCSF GRCh37 4 88231402 88231402 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 29 47 0 ENST00000328546.4:c.805C>T p.Leu269= p.L269= ENST00000328546 NM_178135.3 269 Cta/Tta 0 -HSF4 UCSF GRCh37 16 67199654 67199654 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 31 12 0 ENST00000264009.8:c.265G>A p.Gly89Ser p.G89S ENST00000264009 NM_001040667.2 89 Ggc/Agc 0 -HSPA5 UCSF GRCh37 9 127999235 127999235 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 130 63 154 0 ENST00000324460.6:c.1601C>T p.Thr534Ile p.T534I ENST00000324460 NM_005347.4 534 aCa/aTa 0 -HSPB1 UCSF GRCh37 7 75933374 75933374 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 11 13 0 ENST00000248553.6:c.502C>T p.Pro168Ser p.P168S ENST00000248553 NM_001540.3 168 Ccc/Tcc 0 -HSPBAP1 UCSF GRCh37 3 122459251 122459251 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 32 82 0 ENST00000306103.2:c.1408G>A p.Val470Met p.V470M ENST00000306103 NM_024610.5 470 Gtg/Atg 0 -HSPBP1 UCSF GRCh37 19 55790887 55790888 + inframe_insertion In_Frame_Ins INS - - GCCGCCGCC snp132_rs71743637 P05_Rec Untested WXS Illumina HiSeq 8 0 ENST00000255631.5:c.89_90insGGCGGCGGC p.Gly30_Ser31insAlaAlaAla p.G30_S31insAAA ENST00000255631 NM_012267.4 30 ggc/ggGGCGGCGGCc 0 -HSPG2 UCSF GRCh37 1 22150810 22150810 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 55 38 0 ENST00000374695.3:c.12804C>T p.His4268= p.H4268= ENST00000374695 NM_005529.5 4268 caC/caT 0 -HSPG2 UCSF GRCh37 1 22222744 22222744 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 135 74 114 0 ENST00000374695.3:c.123C>T p.Val41= p.V41= ENST00000374695 NM_005529.5 41 gtC/gtT 0 -HTR1B UCSF GRCh37 6 78172409 78172409 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 37 67 0 ENST00000369947.2:c.712C>T p.Arg238Trp p.R238W ENST00000369947 NM_000863.1 238 Cgg/Tgg 0 -HTR7 UCSF GRCh37 10 92503445 92503445 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 36 72 0 ENST00000336152.3:c.1298G>A p.Arg433Lys p.R433K ENST00000336152 NM_019859.3 433 aGg/aAg 0 -HTT UCSF GRCh37 4 3215750 3215750 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 27 29 0 ENST00000355072.5:c.6840C>T p.Asp2280= p.D2280= ENST00000355072 NM_002111.6 2280 gaC/gaT 0 -HVCN1 UCSF GRCh37 12 111099232 111099232 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 34 40 0 ENST00000242607.8:c.43G>A p.Val15Met p.V15M ENST00000242607 NM_032369.3 15 Gtg/Atg 0 -HVCN1 UCSF GRCh37 12 111099099 111099099 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 18 44 0 ENST00000242607.8:c.176C>T p.Pro59Leu p.P59L ENST00000242607 NM_032369.3 59 cCc/cTc 0 -HYDIN UCSF GRCh37 16 70867797 70867797 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 6 27 0 ENST00000393567.2:c.13672G>A p.Gly4558Ser p.G4558S ENST00000393567 NM_001270974.1 4558 Ggt/Agt 0 -HYDIN UCSF GRCh37 16 70871667 70871667 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 22 90 0 ENST00000393567.2:c.13168G>A p.Glu4390Lys p.E4390K ENST00000393567 NM_001270974.1 4390 Gaa/Aaa 0 -HYDIN UCSF GRCh37 16 70996005 70996005 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 141 24 122 0 ENST00000393567.2:c.5825C>T p.Ser1942Phe p.S1942F ENST00000393567 NM_001270974.1 1942 tCc/tTc 0 -HYDIN UCSF GRCh37 16 70972528 70972528 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 234 64 91 0 ENST00000393567.2:c.6984G>A p.Glu2328= p.E2328= ENST00000393567 NM_001270974.1 2328 gaG/gaA 0 -HYOU1 UCSF GRCh37 11 118922844 118922844 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 49 52 0 ENST00000404233.3:c.1163G>A p.Arg388Gln p.R388Q ENST00000404233 NM_001130991.1 388 cGg/cAg 0 -IBTK UCSF GRCh37 6 82912255 82912255 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 145 92 100 0 ENST00000306270.7:c.2719C>T p.Leu907Phe p.L907F ENST00000306270 NM_015525.2 907 Ctt/Ttt 0 -ICAM4 UCSF GRCh37 19 10398503 10398503 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 64 51 0 ENST00000380770.3:c.686C>T p.Thr229Ile p.T229I ENST00000380770 NM_001544.4 229 aCa/aTa 0 -ICAM5 UCSF GRCh37 19 10402332 10402332 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 110 61 41 0 ENST00000221980.4:c.520C>T p.Pro174Ser p.P174S ENST00000221980 NM_003259.3 174 Ccc/Tcc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 26 75 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IDH3A UCSF GRCh37 15 78452452 78452452 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 55 70 0 ENST00000299518.2:c.193G>A p.Glu65Lys p.E65K ENST00000299518 NM_005530.2 65 Gag/Aag 0 -IFI44L UCSF GRCh37 1 79107151 79107151 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 43 49 0 ENST00000370751.5:c.1181C>T p.Pro394Leu p.P394L ENST00000370751 NM_006820.2 394 cCt/cTt 0 -IFIT1 UCSF GRCh37 10 91163308 91163308 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 39 73 0 ENST00000371804.3:c.1276G>A p.Val426Ile p.V426I ENST00000371804 NM_001270927.1 426 Gtt/Att 0 -IFRD2 UCSF GRCh37 3 50327620 50327620 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 54 44 0 ENST00000417626.2:c.369G>A p.Leu123= p.L123= ENST00000417626 NM_006764.4 123 ctG/ctA 0 -IFT122 UCSF GRCh37 3 129234339 129234339 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 29 34 0 ENST00000348417.2:c.3162G>A p.Val1054= p.V1054= ENST00000348417 NM_052989.2 1054 gtG/gtA 0 -IFT81 UCSF GRCh37 12 110600794 110600794 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 33 81 0 ENST00000242591.5:c.1112G>A p.Ser371Asn p.S371N ENST00000242591 NM_014055.3 371 aGc/aAc 0 -IGFBPL1 UCSF GRCh37 9 38411424 38411424 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 32 59 0 ENST00000377694.1:c.810C>T p.His270= p.H270= ENST00000377694 NM_001007563.2 270 caC/caT 0 -IGFN1 UCSF GRCh37 1 201190766 201190766 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 17 20 0 ENST00000295591.8:c.1573G>A p.Gly525Arg p.G525R ENST00000295591 525 Ggg/Agg 0 -IGFN1 UCSF GRCh37 1 201183324 201183324 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 17 31 0 ENST00000295591.8:c.228C>T p.Ser76= p.S76= ENST00000295591 76 tcC/tcT 0 -IGSF3 UCSF GRCh37 1 117150657 117150657 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 124 48 159 0 ENST00000369486.3:c.1129C>T p.Arg377Trp p.R377W ENST00000369486 NM_001007237.2 377 Cgg/Tgg 0 -IGSF9 UCSF GRCh37 1 159898250 159898250 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 13 6 9 0 ENST00000368094.1:c.2928C>T p.Ser976= p.S976= ENST00000368094 NM_001135050.1 976 tcC/tcT 0 -IKBIP UCSF GRCh37 12 99007524 99007524 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 55 94 0 ENST00000342502.2:c.892G>A p.Val298Ile p.V298I ENST00000342502 NM_201612.2 298 Gta/Ata 0 -IL17RD UCSF GRCh37 3 57131798 57131798 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 143 39 36 0 ENST00000296318.7:c.1933C>T p.Pro645Ser p.P645S ENST00000296318 NM_017563.3 645 Ccc/Tcc 0 -IL17RD UCSF GRCh37 3 57140020 57140020 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 151 39 89 0 ENST00000296318.7:c.612C>T p.Asn204= p.N204= ENST00000296318 NM_017563.3 204 aaC/aaT 0 -IL1F10 UCSF GRCh37 2 113832830 113832830 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 97 50 58 0 ENST00000341010.2:c.348C>T p.Ala116= p.A116= ENST00000341010 NM_173161.2 116 gcC/gcT 0 -IL1R2 UCSF GRCh37 2 102642637 102642637 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 88 44 88 0 ENST00000332549.3:c.952G>A p.Glu318Lys p.E318K ENST00000332549 NM_004633.3 318 Gag/Aag 0 -IL1RL1 UCSF GRCh37 2 102968206 102968206 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 33 59 0 ENST00000233954.1:c.1496C>T p.Ser499Phe p.S499F ENST00000233954 NM_016232.4 499 tCc/tTc 0 -IL27RA UCSF GRCh37 19 14160068 14160068 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 22 43 0 ENST00000263379.2:c.1344C>T p.His448= p.H448= ENST00000263379 NM_004843.3 448 caC/caT 0 -IL27RA UCSF GRCh37 19 14162973 14162973 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 4 10 0 ENST00000263379.2:c.1782G>A p.Pro594= p.P594= ENST00000263379 NM_004843.3 594 ccG/ccA 0 -ILVBL UCSF GRCh37 19 15234266 15234266 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 68 55 31 0 ENST00000263383.3:c.257A>C p.Glu86Ala p.E86A ENST00000263383 NM_006844.4 86 gAg/gCg 0 -IMPA1 UCSF GRCh37 8 82583203 82583203 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 15 24 0 ENST00000256108.5:c.537G>A p.Met179Ile p.M179I ENST00000256108 NM_005536.3 179 atG/atA 0 -IMPDH1 UCSF GRCh37 7 128040521 128040521 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 14 12 0 ENST00000470772.1:c.394G>A p.Ala132Thr p.A132T ENST00000470772 NM_001142573.1 132 Gcc/Acc 0 -IMPDH2 UCSF GRCh37 3 49065942 49065942 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 18 37 0 ENST00000326739.4:c.171G>A p.Lys57= p.K57= ENST00000326739 NM_000884.2 57 aaG/aaA 0 -INO80 UCSF GRCh37 15 41313250 41313250 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 50 57 0 ENST00000361937.3:c.3122G>A p.Gly1041Glu p.G1041E ENST00000361937 1041 gGa/gAa 0 -INPP4B UCSF GRCh37 4 143033752 143033752 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 75 56 92 0 ENST00000262992.4:c.2219A>G p.His740Arg p.H740R ENST00000262992 NM_001101669.1 740 cAt/cGt 0 -INPP5F UCSF GRCh37 10 121582651 121582651 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 12 22 36 0 ENST00000361976.2:c.2101G>A p.Ala701Thr p.A701T ENST00000361976 NM_014937.3 701 Gcg/Acg 0 -INPPL1 UCSF GRCh37 11 71940181 71940181 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 37 26 0 ENST00000298229.2:c.566G>A p.Ser189Asn p.S189N ENST00000298229 NM_001567.3 189 aGc/aAc 0 -INSRR UCSF GRCh37 1 156823907 156823907 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 35 26 0 ENST00000368195.3:c.274G>A p.Glu92Lys p.E92K ENST00000368195 NM_014215.2 92 Gag/Aag 0 -INSRR UCSF GRCh37 1 156815549 156815549 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 25 11 0 ENST00000368195.3:c.2036C>T p.Pro679Leu p.P679L ENST00000368195 NM_014215.2 679 cCt/cTt 0 -INTS1 UCSF GRCh37 7 1511251 1511251 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 59 76 0 ENST00000404767.3:c.6211G>A p.Asp2071Asn p.D2071N ENST00000404767 NM_001080453.2 2071 Gac/Aac 0 -INTS1 UCSF GRCh37 7 1516226 1516226 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 17 30 0 ENST00000404767.3:c.5131C>T p.Arg1711Trp p.R1711W ENST00000404767 NM_001080453.2 1711 Cgg/Tgg 0 -INTS5 UCSF GRCh37 11 62415154 62415154 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 131 64 41 0 ENST00000330574.2:c.2398G>A p.Gly800Arg p.G800R ENST00000330574 NM_030628.1 800 Ggg/Agg 0 -IQCC UCSF GRCh37 1 32673044 32673044 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 61 27 43 0 ENST00000291358.6:c.762C>T p.Pro254= p.P254= ENST00000291358 NM_018134.2 254 ccC/ccT 0 -IQCH UCSF GRCh37 15 67692463 67692463 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 28 48 0 ENST00000335894.4:c.1917G>A p.Gln639= p.Q639= ENST00000335894 NM_001031715.2 639 caG/caA 0 -IRAK1BP1 UCSF GRCh37 6 79607818 79607818 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 39 83 0 ENST00000369940.2:c.550C>T p.Arg184Cys p.R184C ENST00000369940 NM_001010844.3 184 Cgc/Tgc 0 -IRF9 UCSF GRCh37 14 24632661 24632661 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 81 135 0 ENST00000396864.3:c.439G>A p.Asp147Asn p.D147N ENST00000396864 NM_006084.4 147 Gat/Aat 0 -IRGC UCSF GRCh37 19 44222793 44222793 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 109 48 37 0 ENST00000244314.5:c.83G>A p.Arg28His p.R28H ENST00000244314 NM_019612.3 28 cGc/cAc 0 -IRS1 UCSF GRCh37 2 227663066 227663066 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 59 28 0 ENST00000305123.5:c.389G>A p.Gly130Glu p.G130E ENST00000305123 NM_005544.2 130 gGa/gAa 0 -IRS4 UCSF GRCh37 X 107977851 107977851 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 59 93 92 0 ENST00000372129.2:c.1724G>A p.Gly575Glu p.G575E ENST00000372129 NM_003604.2 575 gGa/gAa 0 -IRX5 UCSF GRCh37 16 54965234 54965234 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 13 14 0 ENST00000394636.4:c.124G>A p.Gly42Ser p.G42S ENST00000394636 42 Ggc/Agc 0 -ISX UCSF GRCh37 22 35463225 35463225 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.031,1000g2011may_all_0.06778,snp132_rs61739193 P05_Rec Untested WXS Illumina HiSeq 14 6 11 0 ENST00000308700.6:c.145C>T p.Pro49Ser p.P49S ENST00000308700 NM_001008494.1 49 Cca/Tca 0 -ITGA11 UCSF GRCh37 15 68654023 68654023 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 29 68 0 ENST00000315757.7:c.377C>T p.Ser126Phe p.S126F ENST00000315757 NM_001004439.1 126 tCt/tTt 0 -ITGA2 UCSF GRCh37 5 52361693 52361693 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 69 32 73 0 ENST00000296585.5:c.1829C>T p.Ala610Val p.A610V ENST00000296585 NM_002203.3 610 gCc/gTc 0 -ITGA3 UCSF GRCh37 17 48156278 48156278 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 45 66 0 ENST00000320031.8:c.2388G>A p.Lys796= p.K796= ENST00000320031 NM_002204.2 796 aaG/aaA 0 -ITGA7 UCSF GRCh37 12 56086663 56086663 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 6 22 0 ENST00000555728.1:c.2941G>A p.Val981Met p.V981M ENST00000555728 981 Gtg/Atg 0 -ITGAE UCSF GRCh37 17 3662819 3662819 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 21 79 0 ENST00000263087.4:c.743G>A p.Gly248Glu p.G248E ENST00000263087 NM_002208.4 248 gGa/gAa 0 -ITGAM UCSF GRCh37 16 31341204 31341204 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 27 39 0 ENST00000287497.8:c.2954G>A p.Arg985His p.R985H ENST00000287497 985 cGc/cAc 0 -ITGAX UCSF GRCh37 16 31392317 31392317 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 24 26 0 ENST00000268296.4:c.3376G>A p.Val1126Ile p.V1126I ENST00000268296 NM_000887.3 1126 Gta/Ata 0 -ITPR2 UCSF GRCh37 12 26493114 26493114 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 28 59 0 ENST00000381340.3:c.8005G>A p.Glu2669Lys p.E2669K ENST00000381340 NM_002223.2 2669 Gag/Aag 0 -ITPR3 UCSF GRCh37 6 33661398 33661398 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 36 30 0 ENST00000374316.5:c.7701C>T p.Asn2567= p.N2567= ENST00000374316 2567 aaC/aaT 0 -ITSN1 UCSF GRCh37 21 35153812 35153812 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 28 43 0 ENST00000381318.3:c.1644C>T p.Leu548= p.L548= ENST00000381318 NM_003024.2 548 ctC/ctT 0 -JAG1 UCSF GRCh37 20 10622514 10622514 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 135 70 105 0 ENST00000254958.5:c.2599G>A p.Gly867Arg p.G867R ENST00000254958 NM_000214.2 867 Ggg/Agg 0 -JAG2 UCSF GRCh37 14 105609353 105609353 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 3 13 0 ENST00000331782.3:c.3396C>T p.Asn1132= p.N1132= ENST00000331782 NM_002226.4 1132 aaC/aaT 0 -JAZF1 UCSF GRCh37 7 27880336 27880336 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 273 67 102 0 ENST00000283928.5:c.536G>A p.Gly179Glu p.G179E ENST00000283928 NM_175061.3 179 gGa/gAa 0 -JHDM1D UCSF GRCh37 7 139798772 139798772 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 97 34 62 0 ENST00000397560.2:c.1825G>A p.Asp609Asn p.D609N ENST00000397560 NM_030647.1 609 Gat/Aat 0 -JUP UCSF GRCh37 17 39919560 39919560 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 30 19 0 ENST00000310706.5:c.1172G>A p.Ser391Asn p.S391N ENST00000310706 NM_021991.2 391 aGt/aAt 0 -KANK4 UCSF GRCh37 1 62740403 62740403 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 30 43 0 ENST00000371153.4:c.373G>A p.Val125Met p.V125M ENST00000371153 NM_181712.4 125 Gtg/Atg 0 -KBTBD8 UCSF GRCh37 3 67054544 67054544 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 80 56 147 0 ENST00000417314.2:c.1153C>T p.Leu385Phe p.L385F ENST00000417314 385 Ctt/Ttt 0 -KCMF1 UCSF GRCh37 2 85276656 85276656 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 135 92 104 0 ENST00000409785.4:c.769C>T p.Arg257Cys p.R257C ENST00000409785 NM_020122.4 257 Cgt/Tgt 0 -KCMF1 UCSF GRCh37 2 85270743 85270743 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 36 58 0 ENST00000409785.4:c.381C>T p.Asp127= p.D127= ENST00000409785 NM_020122.4 127 gaC/gaT 0 -KCMT-ND3 UCSF GRCh37 1 112525199 112525199 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 72 27 0 ENST00000315987.2:c.150G>A p.Arg50= p.R50= ENST00000315987 NM_004980.4 50 agG/agA 0 -KCNG4 UCSF GRCh37 16 84270739 84270739 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 140 49 30 0 ENST00000308251.4:c.353G>A p.Ser118Asn p.S118N ENST00000308251 NM_172347.2 118 aGc/aAc 0 -KCNH8 UCSF GRCh37 3 19492678 19492678 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 135 58 132 0 ENST00000328405.2:c.1607C>T p.Ser536Phe p.S536F ENST00000328405 NM_144633.2 536 tCt/tTt 0 -KCNK2 UCSF GRCh37 1 215298076 215298076 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 124 67 152 0 ENST00000444842.2:c.458C>T p.Thr153Ile p.T153I ENST00000444842 NM_014217.3 153 aCt/aTt 0 -KCNQ2 UCSF GRCh37 20 62073779 62073779 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 238 126 156 0 ENST00000359125.2:c.796G>A p.Asp266Asn p.D266N ENST00000359125 NM_172107.2 266 Gat/Aat 0 -KCNQ2 UCSF GRCh37 20 62046413 62046413 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 35 24 0 ENST00000359125.2:c.1368G>A p.Gly456= p.G456= ENST00000359125 NM_172107.2 456 ggG/ggA 0 -KCNT1 UCSF GRCh37 9 138656883 138656883 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 21 25 0 ENST00000488444.2:c.985G>A p.Glu329Lys p.E329K ENST00000488444 329 Gag/Aag 0 -KCTD19 UCSF GRCh37 16 67325605 67325605 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 23 33 0 ENST00000304372.5:c.2354C>T p.Thr785Ile p.T785I ENST00000304372 NM_001100915.1 785 aCc/aTc 0 -KCTD20 UCSF GRCh37 6 36454777 36454777 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 165 94 146 0 ENST00000373731.2:c.1085G>A p.Ser362Asn p.S362N ENST00000373731 NM_173562.3 362 aGt/aAt 0 -KCTD6 UCSF GRCh37 3 58487273 58487273 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 19 46 0 ENST00000355076.6:c.628G>A p.Val210Met p.V210M ENST00000355076 NM_153331.3 210 Gtg/Atg 0 -KDR UCSF GRCh37 4 55955592 55955592 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 18 26 0 ENST00000263923.4:c.3353G>A p.Arg1118Gln p.R1118Q ENST00000263923 NM_002253.2 1118 cGa/cAa 0 -KEL UCSF GRCh37 7 142641460 142641460 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 32 55 0 ENST00000355265.2:c.1441G>A p.Ala481Thr p.A481T ENST00000355265 NM_000420.2 481 Gct/Act 0 -KIAA0020 UCSF GRCh37 9 2804383 2804383 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 33 69 0 ENST00000397885.2:c.1895C>A p.Thr632Asn p.T632N ENST00000397885 NM_014878.4 632 aCc/aAc 0 -KIAA0182 UCSF GRCh37 16 85699735 85699735 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 99 38 52 0 ENST00000253458.7:c.2912G>A p.Gly971Glu p.G971E ENST00000253458 NM_014615.3 971 gGg/gAg 0 -KIAA0319L UCSF GRCh37 1 35972342 35972342 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 55 108 0 ENST00000325722.3:c.537G>A p.Gln179= p.Q179= ENST00000325722 NM_024874.4 179 caG/caA 0 -KIAA0430 UCSF GRCh37 16 15709764 15709764 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 45 78 0 ENST00000396368.3:c.3176G>A p.Gly1059Asp p.G1059D ENST00000396368 NM_001184998.1 1059 gGt/gAt 0 -KIAA0430 UCSF GRCh37 16 15715650 15715650 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 59 30 37 0 ENST00000396368.3:c.2579G>A p.Ser860Asn p.S860N ENST00000396368 NM_001184998.1 860 aGc/aAc 0 -KIAA0494 UCSF GRCh37 1 47173724 47173724 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 35 43 0 ENST00000371933.3:c.335-1G>A p.X112_splice ENST00000371933 NM_014774.2 0 -MACF1 UCSF GRCh37 1 39878149 39878149 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 55 90 0 ENST00000530275.1:c.1804C>T p.His602Tyr p.H602Y ENST00000530275 NM_015038.1 602 Cat/Tat 0 -MACF1 UCSF GRCh37 1 39879913 39879913 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 27 21 0 ENST00000530275.1:c.3568G>A p.Val1190Met p.V1190M ENST00000530275 NM_015038.1 1190 Gtg/Atg 0 -KIAA1009 UCSF GRCh37 6 84862522 84862522 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 220 141 232 0 ENST00000403245.3:c.3371C>T p.Ser1124Leu p.S1124L ENST00000403245 NM_014895.2 1124 tCa/tTa 0 -KIAA1024 UCSF GRCh37 15 79749460 79749460 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 142 90 157 0 ENST00000305428.3:c.971G>A p.Arg324Lys p.R324K ENST00000305428 NM_015206.2 324 aGg/aAg 0 -KIAA1024 UCSF GRCh37 15 79760642 79760642 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 17 34 0 ENST00000305428.3:c.2667C>T p.Val889= p.V889= ENST00000305428 NM_015206.2 889 gtC/gtT 0 -KIAA1033 UCSF GRCh37 12 105534999 105534999 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 56 91 0 ENST00000332180.5:c.1762G>A p.Asp588Asn p.D588N ENST00000332180 NM_015275.1 588 Gat/Aat 0 -BLTP1 UCSF GRCh37 4 123268748 123268748 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 47 57 0 ENST00000264501.4:c.12943G>A p.Ala4315Thr p.A4315T ENST00000264501 4315 Gct/Act 0 -KIAA1147 UCSF GRCh37 7 141386458 141386458 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 34 68 0 ENST00000536163.1:c.269G>A p.Gly90Glu p.G90E ENST00000536163 NM_001080392.1 90 gGa/gAa 0 -KIAA1239 UCSF GRCh37 4 37440874 37440874 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 146 72 162 0 ENST00000309447.5:c.1158C>T p.Phe386= p.F386= ENST00000309447 NM_001144990.1 386 ttC/ttT 0 -KIAA1267 UCSF GRCh37 17 44249494 44249494 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 36 26 0 ENST00000574590.1:c.16C>T p.Pro6Ser p.P6S ENST00000574590 NM_001193465.1 6 Ccc/Tcc 0 -KIAA1279 UCSF GRCh37 10 70748592 70748592 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 62 37 0 ENST00000361983.4:c.4G>A p.Ala2Thr p.A2T ENST00000361983 NM_015634.3 2 Gcg/Acg 0 -KIAA1407 UCSF GRCh37 3 113729717 113729717 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 94 74 105 0 ENST00000295878.3:c.1315G>A p.Ala439Thr p.A439T ENST00000295878 NM_020817.1 439 Gca/Aca 0 -KIAA1462 UCSF GRCh37 10 30316188 30316188 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 148 58 77 0 ENST00000375377.1:c.2889C>T p.Asn963= p.N963= ENST00000375377 NM_020848.2 963 aaC/aaT 0 -KIAA1530 UCSF GRCh37 4 1348558 1348558 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 24 19 23 0 ENST00000389851.4:c.970G>A p.Ala324Thr p.A324T ENST00000389851 NM_020894.2 324 Gct/Act 0 -KIAA1549 UCSF GRCh37 7 138595914 138595914 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 133 27 106 0 ENST00000422774.1:c.3123G>A p.Glu1041= p.E1041= ENST00000422774 1041 gaG/gaA 0 -KIAA1671 UCSF GRCh37 22 25577768 25577768 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 26 19 0 ENST00000358431.3:c.5177G>A p.Gly1726Asp p.G1726D ENST00000358431 NM_001145206.1 1726 gGc/gAc 0 -KIAA1683 UCSF GRCh37 19 18377383 18377383 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 56 76 0 ENST00000600328.3:c.967C>T p.Pro323Ser p.P323S ENST00000600328 323 Ccc/Tcc 0 -KIAA1751 UCSF GRCh37 1 1905497 1905497 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 17 11 0 ENST00000270720.7:n.797G>A *266* ENST00000270720 0 -KIAA1751 UCSF GRCh37 1 1900103 1900104 + non_coding_transcript_exon_variant RNA INS - - TCT NOVEL P05_Rec Untested WXS Illumina HiSeq 6 0 ENST00000270720.7:n.1372_1373insGAA *458* ENST00000270720 0 -KIAA1804 UCSF GRCh37 1 233511670 233511670 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 40 21 46 0 ENST00000366624.3:c.1684G>A p.Asp562Asn p.D562N ENST00000366624 NM_032435.2 562 Gat/Aat 0 -KIAA2018 UCSF GRCh37 3 113377353 113377353 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 143 48 161 0 ENST00000316407.4:c.3176G>A p.Arg1059Lys p.R1059K ENST00000316407 NM_001009899.2 1059 aGa/aAa 0 -KIAA2018 UCSF GRCh37 3 113377515 113377515 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 60 137 0 ENST00000316407.4:c.3014C>T p.Thr1005Ile p.T1005I ENST00000316407 NM_001009899.2 1005 aCt/aTt 0 -KIAA2022 UCSF GRCh37 X 73962030 73962030 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 123 70 140 0 ENST00000055682.6:c.2362C>T p.Leu788= p.L788= ENST00000055682 NM_001008537.2 788 Cta/Tta 0 -KIF18B UCSF GRCh37 17 43009482 43009482 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 20 48 0 ENST00000593135.1:c.1331G>A p.Gly444Glu p.G444E ENST00000593135 NM_001265577.1 444 gGg/gAg 0 -KIF1B UCSF GRCh37 1 10386370 10386370 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 92 54 59 0 ENST00000377086.1:c.2877G>A p.Gly959= p.G959= ENST00000377086 959 ggG/ggA 0 -KIF21B UCSF GRCh37 1 200945916 200945916 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 23 18 16 0 ENST00000422435.2:c.4431C>T p.Asp1477= p.D1477= ENST00000422435 NM_001252100.1 1477 gaC/gaT 0 -KIF23 UCSF GRCh37 15 69728990 69728990 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 40 41 0 ENST00000260363.4:c.1484C>T p.Pro495Leu p.P495L ENST00000260363 NM_138555.3 495 cCa/cTa 0 -KIF24 UCSF GRCh37 9 34256456 34256456 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 121 73 87 0 ENST00000379166.2:c.3149C>T p.Ser1050Phe p.S1050F ENST00000379166 NM_194313.2 1050 tCt/tTt 0 -KIF26A UCSF GRCh37 14 104641411 104641411 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 13 9 0 ENST00000423312.2:c.2286G>A p.Val762= p.V762= ENST00000423312 NM_015656.1 762 gtG/gtA 0 -KIF26B UCSF GRCh37 1 245849530 245849530 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 133 72 63 0 ENST00000407071.2:c.3245C>T p.Pro1082Leu p.P1082L ENST00000407071 NM_018012.3 1082 cCc/cTc 0 -KIF2C UCSF GRCh37 1 45232509 45232509 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 39 22 46 0 ENST00000372224.4:c.1983C>T p.Asp661= p.D661= ENST00000372224 NM_006845.3 661 gaC/gaT 0 -KIF6 UCSF GRCh37 6 39398905 39398905 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 11 32 0 ENST00000287152.7:c.1678G>A p.Glu560Lys p.E560K ENST00000287152 NM_145027.4 560 Gag/Aag 0 -KIFC3 UCSF GRCh37 16 57805320 57805320 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 332 121 87 0 ENST00000379655.4:c.555C>T p.Ser185= p.S185= ENST00000379655 NM_005550.3 185 tcC/tcT 0 -KIT UCSF GRCh37 4 55573358 55573358 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 23 55 0 ENST00000288135.5:c.1020C>T p.Phe340= p.F340= ENST00000288135 NM_000222.2 340 ttC/ttT 0 -KLF11 UCSF GRCh37 2 10188080 10188080 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 52 99 0 ENST00000305883.1:c.616C>T p.Gln206Ter p.Q206* ENST00000305883 NM_003597.4 206 Cag/Tag 0 -KLHDC7A UCSF GRCh37 1 18808738 18808738 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 46 22 0 ENST00000400664.1:c.1263C>T p.Thr421= p.T421= ENST00000400664 NM_152375.2 421 acC/acT 0 -KLHDC7A UCSF GRCh37 1 18808561 18808561 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 28 28 19 0 ENST00000400664.1:c.1086G>A p.Arg362= p.R362= ENST00000400664 NM_152375.2 362 cgG/cgA 0 -KLHDC8A UCSF GRCh37 1 205306545 205306545 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 34 61 0 ENST00000367155.3:c.1035G>A p.Leu345= p.L345= ENST00000367155 NM_018203.2 345 ctG/ctA 0 -KLHL18 UCSF GRCh37 3 47361194 47361194 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 46 89 0 ENST00000232766.5:c.181C>T p.Pro61Ser p.P61S ENST00000232766 NM_025010.4 61 Ccg/Tcg 0 -KLHL8 UCSF GRCh37 4 88116599 88116599 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 54 98 0 ENST00000273963.5:c.93C>T p.Ser31= p.S31= ENST00000273963 NM_020803.3 31 tcC/tcT 0 -KLHL9 UCSF GRCh37 9 21333274 21333274 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 137 109 201 0 ENST00000359039.4:c.1585G>A p.Ala529Thr p.A529T ENST00000359039 529 Gcc/Acc 0 -KLHL9 UCSF GRCh37 9 21334451 21334451 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 130 15 76 0 ENST00000359039.4:c.408C>T p.Pro136= p.P136= ENST00000359039 136 ccC/ccT 0 -KLK1 UCSF GRCh37 19 51325008 51325008 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 11 20 0 ENST00000301420.2:c.166C>T p.His56Tyr p.H56Y ENST00000301420 NM_002257.3 56 Cac/Tac 0 -KLRAQ1 UCSF GRCh37 2 48688356 48688356 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 27 43 0 ENST00000294952.8:c.679C>T p.Pro227Ser p.P227S ENST00000294952 NM_001135629.2 227 Cct/Tct 0 -KPNA1 UCSF GRCh37 3 122172726 122172726 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 11 39 0 ENST00000344337.6:c.555C>T p.Val185= p.V185= ENST00000344337 NM_002264.3 185 gtC/gtT 0 -KPTN UCSF GRCh37 19 47978723 47978723 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 14 8 0 ENST00000338134.3:c.1261G>A p.Gly421Arg p.G421R ENST00000338134 NM_007059.2 421 Ggg/Agg 0 -KPTN UCSF GRCh37 19 47987232 47987232 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 45 21 0 ENST00000338134.3:c.186C>T p.Ile62= p.I62= ENST00000338134 NM_007059.2 62 atC/atT 0 -KRT10 UCSF GRCh37 17 38978210 38978210 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 54 130 0 ENST00000269576.5:c.627+1G>A p.X209_splice ENST00000269576 NM_000421.3 0 -KRT12 UCSF GRCh37 17 39019780 39019780 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 48 45 0 ENST00000251643.4:c.1052C>T p.Ala351Val p.A351V ENST00000251643 NM_000223.3 351 gCc/gTc 0 -KRT24 UCSF GRCh37 17 38859558 38859558 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 166 99 115 0 ENST00000264651.2:c.388G>A p.Val130Ile p.V130I ENST00000264651 NM_019016.2 130 Gtt/Att 0 -KRT33A UCSF GRCh37 17 39506671 39506671 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 48 67 0 ENST00000007735.3:c.348+1G>A p.X116_splice ENST00000007735 NM_004138.3 0 -KRT33A UCSF GRCh37 17 39503373 39503373 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 57 34 49 0 ENST00000007735.3:c.690T>C p.Ser230= p.S230= ENST00000007735 NM_004138.3 230 agT/agC 0 -KRT85 UCSF GRCh37 12 52756135 52756135 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 89 50 61 0 ENST00000257901.3:c.1198G>A p.Ala400Thr p.A400T ENST00000257901 NM_002283.3 400 Gcc/Acc 0 -KRTAP4-8 UCSF GRCh37 17 39254082 39254082 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 130 45 47 0 ENST00000333822.4:c.255C>T p.Cys85= p.C85= ENST00000333822 NM_031960.2 85 tgC/tgT 0 -KRTAP9-1 UCSF GRCh37 17 39346626 39346627 + protein_altering_variant In_Frame_Ins INS - - GTGGGTCCAGCTGCTGCCAGCCTTGCT NOVEL P05_Rec Untested WXS Illumina HiSeq 8 0 ENST00000398470.1:c.488_489insGTGGGTCCAGCTGCTGCCAGCCTTGCT p.Cys163delinsTrpTrpValGlnLeuLeuProAlaLeuLeu p.C163delinsWWVQLLPALL ENST00000398470 NM_001190460.1 163 tgc/tgGTGGGTCCAGCTGCTGCCAGCCTTGCTc 0 -KRTDAP UCSF GRCh37 19 35981326 35981326 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 21 31 0 ENST00000338897.3:c.19C>T p.Pro7Ser p.P7S ENST00000338897 NM_207392.2 7 Cct/Tct 0 -KTI12 UCSF GRCh37 1 52498894 52498894 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 126 65 53 0 ENST00000371614.1:c.540G>A p.Gly180= p.G180= ENST00000371614 NM_138417.2 180 ggG/ggA 0 -L3MBTL2 UCSF GRCh37 22 41621036 41621036 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 19 40 34 0 ENST00000216237.5:c.1317C>T p.Pro439= p.P439= ENST00000216237 NM_031488.4 439 ccC/ccT 0 -LAMA1 UCSF GRCh37 18 7043231 7043231 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 72 139 0 ENST00000389658.3:c.1150C>T p.His384Tyr p.H384Y ENST00000389658 NM_005559.3 384 Cac/Tac 0 -LAMB1 UCSF GRCh37 7 107601033 107601033 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 30 55 0 ENST00000222399.6:c.2171G>A p.Gly724Glu p.G724E ENST00000222399 NM_002291.2 724 gGg/gAg 0 -LAMB2 UCSF GRCh37 3 49168206 49168206 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 126 43 84 0 ENST00000305544.4:c.1003C>T p.Pro335Ser p.P335S ENST00000305544 335 Ccg/Tcg 0 -LAMB2 UCSF GRCh37 3 49160387 49160387 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 38 38 0 ENST00000305544.4:c.4323C>T p.Ser1441= p.S1441= ENST00000305544 1441 agC/agT 0 -LAMC3 UCSF GRCh37 9 133961052 133961052 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 24 31 0 ENST00000361069.4:c.4172C>T p.Ser1391Phe p.S1391F ENST00000361069 NM_006059.3 1391 tCc/tTc 0 -LAMC3 UCSF GRCh37 9 133944397 133944397 + stop_gained Nonsense_Mutation SNP C C A NOVEL P05_Rec Untested WXS Illumina HiSeq 144 50 37 0 ENST00000361069.4:c.2850C>A p.Cys950Ter p.C950* ENST00000361069 NM_006059.3 950 tgC/tgA 0 -LARP1 UCSF GRCh37 5 154181876 154181876 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 21 28 54 0 ENST00000336314.4:c.1795G>A p.Ala599Thr p.A599T ENST00000336314 NM_015315.4 599 Gcc/Acc 0 -LARP1B UCSF GRCh37 4 129012618 129012618 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 24 65 0 ENST00000326639.6:c.619G>A p.Val207Met p.V207M ENST00000326639 NM_018078.3 207 Gtg/Atg 0 -LATS2 UCSF GRCh37 13 21555650 21555650 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 18 51 0 ENST00000382592.4:c.2620G>A p.Val874Met p.V874M ENST00000382592 NM_014572.2 874 Gtg/Atg 0 -LAX1 UCSF GRCh37 1 203743271 203743271 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 29 57 0 ENST00000442561.2:c.659C>T p.Pro220Leu p.P220L ENST00000442561 NM_017773.3 220 cCc/cTc 0 -LAYN UCSF GRCh37 11 111414791 111414791 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 45 71 0 ENST00000375615.3:c.253G>A p.Asp85Asn p.D85N ENST00000375615 NM_001258390.1 85 Gat/Aat 0 -LAYN UCSF GRCh37 11 111425932 111425932 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 36 82 0 ENST00000375615.3:c.599G>A p.Gly200Asp p.G200D ENST00000375615 NM_001258390.1 200 gGt/gAt 0 -LCA5L UCSF GRCh37 21 40777899 40777899 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 29 36 0 ENST00000288350.3:c.1922C>T p.Thr641Ile p.T641I ENST00000288350 641 aCc/aTc 0 -LCA5L UCSF GRCh37 21 40778307 40778307 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 34 88 0 ENST00000288350.3:c.1514C>T p.Thr505Ile p.T505I ENST00000288350 505 aCa/aTa 0 -LCE1E UCSF GRCh37 1 152760093 152760093 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.064,1000g2011may_all_0.1443,snp132_rs112600788 P05_Rec Untested WXS Illumina HiSeq 100 15 24 0 ENST00000368770.3:c.318T>C p.Cys106= p.C106= ENST00000368770 NM_178353.1 106 tgT/tgC 0 -LCE5A UCSF GRCh37 1 152484018 152484018 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 112 61 71 0 ENST00000334269.2:c.8G>A p.Cys3Tyr p.C3Y ENST00000334269 NM_178438.4 3 tGc/tAc 0 -LCK UCSF GRCh37 1 32751132 32751132 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 21 42 0 ENST00000336890.5:c.1345G>A p.Val449Met p.V449M ENST00000336890 NM_005356.3 449 Gtg/Atg 0 -LCN10 UCSF GRCh37 9 139635365 139635365 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 35 30 0 ENST00000474369.1:c.359C>T p.Ser120Phe p.S120F ENST00000474369 120 tCc/tTc 0 -LEMD1 UCSF GRCh37 1 205385359 205385359 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 45 39 0 ENST00000367151.2:c.147+1G>A p.X49_splice ENST00000367151 NM_001199051.1 0 -LEO1 UCSF GRCh37 15 52258437 52258437 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 146 76 135 0 ENST00000299601.5:c.323G>A p.Ser108Asn p.S108N ENST00000299601 NM_138792.2 108 aGt/aAt 0 -LETMD1 UCSF GRCh37 12 51445875 51445875 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 107 41 116 0 ENST00000262055.4:c.275G>A p.Gly92Glu p.G92E ENST00000262055 NM_015416.4 92 gGa/gAa 0 -LILRB3 UCSF GRCh37 19 54725744 54725744 + stop_gained Nonsense_Mutation SNP C C T 1000g2011may_all_0.0238,snp132_rs59533602 P05_Rec Untested WXS Illumina HiSeq 45 8 24 0 ENST00000245620.9:c.614G>A p.Trp205Ter p.W205* ENST00000245620 205 tGg/tAg 0 -LILRB3 UCSF GRCh37 19 54725755 54725755 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.020,1000g2011may_all_0.1385,snp132_rs1052971 P05_Rec Untested WXS Illumina HiSeq 43 7 20 1 ENST00000245620.9:c.603A>G p.Thr201= p.T201= ENST00000245620 201 acA/acG 0 -LILRB4 UCSF GRCh37 19 55175893 55175893 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 99 45 70 0 ENST00000391736.1:c.612C>T p.Tyr204= p.Y204= ENST00000391736 NM_001278430.2 204 taC/taT 0 -LIMCH1 UCSF GRCh37 4 41648199 41648199 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 51 62 0 ENST00000313860.7:c.1158G>A p.Glu386= p.E386= ENST00000313860 NM_014988.2 386 gaG/gaA 0 -LINGO2 UCSF GRCh37 9 27948893 27948893 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 86 46 82 0 ENST00000308675.3:c.1777G>A p.Gly593Arg p.G593R ENST00000308675 593 Ggg/Agg 0 -LINS UCSF GRCh37 15 101114038 101114038 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 95 44 142 0 ENST00000314742.8:c.1040C>T p.Ser347Leu p.S347L ENST00000314742 NM_001040616.2 347 tCg/tTg 0 -LMBRD2 UCSF GRCh37 5 36143394 36143394 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 33 40 0 ENST00000296603.4:c.58C>T p.Leu20= p.L20= ENST00000296603 NM_001007527.1 20 Ctg/Ttg 0 -LMLN UCSF GRCh37 3 197748316 197748316 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 88 26 122 0 ENST00000330198.4:c.1366-1G>A p.X456_splice ENST00000330198 NM_033029.3 0 -LMTK2 UCSF GRCh37 7 97821211 97821211 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 36 57 0 ENST00000297293.5:c.1434G>A p.Trp478Ter p.W478* ENST00000297293 NM_014916.3 478 tgG/tgA 0 -LOC100130357 UCSF GRCh37 6 13281226 13281226 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 34 58 0 ENST00000606150.1:n.606C>T *202* ENST00000606150 0 -LOC100653515 UCSF GRCh37 17 76887469 76887469 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 61 75 0 ENST00000322630.2:c.1117C>T p.Pro373Ser p.P373S ENST00000322630 NM_001243540.1 373 Cct/Tct 0 -LOC81691 UCSF GRCh37 16 20837259 20837259 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 32 70 0 ENST00000261377.6:c.810C>T p.Asp270= p.D270= ENST00000261377 NM_030941.2 270 gaC/gaT 0 -LOXL1 UCSF GRCh37 15 74239441 74239441 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 22 51 0 ENST00000261921.7:c.1383C>T p.Tyr461= p.Y461= ENST00000261921 NM_005576.2 461 taC/taT 0 -LPHN1 UCSF GRCh37 19 14271099 14271099 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 23 17 0 ENST00000340736.6:c.1640G>A p.Gly547Glu p.G547E ENST00000340736 NM_001008701.2 547 gGg/gAg 0 -LPP UCSF GRCh37 3 188327481 188327481 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 43 83 0 ENST00000312675.4:c.962G>A p.Gly321Asp p.G321D ENST00000312675 NM_005578.3 321 gGt/gAt 0 -LRIG3 UCSF GRCh37 12 59271268 59271268 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 24 56 0 ENST00000320743.3:c.2450G>A p.Cys817Tyr p.C817Y ENST00000320743 NM_153377.4 817 tGc/tAc 0 -LRP1 UCSF GRCh37 12 57599204 57599204 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 37 22 0 ENST00000243077.3:c.11406G>A p.Glu3802= p.E3802= ENST00000243077 NM_002332.2 3802 gaG/gaA 0 -LRP1B UCSF GRCh37 2 141115574 141115574 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 43 72 0 ENST00000389484.3:c.11369G>A p.Gly3790Asp p.G3790D ENST00000389484 NM_018557.2 3790 gGt/gAt 0 -LRP2 UCSF GRCh37 2 170136105 170136105 + missense_variant,splice_region_variant Missense_Mutation SNP C C A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 24 34 0 ENST00000263816.3:c.1342G>T p.Val448Phe p.V448F ENST00000263816 NM_004525.2 448 Gtt/Ttt 0 -LRRC16B UCSF GRCh37 14 24531705 24531705 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 111 80 105 0 ENST00000342740.5:c.2497G>A p.Val833Ile p.V833I ENST00000342740 NM_138360.3 833 Gtc/Atc 0 -LRRC37A3 UCSF GRCh37 17 62856791 62856791 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 151 100 141 0 ENST00000319651.5:c.3473G>A p.Gly1158Asp p.G1158D ENST00000319651 1158 gGc/gAc 0 -LRRC37B UCSF GRCh37 17 30374838 30374838 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 177 107 160 0 ENST00000341671.7:c.2301G>A p.Arg767= p.R767= ENST00000341671 NM_052888.2 767 cgG/cgA 0 -LRRC48 UCSF GRCh37 17 17907751 17907751 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 43 71 0 ENST00000313838.8:c.1074C>T p.Ile358= p.I358= ENST00000313838 NM_001130090.1 358 atC/atT 0 -LRRC4C UCSF GRCh37 11 40136757 40136757 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 52 100 0 ENST00000278198.2:c.1086C>T p.Asp362= p.D362= ENST00000278198 362 gaC/gaT 0 -LRRC59 UCSF GRCh37 17 48474579 48474579 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 41 22 0 ENST00000225972.7:c.100G>A p.Glu34Lys p.E34K ENST00000225972 NM_018509.3 34 Gag/Aag 0 -LRRC61 UCSF GRCh37 7 150034385 150034385 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 81 25 31 0 ENST00000323078.7:c.435C>T p.Ser145= p.S145= ENST00000323078 NM_023942.2 145 tcC/tcT 0 -LRRC7 UCSF GRCh37 1 70541956 70541956 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 33 68 0 ENST00000035383.5:c.4313G>A p.Arg1438Lys p.R1438K ENST00000035383 NM_020794.2 1438 aGg/aAg 0 -LRRC71 UCSF GRCh37 1 156899150 156899150 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 25 53 0 ENST00000337428.7:c.1075G>A p.Val359Met p.V359M ENST00000337428 NM_144702.2 359 Gtg/Atg 0 -LRRC8E UCSF GRCh37 19 7964090 7964090 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 33 35 0 ENST00000306708.6:c.683G>A p.Gly228Asp p.G228D ENST00000306708 NM_025061.4 228 gGt/gAt 0 -LRRFIP1 UCSF GRCh37 2 238671627 238671627 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 35 103 0 ENST00000392000.4:c.1271G>A p.Gly424Glu p.G424E ENST00000392000 NM_001137552.1 424 gGa/gAa 0 -LRRN4CL UCSF GRCh37 11 62455781 62455781 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 18 7 8 0 ENST00000317449.4:c.200G>A p.Gly67Glu p.G67E ENST00000317449 NM_203422.3 67 gGg/gAg 0 -LRTM1 UCSF GRCh37 3 54958759 54958759 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 29 74 0 ENST00000273286.5:c.491C>T p.Ala164Val p.A164V ENST00000273286 NM_020678.2 164 gCg/gTg 0 -LSM12 UCSF GRCh37 17 42141194 42141194 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 27 19 45 0 ENST00000293406.3:c.233C>T p.Pro78Leu p.P78L ENST00000293406 78 cCc/cTc 0 -LSR UCSF GRCh37 19 35739826 35739826 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 36 25 0 ENST00000361790.3:c.45G>A p.Gly15= p.G15= ENST00000361790 NM_205834.3 15 ggG/ggA 0 -LTBP1 UCSF GRCh37 2 33623560 33623560 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 33 68 0 ENST00000404816.2:c.5114G>A p.Cys1705Tyr p.C1705Y ENST00000404816 1705 tGc/tAc 0 -LUZP4 UCSF GRCh37 X 114537919 114537919 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 84 105 0 ENST00000371920.3:c.278C>T p.Ser93Phe p.S93F ENST00000371920 NM_016383.3 93 tCc/tTc 0 -LY6D UCSF GRCh37 8 143866676 143866676 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 16 11 0 ENST00000301263.4:c.348C>T p.Ala116= p.A116= ENST00000301263 NM_003695.2 116 gcC/gcT 0 -LY6G6F UCSF GRCh37 6 31675728 31675728 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 30 77 0 ENST00000375832.4:c.463G>A p.Asp155Asn p.D155N ENST00000375832 NM_001003693.1 155 Gac/Aac 0 -LY75 UCSF GRCh37 2 160738710 160738710 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 94 65 110 0 ENST00000263636.4:c.1171G>A p.Ala391Thr p.A391T ENST00000263636 NM_002349.3 391 Gcc/Acc 0 -LY9 UCSF GRCh37 1 160793410 160793410 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 51 71 0 ENST00000263285.6:c.1654G>A p.Val552Met p.V552M ENST00000263285 552 Gtg/Atg 0 -LY9 UCSF GRCh37 1 160784304 160784304 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 24 49 0 ENST00000263285.6:c.825G>A p.Arg275= p.R275= ENST00000263285 275 cgG/cgA 0 -LYZL1 UCSF GRCh37 10 29581576 29581576 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 34 79 0 ENST00000375500.3:c.406G>A p.Glu136Lys p.E136K ENST00000375500 NM_032517.4 136 Gag/Aag 0 -LZIC UCSF GRCh37 1 9995591 9995591 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 118 60 106 0 ENST00000377213.1:c.196G>A p.Gly66Arg p.G66R ENST00000377213 66 Gga/Aga 0 -LZTS2 UCSF GRCh37 10 102763808 102763808 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 23 28 0 ENST00000370220.1:c.953C>T p.Pro318Leu p.P318L ENST00000370220 318 cCt/cTt 0 -MACF1 UCSF GRCh37 1 39823224 39823224 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 33 64 0 ENST00000372915.3:c.11617G>A p.Glu3873Lys p.E3873K ENST00000372915 3873 Gaa/Aaa 0 -MACF1 UCSF GRCh37 1 39905119 39905119 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 25 66 0 ENST00000372915.3:c.18091G>A p.Glu6031Lys p.E6031K ENST00000372915 6031 Gaa/Aaa 0 -MACF1 UCSF GRCh37 1 39916782 39916782 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 37 70 0 ENST00000372915.3:c.20014G>A p.Ala6672Thr p.A6672T ENST00000372915 6672 Gca/Aca 0 -MAD1L1 UCSF GRCh37 7 2054237 2054237 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 12 12 0 ENST00000265854.7:c.1259G>A p.Ser420Asn p.S420N ENST00000265854 420 aGc/aAc 0 -MAG UCSF GRCh37 19 35786832 35786832 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 163 108 91 0 ENST00000392213.3:c.363G>A p.Leu121= p.L121= ENST00000392213 NM_002361.3 121 ctG/ctA 0 -MAGEE2 UCSF GRCh37 X 75004566 75004566 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 22 31 0 ENST00000373359.2:c.321G>A p.Gly107= p.G107= ENST00000373359 NM_138703.4 107 ggG/ggA 0 -MAGI2 UCSF GRCh37 7 78131015 78131015 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 120 29 61 0 ENST00000354212.4:c.844G>A p.Glu282Lys p.E282K ENST00000354212 NM_012301.3 282 Gag/Aag 0 -MALL UCSF GRCh37 2 110849244 110849244 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 20 93 0 ENST00000272462.2:c.209C>T p.Ser70Phe p.S70F ENST00000272462 NM_005434.4 70 tCc/tTc 0 -MALL UCSF GRCh37 2 110849239 110849239 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 83 19 90 0 ENST00000272462.2:c.214A>C p.Met72Leu p.M72L ENST00000272462 NM_005434.4 72 Atg/Ctg 0 -MAN1A1 UCSF GRCh37 6 119623264 119623264 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 19 39 0 ENST00000368468.3:c.705C>T p.Asn235= p.N235= ENST00000368468 NM_005907.3 235 aaC/aaT 0 -MAN2C1 UCSF GRCh37 15 75648258 75648258 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 27 19 0 ENST00000267978.5:c.3112C>T p.Pro1038Ser p.P1038S ENST00000267978 NM_006715.3 1038 Ccg/Tcg 0 -MANSC1 UCSF GRCh37 12 12483769 12483769 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 32 91 0 ENST00000535902.1:c.488C>T p.Pro163Leu p.P163L ENST00000535902 163 cCc/cTc 0 -MAP1A UCSF GRCh37 15 43822285 43822285 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 48 77 0 ENST00000300231.5:c.8275C>T p.His2759Tyr p.H2759Y ENST00000300231 2759 Cat/Tat 0 -MAP1A UCSF GRCh37 15 43821976 43821976 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 36 27 0 ENST00000300231.5:c.8164G>A p.Val2722Ile p.V2722I ENST00000300231 2722 Gtc/Atc 0 -MAP2 UCSF GRCh37 2 210559366 210559366 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 137 71 123 0 ENST00000360351.4:c.2472A>G p.Ala824= p.A824= ENST00000360351 NM_002374.3 824 gcA/gcG 0 -MAP3K12 UCSF GRCh37 12 53881086 53881086 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 42 39 0 ENST00000267079.2:c.90C>T p.Asp30= p.D30= ENST00000267079 NM_006301.3 30 gaC/gaT 0 -MAP3K13 UCSF GRCh37 3 185161342 185161342 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 29 89 0 ENST00000265026.3:c.769G>A p.Val257Ile p.V257I ENST00000265026 NM_004721.4 257 Gta/Ata 0 -MAP3K15 UCSF GRCh37 X 19478195 19478195 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 63 122 0 ENST00000338883.4:c.796G>A p.Glu266Lys p.E266K ENST00000338883 NM_001001671.3 266 Gag/Aag 0 -MAP3K2 UCSF GRCh37 2 128075877 128075877 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 74 118 0 ENST00000344908.5:c.1062C>T p.Thr354= p.T354= ENST00000344908 NM_006609.4 354 acC/acT 0 -MAP3K6 UCSF GRCh37 1 27690766 27690766 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 31 29 0 ENST00000357582.2:c.624G>A p.Gly208= p.G208= ENST00000357582 208 ggG/ggA 0 -MAP4K1 UCSF GRCh37 19 39086617 39086617 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 56 66 0 ENST00000591517.1:c.2141C>T p.Thr714Ile p.T714I ENST00000591517 NM_007181.4 714 aCc/aTc 0 -MAP4K4 UCSF GRCh37 2 102460666 102460666 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 45 43 0 ENST00000347699.4:c.1126C>T p.Leu376= p.L376= ENST00000347699 NM_145687.3 376 Cta/Tta 0 -MARCH7 UCSF GRCh37 2 160615737 160615737 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 43 62 0 ENST00000259050.4:c.1784G>A p.Gly595Asp p.G595D ENST00000259050 NM_022826.2 595 gGt/gAt 0 -MARK2 UCSF GRCh37 11 63670230 63670230 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 21 16 0 ENST00000402010.2:c.1392G>A p.Lys464= p.K464= ENST00000402010 NM_001039469.2 464 aaG/aaA 0 -MAST3 UCSF GRCh37 19 18232506 18232506 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 104 83 55 0 ENST00000262811.6:c.83G>A p.Gly28Glu p.G28E ENST00000262811 NM_015016.1 28 gGg/gAg 0 -MAT2A UCSF GRCh37 2 85769819 85769819 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 38 48 0 ENST00000306434.3:c.900G>A p.Trp300Ter p.W300* ENST00000306434 NM_005911.5 300 tgG/tgA 0 -MATN4 UCSF GRCh37 20 43932943 43932943 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 37 9 0 ENST00000372754.1:c.568G>A p.Asp190Asn p.D190N ENST00000372754 190 Gac/Aac 0 -MATR3 UCSF GRCh37 5 138643547 138643547 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 47 74 0 ENST00000394805.3:c.443G>A p.Arg148Lys p.R148K ENST00000394805 NM_001194955.1 148 aGg/aAg 0 -MAX UCSF GRCh37 14 65472892 65472898 + intron_variant Intron INS GCCACCA GCCACCA TGCCCCCT NOVEL P05_Rec Untested WXS Illumina HiSeq 6 0 ENST00000246166.2:c.209+1861_209+1867delinsTGCCCCCT *70* ENST00000246166 NM_002028.3 0 -MBD6 UCSF GRCh37 12 57919877 57919877 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 40 55 0 ENST00000355673.3:c.1126C>T p.Leu376= p.L376= ENST00000355673 NM_052897.3 376 Cta/Tta 0 -MBIP UCSF GRCh37 14 36783783 36783783 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 21 11 0 ENST00000416007.4:c.506G>A p.Arg169Lys p.R169K ENST00000416007 NM_016586.2 169 aGa/aAa 0 -MCCC2 UCSF GRCh37 5 70945963 70945963 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 119 68 110 0 ENST00000340941.6:c.1441G>A p.Val481Met p.V481M ENST00000340941 NM_022132.4 481 Gtg/Atg 0 -MCM2 UCSF GRCh37 3 127338011 127338011 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 22 33 0 ENST00000265056.7:c.2155G>A p.Val719Ile p.V719I ENST00000265056 NM_004526.3 719 Gtc/Atc 0 -MCOLN1 UCSF GRCh37 19 7591679 7591679 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 32 31 0 ENST00000264079.6:c.438G>A p.Arg146= p.R146= ENST00000264079 NM_020533.2 146 cgG/cgA 0 -MDC1 UCSF GRCh37 6 30680044 30680044 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 37 62 0 ENST00000376406.3:c.1675C>T p.Pro559Ser p.P559S ENST00000376406 NM_014641.2 559 Cca/Tca 0 -MDFIC UCSF GRCh37 7 114655875 114655875 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 242 63 165 0 ENST00000393486.1:c.627G>A p.Gly209= p.G209= ENST00000393486 NM_001166345.1 209 ggG/ggA 0 -MDGA1 UCSF GRCh37 6 37614108 37614108 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 18 27 0 ENST00000434837.3:c.2090G>A p.Arg697His p.R697H ENST00000434837 NM_153487.3 697 cGt/cAt 0 -MDGA1 UCSF GRCh37 6 37619918 37619918 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 29 40 0 ENST00000434837.3:c.1181C>T p.Pro394Leu p.P394L ENST00000434837 NM_153487.3 394 cCc/cTc 0 -MDM4 UCSF GRCh37 1 204511996 204511996 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 80 47 90 0 ENST00000367182.3:c.596C>T p.Pro199Leu p.P199L ENST00000367182 NM_001278516.1 199 cCt/cTt 0 -MED1 UCSF GRCh37 17 37566483 37566483 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 46 118 0 ENST00000300651.6:c.1991G>A p.Ser664Asn p.S664N ENST00000300651 NM_004774.3 664 aGc/aAc 0 -MED22 UCSF GRCh37 9 136211168 136211168 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 119 62 59 0 ENST00000343730.5:c.225G>A p.Leu75= p.L75= ENST00000343730 NM_133640.4 75 ctG/ctA 0 -MED23 UCSF GRCh37 6 131917238 131917238 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 117 64 116 0 ENST00000368068.3:c.2844G>A p.Gln948= p.Q948= ENST00000368068 NM_004830.3 948 caG/caA 0 -MED23 UCSF GRCh37 6 131949151 131949151 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 36 50 0 ENST00000368068.3:c.39G>A p.Val13= p.V13= ENST00000368068 NM_004830.3 13 gtG/gtA 0 -MED24 UCSF GRCh37 17 38182450 38182450 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.00098 P05_Rec Untested WXS Illumina HiSeq 119 68 73 0 ENST00000394128.2:c.1944G>A p.Gly648= p.G648= ENST00000394128 NM_014815.3 648 ggG/ggA 0 -MEF2B UCSF GRCh37 19 19257881 19257881 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 16 6 8 0 ENST00000162023.5:c.505C>T p.Pro169Ser p.P169S ENST00000162023 169 Ccc/Tcc 0 -MEIG1 UCSF GRCh37 10 15014527 15014527 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 20 87 0 ENST00000378240.1:c.154G>A p.Glu52Lys p.E52K ENST00000378240 52 Gag/Aag 0 -MEIS2 UCSF GRCh37 15 37184661 37184661 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 71 108 0 ENST00000561208.1:c.1148-1G>A p.X383_splice ENST00000561208 0 -METAP2 UCSF GRCh37 12 95887890 95887890 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 36 59 0 ENST00000323666.5:c.487G>A p.Glu163Lys p.E163K ENST00000323666 NM_006838.3 163 Gaa/Aaa 0 -METTL21D UCSF GRCh37 14 50582895 50582895 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 101 81 99 0 ENST00000395860.2:c.269C>T p.Ala90Val p.A90V ENST00000395860 NM_024558.2 90 gCt/gTt 0 -MFAP4 UCSF GRCh37 17 19287934 19287934 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 20 35 0 ENST00000299610.4:c.609C>T p.Ser203= p.S203= ENST00000299610 NM_002404.2 203 tcC/tcT 0 -MFSD11 UCSF GRCh37 17 74771103 74771103 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 159 67 133 0 ENST00000336509.4:c.899G>A p.Ser300Asn p.S300N ENST00000336509 NM_001242533.1 300 aGc/aAc 0 -MGAM UCSF GRCh37 7 141738364 141738364 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 9 34 0 ENST00000549489.2:c.2265C>T p.His755= p.H755= ENST00000549489 NM_004668.2 755 caC/caT 0 -MGAT2 UCSF GRCh37 14 50088200 50088200 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 26 32 0 ENST00000305386.2:c.214G>A p.Ala72Thr p.A72T ENST00000305386 NM_002408.3 72 Gcg/Acg 0 -MGAT3 UCSF GRCh37 22 39884476 39884476 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 78 22 0 ENST00000341184.6:c.1124G>A p.Gly375Glu p.G375E ENST00000341184 NM_002409.4 375 gGg/gAg 0 -MGRN1 UCSF GRCh37 16 4731676 4731676 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 99 57 27 0 ENST00000399577.5:c.1257C>T p.Ile419= p.I419= ENST00000399577 NM_001142290.2 419 atC/atT 0 -MIA2 4253 UCSF GRCh37 14 39703402 39703402 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 145 53 157 0 ENST00000280082.3:c.84C>T p.Asp28= p.D28= ENST00000280082 NM_054024.3 28 gaC/gaT 0 -MIB1 UCSF GRCh37 18 19378066 19378066 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 44 88 0 ENST00000261537.6:c.1114G>A p.Val372Ile p.V372I ENST00000261537 NM_020774.3 372 Gta/Ata 0 -MILR1 UCSF GRCh37 17 62462747 62462747 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 41 51 0 ENST00000605096.1:c.184C>T p.Pro62Leu p.P62L ENST00000605096 NM_001085423.1 62 cCc/cTc 0 -MIXL1 UCSF GRCh37 1 226413277 226413277 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 53 80 0 ENST00000366810.5:c.463C>T p.Pro155Ser p.P155S ENST00000366810 155 Ccg/Tcg 0 -MKNK1 UCSF GRCh37 1 47048942 47048942 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 39 88 0 ENST00000371946.4:c.94C>T p.Arg32Trp p.R32W ENST00000371946 NM_003684.5 32 Cgg/Tgg 0 -MKS1 UCSF GRCh37 17 56294080 56294080 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 15 42 0 ENST00000393119.2:c.208G>A p.Glu70Lys p.E70K ENST00000393119 NM_017777.3 70 Gaa/Aaa 0 -MLL2 UCSF GRCh37 12 49424208 49424208 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 6 10 12 0 ENST00000301067.7:c.13854C>T p.Asn4618= p.N4618= ENST00000301067 NM_003482.3 4618 aaC/aaT 0 -MLL2 UCSF GRCh37 12 49432034 49432034 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 131 58 72 0 ENST00000301067.7:c.9105C>T p.Asp3035= p.D3035= ENST00000301067 NM_003482.3 3035 gaC/gaT 0 -MLL3 UCSF GRCh37 7 151835881 151835881 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 250 45 132 0 ENST00000262189.6:c.14643G>A p.Glu4881= p.E4881= ENST00000262189 NM_170606.2 4881 gaG/gaA 0 -MLLT4 UCSF GRCh37 6 168319538 168319538 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 21 44 0 ENST00000447894.2:c.2812G>A p.Asp938Asn p.D938N ENST00000447894 938 Gat/Aat 0 -MLLT6 UCSF GRCh37 17 36880878 36880878 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 14 15 0 ENST00000325718.7:c.2889C>T p.His963= p.H963= ENST00000325718 NM_005937.3 963 caC/caT 0 -MLNR UCSF GRCh37 13 49795343 49795343 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 16 10 0 ENST00000218721.1:c.870G>A p.Glu290= p.E290= ENST00000218721 NM_001507.1 290 gaG/gaA 0 -MLYCD UCSF GRCh37 16 83948616 83948616 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 344 144 159 0 ENST00000262430.4:c.1004C>T p.Thr335Ile p.T335I ENST00000262430 NM_012213.2 335 aCc/aTc 0 -MMAA UCSF GRCh37 4 146572288 146572288 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 16 31 44 0 ENST00000281317.5:c.808G>A p.Asp270Asn p.D270N ENST00000281317 NM_172250.2 270 Gat/Aat 0 -MMAA UCSF GRCh37 4 146575229 146575229 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 55 112 0 ENST00000281317.5:c.903G>A p.Arg301= p.R301= ENST00000281317 NM_172250.2 301 agG/agA 0 -MMP14 UCSF GRCh37 14 23311145 23311145 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 52 69 0 ENST00000311852.6:c.281G>A p.Gly94Asp p.G94D ENST00000311852 NM_004995.3 94 gGt/gAt 0 -MMP15 UCSF GRCh37 16 58079067 58079067 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 18 14 0 ENST00000219271.3:c.1727C>T p.Pro576Leu p.P576L ENST00000219271 NM_002428.2 576 cCc/cTc 0 -MMP16 UCSF GRCh37 8 89339416 89339416 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 60 74 0 ENST00000286614.6:c.20G>A p.Ser7Asn p.S7N ENST00000286614 NM_005941.4 7 aGc/aAc 0 -MMP17 UCSF GRCh37 12 132329946 132329946 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 48 18 8 0 ENST00000360564.1:c.1156G>A p.Asp386Asn p.D386N ENST00000360564 NM_016155.4 386 Gac/Aac 0 -MMP24 UCSF GRCh37 20 33839763 33839763 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 184 57 181 0 ENST00000246186.6:c.451C>T p.Arg151Trp p.R151W ENST00000246186 NM_006690.3 151 Cgg/Tgg 0 -MN1 UCSF GRCh37 22 28194159 28194159 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 55 32 16 0 ENST00000302326.4:c.2373C>T p.Phe791= p.F791= ENST00000302326 NM_002430.2 791 ttC/ttT 0 -MOBP UCSF GRCh37 3 39543657 39543657 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 158 73 51 0 ENST00000420739.1:c.97C>T p.Leu33Phe p.L33F ENST00000420739 33 Ctc/Ttc 0 -MOV10 UCSF GRCh37 1 113235546 113235546 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 12 7 15 0 ENST00000357443.2:c.1135C>T p.Leu379= p.L379= ENST00000357443 379 Ctg/Ttg 0 -MPDZ UCSF GRCh37 9 13183527 13183527 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 132 76 107 0 ENST00000319217.7:c.2539C>T p.Pro847Ser p.P847S ENST00000319217 NM_001261406.1 847 Cct/Tct 0 -MPP1 UCSF GRCh37 X 154018261 154018261 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 16 20 43 0 ENST00000369534.3:c.448C>T p.Pro150Ser p.P150S ENST00000369534 NM_001166461.1 150 Ccc/Tcc 0 -MPP3 UCSF GRCh37 17 41891415 41891415 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 76 106 0 ENST00000398389.4:c.1219G>A p.Ala407Thr p.A407T ENST00000398389 NM_001932.4 407 Gct/Act 0 -MPP3 UCSF GRCh37 17 41901303 41901303 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 27 43 0 ENST00000398389.4:c.680G>A p.Ser227Asn p.S227N ENST00000398389 NM_001932.4 227 aGc/aAc 0 -MRC2 UCSF GRCh37 17 60741999 60741999 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 47 47 0 ENST00000303375.5:c.209C>T p.Thr70Ile p.T70I ENST00000303375 NM_006039.4 70 aCc/aTc 0 -MRPL24 UCSF GRCh37 1 156708209 156708209 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 125 99 168 0 ENST00000361531.2:c.205G>A p.Asp69Asn p.D69N ENST00000361531 69 Gat/Aat 0 -MRPS17 UCSF GRCh37 7 56022616 56022616 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 278 93 183 0 ENST00000285298.4:c.138G>A p.Arg46= p.R46= ENST00000285298 NM_015969.2 46 cgG/cgA 0 -MRPS21 UCSF GRCh37 1 150266816 150266816 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 21 47 0 ENST00000369084.5:c.30G>A p.Arg10= p.R10= ENST00000369084 NM_018997.3 10 agG/agA 0 -MRPS24 UCSF GRCh37 7 43906315 43906315 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 23 76 0 ENST00000317534.5:c.487G>A p.Val163Met p.V163M ENST00000317534 NM_032014.2 163 Gtg/Atg 0 -MSH6 UCSF GRCh37 2 48030615 48030615 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 20 38 57 0 ENST00000234420.5:c.3229C>T p.Pro1077Ser p.P1077S ENST00000234420 NM_000179.2 1077 Cca/Tca 0 -MSL2 UCSF GRCh37 3 135871035 135871035 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 22 42 0 ENST00000309993.2:c.688G>A p.Asp230Asn p.D230N ENST00000309993 NM_018133.3 230 Gat/Aat 0 -MSLNL UCSF GRCh37 16 823159 823159 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 42 28 0 ENST00000442466.1:c.1056C>T p.Cys352= p.C352= ENST00000442466 352 tgC/tgT 0 -MST1R UCSF GRCh37 3 49928724 49928724 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 19 34 0 ENST00000296474.3:c.3550G>A p.Asp1184Asn p.D1184N ENST00000296474 NM_002447.2 1184 Gac/Aac 0 -MT1A UCSF GRCh37 16 56673188 56673188 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 133 23 81 0 ENST00000290705.8:c.41C>T p.Thr14Ile p.T14I ENST00000290705 NM_005946.2 14 aCc/aTc 0 -MTCH1 UCSF GRCh37 6 36940490 36940490 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 3 15 0 ENST00000373627.5:c.844G>A p.Val282Met p.V282M ENST00000373627 NM_001271641.1 282 Gtg/Atg 0 -MTERFD2 UCSF GRCh37 2 242038848 242038848 + synonymous_variant,NMD_transcript_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 40 82 0 ENST00000241527.6:c.483G>A p.Lys161= p.K161= ENST00000241527 161 aaG/aaA 0 -MTHFD1 UCSF GRCh37 14 64905841 64905841 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 16 41 0 ENST00000216605.8:c.1625G>A p.Arg542Lys p.R542K ENST00000216605 NM_005956.3 542 aGg/aAg 0 -MTL5 UCSF GRCh37 11 68480777 68480777 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 132 109 0 ENST00000255087.5:c.1119G>A p.Arg373= p.R373= ENST00000255087 NM_004923.3 373 agG/agA 0 -MTMR8 UCSF GRCh37 X 63574685 63574685 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 32 64 0 ENST00000374852.3:c.440C>T p.Thr147Ile p.T147I ENST00000374852 NM_017677.3 147 aCc/aTc 0 -MTMR8 UCSF GRCh37 X 63579408 63579408 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 46 53 0 ENST00000374852.3:c.25-1G>A p.X9_splice ENST00000374852 NM_017677.3 0 -MTNR1A UCSF GRCh37 4 187455161 187455161 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 73 107 0 ENST00000307161.5:c.735C>T p.Val245= p.V245= ENST00000307161 NM_005958.3 245 gtC/gtT 0 -MTPAP UCSF GRCh37 10 30625909 30625909 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 132 61 101 0 ENST00000263063.4:c.603G>A p.Glu201= p.E201= ENST00000263063 NM_018109.3 201 gaG/gaA 0 -MTR UCSF GRCh37 1 236998947 236998947 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 104 62 133 0 ENST00000366577.5:c.1289G>A p.Arg430Lys p.R430K ENST00000366577 NM_000254.2 430 aGa/aAa 0 -MTUS1 UCSF GRCh37 8 17612062 17612062 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 52 73 0 ENST00000262102.6:c.1255G>A p.Val419Ile p.V419I ENST00000262102 NM_001001924.2 419 Gtc/Atc 0 -MUC15 UCSF GRCh37 11 26584798 26584798 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 29 48 76 0 ENST00000455601.2:c.709G>A p.Gly237Arg p.G237R ENST00000455601 NM_145650.3 237 Gga/Aga 0 -MUC16 UCSF GRCh37 19 9027261 9027261 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 22 29 0 ENST00000397910.4:c.36625G>A p.Asp12209Asn p.D12209N ENST00000397910 NM_024690.2 12209 Gat/Aat 0 -MUC16 UCSF GRCh37 19 9047729 9047729 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 84 58 81 0 ENST00000397910.4:c.33902C>T p.Ala11301Val p.A11301V ENST00000397910 NM_024690.2 11301 gCa/gTa 0 -MUC16 UCSF GRCh37 19 9067981 9067981 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 108 51 127 0 ENST00000397910.4:c.19465C>T p.Leu6489Phe p.L6489F ENST00000397910 NM_024690.2 6489 Ctt/Ttt 0 -MUC16 UCSF GRCh37 19 9073785 9073785 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 131 90 123 0 ENST00000397910.4:c.13661C>T p.Thr4554Ile p.T4554I ENST00000397910 NM_024690.2 4554 aCt/aTt 0 -MUC16 UCSF GRCh37 19 9084076 9084076 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 135 78 136 0 ENST00000397910.4:c.7739C>T p.Thr2580Ile p.T2580I ENST00000397910 NM_024690.2 2580 aCa/aTa 0 -MUC16 UCSF GRCh37 19 9084824 9084824 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 115 65 140 0 ENST00000397910.4:c.6991C>T p.Leu2331Phe p.L2331F ENST00000397910 NM_024690.2 2331 Ctc/Ttc 0 -MUC17 UCSF GRCh37 7 100677195 100677195 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 357 101 228 0 ENST00000306151.4:c.2498C>T p.Ser833Phe p.S833F ENST00000306151 NM_001040105.1 833 tCc/tTc 0 -MUC21 UCSF GRCh37 6 30955956 30955956 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 13 35 0 ENST00000376296.3:c.1686G>A p.Arg562= p.R562= ENST00000376296 NM_001010909.2 562 agG/agA 0 -MUC4 UCSF GRCh37 3 195507907 195507907 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 677 83 477 0 ENST00000463781.3:c.10544C>T p.Thr3515Ile p.T3515I ENST00000463781 NM_018406.6 3515 aCc/aTc 0 -MUC4 UCSF GRCh37 3 195518202 195518202 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 132 111 239 0 ENST00000463781.3:c.249G>A p.Glu83= p.E83= ENST00000463781 NM_018406.6 83 gaG/gaA 0 -MUC4 UCSF GRCh37 3 195510396 195510396 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 60 10 97 1 ENST00000463781.3:c.8055T>G p.His2685Gln p.H2685Q ENST00000463781 NM_018406.6 2685 caT/caG 0 -MUC4 UCSF GRCh37 3 195508523 195508523 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 9 35 1 ENST00000463781.3:c.9928G>A p.Ala3310Thr p.A3310T ENST00000463781 NM_018406.6 3310 Gcc/Acc 0 -MUC5B UCSF GRCh37 11 1250478 1250478 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 10 10 8 0 ENST00000529681.1:c.1055C>T p.Ala352Val p.A352V ENST00000529681 NM_002458.2 352 gCg/gTg 0 -MUC5B UCSF GRCh37 11 1266696 1266696 + synonymous_variant Silent SNP A A C 1000g2011may_all_0.1446,snp132_rs4046509 P05_Rec Untested WXS Illumina HiSeq 22 3 37 0 ENST00000529681.1:c.8586A>C p.Pro2862= p.P2862= ENST00000529681 NM_002458.2 2862 ccA/ccC 0 -MUC6 UCSF GRCh37 11 1017480 1017480 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 530 121 459 0 ENST00000421673.2:c.5321C>T p.Thr1774Ile p.T1774I ENST00000421673 NM_005961.2 1774 aCc/aTc 0 -MUC6 UCSF GRCh37 11 1027375 1027375 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 71 69 0 ENST00000421673.2:c.2124C>T p.Tyr708= p.Y708= ENST00000421673 NM_005961.2 708 taC/taT 0 -MYC UCSF GRCh37 8 128750682 128750682 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 68 50 17 0 ENST00000377970.2:c.219C>T p.Thr73= p.T73= ENST00000377970 NM_002467.4 73 acC/acT 0 -MYH10 UCSF GRCh37 17 8379127 8379127 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 61 95 0 ENST00000269243.4:c.5926G>A p.Glu1976Lys p.E1976K ENST00000269243 NM_005964.3 1976 Gag/Aag 0 -MYH10 UCSF GRCh37 17 8416891 8416891 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 52 37 66 0 ENST00000269243.4:c.2617G>A p.Gly873Arg p.G873R ENST00000269243 NM_005964.3 873 Gga/Aga 0 -MYH11 UCSF GRCh37 16 15826454 15826454 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 56 91 0 ENST00000300036.5:c.3618G>A p.Glu1206= p.E1206= ENST00000300036 NM_002474.2 1206 gaG/gaA 0 -MYH14 UCSF GRCh37 19 50764856 50764856 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 17 14 0 ENST00000376970.2:c.2525C>T p.Ser842Phe p.S842F ENST00000376970 NM_024729.3 842 tCc/tTc 0 -MYH14 UCSF GRCh37 19 50783378 50783378 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 26 24 0 ENST00000376970.2:c.4093G>A p.Ala1365Thr p.A1365T ENST00000376970 NM_024729.3 1365 Gcc/Acc 0 -MYH2 UCSF GRCh37 17 10436690 10436690 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 68 36 98 0 ENST00000245503.5:c.2353G>A p.Asp785Asn p.D785N ENST00000245503 NM_017534.5 785 Gac/Aac 0 -MYO18A UCSF GRCh37 17 27434097 27434097 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 40 43 0 ENST00000527372.1:c.3441+1G>A p.X1147_splice ENST00000527372 NM_078471.3 0 -MYO18B UCSF GRCh37 22 26239836 26239836 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 43 57 0 ENST00000536101.1:c.3343C>T p.Pro1115Ser p.P1115S ENST00000536101 1115 Ccc/Tcc 0 -MYO18B UCSF GRCh37 22 26422815 26422815 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 36 25 0 ENST00000536101.1:c.6875G>A p.Gly2292Asp p.G2292D ENST00000536101 2292 gGc/gAc 0 -MYO1D UCSF GRCh37 17 31039119 31039119 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 114 77 109 0 ENST00000318217.5:c.2008G>A p.Asp670Asn p.D670N ENST00000318217 NM_015194.1 670 Gat/Aat 0 -MYO1E UCSF GRCh37 15 59548493 59548493 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 21 11 45 0 ENST00000288235.4:c.322G>A p.Val108Ile p.V108I ENST00000288235 NM_004998.3 108 Gtc/Atc 0 -MYO1E UCSF GRCh37 15 59515337 59515337 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 37 79 0 ENST00000288235.4:c.831G>A p.Gln277= p.Q277= ENST00000288235 NM_004998.3 277 caG/caA 0 -MYO1H UCSF GRCh37 12 109874303 109874303 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 18 58 0 ENST00000310903.5:c.2103C>T p.Ile701= p.I701= ENST00000310903 701 atC/atT 0 -MYO5A UCSF GRCh37 15 52720755 52720755 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 47 104 0 ENST00000399231.3:c.150C>T p.Tyr50= p.Y50= ENST00000399231 NM_000259.3 50 taC/taT 0 -MYO5B UCSF GRCh37 18 47363930 47363930 + synonymous_variant Silent SNP A A G snp132_rs79271359 P05_Rec Untested WXS Illumina HiSeq 82 10 54 1 ENST00000285039.7:c.5095T>C p.Leu1699= p.L1699= ENST00000285039 NM_001080467.2 1699 Ttg/Ctg 0 -MYO5B UCSF GRCh37 18 47363931 47363931 + synonymous_variant Silent SNP G G C snp132_rs77840018 P05_Rec Untested WXS Illumina HiSeq 83 10 54 1 ENST00000285039.7:c.5094C>G p.Leu1698= p.L1698= ENST00000285039 NM_001080467.2 1698 ctC/ctG 0 -MYO7A UCSF GRCh37 11 76867778 76867778 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 165 28 105 0 ENST00000409709.3:c.543G>T p.Gln181His p.Q181H ENST00000409709 NM_000260.3 181 caG/caT 0 -MYO9B UCSF GRCh37 19 17305959 17305959 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 43 20 0 ENST00000594824.1:c.3723G>A p.Gly1241= p.G1241= ENST00000594824 1241 ggG/ggA 0 -MYOC UCSF GRCh37 1 171621570 171621570 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 34 42 0 ENST00000037502.6:c.182G>A p.Cys61Tyr p.C61Y ENST00000037502 NM_000261.1 61 tGc/tAc 0 -MYOG UCSF GRCh37 1 203054970 203054970 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 58 38 0 ENST00000241651.4:c.120C>T p.Leu40= p.L40= ENST00000241651 NM_002479.5 40 ctC/ctT 0 -MYOM1 UCSF GRCh37 18 3071858 3071858 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 12 24 0 ENST00000356443.4:c.4738G>A p.Asp1580Asn p.D1580N ENST00000356443 NM_019856.1 1580 Gac/Aac 0 -MYOM1 UCSF GRCh37 18 3188757 3188757 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 31 68 0 ENST00000356443.4:c.760C>T p.Leu254= p.L254= ENST00000356443 NM_019856.1 254 Ctg/Ttg 0 -MYOM3 UCSF GRCh37 1 24398469 24398469 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 14 43 0 ENST00000374434.3:c.3003C>T p.Ile1001= p.I1001= ENST00000374434 NM_152372.3 1001 atC/atT 0 -NAA15 UCSF GRCh37 4 140262178 140262178 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 27 59 0 ENST00000296543.5:c.357C>T p.Asp119= p.D119= ENST00000296543 NM_057175.3 119 gaC/gaT 0 -NAA25 UCSF GRCh37 12 112528571 112528571 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 52 78 0 ENST00000261745.4:c.242C>T p.Ser81Leu p.S81L ENST00000261745 NM_024953.3 81 tCa/tTa 0 -NAA30 UCSF GRCh37 14 57858361 57858361 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 200 157 117 1 ENST00000556492.1:c.686G>A p.Arg229Lys p.R229K ENST00000556492 NM_001011713.2 229 aGa/aAa 0 -NAALADL1 UCSF GRCh37 11 64822020 64822020 + missense_variant Missense_Mutation SNP G G A snp132_rs35867135 P05_Rec Untested WXS Illumina HiSeq 25 19 17 0 ENST00000358658.3:c.794C>T p.Pro265Leu p.P265L ENST00000358658 NM_005468.2 265 cCc/cTc 0 -NAALADL1 UCSF GRCh37 11 64815162 64815162 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 8 8 0 ENST00000358658.3:c.1465C>T p.Arg489Trp p.R489W ENST00000358658 NM_005468.2 489 Cgg/Tgg 0 -NACC1 UCSF GRCh37 19 13246770 13246770 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 17 8 0 ENST00000292431.4:c.749G>A p.Gly250Glu p.G250E ENST00000292431 NM_052876.3 250 gGg/gAg 0 -NAGS UCSF GRCh37 17 42085896 42085896 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 154 100 130 0 ENST00000293404.3:c.1532C>T p.Ser511Phe p.S511F ENST00000293404 NM_153006.2 511 tCc/tTc 0 -NARF UCSF GRCh37 17 80422223 80422223 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 44 65 0 ENST00000309794.11:c.169G>A p.Asp57Asn p.D57N ENST00000309794 NM_031968.2 57 Gac/Aac 0 -NARFL UCSF GRCh37 16 784752 784752 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 54 45 0 ENST00000251588.2:c.559G>A p.Ala187Thr p.A187T ENST00000251588 NM_022493.1 187 Gcc/Acc 0 -NBPF3 UCSF GRCh37 1 21804669 21804669 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 201 128 274 0 ENST00000318249.5:c.1025C>T p.Pro342Leu p.P342L ENST00000318249 NM_032264.4 342 cCc/cTc 0 -NCAM1 UCSF GRCh37 11 113085228 113085228 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 95 40 97 0 ENST00000316851.7:c.1024G>A p.Glu342Lys p.E342K ENST00000316851 NM_181351.4 342 Gaa/Aaa 0 -NCAN UCSF GRCh37 19 19327790 19327790 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 52 78 0 ENST00000252575.6:c.28G>A p.Gly10Ser p.G10S ENST00000252575 NM_004386.2 10 Ggc/Agc 0 -NCAPH UCSF GRCh37 2 97026441 97026441 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 84 66 77 0 ENST00000240423.4:c.1580G>A p.Gly527Asp p.G527D ENST00000240423 NM_001281711.1 527 gGc/gAc 0 -NCOA1 UCSF GRCh37 2 24930252 24930252 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 45 73 0 ENST00000348332.3:c.1913C>T p.Thr638Ile p.T638I ENST00000348332 NM_147233.2 638 aCa/aTa 0 -NCOA5 UCSF GRCh37 20 44691394 44691394 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 100 43 73 0 ENST00000290231.6:c.1285C>T p.Gln429Ter p.Q429* ENST00000290231 NM_020967.2 429 Caa/Taa 0 -NCOR2 UCSF GRCh37 12 124848269 124848269 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 18 27 0 ENST00000405201.1:c.2884G>A p.Asp962Asn p.D962N ENST00000405201 962 Gac/Aac 0 -NCOR2 UCSF GRCh37 12 124819735 124819735 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 14 10 0 ENST00000405201.1:c.6357C>T p.Thr2119= p.T2119= ENST00000405201 2119 acC/acT 0 -NDNF UCSF GRCh37 4 121957629 121957629 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 95 73 83 0 ENST00000379692.4:c.1497C>T p.Asn499= p.N499= ENST00000379692 NM_024574.3 499 aaC/aaT 0 -NDUFB10 UCSF GRCh37 16 2011557 2011557 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 44 37 0 ENST00000268668.6:c.329G>A p.Arg110Lys p.R110K ENST00000268668 NM_004548.2 110 aGg/aAg 0 -NDUFS2 UCSF GRCh37 1 161173255 161173255 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 14 15 0 ENST00000367993.3:c.124G>A p.Glu42Lys p.E42K ENST00000367993 NM_004550.4 42 Gaa/Aaa 0 -NDUFV1 UCSF GRCh37 11 67378012 67378012 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 13 31 0 ENST00000322776.6:c.671G>T p.Arg224Leu p.R224L ENST00000322776 NM_001166102.1 224 cGc/cTc 0 -NEB UCSF GRCh37 2 152580850 152580850 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 45 77 0 ENST00000172853.10:c.536C>T p.Thr179Ile p.T179I ENST00000172853 179 aCc/aTc 0 -NEFH UCSF GRCh37 22 29881757 29881757 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 40 18 32 0 ENST00000310624.6:c.1129G>A p.Glu377Lys p.E377K ENST00000310624 NM_021076.3 377 Gag/Aag 0 -NET1 UCSF GRCh37 10 5498729 5498729 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 86 45 84 0 ENST00000355029.4:c.1563G>A p.Glu521= p.E521= ENST00000355029 NM_001047160.2 521 gaG/gaA 0 -NFATC4 UCSF GRCh37 14 24843593 24843593 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 10 34 0 ENST00000250373.4:c.1794G>A p.Val598= p.V598= ENST00000250373 NM_004554.4 598 gtG/gtA 0 -NFE2L1 UCSF GRCh37 17 46128766 46128766 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 61 49 0 ENST00000362042.3:c.286C>T p.Pro96Ser p.P96S ENST00000362042 NM_003204.2 96 Cca/Tca 0 -NFE2L1 UCSF GRCh37 17 46128657 46128657 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 107 74 99 0 ENST00000362042.3:c.177G>A p.Arg59= p.R59= ENST00000362042 NM_003204.2 59 agG/agA 0 -NFE2L2 UCSF GRCh37 2 178095714 178095714 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 141 84 116 0 ENST00000397062.3:c.1617G>A p.Leu539= p.L539= ENST00000397062 NM_006164.4 539 ttG/ttA 0 -NFRKB UCSF GRCh37 11 129755423 129755423 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 13 18 37 0 ENST00000446488.3:c.547G>A p.Glu183Lys p.E183K ENST00000446488 NM_001143835.1 183 Gag/Aag 0 -NID1 UCSF GRCh37 1 236154275 236154275 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 19 35 0 ENST00000264187.6:c.2839C>T p.Leu947Phe p.L947F ENST00000264187 NM_002508.2 947 Ctc/Ttc 0 -NID2 UCSF GRCh37 14 52508869 52508869 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 35 72 0 ENST00000216286.5:c.1779C>T p.Leu593= p.L593= ENST00000216286 NM_007361.3 593 ctC/ctT 0 -NINL UCSF GRCh37 20 25456771 25456771 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 163 75 59 0 ENST00000278886.6:c.3156G>A p.Glu1052= p.E1052= ENST00000278886 NM_025176.4 1052 gaG/gaA 0 -NIPAL3 UCSF GRCh37 1 24776049 24776049 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 30 42 0 ENST00000374399.4:c.473G>A p.Ser158Asn p.S158N ENST00000374399 NM_020448.4 158 aGt/aAt 0 -NLRP1 UCSF GRCh37 17 5425059 5425059 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 23 33 0 ENST00000572272.1:c.3568G>A p.Glu1190Lys p.E1190K ENST00000572272 1190 Gag/Aag 0 -NLRP5 UCSF GRCh37 19 56530765 56530765 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 81 154 0 ENST00000390649.3:c.622+1G>A p.X208_splice ENST00000390649 NM_153447.4 0 -NMT2 UCSF GRCh37 10 15151773 15151773 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 111 53 95 0 ENST00000378165.4:c.1404G>A p.Lys468= p.K468= ENST00000378165 NM_004808.2 468 aaG/aaA 0 -NOB1 UCSF GRCh37 16 69782883 69782883 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 23 30 0 ENST00000268802.5:c.664G>A p.Glu222Lys p.E222K ENST00000268802 NM_014062.2 222 Gag/Aag 0 -NOD1 UCSF GRCh37 7 30475661 30475661 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 98 27 16 0 ENST00000222823.4:c.2574G>A p.Lys858= p.K858= ENST00000222823 NM_006092.2 858 aaG/aaA 0 -NOL9 UCSF GRCh37 1 6585951 6585951 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 140 73 158 0 ENST00000377705.5:c.2072C>T p.Pro691Leu p.P691L ENST00000377705 NM_024654.4 691 cCa/cTa 0 -NOMO2 UCSF GRCh37 16 18544496 18544496 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 228 46 234 0 ENST00000381474.3:c.1226G>A p.Ser409Asn p.S409N ENST00000381474 NM_001004060.1 409 aGt/aAt 0 -NOS1 UCSF GRCh37 12 117693804 117693804 + intron_variant Intron SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 25 57 0 ENST00000317775.6:c.2532-2245C>T *844* ENST00000317775 NM_000620.4 0 -NOS2 UCSF GRCh37 17 26093596 26093596 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 106 73 124 0 ENST00000313735.6:c.2186C>T p.Ala729Val p.A729V ENST00000313735 NM_000625.4 729 gCc/gTc 0 -NOTCH2 UCSF GRCh37 1 120612013 120612013 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.013 P05_Rec Untested WXS Illumina HiSeq 45 9 9 0 ENST00000256646.2:c.8C>T p.Ala3Val p.A3V ENST00000256646 NM_024408.3 3 gCc/gTc 0 -NOTCH2 UCSF GRCh37 1 120612014 120612014 + missense_variant Missense_Mutation SNP C C A 1000g2010nov_all_0.013 P05_Rec Untested WXS Illumina HiSeq 45 9 10 0 ENST00000256646.2:c.7G>T p.Ala3Ser p.A3S ENST00000256646 NM_024408.3 3 Gcc/Tcc 0 -NOTCH2 UCSF GRCh37 1 120512351 120512351 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 51 28 47 0 ENST00000256646.2:c.891G>A p.Glu297= p.E297= ENST00000256646 NM_024408.3 297 gaG/gaA 0 -NOTCH4 UCSF GRCh37 6 32168963 32168963 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 39 39 0 ENST00000375023.3:c.4070C>T p.Pro1357Leu p.P1357L ENST00000375023 NM_004557.3 1357 cCc/cTc 0 -NOXA1 UCSF GRCh37 9 140328695 140328695 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 189 60 31 0 ENST00000341349.2:c.1335G>A p.Glu445= p.E445= ENST00000341349 NM_001256067.1 445 gaG/gaA 0 -NPAT UCSF GRCh37 11 108040739 108040739 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 66 111 0 ENST00000278612.8:c.2817G>A p.Gln939= p.Q939= ENST00000278612 NM_002519.2 939 caG/caA 0 -NPHP3 UCSF GRCh37 3 132418210 132418210 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 28 7 21 0 ENST00000337331.5:c.1972C>T p.Pro658Ser p.P658S ENST00000337331 NM_153240.4 658 Cct/Tct 0 -NPHP4 UCSF GRCh37 1 5940222 5940222 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 54 81 0 ENST00000378156.4:c.2563G>A p.Ala855Thr p.A855T ENST00000378156 NM_015102.3 855 Gcc/Acc 0 -NPHS1 UCSF GRCh37 19 36333406 36333406 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 45 37 0 ENST00000378910.5:c.2381C>T p.Ser794Phe p.S794F ENST00000378910 NM_004646.3 794 tCc/tTc 0 -NQO2 UCSF GRCh37 6 3015855 3015855 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 29 14 32 0 ENST00000338130.2:c.395T>C p.Phe132Ser p.F132S ENST00000338130 132 tTc/tCc 0 -NR1H2 UCSF GRCh37 19 50882000 50882000 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 60 38 0 ENST00000253727.5:c.694G>A p.Ala232Thr p.A232T ENST00000253727 NM_007121.5 232 Gcg/Acg 0 -NR1H4 UCSF GRCh37 12 100957206 100957206 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 81 45 87 0 ENST00000551379.1:c.1400C>T p.Ser467Leu p.S467L ENST00000551379 467 tCa/tTa 0 -NR2C1 UCSF GRCh37 12 95456424 95456424 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 38 20 38 0 ENST00000333003.5:c.145C>G p.His49Asp p.H49D ENST00000333003 NM_003297.3 49 Cac/Gac 0 -NR2C1 UCSF GRCh37 12 95456371 95456371 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0014 P05_Rec Untested WXS Illumina HiSeq 28 17 30 0 ENST00000333003.5:c.198G>A p.Pro66= p.P66= ENST00000333003 NM_003297.3 66 ccG/ccA 0 -NRG1 UCSF GRCh37 8 32453351 32453351 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 44 81 0 ENST00000405005.3:c.106C>T p.Pro36Ser p.P36S ENST00000405005 36 Cct/Tct 0 -NRL UCSF GRCh37 14 24551985 24551985 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 21 23 0 ENST00000396997.1:c.73C>T p.Arg25Trp p.R25W ENST00000396997 25 Cgg/Tgg 0 -NRSN1 UCSF GRCh37 6 24145818 24145818 + downstream_gene_variant 3'Flank SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 82 54 95 0 ENST00000378478 0 -NRXN3 UCSF GRCh37 14 79117661 79117661 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 101 77 145 0 ENST00000554719.1:c.94C>T p.Leu32Phe p.L32F ENST00000554719 NM_004796.5 32 Ctt/Ttt 0 -NSMAF UCSF GRCh37 8 59496711 59496711 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 37 97 0 ENST00000038176.3:c.2708C>T p.Thr903Ile p.T903I ENST00000038176 NM_003580.3 903 aCa/aTa 0 -NTRK3 UCSF GRCh37 15 88679226 88679226 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 41 73 0 ENST00000360948.2:c.811G>A p.Val271Met p.V271M ENST00000360948 NM_001012338.2 271 Gtg/Atg 0 -NUDC UCSF GRCh37 1 27272131 27272131 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 36 110 0 ENST00000321265.5:c.898G>A p.Gly300Arg p.G300R ENST00000321265 NM_006600.3 300 Ggg/Agg 0 -NUDCD2 UCSF GRCh37 5 162886898 162886898 + synonymous_variant Silent SNP C C A NOVEL P05_Rec Untested WXS Illumina HiSeq 95 15 29 1 ENST00000302764.4:c.159G>T p.Ala53= p.A53= ENST00000302764 NM_145266.4 53 gcG/gcT 0 -NUDCD3 UCSF GRCh37 7 44467172 44467172 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 19 51 0 ENST00000355451.7:c.640C>T p.Gln214Ter p.Q214* ENST00000355451 NM_015332.3 214 Cag/Tag 0 -NUMB UCSF GRCh37 14 73750891 73750891 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 59 92 0 ENST00000355058.3:c.847C>T p.Leu283Phe p.L283F ENST00000355058 283 Ctt/Ttt 0 -NUP188 UCSF GRCh37 9 131735512 131735512 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 17 29 0 ENST00000372577.2:c.1187C>T p.Thr396Ile p.T396I ENST00000372577 NM_015354.2 396 aCc/aTc 0 -NUP210 UCSF GRCh37 3 13393458 13393458 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 72 19 56 0 ENST00000254508.5:c.2756G>A p.Gly919Asp p.G919D ENST00000254508 NM_024923.3 919 gGc/gAc 0 -NUP210 UCSF GRCh37 3 13401975 13401975 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 12 22 0 ENST00000254508.5:c.1949C>T p.Ser650Phe p.S650F ENST00000254508 NM_024923.3 650 tCt/tTt 0 -NUP93 UCSF GRCh37 16 56878490 56878490 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 18 40 0 ENST00000308159.5:c.2429G>A p.Arg810Lys p.R810K ENST00000308159 NM_014669.4 810 aGg/aAg 0 -NUPL1 UCSF GRCh37 13 25905498 25905498 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 41 58 0 ENST00000381736.3:c.1237C>T p.Leu413= p.L413= ENST00000381736 NM_014089.3 413 Ctg/Ttg 0 -NXF3 UCSF GRCh37 X 102337686 102337686 + splice_donor_variant Splice_Site SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 58 34 112 0 ENST00000395065.3:c.780+2T>G p.X260_splice ENST00000395065 NM_022052.1 0 -OAS1 UCSF GRCh37 12 113349034 113349034 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0015 P05_Rec Untested WXS Illumina HiSeq 70 29 75 0 ENST00000202917.5:c.648C>T p.Tyr216= p.Y216= ENST00000202917 NM_016816.2 216 taC/taT 0 -OAS2 UCSF GRCh37 12 113436196 113436196 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 149 43 109 0 ENST00000342315.4:c.989C>T p.Ala330Val p.A330V ENST00000342315 NM_016817.2 330 gCa/gTa 0 -OASL UCSF GRCh37 12 121458523 121458523 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 38 68 0 ENST00000257570.5:c.1386G>A p.Gln462= p.Q462= ENST00000257570 NM_003733.3 462 caG/caA 0 -OBSCN UCSF GRCh37 1 228476566 228476566 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 57 67 0 ENST00000422127.1:c.10316C>T p.Thr3439Ile p.T3439I ENST00000422127 NM_001098623.2 3439 aCc/aTc 0 -OBSCN UCSF GRCh37 1 228403510 228403510 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 24 23 0 ENST00000422127.1:c.2075G>A p.Ser692Asn p.S692N ENST00000422127 NM_001098623.2 692 aGc/aAc 0 -OBSCN UCSF GRCh37 1 228497197 228497197 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 44 75 0 ENST00000422127.1:c.12949G>A p.Asp4317Asn p.D4317N ENST00000422127 NM_001098623.2 4317 Gat/Aat 0 -OBSCN UCSF GRCh37 1 228481893 228481893 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 155 102 130 0 ENST00000422127.1:c.11172G>A p.Glu3724= p.E3724= ENST00000422127 NM_001098623.2 3724 gaG/gaA 0 -ODF2 UCSF GRCh37 9 131262353 131262353 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 101 40 58 0 ENST00000434106.3:c.2309G>A p.Arg770His p.R770H ENST00000434106 NM_153433.1 770 cGc/cAc 0 -ODZ2 UCSF GRCh37 5 167420045 167420045 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0034 P05_Rec Untested WXS Illumina HiSeq 37 60 98 0 ENST00000518659.1:c.1044G>A p.Pro348= p.P348= ENST00000518659 NM_001122679.1 348 ccG/ccA 0 -ODZ4 UCSF GRCh37 11 78413374 78413374 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 131 117 150 0 ENST00000278550.7:c.4284G>A p.Val1428= p.V1428= ENST00000278550 NM_001098816.2 1428 gtG/gtA 0 -OGFR UCSF GRCh37 20 61444600 61444600 + missense_variant Missense_Mutation SNP C C A 1000g2010nov_all_0.039,1000g2011may_all_0.0976,snp132_rs6122313 P05_Rec Untested WXS Illumina HiSeq 25 7 10 0 ENST00000290291.6:c.1633C>A p.Arg545Ser p.R545S ENST00000290291 NM_007346.2 545 Cgc/Agc 0 -OLFM1 UCSF GRCh37 9 137987827 137987827 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 106 35 44 0 ENST00000371793.3:c.418G>A p.Glu140Lys p.E140K ENST00000371793 NM_001282611.1 140 Gag/Aag 0 -OLFM4 UCSF GRCh37 13 53624333 53624333 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 66 115 0 ENST00000219022.2:c.960G>A p.Glu320= p.E320= ENST00000219022 NM_006418.4 320 gaG/gaA 0 -OPRM1 UCSF GRCh37 6 154360645 154360645 + 5_prime_UTR_variant 5'UTR SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 13 14 0 ENST00000330432.7:c.-35C>T *12* ENST00000330432 NM_000914.3 0 -OPTN UCSF GRCh37 10 13169851 13169851 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 45 92 0 ENST00000263036.5:c.1349C>T p.Thr450Ile p.T450I ENST00000263036 450 aCc/aTc 0 -OR10AG1 UCSF GRCh37 11 55735468 55735468 + missense_variant Missense_Mutation SNP G G A snp132_rs77704611 P05_Rec Untested WXS Illumina HiSeq 40 35 61 0 ENST00000312345.2:c.472C>T p.Pro158Ser p.P158S ENST00000312345 NM_001005491.1 158 Ccc/Tcc 0 -OR10G9 UCSF GRCh37 11 123894533 123894533 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 60 114 0 ENST00000375024.1:c.814G>A p.Ala272Thr p.A272T ENST00000375024 NM_001001953.1 272 Gcc/Acc 0 -OR10J3 UCSF GRCh37 1 159283715 159283715 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 63 105 0 ENST00000332217.5:c.735C>T p.His245= p.H245= ENST00000332217 NM_001004467.1 245 caC/caT 0 -OR10T2 UCSF GRCh37 1 158368825 158368825 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 36 114 0 ENST00000334438.1:c.432G>A p.Glu144= p.E144= ENST00000334438 NM_001004475.1 144 gaG/gaA 0 -OR1E2 UCSF GRCh37 17 3336691 3336691 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 43 30 55 0 ENST00000248384.1:c.445C>G p.Leu149Val p.L149V ENST00000248384 NM_003554.1 149 Ctc/Gtc 0 -OR1L8 UCSF GRCh37 9 125329947 125329947 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 25 80 0 ENST00000304865.2:c.810G>A p.Lys270= p.K270= ENST00000304865 NM_001004454.1 270 aaG/aaA 0 -OR2A25 UCSF GRCh37 7 143771842 143771842 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 223 80 170 0 ENST00000408898.2:c.530T>G p.Phe177Cys p.F177C ENST00000408898 NM_001004488.1 177 tTc/tGc 0 -OR2C1 UCSF GRCh37 16 3406567 3406567 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 46 74 0 ENST00000304936.2:c.627C>T p.Val209= p.V209= ENST00000304936 NM_012368.2 209 gtC/gtT 0 -OR56A5 UCSF GRCh37 11 5989353 5989353 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 66 179 0 ENST00000532411.1:n.372C>T *124* ENST00000532411 0 -OR5V1 UCSF GRCh37 6 29323969 29323969 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 69 29 42 0 ENST00000377154.1:c.4G>A p.Glu2Lys p.E2K ENST00000377154 2 Gaa/Aaa 0 -OR6V1 UCSF GRCh37 7 142749760 142749760 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 156 55 107 0 ENST00000418316.1:c.323C>T p.Thr108Ile p.T108I ENST00000418316 NM_001001667.1 108 aCc/aTc 0 -OR7A5 UCSF GRCh37 19 14938928 14938928 + synonymous_variant Silent SNP G G A snp132_rs76014757 P05_Rec Untested WXS Illumina HiSeq 133 83 141 0 ENST00000322301.3:c.126C>T p.Asn42= p.N42= ENST00000322301 42 aaC/aaT 0 -OR7G1 UCSF GRCh37 19 9226037 9226037 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 97 64 171 0 ENST00000541538.1:c.403C>T p.Leu135Phe p.L135F ENST00000541538 NM_001005192.2 135 Ctc/Ttc 0 -OR8H1 UCSF GRCh37 11 56057643 56057643 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 137 77 133 0 ENST00000313022.2:c.896C>T p.Ala299Val p.A299V ENST00000313022 NM_001005199.1 299 gCt/gTt 0 -OSBPL10 UCSF GRCh37 3 31725542 31725542 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 31 37 0 ENST00000396556.2:c.1310C>T p.Ala437Val p.A437V ENST00000396556 NM_017784.4 437 gCg/gTg 0 -OSBPL11 UCSF GRCh37 3 125271277 125271277 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 45 68 0 ENST00000296220.5:c.1402G>A p.Val468Ile p.V468I ENST00000296220 NM_022776.4 468 Gta/Ata 0 -OSBPL5 UCSF GRCh37 11 3111847 3111847 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 17 27 16 0 ENST00000263650.7:c.2339C>T p.Ser780Phe p.S780F ENST00000263650 NM_020896.3 780 tCc/tTc 0 -OTUD4 UCSF GRCh37 4 146077122 146077122 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 19 28 38 0 ENST00000447906.2:c.656A>C p.Asp219Ala p.D219A ENST00000447906 219 gAt/gCt 0 -OTUD7A UCSF GRCh37 15 31862393 31862393 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 36 36 0 ENST00000307050.4:c.159C>T p.Asn53= p.N53= ENST00000307050 NM_130901.1 53 aaC/aaT 0 -OXA1L UCSF GRCh37 14 23235862 23235862 + synonymous_variant Silent SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 128 82 93 0 ENST00000285848.5:c.132T>C p.Gly44= p.G44= ENST00000285848 NM_005015.3 44 ggT/ggC 0 -PADI2 UCSF GRCh37 1 17413169 17413169 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 35 45 0 ENST00000375486.4:c.681C>T p.Ile227= p.I227= ENST00000375486 NM_007365.2 227 atC/atT 0 -PADI6 UCSF GRCh37 1 17727751 17727751 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 34 62 0 ENST00000434762.2:n.1953G>A *651* ENST00000434762 0 -PALMD UCSF GRCh37 1 100155175 100155175 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 23 61 0 ENST00000263174.4:c.1359G>A p.Glu453= p.E453= ENST00000263174 NM_017734.4 453 gaG/gaA 0 -PANK1 UCSF GRCh37 10 91348448 91348448 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 24 37 56 0 ENST00000307534.4:c.1698G>A p.Trp566Ter p.W566* ENST00000307534 NM_148977.2 566 tgG/tgA 0 -PANK4 UCSF GRCh37 1 2452632 2452632 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 156 75 73 0 ENST00000378466.3:c.330C>T p.Asp110= p.D110= ENST00000378466 NM_018216.1 110 gaC/gaT 0 -PAPLN UCSF GRCh37 14 73733540 73733540 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 9 9 0 ENST00000554301.1:c.3500+1G>A p.X1167_splice ENST00000554301 0 -PAPPA2 UCSF GRCh37 1 176661375 176661375 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 122 76 121 0 ENST00000367662.3:c.2545C>T p.Pro849Ser p.P849S ENST00000367662 NM_020318.2 849 Cca/Tca 0 -PAPPA2 UCSF GRCh37 1 176708825 176708825 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 43 26 42 0 ENST00000367662.3:c.3862G>C p.Val1288Leu p.V1288L ENST00000367662 NM_020318.2 1288 Gtt/Ctt 0 -PARP1 UCSF GRCh37 1 226579986 226579986 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 154 92 143 0 ENST00000366794.5:c.316G>A p.Ala106Thr p.A106T ENST00000366794 NM_001618.3 106 Gca/Aca 0 -PARVG UCSF GRCh37 22 44585128 44585128 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 33 12 0 ENST00000422871.1:c.382G>A p.Val128Met p.V128M ENST00000422871 NM_001137605.2 128 Gtg/Atg 0 -PAXIP1 UCSF GRCh37 7 154755379 154755379 + splice_donor_variant Splice_Site SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 48 15 39 0 ENST00000397192.1:c.1989+2T>C p.X663_splice ENST00000397192 NM_007349.3 0 -PCDH15 UCSF GRCh37 10 56138586 56138586 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 64 109 0 ENST00000320301.6:c.274C>T p.Gln92Ter p.Q92* ENST00000320301 NM_033056.3 92 Caa/Taa 0 -PCDH20 UCSF GRCh37 13 61986537 61986537 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 50 89 0 ENST00000409186.1:c.1695G>A p.Glu565= p.E565= ENST00000409186 565 gaG/gaA 0 -PCDHA13 UCSF GRCh37 5 140263138 140263138 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 168 103 0 ENST00000289272.2:c.1285G>A p.Asp429Asn p.D429N ENST00000289272 NM_018904.2 429 Gac/Aac 0 -PCDHA13 UCSF GRCh37 5 140263738 140263738 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 126 51 0 ENST00000289272.2:c.1885G>A p.Gly629Ser p.G629S ENST00000289272 NM_018904.2 629 Ggc/Agc 0 -PCDHB15 UCSF GRCh37 5 140626910 140626910 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 95 44 0 ENST00000231173.3:c.1764G>A p.Lys588= p.K588= ENST00000231173 NM_018935.2 588 aaG/aaA 0 -PCDHB16 UCSF GRCh37 5 140563711 140563711 + missense_variant Missense_Mutation SNP A A C 1000g2011may_all_0.0597,snp132_rs17844652 P05_Rec Untested WXS Illumina HiSeq 41 8 49 1 ENST00000361016.2:c.1577A>C p.Glu526Ala p.E526A ENST00000361016 NM_020957.1 526 gAg/gCg 0 -PCDHB16 UCSF GRCh37 5 140563712 140563712 + missense_variant Missense_Mutation SNP G G T 1000g2011may_all_0.0455,snp132_rs17844653 P05_Rec Untested WXS Illumina HiSeq 41 8 52 1 ENST00000361016.2:c.1578G>T p.Glu526Asp p.E526D ENST00000361016 NM_020957.1 526 gaG/gaT 0 -PCDHGB2 UCSF GRCh37 5 140739819 140739819 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 40 68 0 ENST00000522605.1:c.117G>A p.Glu39= p.E39= ENST00000522605 NM_018923.2 39 gaG/gaA 0 -PCF11 UCSF GRCh37 11 82877001 82877001 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 147 88 97 0 ENST00000298281.4:c.1062G>A p.Lys354= p.K354= ENST00000298281 NM_015885.3 354 aaG/aaA 0 -PCLO UCSF GRCh37 7 82579344 82579344 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 248 87 181 0 ENST00000333891.9:c.10560G>A p.Thr3520= p.T3520= ENST00000333891 NM_033026.5 3520 acG/acA 0 -PCNT UCSF GRCh37 21 47786908 47786908 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 218 132 125 0 ENST00000359568.5:c.3019C>T p.Leu1007Phe p.L1007F ENST00000359568 NM_006031.5 1007 Ctt/Ttt 0 -PCNT UCSF GRCh37 21 47862463 47862463 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 31 15 0 ENST00000359568.5:c.9677C>T p.Ala3226Val p.A3226V ENST00000359568 NM_006031.5 3226 gCa/gTa 0 -PCNT UCSF GRCh37 21 47860958 47860958 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0014,snp132_rs78524660 P05_Rec Untested WXS Illumina HiSeq 80 40 49 0 ENST00000359568.5:c.9584G>A p.Arg3195Lys p.R3195K ENST00000359568 NM_006031.5 3195 aGg/aAg 0 -PCNXL2 UCSF GRCh37 1 233134083 233134083 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 30 37 0 ENST00000258229.9:c.5705G>A p.Gly1902Asp p.G1902D ENST00000258229 NM_014801.3 1902 gGt/gAt 0 -PCOLCE UCSF GRCh37 7 100205689 100205689 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 28 57 0 ENST00000223061.5:c.1313C>T p.Pro438Leu p.P438L ENST00000223061 NM_002593.3 438 cCc/cTc 0 -PCOLCE2 UCSF GRCh37 3 142606618 142606618 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 29 38 0 ENST00000295992.3:c.85C>T p.Pro29Ser p.P29S ENST00000295992 NM_013363.3 29 Cct/Tct 0 -PCSK9 UCSF GRCh37 1 55524305 55524305 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 19 23 0 ENST00000302118.5:c.1488G>A p.Arg496= p.R496= ENST00000302118 NM_174936.3 496 cgG/cgA 0 -PDCD11 UCSF GRCh37 10 105178277 105178277 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 44 57 0 ENST00000369797.3:c.1992C>T p.Leu664= p.L664= ENST00000369797 NM_014976.1 664 ctC/ctT 0 -PDE1C UCSF GRCh37 7 31912975 31912975 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 16 37 0 ENST00000321453.7:c.539G>A p.Ser180Asn p.S180N ENST00000321453 NM_001191059.1 180 aGt/aAt 0 -PDE4B UCSF GRCh37 1 66384414 66384414 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 38 69 0 ENST00000329654.4:c.177G>A p.Gln59= p.Q59= ENST00000329654 NM_001037341.1 59 caG/caA 0 -PDE4DIP UCSF GRCh37 1 144852379 144852379 + 3_prime_UTR_variant 3'UTR SNP G G T 1000g2010nov_all_0.022,1000g2011may_all_0.05769,snp132_rs113954821 P05_Rec Untested WXS Illumina HiSeq 61 10 35 1 ENST00000369354.3:c.*79C>A *27* ENST00000369354 0 -PDGFRA UCSF GRCh37 4 55156572 55156572 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 179 56 89 0 ENST00000257290.5:c.2973C>T p.Val991= p.V991= ENST00000257290 NM_006206.4 991 gtC/gtT 0 -PDK4 UCSF GRCh37 7 95222149 95222149 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 132 49 100 0 ENST00000005178.5:c.452C>T p.Thr151Ile p.T151I ENST00000005178 NM_002612.3 151 aCc/aTc 0 -PDS5A UCSF GRCh37 4 39904041 39904041 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 37 74 0 ENST00000303538.8:c.1425C>T p.Pro475= p.P475= ENST00000303538 NM_001100399.1 475 ccC/ccT 0 -PDZD7 UCSF GRCh37 10 102770636 102770636 + downstream_gene_variant 3'Flank SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 5 11 9 0 ENST00000370220 0 -PEG10 UCSF GRCh37 7 94293624 94293624 + synonymous_variant Silent SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 171 35 39 0 ENST00000482108.1:c.756G>C p.Ser252= p.S252= ENST00000482108 NM_001172437.1 252 tcG/tcC 0 -PER1 UCSF GRCh37 17 8051124 8051124 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 18 17 0 ENST00000317276.4:c.1256C>T p.Pro419Leu p.P419L ENST00000317276 NM_002616.2 419 cCc/cTc 0 -PER3 UCSF GRCh37 1 7869993 7869993 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 86 32 26 0 ENST00000361923.2:c.1280G>A p.Gly427Glu p.G427E ENST00000361923 NM_016831.1 427 gGg/gAg 0 -PEX1 UCSF GRCh37 7 92131386 92131386 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 231 92 121 0 ENST00000248633.4:c.2234G>A p.Arg745Lys p.R745K ENST00000248633 NM_000466.2 745 aGa/aAa 0 -PFKFB4 UCSF GRCh37 3 48587361 48587361 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 21 49 0 ENST00000232375.3:c.247G>A p.Val83Ile p.V83I ENST00000232375 NM_004567.2 83 Gtc/Atc 0 -PGLYRP2 UCSF GRCh37 19 15587253 15587253 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 35 50 0 ENST00000340880.4:c.228C>T p.Leu76= p.L76= ENST00000340880 NM_052890.3 76 ctC/ctT 0 -PGS1 UCSF GRCh37 17 76399899 76399899 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 92 60 76 0 ENST00000262764.6:c.1131G>A p.Glu377= p.E377= ENST00000262764 NM_024419.3 377 gaG/gaA 0 -PHACTR1 UCSF GRCh37 6 13206076 13206076 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 134 57 87 0 ENST00000332995.7:c.694C>T p.Leu232= p.L232= ENST00000332995 232 Ctg/Ttg 0 -PHC3 UCSF GRCh37 3 169896720 169896720 + 5_prime_UTR_variant 5'UTR SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 192 64 182 0 ENST00000494943.1:c.-16G>A *6* ENST00000494943 0 -PHF2 UCSF GRCh37 9 96418217 96418217 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 18 9 11 0 ENST00000359246.4:c.954C>T p.Gly318= p.G318= ENST00000359246 NM_005392.3 318 ggC/ggT 0 -PHF20 UCSF GRCh37 20 34487567 34487567 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 7 40 0 ENST00000374012.3:c.1558C>T p.Pro520Ser p.P520S ENST00000374012 520 Cca/Tca 0 -PHLDB1 UCSF GRCh37 11 118514893 118514893 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 16 8 0 ENST00000361417.2:c.3121+1G>A p.X1041_splice ENST00000361417 NM_015157.3 0 -PHLPP2 UCSF GRCh37 16 71683592 71683592 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 181 69 52 0 ENST00000568954.1:c.3173C>T p.Thr1058Ile p.T1058I ENST00000568954 1058 aCc/aTc 0 -PI15 UCSF GRCh37 8 75757721 75757721 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 53 102 0 ENST00000260113.2:c.630C>T p.Asn210= p.N210= ENST00000260113 NM_015886.3 210 aaC/aaT 0 -PI4KA UCSF GRCh37 22 21159316 21159316 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 93 62 87 0 ENST00000255882.6:c.1306C>T p.Gln436Ter p.Q436* ENST00000255882 NM_058004.3 436 Cag/Tag 0 -PI4KA UCSF GRCh37 22 21101870 21101870 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 52 28 52 0 ENST00000255882.6:c.3363+1G>A p.X1121_splice ENST00000255882 NM_058004.3 0 -PI4KA UCSF GRCh37 22 21081530 21081530 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 21 24 0 ENST00000255882.6:c.4929G>A p.Arg1643= p.R1643= ENST00000255882 NM_058004.3 1643 cgG/cgA 0 -PIEZO2 UCSF GRCh37 18 10784940 10784940 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 39 83 0 ENST00000503781.3:c.2334C>T p.Gly778= p.G778= ENST00000503781 NM_022068.2 778 ggC/ggT 0 -PIGQ UCSF GRCh37 16 633059 633059 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 115 79 39 0 ENST00000026218.5:c.1708C>T p.Pro570Ser p.P570S ENST00000026218 NM_148920.2 570 Cca/Tca 0 -PIGR UCSF GRCh37 1 207107863 207107863 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 29 42 0 ENST00000356495.4:c.1607G>A p.Arg536Lys p.R536K ENST00000356495 NM_002644.3 536 aGg/aAg 0 -PIK3CB UCSF GRCh37 3 138433487 138433487 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 80 99 0 ENST00000289153.2:c.1125G>A p.Gly375= p.G375= ENST00000289153 NM_006219.2 375 ggG/ggA 0 -PIK3IP1 UCSF GRCh37 22 31688292 31688292 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 26 67 0 ENST00000215912.5:c.39C>T p.Asn13= p.N13= ENST00000215912 NM_052880.4 13 aaC/aaT 0 -PIK3R1 UCSF GRCh37 5 67591123 67591123 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 55 110 0 ENST00000521381.1:c.1716G>A p.Gln572= p.Q572= ENST00000521381 NM_181523.2 572 caG/caA 0 -PIN4 UCSF GRCh37 X 71401585 71401585 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 10 19 0 ENST00000373669.2:c.25G>A p.Gly9Arg p.G9R ENST00000373669 NM_006223.3 9 Ggg/Agg 0 -PION UCSF GRCh37 7 76984937 76984937 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 124 29 71 0 ENST00000257626.7:c.1055G>A p.Gly352Asp p.G352D ENST00000257626 NM_017439.3 352 gGt/gAt 0 -PIP5KL1 UCSF GRCh37 9 130692077 130692077 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 6 9 0 ENST00000388747.4:c.118C>T p.Arg40Cys p.R40C ENST00000388747 NM_001135219.1 40 Cgc/Tgc 0 -PITPNA UCSF GRCh37 17 1438748 1438748 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 117 56 115 0 ENST00000313486.7:c.521G>A p.Gly174Asp p.G174D ENST00000313486 NM_006224.3 174 gGc/gAc 0 -PIWIL1 UCSF GRCh37 12 130839435 130839435 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 104 30 114 0 ENST00000245255.3:c.1174C>T p.Leu392= p.L392= ENST00000245255 NM_004764.4 392 Cta/Tta 0 -PIWIL3 UCSF GRCh37 22 25115836 25115836 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 11 48 0 ENST00000332271.5:c.2411C>T p.Ser804Phe p.S804F ENST00000332271 NM_001255975.1 804 tCt/tTt 0 -PKD1 UCSF GRCh37 16 2155909 2155909 + missense_variant Missense_Mutation SNP T T A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 14 12 0 ENST00000262304.4:c.7820A>T p.His2607Leu p.H2607L ENST00000262304 NM_001009944.2 2607 cAc/cTc 0 -PKD1 UCSF GRCh37 16 2160968 2160968 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 54 26 0 ENST00000262304.4:c.4200G>A p.Leu1400= p.L1400= ENST00000262304 NM_001009944.2 1400 ctG/ctA 0 -PKD1L1 UCSF GRCh37 7 47920325 47920325 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 17 61 0 ENST00000289672.2:c.3520+1G>A p.X1174_splice ENST00000289672 NM_138295.3 0 -PKD1L1 UCSF GRCh37 7 47874767 47874767 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 39 14 16 0 ENST00000289672.2:c.6018G>A p.Gly2006= p.G2006= ENST00000289672 NM_138295.3 2006 ggG/ggA 0 -PKD1L1 UCSF GRCh37 7 47968988 47968988 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 141 54 100 0 ENST00000289672.2:c.873C>T p.Asn291= p.N291= ENST00000289672 NM_138295.3 291 aaC/aaT 0 -PKD1L3 UCSF GRCh37 16 71976564 71976564 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 154 46 112 0 ENST00000534738.1:n.4219G>A *1407* ENST00000534738 0 -PKDREJ UCSF GRCh37 22 46657443 46657443 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 35 69 0 ENST00000253255.5:c.1777C>T p.Pro593Ser p.P593S ENST00000253255 NM_006071.1 593 Cct/Tct 0 -PKP1 UCSF GRCh37 1 201293710 201293710 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 23 12 27 0 ENST00000263946.3:c.1897+1G>A p.X633_splice ENST00000263946 NM_000299.3 0 -PLA1A UCSF GRCh37 3 119316765 119316765 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 16 4 13 0 ENST00000273371.4:c.5C>T p.Pro2Leu p.P2L ENST00000273371 NM_015900.3 2 cCc/cTc 0 -PLA2R1 UCSF GRCh37 2 160801461 160801461 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 45 77 0 ENST00000283243.7:c.4100C>T p.Ser1367Phe p.S1367F ENST00000283243 NM_001195641.1 1367 tCc/tTc 0 -PLA2R1 UCSF GRCh37 2 160806163 160806163 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 42 71 0 ENST00000283243.7:c.3665C>T p.Ala1222Val p.A1222V ENST00000283243 NM_001195641.1 1222 gCc/gTc 0 -PLCE1 UCSF GRCh37 10 96033478 96033478 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 16 26 69 0 ENST00000260766.3:c.4665+1G>A p.X1555_splice ENST00000260766 NM_016341.3 0 -PLCG1 UCSF GRCh37 20 39792412 39792412 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 70 102 0 ENST00000373271.1:c.949G>A p.Val317Ile p.V317I ENST00000373271 NM_182811.1 317 Gta/Ata 0 -PLCG1 UCSF GRCh37 20 39798167 39798167 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 46 62 0 ENST00000373271.1:c.2650+1G>A p.X884_splice ENST00000373271 NM_182811.1 0 -PLCH1 UCSF GRCh37 3 155271904 155271904 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 50 15 62 0 ENST00000340059.7:c.1115T>G p.Val372Gly p.V372G ENST00000340059 NM_001130960.1 372 gTt/gGt 0 -PLCL1 UCSF GRCh37 2 198950221 198950221 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 55 45 59 0 ENST00000428675.1:c.1980G>A p.Trp660Ter p.W660* ENST00000428675 NM_006226.3 660 tgG/tgA 0 -PLCL2 UCSF GRCh37 3 17051631 17051631 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 75 77 0 ENST00000418129.2:c.415G>A p.Asp139Asn p.D139N ENST00000418129 NM_001144382.1 139 Gat/Aat 0 -PLCL2 UCSF GRCh37 3 17053574 17053574 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 153 32 73 0 ENST00000418129.2:c.2358G>A p.Trp786Ter p.W786* ENST00000418129 NM_001144382.1 786 tgG/tgA 0 -PLD2 UCSF GRCh37 17 4712455 4712455 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 43 57 0 ENST00000263088.6:c.444C>T p.Pro148= p.P148= ENST00000263088 NM_001243108.1 148 ccC/ccT 0 -PLEKHG1 UCSF GRCh37 6 151152103 151152103 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 43 92 0 ENST00000358517.2:c.1856C>T p.Pro619Leu p.P619L ENST00000358517 619 cCt/cTt 0 -PLEKHH3 UCSF GRCh37 17 40822682 40822682 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 39 28 0 ENST00000591022.1:c.1463C>T p.Ser488Phe p.S488F ENST00000591022 NM_024927.4 488 tCc/tTc 0 -PLEKHM1 UCSF GRCh37 17 43530914 43530914 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 87 36 77 0 ENST00000430334.3:c.2304G>A p.Trp768Ter p.W768* ENST00000430334 NM_014798.2 768 tgG/tgA 0 -PLEKHM3 UCSF GRCh37 2 208842115 208842115 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 48 102 0 ENST00000427836.2:c.806G>A p.Gly269Asp p.G269D ENST00000427836 NM_001080475.2 269 gGc/gAc 0 -PLEKHM3 UCSF GRCh37 2 208693094 208693094 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 55 96 0 ENST00000427836.2:c.2235G>A p.Glu745= p.E745= ENST00000427836 NM_001080475.2 745 gaG/gaA 0 -PLEKHN1 UCSF GRCh37 1 909744 909744 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 34 30 0 ENST00000379409.2:c.1858G>A p.Asp620Asn p.D620N ENST00000379409 620 Gat/Aat 0 -PLEKHO2 UCSF GRCh37 15 65140927 65140927 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 50 75 0 ENST00000323544.4:c.148G>A p.Val50Ile p.V50I ENST00000323544 NM_025201.4 50 Gtc/Atc 0 -PLG UCSF GRCh37 6 161128732 161128732 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 150 66 177 0 ENST00000308192.9:c.186G>A p.Arg62= p.R62= ENST00000308192 NM_000301.3 62 agG/agA 0 -PLIN4 UCSF GRCh37 19 4511827 4511827 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 682 132 341 0 ENST00000301286.3:c.2103C>T p.Val701= p.V701= ENST00000301286 NM_001080400.1 701 gtC/gtT 0 -PLK1S1 UCSF GRCh37 20 21209665 21209665 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 53 89 0 ENST00000457464.1:n.1292G>A *431* ENST00000457464 0 -PLOD2 UCSF GRCh37 3 145788564 145788564 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 41 12 35 0 ENST00000360060.3:c.2154T>G p.His718Gln p.H718Q ENST00000360060 NM_000935.2 718 caT/caG 0 -PLP1 UCSF GRCh37 X 103042780 103042780 + stop_gained Nonsense_Mutation SNP C C A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 65 78 0 ENST00000418604.1:c.507C>A p.Cys169Ter p.C169* ENST00000418604 NM_001128834.1 169 tgC/tgA 0 -PLS3 UCSF GRCh37 X 114882259 114882259 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 61 98 1 ENST00000355899.3:c.1682C>T p.Ala561Val p.A561V ENST00000355899 NM_005032.5 561 gCc/gTc 0 -PLSCR4 UCSF GRCh37 3 145924354 145924354 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 31 80 0 ENST00000354952.2:c.313C>T p.Pro105Ser p.P105S ENST00000354952 NM_020353.2 105 Cct/Tct 0 -PLXNB2 UCSF GRCh37 22 50724666 50724666 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0034 P05_Rec Untested WXS Illumina HiSeq 33 68 50 0 ENST00000359337.4:c.1813C>T p.Leu605Phe p.L605F ENST00000359337 NM_012401.3 605 Ctc/Ttc 0 -PMAIP1 UCSF GRCh37 18 57569967 57569967 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 72 53 85 0 ENST00000316660.6:c.147C>T p.Leu49= p.L49= ENST00000316660 NM_021127.2 49 ctC/ctT 0 -PMEL UCSF GRCh37 12 56348011 56348011 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 37 62 0 ENST00000548493.1:c.1973G>A p.Gly658Glu p.G658E ENST00000548493 658 gGg/gAg 0 -PNO1 UCSF GRCh37 2 68385661 68385661 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 41 62 0 ENST00000263657.2:c.357G>A p.Arg119= p.R119= ENST00000263657 NM_020143.2 119 agG/agA 0 -PNPLA6 UCSF GRCh37 19 7623800 7623800 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 30 14 0 ENST00000414982.3:c.3492G>A p.Glu1164= p.E1164= ENST00000414982 NM_001166111.1 1164 gaG/gaA 0 -PNPLA7 UCSF GRCh37 9 140416145 140416145 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 79 32 43 0 ENST00000277531.4:c.825G>A p.Arg275= p.R275= ENST00000277531 NM_152286.3 275 agG/agA 0 -PNPLA8 UCSF GRCh37 7 108155515 108155515 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 183 53 35 0 ENST00000257694.8:c.421G>A p.Asp141Asn p.D141N ENST00000257694 NM_001256007.1 141 Gat/Aat 0 -PNPT1 UCSF GRCh37 2 55912183 55912183 + missense_variant,splice_region_variant,NMD_transcript_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 25 41 0 ENST00000415374.1:c.298G>A p.Val100Ile p.V100I ENST00000415374 100 Gtt/Att 0 -PODN UCSF GRCh37 1 53542970 53542970 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 91 67 0 ENST00000312553.5:c.834C>T p.Arg278= p.R278= ENST00000312553 NM_001199081.1 278 cgC/cgT 0 -POF1B UCSF GRCh37 X 84600880 84600880 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 107 58 119 0 ENST00000262753.4:c.709C>T p.Gln237Ter p.Q237* ENST00000262753 NM_024921.3 237 Cag/Tag 0 -POFUT2 UCSF GRCh37 21 46705667 46705667 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 36 85 0 ENST00000349485.5:c.308C>T p.Pro103Leu p.P103L ENST00000349485 NM_133635.4 103 cCc/cTc 0 -POGZ UCSF GRCh37 1 151384149 151384149 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 19 74 0 ENST00000271715.2:c.1878G>A p.Lys626= p.K626= ENST00000271715 NM_015100.3 626 aaG/aaA 0 -POLD2 UCSF GRCh37 7 44157619 44157619 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 24 48 0 ENST00000406581.2:c.265G>A p.Glu89Lys p.E89K ENST00000406581 NM_001256879.1 89 Gag/Aag 0 -POLD2 UCSF GRCh37 7 44154928 44154928 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 126 33 56 0 ENST00000406581.2:c.1215C>T p.Gly405= p.G405= ENST00000406581 NM_001256879.1 405 ggC/ggT 0 -POLH UCSF GRCh37 6 43581825 43581825 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 52 98 0 ENST00000372236.4:c.1673C>T p.Ser558Phe p.S558F ENST00000372236 NM_006502.2 558 tCc/tTc 0 -POLK UCSF GRCh37 5 74892054 74892054 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 49 58 0 ENST00000241436.4:c.1536G>A p.Arg512= p.R512= ENST00000241436 NM_016218.2 512 cgG/cgA 0 -POLQ UCSF GRCh37 3 121208155 121208155 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 170 54 173 0 ENST00000264233.5:c.3623C>T p.Thr1208Ile p.T1208I ENST00000264233 NM_199420.3 1208 aCc/aTc 0 -POLR1B UCSF GRCh37 2 113308465 113308465 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 68 91 0 ENST00000263331.5:c.648G>A p.Arg216= p.R216= ENST00000263331 NM_019014.4 216 agG/agA 0 -POLR3G UCSF GRCh37 5 89781475 89781475 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 56 101 0 ENST00000399107.1:c.91G>A p.Val31Met p.V31M ENST00000399107 NM_006467.2 31 Gtg/Atg 0 -POM121 UCSF GRCh37 7 72413497 72413497 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 378 72 89 0 ENST00000434423.2:c.2965C>T p.Pro989Ser p.P989S ENST00000434423 989 Ccc/Tcc 0 -POM121 UCSF GRCh37 7 72413724 72413725 + inframe_insertion In_Frame_Ins INS - - CTC NOVEL P05_Rec Untested WXS Illumina HiSeq 6 0 ENST00000434423.2:c.3192_3193insCTC p.Phe1064_Phe1065insLeu p.F1064_F1065insL ENST00000434423 1064 -/CTC 0 -POMT1 UCSF GRCh37 9 134395559 134395559 + stop_gained Nonsense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 81 30 37 0 ENST00000372228.3:c.1743C>G p.Tyr581Ter p.Y581* ENST00000372228 NM_007171.3 581 taC/taG 0 -POTED UCSF GRCh37 21 14982904 14982904 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.1135 P05_Rec Untested WXS Illumina HiSeq 261 34 178 1 ENST00000299443.5:c.355G>A p.Ala119Thr p.A119T ENST00000299443 NM_174981.3 119 Gct/Act 0 -POTEF UCSF GRCh37 2 130877870 130877870 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 270 161 206 0 ENST00000357462.5:c.219G>A p.Arg73= p.R73= ENST00000357462 73 agG/agA 0 -POU4F1 UCSF GRCh37 13 79175722 79175722 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 66 40 0 ENST00000377208.5:c.1088C>T p.Ala363Val p.A363V ENST00000377208 NM_006237.3 363 gCc/gTc 0 -PPFIA2 UCSF GRCh37 12 81661691 81661691 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 68 55 0 ENST00000549396.1:c.3486G>A p.Gln1162= p.Q1162= ENST00000549396 NM_003625.3 1162 caG/caA 0 -PPFIBP1 UCSF GRCh37 12 27844847 27844847 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 40 97 0 ENST00000318304.8:c.2869G>A p.Asp957Asn p.D957N ENST00000318304 NM_177444.2 957 Gac/Aac 0 -PPIB UCSF GRCh37 15 64448978 64448978 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 112 82 89 0 ENST00000300026.3:c.474G>A p.Lys158= p.K158= ENST00000300026 NM_000942.4 158 aaG/aaA 0 -PPME1 UCSF GRCh37 11 73962009 73962009 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 88 36 88 0 ENST00000328257.8:c.1020G>A p.Gln340= p.Q340= ENST00000328257 NM_016147.2 340 caG/caA 0 -PPP1R12A UCSF GRCh37 12 80202309 80202309 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 61 91 0 ENST00000261207.5:c.1504C>T p.Pro502Ser p.P502S ENST00000261207 NM_001143885.1 502 Cca/Tca 0 -PPP1R15B UCSF GRCh37 1 204378931 204378931 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 52 44 63 0 ENST00000367188.4:c.1609T>C p.Ser537Pro p.S537P ENST00000367188 NM_032833.3 537 Tct/Cct 0 -PPP1R9A UCSF GRCh37 7 94539568 94539568 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 34 48 0 ENST00000340694.4:c.143G>A p.Gly48Asp p.G48D ENST00000340694 NM_001166163.1 48 gGt/gAt 0 -PPP1R9B UCSF GRCh37 17 48212917 48212917 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 46 56 0 ENST00000316878.6:c.2394+1G>A p.X798_splice ENST00000316878 NM_032595.3 0 -PPP6R1 UCSF GRCh37 19 55743017 55743017 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 16 10 0 ENST00000412770.2:c.2326C>T p.Pro776Ser p.P776S ENST00000412770 NM_014931.3 776 Ccc/Tcc 0 -PPP6R1 UCSF GRCh37 19 55743302 55743302 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 20 12 0 ENST00000412770.2:c.2174C>T p.Thr725Ile p.T725I ENST00000412770 NM_014931.3 725 aCc/aTc 0 -PPP6R2 UCSF GRCh37 22 50877097 50877097 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 21 38 33 0 ENST00000216061.5:c.2034G>A p.Lys678= p.K678= ENST00000216061 678 aaG/aaA 0 -PRAMEF1 UCSF GRCh37 1 12854622 12854622 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 153 66 149 0 ENST00000332296.7:c.846G>A p.Gly282= p.G282= ENST00000332296 NM_023013.2 282 ggG/ggA 0 -PRAMEF12 UCSF GRCh37 1 12837214 12837214 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 152 77 135 0 ENST00000357726.4:c.924C>T p.Asp308= p.D308= ENST00000357726 NM_001080830.1 308 gaC/gaT 0 -PRDM10 UCSF GRCh37 11 129800986 129800986 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 56 43 0 ENST00000358825.5:c.1455G>A p.Pro485= p.P485= ENST00000358825 NM_020228.2 485 ccG/ccA 0 -PRDM15 UCSF GRCh37 21 43274688 43274688 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 30 20 0 ENST00000269844.3:c.1623C>T p.Gly541= p.G541= ENST00000269844 NM_022115.3 541 ggC/ggT 0 -PRDM4 UCSF GRCh37 12 108128109 108128109 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 181 83 142 0 ENST00000228437.5:c.2284C>T p.Pro762Ser p.P762S ENST00000228437 NM_012406.3 762 Cca/Tca 0 -PRDM4 UCSF GRCh37 12 108134731 108134731 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 107 47 76 0 ENST00000228437.5:c.1916T>C p.Ile639Thr p.I639T ENST00000228437 NM_012406.3 639 aTa/aCa 0 -PRDM8 UCSF GRCh37 4 81123189 81123189 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 105 57 48 0 ENST00000339711.4:c.573C>T p.Asp191= p.D191= ENST00000339711 NM_020226.3 191 gaC/gaT 0 -PREP UCSF GRCh37 6 105825268 105825268 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 100 64 103 0 ENST00000369110.3:c.247G>A p.Gly83Arg p.G83R ENST00000369110 NM_002726.4 83 Gga/Aga 0 -PREX1 UCSF GRCh37 20 47270005 47270005 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 110 55 93 0 ENST00000371941.3:c.2240C>T p.Ala747Val p.A747V ENST00000371941 NM_020820.3 747 gCt/gTt 0 -PREX1 UCSF GRCh37 20 47309310 47309310 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 89 41 65 0 ENST00000371941.3:c.936G>A p.Lys312= p.K312= ENST00000371941 NM_020820.3 312 aaG/aaA 0 -PREX1 UCSF GRCh37 20 47269244 47269244 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 32 38 0 ENST00000371941.3:c.2347G>A p.Gly783Ser p.G783S ENST00000371941 NM_020820.3 783 Ggc/Agc 0 -PRG4 UCSF GRCh37 1 186276268 186276291 + inframe_deletion In_Frame_Del DEL GAGCCTGCACCCACCACTCCCAAA GAGCCTGCACCCACCACTCCCAAA - NOVEL P05_Rec Untested WXS Illumina HiSeq 33 0 ENST00000445192.2:c.1431_1454del p.Thr478_Thr485del p.T478_T485del ENST00000445192 NM_005807.3 473 GAGCCTGCACCCACCACTCCCAAA/- 0 -PRIMA1 UCSF GRCh37 14 94203672 94203672 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 13 47 0 ENST00000393140.1:c.274G>A p.Gly92Arg p.G92R ENST00000393140 NM_178013.3 92 Ggg/Agg 0 -PRKAB2 UCSF GRCh37 1 146639345 146639345 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 134 85 132 0 ENST00000254101.3:c.323+1G>A p.X108_splice ENST00000254101 NM_005399.4 0 -PRKAG2 UCSF GRCh37 7 151273519 151273519 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 10 16 0 ENST00000287878.4:c.884C>T p.Ala295Val p.A295V ENST00000287878 NM_016203.3 295 gCt/gTt 0 -PRKAR1B UCSF GRCh37 7 720262 720262 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 29 29 0 ENST00000360274.4:c.279C>T p.Ala93= p.A93= ENST00000360274 NM_002735.2 93 gcC/gcT 0 -PRKAR2B UCSF GRCh37 7 106799893 106799893 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 19 75 0 ENST00000265717.4:c.1124-1G>A p.X375_splice ENST00000265717 NM_002736.2 0 -PRKCE UCSF GRCh37 2 46378252 46378252 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 5 19 15 0 ENST00000306156.3:c.1804G>A p.Ala602Thr p.A602T ENST00000306156 NM_005400.2 602 Gct/Act 0 -PRKCH UCSF GRCh37 14 61915909 61915909 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 31 43 0 ENST00000332981.5:c.641G>A p.Cys214Tyr p.C214Y ENST00000332981 NM_006255.3 214 tGc/tAc 0 -PRKCZ UCSF GRCh37 1 2087490 2087490 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 117 64 120 0 ENST00000378567.3:c.933C>T p.Pro311= p.P311= ENST00000378567 NM_002744.4 311 ccC/ccT 0 -PRKDC UCSF GRCh37 8 48715922 48715922 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 107 60 80 0 ENST00000314191.2:c.9864G>A p.Arg3288= p.R3288= ENST00000314191 NM_006904.6 3288 cgG/cgA 0 -PRKG2 UCSF GRCh37 4 82031649 82031649 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 29 66 0 ENST00000264399.1:c.1893G>A p.Val631= p.V631= ENST00000264399 NM_006259.1 631 gtG/gtA 0 -PRLHR UCSF GRCh37 10 120354123 120354123 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 9 23 10 0 ENST00000239032.2:c.634G>A p.Glu212Lys p.E212K ENST00000239032 NM_004248.2 212 Gag/Aag 0 -PRM3 UCSF GRCh37 16 11367397 11367397 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 6 8 0 ENST00000327157.2:c.56G>A p.Gly19Asp p.G19D ENST00000327157 NM_021247.1 19 gGc/gAc 0 -PROK1 UCSF GRCh37 1 110996646 110996646 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 23 11 0 ENST00000271331.3:c.136G>A p.Gly46Arg p.G46R ENST00000271331 NM_032414.2 46 Ggg/Agg 0 -PROX2 UCSF GRCh37 14 75330486 75330486 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 25 51 0 ENST00000556489.2:c.52C>T p.Leu18= p.L18= ENST00000556489 NM_001243007.1 18 Cta/Tta 0 -PRR14 UCSF GRCh37 16 30664057 30664057 + missense_variant Missense_Mutation SNP T T A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 42 44 0 ENST00000300835.4:c.208T>A p.Ser70Thr p.S70T ENST00000300835 NM_024031.2 70 Tca/Aca 0 -PRRC2A UCSF GRCh37 6 31592294 31592294 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 22 15 0 ENST00000376007.4:c.458G>A p.Gly153Glu p.G153E ENST00000376007 NM_080686.2 153 gGa/gAa 0 -PRRC2B UCSF GRCh37 9 134350643 134350643 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 41 33 0 ENST00000357304.4:c.3127C>T p.Pro1043Ser p.P1043S ENST00000357304 NM_013318.3 1043 Ccc/Tcc 0 -PRRC2C UCSF GRCh37 1 171509690 171509690 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 119 62 61 0 ENST00000338920.4:c.3079G>A p.Glu1027Lys p.E1027K ENST00000338920 NM_015172.3 1027 Gaa/Aaa 0 -PRRC2C UCSF GRCh37 1 171514630 171514630 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 42 52 0 ENST00000338920.4:c.4770C>T p.Asp1590= p.D1590= ENST00000338920 NM_015172.3 1590 gaC/gaT 0 -PRSS48 UCSF GRCh37 4 152212490 152212490 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 80 90 0 ENST00000455694.2:c.872C>T p.Pro291Leu p.P291L ENST00000455694 NM_183375.2 291 cCc/cTc 0 -PRSS57 UCSF GRCh37 19 686978 686978 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 19 17 0 ENST00000329267.7:c.592C>T p.Leu198Phe p.L198F ENST00000329267 NM_214710.3 198 Ctt/Ttt 0 -PRUNE UCSF GRCh37 1 150999738 150999738 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 11 32 0 ENST00000271620.3:c.709G>T p.Asp237Tyr p.D237Y ENST00000271620 NM_021222.1 237 Gac/Tac 0 -PSG4 UCSF GRCh37 19 43699353 43699353 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 173 106 226 0 ENST00000405312.3:c.782C>T p.Thr261Ile p.T261I ENST00000405312 NM_002780.4 261 aCc/aTc 0 -PSG8 UCSF GRCh37 19 43259405 43259405 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 86 237 0 ENST00000306511.4:c.723G>A p.Lys241= p.K241= ENST00000306511 NM_182707.2 241 aaG/aaA 0 -PSMD1 UCSF GRCh37 2 232028412 232028412 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 17 35 66 0 ENST00000308696.6:c.2452G>A p.Glu818Lys p.E818K ENST00000308696 NM_002807.3 818 Gaa/Aaa 0 -PSMD2 UCSF GRCh37 3 184017640 184017640 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 114 28 67 0 ENST00000310118.4:c.137C>T p.Ser46Phe p.S46F ENST00000310118 NM_002808.4 46 tCt/tTt 0 -PSME4 UCSF GRCh37 2 54117319 54117319 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 54 102 0 ENST00000404125.1:c.4218C>T p.Cys1406= p.C1406= ENST00000404125 NM_014614.2 1406 tgC/tgT 0 -PSTPIP2 UCSF GRCh37 18 43578776 43578776 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 92 51 61 0 ENST00000409746.5:c.546C>T p.Thr182= p.T182= ENST00000409746 NM_024430.3 182 acC/acT 0 -PTCH1 UCSF GRCh37 9 98231306 98231306 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 107 48 66 0 ENST00000331920.6:c.1977G>A p.Gln659= p.Q659= ENST00000331920 NM_000264.3 659 caG/caA 0 -PTCHD2 UCSF GRCh37 1 11580875 11580875 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 20 11 0 ENST00000294484.6:c.2332G>A p.Ala778Thr p.A778T ENST00000294484 NM_020780.1 778 Gcc/Acc 0 -PTH1R UCSF GRCh37 3 46939927 46939927 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 17 20 30 0 ENST00000313049.5:c.603C>T p.Ser201= p.S201= ENST00000313049 201 tcC/tcT 0 -PTH2R UCSF GRCh37 2 209358284 209358284 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 106 69 67 0 ENST00000272847.2:c.1553G>A p.Gly518Glu p.G518E ENST00000272847 NM_005048.3 518 gGg/gAg 0 -PTPN13 UCSF GRCh37 4 87691066 87691066 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 147 75 139 0 ENST00000411767.2:c.4634G>A p.Ser1545Asn p.S1545N ENST00000411767 1545 aGt/aAt 0 -PTPN13 UCSF GRCh37 4 87556525 87556525 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 34 62 0 ENST00000411767.2:c.115+1G>A p.X39_splice ENST00000411767 0 -PTPN9 UCSF GRCh37 15 75819501 75819501 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 24 34 0 ENST00000306726.2:c.165G>A p.Lys55= p.K55= ENST00000306726 NM_002833.2 55 aaG/aaA 0 -PTPRB UCSF GRCh37 12 70928355 70928355 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 13 11 0 ENST00000261266.5:c.5627C>T p.Thr1876Ile p.T1876I ENST00000261266 NM_002837.4 1876 aCc/aTc 0 -PTPRD UCSF GRCh37 9 8331732 8331732 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 31 61 0 ENST00000356435.5:c.5384G>A p.Gly1795Asp p.G1795D ENST00000356435 1795 gGc/gAc 0 -PTPRD UCSF GRCh37 9 8518062 8518062 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 140 63 154 0 ENST00000356435.5:c.1329G>A p.Glu443= p.E443= ENST00000356435 443 gaG/gaA 0 -PTPRS UCSF GRCh37 19 5244361 5244361 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 49 50 0 ENST00000357368.4:c.1121G>A p.Gly374Glu p.G374E ENST00000357368 NM_002850.3 374 gGg/gAg 0 -PTPRS UCSF GRCh37 19 5231583 5231583 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 12 11 0 ENST00000357368.4:c.1893C>T p.Arg631= p.R631= ENST00000357368 NM_002850.3 631 cgC/cgT 0 -PTPRZ1 UCSF GRCh37 7 121653840 121653840 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 192 50 146 0 ENST00000393386.2:c.4740G>A p.Gly1580= p.G1580= ENST00000393386 NM_001206838.1 1580 ggG/ggA 0 -PWP2 UCSF GRCh37 21 45545915 45545915 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 30 55 0 ENST00000291576.7:c.1989G>A p.Met663Ile p.M663I ENST00000291576 NM_005049.2 663 atG/atA 0 -PWWP2A UCSF GRCh37 5 159545853 159545853 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 11 18 12 0 ENST00000307063.7:c.543G>A p.Gly181= p.G181= ENST00000307063 NM_001130864.1 181 ggG/ggA 0 -PWWP2B UCSF GRCh37 10 134218986 134218986 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 16 20 13 0 ENST00000305233.5:c.982C>T p.Leu328= p.L328= ENST00000305233 NM_138499.3 328 Ctg/Ttg 0 -PXK UCSF GRCh37 3 58398660 58398660 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 30 87 0 ENST00000356151.2:c.1498C>T p.Pro500Ser p.P500S ENST00000356151 NM_017771.3 500 Ccg/Tcg 0 -QRICH2 UCSF GRCh37 17 74288835 74288835 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 31 54 0 ENST00000262765.5:c.1475G>A p.Gly492Asp p.G492D ENST00000262765 NM_032134.1 492 gGt/gAt 0 -R3HDM1 UCSF GRCh37 2 136403047 136403047 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 59 37 53 0 ENST00000264160.4:c.1573C>T p.Pro525Ser p.P525S ENST00000264160 NM_015361.2 525 Cct/Tct 0 -R3HDM2 UCSF GRCh37 12 57662174 57662174 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 36 57 0 ENST00000347140.3:c.1900G>A p.Val634Met p.V634M ENST00000347140 634 Gtg/Atg 0 -RAB32 UCSF GRCh37 6 146870851 146870851 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 21 52 0 ENST00000367495.3:c.502G>A p.Ala168Thr p.A168T ENST00000367495 NM_006834.3 168 Gcc/Acc 0 -RAB36 UCSF GRCh37 22 23503121 23503121 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.236,1000g2011may_all_0.3625,snp132_rs5759611 P05_Rec Untested WXS Illumina HiSeq 55 35 46 1 ENST00000263116.2:c.873G>A p.Ser291= p.S291= ENST00000263116 NM_004914.2 291 tcG/tcA 0 -RAB3D UCSF GRCh37 19 11436176 11436176 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 98 55 42 0 ENST00000222120.3:c.558G>A p.Lys186= p.K186= ENST00000222120 NM_004283.3 186 aaG/aaA 0 -RAB3GAP1 UCSF GRCh37 2 135926128 135926128 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 65 79 0 ENST00000264158.8:c.2723C>T p.Thr908Ile p.T908I ENST00000264158 NM_012233.2 908 aCt/aTt 0 -RAB5C UCSF GRCh37 17 40280691 40280691 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 44 80 0 ENST00000346213.4:c.294C>T p.Ile98= p.I98= ENST00000346213 NM_004583.3 98 atC/atT 0 -RAD18 UCSF GRCh37 3 8940660 8940660 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 18 49 0 ENST00000264926.2:c.1240G>A p.Glu414Lys p.E414K ENST00000264926 NM_020165.3 414 Gaa/Aaa 0 -RAD18 UCSF GRCh37 3 8940694 8940694 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 106 16 54 0 ENST00000264926.2:c.1206T>C p.Phe402= p.F402= ENST00000264926 NM_020165.3 402 ttT/ttC 0 -RANBP10 UCSF GRCh37 16 67763929 67763929 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 69 28 28 0 ENST00000317506.3:c.910G>A p.Glu304Lys p.E304K ENST00000317506 NM_020850.1 304 Gag/Aag 0 -RANBP17 UCSF GRCh37 5 170380687 170380687 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 6 14 46 0 ENST00000523189.1:c.1555G>A p.Asp519Asn p.D519N ENST00000523189 NM_022897.3 519 Gat/Aat 0 -RANGAP1 UCSF GRCh37 22 41660817 41660817 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 39 58 0 ENST00000356244.3:c.331G>A p.Gly111Arg p.G111R ENST00000356244 NM_002883.3 111 Ggg/Agg 0 -RASSF2 UCSF GRCh37 20 4776541 4776541 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 37 45 0 ENST00000379376.2:c.207G>A p.Gln69= p.Q69= ENST00000379376 NM_170774.1 69 caG/caA 0 -RB1CC1 UCSF GRCh37 8 53573509 53573509 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 22 52 0 ENST00000025008.5:c.1604G>A p.Arg535Lys p.R535K ENST00000025008 NM_014781.4 535 aGg/aAg 0 -RB1CC1 UCSF GRCh37 8 53569395 53569395 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 137 68 129 0 ENST00000025008.5:c.2994G>A p.Arg998= p.R998= ENST00000025008 NM_014781.4 998 agG/agA 0 -RBAK UCSF GRCh37 7 5097359 5097359 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 29 104 0 ENST00000353796.3:c.187G>A p.Gly63Arg p.G63R ENST00000353796 NM_001204456.1 63 Gga/Aga 0 -RBL2 UCSF GRCh37 16 53487653 53487653 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 44 47 0 ENST00000262133.6:c.964C>T p.Leu322= p.L322= ENST00000262133 NM_005611.3 322 Cta/Tta 0 -RBM14 UCSF GRCh37 11 66392419 66392419 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 136 105 86 0 ENST00000310137.4:c.1072G>A p.Val358Ile p.V358I ENST00000310137 NM_006328.3 358 Gtt/Att 0 -RBP2 UCSF GRCh37 3 139195235 139195235 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 22 34 0 ENST00000232217.2:c.67G>A p.Ala23Thr p.A23T ENST00000232217 NM_004164.2 23 Gcc/Acc 0 -RBP3 UCSF GRCh37 10 48390586 48390586 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 56 40 0 ENST00000224600.4:c.292C>T p.Pro98Ser p.P98S ENST00000224600 NM_002900.2 98 Cct/Tct 0 -RBPJL UCSF GRCh37 20 43936831 43936831 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 44 30 0 ENST00000343694.3:c.71G>A p.Arg24Lys p.R24K ENST00000343694 NM_001281449.1 24 aGa/aAa 0 -RCCD1 UCSF GRCh37 15 91504989 91504989 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 43 65 0 ENST00000394258.2:c.1121G>A p.Gly374Glu p.G374E ENST00000394258 NM_033544.2 374 gGg/gAg 0 -REEP4 UCSF GRCh37 8 21997031 21997031 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 16 22 0 ENST00000306306.3:c.315G>A p.Ala105= p.A105= ENST00000306306 NM_025232.2 105 gcG/gcA 0 -RELN UCSF GRCh37 7 103183256 103183256 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 95 69 97 0 ENST00000428762.1:c.6593C>T p.Ser2198Phe p.S2198F ENST00000428762 NM_005045.3 2198 tCt/tTt 0 -RELN UCSF GRCh37 7 103163894 103163894 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 145 56 131 0 ENST00000428762.1:c.7434G>A p.Gly2478= p.G2478= ENST00000428762 NM_005045.3 2478 ggG/ggA 0 -REXO1L1 UCSF GRCh37 8 86575271 86575271 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 8 16 14 0 ENST00000379010.2:c.456G>A p.Gln152= p.Q152= ENST00000379010 NM_172239.4 152 caG/caA 0 -RFWD3 UCSF GRCh37 16 74685996 74685996 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 37 79 0 ENST00000361070.4:c.543C>T p.Tyr181= p.Y181= ENST00000361070 NM_018124.3 181 taC/taT 0 -RFX3 UCSF GRCh37 9 3225266 3225266 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 26 43 0 ENST00000382004.3:c.2026G>A p.Val676Ile p.V676I ENST00000382004 NM_134428.1 676 Gta/Ata 0 -RFX8 UCSF GRCh37 2 102019210 102019210 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 25 37 0 ENST00000428343.1:c.933C>T p.Ser311= p.S311= ENST00000428343 NM_001145664.1 311 tcC/tcT 0 -RGNEF UCSF GRCh37 5 73142300 73142300 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 51 85 0 ENST00000426542.2:c.1635G>A p.Lys545= p.K545= ENST00000426542 545 aaG/aaA 0 -RGPD4 UCSF GRCh37 2 108489331 108489331 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 110 63 230 0 ENST00000408999.3:c.4871C>T p.Ser1624Phe p.S1624F ENST00000408999 NM_182588.2 1624 tCc/tTc 0 -RGS12 UCSF GRCh37 4 3432488 3432488 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 16 14 10 0 ENST00000336727.3:c.3920C>T p.Ser1307Phe p.S1307F ENST00000336727 NM_002926.3 1307 tCc/tTc 0 -RHBDF1 UCSF GRCh37 16 108500 108500 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 123 79 86 0 ENST00000262316.6:c.2407C>T p.Gln803Ter p.Q803* ENST00000262316 NM_022450.3 803 Cag/Tag 0 -RHBDF2 UCSF GRCh37 17 74469754 74469754 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 7 12 0 ENST00000313080.4:c.1796C>T p.Pro599Leu p.P599L ENST00000313080 NM_024599.5 599 cCc/cTc 0 -RHO UCSF GRCh37 3 129252456 129252456 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 133 47 76 0 ENST00000296271.3:c.942G>A p.Arg314= p.R314= ENST00000296271 NM_000539.3 314 cgG/cgA 0 -RHOBTB3 UCSF GRCh37 5 95088031 95088031 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 61 59 0 ENST00000379982.3:c.659G>A p.Arg220Lys p.R220K ENST00000379982 NM_014899.3 220 aGa/aAa 0 -RICTOR UCSF GRCh37 5 39003668 39003668 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 23 46 0 ENST00000357387.3:c.252C>T p.Ile84= p.I84= ENST00000357387 NM_152756.3 84 atC/atT 0 -RIF1 UCSF GRCh37 2 152331414 152331414 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 14 34 0 ENST00000243326.5:c.7248C>T p.Asn2416= p.N2416= ENST00000243326 2416 aaC/aaT 0 -RIMBP2 UCSF GRCh37 12 130929794 130929794 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 20 45 0 ENST00000261655.4:c.551C>T p.Pro184Leu p.P184L ENST00000261655 NM_015347.4 184 cCg/cTg 0 -RIOK2 UCSF GRCh37 5 96503335 96503335 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 112 67 109 0 ENST00000283109.3:c.1233C>T p.Asn411= p.N411= ENST00000283109 NM_018343.2 411 aaC/aaT 0 -RLTPR UCSF GRCh37 16 67679506 67679506 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 47 30 0 ENST00000334583.6:c.104G>A p.Gly35Glu p.G35E ENST00000334583 NM_001013838.1 35 gGg/gAg 0 -RMT-ND3 UCSF GRCh37 2 151328193 151328193 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 23 56 0 ENST00000263895.4:c.431G>A p.Ser144Asn p.S144N ENST00000263895 NM_005168.4 144 aGt/aAt 0 -RNF113B UCSF GRCh37 13 98829236 98829236 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 16 50 14 0 ENST00000267291.6:c.255G>A p.Ala85= p.A85= ENST00000267291 NM_178861.4 85 gcG/gcA 0 -RNF114 UCSF GRCh37 20 48565871 48565871 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 37 46 0 ENST00000244061.2:c.600G>A p.Arg200= p.R200= ENST00000244061 NM_018683.3 200 cgG/cgA 0 -RNF123 UCSF GRCh37 3 49737668 49737668 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 27 18 21 0 ENST00000327697.6:c.993G>A p.Val331= p.V331= ENST00000327697 NM_022064.3 331 gtG/gtA 0 -RNF123 UCSF GRCh37 3 49743495 49743495 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 13 36 0 ENST00000327697.6:c.2385G>A p.Lys795= p.K795= ENST00000327697 NM_022064.3 795 aaG/aaA 0 -RNF13 UCSF GRCh37 3 149677842 149677842 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 22 67 0 ENST00000344229.3:c.701-1G>A p.X234_splice ENST00000344229 NM_007282.4 0 -RNF139 UCSF GRCh37 8 125498715 125498715 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 54 97 0 ENST00000303545.3:c.825C>T p.Asp275= p.D275= ENST00000303545 NM_007218.3 275 gaC/gaT 0 -RNF150 UCSF GRCh37 4 141870520 141870520 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 37 102 0 ENST00000515673.2:c.742C>T p.Leu248= p.L248= ENST00000515673 248 Ctg/Ttg 0 -RNF150 UCSF GRCh37 4 141888968 141888968 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 101 70 113 0 ENST00000515673.2:c.544C>T p.Leu182= p.L182= ENST00000515673 182 Ctg/Ttg 0 -RNF157 UCSF GRCh37 17 74158020 74158020 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 47 69 0 ENST00000269391.6:c.856G>A p.Asp286Asn p.D286N ENST00000269391 NM_052916.2 286 Gac/Aac 0 -RNF17 UCSF GRCh37 13 25428150 25428150 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 41 84 0 ENST00000255324.5:c.3478C>T p.Gln1160Ter p.Q1160* ENST00000255324 NM_031277.2 1160 Cag/Tag 0 -RNF180 UCSF GRCh37 5 63626112 63626112 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 29 52 0 ENST00000389100.4:c.1458G>A p.Leu486= p.L486= ENST00000389100 NM_001113561.1 486 ttG/ttA 0 -RNF2 UCSF GRCh37 1 185069003 185069003 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0015 P05_Rec Untested WXS Illumina HiSeq 88 53 57 0 ENST00000367510.3:c.818G>A p.Arg273Gln p.R273Q ENST00000367510 NM_007212.3 273 cGa/cAa 0 -RNF213 UCSF GRCh37 17 78323679 78323679 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 48 54 0 ENST00000582970.1:c.10061C>T p.Thr3354Ile p.T3354I ENST00000582970 NM_001256071.1 3354 aCc/aTc 0 -RNF213 UCSF GRCh37 17 78293052 78293052 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 138 65 86 0 ENST00000582970.1:c.2964G>A p.Glu988= p.E988= ENST00000582970 NM_001256071.1 988 gaG/gaA 0 -RNF214 UCSF GRCh37 11 117153912 117153912 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 48 20 51 0 ENST00000300650.4:c.2032G>A p.Val678Ile p.V678I ENST00000300650 NM_207343.3 678 Gta/Ata 0 -RNF220 UCSF GRCh37 1 44877999 44877999 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 226 123 212 0 ENST00000355387.2:c.230G>A p.Gly77Asp p.G77D ENST00000355387 77 gGt/gAt 0 -RNF24 UCSF GRCh37 20 3928926 3928926 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 31 25 0 ENST00000336095.6:c.144G>A p.Arg48= p.R48= ENST00000336095 NM_007219.3 48 agG/agA 0 -RNF40 UCSF GRCh37 16 30776630 30776630 + synonymous_variant Silent SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 82 50 64 0 ENST00000324685.6:c.900G>C p.Leu300= p.L300= ENST00000324685 NM_014771.3 300 ctG/ctC 0 -RNF5 UCSF GRCh37 6 32148052 32148052 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 161 76 167 0 ENST00000375094.3:c.492C>T p.Ser164= p.S164= ENST00000375094 NM_006913.3 164 tcC/tcT 0 -RNGTT UCSF GRCh37 6 89388107 89388107 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 37 71 0 ENST00000369485.4:c.1471G>A p.Val491Ile p.V491I ENST00000369485 NM_003800.3 491 Gtt/Att 0 -ROS1 UCSF GRCh37 6 117622266 117622266 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 42 82 0 ENST00000368508.3:c.6604C>T p.Pro2202Ser p.P2202S ENST00000368508 NM_002944.2 2202 Ccc/Tcc 0 -RP1 UCSF GRCh37 8 55534714 55534714 + missense_variant Missense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 40 26 44 0 ENST00000220676.1:c.653C>G p.Ala218Gly p.A218G ENST00000220676 NM_006269.1 218 gCt/gGt 0 -RP1L1 UCSF GRCh37 8 10466129 10466129 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 194 108 182 0 ENST00000382483.3:c.5479G>A p.Gly1827Arg p.G1827R ENST00000382483 NM_178857.5 1827 Gga/Aga 0 -RP1L1 UCSF GRCh37 8 10464965 10464965 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 80 109 0 ENST00000382483.3:c.6643C>T p.Pro2215Ser p.P2215S ENST00000382483 NM_178857.5 2215 Ccg/Tcg 0 -RP2 UCSF GRCh37 X 46713289 46713289 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 47 106 0 ENST00000218340.3:c.481G>A p.Asp161Asn p.D161N ENST00000218340 NM_006915.2 161 Gat/Aat 0 -RPIA UCSF GRCh37 2 88991451 88991451 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 9 8 8 0 ENST00000283646.4:c.235G>A p.Glu79Lys p.E79K ENST00000283646 NM_144563.2 79 Gag/Aag 0 -RPL10A UCSF GRCh37 6 35437987 35437987 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 30 92 0 ENST00000322203.6:c.342G>A p.Glu114= p.E114= ENST00000322203 NM_007104.4 114 gaG/gaA 0 -RPL13 UCSF GRCh37 16 89628061 89628061 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 31 34 0 ENST00000311528.5:c.322G>A p.Glu108Lys p.E108K ENST00000311528 NM_001243130.1 108 Gag/Aag 0 -RPP21 UCSF GRCh37 6 30314507 30314507 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 150 84 121 0 ENST00000433076.2:c.409C>T p.Pro137Ser p.P137S ENST00000433076 NM_001199121.1 137 Ccc/Tcc 0 -RPS6KC1 UCSF GRCh37 1 213251046 213251046 + synonymous_variant Silent SNP A A T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 29 43 0 ENST00000366960.3:c.150A>T p.Val50= p.V50= ENST00000366960 NM_012424.3 50 gtA/gtT 0 -RPS8 UCSF GRCh37 1 45243785 45243785 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 12 7 14 0 ENST00000396651.3:c.501G>A p.Gln167= p.Q167= ENST00000396651 167 caG/caA 0 -RPTOR UCSF GRCh37 17 78704465 78704465 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 44 6 54 0 ENST00000306801.3:c.613T>C p.Ser205Pro p.S205P ENST00000306801 NM_020761.2 205 Tcc/Ccc 0 -RRAGB UCSF GRCh37 X 55757830 55757830 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 13 14 21 0 ENST00000262850.7:c.411C>T p.Ser137= p.S137= ENST00000262850 NM_016656.3 137 agC/agT 0 -RRN3 UCSF GRCh37 16 15180303 15180303 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 53 120 0 ENST00000198767.6:c.261G>A p.Gln87= p.Q87= ENST00000198767 NM_018427.3 87 caG/caA 0 -RSC1A1 UCSF GRCh37 1 15987061 15987061 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 44 61 0 ENST00000345034.1:c.698G>A p.Ser233Asn p.S233N ENST00000345034 NM_006511.1 233 aGt/aAt 0 -RTEL1 UCSF GRCh37 20 62292654 62292654 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 25 21 0 ENST00000370018.3:c.106G>A p.Val36Met p.V36M ENST00000370018 NM_032957.4 36 Gtg/Atg 0 -RTN1 UCSF GRCh37 14 60212941 60212941 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 37 108 0 ENST00000267484.5:c.500G>A p.Gly167Glu p.G167E ENST00000267484 NM_021136.2 167 gGa/gAa 0 -RTTN UCSF GRCh37 18 67781767 67781767 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 41 78 0 ENST00000255674.6:c.3597C>T p.Ile1199= p.I1199= ENST00000255674 NM_173630.3 1199 atC/atT 0 -RUNDC3A UCSF GRCh37 17 42390577 42390577 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 41 56 0 ENST00000426726.3:c.329G>A p.Ser110Asn p.S110N ENST00000426726 NM_001144825.1 110 aGc/aAc 0 -RXFP2 UCSF GRCh37 13 32339202 32339202 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 32 41 0 ENST00000298386.2:c.348C>T p.Asp116= p.D116= ENST00000298386 NM_130806.3 116 gaC/gaT 0 -RXRG UCSF GRCh37 1 165398050 165398050 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 40 17 27 0 ENST00000359842.5:c.203C>T p.Ser68Phe p.S68F ENST00000359842 NM_001256570.1 68 tCt/tTt 0 -RYR1 UCSF GRCh37 19 39013693 39013693 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 33 33 0 ENST00000359596.3:c.10285C>T p.Pro3429Ser p.P3429S ENST00000359596 3429 Ccc/Tcc 0 -RYR1 UCSF GRCh37 19 38956832 38956832 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 14 14 0 ENST00000359596.3:c.2972G>A p.Gly991Glu p.G991E ENST00000359596 991 gGg/gAg 0 -RYR1 UCSF GRCh37 19 38968400 38968400 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 12 20 0 ENST00000359596.3:c.4344G>A p.Trp1448Ter p.W1448* ENST00000359596 1448 tgG/tgA 0 -RYR2 UCSF GRCh37 1 237954787 237954787 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 87 49 81 0 ENST00000366574.2:c.13535C>T p.Ala4512Val p.A4512V ENST00000366574 NM_001035.2 4512 gCt/gTt 0 -SAC3D1 UCSF GRCh37 11 64812037 64812037 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 102 38 34 0 ENST00000398846.1:c.915G>A p.Glu305= p.E305= ENST00000398846 NM_013299.3 305 gaG/gaA 0 -SAFB2 UCSF GRCh37 19 5587911 5587911 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 18 8 9 0 ENST00000252542.4:c.2606G>A p.Gly869Asp p.G869D ENST00000252542 NM_014649.2 869 gGc/gAc 0 -SALL1 UCSF GRCh37 16 51174240 51174240 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 149 64 47 0 ENST00000251020.4:c.1893C>T p.Thr631= p.T631= ENST00000251020 NM_002968.2 631 acC/acT 0 -SAMD11 UCSF GRCh37 1 865642 865642 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 12 8 12 0 ENST00000598827.1:c.100C>T p.Pro34Ser p.P34S ENST00000598827 34 Ccc/Tcc 0 -SAMD4A UCSF GRCh37 14 55169174 55169174 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 61 91 0 ENST00000392067.3:c.591G>A p.Gly197= p.G197= ENST00000392067 NM_015589.5 197 ggG/ggA 0 -SAP25 UCSF GRCh37 7 100170545 100170545 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 21 8 9 0 ENST00000538735.1:c.155G>A p.Gly52Asp p.G52D ENST00000538735 NM_001168682.1 52 gGt/gAt 0 -SART1 UCSF GRCh37 11 65743872 65743872 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 25 11 0 ENST00000312397.5:c.1579G>A p.Glu527Lys p.E527K ENST00000312397 NM_005146.4 527 Gag/Aag 0 -SART1 UCSF GRCh37 11 65744536 65744536 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 43 37 18 0 ENST00000312397.5:c.1909G>A p.Gly637Arg p.G637R ENST00000312397 NM_005146.4 637 Ggg/Agg 0 -SATB2 UCSF GRCh37 2 200188589 200188589 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 24 58 0 ENST00000260926.5:c.1479G>A p.Gln493= p.Q493= ENST00000260926 NM_001172517.1 493 caG/caA 0 -SBDS UCSF GRCh37 7 66459269 66459269 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 189 57 109 0 ENST00000246868.2:c.188G>A p.Gly63Asp p.G63D ENST00000246868 NM_016038.2 63 gGt/gAt 0 -SBNO1 UCSF GRCh37 12 123794257 123794257 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 138 45 90 0 ENST00000420886.2:c.3442G>A p.Asp1148Asn p.D1148N ENST00000420886 NM_001167856.1 1148 Gat/Aat 0 -SCAPER UCSF GRCh37 15 76914126 76914126 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 31 45 0 ENST00000324767.7:c.2690C>T p.Ser897Phe p.S897F ENST00000324767 NM_020843.2 897 tCt/tTt 0 -SCARB1 UCSF GRCh37 12 125267329 125267329 + intron_variant Intron SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 25 59 0 ENST00000415380.2:c.1651+3324G>A *551* ENST00000415380 0 -SCML2 UCSF GRCh37 X 18264916 18264916 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 88 129 0 ENST00000251900.4:c.1603C>T p.Pro535Ser p.P535S ENST00000251900 NM_006089.2 535 Ccc/Tcc 0 -SCML4 UCSF GRCh37 6 108068037 108068037 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 60 40 0 ENST00000369020.3:c.343G>A p.Val115Met p.V115M ENST00000369020 NM_198081.3 115 Gtg/Atg 0 -SCN11A UCSF GRCh37 3 38936098 38936098 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 157 71 116 0 ENST00000302328.3:c.2761G>A p.Glu921Lys p.E921K ENST00000302328 NM_014139.2 921 Gag/Aag 0 -SCN4A UCSF GRCh37 17 62036654 62036654 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 15 32 0 ENST00000435607.1:c.1990G>A p.Gly664Arg p.G664R ENST00000435607 NM_000334.4 664 Gga/Aga 0 -SCN4A UCSF GRCh37 17 62038634 62038634 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 192 96 110 0 ENST00000435607.1:c.1764C>T p.Ile588= p.I588= ENST00000435607 NM_000334.4 588 atC/atT 0 -SCN7A UCSF GRCh37 2 167289148 167289148 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 130 63 65 0 ENST00000409855.1:c.2272G>A p.Gly758Arg p.G758R ENST00000409855 NM_002976.3 758 Gga/Aga 0 -SCN7A UCSF GRCh37 2 167301309 167301309 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 108 68 121 0 ENST00000409855.1:c.1589G>A p.Ser530Asn p.S530N ENST00000409855 NM_002976.3 530 aGt/aAt 0 -SCN7A UCSF GRCh37 2 167284406 167284406 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 52 67 0 ENST00000409855.1:c.2745G>A p.Lys915= p.K915= ENST00000409855 NM_002976.3 915 aaG/aaA 0 -SCUBE1 UCSF GRCh37 22 43614335 43614335 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 67 60 0 ENST00000360835.4:c.1817C>T p.Ala606Val p.A606V ENST00000360835 NM_173050.3 606 gCc/gTc 0 -SCYL1 UCSF GRCh37 11 65304221 65304221 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 110 47 77 0 ENST00000270176.5:c.1816G>A p.Gly606Arg p.G606R ENST00000270176 NM_020680.3 606 Gga/Aga 0 -SDHA UCSF GRCh37 5 224511 224511 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 204 102 187 0 ENST00000264932.6:c.187G>A p.Asp63Asn p.D63N ENST00000264932 NM_004168.2 63 Gat/Aat 0 -SDK1 UCSF GRCh37 7 4273021 4273021 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 19 31 0 ENST00000404826.2:c.5962G>A p.Glu1988Lys p.E1988K ENST00000404826 NM_152744.3 1988 Gag/Aag 0 -SDK2 UCSF GRCh37 17 71434243 71434243 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0085 P05_Rec Untested WXS Illumina HiSeq 21 9 17 0 ENST00000392650.3:c.776C>T p.Ser259Leu p.S259L ENST00000392650 NM_001144952.1 259 tCg/tTg 0 -SEC16B UCSF GRCh37 1 177913769 177913769 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 153 103 171 0 ENST00000308284.6:c.1808C>T p.Ala603Val p.A603V ENST00000308284 NM_033127.2 603 gCa/gTa 0 -SEC23A UCSF GRCh37 14 39532604 39532604 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 20 35 0 ENST00000307712.6:c.1322G>A p.Gly441Asp p.G441D ENST00000307712 NM_006364.2 441 gGt/gAt 0 -SEC24B UCSF GRCh37 4 110434905 110434905 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 36 74 0 ENST00000265175.5:c.1906C>T p.Pro636Ser p.P636S ENST00000265175 NM_006323.2 636 Cct/Tct 0 -SEC31A UCSF GRCh37 4 83772730 83772730 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 22 60 0 ENST00000355196.2:c.2182C>T p.Arg728Ter p.R728* ENST00000355196 728 Cga/Tga 0 -SEL1L UCSF GRCh37 14 81993276 81993276 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 41 79 0 ENST00000336735.4:c.141C>T p.Asp47= p.D47= ENST00000336735 NM_005065.5 47 gaC/gaT 0 -SEL1L2 UCSF GRCh37 20 13869127 13869127 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 24 34 0 ENST00000284951.5:c.581G>A p.Gly194Glu p.G194E ENST00000284951 194 gGa/gAa 0 -SEL1L3 UCSF GRCh37 4 25759371 25759371 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 17 35 0 ENST00000399878.3:c.3125C>T p.Ser1042Phe p.S1042F ENST00000399878 NM_015187.3 1042 tCc/tTc 0 -SELE UCSF GRCh37 1 169697058 169697058 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 119 17 103 0 ENST00000333360.7:c.1290C>T p.Cys430= p.C430= ENST00000333360 NM_000450.2 430 tgC/tgT 0 -SEMA3A UCSF GRCh37 7 83590932 83590932 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 151 62 113 0 ENST00000265362.4:c.2071A>C p.Met691Leu p.M691L ENST00000265362 NM_006080.2 691 Atg/Ctg 0 -SEMA3C UCSF GRCh37 7 80418734 80418734 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 67 50 106 0 ENST00000265361.3:c.1242C>T p.Ile414= p.I414= ENST00000265361 NM_006379.3 414 atC/atT 0 -SEMA3D UCSF GRCh37 7 84751156 84751156 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 27 64 0 ENST00000284136.6:c.52C>T p.Leu18Phe p.L18F ENST00000284136 NM_152754.2 18 Ctt/Ttt 0 -SEMA3F UCSF GRCh37 3 50211247 50211247 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 12 25 0 ENST00000002829.3:c.134C>T p.Ala45Val p.A45V ENST00000002829 NM_004186.3 45 gCc/gTc 0 -SEMA3F UCSF GRCh37 3 50223726 50223726 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 10 13 0 ENST00000002829.3:c.1758G>A p.Arg586= p.R586= ENST00000002829 NM_004186.3 586 cgG/cgA 0 -SEMA3G UCSF GRCh37 3 52474455 52474455 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 13 15 14 0 ENST00000231721.2:c.1081G>A p.Asp361Asn p.D361N ENST00000231721 NM_020163.1 361 Gat/Aat 0 -SEMA4D UCSF GRCh37 9 91996225 91996225 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 20 9 0 ENST00000356444.2:c.1483G>A p.Val495Met p.V495M ENST00000356444 495 Gtg/Atg 0 -SEMG2 UCSF GRCh37 20 43851472 43851472 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 42 88 0 ENST00000372769.3:c.1199G>A p.Gly400Asp p.G400D ENST00000372769 NM_003008.2 400 gGc/gAc 0 -SERPINA4 UCSF GRCh37 14 95033368 95033368 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 26 54 0 ENST00000298841.5:c.711G>A p.Glu237= p.E237= ENST00000298841 NM_006215.2 237 gaG/gaA 0 -SERPINB11 UCSF GRCh37 18 61377551 61377551 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 93 48 119 0 ENST00000544088.1:c.124G>A p.Val42Ile p.V42I ENST00000544088 NM_080475.2 42 Gtc/Atc 0 -SERPINB2 UCSF GRCh37 18 61558714 61558714 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 27 48 1 ENST00000299502.4:c.36C>T p.Ala12= p.A12= ENST00000299502 NM_002575.2 12 gcC/gcT 0 -SERPINB6 UCSF GRCh37 6 2948720 2948720 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 50 101 0 ENST00000335686.5:c.943G>A p.Val315Ile p.V315I ENST00000335686 NM_001271824.1 315 Gtc/Atc 0 -SERPINE3 UCSF GRCh37 13 51929249 51929249 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 84 94 0 ENST00000521255.1:c.970C>T p.Pro324Ser p.P324S ENST00000521255 NM_001101320.1 324 Cca/Tca 0 -SETD1A UCSF GRCh37 16 30990750 30990750 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 17 17 0 ENST00000262519.8:c.3643G>A p.Ala1215Thr p.A1215T ENST00000262519 NM_014712.1 1215 Gca/Aca 0 -SETD5 UCSF GRCh37 3 9483315 9483315 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.004,1000g2011may_all_0.01369,snp132_rs17050347 P05_Rec Untested WXS Illumina HiSeq 293 109 148 0 ENST00000402198.1:c.849G>A p.Arg283= p.R283= ENST00000402198 NM_001080517.1 283 cgG/cgA 0 -SETX UCSF GRCh37 9 135221755 135221755 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 24 54 0 ENST00000224140.5:c.281G>A p.Gly94Glu p.G94E ENST00000224140 NM_015046.5 94 gGa/gAa 0 -SEZ6L2 UCSF GRCh37 16 29900010 29900010 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 24 13 13 0 ENST00000308713.5:c.890C>T p.Ala297Val p.A297V ENST00000308713 NM_001114099.2 297 gCc/gTc 0 -SF3A3 UCSF GRCh37 1 38447484 38447484 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 45 71 0 ENST00000373019.4:c.469-1G>A p.X157_splice ENST00000373019 NM_006802.2 0 -SF3B3 UCSF GRCh37 16 70588362 70588362 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 160 48 108 0 ENST00000302516.5:c.1416C>T p.Ala472= p.A472= ENST00000302516 NM_012426.4 472 gcC/gcT 0 -SFI1 UCSF GRCh37 22 32011115 32011115 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 7 10 0 ENST00000400288.2:c.3150C>T p.Ala1050= p.A1050= ENST00000400288 NM_001007467.2 1050 gcC/gcT 0 -SFMBT1 UCSF GRCh37 3 52941713 52941713 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 31 59 0 ENST00000394752.3:c.1943G>A p.Gly648Glu p.G648E ENST00000394752 NM_016329.3 648 gGg/gAg 0 -SGK2 UCSF GRCh37 20 42203554 42203554 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 12 29 0 ENST00000341458.4:c.783G>A p.Leu261= p.L261= ENST00000341458 NM_016276.3 261 ttG/ttA 0 -SGSH UCSF GRCh37 17 78185869 78185869 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 25 18 0 ENST00000326317.6:c.949+1G>A p.X317_splice ENST00000326317 NM_000199.3 0 -SH3BP2 UCSF GRCh37 4 2831619 2831619 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 58 40 0 ENST00000356331.5:c.986G>A p.Arg329Lys p.R329K ENST00000356331 NM_003023.4 329 aGa/aAa 0 -SH3D21 UCSF GRCh37 1 36785572 36785572 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 39 83 0 ENST00000453908.2:c.1308G>A p.Glu436= p.E436= ENST00000453908 NM_001162530.1 436 gaG/gaA 0 -SHISA6 UCSF GRCh37 17 11145222 11145222 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 102 18 38 0 ENST00000409168.3:c.483G>A p.Pro161= p.P161= ENST00000409168 NM_001173461.1 161 ccG/ccA 0 -SHISA9 UCSF GRCh37 16 13002407 13002407 + intron_variant Intron SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 30 79 0 ENST00000558583.1:c.686+5923G>A *229* ENST00000558583 NM_001145204.2 0 -SHROOM3 UCSF GRCh37 4 77357299 77357299 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 56 114 0 ENST00000296043.6:c.94C>T p.Leu32= p.L32= ENST00000296043 NM_020859.3 32 Ctg/Ttg 0 -SHROOM3 UCSF GRCh37 4 77676169 77676169 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 38 61 0 ENST00000296043.6:c.4533G>A p.Arg1511= p.R1511= ENST00000296043 NM_020859.3 1511 agG/agA 0 -SIAH3 UCSF GRCh37 13 46357545 46357545 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 31 35 0 ENST00000400405.2:c.783G>A p.Glu261= p.E261= ENST00000400405 NM_198849.2 261 gaG/gaA 0 -SIDT2 UCSF GRCh37 11 117052778 117052778 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 11 32 0 ENST00000324225.4:c.473C>T p.Thr158Ile p.T158I ENST00000324225 NM_001040455.1 158 aCt/aTt 0 -SIDT2 UCSF GRCh37 11 117063895 117063895 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 233 176 216 0 ENST00000324225.4:c.2132C>T p.Pro711Leu p.P711L ENST00000324225 NM_001040455.1 711 cCc/cTc 0 -SIGLEC1 UCSF GRCh37 20 3673728 3673728 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 18 11 0 ENST00000344754.4:c.3559C>T p.Gln1187Ter p.Q1187* ENST00000344754 NM_023068.3 1187 Cag/Tag 0 -SIGLEC5 UCSF GRCh37 19 52132855 52132855 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 5 12 0 ENST00000534261.2:c.456G>A p.Glu152= p.E152= ENST00000534261 152 gaG/gaA 0 -SIK1 UCSF GRCh37 21 44841865 44841865 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 28 48 0 ENST00000270162.6:c.326G>A p.Gly109Glu p.G109E ENST00000270162 NM_173354.3 109 gGa/gAa 0 -SIK3 UCSF GRCh37 11 116746647 116746647 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 52 76 0 ENST00000292055.4:c.1000C>T p.Leu334= p.L334= ENST00000292055 NM_025164.3 334 Ctg/Ttg 0 -SIPA1L3 UCSF GRCh37 19 38579470 38579470 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 43 31 52 0 ENST00000222345.6:c.1644G>A p.Arg548= p.R548= ENST00000222345 NM_015073.1 548 agG/agA 0 -SIRT2 UCSF GRCh37 19 39380548 39380548 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 33 60 0 ENST00000249396.7:c.322G>A p.Glu108Lys p.E108K ENST00000249396 NM_012237.3 108 Gag/Aag 0 -SIRT4 UCSF GRCh37 12 120750410 120750410 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 11 56 0 ENST00000202967.4:c.649G>A p.Val217Ile p.V217I ENST00000202967 NM_012240.2 217 Gtc/Atc 0 -SKAP2 UCSF GRCh37 7 26709795 26709795 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 81 12 35 0 ENST00000345317.2:c.1004G>A p.Gly335Asp p.G335D ENST00000345317 NM_003930.3 335 gGc/gAc 0 -SKIV2L2 UCSF GRCh37 5 54639158 54639158 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 93 33 76 0 ENST00000230640.5:c.782-1G>A p.X261_splice ENST00000230640 NM_015360.4 0 -SLC12A9 UCSF GRCh37 7 100454542 100454542 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 95 25 32 0 ENST00000354161.3:c.501C>T p.Asn167= p.N167= ENST00000354161 NM_020246.3 167 aaC/aaT 0 -SLC15A2 UCSF GRCh37 3 121658311 121658311 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 69 58 75 0 ENST00000489711.1:c.1877C>T p.Ser626Phe p.S626F ENST00000489711 NM_021082.3 626 tCt/tTt 0 -SLC16A14 UCSF GRCh37 2 230910924 230910924 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 31 72 0 ENST00000295190.4:c.918G>A p.Gly306= p.G306= ENST00000295190 NM_152527.4 306 ggG/ggA 0 -SLC18A1 UCSF GRCh37 8 20036854 20036854 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 51 85 0 ENST00000276373.5:c.266C>T p.Thr89Ile p.T89I ENST00000276373 NM_003053.3 89 aCc/aTc 0 -SLC24A6 UCSF GRCh37 12 113756781 113756781 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 19 31 0 ENST00000202831.3:c.790C>T p.Pro264Ser p.P264S ENST00000202831 NM_024959.2 264 Cca/Tca 0 -SLC25A19 UCSF GRCh37 17 73279605 73279605 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 8 28 0 ENST00000320362.3:c.358G>A p.Val120Met p.V120M ENST00000320362 120 Gtg/Atg 0 -SLC26A3 UCSF GRCh37 7 107416971 107416971 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 14 64 0 ENST00000340010.5:c.1603G>A p.Val535Met p.V535M ENST00000340010 NM_000111.2 535 Gtg/Atg 0 -SLC26A6 UCSF GRCh37 3 48666082 48666082 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 41 68 0 ENST00000395550.2:c.1665G>A p.Glu555= p.E555= ENST00000395550 555 gaG/gaA 0 -SLC26A9 UCSF GRCh37 1 205889351 205889351 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 21 47 0 ENST00000367135.3:c.2063C>T p.Ser688Phe p.S688F ENST00000367135 NM_052934.3 688 tCc/tTc 0 -SLC27A4 UCSF GRCh37 9 131107546 131107546 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 128 32 22 0 ENST00000300456.4:c.274G>A p.Ala92Thr p.A92T ENST00000300456 NM_005094.3 92 Gcc/Acc 0 -SLC28A3 UCSF GRCh37 9 86912910 86912910 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 62 123 0 ENST00000376238.4:c.694G>A p.Gly232Arg p.G232R ENST00000376238 NM_001199633.1 232 Gga/Aga 0 -SLC2A2 UCSF GRCh37 3 170716107 170716107 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 22 65 0 ENST00000314251.3:c.1249C>T p.Pro417Ser p.P417S ENST00000314251 NM_001278659.1 417 Ccg/Tcg 0 -SLC2A5 UCSF GRCh37 1 9098964 9098964 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 5 19 0 ENST00000377424.4:c.1021C>T p.Arg341Trp p.R341W ENST00000377424 NM_003039.2 341 Cgg/Tgg 0 -SLC30A8 UCSF GRCh37 8 118165280 118165280 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 28 37 0 ENST00000456015.2:c.369G>A p.Leu123= p.L123= ENST00000456015 NM_173851.2 123 ttG/ttA 0 -SLC33A1 UCSF GRCh37 3 155571041 155571041 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 20 21 0 ENST00000359479.3:c.746C>T p.Pro249Leu p.P249L ENST00000359479 NM_004733.3 249 cCt/cTt 0 -SLC35B2 UCSF GRCh37 6 44222530 44222530 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 37 52 0 ENST00000393812.3:c.1212C>T p.Ala404= p.A404= ENST00000393812 NM_178148.2 404 gcC/gcT 0 -SLC35F5 UCSF GRCh37 2 114493359 114493359 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 17 13 0 ENST00000245680.2:c.827C>T p.Thr276Ile p.T276I ENST00000245680 NM_025181.2 276 aCt/aTt 0 -SLC35G6 UCSF GRCh37 17 7385318 7385318 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 37 24 0 ENST00000412468.2:c.15C>T p.His5= p.H5= ENST00000412468 NM_001102614.1 5 caC/caT 0 -SLC38A3 UCSF GRCh37 3 50255394 50255394 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 57 91 0 ENST00000420502.1:n.1054C>T *352* ENST00000420502 0 -SLC38A8 UCSF GRCh37 16 84050245 84050245 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 105 44 33 0 ENST00000299709.3:c.1041G>A p.Arg347= p.R347= ENST00000299709 NM_001080442.1 347 cgG/cgA 0 -SLC39A2 UCSF GRCh37 14 21467698 21467698 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 101 37 118 0 ENST00000298681.4:c.93G>A p.Trp31Ter p.W31* ENST00000298681 NM_014579.3 31 tgG/tgA 0 -SLC41A2 UCSF GRCh37 12 105260296 105260296 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 33 60 0 ENST00000258538.3:c.1089G>A p.Trp363Ter p.W363* ENST00000258538 NM_032148.3 363 tgG/tgA 0 -SLC4A10 UCSF GRCh37 2 162807267 162807267 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 40 40 0 ENST00000446997.1:c.2450C>T p.Ala817Val p.A817V ENST00000446997 NM_001178015.1 817 gCt/gTt 0 -SLC4A2 UCSF GRCh37 7 150762019 150762019 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 33 32 0 ENST00000413384.2:c.544G>A p.Ala182Thr p.A182T ENST00000413384 NM_003040.3 182 Gcg/Acg 0 -SLC4A2 UCSF GRCh37 7 150768682 150768682 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 21 21 0 ENST00000413384.2:c.2181G>A p.Gly727= p.G727= ENST00000413384 NM_003040.3 727 ggG/ggA 0 -SLC4A3 UCSF GRCh37 2 220500543 220500543 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 9 12 9 0 ENST00000317151.3:c.2121G>A p.Gln707= p.Q707= ENST00000317151 707 caG/caA 0 -SLC4A7 UCSF GRCh37 3 27424686 27424686 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 101 30 53 0 ENST00000295736.5:c.3521G>A p.Gly1174Glu p.G1174E ENST00000295736 NM_003615.4 1174 gGg/gAg 0 -SLC4A7 UCSF GRCh37 3 27453176 27453176 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 19 28 0 ENST00000295736.5:c.1696G>A p.Glu566Lys p.E566K ENST00000295736 NM_003615.4 566 Gag/Aag 0 -SLC5A3 UCSF GRCh37 21 35468772 35468772 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 44 64 0 ENST00000381151.3:c.1275G>A p.Trp425Ter p.W425* ENST00000381151 425 tgG/tgA 0 -SLC5A5 UCSF GRCh37 19 17986865 17986865 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 28 42 0 ENST00000222248.3:c.648C>T p.Pro216= p.P216= ENST00000222248 NM_000453.2 216 ccC/ccT 0 -SLC5A6 UCSF GRCh37 2 27426165 27426165 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 31 62 0 ENST00000310574.3:c.1143C>T p.Asp381= p.D381= ENST00000310574 NM_021095.2 381 gaC/gaT 0 -SLC5A9 UCSF GRCh37 1 48703449 48703449 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 22 45 0 ENST00000438567.2:c.1391C>T p.Thr464Ile p.T464I ENST00000438567 NM_001011547.2 464 aCc/aTc 0 -SLC6A14 UCSF GRCh37 X 115577980 115577980 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 93 54 39 0 ENST00000371900.4:c.863G>A p.Gly288Asp p.G288D ENST00000371900 NM_007231.3 288 gGt/gAt 0 -SLC6A16 UCSF GRCh37 19 49812602 49812602 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 13 51 0 ENST00000335875.4:c.943C>T p.Leu315= p.L315= ENST00000335875 NM_014037.2 315 Ctg/Ttg 0 -SLC6A18 UCSF GRCh37 5 1225747 1225747 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 33 40 0 ENST00000324642.3:c.155G>A p.Gly52Glu p.G52E ENST00000324642 NM_182632.2 52 gGa/gAa 0 -SLC6A20 UCSF GRCh37 3 45817423 45817423 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 53 62 0 ENST00000358525.4:c.412G>A p.Glu138Lys p.E138K ENST00000358525 NM_020208.3 138 Gag/Aag 0 -SLC7A6 UCSF GRCh37 16 68325475 68325475 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 136 56 89 0 ENST00000219343.6:c.933G>A p.Gln311= p.Q311= ENST00000219343 NM_003983.5 311 caG/caA 0 -SLC8A2 UCSF GRCh37 19 47935511 47935511 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 49 54 0 ENST00000236877.6:c.2302G>A p.Asp768Asn p.D768N ENST00000236877 NM_015063.2 768 Gac/Aac 0 -SLC9A3 UCSF GRCh37 5 476142 476142 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 21 11 8 0 ENST00000264938.3:c.2133G>A p.Lys711= p.K711= ENST00000264938 NM_004174.2 711 aaG/aaA 0 -SLC9A5 UCSF GRCh37 16 67289019 67289019 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 46 56 0 ENST00000299798.11:c.586G>A p.Val196Met p.V196M ENST00000299798 NM_004594.2 196 Gtg/Atg 0 -SLC9A8 UCSF GRCh37 20 48503313 48503313 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 51 25 0 ENST00000361573.2:c.1516C>T p.Leu506= p.L506= ENST00000361573 506 Ctg/Ttg 0 -SLFN12L UCSF GRCh37 17 33802212 33802212 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 214 122 259 0 ENST00000260908.7:c.1497G>A p.Lys499= p.K499= ENST00000260908 NM_001195790.1 499 aaG/aaA 0 -SMAD4 UCSF GRCh37 18 48573634 48573634 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 101 57 88 0 ENST00000342988.3:c.218C>T p.Thr73Ile p.T73I ENST00000342988 NM_005359.5 73 aCc/aTc 0 -SMAD6 UCSF GRCh37 15 67073393 67073393 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 11 10 0 ENST00000288840.5:c.1011G>A p.Trp337Ter p.W337* ENST00000288840 NM_005585.4 337 tgG/tgA 0 -SMAD7 UCSF GRCh37 18 46448254 46448254 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 25 64 0 ENST00000262158.2:c.769G>A p.Asp257Asn p.D257N ENST00000262158 NM_001190821.1 257 Gat/Aat 0 -SMAP2 UCSF GRCh37 1 40872408 40872408 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 47 88 0 ENST00000372718.3:c.104G>A p.Gly35Glu p.G35E ENST00000372718 NM_022733.2 35 gGg/gAg 0 -SMARCA4 UCSF GRCh37 19 11144135 11144135 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 120 85 31 0 ENST00000344626.4:c.3716C>T p.Ser1239Phe p.S1239F ENST00000344626 NM_003072.3 1239 tCc/tTc 0 -SMARCB1 UCSF GRCh37 22 24167504 24167504 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 38 58 0 ENST00000263121.7:c.888G>A p.Lys296= p.K296= ENST00000263121 NM_003073.3 296 aaG/aaA 0 -SMCR8 UCSF GRCh37 17 18220997 18220997 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 56 77 0 ENST00000406438.3:c.1894G>A p.Val632Met p.V632M ENST00000406438 NM_144775.2 632 Gtg/Atg 0 -SMG6 UCSF GRCh37 17 1972222 1972222 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 37 15 21 0 ENST00000263073.6:c.3685G>A p.Val1229Ile p.V1229I ENST00000263073 NM_017575.4 1229 Gtc/Atc 0 -SNAPC4 UCSF GRCh37 9 139292825 139292825 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 235 73 92 0 ENST00000298532.2:c.56G>A p.Arg19Lys p.R19K ENST00000298532 NM_003086.2 19 aGg/aAg 0 -SNAPC4 UCSF GRCh37 9 139282275 139282275 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 94 34 42 0 ENST00000298532.2:c.1149C>T p.Asp383= p.D383= ENST00000298532 NM_003086.2 383 gaC/gaT 0 -SNRNP200 UCSF GRCh37 2 96953181 96953181 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 53 84 0 ENST00000323853.5:c.3480G>A p.Glu1160= p.E1160= ENST00000323853 NM_014014.4 1160 gaG/gaA 0 -SNX13 UCSF GRCh37 7 17930075 17930075 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 86 64 72 0 ENST00000428135.3:c.351G>A p.Gln117= p.Q117= ENST00000428135 NM_015132.4 117 caG/caA 0 -SOCS2 UCSF GRCh37 12 93968767 93968767 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 38 93 0 ENST00000340600.2:c.409C>T p.Arg137Trp p.R137W ENST00000340600 NM_003877.4 137 Cgg/Tgg 0 -SORT1 UCSF GRCh37 1 109857328 109857328 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 29 20 0 ENST00000256637.6:c.2323G>A p.Val775Met p.V775M ENST00000256637 NM_002959.5 775 Gtg/Atg 0 -SOX11 UCSF GRCh37 2 5833235 5833235 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 13 21 8 0 ENST00000322002.3:c.382C>T p.Pro128Ser p.P128S ENST00000322002 NM_003108.3 128 Ccc/Tcc 0 -SP110 UCSF GRCh37 2 231042370 231042370 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 84 191 0 ENST00000358662.4:c.1474G>A p.Glu492Lys p.E492K ENST00000358662 NM_004509.3 492 Gag/Aag 0 -SPAG1 UCSF GRCh37 8 101251583 101251583 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 105 64 103 0 ENST00000251809.3:c.2231C>T p.Thr744Ile p.T744I ENST00000251809 NM_172218.2 744 aCa/aTa 0 -SPDYE3 UCSF GRCh37 7 99917195 99917195 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 288 130 256 0 ENST00000332397.6:c.1354G>A p.Ala452Thr p.A452T ENST00000332397 NM_001004351.4 452 Gcc/Acc 0 -SPHKAP UCSF GRCh37 2 228883799 228883799 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 34 45 0 ENST00000392056.3:c.1771C>T p.Pro591Ser p.P591S ENST00000392056 NM_001142644.1 591 Cct/Tct 0 -SPIN1 UCSF GRCh37 9 91083400 91083400 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 62 87 0 ENST00000375859.3:c.469G>A p.Ala157Thr p.A157T ENST00000375859 NM_006717.2 157 Gca/Aca 0 -SPINT1 UCSF GRCh37 15 41136919 41136919 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 12 9 0 ENST00000344051.4:c.167C>T p.Ala56Val p.A56V ENST00000344051 56 gCc/gTc 0 -SPOP UCSF GRCh37 17 47700133 47700133 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 71 39 87 0 ENST00000347630.2:c.40T>G p.Ser14Ala p.S14A ENST00000347630 NM_001007230.1 14 Tcg/Gcg 0 -SPR UCSF GRCh37 2 73118536 73118536 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 15 40 0 ENST00000234454.5:c.656G>A p.Arg219Gln p.R219Q ENST00000234454 NM_003124.4 219 cGa/cAa 0 -SPRR2D UCSF GRCh37 1 153012683 153012683 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 61 121 0 ENST00000360379.3:c.140C>T p.Pro47Leu p.P47L ENST00000360379 NM_006945.4 47 cCt/cTt 0 -SPTA1 UCSF GRCh37 1 158644362 158644362 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 158 103 91 0 ENST00000368147.4:c.1216G>A p.Glu406Lys p.E406K ENST00000368147 NM_003126.2 406 Gaa/Aaa 0 -SRCAP UCSF GRCh37 16 30735216 30735216 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 54 84 0 ENST00000262518.4:c.4471C>T p.Pro1491Ser p.P1491S ENST00000262518 NM_006662.2 1491 Ccc/Tcc 0 -SRD5A3 UCSF GRCh37 4 56230317 56230317 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 121 71 113 0 ENST00000264228.4:c.441C>T p.Cys147= p.C147= ENST00000264228 NM_024592.4 147 tgC/tgT 0 -SREBF2 UCSF GRCh37 22 42298982 42298982 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 8 9 8 0 ENST00000361204.4:c.2916G>A p.Gln972= p.Q972= ENST00000361204 NM_004599.3 972 caG/caA 0 -SRGAP1 UCSF GRCh37 12 64536317 64536317 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 52 124 0 ENST00000355086.3:c.3123G>A p.Met1041Ile p.M1041I ENST00000355086 NM_020762.2 1041 atG/atA 0 -SRGAP3 UCSF GRCh37 3 9057317 9057317 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 115 21 60 0 ENST00000383836.3:c.1777C>T p.Pro593Ser p.P593S ENST00000383836 NM_014850.3 593 Cct/Tct 0 -SRL UCSF GRCh37 16 4247874 4247874 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 11 43 0 ENST00000399609.3:c.302C>T p.Pro101Leu p.P101L ENST00000399609 NM_001098814.1 101 cCg/cTg 0 -SRM UCSF GRCh37 1 11118930 11118930 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 6 8 0 ENST00000376957.2:c.308G>A p.Gly103Glu p.G103E ENST00000376957 NM_003132.2 103 gGa/gAa 0 -SRRD UCSF GRCh37 22 26882013 26882013 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 40 49 0 ENST00000215917.7:c.234C>T p.Phe78= p.F78= ENST00000215917 NM_001013694.2 78 ttC/ttT 0 -SRRM2 UCSF GRCh37 16 2811898 2811898 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 203 114 126 0 ENST00000301740.8:c.1369C>T p.Pro457Ser p.P457S ENST00000301740 NM_016333.3 457 Ccc/Tcc 0 -SRRM2 UCSF GRCh37 16 2809654 2809654 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 37 29 72 0 ENST00000301740.8:c.825C>T p.Ser275= p.S275= ENST00000301740 NM_016333.3 275 tcC/tcT 0 -SRSF12 UCSF GRCh37 6 89808575 89808575 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 193 135 247 0 ENST00000452027.2:c.508C>T p.Pro170Ser p.P170S ENST00000452027 NM_080743.4 170 Cca/Tca 0 -SRSF9 UCSF GRCh37 12 120899861 120899861 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 42 34 0 ENST00000229390.3:c.627G>A p.Arg209= p.R209= ENST00000229390 NM_003769.2 209 agG/agA 0 -SS18L1 UCSF GRCh37 20 60737983 60737983 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 15 15 0 ENST00000331758.3:c.552C>T p.Asn184= p.N184= ENST00000331758 NM_198935.1 184 aaC/aaT 0 -SSC5D UCSF GRCh37 19 56029025 56029025 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 74 130 0 ENST00000389623.6:c.3382G>A p.Asp1128Asn p.D1128N ENST00000389623 NM_001144950.1 1128 Gac/Aac 0 -SSPO UCSF GRCh37 7 149528267 149528267 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 16 7 15 0 ENST00000378016.2:n.15186C>T *5062* ENST00000378016 0 -ST6GAL2 UCSF GRCh37 2 107423348 107423348 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 17 33 0 ENST00000361686.4:c.1376C>T p.Ser459Phe p.S459F ENST00000361686 NM_032528.2 459 tCc/tTc 0 -ST6GALNAC1 UCSF GRCh37 17 74621610 74621610 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 13 31 0 ENST00000156626.7:c.1606-1G>A p.X536_splice ENST00000156626 NM_018414.3 0 -ST6GALNAC5 UCSF GRCh37 1 77510220 77510220 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 242 124 100 0 ENST00000477717.1:c.593G>A p.Arg198Gln p.R198Q ENST00000477717 NM_030965.1 198 cGg/cAg 0 -STAC3 UCSF GRCh37 12 57643386 57643386 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 27 27 0 ENST00000332782.2:c.34C>T p.Pro12Ser p.P12S ENST00000332782 NM_145064.1 12 Ccc/Tcc 0 -STAG3 UCSF GRCh37 7 99798542 99798542 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 27 50 0 ENST00000317296.5:c.2011G>A p.Val671Ile p.V671I ENST00000317296 NM_012447.2 671 Gta/Ata 0 -STEAP3 UCSF GRCh37 2 120003184 120003184 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 27 41 0 ENST00000393106.2:c.112G>A p.Asp38Asn p.D38N ENST00000393106 NM_018234.2 38 Gac/Aac 0 -STK17A UCSF GRCh37 7 43647960 43647960 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 40 76 0 ENST00000319357.5:c.525C>T p.His175= p.H175= ENST00000319357 NM_004760.2 175 caC/caT 0 -STK17B UCSF GRCh37 2 197002250 197002250 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 44 87 0 ENST00000263955.4:c.1040G>A p.Ser347Asn p.S347N ENST00000263955 NM_004226.3 347 aGc/aAc 0 -STK36 UCSF GRCh37 2 219563972 219563972 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 67 44 53 0 ENST00000295709.3:c.3705G>A p.Gln1235= p.Q1235= ENST00000295709 NM_015690.4 1235 caG/caA 0 -STON2 UCSF GRCh37 14 81743681 81743681 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 59 61 0 ENST00000267540.2:c.1974C>T p.Asn658= p.N658= ENST00000267540 NM_033104.3 658 aaC/aaT 0 -STRAP UCSF GRCh37 12 16048406 16048406 + missense_variant Missense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 68 26 57 0 ENST00000419869.2:c.614C>G p.Ser205Cys p.S205C ENST00000419869 NM_007178.3 205 tCt/tGt 0 -STXBP3 UCSF GRCh37 1 109319021 109319021 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 19 23 0 ENST00000370008.3:c.660G>A p.Lys220= p.K220= ENST00000370008 NM_007269.2 220 aaG/aaA 0 -SUPT5H UCSF GRCh37 19 39960873 39960873 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 81 91 0 ENST00000432763.2:c.1489G>A p.Glu497Lys p.E497K ENST00000432763 NM_001111020.2 497 Gag/Aag 0 -SVEP1 UCSF GRCh37 9 113244691 113244691 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 49 70 0 ENST00000374469.1:c.2051C>T p.Thr684Ile p.T684I ENST00000374469 684 aCt/aTt 0 -SYMPK UCSF GRCh37 19 46357650 46357650 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 33 33 0 ENST00000245934.7:c.104G>A p.Arg35Lys p.R35K ENST00000245934 NM_004819.2 35 aGg/aAg 0 -SYNE1 UCSF GRCh37 6 152640094 152640094 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 30 49 0 ENST00000367255.5:c.16293C>T p.Ser5431= p.S5431= ENST00000367255 NM_182961.3 5431 agC/agT 0 -SYNE2 UCSF GRCh37 14 64518895 64518895 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 112 41 150 0 ENST00000344113.4:c.8264C>T p.Pro2755Leu p.P2755L ENST00000344113 NM_015180.4 2755 cCc/cTc 0 -SYNE2 UCSF GRCh37 14 64554542 64554542 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 37 72 0 ENST00000344113.4:c.11638G>A p.Glu3880Lys p.E3880K ENST00000344113 NM_015180.4 3880 Gaa/Aaa 0 -SYNE2 UCSF GRCh37 14 64608671 64608671 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 13 44 0 ENST00000344113.4:c.15171G>A p.Glu5057= p.E5057= ENST00000344113 NM_015180.4 5057 gaG/gaA 0 -SYNGR1 UCSF GRCh37 22 39770548 39770548 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 36 40 0 ENST00000328933.5:c.327C>T p.Ile109= p.I109= ENST00000328933 NM_004711.4 109 atC/atT 0 -SYNRG UCSF GRCh37 17 35930949 35930949 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 124 50 131 0 ENST00000339208.6:c.1134C>T p.Asn378= p.N378= ENST00000339208 NM_001163544.1 378 aaC/aaT 0 -SYTL4 UCSF GRCh37 X 99956471 99956471 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 42 96 0 ENST00000263033.5:c.309G>A p.Lys103= p.K103= ENST00000263033 NM_001129896.2 103 aaG/aaA 0 -TAAR6 UCSF GRCh37 6 132891711 132891711 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 116 65 127 0 ENST00000275198.1:c.251C>T p.Thr84Ile p.T84I ENST00000275198 NM_175067.1 84 aCt/aTt 0 -TAAR9 UCSF GRCh37 6 132860441 132860441 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 29 17 13 0 ENST00000434551.1:c.1013C>T p.Thr338Ile p.T338I ENST00000434551 NM_175057.3 338 aCt/aTt 0 -TACR3 UCSF GRCh37 4 104510962 104510962 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 104 80 137 0 ENST00000304883.2:c.1275G>A p.Arg425= p.R425= ENST00000304883 NM_001059.2 425 cgG/cgA 0 -TADA1 UCSF GRCh37 1 166831645 166831645 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 32 61 0 ENST00000367874.4:c.335G>A p.Arg112Lys p.R112K ENST00000367874 NM_053053.3 112 aGa/aAa 0 -TAF3 UCSF GRCh37 10 8056708 8056708 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 107 50 65 0 ENST00000344293.5:c.2784C>T p.Ala928= p.A928= ENST00000344293 NM_031923.3 928 gcC/gcT 0 -TAF5L UCSF GRCh37 1 229730455 229730455 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 143 83 66 0 ENST00000258281.2:c.1359G>A p.Trp453Ter p.W453* ENST00000258281 NM_014409.3 453 tgG/tgA 0 -TANC1 UCSF GRCh37 2 160035165 160035165 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 38 62 0 ENST00000263635.6:c.2001G>A p.Arg667= p.R667= ENST00000263635 NM_033394.2 667 agG/agA 0 -TANC2 UCSF GRCh37 17 61489467 61489467 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 46 73 0 ENST00000424789.2:c.3652C>T p.Leu1218Phe p.L1218F ENST00000424789 NM_025185.3 1218 Ctt/Ttt 0 -TAOK3 UCSF GRCh37 12 118619193 118619193 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 45 65 1 ENST00000392533.3:c.1549G>A p.Ala517Thr p.A517T ENST00000392533 NM_016281.3 517 Gct/Act 0 -TAPT1 UCSF GRCh37 4 16177816 16177816 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 89 56 69 0 ENST00000405303.2:c.1033G>A p.Val345Ile p.V345I ENST00000405303 NM_153365.2 345 Gta/Ata 0 -TARBP1 UCSF GRCh37 1 234556505 234556505 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 35 62 0 ENST00000040877.1:c.3498C>T p.His1166= p.H1166= ENST00000040877 NM_005646.3 1166 caC/caT 0 -TAS2R5 UCSF GRCh37 7 141490830 141490830 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 122 60 92 0 ENST00000247883.4:c.669C>T p.Ser223= p.S223= ENST00000247883 NM_018980.2 223 tcC/tcT 0 -TBC1D13 UCSF GRCh37 9 131568554 131568554 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 30 34 0 ENST00000372648.5:c.1101G>A p.Leu367= p.L367= ENST00000372648 NM_018201.3 367 ctG/ctA 0 -TBC1D14 UCSF GRCh37 4 6925123 6925123 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 126 75 91 0 ENST00000409757.4:c.7G>A p.Asp3Asn p.D3N ENST00000409757 NM_020773.2 3 Gat/Aat 0 -TBC1D15 UCSF GRCh37 12 72291654 72291654 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 43 76 0 ENST00000550746.1:c.1167G>A p.Gln389= p.Q389= ENST00000550746 NM_022771.4 389 caG/caA 0 -TBC1D17 UCSF GRCh37 19 50385388 50385388 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 188 96 101 0 ENST00000221543.5:c.618G>A p.Gln206= p.Q206= ENST00000221543 NM_024682.2 206 caG/caA 0 -TBC1D22B UCSF GRCh37 6 37250008 37250008 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 61 33 60 0 ENST00000373491.3:c.469C>T p.Leu157Phe p.L157F ENST00000373491 NM_017772.2 157 Ctc/Ttc 0 -TBC1D24 UCSF GRCh37 16 2546449 2546449 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 37 20 0 ENST00000293970.5:c.300G>A p.Gln100= p.Q100= ENST00000293970 NM_001199107.1 100 caG/caA 0 -TBK1 UCSF GRCh37 12 64879234 64879234 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 12 12 21 0 ENST00000331710.5:c.1190-1G>A p.X397_splice ENST00000331710 NM_013254.3 0 -TBL1X UCSF GRCh37 X 9652205 9652205 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 15 26 59 0 ENST00000217964.7:c.334G>A p.Glu112Lys p.E112K ENST00000217964 NM_005647.3 112 Gag/Aag 0 -TBL1XR1 UCSF GRCh37 3 176752054 176752054 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 50 45 59 0 ENST00000430069.1:c.1182T>G p.Ile394Met p.I394M ENST00000430069 394 atT/atG 0 -TBX6 UCSF GRCh37 16 30097950 30097950 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 10 16 0 ENST00000279386.2:c.980C>T p.Ala327Val p.A327V ENST00000279386 327 gCc/gTc 0 -TCF4 UCSF GRCh37 18 52924585 52924585 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 67 44 77 0 ENST00000356073.4:c.1107C>T p.Ala369= p.A369= ENST00000356073 NM_003199.2 369 gcC/gcT 0 -TCHH UCSF GRCh37 1 152080381 152080381 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 118 60 87 0 ENST00000368804.1:c.5312G>A p.Arg1771Lys p.R1771K ENST00000368804 NM_007113.3 1771 aGa/aAa 0 -TCHH UCSF GRCh37 1 152083503 152083503 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 195 128 83 0 ENST00000368804.1:c.2190G>A p.Arg730= p.R730= ENST00000368804 NM_007113.3 730 agG/agA 0 -TCP1 UCSF GRCh37 6 160200142 160200142 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 46 88 0 ENST00000321394.7:c.1606G>A p.Glu536Lys p.E536K ENST00000321394 NM_030752.2 536 Gaa/Aaa 0 -TCP11 UCSF GRCh37 6 35090045 35090045 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 40 91 0 ENST00000512012.1:c.427G>A p.Asp143Asn p.D143N ENST00000512012 143 Gac/Aac 0 -TCP11L2 UCSF GRCh37 12 106715328 106715328 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 63 25 58 0 ENST00000299045.3:c.479A>C p.Asp160Ala p.D160A ENST00000299045 NM_152772.1 160 gAc/gCc 0 -TDRD10 UCSF GRCh37 1 154515281 154515281 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 19 26 0 ENST00000368480.3:c.487G>A p.Val163Ile p.V163I ENST00000368480 163 Gtc/Atc 0 -TDRD9 UCSF GRCh37 14 104441851 104441851 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 62 120 0 ENST00000409874.4:c.972G>A p.Glu324= p.E324= ENST00000409874 NM_153046.2 324 gaG/gaA 0 -TEAD4 UCSF GRCh37 12 3129818 3129818 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 20 19 0 ENST00000359864.2:c.602G>A p.Gly201Glu p.G201E ENST00000359864 NM_003213.3 201 gGg/gAg 0 -TECPR1 UCSF GRCh37 7 97867907 97867907 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 39 79 0 ENST00000447648.2:c.949G>A p.Gly317Ser p.G317S ENST00000447648 NM_015395.2 317 Ggc/Agc 0 -TENC1 UCSF GRCh37 12 53453496 53453496 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 34 16 0 ENST00000314250.6:c.2071C>T p.Pro691Ser p.P691S ENST00000314250 NM_170754.2 691 Cca/Tca 0 -TEP1 UCSF GRCh37 14 20852280 20852280 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 52 23 35 0 ENST00000262715.5:c.3451G>A p.Asp1151Asn p.D1151N ENST00000262715 NM_007110.4 1151 Gac/Aac 0 -TERF2 UCSF GRCh37 16 69419376 69419376 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 141 57 56 0 ENST00000254942.3:c.393G>A p.Arg131= p.R131= ENST00000254942 NM_005652.4 131 agG/agA 0 -TET2 UCSF GRCh37 4 106158049 106158049 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 43 94 0 ENST00000380013.4:c.2950G>A p.Glu984Lys p.E984K ENST00000380013 NM_001127208.2 984 Gaa/Aaa 0 -TEX11 UCSF GRCh37 X 69830352 69830352 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 62 99 0 ENST00000344304.3:c.1837+1G>A p.X613_splice ENST00000344304 0 -TEX15 UCSF GRCh37 8 30706062 30706062 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 24 96 0 ENST00000256246.2:c.472C>T p.Pro158Ser p.P158S ENST00000256246 NM_031271.3 158 Cca/Tca 0 -TFAP2E UCSF GRCh37 1 36056336 36056336 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 23 8 13 0 ENST00000373235.3:c.1006G>A p.Gly336Arg p.G336R ENST00000373235 NM_178548.3 336 Ggg/Agg 0 -TFB2M UCSF GRCh37 1 246711846 246711846 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 37 24 44 0 ENST00000366514.4:c.858+1G>A p.X286_splice ENST00000366514 NM_022366.2 0 -TGM2 UCSF GRCh37 20 36770591 36770591 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 26 52 0 ENST00000361475.2:c.870C>T p.Cys290= p.C290= ENST00000361475 NM_004613.2 290 tgC/tgT 0 -TGM7 UCSF GRCh37 15 43571977 43571977 + synonymous_variant Silent SNP C C A NOVEL P05_Rec Untested WXS Illumina HiSeq 169 24 57 1 ENST00000452443.2:c.1524G>T p.Leu508= p.L508= ENST00000452443 NM_052955.2 508 ctG/ctT 0 -TH1L UCSF GRCh37 20 57568578 57568578 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 27 60 0 ENST00000602795.1:c.1473C>T p.Ser491= p.S491= ENST00000602795 NM_198976.2 491 tcC/tcT 0 -THBS1 UCSF GRCh37 15 39880853 39880853 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 15 22 29 0 ENST00000260356.5:c.1598G>A p.Gly533Asp p.G533D ENST00000260356 NM_003246.2 533 gGt/gAt 0 -THNSL1 UCSF GRCh37 10 25313108 25313108 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 67 34 47 0 ENST00000376356.4:c.956G>A p.Gly319Glu p.G319E ENST00000376356 NM_024838.4 319 gGg/gAg 0 -THRAP3 UCSF GRCh37 1 36757032 36757032 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 37 60 0 ENST00000354618.5:c.1803C>T p.Asn601= p.N601= ENST00000354618 NM_005119.3 601 aaC/aaT 0 -THRSP UCSF GRCh37 11 77775109 77775109 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 59 39 55 0 ENST00000281030.2:c.182C>T p.Thr61Ile p.T61I ENST00000281030 NM_003251.3 61 aCc/aTc 0 -THSD1 UCSF GRCh37 13 52952735 52952735 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 27 47 42 0 ENST00000258613.4:c.1370C>T p.Pro457Leu p.P457L ENST00000258613 NM_018676.3 457 cCc/cTc 0 -THSD1 UCSF GRCh37 13 52952267 52952267 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 62 27 70 0 ENST00000258613.4:c.1838A>C p.Gln613Pro p.Q613P ENST00000258613 NM_018676.3 613 cAg/cCg 0 -TIMELESS UCSF GRCh37 12 56818588 56818588 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 48 25 49 0 ENST00000553532.1:c.1826C>T p.Ala609Val p.A609V ENST00000553532 609 gCt/gTt 0 -TIMELESS UCSF GRCh37 12 56815272 56815272 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 100 37 91 0 ENST00000553532.1:c.2731C>T p.Leu911= p.L911= ENST00000553532 911 Ctg/Ttg 0 -TJP2 UCSF GRCh37 9 71827508 71827508 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 18 66 0 ENST00000377245.4:c.105C>T p.Thr35= p.T35= ENST00000377245 NM_004817.3 35 acC/acT 0 -TLK1 UCSF GRCh37 2 171917607 171917607 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 30 32 0 ENST00000431350.2:c.390G>A p.Gln130= p.Q130= ENST00000431350 130 caG/caA 0 -TLL2 UCSF GRCh37 10 98133449 98133449 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 15 36 50 0 ENST00000357947.3:c.2566C>T p.Pro856Ser p.P856S ENST00000357947 NM_012465.3 856 Cca/Tca 0 -TLR9 UCSF GRCh37 3 52257979 52257979 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 50 57 0 ENST00000360658.2:c.353C>T p.Thr118Ile p.T118I ENST00000360658 NM_017442.3 118 aCc/aTc 0 -TM7SF2 UCSF GRCh37 11 64880745 64880745 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 32 14 0 ENST00000279263.7:c.358G>A p.Gly120Arg p.G120R ENST00000279263 NM_003273.3 120 Ggg/Agg 0 -TMC3 UCSF GRCh37 15 81627077 81627077 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 35 67 0 ENST00000359440.5:c.2443G>A p.Glu815Lys p.E815K ENST00000359440 NM_001080532.1 815 Gag/Aag 0 -TMCO7 UCSF GRCh37 16 69056828 69056828 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 89 33 55 0 ENST00000261778.1:c.2940C>T p.Asn980= p.N980= ENST00000261778 NM_024562.1 980 aaC/aaT 0 -TMED10 UCSF GRCh37 14 75614367 75614367 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 105 32 54 0 ENST00000303575.4:c.411G>A p.Glu137= p.E137= ENST00000303575 NM_006827.5 137 gaG/gaA 0 -TMEM102 UCSF GRCh37 17 7340310 7340310 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 27 20 8 0 ENST00000323206.1:c.1012G>A p.Gly338Ser p.G338S ENST00000323206 NM_178518.2 338 Ggt/Agt 0 -TMEM130 UCSF GRCh37 7 98457806 98457806 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 29 12 24 0 ENST00000416379.2:c.547G>A p.Asp183Asn p.D183N ENST00000416379 183 Gac/Aac 0 -TMEM132D UCSF GRCh37 12 129559485 129559485 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 43 57 0 ENST00000422113.2:c.2235C>T p.Ile745= p.I745= ENST00000422113 NM_133448.2 745 atC/atT 0 -TMEM154 UCSF GRCh37 4 153573939 153573939 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 36 75 0 ENST00000304385.3:c.205C>T p.Pro69Ser p.P69S ENST00000304385 NM_152680.2 69 Ccg/Tcg 0 -TMEM168 UCSF GRCh37 7 112424274 112424274 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 109 35 76 0 ENST00000312814.6:c.607C>T p.Pro203Ser p.P203S ENST00000312814 NM_001287497.1 203 Cca/Tca 0 -TMEM47 UCSF GRCh37 X 34657367 34657367 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 5 10 26 0 ENST00000275954.3:c.364G>A p.Ala122Thr p.A122T ENST00000275954 NM_031442.3 122 Gca/Aca 0 -TMEM48 UCSF GRCh37 1 54262697 54262697 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 36 66 0 ENST00000371429.3:c.1343G>A p.Gly448Glu p.G448E ENST00000371429 NM_001168551.1 448 gGg/gAg 0 -TMEM5 UCSF GRCh37 12 64202714 64202714 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 24 79 0 ENST00000261234.6:c.1174C>T p.Leu392Phe p.L392F ENST00000261234 NM_014254.2 392 Ctc/Ttc 0 -TMEM63A UCSF GRCh37 1 226062017 226062017 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 35 37 0 ENST00000366835.3:c.237C>T p.Gly79= p.G79= ENST00000366835 NM_014698.2 79 ggC/ggT 0 -TMEM63C UCSF GRCh37 14 77706066 77706066 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 23 10 10 0 ENST00000298351.4:c.927G>A p.Lys309= p.K309= ENST00000298351 NM_020431.2 309 aaG/aaA 0 -TMEM66 UCSF GRCh37 8 29927334 29927334 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 35 97 0 ENST00000256255.6:c.524G>A p.Gly175Glu p.G175E ENST00000256255 NM_016127.4 175 gGa/gAa 0 -TMEM67 UCSF GRCh37 8 94793962 94793962 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 22 26 0 ENST00000453321.3:c.1055G>A p.Gly352Asp p.G352D ENST00000453321 NM_153704.5 352 gGt/gAt 0 -TMEM8A UCSF GRCh37 16 422611 422611 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 70 46 0 ENST00000431232.2:c.2019G>A p.Trp673Ter p.W673* ENST00000431232 NM_021259.2 673 tgG/tgA 0 -TMIGD1 UCSF GRCh37 17 28652071 28652071 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 94 57 89 0 ENST00000328886.4:c.403G>A p.Glu135Lys p.E135K ENST00000328886 NM_206832.1 135 Gaa/Aaa 0 -TMIGD2 UCSF GRCh37 19 4297985 4297985 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 124 89 79 0 ENST00000301272.2:c.404C>T p.Pro135Leu p.P135L ENST00000301272 NM_144615.2 135 cCa/cTa 0 -TMOD4 UCSF GRCh37 1 151146957 151146957 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 147 76 106 0 ENST00000295314.4:c.190G>A p.Asp64Asn p.D64N ENST00000295314 NM_013353.2 64 Gac/Aac 0 -TMPRSS11D UCSF GRCh37 4 68703921 68703921 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 33 55 0 ENST00000283916.6:c.444C>T p.Asn148= p.N148= ENST00000283916 NM_004262.2 148 aaC/aaT 0 -TMPRSS15 UCSF GRCh37 21 19744516 19744516 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 45 23 51 0 ENST00000284885.3:c.658A>C p.Met220Leu p.M220L ENST00000284885 NM_002772.2 220 Atg/Ctg 0 -TMPRSS7 UCSF GRCh37 3 111797718 111797718 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 37 59 0 ENST00000452346.2:c.2354C>T p.Ala785Val p.A785V ENST00000452346 785 gCc/gTc 0 -TMX3 UCSF GRCh37 18 66364480 66364480 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 21 6 9 0 ENST00000299608.2:c.553G>A p.Glu185Lys p.E185K ENST00000299608 NM_019022.3 185 Gaa/Aaa 0 -TNK1 UCSF GRCh37 17 7292202 7292202 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 13 15 0 ENST00000576812.1:c.1887G>A p.Lys629= p.K629= ENST00000576812 NM_001251902.1 629 aaG/aaA 0 -TNKS1BP1 UCSF GRCh37 11 57077016 57077016 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 77 60 0 ENST00000358252.3:c.3169G>A p.Val1057Met p.V1057M ENST00000358252 NM_033396.2 1057 Gtg/Atg 0 -TNPO2 UCSF GRCh37 19 12826505 12826505 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 31 41 0 ENST00000425528.1:c.374C>T p.Pro125Leu p.P125L ENST00000425528 125 cCc/cTc 0 -TNPO2 UCSF GRCh37 19 12814595 12814595 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 11 26 0 ENST00000425528.1:c.2043G>A p.Arg681= p.R681= ENST00000425528 681 cgG/cgA 0 -TNRC6A UCSF GRCh37 16 24801750 24801750 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 58 88 0 ENST00000395799.3:c.1787G>A p.Gly596Glu p.G596E ENST00000395799 NM_014494.2 596 gGa/gAa 0 -TNS3 UCSF GRCh37 7 47408592 47408592 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 111 40 35 1 ENST00000311160.9:c.1651C>T p.Arg551Trp p.R551W ENST00000311160 NM_022748.11 551 Cgg/Tgg 0 -TOMM7 UCSF GRCh37 7 22862346 22862346 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 197 64 75 0 ENST00000358435.4:c.53G>A p.Gly18Glu p.G18E ENST00000358435 NM_019059.3 18 gGg/gAg 0 -TONSL UCSF GRCh37 8 145661746 145661746 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 32 27 0 ENST00000409379.3:c.2070G>A p.Glu690= p.E690= ENST00000409379 NM_013432.4 690 gaG/gaA 0 -TOP1 UCSF GRCh37 20 39729897 39729897 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 46 77 0 ENST00000361337.2:c.1212C>T p.Val404= p.V404= ENST00000361337 NM_003286.2 404 gtC/gtT 0 -TOP1MT UCSF GRCh37 8 144403488 144403488 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 28 16 0 ENST00000329245.4:c.1029C>T p.Leu343= p.L343= ENST00000329245 NM_052963.2 343 ctC/ctT 0 -TOP2B UCSF GRCh37 3 25650771 25650771 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 16 35 0 ENST00000264331.4:c.3996G>A p.Arg1332= p.R1332= ENST00000264331 1332 cgG/cgA 0 -TP53 UCSF GRCh37 17 7578211 7578211 + missense_variant Missense_Mutation SNP C C G NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 41 23 46 0 ENST00000269305.4:c.638G>C p.Arg213Pro p.R213P ENST00000269305 NM_001126112.2 213 cGa/cCa 0 -TP53 UCSF GRCh37 17 7578275 7578275 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 46 31 43 0 ENST00000269305.4:c.574C>T p.Gln192Ter p.Q192* ENST00000269305 NM_001126112.2 192 Cag/Tag 0 -TP53BP2 UCSF GRCh37 1 223971997 223971997 + synonymous_variant Silent SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 97 11 84 0 ENST00000343537.7:c.3183C>A p.Gly1061= p.G1061= ENST00000343537 NM_001031685.2 1061 ggC/ggA 0 -TP53I13 UCSF GRCh37 17 27898940 27898940 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 99 65 67 0 ENST00000301057.7:c.378C>T p.Ala126= p.A126= ENST00000301057 NM_138349.2 126 gcC/gcT 0 -TP53INP1 UCSF GRCh37 8 95953109 95953109 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 38 60 0 ENST00000342697.4:c.61C>T p.Pro21Ser p.P21S ENST00000342697 NM_033285.3 21 Cca/Tca 0 -TP63 UCSF GRCh37 3 189587118 189587118 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 37 16 45 0 ENST00000264731.3:c.1135C>T p.Arg379Cys p.R379C ENST00000264731 NM_003722.4 379 Cgt/Tgt 0 -TPM3 UCSF GRCh37 1 154164488 154164488 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 43 84 0 ENST00000368530.2:c.7G>A p.Glu3Lys p.E3K ENST00000368530 NM_152263.3 3 Gag/Aag 0 -TPM3 UCSF GRCh37 1 154163740 154163740 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 68 31 82 0 ENST00000368530.2:c.165G>A p.Glu55= p.E55= ENST00000368530 NM_152263.3 55 gaG/gaA 0 -TPR UCSF GRCh37 1 186331971 186331971 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 31 45 0 ENST00000367478.4:c.694G>A p.Glu232Lys p.E232K ENST00000367478 NM_003292.2 232 Gag/Aag 0 -TPTE UCSF GRCh37 21 10907015 10907015 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 132 20 75 0 ENST00000361285.4:c.1546G>A p.Asp516Asn p.D516N ENST00000361285 NM_199261.2 516 Gat/Aat 0 -TRAF3 UCSF GRCh37 14 103371743 103371743 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 104 12 40 0 ENST00000392745.2:c.1329G>A p.Gln443= p.Q443= ENST00000392745 443 caG/caA 0 -TRAM1L1 UCSF GRCh37 4 118006308 118006308 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 49 56 0 ENST00000310754.4:c.242C>T p.Ala81Val p.A81V ENST00000310754 NM_152402.2 81 gCc/gTc 0 -TRDN UCSF GRCh37 6 123581772 123581772 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 19 41 0 ENST00000334268.4:c.1816G>A p.Glu606Lys p.E606K ENST00000334268 606 Gaa/Aaa 0 -TRERF1 UCSF GRCh37 6 42224797 42224797 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 41 88 0 ENST00000372922.4:c.2380C>T p.Leu794Phe p.L794F ENST00000372922 NM_033502.2 794 Ctc/Ttc 0 -TRIM16 UCSF GRCh37 17 15554749 15554749 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 88 63 0 ENST00000336708.7:c.175G>A p.Asp59Asn p.D59N ENST00000336708 NM_006470.3 59 Gac/Aac 0 -TRIM28 UCSF GRCh37 19 59061156 59061156 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 64 69 0 ENST00000253024.5:c.2035G>A p.Asp679Asn p.D679N ENST00000253024 NM_005762.2 679 Gat/Aat 0 -TRIM3 UCSF GRCh37 11 6472289 6472289 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 10 16 27 0 ENST00000345851.3:c.1703C>T p.Thr568Ile p.T568I ENST00000345851 NM_033278.3 568 aCc/aTc 0 -TRIM42 UCSF GRCh37 3 140419730 140419730 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 17 43 0 ENST00000286349.3:c.2086G>A p.Val696Met p.V696M ENST00000286349 NM_152616.4 696 Gtg/Atg 0 -TRIM50 UCSF GRCh37 7 72732893 72732893 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 135 50 65 0 ENST00000333149.2:c.654C>T p.Thr218= p.T218= ENST00000333149 NM_001281450.1 218 acC/acT 0 -TRIM50 UCSF GRCh37 7 72732686 72732686 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 107 39 68 0 ENST00000333149.2:c.749G>A p.Arg250Lys p.R250K ENST00000333149 NM_001281450.1 250 aGa/aAa 0 -TRIM56 UCSF GRCh37 7 100732393 100732393 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 188 54 41 0 ENST00000306085.6:c.1800G>A p.Gly600= p.G600= ENST00000306085 NM_030961.1 600 ggG/ggA 0 -TRIM60 UCSF GRCh37 4 165962326 165962326 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 47 104 0 ENST00000341062.5:c.1102C>T p.Gln368Ter p.Q368* ENST00000341062 368 Caa/Taa 0 -TRIM67 UCSF GRCh37 1 231299572 231299572 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 15 9 8 0 ENST00000366653.5:c.857G>A p.Gly286Asp p.G286D ENST00000366653 286 gGc/gAc 0 -TRIOBP UCSF GRCh37 22 38121128 38121128 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 137 78 165 0 ENST00000406386.3:c.2565G>A p.Gln855= p.Q855= ENST00000406386 NM_001039141.2 855 caG/caA 0 -TRMT12 UCSF GRCh37 8 125463712 125463712 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 78 76 0 ENST00000328599.3:c.544G>A p.Asp182Asn p.D182N ENST00000328599 NM_017956.3 182 Gat/Aat 0 -TRPA1 UCSF GRCh37 8 72973889 72973889 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 50 83 0 ENST00000262209.4:c.915C>T p.Thr305= p.T305= ENST00000262209 NM_007332.2 305 acC/acT 0 -TRPC3 UCSF GRCh37 4 122853901 122853901 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 98 82 33 0 ENST00000379645.3:c.512A>C p.Asn171Thr p.N171T ENST00000379645 NM_001130698.1 171 aAc/aCc 0 -TRPM2 UCSF GRCh37 21 45815341 45815341 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 89 35 67 0 ENST00000300482.5:c.1839C>T p.Gly613= p.G613= ENST00000300482 613 ggC/ggT 0 -TRPM3 UCSF GRCh37 9 73376591 73376591 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 35 37 55 0 ENST00000377110.3:c.1198A>G p.Thr400Ala p.T400A ENST00000377110 400 Act/Gct 0 -TRPM3 UCSF GRCh37 9 73426129 73426129 + intron_variant Intron SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 22 19 0 ENST00000377110.3:c.973+16634C>T *325* ENST00000377110 0 -TRPM6 UCSF GRCh37 9 77400854 77400854 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 151 41 108 0 ENST00000360774.1:c.2855G>A p.Arg952Gln p.R952Q ENST00000360774 NM_017662.4 952 cGg/cAg 0 -TRPM6 UCSF GRCh37 9 77418721 77418721 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 97 52 94 0 ENST00000360774.1:c.1720T>C p.Tyr574His p.Y574H ENST00000360774 NM_017662.4 574 Tac/Cac 0 -TRPV2 UCSF GRCh37 17 16320991 16320991 + synonymous_variant Silent SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 54 21 49 0 ENST00000338560.7:c.9A>C p.Ser3= p.S3= ENST00000338560 NM_016113.4 3 tcA/tcC 0 -TRRAP UCSF GRCh37 7 98579453 98579453 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 17 11 13 0 ENST00000359863.4:c.8675C>T p.Ala2892Val p.A2892V ENST00000359863 NM_001244580.1 2892 gCc/gTc 0 -TSGA10IP UCSF GRCh37 11 65721163 65721163 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 42 32 0 ENST00000532620.1:n.1508G>A *503* ENST00000532620 0 -TSHZ2 UCSF GRCh37 20 51871740 51871740 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 124 78 107 0 ENST00000371497.5:c.1743G>A p.Lys581= p.K581= ENST00000371497 NM_173485.5 581 aaG/aaA 0 -TSHZ3 UCSF GRCh37 19 31768537 31768537 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 42 49 0 ENST00000240587.4:c.2162C>T p.Pro721Leu p.P721L ENST00000240587 NM_020856.2 721 cCt/cTt 0 -TSPAN12 UCSF GRCh37 7 120428745 120428745 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 237 123 118 0 ENST00000222747.3:c.819T>C p.Cys273= p.C273= ENST00000222747 NM_012338.3 273 tgT/tgC 0 -TSSK3 UCSF GRCh37 1 32829360 32829360 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 38 50 0 ENST00000373534.3:c.310G>A p.Gly104Arg p.G104R ENST00000373534 NM_052841.3 104 Ggg/Agg 0 -TTBK1 UCSF GRCh37 6 43220535 43220535 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 23 44 0 ENST00000259750.4:c.167C>T p.Thr56Ile p.T56I ENST00000259750 NM_032538.1 56 aCc/aTc 0 -TTC21B UCSF GRCh37 2 166747022 166747022 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 33 41 0 ENST00000243344.7:c.3230G>A p.Gly1077Asp p.G1077D ENST00000243344 NM_024753.4 1077 gGt/gAt 0 -TTC3 UCSF GRCh37 21 38572625 38572625 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 17 34 0 ENST00000354749.2:c.5943G>A p.Gly1981= p.G1981= ENST00000354749 1981 ggG/ggA 0 -SKIC3 UCSF GRCh37 5 94852056 94852056 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 21 43 0 ENST00000358746.2:c.2634+1G>A p.X878_splice ENST00000358746 NM_014639.3 0 -TTC7A UCSF GRCh37 2 47205951 47205951 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 63 125 0 ENST00000319190.5:c.669G>A p.Ser223= p.S223= ENST00000319190 NM_020458.2 223 tcG/tcA 0 -TTC7A UCSF GRCh37 2 47222302 47222302 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 17 53 0 ENST00000319190.5:c.1029G>A p.Glu343= p.E343= ENST00000319190 NM_020458.2 343 gaG/gaA 0 -TTN UCSF GRCh37 2 179436688 179436688 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 154 74 98 0 ENST00000591111.1:c.69248C>T p.Thr23083Ile p.T23083I ENST00000591111 23083 aCt/aTt 0 -TTN UCSF GRCh37 2 179438831 179438831 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 176 92 164 0 ENST00000591111.1:c.67105C>T p.Pro22369Ser p.P22369S ENST00000591111 22369 Cca/Tca 0 -TTN UCSF GRCh37 2 179464157 179464157 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 140 106 141 0 ENST00000591111.1:c.51440C>T p.Pro17147Leu p.P17147L ENST00000591111 17147 cCa/cTa 0 -TTN UCSF GRCh37 2 179448415 179448415 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 95 45 64 0 ENST00000591111.1:c.60571T>C p.Phe20191Leu p.F20191L ENST00000591111 20191 Ttt/Ctt 0 -TTYH2 UCSF GRCh37 17 72233571 72233571 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 32 64 0 ENST00000269346.4:c.553C>T p.Leu185Phe p.L185F ENST00000269346 NM_032646.5 185 Ctc/Ttc 0 -TUBA3D UCSF GRCh37 2 132237810 132237810 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 159 48 136 0 ENST00000321253.6:c.544G>A p.Val182Met p.V182M ENST00000321253 NM_080386.3 182 Gtg/Atg 0 -TUBA8 UCSF GRCh37 22 18607059 18607059 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 22 27 0 ENST00000330423.3:c.363C>T p.Arg121= p.R121= ENST00000330423 NM_018943.2 121 cgC/cgT 0 -TUBB1 UCSF GRCh37 20 57599701 57599701 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 91 68 80 0 ENST00000217133.1:c.1219G>A p.Glu407Lys p.E407K ENST00000217133 NM_030773.3 407 Gaa/Aaa 0 -TUBB6 UCSF GRCh37 18 12325470 12325470 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 182 109 92 0 ENST00000317702.5:c.682C>T p.Leu228= p.L228= ENST00000317702 228 Ctg/Ttg 0 -TUBG1 UCSF GRCh37 17 40762482 40762482 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 87 20 76 0 ENST00000251413.3:c.204C>T p.Asp68= p.D68= ENST00000251413 NM_001070.4 68 gaC/gaT 0 -TUT1 UCSF GRCh37 11 62349040 62349040 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 19 27 0 ENST00000476907.1:c.407C>T p.Ser136Phe p.S136F ENST00000476907 136 tCc/tTc 0 -TUT1 UCSF GRCh37 11 62349173 62349173 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 15 14 8 0 ENST00000476907.1:c.274G>A p.Gly92Arg p.G92R ENST00000476907 92 Gga/Aga 0 -TXNDC15 UCSF GRCh37 5 134223596 134223596 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 23 32 0 ENST00000358387.4:c.315G>A p.Val105= p.V105= ENST00000358387 NM_024715.3 105 gtG/gtA 0 -TXNIP UCSF GRCh37 1 145441183 145441183 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 44 77 0 ENST00000369317.4:c.1141G>A p.Val381Met p.V381M ENST00000369317 NM_006472.4 381 Gtg/Atg 0 -TYW1B UCSF GRCh37 7 72178617 72178617 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 160 81 99 0 ENST00000435769.2:c.1333C>T p.Leu445Phe p.L445F ENST00000435769 NM_001145440.1 445 Ctt/Ttt 0 -U2SURP UCSF GRCh37 3 142739511 142739511 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 102 83 146 0 ENST00000473835.2:c.709G>A p.Asp237Asn p.D237N ENST00000473835 NM_001080415.1 237 Gat/Aat 0 -U2SURP UCSF GRCh37 3 142741787 142741787 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 84 41 74 0 ENST00000473835.2:c.1111G>A p.Glu371Lys p.E371K ENST00000473835 NM_001080415.1 371 Gaa/Aaa 0 -UACA UCSF GRCh37 15 70960077 70960077 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 77 120 0 ENST00000322954.6:c.2946G>A p.Lys982= p.K982= ENST00000322954 NM_018003.2 982 aaG/aaA 0 -UBA2 UCSF GRCh37 19 34957828 34957828 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 19 45 0 ENST00000246548.4:c.1650C>T p.Ala550= p.A550= ENST00000246548 NM_005499.2 550 gcC/gcT 0 -UBE2D1 UCSF GRCh37 10 60127692 60127692 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 26 65 0 ENST00000373910.4:c.314C>T p.Ser105Phe p.S105F ENST00000373910 NM_003338.4 105 tCc/tTc 0 -UBE2H UCSF GRCh37 7 129592377 129592377 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 138 52 33 0 ENST00000355621.3:c.19G>A p.Gly7Ser p.G7S ENST00000355621 NM_003344.3 7 Ggc/Agc 0 -UBE3A UCSF GRCh37 15 25616065 25616065 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 33 51 0 ENST00000397954.2:c.1265G>A p.Gly422Asp p.G422D ENST00000397954 422 gGt/gAt 0 -UBE3B UCSF GRCh37 12 109947520 109947520 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 116 44 62 0 ENST00000342494.3:c.1741+1G>A p.X581_splice ENST00000342494 NM_130466.3 0 -UBE3C UCSF GRCh37 7 157009665 157009665 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 23 28 0 ENST00000348165.5:c.1914G>A p.Lys638= p.K638= ENST00000348165 NM_014671.2 638 aaG/aaA 0 -UBE4A UCSF GRCh37 11 118260552 118260552 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 73 96 0 ENST00000252108.3:c.2700C>T p.Asp900= p.D900= ENST00000252108 NM_001204077.1 900 gaC/gaT 0 -UBE4B UCSF GRCh37 1 10211387 10211387 + stop_gained Nonsense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 56 37 59 0 ENST00000343090.6:c.2694C>G p.Tyr898Ter p.Y898* ENST00000343090 NM_001105562.2 898 taC/taG 0 -UBQLN4 UCSF GRCh37 1 156021538 156021538 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 25 61 0 ENST00000368309.3:c.219G>A p.Lys73= p.K73= ENST00000368309 NM_020131.3 73 aaG/aaA 0 -UBR2 UCSF GRCh37 6 42657402 42657402 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 153 80 122 0 ENST00000372899.1:c.5120G>A p.Gly1707Glu p.G1707E ENST00000372899 NM_015255.2 1707 gGa/gAa 0 -UBR4 UCSF GRCh37 1 19454142 19454142 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 137 77 114 0 ENST00000375254.3:c.9203C>T p.Ser3068Phe p.S3068F ENST00000375254 NM_020765.2 3068 tCt/tTt 0 -UFL1 UCSF GRCh37 6 97001376 97001376 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 15 38 0 ENST00000369278.4:c.2382G>A p.Glu794= p.E794= ENST00000369278 NM_015323.4 794 gaG/gaA 0 -UGDH UCSF GRCh37 4 39511484 39511484 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 36 37 0 ENST00000316423.6:c.707C>T p.Ser236Phe p.S236F ENST00000316423 NM_001184701.1 236 tCc/tTc 0 -UGGT1 UCSF GRCh37 2 128877945 128877945 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 104 74 101 0 ENST00000259253.6:c.888C>T p.Asp296= p.D296= ENST00000259253 NM_020120.3 296 gaC/gaT 0 -UHRF1 UCSF GRCh37 19 4954743 4954743 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 57 33 0 ENST00000592666.1:n.2615G>A *872* ENST00000592666 0 -ULK3 UCSF GRCh37 15 75132638 75132638 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 9 12 11 0 ENST00000440863.2:c.633C>T p.Pro211= p.P211= ENST00000440863 NM_001099436.1 211 ccC/ccT 0 -UMODL1 UCSF GRCh37 21 43531503 43531503 + intron_variant Intron SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 39 19 0 ENST00000408910.2:c.1900-113G>A *634* ENST00000408910 NM_001004416.2 0 -UPF2 UCSF GRCh37 10 11984663 11984663 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 27 49 0 ENST00000356352.2:c.3378+1G>A p.X1126_splice ENST00000356352 0 -USH2A UCSF GRCh37 1 215848163 215848163 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 27 73 0 ENST00000307340.3:c.13090C>T p.Leu4364Phe p.L4364F ENST00000307340 NM_206933.2 4364 Ctt/Ttt 0 -USP1 UCSF GRCh37 1 62910585 62910585 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 99 57 92 0 ENST00000339950.4:c.734G>A p.Gly245Asp p.G245D ENST00000339950 NM_003368.4 245 gGt/gAt 0 -USP2 UCSF GRCh37 11 119227929 119227929 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 6 11 11 0 ENST00000260187.2:c.1698G>A p.Gly566= p.G566= ENST00000260187 NM_004205.4 566 ggG/ggA 0 -USP24 UCSF GRCh37 1 55591413 55591413 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 56 90 0 ENST00000294383.6:c.3654G>A p.Met1218Ile p.M1218I ENST00000294383 NM_015306.2 1218 atG/atA 0 -USP24 UCSF GRCh37 1 55612626 55612626 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 160 68 117 0 ENST00000294383.6:c.2226G>A p.Gln742= p.Q742= ENST00000294383 NM_015306.2 742 caG/caA 0 -USP28 UCSF GRCh37 11 113700020 113700020 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 38 75 0 ENST00000003302.4:c.958G>A p.Val320Ile p.V320I ENST00000003302 NM_020886.2 320 Gta/Ata 0 -USP35 UCSF GRCh37 11 77907395 77907395 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 29 12 0 ENST00000529308.1:c.104G>A p.Arg35His p.R35H ENST00000529308 NM_020798.2 35 cGt/cAt 0 -USP35 UCSF GRCh37 11 77921413 77921413 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 157 77 37 0 ENST00000529308.1:c.2512G>A p.Ala838Thr p.A838T ENST00000529308 NM_020798.2 838 Gct/Act 0 -USP37 UCSF GRCh37 2 219319679 219319679 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 87 49 82 0 ENST00000258399.3:c.2914G>A p.Gly972Arg p.G972R ENST00000258399 NM_020935.2 972 Ggg/Agg 0 -USP46 UCSF GRCh37 4 53492238 53492238 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 215 27 107 0 ENST00000441222.3:c.508G>A p.Glu170Lys p.E170K ENST00000441222 NM_022832.3 170 Gag/Aag 0 -USP6 UCSF GRCh37 17 5073988 5073988 + synonymous_variant Silent SNP C C T snp132_rs16964010 P05_Rec Untested WXS Illumina HiSeq 104 74 148 0 ENST00000250066.6:c.3732C>T p.Ser1244= p.S1244= ENST00000250066 NM_004505.2 1244 agC/agT 0 -USP6NL UCSF GRCh37 10 11523793 11523793 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 127 69 134 0 ENST00000609104.1:c.1054G>A p.Ala352Thr p.A352T ENST00000609104 NM_014688.2 352 Gca/Aca 0 -USPL1 UCSF GRCh37 13 31227426 31227426 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 67 95 0 ENST00000255304.4:c.1380G>A p.Trp460Ter p.W460* ENST00000255304 NM_005800.4 460 tgG/tgA 0 -UTRN UCSF GRCh37 6 144863953 144863953 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 9 14 0 ENST00000367545.3:c.6542C>T p.Thr2181Ile p.T2181I ENST00000367545 NM_007124.2 2181 aCc/aTc 0 -VARS2 UCSF GRCh37 6 30890318 30890318 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 84 56 91 0 ENST00000321897.5:c.2024G>A p.Gly675Glu p.G675E ENST00000321897 675 gGg/gAg 0 -VAV2 UCSF GRCh37 9 136635609 136635609 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 131 46 33 0 ENST00000371850.3:c.2238C>T p.Tyr746= p.Y746= ENST00000371850 NM_001134398.1 746 taC/taT 0 -VIL1 UCSF GRCh37 2 219300072 219300072 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 14 31 0 ENST00000248444.5:c.1741G>A p.Glu581Lys p.E581K ENST00000248444 NM_007127.2 581 Gag/Aag 0 -VIPAR UCSF GRCh37 14 77917622 77917622 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 74 126 0 ENST00000343765.2:c.251G>A p.Gly84Glu p.G84E ENST00000343765 84 gGg/gAg 0 -VIPAR UCSF GRCh37 14 77920421 77920421 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 27 54 0 ENST00000343765.2:c.25G>A p.Glu9Lys p.E9K ENST00000343765 9 Gag/Aag 0 -VMO1 UCSF GRCh37 17 4689213 4689213 + intron_variant Intron SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 122 65 83 0 ENST00000328739.5:c.311+19G>A *104* ENST00000328739 NM_182566.2 0 -VN1R5 UCSF GRCh37 1 247420069 247420069 + non_coding_transcript_exon_variant RNA SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 113 76 165 0 ENST00000472952.2:n.696T>C *232* ENST00000472952 0 -VPS11 UCSF GRCh37 11 118938649 118938649 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 51 36 0 ENST00000300793.6:c.115G>A p.Ala39Thr p.A39T ENST00000300793 NM_021729.4 39 Gct/Act 0 -VPS11 UCSF GRCh37 11 118950010 118950010 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 16 37 0 ENST00000300793.6:c.2435G>A p.Ser812Asn p.S812N ENST00000300793 NM_021729.4 812 aGt/aAt 0 -VPS13B UCSF GRCh37 8 100866404 100866404 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 37 53 0 ENST00000358544.2:c.10862G>A p.Arg3621Lys p.R3621K ENST00000358544 NM_017890.4 3621 aGa/aAa 0 -VPS13B UCSF GRCh37 8 100523518 100523518 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 97 51 86 0 ENST00000358544.2:c.4486G>A p.Ala1496Thr p.A1496T ENST00000358544 NM_017890.4 1496 Gca/Aca 0 -VPS13C UCSF GRCh37 15 62269303 62269303 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 33 43 0 ENST00000261517.5:c.2386G>A p.Glu796Lys p.E796K ENST00000261517 NM_020821.2 796 Gaa/Aaa 0 -VPS8 UCSF GRCh37 3 184742165 184742165 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 31 63 0 ENST00000437079.3:c.4044C>T p.Pro1348= p.P1348= ENST00000437079 NM_001009921.2 1348 ccC/ccT 0 -VWA5B2 UCSF GRCh37 3 183959043 183959043 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 19 9 0 ENST00000426955.2:c.3031G>A p.Gly1011Arg p.G1011R ENST00000426955 NM_138345.1 1011 Ggg/Agg 0 -WAPAL UCSF GRCh37 10 88203119 88203119 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 30 72 0 ENST00000298767.5:c.3324C>T p.Ala1108= p.A1108= ENST00000298767 NM_015045.2 1108 gcC/gcT 0 -WDFY3 UCSF GRCh37 4 85716108 85716108 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 18 31 0 ENST00000295888.4:c.3192C>T p.Ala1064= p.A1064= ENST00000295888 NM_014991.4 1064 gcC/gcT 0 -WDR24 UCSF GRCh37 16 739343 739343 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 44 25 0 ENST00000248142.6:c.484G>A p.Val162Ile p.V162I ENST00000248142 162 Gtc/Atc 0 -WDR3 UCSF GRCh37 1 118483801 118483801 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 35 70 0 ENST00000349139.5:c.844G>A p.Val282Ile p.V282I ENST00000349139 NM_006784.2 282 Gtt/Att 0 -WDR44 UCSF GRCh37 X 117532428 117532428 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 28 83 0 ENST00000254029.3:c.1269G>A p.Gln423= p.Q423= ENST00000254029 NM_019045.4 423 caG/caA 0 -WDR47 UCSF GRCh37 1 109553812 109553812 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.00091 P05_Rec Untested WXS Illumina HiSeq 247 157 208 0 ENST00000369962.3:c.856C>T p.Pro286Ser p.P286S ENST00000369962 286 Cct/Tct 0 -WDR49 UCSF GRCh37 3 167293884 167293884 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 45 60 0 ENST00000308378.3:c.308C>T p.Ser103Phe p.S103F ENST00000308378 NM_178824.3 103 tCt/tTt 0 -WDR52 UCSF GRCh37 3 113082355 113082355 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 15 26 0 ENST00000295868.2:c.2740C>T p.Pro914Ser p.P914S ENST00000295868 NM_018338.3 914 Cca/Tca 0 -WDR60 UCSF GRCh37 7 158715093 158715093 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 320 76 179 0 ENST00000407559.3:c.1947C>T p.Thr649= p.T649= ENST00000407559 NM_018051.4 649 acC/acT 0 -WDR65 UCSF GRCh37 1 43685208 43685208 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 36 63 0 ENST00000372492.4:c.2247G>A p.Gln749= p.Q749= ENST00000372492 NM_001195831.2 749 caG/caA 0 -WDR7 UCSF GRCh37 18 54362355 54362355 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 61 94 0 ENST00000254442.3:c.1283G>A p.Gly428Glu p.G428E ENST00000254442 NM_015285.2 428 gGa/gAa 0 -WDR72 UCSF GRCh37 15 53908093 53908093 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 126 68 132 0 ENST00000360509.5:c.2310G>A p.Lys770= p.K770= ENST00000360509 770 aaG/aaA 0 -WDR75 UCSF GRCh37 2 190327356 190327356 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 52 91 0 ENST00000314761.4:c.925C>T p.His309Tyr p.H309Y ENST00000314761 NM_032168.1 309 Cac/Tac 0 -WDR87 UCSF GRCh37 19 38378524 38378524 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 61 66 0 ENST00000303868.5:c.5670G>A p.Gln1890= p.Q1890= ENST00000303868 NM_031951.3 1890 caG/caA 0 -WDR90 UCSF GRCh37 16 716093 716093 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 97 54 33 0 ENST00000293879.4:c.4578G>A p.Val1526= p.V1526= ENST00000293879 1526 gtG/gtA 0 -WDR92 UCSF GRCh37 2 68361836 68361836 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 19 24 48 0 ENST00000295121.6:c.864G>A p.Lys288= p.K288= ENST00000295121 NM_138458.3 288 aaG/aaA 0 -WHSC1 UCSF GRCh37 4 1956990 1956990 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 35 34 0 ENST00000382891.5:c.2441C>T p.Thr814Ile p.T814I ENST00000382891 NM_133335.3 814 aCt/aTt 0 -WIPF3 UCSF GRCh37 7 29918679 29918679 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 161 32 67 0 ENST00000242140.5:c.278G>A p.Ser93Asn p.S93N ENST00000242140 93 aGc/aAc 0 -WISP1 UCSF GRCh37 8 134239825 134239825 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 50 77 0 ENST00000250160.6:c.976G>A p.Asp326Asn p.D326N ENST00000250160 NM_003882.3 326 Gat/Aat 0 -WNK1 UCSF GRCh37 12 970338 970338 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 279 90 132 0 ENST00000315939.6:c.1780G>A p.Glu594Lys p.E594K ENST00000315939 NM_018979.3 594 Gaa/Aaa 0 -WNT10A UCSF GRCh37 2 219746931 219746931 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 32 43 0 ENST00000258411.3:c.162G>A p.Val54= p.V54= ENST00000258411 NM_025216.2 54 gtG/gtA 0 -WNT11 UCSF GRCh37 11 75907610 75907610 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 154 18 40 0 ENST00000322563.3:c.236C>A p.Ala79Asp p.A79D ENST00000322563 NM_004626.2 79 gCc/gAc 0 -WNT2B UCSF GRCh37 1 113051913 113051913 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 8 11 0 ENST00000369684.4:c.29C>T p.Ala10Val p.A10V ENST00000369684 NM_024494.2 10 gCt/gTt 0 -WRN UCSF GRCh37 8 30921871 30921871 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 92 49 88 0 ENST00000298139.5:c.276G>A p.Gly92= p.G92= ENST00000298139 NM_000553.4 92 ggG/ggA 0 -WWC1 UCSF GRCh37 5 167858422 167858422 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 19 6 40 0 ENST00000265293.4:c.2253C>T p.Thr751= p.T751= ENST00000265293 NM_001161662.1 751 acC/acT 0 -XIRP1 UCSF GRCh37 3 39227263 39227263 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 40 15 8 0 ENST00000340369.3:c.3674C>T p.Thr1225Ile p.T1225I ENST00000340369 NM_194293.2 1225 aCc/aTc 0 -XPO7 UCSF GRCh37 8 21853052 21853052 + missense_variant Missense_Mutation SNP C C A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 63 109 0 ENST00000252512.9:c.2287C>A p.His763Asn p.H763N ENST00000252512 NM_015024.4 763 Cat/Aat 0 -XPOT UCSF GRCh37 12 64819211 64819211 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 60 57 0 ENST00000332707.5:c.1546G>A p.Glu516Lys p.E516K ENST00000332707 NM_007235.4 516 Gaa/Aaa 0 -XRCC1 UCSF GRCh37 19 44050777 44050777 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 79 45 82 0 ENST00000262887.5:c.1396G>A p.Glu466Lys p.E466K ENST00000262887 466 Gaa/Aaa 0 -XRCC6 UCSF GRCh37 22 42046737 42046737 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 30 93 0 ENST00000359308.4:c.971G>A p.Ser324Asn p.S324N ENST00000359308 324 aGt/aAt 0 -XYLB UCSF GRCh37 3 38407160 38407160 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 29 24 0 ENST00000207870.3:c.440G>A p.Arg147His p.R147H ENST00000207870 NM_005108.3 147 cGc/cAc 0 -XYLB UCSF GRCh37 3 38420763 38420763 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 10 52 0 ENST00000207870.3:c.1221G>A p.Glu407= p.E407= ENST00000207870 NM_005108.3 407 gaG/gaA 0 -YIF1B UCSF GRCh37 19 38796082 38796082 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 12 11 0 ENST00000339413.6:c.855C>T p.Ala285= p.A285= ENST00000339413 NM_001039673.2 285 gcC/gcT 0 -YLPM1 UCSF GRCh37 14 75265287 75265287 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 35 84 0 ENST00000325680.7:c.3287G>A p.Gly1096Asp p.G1096D ENST00000325680 NM_019589.2 1096 gGt/gAt 0 -ZAN UCSF GRCh37 7 100345790 100345790 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 25 67 0 ENST00000546292.1:c.1054C>T p.Pro352Ser p.P352S ENST00000546292 NM_173059.1 352 Cca/Tca 0 -ZAN UCSF GRCh37 7 100382390 100382390 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 102 35 56 0 ENST00000546292.1:c.6765G>A p.Leu2255= p.L2255= ENST00000546292 NM_173059.1 2255 ctG/ctA 0 -ZBTB11 UCSF GRCh37 3 101384318 101384318 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 65 91 0 ENST00000312938.4:c.1113G>A p.Leu371= p.L371= ENST00000312938 NM_014415.3 371 ttG/ttA 0 -ZBTB40 UCSF GRCh37 1 22834591 22834591 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 36 24 39 0 ENST00000375647.4:c.1458G>C p.Met486Ile p.M486I ENST00000375647 NM_014870.3 486 atG/atC 0 -ZC3H14 UCSF GRCh37 14 89038484 89038484 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 31 75 0 ENST00000251038.5:c.346C>T p.Pro116Ser p.P116S ENST00000251038 NM_024824.4 116 Cca/Tca 0 -ZC3H7A UCSF GRCh37 16 11868307 11868307 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 69 37 76 0 ENST00000355758.4:c.688G>A p.Val230Ile p.V230I ENST00000355758 NM_014153.3 230 Gtt/Att 0 -ZC3HC1 UCSF GRCh37 7 129691065 129691065 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 31 48 0 ENST00000358303.4:c.142G>A p.Asp48Asn p.D48N ENST00000358303 NM_016478.3 48 Gac/Aac 0 -ZCCHC11 UCSF GRCh37 1 52991465 52991465 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 189 111 113 0 ENST00000371544.3:c.488G>A p.Gly163Glu p.G163E ENST00000371544 NM_015269.2 163 gGa/gAa 0 -ZCCHC14 UCSF GRCh37 16 87446357 87446357 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 192 68 74 0 ENST00000268616.4:c.1559G>A p.Ser520Asn p.S520N ENST00000268616 NM_015144.2 520 aGc/aAc 0 -ZCCHC14 UCSF GRCh37 16 87454311 87454311 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 13 20 0 ENST00000268616.4:c.441C>T p.Leu147= p.L147= ENST00000268616 NM_015144.2 147 ctC/ctT 0 -ZCCHC5 UCSF GRCh37 X 77913462 77913462 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 21 43 0 ENST00000321110.1:c.456G>A p.Glu152= p.E152= ENST00000321110 NM_152694.2 152 gaG/gaA 0 -ZCCHC8 UCSF GRCh37 12 122968055 122968055 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 154 60 82 0 ENST00000336229.4:c.557C>T p.Pro186Leu p.P186L ENST00000336229 NM_017612.3 186 cCg/cTg 0 -ZDBF2 UCSF GRCh37 2 207170065 207170065 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 143 76 95 0 ENST00000374423.3:c.813G>A p.Leu271= p.L271= ENST00000374423 NM_020923.1 271 ttG/ttA 0 -ZDHHC19 UCSF GRCh37 3 195935277 195935277 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 25 36 0 ENST00000296326.3:c.563C>T p.Ser188Phe p.S188F ENST00000296326 NM_001039617.1 188 tCc/tTc 0 -ZEB2 UCSF GRCh37 2 145157589 145157589 + stop_gained Nonsense_Mutation SNP T T A NOVEL P05_Rec Untested WXS Illumina HiSeq 150 53 80 0 ENST00000409487.3:c.1165A>T p.Lys389Ter p.K389* ENST00000409487 389 Aaa/Taa 0 -ZFAND2B UCSF GRCh37 2 220072104 220072104 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 59 47 0 ENST00000289528.5:c.111G>A p.Val37= p.V37= ENST00000289528 NM_001270999.1 37 gtG/gtA 0 -ZFAT UCSF GRCh37 8 135669891 135669891 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 17 58 0 ENST00000377838.3:c.109G>A p.Glu37Lys p.E37K ENST00000377838 NM_020863.3 37 Gaa/Aaa 0 -ZFHX2 UCSF GRCh37 14 24002825 24002825 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 150 93 106 0 ENST00000419474.3:c.1710G>A p.Gln570= p.Q570= ENST00000419474 NM_033400.2 570 caG/caA 0 -ZFP106 UCSF GRCh37 15 42731479 42731479 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 110 77 137 0 ENST00000263805.4:c.4227G>A p.Glu1409= p.E1409= ENST00000263805 NM_022473.1 1409 gaG/gaA 0 -ZFP37 UCSF GRCh37 9 115805715 115805715 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 65 138 0 ENST00000374227.3:c.1183C>T p.His395Tyr p.H395Y ENST00000374227 395 Cat/Tat 0 -ZFP90 UCSF GRCh37 16 68597932 68597932 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 111 46 77 0 ENST00000398253.2:c.1242G>A p.Arg414= p.R414= ENST00000398253 NM_133458.2 414 agG/agA 0 -ZFPM2 UCSF GRCh37 8 106814052 106814052 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 213 120 228 0 ENST00000407775.2:c.1742C>T p.Ser581Phe p.S581F ENST00000407775 NM_012082.3 581 tCc/tTc 0 -ZFR UCSF GRCh37 5 32385715 32385715 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 91 49 67 0 ENST00000265069.8:c.2540C>T p.Ser847Phe p.S847F ENST00000265069 NM_016107.3 847 tCt/tTt 0 -ZFR2 UCSF GRCh37 19 3823333 3823333 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 81 38 51 0 ENST00000262961.4:c.1282G>A p.Gly428Ser p.G428S ENST00000262961 NM_015174.1 428 Ggt/Agt 0 -ZFR2 UCSF GRCh37 19 3823340 3823340 + missense_variant Missense_Mutation SNP T T A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 35 48 0 ENST00000262961.4:c.1275A>T p.Lys425Asn p.K425N ENST00000262961 NM_015174.1 425 aaA/aaT 0 -ZGPAT UCSF GRCh37 20 62340026 62340026 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 37 10 0 ENST00000328969.5:c.94G>A p.Glu32Lys p.E32K ENST00000328969 NM_032527.4 32 Gag/Aag 0 -ZIK1 UCSF GRCh37 19 58096347 58096347 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 40 47 0 ENST00000597850.1:c.61G>A p.Asp21Asn p.D21N ENST00000597850 NM_001010879.2 21 Gac/Aac 0 -ZMAT5 UCSF GRCh37 22 30136704 30136704 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 7 13 10 0 ENST00000344318.3:c.206G>A p.Gly69Asp p.G69D ENST00000344318 NM_001003692.1 69 gGc/gAc 0 -ZMYM5 UCSF GRCh37 13 20426330 20426330 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 158 84 160 0 ENST00000337963.4:c.-10G>A p.X4_splice ENST00000337963 NM_001142684.1 0 -ZNF192 UCSF GRCh37 6 28116513 28116513 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 79 74 95 0 ENST00000330236.6:c.328C>T p.Leu110= p.L110= ENST00000330236 NM_001278122.1 110 Ctg/Ttg 0 -ZNF212 UCSF GRCh37 7 148947384 148947384 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 166 85 87 0 ENST00000335870.2:c.159G>A p.Lys53= p.K53= ENST00000335870 NM_012256.3 53 aaG/aaA 0 -ZNF217 UCSF GRCh37 20 52193739 52193739 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 86 65 82 0 ENST00000302342.3:c.1564C>T p.His522Tyr p.H522Y ENST00000302342 NM_006526.2 522 Cac/Tac 0 -ZNF276 UCSF GRCh37 16 89793686 89793686 + splice_acceptor_variant Splice_Site SNP G G A snp132_rs35924380 P05_Rec Untested WXS Illumina HiSeq 93 33 49 0 ENST00000443381.2:c.1007-1G>A p.X336_splice ENST00000443381 NM_001113525.1 0 -ZNF282 UCSF GRCh37 7 148895596 148895596 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 133 64 51 0 ENST00000262085.3:c.337G>A p.Asp113Asn p.D113N ENST00000262085 NM_003575.2 113 Gat/Aat 0 -ZNF287 UCSF GRCh37 17 16456380 16456380 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 124 60 96 0 ENST00000395824.1:c.1076G>A p.Arg359Lys p.R359K ENST00000395824 359 aGg/aAg 0 -ZNF319 UCSF GRCh37 16 58031145 58031145 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 126 50 31 0 ENST00000299237.2:c.1025C>T p.Pro342Leu p.P342L ENST00000299237 NM_020807.1 342 cCc/cTc 0 -ZNF323 UCSF GRCh37 6 28297340 28297340 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 120 69 102 0 ENST00000344279.6:c.121C>T p.Leu41Phe p.L41F ENST00000344279 41 Ctt/Ttt 0 -ZNF324 UCSF GRCh37 19 58982849 58982849 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 13 37 33 0 ENST00000196482.3:c.990G>A p.Arg330= p.R330= ENST00000196482 NM_014347.2 330 cgG/cgA 0 -ZNF333 UCSF GRCh37 19 14827864 14827864 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 13 7 12 0 ENST00000292530.6:c.786G>A p.Trp262Ter p.W262* ENST00000292530 NM_032433.2 262 tgG/tgA 0 -ZNF335 UCSF GRCh37 20 44587967 44587967 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 43 30 0 ENST00000322927.2:c.2126G>A p.Gly709Glu p.G709E ENST00000322927 NM_022095.3 709 gGg/gAg 0 -ZNF337 UCSF GRCh37 20 25657391 25657391 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 146 85 168 0 ENST00000252979.5:c.533G>A p.Gly178Glu p.G178E ENST00000252979 NM_015655.2 178 gGa/gAa 0 -ZNF35 UCSF GRCh37 3 44701118 44701118 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.011,1000g2011may_all_0.0223,snp132_rs116792244 P05_Rec Untested WXS Illumina HiSeq 73 29 44 0 ENST00000396056.2:c.1263C>T p.Ser421= p.S421= ENST00000396056 NM_003420.3 421 agC/agT 0 -ZNF394 UCSF GRCh37 7 99092124 99092124 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 122 53 92 0 ENST00000337673.6:c.714C>T p.Thr238= p.T238= ENST00000337673 NM_032164.2 238 acC/acT 0 -ZNF407 UCSF GRCh37 18 72347340 72347340 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 65 85 0 ENST00000299687.5:c.4365C>T p.Thr1455= p.T1455= ENST00000299687 NM_017757.2 1455 acC/acT 0 -ZNF415 UCSF GRCh37 19 53612377 53612377 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 38 78 0 ENST00000500065.4:c.921G>A p.Lys307= p.K307= ENST00000500065 NM_001136038.2 307 aaG/aaA 0 -ZNF441 UCSF GRCh37 19 11890937 11890937 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 46 100 0 ENST00000357901.4:c.298G>A p.Val100Ile p.V100I ENST00000357901 NM_152355.2 100 Gta/Ata 0 -ZNF441 UCSF GRCh37 19 11891501 11891501 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 134 61 135 0 ENST00000357901.4:c.862G>A p.Ala288Thr p.A288T ENST00000357901 NM_152355.2 288 Gca/Aca 0 -ZNF442 UCSF GRCh37 19 12461660 12461660 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 204 123 241 0 ENST00000242804.4:c.739C>T p.Pro247Ser p.P247S ENST00000242804 NM_030824.2 247 Cct/Tct 0 -ZNF467 UCSF GRCh37 7 149467538 149467538 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 16 30 0 ENST00000302017.3:c.142G>A p.Val48Met p.V48M ENST00000302017 NM_207336.1 48 Gtg/Atg 0 -ZNF467 UCSF GRCh37 7 149462662 149462662 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 10 8 0 ENST00000302017.3:c.929C>T p.Thr310Met p.T310M ENST00000302017 NM_207336.1 310 aCg/aTg 0 -ZNF48 UCSF GRCh37 16 30409098 30409098 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 46 36 0 ENST00000320159.2:c.527G>A p.Gly176Asp p.G176D ENST00000320159 NM_152652.2 176 gGt/gAt 0 -ZNF490 UCSF GRCh37 19 12692278 12692278 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 120 60 133 0 ENST00000311437.6:c.611C>T p.Thr204Ile p.T204I ENST00000311437 NM_020714.2 204 aCt/aTt 0 -ZNF490 UCSF GRCh37 19 12692468 12692468 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 60 99 0 ENST00000311437.6:c.421C>T p.Pro141Ser p.P141S ENST00000311437 NM_020714.2 141 Cct/Tct 0 -ZNF506 UCSF GRCh37 19 19917874 19917874 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 159 95 135 0 ENST00000443905.2:c.7C>T p.Pro3Ser p.P3S ENST00000443905 3 Cca/Tca 0 -ZNF532 UCSF GRCh37 18 56651271 56651271 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 48 80 0 ENST00000336078.4:c.3479C>T p.Thr1160Ile p.T1160I ENST00000336078 NM_018181.4 1160 aCt/aTt 0 -ZNF536 UCSF GRCh37 19 30936483 30936483 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 54 21 0 ENST00000355537.3:c.2014C>T p.Arg672Cys p.R672C ENST00000355537 NM_014717.1 672 Cgt/Tgt 0 -ZNF536 UCSF GRCh37 19 30935391 30935391 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 184 93 67 0 ENST00000355537.3:c.922G>A p.Ala308Thr p.A308T ENST00000355537 NM_014717.1 308 Gcg/Acg 0 -ZNF541 UCSF GRCh37 19 48047518 48047518 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 28 14 0 ENST00000391901.3:c.2268C>T p.Gly756= p.G756= ENST00000391901 NM_001277075.1 756 ggC/ggT 0 -ZNF554 UCSF GRCh37 19 2834574 2834574 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 25 75 0 ENST00000317243.5:c.1341C>T p.Asp447= p.D447= ENST00000317243 NM_001102651.1 447 gaC/gaT 0 -ZNF557 UCSF GRCh37 19 7083018 7083018 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 35 81 0 ENST00000414706.1:c.556G>A p.Gly186Arg p.G186R ENST00000414706 NM_024341.2 186 Ggg/Agg 0 -ZNF560 UCSF GRCh37 19 9577475 9577475 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 116 63 153 0 ENST00000301480.4:c.2148C>T p.Asp716= p.D716= ENST00000301480 NM_152476.2 716 gaC/gaT 0 -ZNF561 UCSF GRCh37 19 9727769 9727769 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 62 144 0 ENST00000302851.3:c.193C>T p.Leu65Phe p.L65F ENST00000302851 NM_152289.2 65 Ctc/Ttc 0 -ZNF585B UCSF GRCh37 19 37677650 37677650 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 146 83 137 0 ENST00000532828.2:c.789C>T p.Ile263= p.I263= ENST00000532828 NM_152279.3 263 atC/atT 0 -ZNF615 UCSF GRCh37 19 52497163 52497163 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 41 78 0 ENST00000376716.5:c.1166C>T p.Thr389Ile p.T389I ENST00000376716 NM_198480.3 389 aCa/aTa 0 -ZNF620 UCSF GRCh37 3 40557693 40557693 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 28 69 0 ENST00000314529.6:c.608G>A p.Arg203Lys p.R203K ENST00000314529 NM_175888.3 203 aGa/aAa 0 -ZNF620 UCSF GRCh37 3 40557846 40557846 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 116 33 88 0 ENST00000314529.6:c.761G>A p.Cys254Tyr p.C254Y ENST00000314529 NM_175888.3 254 tGt/tAt 0 -ZNF624 UCSF GRCh37 17 16527505 16527505 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 88 56 76 0 ENST00000311331.7:c.695C>T p.Thr232Ile p.T232I ENST00000311331 NM_020787.3 232 aCa/aTa 0 -ZNF626 UCSF GRCh37 19 20829188 20829188 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 162 99 165 0 ENST00000601440.1:c.27G>A p.Val9= p.V9= ENST00000601440 NM_001076675.2 9 gtG/gtA 0 -ZNF644 UCSF GRCh37 1 91404482 91404482 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 100 45 95 0 ENST00000337393.5:c.2429G>A p.Arg810Lys p.R810K ENST00000337393 NM_201269.2 810 aGa/aAa 0 -ZNF648 UCSF GRCh37 1 182026564 182026564 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 23 15 0 ENST00000339948.3:c.582G>A p.Arg194= p.R194= ENST00000339948 NM_001009992.1 194 agG/agA 0 -ZNF648 UCSF GRCh37 1 182026690 182026690 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 39 45 0 ENST00000339948.3:c.456C>T p.Tyr152= p.Y152= ENST00000339948 NM_001009992.1 152 taC/taT 0 -ZNF653 UCSF GRCh37 19 11597911 11597911 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 45 46 0 ENST00000293771.5:c.1234G>A p.Ala412Thr p.A412T ENST00000293771 NM_138783.3 412 Gca/Aca 0 -ZNF707 UCSF GRCh37 8 144773782 144773782 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 16 18 0 ENST00000358656.4:c.155C>T p.Pro52Leu p.P52L ENST00000358656 NM_001100598.1 52 cCc/cTc 0 -ZNF709 UCSF GRCh37 19 12576377 12576377 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 101 44 95 0 ENST00000397732.3:c.359A>G p.His120Arg p.H120R ENST00000397732 NM_152601.3 120 cAc/cGc 0 -ZNF729 UCSF GRCh37 19 22498434 22498434 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 147 104 115 0 ENST00000601693.1:c.2215C>T p.Pro739Ser p.P739S ENST00000601693 739 Ccc/Tcc 0 -ZNF778 UCSF GRCh37 16 89294111 89294111 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 191 79 152 0 ENST00000433976.2:c.1331C>T p.Thr444Ile p.T444I ENST00000433976 NM_001201407.1 444 aCt/aTt 0 -ZNF780A UCSF GRCh37 19 40581410 40581410 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 254 137 214 0 ENST00000340963.5:c.939C>T p.Ala313= p.A313= ENST00000340963 313 gcC/gcT 0 -ZNF813 UCSF GRCh37 19 53994800 53994800 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 102 197 0 ENST00000396403.4:c.1314C>T p.Pro438= p.P438= ENST00000396403 NM_001004301.3 438 ccC/ccT 0 -ZNF831 UCSF GRCh37 20 57767550 57767550 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 29 25 0 ENST00000371030.2:c.1476C>T p.Leu492= p.L492= ENST00000371030 NM_178457.2 492 ctC/ctT 0 -ZNF831 UCSF GRCh37 20 57829381 57829381 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 42 27 55 0 ENST00000371030.2:c.4617A>G p.Ala1539= p.A1539= ENST00000371030 NM_178457.2 1539 gcA/gcG 0 -ZNF836 UCSF GRCh37 19 52658807 52658807 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 174 96 148 0 ENST00000597252.1:c.2129C>T p.Ala710Val p.A710V ENST00000597252 710 gCa/gTa 0 -ZNF837 UCSF GRCh37 19 58879530 58879530 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 7 10 0 ENST00000427624.2:c.1170C>T p.Pro390= p.P390= ENST00000427624 390 ccC/ccT 0 -ZNF862 UCSF GRCh37 7 149558563 149558563 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 34 29 0 ENST00000223210.4:c.2314G>A p.Ala772Thr p.A772T ENST00000223210 NM_001099220.1 772 Gcg/Acg 0 -ZNHIT2 UCSF GRCh37 11 64884272 64884272 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 28 19 0 ENST00000310597.4:c.854G>A p.Gly285Glu p.G285E ENST00000310597 NM_014205.2 285 gGg/gAg 0 -ZPBP UCSF GRCh37 7 49977150 49977150 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 105 30 61 0 ENST00000046087.2:c.1030G>A p.Val344Met p.V344M ENST00000046087 NM_007009.2 344 Gtg/Atg 0 -ZPBP2 UCSF GRCh37 17 38028615 38028615 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 52 25 41 0 ENST00000348931.4:c.499C>T p.Leu167= p.L167= ENST00000348931 NM_199321.2 167 Ctg/Ttg 0 -ZSCAN10 UCSF GRCh37 16 3142594 3142594 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 12 12 0 ENST00000252463.2:c.180G>A p.Val60= p.V60= ENST00000252463 NM_032805.1 60 gtG/gtA 0 -ZSCAN21 UCSF GRCh37 7 99662011 99662011 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 99 22 68 0 ENST00000292450.4:c.1193G>A p.Ser398Asn p.S398N ENST00000292450 NM_145914.2 398 aGt/aAt 0 -ZSCAN5A UCSF GRCh37 19 56733035 56733035 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 61 101 0 ENST00000391713.1:c.1400C>T p.Pro467Leu p.P467L ENST00000391713 NM_024303.1 467 cCc/cTc 0 -FAM22G UCSF GRCh37 9 99697718 99697718 + synonymous_variant Silent SNP T T C snp132_rs2479289 P06_Pri Untested WXS Illumina HiSeq 24 5 27 1 ENST00000372322.3:c.822T>C p.Ile274= p.I274= ENST00000372322 NM_001170741.1 274 atT/atC 0 -GZMH UCSF GRCh37 14 25076836 25076836 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.053,snp132_rs41469548 P06_Pri Untested WXS Illumina HiSeq 28 7 53 1 ENST00000216338.4:c.321C>T p.Asn107= p.N107= ENST00000216338 NM_033423.4 107 aaC/aaT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P06_Pri Untested WXS Illumina HiSeq 40 13 45 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -RFPL1 UCSF GRCh37 22 29837847 29837847 + synonymous_variant Silent SNP G G C 1000g2010nov_all_0.077,snp132_rs61734564 P06_Pri Untested WXS Illumina HiSeq 27 6 35 1 ENST00000354373.2:c.690G>C p.Thr230= p.T230= ENST00000354373 NM_021026.2 230 acG/acC 0 -APOB UCSF GRCh37 2 21241986 21241986 + splice_acceptor_variant Splice_Site SNP C C A NOVEL P06_Rec Untested WXS Illumina HiSeq 74 9 82 0 ENST00000233242.1:c.3000-1G>T p.X1000_splice ENST00000233242 NM_000384.2 0 -ATRX UCSF GRCh37 X 76875862 76875865 + splice_donor_variant,coding_sequence_variant Splice_Site DEL CACT CACT - NOVEL P06_Rec Untested WXS Illumina HiSeq 46 0 ENST00000373344.5:c.5270_5272+1del p.X1757_splice ENST00000373344 NM_000489.3 1757 0 -CFTR UCSF GRCh37 7 117188850 117188850 + synonymous_variant Silent SNP G G T snp132_rs79074685 P06_Rec Untested WXS Illumina HiSeq 32 5 20 1 ENST00000003084.6:c.1365G>T p.Ala455= p.A455= ENST00000003084 NM_000492.3 455 gcG/gcT 0 -DNAJB4 UCSF GRCh37 1 78479131 78479131 + missense_variant Missense_Mutation SNP A A G NOVEL P06_Rec Untested WXS Illumina HiSeq 72 36 96 0 ENST00000370763.5:c.608A>G p.Glu203Gly p.E203G ENST00000370763 NM_007034.3 203 gAg/gGg 0 -DSC1 UCSF GRCh37 18 28734746 28734746 + synonymous_variant Silent SNP T T C NOVEL P06_Rec Untested WXS Illumina HiSeq 36 7 50 0 ENST00000257198.5:c.618A>G p.Glu206= p.E206= ENST00000257198 NM_024421.2 206 gaA/gaG 0 -GRIN2A UCSF GRCh37 16 9984911 9984911 + stop_gained Nonsense_Mutation SNP C C A NOVEL P06_Rec Untested WXS Illumina HiSeq 75 13 105 0 ENST00000330684.3:c.1054G>T p.Glu352Ter p.E352* ENST00000330684 NM_001134407.1 352 Gag/Tag 0 -GSN UCSF GRCh37 9 124089724 124089724 + missense_variant Missense_Mutation SNP G G A NOVEL P06_Rec Untested WXS Illumina HiSeq 8 6 10 0 ENST00000373818.4:c.1879G>A p.Ala627Thr p.A627T ENST00000373818 NM_000177.4 627 Gcc/Acc 0 -HEPHL1 UCSF GRCh37 11 93844875 93844875 + missense_variant Missense_Mutation SNP C C A NOVEL P06_Rec Untested WXS Illumina HiSeq 84 44 129 0 ENST00000315765.9:c.3295C>A p.Gln1099Lys p.Q1099K ENST00000315765 NM_001098672.1 1099 Cag/Aag 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P06_Rec Untested WXS Illumina HiSeq 29 21 45 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KLHL4 UCSF GRCh37 X 86888751 86888751 + missense_variant,splice_region_variant Missense_Mutation SNP G G T NOVEL P06_Rec Untested WXS Illumina HiSeq 27 4 28 1 ENST00000373119.4:c.1552G>T p.Val518Leu p.V518L ENST00000373119 NM_019117.4 518 Gta/Tta 0 -LARS UCSF GRCh37 5 145529208 145529208 + missense_variant Missense_Mutation SNP T T C NOVEL P06_Rec Untested WXS Illumina HiSeq 107 50 174 0 ENST00000394434.2:c.1480A>G p.Ile494Val p.I494V ENST00000394434 NM_020117.9 494 Att/Gtt 0 -LILRB1 UCSF GRCh37 19 55144532 55144532 + missense_variant Missense_Mutation SNP G G A NOVEL P06_Rec Untested WXS Illumina HiSeq 23 9 34 0 ENST00000324602.7:c.1024G>A p.Val342Met p.V342M ENST00000324602 NM_001278399.1 342 Gtg/Atg 0 -PKHD1 UCSF GRCh37 6 51612824 51612824 + missense_variant Missense_Mutation SNP T T C NOVEL P06_Rec Untested WXS Illumina HiSeq 81 40 143 0 ENST00000371117.3:c.9590A>G p.Gln3197Arg p.Q3197R ENST00000371117 NM_138694.3 3197 cAg/cGg 0 -RHOA UCSF GRCh37 3 49405899 49405899 + missense_variant Missense_Mutation SNP A A G NOVEL P06_Rec Untested WXS Illumina HiSeq 47 15 70 0 ENST00000418115.1:c.239T>C p.Ile80Thr p.I80T ENST00000418115 NM_001664.2 80 aTa/aCa 0 -SKA3 UCSF GRCh37 13 21746601 21746601 + frameshift_variant Frame_Shift_Del DEL G G - 1000g2010nov_all P06_Rec Untested WXS Illumina HiSeq 6 0 ENST00000314759.5:c.208delC p.Gln70LysfsTer7 p.Q70Kfs*7 ENST00000314759 NM_145061.5 70 Caa/aa 0 -SLC26A4 UCSF GRCh37 7 107329599 107329599 + missense_variant Missense_Mutation SNP G G A NOVEL P06_Rec Untested WXS Illumina HiSeq 46 21 80 0 ENST00000265715.3:c.1103G>A p.Gly368Glu p.G368E ENST00000265715 NM_000441.1 368 gGa/gAa 0 -SOX6 UCSF GRCh37 11 16007844 16007844 + missense_variant Missense_Mutation SNP T T C NOVEL P06_Rec Untested WXS Illumina HiSeq 99 13 101 0 ENST00000528429.1:c.2089A>G p.Thr697Ala p.T697A ENST00000528429 NM_001145819.1 697 Acc/Gcc 0 -TP53 UCSF GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.000,snp132_rs28934576 P06_Rec somatic WXS Sanger Illumina HiSeq 3 18 27 0 ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 -UBQLNL UCSF GRCh37 11 5537008 5537008 + missense_variant Missense_Mutation SNP G G C NOVEL P06_Rec Untested WXS Illumina HiSeq 79 42 112 0 ENST00000380184.1:c.664C>G p.Leu222Val p.L222V ENST00000380184 NM_145053.4 222 Cta/Gta 0 -ULK2 UCSF GRCh37 17 19729500 19729500 + splice_acceptor_variant Splice_Site SNP C C G NOVEL P06_Rec Untested WXS Illumina HiSeq 32 23 65 0 ENST00000361658.2:c.788-1G>C p.X263_splice ENST00000361658 NM_001142610.1 0 -ZIC5 UCSF GRCh37 13 100617663 100617663 + missense_variant Missense_Mutation SNP C C T NOVEL P06_Rec Untested WXS Illumina HiSeq 21 6 21 0 ENST00000267294.4:c.1960G>A p.Gly654Arg p.G654R ENST00000267294 NM_033132.3 654 Ggg/Agg 0 -ZNF283 UCSF GRCh37 19 44352107 44352107 + missense_variant Missense_Mutation SNP A A G NOVEL P06_Rec Untested WXS Illumina HiSeq 139 57 166 0 ENST00000324461.7:c.1354A>G p.Ile452Val p.I452V ENST00000324461 NM_181845.1 452 Atc/Gtc 0 -AGAP1 UCSF GRCh37 2 237028849 237028849 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 94 13 49 0 ENST00000304032.8:c.2128C>T p.Arg710Trp p.R710W ENST00000304032 NM_001037131.2 710 Cgg/Tgg 0 -ALOX15 UCSF GRCh37 17 4542894 4542894 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.047,snp132_rs3894312 P07_Pri Untested WXS Illumina HiSeq 80 9 45 1 ENST00000293761.3:c.168T>C p.Tyr56= p.Y56= ENST00000293761 NM_001140.3 56 taT/taC 0 -ANK2 UCSF GRCh37 4 114213580 114213580 + stop_gained Nonsense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 12 5 19 0 ENST00000357077.4:c.2286C>A p.Tyr762Ter p.Y762* ENST00000357077 NM_001148.4 762 taC/taA 0 -AP2A2 UCSF GRCh37 11 1009101 1009101 + missense_variant,splice_region_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 33 20 48 1 ENST00000448903.2:c.2422T>G p.Tyr808Asp p.Y808D ENST00000448903 NM_012305.3 808 Tat/Gat 0 -ARNT UCSF GRCh37 1 150801579 150801579 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 76 13 113 0 ENST00000358595.5:c.1157A>C p.Tyr386Ser p.Y386S ENST00000358595 NM_178427.2 386 tAc/tCc 0 -ASPM UCSF GRCh37 1 197097775 197097775 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 92 16 115 0 ENST00000367409.4:c.2781G>T p.Leu927Phe p.L927F ENST00000367409 NM_018136.4 927 ttG/ttT 0 -ASPM UCSF GRCh37 1 197097791 197097791 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 66 27 100 0 ENST00000367409.4:c.2765G>A p.Ser922Asn p.S922N ENST00000367409 NM_018136.4 922 aGt/aAt 0 -ATAD3A UCSF GRCh37 1 1451415 1451415 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 38 31 64 0 ENST00000378755.5:c.229C>G p.Leu77Val p.L77V ENST00000378755 NM_018188.3 77 Ctg/Gtg 0 -ATP6V1A UCSF GRCh37 3 113508669 113508669 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 82 11 86 0 ENST00000273398.3:c.970G>A p.Glu324Lys p.E324K ENST00000273398 NM_001690.3 324 Gaa/Aaa 0 -ATRX UCSF GRCh37 X 76912145 76912145 + splice_acceptor_variant Splice_Site SNP T T C NOVEL P07_Pri somatic WXS Sanger Illumina HiSeq 41 15 56 0 ENST00000373344.5:c.4121-2A>G p.X1374_splice ENST00000373344 NM_000489.3 0 -ATRX UCSF GRCh37 X 76937485 76937485 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 78 86 83 0 ENST00000373344.5:c.3263G>C p.Gly1088Ala p.G1088A ENST00000373344 NM_000489.3 1088 gGt/gCt 0 -ATRX UCSF GRCh37 X 76937487 76937487 + stop_gained Nonsense_Mutation SNP A A T NOVEL P07_Pri Untested WXS Illumina HiSeq 77 87 83 0 ENST00000373344.5:c.3261T>A p.Tyr1087Ter p.Y1087* ENST00000373344 NM_000489.3 1087 taT/taA 0 -ATRX UCSF GRCh37 X 76937376 76937376 + synonymous_variant Silent SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 77 99 112 0 ENST00000373344.5:c.3372T>C p.Ser1124= p.S1124= ENST00000373344 NM_000489.3 1124 tcT/tcC 0 -BMF UCSF GRCh37 15 40396521 40396521 + missense_variant Missense_Mutation SNP G G A snp132_rs77642791 P07_Pri Untested WXS Illumina HiSeq 95 20 117 0 ENST00000354670.4:c.313C>T p.Pro105Ser p.P105S ENST00000354670 NM_001003940.1 105 Cct/Tct 0 -C15orf17 UCSF GRCh37 15 75194971 75194971 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 91 12 103 0 ENST00000357635.5:c.586A>C p.Thr196Pro p.T196P ENST00000357635 NM_020447.3 196 Acc/Ccc 0 -C1orf172 UCSF GRCh37 1 27276560 27276560 + stop_lost Nonstop_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 31 5 42 0 ENST00000320567.5:c.1197A>C p.Ter399TyrextTer19 p.*399Yext*19 ENST00000320567 NM_152365.2 399 taA/taC 0 -C2orf65 UCSF GRCh37 2 74787345 74787345 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri somatic WXS Sanger Illumina HiSeq 38 26 51 0 ENST00000290536.5:c.1355T>G p.Leu452Arg p.L452R ENST00000290536 NM_138804.4 452 cTg/cGg 0 -C3 UCSF GRCh37 19 6697740 6697740 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 68 10 62 0 ENST00000245907.6:c.2506C>A p.Pro836Thr p.P836T ENST00000245907 NM_000064.2 836 Ccc/Acc 0 -C8orf80 UCSF GRCh37 8 27903051 27903051 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 128 28 106 0 ENST00000413272.2:c.1439A>C p.Asn480Thr p.N480T ENST00000413272 NM_001010906.1 480 aAc/aCc 0 -CAMT-ND1 UCSF GRCh37 12 67675701 67675701 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 111 16 102 0 ENST00000545606.1:c.80C>A p.Thr27Lys p.T27K ENST00000545606 NM_018448.3 27 aCa/aAa 0 -CBLL1 UCSF GRCh37 7 107399173 107399176 + protein_altering_variant In_Frame_Del DEL ACCA ACCA C NOVEL P07_Pri Untested WXS Illumina HiSeq 6 0 ENST00000440859.3:c.1026_1029delinsC p.Pro350del p.P350del ENST00000440859 NM_024814.2 342 gcACCA/gcC 0 -CCDC27 UCSF GRCh37 1 3680383 3680383 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 20 7 41 0 ENST00000294600.2:c.1435C>A p.Gln479Lys p.Q479K ENST00000294600 NM_152492.2 479 Caa/Aaa 0 -CHRNA2 UCSF GRCh37 8 27327497 27327497 + splice_region_variant,synonymous_variant Splice_Region SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 29 19 41 1 ENST00000407991.1:c.75T>G p.Gly25= p.G25= ENST00000407991 NM_000742.3 25 ggT/ggG 0 -CNTLN UCSF GRCh37 9 17486994 17486995 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P07_Pri Untested WXS Illumina HiSeq 25 0 ENST00000380647.3:c.4054dup p.Thr1352AsnfsTer4 p.T1352Nfs*4 ENST00000380647 1350 gaa/gaAa 0 -COIL UCSF GRCh37 17 55028118 55028119 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P07_Pri Untested WXS Illumina HiSeq 7 0 ENST00000240316.4:c.485dup p.Asn162LysfsTer6 p.N162Kfs*6 ENST00000240316 NM_004645.2 162 aac/aAac 0 -COL5A1 UCSF GRCh37 9 137642705 137642705 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 13 7 20 1 ENST00000371817.3:c.1639C>A p.Gln547Lys p.Q547K ENST00000371817 NM_001278074.1 547 Caa/Aaa 0 -CPNE3 UCSF GRCh37 8 87563330 87563330 + splice_donor_variant Splice_Site SNP T T G 1000g2011may_all_0.0465 P07_Pri Untested WXS Illumina HiSeq 56 35 103 1 ENST00000198765.4:c.1068+2T>G p.X356_splice ENST00000198765 0 -CYP26B1 UCSF GRCh37 2 72359514 72359514 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 17 7 31 2 ENST00000001146.2:c.1381A>C p.Thr461Pro p.T461P ENST00000001146 NM_019885.3 461 Acc/Ccc 0 -DDX26B UCSF GRCh37 X 134703307 134703307 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 59 75 81 0 ENST00000370752.4:c.1238G>A p.Arg413Gln p.R413Q ENST00000370752 NM_182540.4 413 cGa/cAa 0 -DEFB126 UCSF GRCh37 20 126310 126311 + frameshift_variant Frame_Shift_Del DEL AC AC - NOVEL P07_Pri Untested WXS Illumina HiSeq 9 0 ENST00000382398.3:c.313_314del p.Thr105ProfsTer? p.T105Pfs*? ENST00000382398 NM_030931.3 105 ACc/c 0 -DIXDC1 UCSF GRCh37 11 111853109 111853109 + frameshift_variant,splice_region_variant Frame_Shift_Ins INS T T CC NOVEL P07_Pri Untested WXS Illumina HiSeq 6 0 ENST00000440460.2:c.813delinsCC p.Gly272ArgfsTer44 p.G272Rfs*44 ENST00000440460 NM_001037954.3 271 ccT/ccCC 0 -DLEC1 UCSF GRCh37 3 38162039 38162040 + frameshift_variant Frame_Shift_Del DEL GA GA - 1000g2010nov_all P07_Pri Untested WXS Illumina HiSeq 6 0 ENST00000308059.6:c.4815_4816del p.Glu1605AspfsTer29 p.E1605Dfs*29 ENST00000308059 1602 gGA/g 0 -DNM1 UCSF GRCh37 9 131009679 131009679 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 22 6 24 0 ENST00000372923.3:c.1807C>G p.Leu603Val p.L603V ENST00000372923 NM_004408.2 603 Ctg/Gtg 0 -DTX2 UCSF GRCh37 7 76131644 76131644 + synonymous_variant Silent SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 47 6 18 0 ENST00000324432.5:c.1260C>T p.Ser420= p.S420= ENST00000324432 NM_020892.2 420 tcC/tcT 0 -DYRK1B UCSF GRCh37 19 40316909 40316909 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 47 11 64 0 ENST00000323039.5:c.1429T>C p.Ser477Pro p.S477P ENST00000323039 NM_004714.1 477 Tcc/Ccc 0 -EML6 UCSF GRCh37 2 55177866 55177866 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 139 23 83 1 ENST00000356458.6:c.4163A>G p.Asp1388Gly p.D1388G ENST00000356458 NM_001039753.2 1388 gAc/gGc 0 -ERAL1 UCSF GRCh37 17 27182065 27182065 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 30 6 52 0 ENST00000254928.5:c.13A>C p.Ser5Arg p.S5R ENST00000254928 NM_005702.2 5 Agc/Cgc 0 -ERBB2IP UCSF GRCh37 5 65374262 65374262 + stop_gained Nonsense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 82 21 100 0 ENST00000284037.5:c.4143C>A p.Tyr1381Ter p.Y1381* ENST00000284037 NM_001253697.1 1381 taC/taA 0 -EXD3 UCSF GRCh37 9 140289784 140289784 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 18 4 25 0 ENST00000340951.4:c.26A>C p.Asp9Ala p.D9A ENST00000340951 NM_017820.3 9 gAc/gCc 0 -FAM53B UCSF GRCh37 10 126311912 126311912 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 16 6 37 0 ENST00000337318.3:c.1168A>G p.Arg390Gly p.R390G ENST00000337318 NM_014661.3 390 Aga/Gga 0 -FCER1A UCSF GRCh37 1 159275786 159275786 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 86 17 115 0 ENST00000368115.1:c.340C>G p.Leu114Val p.L114V ENST00000368115 NM_002001.3 114 Ctc/Gtc 0 -FLNA UCSF GRCh37 X 153579992 153579992 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 25 4 25 0 ENST00000369850.3:c.6980C>T p.Ser2327Phe p.S2327F ENST00000369850 NM_001110556.1 2327 tCt/tTt 0 -FLT4 UCSF GRCh37 5 180058762 180058762 + stop_gained Nonsense_Mutation SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 22 5 29 0 ENST00000261937.6:c.75C>A p.Tyr25Ter p.Y25* ENST00000261937 NM_182925.4 25 taC/taA 0 -FMN1 UCSF GRCh37 15 33261341 33261341 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 53 39 70 1 ENST00000559047.1:c.2561T>C p.Leu854Pro p.L854P ENST00000559047 NM_001277313.1 854 cTc/cCc 0 -GCLM UCSF GRCh37 1 94354629 94354629 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 83 10 104 0 ENST00000370238.3:c.742C>A p.Leu248Met p.L248M ENST00000370238 NM_002061.2 248 Ctg/Atg 0 -GGT1 UCSF GRCh37 22 25011077 25011077 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 53 8 45 0 ENST00000248923.4:c.365C>T p.Ser122Leu p.S122L ENST00000248923 NM_013430.2 122 tCg/tTg 0 -GGT1 UCSF GRCh37 22 25011062 25011062 + missense_variant Missense_Mutation SNP C C G 1000g2010nov_all_0.010 P07_Pri Untested WXS Illumina HiSeq 66 9 46 1 ENST00000248923.4:c.350C>G p.Thr117Ser p.T117S ENST00000248923 NM_013430.2 117 aCc/aGc 0 -GGTLC2 UCSF GRCh37 22 22988913 22988913 + missense_variant Missense_Mutation SNP T T A 1000g2011may_all_0.0159,snp132_rs71316771 P07_Pri Untested WXS Illumina HiSeq 26 6 16 0 ENST00000480559.1:c.98T>A p.Val33Asp p.V33D ENST00000480559 NM_199127.2 33 gTt/gAt 0 -GGTLC2 UCSF GRCh37 22 22988917 22988917 + synonymous_variant Silent SNP T T C 1000g2011may_all_0.0094,snp132_rs71316772 P07_Pri Untested WXS Illumina HiSeq 27 6 16 0 ENST00000480559.1:c.102T>C p.Asp34= p.D34= ENST00000480559 NM_199127.2 34 gaT/gaC 0 -GIGYF1 UCSF GRCh37 7 100285167 100285167 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri somatic WXS Sanger Illumina HiSeq 67 36 72 0 ENST00000275732.5:c.334G>C p.Ala112Pro p.A112P ENST00000275732 NM_022574.4 112 Gct/Cct 0 -GIMAP8 UCSF GRCh37 7 150167961 150167961 + missense_variant,splice_region_variant Missense_Mutation SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 77 26 61 0 ENST00000307271.3:c.681G>T p.Gln227His p.Q227H ENST00000307271 NM_175571.2 227 caG/caT 0 -GPHB5 UCSF GRCh37 14 63784413 63784414 + non_coding_transcript_exon_variant RNA INS - - C NOVEL P07_Pri Untested WXS Illumina HiSeq 8 0 ENST00000314140.1:n.150_151insG *50* ENST00000314140 0 -GRXCR1 UCSF GRCh37 4 43032401 43032401 + synonymous_variant Silent SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 135 87 120 0 ENST00000399770.2:c.717T>C p.Cys239= p.C239= ENST00000399770 NM_001080476.2 239 tgT/tgC 0 -GSTP1 UCSF GRCh37 11 67352019 67352019 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 37 10 50 0 ENST00000398606.3:c.122A>G p.Glu41Gly p.E41G ENST00000398606 NM_000852.3 41 gAg/gGg 0 -HS6ST1 UCSF GRCh37 2 129025758 129025758 + missense_variant Missense_Mutation SNP C C A 1000g2010nov_all_0.135 P07_Pri Untested WXS Illumina HiSeq 53 7 33 1 ENST00000259241.6:c.1214G>T p.Ser405Ile p.S405I ENST00000259241 NM_004807.2 405 aGc/aTc 0 -HSF1 UCSF GRCh37 8 145534883 145534883 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 21 6 28 1 ENST00000528838.1:c.512A>G p.Glu171Gly p.E171G ENST00000528838 NM_005526.2 171 gAg/gGg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 87 57 98 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGFN1 UCSF GRCh37 1 201190723 201190723 + synonymous_variant Silent SNP G G C NOVEL P07_Pri Untested WXS Illumina HiSeq 40 7 39 0 ENST00000295591.8:c.1530G>C p.Pro510= p.P510= ENST00000295591 510 ccG/ccC 0 -ILK UCSF GRCh37 11 6629291 6629291 + synonymous_variant Silent SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 63 13 94 0 ENST00000299421.4:c.105C>T p.Phe35= p.F35= ENST00000299421 NM_004517.3 35 ttC/ttT 0 -IPO5 UCSF GRCh37 13 98637679 98637679 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 119 20 118 0 ENST00000357602.3:c.176G>A p.Arg59Lys p.R59K ENST00000357602 59 aGa/aAa 0 -JAG2 UCSF GRCh37 14 105615535 105615535 + synonymous_variant Silent SNP G G C NOVEL P07_Pri Untested WXS Illumina HiSeq 40 10 36 1 ENST00000331782.3:c.1725C>G p.Arg575= p.R575= ENST00000331782 NM_002226.4 575 cgC/cgG 0 -KDM3A UCSF GRCh37 2 86678324 86678324 + synonymous_variant Silent SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 74 9 81 0 ENST00000312912.5:c.441G>A p.Leu147= p.L147= ENST00000312912 NM_018433.5 147 ttG/ttA 0 -KIAA1267 UCSF GRCh37 17 44144000 44144002 + inframe_deletion In_Frame_Del DEL GAT GAT - NOVEL P07_Pri Untested WXS Illumina HiSeq 8 0 ENST00000574590.1:c.1749_1751del p.Ser584del p.S584del ENST00000574590 NM_001193465.1 583 tcATCt/tct 0 -KIR2DL3 UCSF GRCh37 19 55263934 55263978 + stop_lost,3_prime_UTR_variant Nonstop_Mutation DEL TCATCGTGTACACGGAACTTCCAAATGCTGAGCCCTGATCCAAAG TCATCGTGTACACGGAACTTCCAAATGCTGAGCCCTGATCCAAAG CCACCATGTACATGGAACTTCCAAATGCTAAGCCAAGATCA NOVEL P07_Pri Untested WXS Illumina HiSeq 6 0 ENST00000342376.3:c.989_*7delinsCCACCATGTACATGGAACTTCCAAATGCTAAGCCAAGATCA *330* ENST00000342376 NM_015868.2 330 0 -KLHDC10 UCSF GRCh37 7 129765709 129765709 + missense_variant Missense_Mutation SNP A A T NOVEL P07_Pri Untested WXS Illumina HiSeq 71 32 20 0 ENST00000335420.5:c.869A>T p.His290Leu p.H290L ENST00000335420 NM_014997.3 290 cAt/cTt 0 -KLHL30 UCSF GRCh37 2 239049934 239049934 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 22 4 17 0 ENST00000409223.1:c.539T>G p.Val180Gly p.V180G ENST00000409223 180 gTc/gGc 0 -LAMA2 UCSF GRCh37 6 129824352 129824352 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 137 17 106 0 ENST00000421865.2:c.8474T>C p.Phe2825Ser p.F2825S ENST00000421865 NM_001079823.1 2825 tTc/tCc 0 -LRBA UCSF GRCh37 4 151935787 151935787 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 17 5 39 0 ENST00000357115.3:c.8G>A p.Ser3Asn p.S3N ENST00000357115 NM_006726.4 3 aGc/aAc 0 -LRIT2 UCSF GRCh37 10 85985269 85985269 + missense_variant Missense_Mutation SNP G G A snp132_rs79267836 P07_Pri Untested WXS Illumina HiSeq 78 19 80 0 ENST00000372113.4:c.8C>T p.Ser3Leu p.S3L ENST00000372113 NM_001017924.2 3 tCa/tTa 0 -LRP2 UCSF GRCh37 2 169993907 169993907 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 87 67 95 0 ENST00000263816.3:c.13615A>G p.Ile4539Val p.I4539V ENST00000263816 NM_004525.2 4539 Atc/Gtc 0 -MIS18BP1 UCSF GRCh37 14 45716019 45716020 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P07_Pri Untested WXS Illumina HiSeq 7 0 ENST00000310806.4:c.471dup p.Leu158IlefsTer8 p.L158Ifs*8 ENST00000310806 NM_018353.4 157 aaa/aaAa 0 -MLH3 UCSF GRCh37 14 75514620 75514623 + frameshift_variant Frame_Shift_Del DEL TCTG TCTG - NOVEL P07_Pri Untested WXS Illumina HiSeq 8 0 ENST00000355774.2:c.1736_1739del p.Thr579ArgfsTer30 p.T579Rfs*30 ENST00000355774 NM_001040108.1 579 aCAGAg/ag 0 -MMP16 UCSF GRCh37 8 89209512 89209512 + stop_gained Nonsense_Mutation SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 106 12 83 0 ENST00000286614.6:c.156C>A p.Tyr52Ter p.Y52* ENST00000286614 NM_005941.4 52 taC/taA 0 -MYEF2 UCSF GRCh37 15 48443702 48443702 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 203 81 142 0 ENST00000324324.7:c.1274A>G p.Asn425Ser p.N425S ENST00000324324 NM_016132.3 425 aAt/aGt 0 -NINJ2 UCSF GRCh37 12 772656 772656 + synonymous_variant Silent SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 94 14 105 0 ENST00000305108.4:c.9T>G p.Gly3= p.G3= ENST00000305108 NM_016533.4 3 ggT/ggG 0 -NIPA1 UCSF GRCh37 15 23060899 23060899 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 17 4 36 0 ENST00000337435.4:c.233T>G p.Val78Gly p.V78G ENST00000337435 NM_144599.4 78 gTt/gGt 0 -NLGN4Y UCSF GRCh37 Y 16942197 16942197 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 35 7 74 0 ENST00000339174.5:c.1399A>C p.Thr467Pro p.T467P ENST00000339174 467 Acc/Ccc 0 -NME6 UCSF GRCh37 3 48340012 48340012 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 21 13 29 1 ENST00000415053.1:c.-6A>G p.X2_splice ENST00000415053 0 -NTF4 UCSF GRCh37 19 49564944 49564944 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 19 9 33 1 ENST00000593537.1:c.311T>G p.Val104Gly p.V104G ENST00000593537 104 gTg/gGg 0 -NVL UCSF GRCh37 1 224455754 224455754 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 49 9 57 0 ENST00000281701.6:c.2164G>C p.Ala722Pro p.A722P ENST00000281701 NM_002533.3 722 Gca/Cca 0 -OAF UCSF GRCh37 11 120099649 120099649 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 22 14 32 1 ENST00000328965.4:c.620T>G p.Val207Gly p.V207G ENST00000328965 NM_178507.2 207 gTg/gGg 0 -PIEZO1 UCSF GRCh37 16 88786118 88786118 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 20 6 37 0 ENST00000301015.9:c.6335T>G p.Val2112Gly p.V2112G ENST00000301015 NM_001142864.2 2112 gTg/gGg 0 -PKHD1 UCSF GRCh37 6 51920409 51920409 + synonymous_variant Silent SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 57 13 75 0 ENST00000371117.3:c.1812C>T p.Gly604= p.G604= ENST00000371117 NM_138694.3 604 ggC/ggT 0 -PRKDC UCSF GRCh37 8 48866910 48866910 + frameshift_variant Frame_Shift_Del DEL T T - 1000g2010nov_all P07_Pri Untested WXS Illumina HiSeq 6 0 ENST00000314191.2:c.496del p.Ile166TyrfsTer6 p.I166Yfs*6 ENST00000314191 NM_006904.6 166 Ata/ta 0 -PRSS1 UCSF GRCh37 7 142460412 142460431 + coding_sequence_variant,intron_variant In_Frame_Del DEL ATGTCAGGTGATTTGACCAA ATGTCAGGTGATTTGACCAA CTGCCAGGTGATTTGAC NOVEL P07_Pri Untested WXS Illumina HiSeq 13 0 ENST00000311737.7:c.585_591+13delinsCTGCCAGGTGATTTGAC *195* ENST00000311737 NM_002769.4 195 0 -PRSS48 UCSF GRCh37 4 152201017 152201018 + frameshift_variant Frame_Shift_Ins INS - - GGCAG NOVEL P07_Pri Untested WXS Illumina HiSeq 9 0 ENST00000455694.2:c.123_124insGCAGG p.Gln42AlafsTer23 p.Q42Afs*23 ENST00000455694 NM_183375.2 41 tgg/tgGGCAGg 0 -PTPN3 UCSF GRCh37 9 112184987 112185008 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site INS GGAGGACATACCAGTTGGGAGT GGAGGACATACCAGTTGGGAGT AGGAGGACATACCAGGTGGGGGG NOVEL P07_Pri Untested WXS Illumina HiSeq 7 0 ENST00000374541.2:c.1126_1136+11delinsCCCCCCACCTGGTATGTCCTCCT p.X376_splice ENST00000374541 NM_001145368.1 376 0 -RANBP3L UCSF GRCh37 5 36257584 36257584 + synonymous_variant Silent SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 70 10 77 0 ENST00000296604.3:c.744G>A p.Pro248= p.P248= ENST00000296604 NM_145000.3 248 ccG/ccA 0 -RASIP1 UCSF GRCh37 19 49243416 49243416 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 38 6 48 0 ENST00000222145.4:c.124G>C p.Ala42Pro p.A42P ENST00000222145 NM_017805.2 42 Gca/Cca 0 -RCOR3 UCSF GRCh37 1 211452617 211452617 + missense_variant Missense_Mutation SNP A A T NOVEL P07_Pri Untested WXS Illumina HiSeq 105 32 92 0 ENST00000367005.4:c.505A>T p.Asn169Tyr p.N169Y ENST00000367005 NM_018254.3 169 Aat/Tat 0 -RMND5A UCSF GRCh37 2 86998675 86998684 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TAACAGATTG TAACAGATTG AACAGATTA NOVEL P07_Pri Untested WXS Illumina HiSeq 7 0 ENST00000283632.4:c.958-6_961delinsAACAGATTA p.X320_splice ENST00000283632 NM_022780.3 0 -RNF123 UCSF GRCh37 3 49728916 49728916 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 51 6 47 0 ENST00000327697.6:c.141A>C p.Glu47Asp p.E47D ENST00000327697 NM_022064.3 47 gaA/gaC 0 -ROD1 UCSF GRCh37 9 115060107 115060119 + splice_donor_variant,intron_variant Splice_Site INS CTCACCATACACA CTCACCATACACA AACCCCCATAAACC NOVEL P07_Pri Untested WXS Illumina HiSeq 6 0 ENST00000374255.2:c.118+2_118+14delinsGGTTTATGGGGGTT p.X40_splice ENST00000374255 0 -SDR42E1 UCSF GRCh37 16 82032960 82032960 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 165 62 165 0 ENST00000328945.5:c.938G>A p.Arg313His p.R313H ENST00000328945 NM_145168.2 313 cGc/cAc 0 -SEMA3A UCSF GRCh37 7 83610763 83610763 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 61 11 37 0 ENST00000265362.4:c.1526T>G p.Val509Gly p.V509G ENST00000265362 NM_006080.2 509 gTt/gGt 0 -SIGLEC12 UCSF GRCh37 19 52001516 52001516 + synonymous_variant Silent SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 49 13 82 1 ENST00000291707.3:c.1161G>C p.Ser387= p.S387= ENST00000291707 NM_053003.2 387 tcG/tcC 0 -SLC3A1 UCSF GRCh37 2 44539860 44539860 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 102 14 77 0 ENST00000260649.6:c.1468G>T p.Val490Leu p.V490L ENST00000260649 NM_000341.3 490 Gta/Tta 0 -SLC43A1 UCSF GRCh37 11 57261571 57261571 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 66 30 66 0 ENST00000278426.3:c.766A>G p.Thr256Ala p.T256A ENST00000278426 NM_003627.5 256 Acc/Gcc 0 -SLC5A10 UCSF GRCh37 17 18923739 18923739 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Pri Untested WXS Illumina HiSeq 52 21 65 2 ENST00000395645.3:c.1786G>C p.Ala596Pro p.A596P ENST00000395645 NM_001042450.2 596 Gcc/Ccc 0 -SLC6A18 UCSF GRCh37 5 1244398 1244398 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 63 11 59 0 ENST00000324642.3:c.1406A>G p.Glu469Gly p.E469G ENST00000324642 NM_182632.2 469 gAg/gGg 0 -SLC7A14 UCSF GRCh37 3 170244714 170244714 + synonymous_variant Silent SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 37 5 53 0 ENST00000231706.5:c.12C>T p.Phe4= p.F4= ENST00000231706 NM_020949.2 4 ttC/ttT 0 -SLC7A4 UCSF GRCh37 22 21384142 21384142 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 34 19 54 0 ENST00000382932.2:c.1481G>T p.Cys494Phe p.C494F ENST00000382932 NM_004173.2 494 tGc/tTc 0 -SMYD1 UCSF GRCh37 2 88387386 88387386 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 16 9 33 0 ENST00000419482.2:c.320C>G p.Ala107Gly p.A107G ENST00000419482 NM_198274.3 107 gCg/gGg 0 -SNAP91 UCSF GRCh37 6 84315423 84315423 + synonymous_variant Silent SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 65 14 50 0 ENST00000369694.2:c.1122A>G p.Gly374= p.G374= ENST00000369694 NM_001242792.1 374 ggA/ggG 0 -AFG2A UCSF GRCh37 4 123850221 123850221 + synonymous_variant Silent SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 74 14 122 1 ENST00000274008.4:c.315A>G p.Gly105= p.G105= ENST00000274008 NM_145207.2 105 ggA/ggG 0 -SPATC1 UCSF GRCh37 8 145086738 145086738 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 16 11 31 0 ENST00000377470.3:c.55C>G p.Arg19Gly p.R19G ENST00000377470 NM_198572.2 19 Cgg/Ggg 0 -SRCRB4D UCSF GRCh37 7 76033635 76033635 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 55 24 56 0 ENST00000275560.3:c.122T>C p.Leu41Pro p.L41P ENST00000275560 NM_080744.1 41 cTc/cCc 0 -SUSD3 UCSF GRCh37 9 95838089 95838089 + missense_variant Missense_Mutation SNP C C A 1000g2011may_all_0.0392 P07_Pri Untested WXS Illumina HiSeq 70 12 43 0 ENST00000375472.3:c.112C>A p.Pro38Thr p.P38T ENST00000375472 NM_145006.2 38 Ccc/Acc 0 -TMEM27 UCSF GRCh37 X 15682877 15682877 + synonymous_variant Silent SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 33 4 58 1 ENST00000380342.3:c.22C>T p.Leu8= p.L8= ENST00000380342 NM_020665.5 8 Ctg/Ttg 0 -TNN UCSF GRCh37 1 175054602 175054602 + synonymous_variant Silent SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 8 7 34 0 ENST00000239462.4:c.1296C>A p.Gly432= p.G432= ENST00000239462 NM_022093.1 432 ggC/ggA 0 -TOR1AIP2 UCSF GRCh37 1 179820453 179820453 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 119 41 122 0 ENST00000367612.3:c.80C>T p.Ala27Val p.A27V ENST00000367612 NM_145034.4 27 gCg/gTg 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 19 87 72 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TPSD1 UCSF GRCh37 16 1307050 1307050 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.019 P07_Pri Untested WXS Illumina HiSeq 27 11 32 1 ENST00000211076.3:c.507C>T p.Asp169= p.D169= ENST00000211076 NM_012217.2 169 gaC/gaT 0 -TPST2 UCSF GRCh37 22 26937357 26937357 + synonymous_variant Silent SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 39 5 30 1 ENST00000338754.4:c.240C>A p.Gly80= p.G80= ENST00000338754 NM_003595.3 80 ggC/ggA 0 -TRIM56 UCSF GRCh37 7 100732823 100732823 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 60 17 59 1 ENST00000306085.6:c.2230A>C p.Thr744Pro p.T744P ENST00000306085 NM_030961.1 744 Acc/Ccc 0 -TTF2 UCSF GRCh37 1 117622249 117622249 + synonymous_variant Silent SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 56 10 88 0 ENST00000369466.4:c.1761G>A p.Gln587= p.Q587= ENST00000369466 NM_003594.3 587 caG/caA 0 -TUBB6 UCSF GRCh37 18 12325728 12325728 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Pri Untested WXS Illumina HiSeq 82 69 105 0 ENST00000317702.5:c.940G>C p.Ala314Pro p.A314P ENST00000317702 314 Gcc/Ccc 0 -UNC13D UCSF GRCh37 17 73832988 73832988 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Pri Untested WXS Illumina HiSeq 43 11 67 1 ENST00000207549.4:c.1067C>G p.Ala356Gly p.A356G ENST00000207549 NM_199242.2 356 gCc/gGc 0 -UPK3BL UCSF GRCh37 7 102279621 102279621 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.034,1000g2011may_all_0.1195,snp132_rs56365279 P07_Pri Untested WXS Illumina HiSeq 14 3 10 0 ENST00000340457.8:c.511G>A p.Glu171Lys p.E171K ENST00000340457 NM_001114403.2 171 Gaa/Aaa 0 -VAX1 UCSF GRCh37 10 118893633 118893633 + synonymous_variant Silent SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 16 9 20 0 ENST00000369206.5:c.891T>G p.Gly297= p.G297= ENST00000369206 NM_001112704.1 297 ggT/ggG 0 -VGF UCSF GRCh37 7 100806737 100806737 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 16 9 22 0 ENST00000249330.2:c.1388A>C p.His463Pro p.H463P ENST00000249330 NM_003378.3 463 cAc/cCc 0 -WDR3 UCSF GRCh37 1 118502003 118502003 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 77 11 63 0 ENST00000349139.5:c.2765C>T p.Thr922Ile p.T922I ENST00000349139 NM_006784.2 922 aCt/aTt 0 -WHAMM UCSF GRCh37 15 83478599 83478599 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 17 9 9 0 ENST00000286760.4:c.121T>C p.Phe41Leu p.F41L ENST00000286760 NM_001080435.1 41 Ttc/Ctc 0 -YEATS2 UCSF GRCh37 3 183515780 183515780 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 128 22 96 0 ENST00000305135.5:c.3167A>G p.Lys1056Arg p.K1056R ENST00000305135 NM_018023.4 1056 aAa/aGa 0 -ZNF513 UCSF GRCh37 2 27601003 27601003 + synonymous_variant Silent SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 62 10 76 0 ENST00000323703.6:c.1035A>G p.Gly345= p.G345= ENST00000323703 NM_144631.5 345 ggA/ggG 0 -ZNF783 UCSF GRCh37 7 148978725 148978725 + intron_variant,NMD_transcript_variant Intron SNP G G C NOVEL P07_Pri Untested WXS Illumina HiSeq 44 9 38 0 ENST00000378052.1:c.802+3107G>C *268* ENST00000378052 0 -ABCB9 UCSF GRCh37 12 123434996 123434996 + splice_donor_variant Splice_Site SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 24 4 26 0 ENST00000280560.8:c.716+2T>G p.X239_splice ENST00000280560 NM_019625.3 0 -ABCG8 UCSF GRCh37 2 44101016 44101016 + synonymous_variant Silent SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 228 26 208 0 ENST00000272286.2:c.1302C>G p.Leu434= p.L434= ENST00000272286 NM_022437.2 434 ctC/ctG 0 -ADAMTS8 UCSF GRCh37 11 130276014 130276014 + stop_gained Nonsense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 65 8 63 0 ENST00000257359.6:c.2109C>A p.Tyr703Ter p.Y703* ENST00000257359 NM_007037.4 703 taC/taA 0 -AGAP1 UCSF GRCh37 2 237028849 237028849 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 28 29 49 0 ENST00000304032.8:c.2128C>T p.Arg710Trp p.R710W ENST00000304032 NM_001037131.2 710 Cgg/Tgg 0 -ALDH4A1 UCSF GRCh37 1 19202933 19202933 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 18 11 48 0 ENST00000290597.5:c.1214A>G p.Glu405Gly p.E405G ENST00000290597 NM_170726.2 405 gAg/gGg 0 -ANK3 UCSF GRCh37 10 62021707 62021707 + synonymous_variant Silent SNP G G A snp132_rs79510328 P07_Rec Untested WXS Illumina HiSeq 47 8 62 0 ENST00000280772.2:c.708C>T p.Phe236= p.F236= ENST00000280772 NM_020987.3 236 ttC/ttT 0 -ANKRD33 UCSF GRCh37 12 52284892 52284892 + intron_variant Intron SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 93 12 67 0 ENST00000340970.4:c.665-78C>A *222* ENST00000340970 0 -ARNT UCSF GRCh37 1 150801579 150801579 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 90 12 113 0 ENST00000358595.5:c.1157A>C p.Tyr386Ser p.Y386S ENST00000358595 NM_178427.2 386 tAc/tCc 0 -ASH1L UCSF GRCh37 1 155490985 155490985 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 209 30 152 0 ENST00000368346.3:c.326G>C p.Arg109Pro p.R109P ENST00000368346 109 cGa/cCa 0 -ASPM UCSF GRCh37 1 197097791 197097791 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 70 21 100 0 ENST00000367409.4:c.2765G>A p.Ser922Asn p.S922N ENST00000367409 NM_018136.4 922 aGt/aAt 0 -ATAD3A UCSF GRCh37 1 1451415 1451415 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 37 19 64 0 ENST00000378755.5:c.229C>G p.Leu77Val p.L77V ENST00000378755 NM_018188.3 77 Ctg/Gtg 0 -ATF7 UCSF GRCh37 12 53925539 53925539 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 54 11 99 1 ENST00000548446.2:c.949G>C p.Ala317Pro p.A317P ENST00000548446 317 Gcc/Ccc 0 -ATP11A UCSF GRCh37 13 113485856 113485856 + synonymous_variant Silent SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 48 31 42 0 ENST00000375645.3:c.1389C>T p.Asn463= p.N463= ENST00000375645 NM_015205.2 463 aaC/aaT 0 -ATP12A UCSF GRCh37 13 25283587 25283587 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 24 13 51 1 ENST00000381946.3:c.2579T>G p.Val860Gly p.V860G ENST00000381946 860 gTg/gGg 0 -ATRX UCSF GRCh37 X 76912145 76912145 + splice_acceptor_variant Splice_Site SNP T T C NOVEL P07_Rec somatic WXS Sanger Illumina HiSeq 19 41 56 0 ENST00000373344.5:c.4121-2A>G p.X1374_splice ENST00000373344 NM_000489.3 0 -BACE2 UCSF GRCh37 21 42609457 42609457 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 97 25 112 0 ENST00000330333.6:c.419C>G p.Ser140Cys p.S140C ENST00000330333 NM_012105.4 140 tCc/tGc 0 -BIN2 UCSF GRCh37 12 51685455 51685455 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 79 21 72 0 ENST00000267012.4:c.1435C>T p.Pro479Ser p.P479S ENST00000267012 NM_016293.2 479 Cct/Tct 0 -BIN2 UCSF GRCh37 12 51690936 51690936 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 57 7 53 0 ENST00000267012.4:c.615C>G p.Cys205Trp p.C205W ENST00000267012 NM_016293.2 205 tgC/tgG 0 -BPTF UCSF GRCh37 17 65941584 65941584 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 73 9 66 1 ENST00000321892.4:c.7138A>C p.Thr2380Pro p.T2380P ENST00000321892 2380 Acc/Ccc 0 -C15orf17 UCSF GRCh37 15 75194971 75194971 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 84 10 103 0 ENST00000357635.5:c.586A>C p.Thr196Pro p.T196P ENST00000357635 NM_020447.3 196 Acc/Ccc 0 -C17orf46 UCSF GRCh37 17 43332527 43332527 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 44 7 52 2 ENST00000331780.4:c.1022T>C p.Leu341Pro p.L341P ENST00000331780 NM_152343.2 341 cTc/cCc 0 -C17orf46 UCSF GRCh37 17 43332520 43332520 + synonymous_variant Silent SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 66 11 50 1 ENST00000331780.4:c.1029A>C p.Pro343= p.P343= ENST00000331780 NM_152343.2 343 ccA/ccC 0 -C2orf54 UCSF GRCh37 2 241831112 241831112 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 24 6 51 0 ENST00000388934.4:c.583A>G p.Arg195Gly p.R195G ENST00000388934 NM_001085437.1 195 Aga/Gga 0 -C2orf65 UCSF GRCh37 2 74787345 74787345 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec somatic WXS Sanger Illumina HiSeq 33 8 51 0 ENST00000290536.5:c.1355T>G p.Leu452Arg p.L452R ENST00000290536 NM_138804.4 452 cTg/cGg 0 -C5orf55 UCSF GRCh37 5 442884 442884 + synonymous_variant Silent SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 36 8 63 0 ENST00000408966.2:c.54C>G p.Gly18= p.G18= ENST00000408966 NM_138464.2 18 ggC/ggG 0 -C9orf11 UCSF GRCh37 9 27294321 27294321 + synonymous_variant Silent SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 50 34 36 1 ENST00000380032.3:c.282A>G p.Leu94= p.L94= ENST00000380032 NM_020641.2 94 ctA/ctG 0 -CACNA2D4 UCSF GRCh37 12 2017100 2017100 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 27 5 32 0 ENST00000382722.5:c.590A>C p.Asn197Thr p.N197T ENST00000382722 NM_172364.4 197 aAc/aCc 0 -CAMT-ND1 UCSF GRCh37 12 67675701 67675701 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 109 23 102 0 ENST00000545606.1:c.80C>A p.Thr27Lys p.T27K ENST00000545606 NM_018448.3 27 aCa/aAa 0 -CARM1 UCSF GRCh37 19 11019790 11019790 + stop_gained Nonsense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 52 9 52 0 ENST00000327064.4:c.465C>A p.Tyr155Ter p.Y155* ENST00000327064 NM_199141.1 155 taC/taA 0 -CBLL1 UCSF GRCh37 7 107399172 107399174 + inframe_deletion In_Frame_Del DEL CAC CAC - NOVEL P07_Rec Untested WXS Illumina HiSeq 10 0 ENST00000440859.3:c.1029_1031del p.Pro350del p.P350del ENST00000440859 NM_024814.2 342 gCACca/gca 0 -CBLL1 UCSF GRCh37 7 107399173 107399176 + protein_altering_variant In_Frame_Del DEL ACCA ACCA C NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000440859.3:c.1026_1029delinsC p.Pro350del p.P350del ENST00000440859 NM_024814.2 342 gcACCA/gcC 0 -CCDC103 UCSF GRCh37 17 42978399 42978399 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P07_Rec Untested WXS Illumina HiSeq 35 0 ENST00000410006.2:c.35del p.Leu12TrpfsTer45 p.L12Wfs*45 ENST00000410006 NM_001258395.1 11 gcT/gc 0 -CCDC27 UCSF GRCh37 1 3680383 3680383 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 16 8 41 0 ENST00000294600.2:c.1435C>A p.Gln479Lys p.Q479K ENST00000294600 NM_152492.2 479 Caa/Aaa 0 -CDK14 UCSF GRCh37 7 90546941 90546944 + frameshift_variant Frame_Shift_Del DEL GTCT GTCT - NOVEL P07_Rec Untested WXS Illumina HiSeq 31 0 ENST00000380050.3:c.732_735del p.Ser245ThrfsTer12 p.S245Tfs*12 ENST00000380050 NM_001287137.1 243 gGTCTg/gg 0 -CELSR1 UCSF GRCh37 22 46790131 46790131 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 20 11 59 0 ENST00000262738.3:c.5872T>G p.Trp1958Gly p.W1958G ENST00000262738 NM_014246.1 1958 Tgg/Ggg 0 -CHRNA2 UCSF GRCh37 8 27327497 27327497 + splice_region_variant,synonymous_variant Splice_Region SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 32 12 41 1 ENST00000407991.1:c.75T>G p.Gly25= p.G25= ENST00000407991 NM_000742.3 25 ggT/ggG 0 -CLEC7A UCSF GRCh37 12 10279261 10279261 + stop_gained Nonsense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 93 11 70 0 ENST00000304084.8:c.249C>A p.Tyr83Ter p.Y83* ENST00000304084 NM_197947.2 83 taC/taA 0 -CNTLN UCSF GRCh37 9 17486994 17486995 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P07_Rec Untested WXS Illumina HiSeq 26 0 ENST00000380647.3:c.4054dup p.Thr1352AsnfsTer4 p.T1352Nfs*4 ENST00000380647 1350 gaa/gaAa 0 -COL16A1 UCSF GRCh37 1 32118347 32118370 + frameshift_variant Frame_Shift_Del DEL TGCCTGGCTGGCCCATGGGACCCG TGCCTGGCTGGCCCATGGGACCCG C NOVEL P07_Rec 24 Untested WXS Illumina HiSeq 12 0 ENST00000373672.3:c.4697_4720delinsG p.Pro1566ArgfsTer6 p.P1566Rfs*6 ENST00000373672 NM_001856.3 1566 cCGGGTCCCATGGGCCAGCCAGGCAag/cGag 0 -COL4A4 UCSF GRCh37 2 227875211 227875211 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P07_Rec Untested WXS Illumina HiSeq 9 0 ENST00000396625.3:c.4340del p.Pro1447LeufsTer105 p.P1447Lfs*105 ENST00000396625 NM_000092.4 1447 cCt/ct 0 -CPNE3 UCSF GRCh37 8 87563330 87563330 + splice_donor_variant Splice_Site SNP T T G 1000g2011may_all_0.0465 P07_Rec Untested WXS Illumina HiSeq 38 26 103 1 ENST00000198765.4:c.1068+2T>G p.X356_splice ENST00000198765 0 -CRBN UCSF GRCh37 3 3215909 3215909 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 96 12 117 0 ENST00000231948.4:c.211A>G p.Thr71Ala p.T71A ENST00000231948 NM_016302.3 71 Act/Gct 0 -CSMD2 UCSF GRCh37 1 34554724 34554724 + stop_gained,NMD_transcript_variant Nonsense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 76 10 68 0 ENST00000241312.4:c.138C>A p.Tyr46Ter p.Y46* ENST00000241312 46 taC/taA 0 -CTNNA1 UCSF GRCh37 5 138260372 138260372 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 27 4 37 0 ENST00000302763.7:c.1720G>A p.Glu574Lys p.E574K ENST00000302763 NM_001903.2 574 Gaa/Aaa 0 -CTNNAL1 UCSF GRCh37 9 111718091 111718091 + stop_gained Nonsense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 105 15 105 0 ENST00000325551.4:c.1608C>A p.Tyr536Ter p.Y536* ENST00000325551 NM_003798.2 536 taC/taA 0 -CYBASC3 UCSF GRCh37 11 61120560 61120560 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 51 8 52 0 ENST00000294072.4:c.445C>G p.Arg149Gly p.R149G ENST00000294072 NM_153611.4 149 Cgc/Ggc 0 -DCHS1 UCSF GRCh37 11 6643472 6643472 + synonymous_variant Silent SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 11 3 29 1 ENST00000299441.3:c.9435T>G p.Gly3145= p.G3145= ENST00000299441 NM_003737.2 3145 ggT/ggG 0 -DDHD2 UCSF GRCh37 8 38111154 38111154 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 175 37 131 0 ENST00000397166.2:c.1972C>T p.Arg658Cys p.R658C ENST00000397166 NM_015214.2 658 Cgc/Tgc 0 -DDX60L UCSF GRCh37 4 169315741 169315741 + stop_gained Nonsense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 173 32 138 0 ENST00000260184.7:c.3685C>T p.Arg1229Ter p.R1229* ENST00000260184 NM_001012967.1 1229 Cga/Tga 0 -DEFB126 UCSF GRCh37 20 126310 126311 + frameshift_variant Frame_Shift_Del DEL AC AC - NOVEL P07_Rec Untested WXS Illumina HiSeq 8 0 ENST00000382398.3:c.313_314del p.Thr105ProfsTer? p.T105Pfs*? ENST00000382398 NM_030931.3 105 ACc/c 0 -DIS3 UCSF GRCh37 13 73337743 73337743 + missense_variant,splice_region_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 74 13 132 1 ENST00000377767.4:c.1973A>G p.Glu658Gly p.E658G ENST00000377767 NM_014953.3 658 gAa/gGa 0 -DIXDC1 UCSF GRCh37 11 111853109 111853109 + frameshift_variant,splice_region_variant Frame_Shift_Ins INS T T CC NOVEL P07_Rec Untested WXS Illumina HiSeq 11 0 ENST00000440460.2:c.813delinsCC p.Gly272ArgfsTer44 p.G272Rfs*44 ENST00000440460 NM_001037954.3 271 ccT/ccCC 0 -DNAJA3 UCSF GRCh37 16 4500462 4500462 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 21 4 14 0 ENST00000262375.6:c.1303G>A p.Glu435Lys p.E435K ENST00000262375 NM_005147.5 435 Gag/Aag 0 -DNMT1 UCSF GRCh37 19 10270707 10270742 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region DEL ACTGTTTTGGCGCGAGCCATTTTTTTCTCCGTTCTG ACTGTTTTGGCGCGAGCCATTTTTTTCTCCGTTCTG GTTGTTGTGGGGGGAGCCATTTTTTTCTCCGTTCT NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000340748.4:c.996-3_1028delinsAGAACGGAGAAAAAAATGGCTCCCCCCACAACAAC p.X332_splice ENST00000340748 0 -DOK6 UCSF GRCh37 18 67508602 67508602 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 93 12 101 0 ENST00000382713.5:c.979T>C p.Ser327Pro p.S327P ENST00000382713 NM_152721.5 327 Tcc/Ccc 0 -ERBB2IP UCSF GRCh37 5 65374262 65374262 + stop_gained Nonsense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 74 19 100 0 ENST00000284037.5:c.4143C>A p.Tyr1381Ter p.Y1381* ENST00000284037 NM_001253697.1 1381 taC/taA 0 -ERGIC3 UCSF GRCh37 20 34145203 34145203 + synonymous_variant Silent SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 69 9 89 0 ENST00000348547.2:c.1080A>G p.Gly360= p.G360= ENST00000348547 NM_015966.2 360 ggA/ggG 0 -ETFA UCSF GRCh37 15 76578040 76578040 + missense_variant Missense_Mutation SNP T T A NOVEL P07_Rec Untested WXS Illumina HiSeq 77 31 83 1 ENST00000557943.1:c.602A>T p.Asp201Val p.D201V ENST00000557943 NM_000126.3 201 gAc/gTc 0 -FAM108A1 UCSF GRCh37 19 1881408 1881408 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 60 9 40 0 ENST00000292577.7:c.158T>C p.Leu53Ser p.L53S ENST00000292577 NM_001130111.1 53 tTg/tCg 0 -FAM58BP UCSF GRCh37 1 200183278 200183278 + non_coding_transcript_exon_variant RNA SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0088 P07_Rec Untested WXS Illumina HiSeq 88 17 59 0 ENST00000424019.1:n.623C>T *208* ENST00000424019 0 -FCER1A UCSF GRCh37 1 159275786 159275786 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 72 12 115 0 ENST00000368115.1:c.340C>G p.Leu114Val p.L114V ENST00000368115 NM_002001.3 114 Ctc/Gtc 0 -FMN1 UCSF GRCh37 15 33261341 33261341 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 61 37 70 1 ENST00000559047.1:c.2561T>C p.Leu854Pro p.L854P ENST00000559047 NM_001277313.1 854 cTc/cCc 0 -GFM1 UCSF GRCh37 3 158384100 158384100 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 41 12 32 0 ENST00000486715.1:c.1526A>G p.Glu509Gly p.E509G ENST00000486715 NM_024996.5 509 gAa/gGa 0 -GGTLC2 UCSF GRCh37 22 22988917 22988917 + synonymous_variant Silent SNP T T C 1000g2011may_all_0.0094,snp132_rs71316772 P07_Rec Untested WXS Illumina HiSeq 22 5 16 0 ENST00000480559.1:c.102T>C p.Asp34= p.D34= ENST00000480559 NM_199127.2 34 gaT/gaC 0 -GIF UCSF GRCh37 11 59610508 59610508 + synonymous_variant Silent SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 56 13 67 1 ENST00000257248.2:c.363A>C p.Ala121= p.A121= ENST00000257248 NM_005142.2 121 gcA/gcC 0 -GIGYF1 UCSF GRCh37 7 100285167 100285167 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec somatic WXS Sanger Illumina HiSeq 68 13 72 0 ENST00000275732.5:c.334G>C p.Ala112Pro p.A112P ENST00000275732 NM_022574.4 112 Gct/Cct 0 -GOLGB1 UCSF GRCh37 3 121435721 121435721 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 204 37 166 0 ENST00000340645.5:c.1136C>G p.Ser379Cys p.S379C ENST00000340645 NM_001256487.1 379 tCt/tGt 0 -GORASP2 UCSF GRCh37 2 171806771 171806771 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 70 17 58 0 ENST00000234160.4:c.406A>G p.Ile136Val p.I136V ENST00000234160 NM_015530.4 136 Ata/Gta 0 -GPR26 UCSF GRCh37 10 125447449 125447449 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 45 16 76 0 ENST00000284674.1:c.787G>A p.Val263Met p.V263M ENST00000284674 NM_153442.3 263 Gtg/Atg 0 -GRXCR1 UCSF GRCh37 4 43032401 43032401 + synonymous_variant Silent SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 118 53 120 0 ENST00000399770.2:c.717T>C p.Cys239= p.C239= ENST00000399770 NM_001080476.2 239 tgT/tgC 0 -HDLBP UCSF GRCh37 2 242179463 242179463 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P07_Rec Untested WXS Illumina HiSeq 13 0 ENST00000391975.1:c.2244del p.Ile750PhefsTer24 p.I750Ffs*24 ENST00000391975 NM_203346.3 748 ggC/gg 0 -HEATR2 UCSF GRCh37 7 796564 796564 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 21 14 42 0 ENST00000297440.6:c.1403T>C p.Leu468Pro p.L468P ENST00000297440 NM_017802.3 468 cTc/cCc 0 -HLA-DQB1 UCSF GRCh37 6 32629150 32629150 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 21 47 49 0 ENST00000374943.4:c.746T>C p.Leu249Pro p.L249P ENST00000374943 NM_001243961.1 249 cTt/cCt 0 -HLX UCSF GRCh37 1 221054610 221054610 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 129 23 98 0 ENST00000366903.6:c.667T>C p.Phe223Leu p.F223L ENST00000366903 NM_021958.3 223 Ttc/Ctc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 83 51 98 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -ILK UCSF GRCh37 11 6629291 6629291 + synonymous_variant Silent SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 78 13 94 0 ENST00000299421.4:c.105C>T p.Phe35= p.F35= ENST00000299421 NM_004517.3 35 ttC/ttT 0 -IPO5 UCSF GRCh37 13 98637679 98637679 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 110 16 118 0 ENST00000357602.3:c.176G>A p.Arg59Lys p.R59K ENST00000357602 59 aGa/aAa 0 -IRX6 UCSF GRCh37 16 55361522 55361522 + synonymous_variant Silent SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 34 28 70 0 ENST00000290552.7:c.438C>T p.Gly146= p.G146= ENST00000290552 NM_024335.2 146 ggC/ggT 0 -KIAA0564 UCSF GRCh37 13 42164786 42164786 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 105 12 61 0 ENST00000379310.3:c.5102T>G p.Leu1701Arg p.L1701R ENST00000379310 NM_015058.1 1701 cTg/cGg 0 -KIAA1267 UCSF GRCh37 17 44144000 44144002 + inframe_deletion In_Frame_Del DEL GAT GAT - NOVEL P07_Rec Untested WXS Illumina HiSeq 30 0 ENST00000574590.1:c.1749_1751del p.Ser584del p.S584del ENST00000574590 NM_001193465.1 583 tcATCt/tct 0 -KIAA1462 UCSF GRCh37 10 30316881 30316881 + synonymous_variant Silent SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 75 56 69 0 ENST00000375377.1:c.2196G>A p.Thr732= p.T732= ENST00000375377 NM_020848.2 732 acG/acA 0 -KRBA1 UCSF GRCh37 7 149430470 149430470 + synonymous_variant Silent SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 98 42 68 0 ENST00000319551.8:c.2244C>T p.Ala748= p.A748= ENST00000319551 748 gcC/gcT 0 -KRT7 UCSF GRCh37 12 52642412 52642412 + synonymous_variant Silent SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 24 4 44 0 ENST00000331817.5:c.1278T>G p.Gly426= p.G426= ENST00000331817 NM_005556.3 426 ggT/ggG 0 -L3MBTL3 UCSF GRCh37 6 130387509 130387509 + stop_gained Nonsense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 95 12 129 0 ENST00000361794.2:c.876C>A p.Tyr292Ter p.Y292* ENST00000361794 NM_032438.2 292 taC/taA 0 -LAMA2 UCSF GRCh37 6 129824352 129824352 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 96 64 106 0 ENST00000421865.2:c.8474T>C p.Phe2825Ser p.F2825S ENST00000421865 NM_001079823.1 2825 tTc/tCc 0 -LAMB4 UCSF GRCh37 7 107703235 107703235 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 67 10 64 0 ENST00000205386.4:c.3266G>T p.Ser1089Ile p.S1089I ENST00000205386 1089 aGt/aTt 0 -LANCL3 UCSF GRCh37 X 37518731 37518731 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 27 5 35 0 ENST00000378619.3:c.714G>T p.Leu238Phe p.L238F ENST00000378619 NM_001170331.1 238 ttG/ttT 0 -LRP2 UCSF GRCh37 2 169993907 169993907 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 91 54 95 0 ENST00000263816.3:c.13615A>G p.Ile4539Val p.I4539V ENST00000263816 NM_004525.2 4539 Atc/Gtc 0 -MAK16 UCSF GRCh37 8 33346526 33346526 + stop_gained Nonsense_Mutation SNP T T A NOVEL P07_Rec Untested WXS Illumina HiSeq 196 37 158 0 ENST00000360128.6:c.261T>A p.Tyr87Ter p.Y87* ENST00000360128 NM_032509.3 87 taT/taA 0 -MAPK8IP3 UCSF GRCh37 16 1815990 1815990 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 15 16 36 0 ENST00000250894.4:c.2473G>A p.Glu825Lys p.E825K ENST00000250894 NM_015133.3 825 Gag/Aag 0 -MEF2C UCSF GRCh37 5 88025121 88025121 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 109 13 64 0 ENST00000437473.2:c.878C>A p.Thr293Asn p.T293N ENST00000437473 NM_001193350.1 293 aCc/aAc 0 -MLL3 UCSF GRCh37 7 151874148 151874149 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000262189.6:c.8390dup p.Glu2798GlyfsTer11 p.E2798Gfs*11 ENST00000262189 NM_170606.2 2797 aag/aAag 0 -MPP4 UCSF GRCh37 2 202545740 202545740 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 151 18 117 0 ENST00000409474.3:c.750G>A p.Met250Ile p.M250I ENST00000409474 NM_033066.2 250 atG/atA 0 -MRPL47 UCSF GRCh37 3 179310526 179310526 + missense_variant,splice_region_variant Missense_Mutation SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 52 16 100 0 ENST00000476781.1:c.535C>G p.His179Asp p.H179D ENST00000476781 NM_020409.2 179 Cac/Gac 0 -MTHFR UCSF GRCh37 1 11854002 11854002 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 56 12 55 0 ENST00000376590.3:c.1492G>A p.Val498Met p.V498M ENST00000376590 NM_005957.4 498 Gtg/Atg 0 -NARS2 UCSF GRCh37 11 78277317 78277317 + missense_variant,splice_region_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 90 23 135 2 ENST00000281038.5:c.374A>G p.Asp125Gly p.D125G ENST00000281038 NM_001243251.1 125 gAt/gGt 0 -NLGN4Y UCSF GRCh37 Y 16942197 16942197 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 39 9 74 0 ENST00000339174.5:c.1399A>C p.Thr467Pro p.T467P ENST00000339174 467 Acc/Ccc 0 -NLRP3 UCSF GRCh37 1 247587244 247587244 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 52 7 55 0 ENST00000336119.3:c.499C>T p.Arg167Cys p.R167C ENST00000336119 NM_001127462.2 167 Cgc/Tgc 0 -NOTCH1 UCSF GRCh37 9 139391036 139391036 + synonymous_variant Silent SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 43 8 76 0 ENST00000277541.6:c.7155G>C p.Val2385= p.V2385= ENST00000277541 NM_017617.3 2385 gtG/gtC 0 -NUDT10 UCSF GRCh37 X 51076024 51076024 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.00397,1000g2011may_all_0.0126,snp132_rs2801626 P07_Rec Untested WXS Illumina HiSeq 53 6 33 0 ENST00000356450.2:c.207G>A p.Glu69= p.E69= ENST00000356450 69 gaG/gaA 0 -OCA2 UCSF GRCh37 15 28231781 28231781 + missense_variant Missense_Mutation SNP T T A NOVEL P07_Rec Untested WXS Illumina HiSeq 146 18 160 0 ENST00000354638.3:c.1191A>T p.Leu397Phe p.L397F ENST00000354638 NM_000275.2 397 ttA/ttT 0 -OR4A15 UCSF GRCh37 11 55135516 55135516 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 212 26 196 0 ENST00000314706.3:c.157A>G p.Lys53Glu p.K53E ENST00000314706 NM_001005275.1 53 Aag/Gag 0 -PCDHB14 UCSF GRCh37 5 140604999 140604999 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 36 11 50 0 ENST00000239449.4:c.1922T>G p.Val641Gly p.V641G ENST00000239449 NM_018934.2 641 gTg/gGg 0 -PCNX UCSF GRCh37 14 71568927 71568927 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P07_Rec Untested WXS Illumina HiSeq 17 0 ENST00000304743.2:c.5812del p.Val1938SerfsTer4 p.V1938Sfs*4 ENST00000304743 NM_014982.2 1937 aGg/ag 0 -PCNXL3 UCSF GRCh37 11 65402768 65402768 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 10 4 16 1 ENST00000355703.3:c.5033T>G p.Val1678Gly p.V1678G ENST00000355703 NM_032223.2 1678 gTc/gGc 0 -PGC UCSF GRCh37 6 41715059 41715059 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 41 7 61 1 ENST00000373025.3:c.14T>G p.Val5Gly p.V5G ENST00000373025 NM_002630.3 5 gTg/gGg 0 -PNLIP UCSF GRCh37 10 118307928 118307928 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 199 30 154 0 ENST00000369221.2:c.258A>C p.Lys86Asn p.K86N ENST00000369221 NM_000936.2 86 aaA/aaC 0 -PNOC UCSF GRCh37 8 28196684 28196684 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 34 10 77 0 ENST00000301908.3:c.254A>C p.Tyr85Ser p.Y85S ENST00000301908 NM_006228.3 85 tAc/tCc 0 -PRKG1 UCSF GRCh37 10 53564389 53564389 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 82 12 97 0 ENST00000373985.1:c.556C>G p.Gln186Glu p.Q186E ENST00000373985 NM_001098512.2 186 Caa/Gaa 0 -PRSS1 UCSF GRCh37 7 142460412 142460431 + coding_sequence_variant,intron_variant In_Frame_Del DEL ATGTCAGGTGATTTGACCAA ATGTCAGGTGATTTGACCAA CTGCCAGGTGATTTGAC NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000311737.7:c.585_591+13delinsCTGCCAGGTGATTTGAC *195* ENST00000311737 NM_002769.4 195 0 -PRSS48 UCSF GRCh37 4 152201017 152201018 + frameshift_variant Frame_Shift_Ins INS - - GGCAG NOVEL P07_Rec Untested WXS Illumina HiSeq 9 0 ENST00000455694.2:c.123_124insGCAGG p.Gln42AlafsTer23 p.Q42Afs*23 ENST00000455694 NM_183375.2 41 tgg/tgGGCAGg 0 -PSMD10 UCSF GRCh37 X 107331324 107331324 + synonymous_variant Silent SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 35 11 63 0 ENST00000217958.3:c.219T>G p.Gly73= p.G73= ENST00000217958 NM_170750.2 73 ggT/ggG 0 -RNF133 UCSF GRCh37 7 122338115 122338115 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 289 35 165 0 ENST00000340112.2:c.858G>C p.Trp286Cys p.W286C ENST00000340112 NM_139175.1 286 tgG/tgC 0 -SDF2 UCSF GRCh37 17 26982450 26982450 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P07_Rec Untested WXS Illumina HiSeq 21 0 ENST00000247020.4:c.203del p.Ser68IlefsTer27 p.S68Ifs*27 ENST00000247020 NM_006923.3 68 aGt/at 0 -SEMA3G UCSF GRCh37 3 52474094 52474094 + synonymous_variant Silent SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 52 8 42 0 ENST00000231721.2:c.1164A>G p.Ala388= p.A388= ENST00000231721 NM_020163.1 388 gcA/gcG 0 -SGIP1 UCSF GRCh37 1 67147609 67147609 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 179 34 136 0 ENST00000371037.4:c.872T>C p.Leu291Ser p.L291S ENST00000371037 NM_032291.2 291 tTg/tCg 0 -SIGLEC12 UCSF GRCh37 19 52001516 52001516 + synonymous_variant Silent SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 52 10 82 1 ENST00000291707.3:c.1161G>C p.Ser387= p.S387= ENST00000291707 NM_053003.2 387 tcG/tcC 0 -SLC15A3 UCSF GRCh37 11 60714292 60714292 + missense_variant,splice_region_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 54 9 74 0 ENST00000227880.3:c.560T>G p.Val187Gly p.V187G ENST00000227880 NM_016582.2 187 gTg/gGg 0 -SLC1A5 UCSF GRCh37 19 47281995 47281995 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 45 14 46 0 ENST00000542575.2:c.995A>C p.Asn332Thr p.N332T ENST00000542575 NM_005628.2 332 aAc/aCc 0 -SLC22A15 UCSF GRCh37 1 116562262 116562262 + synonymous_variant Silent SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 252 35 192 0 ENST00000369503.4:c.360T>C p.Ser120= p.S120= ENST00000369503 NM_018420.2 120 agT/agC 0 -SLC24A1 UCSF GRCh37 15 65918177 65918179 + inframe_deletion In_Frame_Del DEL CTG CTG - 1000g2010nov_all P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000261892.6:c.1771_1773delCTG p.Leu591del p.L591del ENST00000261892 NM_004727.2 587 CTG/- 0 -SLC25A11 UCSF GRCh37 17 4841768 4841805 + splice_donor_variant,intron_variant Splice_Site INS AGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCA AGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCA CACCCCCCCCCCCCCCAACCCCCCCAGCCCCTCCCCCCC NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000225665.7:c.546+2_546+39delinsGGGGGGGAGGGGCTGGGGGGGTTGGGGGGGGGGGGGGTG p.X182_splice ENST00000225665 NM_001165417.1 0 -SLC39A10 UCSF GRCh37 2 196544942 196544942 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000359634.5:c.183del p.Lys61AsnfsTer26 p.K61Nfs*26 ENST00000359634 NM_020342.2 59 gAa/ga 0 -SLC3A1 UCSF GRCh37 2 44539860 44539860 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 83 15 77 0 ENST00000260649.6:c.1468G>T p.Val490Leu p.V490L ENST00000260649 NM_000341.3 490 Gta/Tta 0 -SLC41A1 UCSF GRCh37 1 205760812 205760812 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 42 8 57 0 ENST00000367137.3:c.1391T>G p.Val464Gly p.V464G ENST00000367137 NM_173854.4 464 gTg/gGg 0 -SLC4A9 UCSF GRCh37 5 139743677 139743677 + synonymous_variant Silent SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 34 8 51 2 ENST00000507527.1:c.1365A>G p.Gly455= p.G455= ENST00000507527 455 ggA/ggG 0 -SLC5A10 UCSF GRCh37 17 18923739 18923739 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 38 25 65 2 ENST00000395645.3:c.1786G>C p.Ala596Pro p.A596P ENST00000395645 NM_001042450.2 596 Gcc/Ccc 0 -SLC5A8 UCSF GRCh37 12 101588918 101588918 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0014 P07_Rec Untested WXS Illumina HiSeq 84 12 60 0 ENST00000536262.2:c.492C>T p.Gly164= p.G164= ENST00000536262 NM_145913.3 164 ggC/ggT 0 -SLC7A4 UCSF GRCh37 22 21384142 21384142 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 32 27 54 0 ENST00000382932.2:c.1481G>T p.Cys494Phe p.C494F ENST00000382932 NM_004173.2 494 tGc/tTc 0 -SMARCA4 UCSF GRCh37 19 11096909 11096909 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Rec somatic WXS Sanger Illumina HiSeq 59 10 61 0 ENST00000344626.4:c.400G>C p.Val134Leu p.V134L ENST00000344626 NM_003072.3 134 Gtt/Ctt 0 -SPATC1 UCSF GRCh37 8 145086738 145086738 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 13 12 31 0 ENST00000377470.3:c.55C>G p.Arg19Gly p.R19G ENST00000377470 NM_198572.2 19 Cgg/Ggg 0 -SRCRB4D UCSF GRCh37 7 76033635 76033635 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 27 16 56 0 ENST00000275560.3:c.122T>C p.Leu41Pro p.L41P ENST00000275560 NM_080744.1 41 cTc/cCc 0 -STOML2 UCSF GRCh37 9 35102804 35102804 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 53 8 75 0 ENST00000356493.5:c.62C>T p.Ser21Phe p.S21F ENST00000356493 NM_013442.1 21 tCt/tTt 0 -SUSD2 UCSF GRCh37 22 24583952 24583952 + synonymous_variant Silent SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 35 8 40 0 ENST00000358321.3:c.2190A>C p.Pro730= p.P730= ENST00000358321 NM_019601.3 730 ccA/ccC 0 -SUSD3 UCSF GRCh37 9 95838089 95838089 + missense_variant Missense_Mutation SNP C C A 1000g2011may_all_0.0392 P07_Rec Untested WXS Illumina HiSeq 51 11 43 0 ENST00000375472.3:c.112C>A p.Pro38Thr p.P38T ENST00000375472 NM_145006.2 38 Ccc/Acc 0 -T UCSF GRCh37 6 166576023 166576023 + synonymous_variant Silent SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 52 12 50 0 ENST00000296946.2:c.816C>T p.Ser272= p.S272= ENST00000296946 NM_003181.3 272 tcC/tcT 0 -TCEB3C UCSF GRCh37 18 44554967 44554967 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 109 13 307 0 ENST00000330682.2:c.1247A>C p.Tyr416Ser p.Y416S ENST00000330682 NM_145653.3 416 tAc/tCc 0 -TCERG1L UCSF GRCh37 10 132915117 132915117 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 54 10 84 0 ENST00000368642.4:c.1340T>C p.Leu447Pro p.L447P ENST00000368642 NM_174937.3 447 cTc/cCc 0 -TMEM144 UCSF GRCh37 4 159158783 159158783 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 58 14 88 0 ENST00000296529.6:c.670G>A p.Ala224Thr p.A224T ENST00000296529 NM_018342.4 224 Gca/Aca 0 -SMIM43 UCSF GRCh37 4 122681471 122681471 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 59 7 85 0 ENST00000337677.5:c.371C>A p.Thr124Asn p.T124N ENST00000337677 NM_152399.2 124 aCt/aAt 0 -TMEM161A UCSF GRCh37 19 19232150 19232150 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 24 9 48 1 ENST00000162044.9:c.881A>C p.His294Pro p.H294P ENST00000162044 NM_017814.2 294 cAc/cCc 0 -TMEM175 UCSF GRCh37 4 949253 949253 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 35 4 35 0 ENST00000264771.4:c.688T>G p.Cys230Gly p.C230G ENST00000264771 NM_032326.2 230 Tgc/Ggc 0 -TMEM177 UCSF GRCh37 2 120438443 120438443 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 36 6 81 0 ENST00000272521.6:c.14T>C p.Leu5Pro p.L5P ENST00000272521 NM_030577.2 5 cTg/cCg 0 -TMPRSS9 UCSF GRCh37 19 2422016 2422016 + synonymous_variant Silent SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 120 14 109 0 ENST00000332578.3:c.2217C>A p.Pro739= p.P739= ENST00000332578 NM_182973.1 739 ccC/ccA 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 17 80 72 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TPSD1 UCSF GRCh37 16 1307050 1307050 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.019 P07_Rec Untested WXS Illumina HiSeq 34 5 32 1 ENST00000211076.3:c.507C>T p.Asp169= p.D169= ENST00000211076 NM_012217.2 169 gaC/gaT 0 -TPX2 UCSF GRCh37 20 30385297 30385297 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 134 59 157 0 ENST00000300403.6:c.1924A>G p.Lys642Glu p.K642E ENST00000300403 NM_012112.4 642 Aaa/Gaa 0 -TRIM56 UCSF GRCh37 7 100732823 100732823 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 59 14 59 1 ENST00000306085.6:c.2230A>C p.Thr744Pro p.T744P ENST00000306085 NM_030961.1 744 Acc/Ccc 0 -TUBB6 UCSF GRCh37 18 12325728 12325728 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 87 57 105 0 ENST00000317702.5:c.940G>C p.Ala314Pro p.A314P ENST00000317702 314 Gcc/Ccc 0 -TUBG2 UCSF GRCh37 17 40815072 40815072 + splice_donor_variant Splice_Site SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 63 14 89 0 ENST00000251412.7:c.479+2C>A p.X160_splice ENST00000251412 NM_016437.2 0 -UGT1A3 UCSF GRCh37 2 234638624 234638624 + synonymous_variant Silent SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 81 10 165 0 ENST00000482026.1:c.852G>A p.Arg284= p.R284= ENST00000482026 284 agG/agA 0 -UPK3BL UCSF GRCh37 7 102279621 102279621 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.034,1000g2011may_all_0.1195,snp132_rs56365279 P07_Rec Untested WXS Illumina HiSeq 10 5 10 0 ENST00000340457.8:c.511G>A p.Glu171Lys p.E171K ENST00000340457 NM_001114403.2 171 Gaa/Aaa 0 -USP21 UCSF GRCh37 1 161132755 161132755 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 115 13 95 0 ENST00000289865.8:c.940C>A p.His314Asn p.H314N ENST00000289865 NM_012475.4 314 Cac/Aac 0 -VAX1 UCSF GRCh37 10 118893633 118893633 + synonymous_variant Silent SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 10 4 20 0 ENST00000369206.5:c.891T>G p.Gly297= p.G297= ENST00000369206 NM_001112704.1 297 ggT/ggG 0 -VGF UCSF GRCh37 7 100806737 100806737 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 24 9 22 0 ENST00000249330.2:c.1388A>C p.His463Pro p.H463P ENST00000249330 NM_003378.3 463 cAc/cCc 0 -ZCCHC16 UCSF GRCh37 X 111698509 111698513 + frameshift_variant Frame_Shift_Del DEL GAAAA GAAAA - NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000340433.2:c.554_558del p.Glu185GlyfsTer4 p.E185Gfs*4 ENST00000340433 NM_001004308.2 185 GAAAAg/g 0 -ZNRF3 UCSF GRCh37 22 29445795 29445795 + stop_gained Nonsense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 30 7 56 0 ENST00000544604.2:c.1626C>A p.Tyr542Ter p.Y542* ENST00000544604 NM_001206998.1 542 taC/taA 0 -ACR UCSF GRCh37 22 51178337 51178337 + missense_variant Missense_Mutation SNP T T G NOVEL P08_Pri Untested WXS Illumina HiSeq 48 34 91 0 ENST00000216139.5:c.497T>G p.Phe166Cys p.F166C ENST00000216139 NM_001097.2 166 tTt/tGt 0 -ATR UCSF GRCh37 3 142176497 142176497 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P08_Pri Untested WXS Illumina HiSeq 25 0 ENST00000350721.4:c.7604del p.Ala2535AspfsTer6 p.A2535Dfs*6 ENST00000350721 NM_001184.3 2535 gCa/ga 0 -ATRX UCSF GRCh37 X 76938089 76938090 + frameshift_variant Frame_Shift_Del DEL TC TC - NOVEL P08_Pri Untested WXS Illumina HiSeq 26 0 ENST00000373344.5:c.2658_2659del p.Glu886AspfsTer10 p.E886Dfs*10 ENST00000373344 NM_000489.3 886 gaGAct/gact 0 -BMP10 UCSF GRCh37 2 69092971 69092971 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 62 13 141 0 ENST00000295379.1:c.1067G>A p.Cys356Tyr p.C356Y ENST00000295379 NM_014482.1 356 tGt/tAt 0 -CCDC91 UCSF GRCh37 12 28603099 28603099 + missense_variant Missense_Mutation SNP G G T NOVEL P08_Pri Untested WXS Illumina HiSeq 74 15 153 0 ENST00000381259.1:c.768G>T p.Gln256His p.Q256H ENST00000381259 NM_018318.3 256 caG/caT 0 -CNOT6 UCSF GRCh37 5 179977041 179977041 + missense_variant Missense_Mutation SNP A A C NOVEL P08_Pri Untested WXS Illumina HiSeq 61 7 152 0 ENST00000261951.4:c.223A>C p.Asn75His p.N75H ENST00000261951 NM_015455.3 75 Aat/Cat 0 -COG4 UCSF GRCh37 16 70551568 70551568 + synonymous_variant Silent SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 58 8 131 0 ENST00000323786.5:c.330G>A p.Glu110= p.E110= ENST00000323786 NM_015386.2 110 gaG/gaA 0 -CPNE8 UCSF GRCh37 12 39047732 39047732 + synonymous_variant Silent SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 43 23 95 0 ENST00000331366.5:c.1647G>A p.Ala549= p.A549= ENST00000331366 NM_153634.2 549 gcG/gcA 0 -DDX60 UCSF GRCh37 4 169194524 169194524 + missense_variant Missense_Mutation SNP G G C NOVEL P08_Pri Untested WXS Illumina HiSeq 61 12 173 0 ENST00000393743.3:c.2480C>G p.Thr827Ser p.T827S ENST00000393743 NM_017631.5 827 aCt/aGt 0 -FANCF UCSF GRCh37 11 22646911 22646911 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Pri Untested WXS Illumina HiSeq 42 19 170 0 ENST00000327470.3:c.446A>G p.Asn149Ser p.N149S ENST00000327470 NM_022725.3 149 aAt/aGt 0 -GGT7 UCSF GRCh37 20 33440238 33440238 + stop_gained Nonsense_Mutation SNP G G A NOVEL P08_Pri Untested WXS Illumina HiSeq 34 15 92 0 ENST00000336431.5:c.1423C>T p.Gln475Ter p.Q475* ENST00000336431 NM_178026.2 475 Cag/Tag 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 65 20 143 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -MSTN UCSF GRCh37 2 190925003 190925003 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Pri Untested WXS Illumina HiSeq 77 38 204 0 ENST00000260950.4:c.532A>G p.Lys178Glu p.K178E ENST00000260950 NM_005259.2 178 Aaa/Gaa 0 -MYF5 UCSF GRCh37 12 81110945 81110945 + stop_gained Nonsense_Mutation SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 21 6 46 0 ENST00000228644.3:c.103C>T p.Arg35Ter p.R35* ENST00000228644 NM_005593.2 35 Cga/Tga 0 -NBAS UCSF GRCh37 2 15679476 15679476 + synonymous_variant Silent SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 68 15 152 0 ENST00000281513.5:c.384G>A p.Pro128= p.P128= ENST00000281513 NM_015909.3 128 ccG/ccA 0 -PIK3C2B UCSF GRCh37 1 204400818 204400818 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P08_Pri Untested WXS Illumina HiSeq 6 0 ENST00000367187.3:c.4259del p.Phe1420SerfsTer14 p.F1420Sfs*14 ENST00000367187 NM_002646.3 1420 tTc/tc 0 -PRMT5 UCSF GRCh37 14 23396859 23396859 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Pri somatic WXS Sanger Illumina HiSeq 52 20 110 0 ENST00000324366.8:c.326A>G p.Gln109Arg p.Q109R ENST00000324366 NM_006109.3 109 cAg/cGg 0 -RP1 UCSF GRCh37 8 55538949 55538949 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 92 18 144 0 ENST00000220676.1:c.2507C>T p.Pro836Leu p.P836L ENST00000220676 NM_006269.1 836 cCg/cTg 0 -TBCE UCSF GRCh37 1 235600735 235600735 + synonymous_variant Silent SNP G G A NOVEL P08_Pri Untested WXS Illumina HiSeq 34 23 97 0 ENST00000366601.3:c.1062G>A p.Ala354= p.A354= ENST00000366601 354 gcG/gcA 0 -TP53 UCSF GRCh37 17 7577099 7577099 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 10 20 65 0 ENST00000269305.4:c.839G>A p.Arg280Lys p.R280K ENST00000269305 NM_001126112.2 280 aGa/aAa 0 -USH2A UCSF GRCh37 1 215901628 215901628 + missense_variant Missense_Mutation SNP A A G NOVEL P08_Pri Untested WXS Illumina HiSeq 55 19 179 0 ENST00000307340.3:c.11810T>C p.Leu3937Pro p.L3937P ENST00000307340 NM_206933.2 3937 cTc/cCc 0 -USH2A UCSF GRCh37 1 216363700 216363700 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Pri Untested WXS Illumina HiSeq 80 25 185 0 ENST00000307340.3:c.4261A>G p.Thr1421Ala p.T1421A ENST00000307340 NM_206933.2 1421 Act/Gct 0 -WDR63 UCSF GRCh37 1 85583512 85583512 + missense_variant Missense_Mutation SNP C C G NOVEL P08_Pri Untested WXS Illumina HiSeq 64 33 194 0 ENST00000294664.6:c.1887C>G p.Asp629Glu p.D629E ENST00000294664 NM_145172.3 629 gaC/gaG 0 -ZBTB20 UCSF GRCh37 3 114070562 114070564 + inframe_deletion In_Frame_Del DEL CAC CAC - NOVEL P08_Pri Untested WXS Illumina HiSeq 10 0 ENST00000474710.1:c.361_363del p.Val121del p.V121del ENST00000474710 NM_001164342.1 121 GTG/- 0 -ACR UCSF GRCh37 22 51178337 51178337 + missense_variant Missense_Mutation SNP T T G NOVEL P08_Rec Untested WXS Illumina HiSeq 61 46 91 0 ENST00000216139.5:c.497T>G p.Phe166Cys p.F166C ENST00000216139 NM_001097.2 166 tTt/tGt 0 -APOH UCSF GRCh37 17 64210715 64210718 + frameshift_variant Frame_Shift_Del DEL CTCT CTCT - NOVEL P08_Rec Untested WXS Illumina HiSeq 14 0 ENST00000205948.6:c.835_838del p.Arg279Ter p.R279* ENST00000205948 NM_000042.2 279 AGAGta/ta 0 -ATR UCSF GRCh37 3 142176497 142176497 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P08_Rec Untested WXS Illumina HiSeq 48 0 ENST00000350721.4:c.7604del p.Ala2535AspfsTer6 p.A2535Dfs*6 ENST00000350721 NM_001184.3 2535 gCa/ga 0 -ATRX UCSF GRCh37 X 76938089 76938090 + frameshift_variant Frame_Shift_Del DEL TC TC - NOVEL P08_Rec Untested WXS Illumina HiSeq 72 0 ENST00000373344.5:c.2658_2659del p.Glu886AspfsTer10 p.E886Dfs*10 ENST00000373344 NM_000489.3 886 gaGAct/gact 0 -CARM1 UCSF GRCh37 19 11024651 11024651 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 26 21 46 0 ENST00000327064.4:c.768G>A p.Ser256= p.S256= ENST00000327064 NM_199141.1 256 tcG/tcA 0 -CASP5 UCSF GRCh37 11 104869682 104869682 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 71 50 149 0 ENST00000260315.3:c.1026C>T p.Asn342= p.N342= ENST00000260315 342 aaC/aaT 0 -CENPQ UCSF GRCh37 6 49438702 49438702 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P08_Rec Untested WXS Illumina HiSeq 6 0 ENST00000335783.3:c.125del p.Asn42IlefsTer5 p.N42Ifs*5 ENST00000335783 NM_018132.3 40 Aaa/aa 0 -CNOT6 UCSF GRCh37 5 179977041 179977041 + missense_variant Missense_Mutation SNP A A C NOVEL P08_Rec Untested WXS Illumina HiSeq 24 76 152 0 ENST00000261951.4:c.223A>C p.Asn75His p.N75H ENST00000261951 NM_015455.3 75 Aat/Cat 0 -COL12A1 UCSF GRCh37 6 75829108 75829108 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 88 50 196 0 ENST00000322507.8:c.7168G>A p.Ala2390Thr p.A2390T ENST00000322507 NM_004370.5 2390 Gcc/Acc 0 -COL27A1 UCSF GRCh37 9 117002729 117002729 + stop_gained Nonsense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 60 44 101 0 ENST00000356083.3:c.2797C>T p.Arg933Ter p.R933* ENST00000356083 NM_032888.2 933 Cga/Tga 0 -CPNE8 UCSF GRCh37 12 39047732 39047732 + synonymous_variant Silent SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 55 33 95 0 ENST00000331366.5:c.1647G>A p.Ala549= p.A549= ENST00000331366 NM_153634.2 549 gcG/gcA 0 -CSPG4 UCSF GRCh37 15 75982257 75982257 + synonymous_variant Silent SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 30 4 31 1 ENST00000308508.5:c.1149G>A p.Glu383= p.E383= ENST00000308508 NM_001897.4 383 gaG/gaA 0 -CUL9 UCSF GRCh37 6 43190347 43190347 + missense_variant Missense_Mutation SNP G G T NOVEL P08_Rec Untested WXS Illumina HiSeq 16 11 40 0 ENST00000252050.4:c.7000G>T p.Asp2334Tyr p.D2334Y ENST00000252050 NM_015089.2 2334 Gat/Tat 0 -CYSLTR1 UCSF GRCh37 X 77528900 77528900 + missense_variant Missense_Mutation SNP G G C NOVEL P08_Rec Untested WXS Illumina HiSeq 19 44 63 0 ENST00000373304.3:c.344C>G p.Thr115Arg p.T115R ENST00000373304 NM_001282188.1 115 aCa/aGa 0 -DDX60 UCSF GRCh37 4 169194524 169194524 + missense_variant Missense_Mutation SNP G G C NOVEL P08_Rec Untested WXS Illumina HiSeq 13 53 173 0 ENST00000393743.3:c.2480C>G p.Thr827Ser p.T827S ENST00000393743 NM_017631.5 827 aCt/aGt 0 -DTNA UCSF GRCh37 18 32407604 32407604 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 14 119 184 0 ENST00000399113.3:c.1058C>T p.Ser353Phe p.S353F ENST00000399113 353 tCt/tTt 0 -EIF2AK3 UCSF GRCh37 2 88874385 88874385 + synonymous_variant Silent SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 123 89 254 0 ENST00000303236.3:c.2616A>G p.Thr872= p.T872= ENST00000303236 NM_004836.5 872 acA/acG 0 -FANCF UCSF GRCh37 11 22646911 22646911 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 65 55 170 0 ENST00000327470.3:c.446A>G p.Asn149Ser p.N149S ENST00000327470 NM_022725.3 149 aAt/aGt 0 -FCRL6 UCSF GRCh37 1 159779338 159779338 + missense_variant Missense_Mutation SNP C C G NOVEL P08_Rec Untested WXS Illumina HiSeq 42 36 99 0 ENST00000368106.3:c.751C>G p.His251Asp p.H251D ENST00000368106 NM_001004310.2 251 Cac/Gac 0 -GGT7 UCSF GRCh37 20 33440238 33440238 + stop_gained Nonsense_Mutation SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 41 42 92 0 ENST00000336431.5:c.1423C>T p.Gln475Ter p.Q475* ENST00000336431 NM_178026.2 475 Cag/Tag 0 -GNAS UCSF GRCh37 20 57429479 57429479 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 20 14 33 0 ENST00000371100.4:c.1159T>C p.Ser387Pro p.S387P ENST00000371100 NM_001077490.1 387 Tca/Cca 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 92 62 143 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IFRD2 UCSF GRCh37 3 50326696 50326696 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 13 8 36 0 ENST00000417626.2:c.875G>A p.Arg292Gln p.R292Q ENST00000417626 NM_006764.4 292 cGg/cAg 0 -IGSF10 UCSF GRCh37 3 151165459 151165459 + missense_variant Missense_Mutation SNP G G C NOVEL P08_Rec Untested WXS Illumina HiSeq 76 63 139 0 ENST00000282466.3:c.2310C>G p.Asp770Glu p.D770E ENST00000282466 NM_178822.4 770 gaC/gaG 0 -INTS1 UCSF GRCh37 7 1515927 1515927 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 13 8 18 0 ENST00000404767.3:c.5316C>T p.Asp1772= p.D1772= ENST00000404767 NM_001080453.2 1772 gaC/gaT 0 -KIAA0564 UCSF GRCh37 13 42295529 42295529 + missense_variant Missense_Mutation SNP C C A NOVEL P08_Rec Untested WXS Illumina HiSeq 109 59 207 1 ENST00000379310.3:c.2941G>T p.Val981Phe p.V981F ENST00000379310 NM_015058.1 981 Gtc/Ttc 0 -LDHB UCSF GRCh37 12 21791391 21791411 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region DEL ACTCCACACAGCCACTGTTTA ACTCCACACAGCCACTGTTTA CCTCCACACAGCCCCTGTTT NOVEL P08_Rec Untested WXS Illumina HiSeq 8 0 ENST00000350669.1:c.596-7_609delinsAAACAGGGGCTGTGTGGAGG p.X199_splice ENST00000350669 NM_002300.6 0 -MAPK14 UCSF GRCh37 6 35996040 35996040 + missense_variant Missense_Mutation SNP G G T NOVEL P08_Rec Untested WXS Illumina HiSeq 14 11 38 0 ENST00000229794.4:c.106G>T p.Gly36Cys p.G36C ENST00000229794 NM_139012.2 36 Ggc/Tgc 0 -MBNL1 UCSF GRCh37 3 152132729 152132729 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 101 71 151 0 ENST00000282486.6:c.175-1G>A p.X59_splice ENST00000282486 0 -MLLT4 UCSF GRCh37 6 168299038 168299038 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P08_Rec Untested WXS Illumina HiSeq 41 0 ENST00000447894.2:c.1473del p.Phe491LeufsTer27 p.F491Lfs*27 ENST00000447894 491 Ttt/tt 0 -MPO UCSF GRCh37 17 56349077 56349077 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 26 24 75 0 ENST00000225275.3:c.1969G>A p.Val657Met p.V657M ENST00000225275 NM_000250.1 657 Gtg/Atg 0 -MSTN UCSF GRCh37 2 190925003 190925003 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 112 82 204 0 ENST00000260950.4:c.532A>G p.Lys178Glu p.K178E ENST00000260950 NM_005259.2 178 Aaa/Gaa 0 -MUC2 UCSF GRCh37 11 1103572 1103572 + missense_variant Missense_Mutation SNP G G T NOVEL P08_Rec Untested WXS Illumina HiSeq 13 2 23 0 ENST00000441003.2:c.8085G>T p.Met2695Ile p.M2695I ENST00000441003 NM_002457.2 2695 atG/atT 0 -MYF5 UCSF GRCh37 12 81110945 81110945 + stop_gained Nonsense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 34 21 46 0 ENST00000228644.3:c.103C>T p.Arg35Ter p.R35* ENST00000228644 NM_005593.2 35 Cga/Tga 0 -MYO1A UCSF GRCh37 12 57423580 57423580 + stop_gained Nonsense_Mutation SNP C C A NOVEL P08_Rec Untested WXS Illumina HiSeq 72 47 93 0 ENST00000300119.3:c.2668G>T p.Glu890Ter p.E890* ENST00000300119 NM_005379.3 890 Gag/Tag 0 -NKX2-2 UCSF GRCh37 20 21492891 21492892 + inframe_insertion In_Frame_Ins INS - - GAGGCTGGCCAG NOVEL P08_Rec Untested WXS Illumina HiSeq 8 0 ENST00000377142.4:c.492_493insTGGCCAGCCTCC p.Leu164_Ile165insTrpProAlaSer p.L164_I165insWPAS ENST00000377142 NM_002509.3 164 ctc/ctCTGGCCAGCCTCc 0 -NPTX2 UCSF GRCh37 7 98254278 98254278 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 82 78 158 0 ENST00000265634.3:c.688C>T p.Pro230Ser p.P230S ENST00000265634 NM_002523.2 230 Cca/Tca 0 -OR2L2 UCSF GRCh37 1 248202417 248202417 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 166 109 234 0 ENST00000366479.2:c.848T>C p.Met283Thr p.M283T ENST00000366479 NM_001004686.2 283 aTg/aCg 0 -OR51B4 UCSF GRCh37 11 5322448 5322448 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 67 50 163 0 ENST00000380224.1:c.729C>T p.Ser243= p.S243= ENST00000380224 NM_033179.2 243 agC/agT 0 -OR5M9 UCSF GRCh37 11 56230866 56230866 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 29 30 85 0 ENST00000279791.1:c.12C>T p.Phe4= p.F4= ENST00000279791 NM_001004743.1 4 ttC/ttT 0 -OR6N2 UCSF GRCh37 1 158746563 158746563 + missense_variant Missense_Mutation SNP A A T NOVEL P08_Rec Untested WXS Illumina HiSeq 116 86 239 0 ENST00000339258.1:c.863T>A p.Ile288Asn p.I288N ENST00000339258 NM_001005278.1 288 aTt/aAt 0 -PDCL UCSF GRCh37 9 125585446 125585446 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 97 69 178 0 ENST00000259467.4:c.203G>A p.Arg68His p.R68H ENST00000259467 NM_005388.4 68 cGc/cAc 0 -PLD3 UCSF GRCh37 19 40882596 40882596 + stop_gained Nonsense_Mutation SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 33 4 65 0 ENST00000356508.5:c.1100G>A p.Trp367Ter p.W367* ENST00000356508 NM_001031696.2 367 tGg/tAg 0 -PLIN2 UCSF GRCh37 9 19123586 19123586 + missense_variant Missense_Mutation SNP T T A NOVEL P08_Rec Untested WXS Illumina HiSeq 123 72 189 0 ENST00000276914.2:c.286A>T p.Ile96Phe p.I96F ENST00000276914 NM_001122.3 96 Att/Ttt 0 -PRMT5 UCSF GRCh37 14 23396859 23396859 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Rec somatic WXS Sanger Illumina HiSeq 87 55 110 0 ENST00000324366.8:c.326A>G p.Gln109Arg p.Q109R ENST00000324366 NM_006109.3 109 cAg/cGg 0 -RNASEL UCSF GRCh37 1 182550475 182550475 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 129 105 195 0 ENST00000367559.3:c.1790G>A p.Arg597Gln p.R597Q ENST00000367559 NM_021133.3 597 cGg/cAg 0 -SHISA3 UCSF GRCh37 4 42403378 42403378 + synonymous_variant Silent SNP T T G NOVEL P08_Rec Untested WXS Illumina HiSeq 61 25 101 0 ENST00000319234.4:c.627T>G p.Gly209= p.G209= ENST00000319234 NM_001080505.1 209 ggT/ggG 0 -SLC6A13 UCSF GRCh37 12 332297 332297 + splice_donor_variant Splice_Site SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 29 16 63 0 ENST00000343164.4:c.1414+1G>A p.X472_splice ENST00000343164 NM_016615.4 0 -SLC6A3 UCSF GRCh37 5 1441532 1441532 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 26 18 59 0 ENST00000270349.9:c.360C>T p.Leu120= p.L120= ENST00000270349 NM_001044.4 120 ctC/ctT 0 -SSC5D UCSF GRCh37 19 56001358 56001358 + synonymous_variant Silent SNP A A T NOVEL P08_Rec Untested WXS Illumina HiSeq 3 11 30 0 ENST00000389623.6:c.471A>T p.Thr157= p.T157= ENST00000389623 NM_001144950.1 157 acA/acT 0 -TBCE UCSF GRCh37 1 235600735 235600735 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 57 37 97 0 ENST00000366601.3:c.1062G>A p.Ala354= p.A354= ENST00000366601 354 gcG/gcA 0 -TCP10L2 UCSF GRCh37 6 167585753 167585753 + missense_variant Missense_Mutation SNP G G T NOVEL P08_Rec Untested WXS Illumina HiSeq 27 5 46 0 ENST00000366832.2:c.121G>T p.Asp41Tyr p.D41Y ENST00000366832 NM_001145121.1 41 Gac/Tac 0 -TNRC6A UCSF GRCh37 16 24802604 24802604 + missense_variant Missense_Mutation SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 74 60 153 0 ENST00000395799.3:c.2641G>A p.Asp881Asn p.D881N ENST00000395799 NM_014494.2 881 Gac/Aac 0 -TP53 UCSF GRCh37 17 7577099 7577099 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 7 81 65 0 ENST00000269305.4:c.839G>A p.Arg280Lys p.R280K ENST00000269305 NM_001126112.2 280 aGa/aAa 0 -TTLL3 UCSF GRCh37 3 9852311 9852311 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 15 3 23 0 ENST00000426895.4:c.395C>T p.Pro132Leu p.P132L ENST00000426895 132 cCg/cTg 0 -TTN UCSF GRCh37 2 179568917 179568917 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 127 91 255 0 ENST00000591111.1:c.29229C>T p.Cys9743= p.C9743= ENST00000591111 9743 tgC/tgT 0 -USH2A UCSF GRCh37 1 215901628 215901628 + missense_variant Missense_Mutation SNP A A G NOVEL P08_Rec Untested WXS Illumina HiSeq 85 53 179 0 ENST00000307340.3:c.11810T>C p.Leu3937Pro p.L3937P ENST00000307340 NM_206933.2 3937 cTc/cCc 0 -USH2A UCSF GRCh37 1 216144109 216144109 + missense_variant Missense_Mutation SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 189 27 196 0 ENST00000307340.3:c.6815C>T p.Thr2272Met p.T2272M ENST00000307340 NM_206933.2 2272 aCg/aTg 0 -USH2A UCSF GRCh37 1 216363700 216363700 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 108 66 185 0 ENST00000307340.3:c.4261A>G p.Thr1421Ala p.T1421A ENST00000307340 NM_206933.2 1421 Act/Gct 0 -USP29 UCSF GRCh37 19 57640261 57640261 + missense_variant Missense_Mutation SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 78 9 127 0 ENST00000254181.4:c.218G>A p.Arg73His p.R73H ENST00000254181 NM_020903.2 73 cGt/cAt 0 -WBSCR28 UCSF GRCh37 7 73279585 73279585 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 46 6 38 0 ENST00000320531.2:c.335C>T p.Ala112Val p.A112V ENST00000320531 NM_182504.3 112 gCc/gTc 0 -WDR63 UCSF GRCh37 1 85583512 85583512 + missense_variant Missense_Mutation SNP C C G NOVEL P08_Rec Untested WXS Illumina HiSeq 102 85 194 0 ENST00000294664.6:c.1887C>G p.Asp629Glu p.D629E ENST00000294664 NM_145172.3 629 gaC/gaG 0 -WT1 UCSF GRCh37 11 32449529 32449529 + missense_variant Missense_Mutation SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 11 6 17 0 ENST00000332351.3:c.845C>T p.Ala282Val p.A282V ENST00000332351 NM_024426.4 282 gCt/gTt 0 -XPO6 UCSF GRCh37 16 28146612 28146612 + synonymous_variant Silent SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 70 50 114 0 ENST00000304658.5:c.1368G>A p.Glu456= p.E456= ENST00000304658 NM_015171.3 456 gaG/gaA 0 -ZNF596 UCSF GRCh37 8 193006 193006 + synonymous_variant Silent SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 67 36 89 0 ENST00000308811.4:c.132C>T p.Val44= p.V44= ENST00000308811 NM_173539.2 44 gtC/gtT 0 -ZNF804B UCSF GRCh37 7 88962812 88962812 + synonymous_variant Silent SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 98 75 209 0 ENST00000333190.4:c.516T>C p.Asn172= p.N172= ENST00000333190 NM_181646.2 172 aaT/aaC 0 -ATRX UCSF GRCh37 X 76954101 76954101 + synonymous_variant Silent SNP A A G NOVEL P09_Pri Untested WXS Illumina HiSeq 8 56 69 0 ENST00000373344.5:c.150T>C p.Ser50= p.S50= ENST00000373344 NM_000489.3 50 tcT/tcC 0 -GAGE2D UCSF GRCh37 X 49208299 49208313 + protein_altering_variant In_Frame_Ins INS CGGCCTAGACCAAGA CGGCCTAGACCAAGA TATTGGCCTAGACCAAGG NOVEL P09_Pri Untested WXS Illumina HiSeq 8 0 ENST00000404720.2:c.28_42delinsTATTGGCCTAGACCAAGG p.Arg10delinsTyrTrp p.R10delinsYW ENST00000404720 NM_001098407.1 10 CGGCCTAGACCAAGA/TATTGGCCTAGACCAAGG 0 -GOLGA6B UCSF GRCh37 15 72954702 72954702 + synonymous_variant Silent SNP A A G snp132_rs74793989 P09_Pri Untested WXS Illumina HiSeq 29 4 76 1 ENST00000421285.3:c.957A>G p.Gln319= p.Q319= ENST00000421285 NM_018652.4 319 caA/caG 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P09_Pri Untested WXS Illumina HiSeq 47 40 81 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -OR4C6 UCSF GRCh37 11 55433016 55433016 + missense_variant Missense_Mutation SNP G G T NOVEL P09_Pri somatic WXS Sanger Illumina HiSeq 59 22 107 0 ENST00000314259.3:c.374G>T p.Cys125Phe p.C125F ENST00000314259 NM_001004704.1 125 tGt/tTt 0 -PDE4DIP UCSF GRCh37 1 144886132 144886132 + synonymous_variant Silent SNP A A G NOVEL P09_Pri Untested WXS Illumina HiSeq 91 33 144 0 ENST00000369354.3:c.3102T>C p.Ile1034= p.I1034= ENST00000369354 1034 atT/atC 0 -SLC38A10 UCSF GRCh37 17 79268677 79268677 + synonymous_variant Silent SNP G G A NOVEL P09_Pri Untested WXS Illumina HiSeq 29 11 35 0 ENST00000374759.3:c.45C>T p.Ile15= p.I15= ENST00000374759 NM_001037984.1 15 atC/atT 0 -TP53 UCSF GRCh37 17 7578479 7578479 + missense_variant Missense_Mutation SNP G G C NOVEL P09_Pri Untested WXS Illumina HiSeq 4 32 48 0 ENST00000269305.4:c.451C>G p.Pro151Ala p.P151A ENST00000269305 NM_001126112.2 151 Ccc/Gcc 0 -UGT2A3 UCSF GRCh37 4 69817137 69817138 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P09_Pri Untested WXS Illumina HiSeq 12 0 ENST00000251566.4:c.342dup p.Val115CysfsTer2 p.V115Cfs*2 ENST00000251566 NM_024743.3 114 ttt/ttTt 0 -ABCB4 UCSF GRCh37 7 87079392 87079392 + missense_variant Missense_Mutation SNP C C T NOVEL P09_Rec Untested WXS Illumina HiSeq 124 49 92 0 ENST00000265723.4:c.725G>A p.Ser242Asn p.S242N ENST00000265723 NM_000443.3 242 aGt/aAt 0 -ASB14 UCSF GRCh37 3 57322030 57322030 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P09_Rec Untested WXS Illumina HiSeq 6 0 ENST00000389601.3:c.371del p.Leu124TrpfsTer8 p.L124Wfs*8 ENST00000389601 NM_130387.5 124 tTg/tg 0 -ATRX UCSF GRCh37 X 76954101 76954101 + synonymous_variant Silent SNP A A G NOVEL P09_Rec Untested WXS Illumina HiSeq 71 42 69 0 ENST00000373344.5:c.150T>C p.Ser50= p.S50= ENST00000373344 NM_000489.3 50 tcT/tcC 0 -LIAT1 UCSF GRCh37 17 263615 263615 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0396,snp132_rs75457484 P09_Rec Untested WXS Illumina HiSeq 45 6 23 1 ENST00000360127.6:c.981C>T p.Pro327= p.P327= ENST00000360127 NM_001013672.4 327 ccC/ccT 0 -CCHCR1 UCSF GRCh37 6 31113527 31113527 + missense_variant Missense_Mutation SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 89 40 49 1 ENST00000376266.5:c.1372C>T p.Pro458Ser p.P458S ENST00000376266 NM_019052.3 458 Ccc/Tcc 0 -DYSF UCSF GRCh37 2 71896760 71896760 + missense_variant Missense_Mutation SNP A A G NOVEL P09_Rec Untested WXS Illumina HiSeq 130 46 99 0 ENST00000258104.3:c.5551A>G p.Lys1851Glu p.K1851E ENST00000258104 NM_003494.3 1851 Aag/Gag 0 -DYSF UCSF GRCh37 2 71896763 71896763 + missense_variant Missense_Mutation SNP C C G NOVEL P09_Rec Untested WXS Illumina HiSeq 126 46 97 0 ENST00000258104.3:c.5554C>G p.Gln1852Glu p.Q1852E ENST00000258104 NM_003494.3 1852 Caa/Gaa 0 -FAM46B UCSF GRCh37 1 27333030 27333038 + frameshift_variant Frame_Shift_Del DEL AGCAACAGG AGCAACAGG CGACA NOVEL P09_Rec Untested WXS Illumina HiSeq 14 0 ENST00000289166.5:c.675_683delinsTGTCG p.Leu226ValfsTer97 p.L226Vfs*97 ENST00000289166 NM_052943.3 225 tcCCTGTTGCTc/tcTGTCGc 0 -FAM48B2 UCSF GRCh37 X 24330042 24330042 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P09_Rec Untested WXS Illumina HiSeq 16 6 18 0 ENST00000536351.1:n.1391G>A *464* ENST00000536351 0 -GAGE2D UCSF GRCh37 X 49208299 49208313 + protein_altering_variant In_Frame_Ins INS CGGCCTAGACCAAGA CGGCCTAGACCAAGA TATTGGCCTAGACCAAGG NOVEL P09_Rec Untested WXS Illumina HiSeq 6 0 ENST00000404720.2:c.28_42delinsTATTGGCCTAGACCAAGG p.Arg10delinsTyrTrp p.R10delinsYW ENST00000404720 NM_001098407.1 10 CGGCCTAGACCAAGA/TATTGGCCTAGACCAAGG 0 -HHIP UCSF GRCh37 4 145580034 145580034 + missense_variant Missense_Mutation SNP A A G NOVEL P09_Rec Untested WXS Illumina HiSeq 95 22 117 0 ENST00000296575.3:c.565A>G p.Arg189Gly p.R189G ENST00000296575 NM_022475.2 189 Aga/Gga 0 -HLA-C UCSF GRCh37 6 31239060 31239060 + missense_variant Missense_Mutation SNP A A G 1000g2010nov_all_0.113,1000g2011may_all_0.1122,snp132_rs114934942 P09_Rec Untested WXS Illumina HiSeq 50 16 31 1 ENST00000376228.5:c.409T>C p.Tyr137His p.Y137H ENST00000376228 NM_002117.5 137 Tat/Cat 0 -HLA-G UCSF GRCh37 6 29797406 29797406 + synonymous_variant Silent SNP G G A snp132_rs79264452 P09_Rec Untested WXS Illumina HiSeq 117 18 90 1 ENST00000360323.6:c.831G>A p.Glu277= p.E277= ENST00000360323 277 gaG/gaA 0 -HLA-G UCSF GRCh37 6 29797436 29797436 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.113,snp132_rs115797657 P09_Rec Untested WXS Illumina HiSeq 110 18 74 1 ENST00000360323.6:c.861T>C p.His287= p.H287= ENST00000360323 287 caT/caC 0 -HOXB2 UCSF GRCh37 17 46622047 46622047 + missense_variant Missense_Mutation SNP G G C NOVEL P09_Rec Untested WXS Illumina HiSeq 34 5 36 0 ENST00000330070.4:c.227C>G p.Pro76Arg p.P76R ENST00000330070 NM_002145.3 76 cCt/cGt 0 -ICK UCSF GRCh37 6 52880927 52880927 + missense_variant Missense_Mutation SNP C C G NOVEL P09_Rec Untested WXS Illumina HiSeq 120 32 107 0 ENST00000350082.5:c.785G>C p.Arg262Thr p.R262T ENST00000350082 NM_014920.3 262 aGa/aCa 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P09_Rec Untested WXS Illumina HiSeq 119 30 81 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGF2 UCSF GRCh37 11 2154787 2154794 + frameshift_variant Frame_Shift_Del DEL TTGGCGGG TTGGCGGG - NOVEL P09_Rec Untested WXS Illumina HiSeq 10 0 ENST00000300632.5:c.259_266del p.Pro87ValfsTer28 p.P87Vfs*28 ENST00000300632 NM_001007139.4 87 CCCGCCAAg/g 0 -INTS6 UCSF GRCh37 13 51957526 51957529 + frameshift_variant Frame_Shift_Del DEL TGCT TGCT - NOVEL P09_Rec Untested WXS Illumina HiSeq 17 0 ENST00000311234.4:c.1116_1119del p.Ala373Ter p.A373* ENST00000311234 NM_012141.2 372 acAGCA/ac 0 -JARID2 UCSF GRCh37 6 15468893 15468893 + missense_variant Missense_Mutation SNP C C T NOVEL P09_Rec Untested WXS Illumina HiSeq 187 61 85 0 ENST00000341776.2:c.614C>T p.Ser205Leu p.S205L ENST00000341776 NM_004973.3 205 tCa/tTa 0 -MUC4 UCSF GRCh37 3 195507919 195507919 + missense_variant Missense_Mutation SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 36 9 57 1 ENST00000463781.3:c.10532C>T p.Ser3511Phe p.S3511F ENST00000463781 NM_018406.6 3511 tCc/tTc 0 -NUDT10 UCSF GRCh37 X 51075841 51075841 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.07393,1000g2011may_all_0.2097,snp132_rs2625875 P09_Rec Untested WXS Illumina HiSeq 28 4 19 0 ENST00000356450.2:c.24A>G p.Thr8= p.T8= ENST00000356450 8 acA/acG 0 -NUDT10 UCSF GRCh37 X 51076024 51076024 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.00397,1000g2011may_all_0.0126,snp132_rs2801626 P09_Rec Untested WXS Illumina HiSeq 36 4 34 0 ENST00000356450.2:c.207G>A p.Glu69= p.E69= ENST00000356450 69 gaG/gaA 0 -OAS2 UCSF GRCh37 12 113448284 113448309 + stop_lost,3_prime_UTR_variant Nonstop_Mutation DEL TTCTAGAGATCATCTGGCAATCGCTT TTCTAGAGATCATCTGGCAATCGCTT - NOVEL P09_Rec Untested WXS Illumina HiSeq 26 0 ENST00000342315.4:c.2157_*22del *719* ENST00000342315 NM_016817.2 719 0 -OR10C1 UCSF GRCh37 6 29408542 29408542 + missense_variant Missense_Mutation SNP C C G NOVEL P09_Rec Untested WXS Illumina HiSeq 165 105 115 0 ENST00000444197.2:c.750C>G p.Phe250Leu p.F250L ENST00000444197 NM_013941.3 250 ttC/ttG 0 -OR11G2 UCSF GRCh37 14 20665692 20665692 + synonymous_variant Silent SNP T T C NOVEL P09_Rec Untested WXS Illumina HiSeq 87 36 66 0 ENST00000357366.3:c.198T>C p.Phe66= p.F66= ENST00000357366 NM_001005503.1 66 ttT/ttC 0 -OR4C6 UCSF GRCh37 11 55433016 55433016 + missense_variant Missense_Mutation SNP G G T NOVEL P09_Rec somatic WXS Sanger Illumina HiSeq 87 41 107 0 ENST00000314259.3:c.374G>T p.Cys125Phe p.C125F ENST00000314259 NM_001004704.1 125 tGt/tTt 0 -PCF11 UCSF GRCh37 11 82877718 82877718 + synonymous_variant Silent SNP T T C NOVEL P09_Rec Untested WXS Illumina HiSeq 179 131 184 0 ENST00000298281.4:c.1779T>C p.Ser593= p.S593= ENST00000298281 NM_015885.3 593 tcT/tcC 0 -PDE4DIP UCSF GRCh37 1 144886132 144886132 + synonymous_variant Silent SNP A A G NOVEL P09_Rec Untested WXS Illumina HiSeq 171 32 144 0 ENST00000369354.3:c.3102T>C p.Ile1034= p.I1034= ENST00000369354 1034 atT/atC 0 -PHF3 UCSF GRCh37 6 64419048 64419048 + missense_variant,splice_region_variant Missense_Mutation SNP A A G NOVEL P09_Rec Untested WXS Illumina HiSeq 91 36 82 0 ENST00000262043.3:c.3713A>G p.Asp1238Gly p.D1238G ENST00000262043 1238 gAc/gGc 0 -PPFIBP1 UCSF GRCh37 12 27825398 27825415 + inframe_deletion,splice_region_variant In_Frame_Del DEL AACTGTGTGATAAACTTT AACTGTGTGATAAACTTT - NOVEL P09_Rec Untested WXS Illumina HiSeq 9 0 ENST00000318304.8:c.1352_1369del p.Gln451_Leu456del p.Q451_L456del ENST00000318304 NM_177444.2 451 cAACTGTGTGATAAACTTTta/cta 0 -PSMD5 UCSF GRCh37 9 123595695 123595695 + synonymous_variant Silent SNP C C T NOVEL P09_Rec Untested WXS Illumina HiSeq 164 82 134 0 ENST00000210313.3:c.213G>A p.Leu71= p.L71= ENST00000210313 NM_005047.3 71 ttG/ttA 0 -SLC28A2 UCSF GRCh37 15 45561641 45561641 + missense_variant Missense_Mutation SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 111 25 96 0 ENST00000347644.3:c.1474G>A p.Glu492Lys p.E492K ENST00000347644 NM_004212.3 492 Gag/Aag 0 -SLC28A2 UCSF GRCh37 15 45561643 45561643 + missense_variant Missense_Mutation SNP G G T NOVEL P09_Rec Untested WXS Illumina HiSeq 114 26 97 0 ENST00000347644.3:c.1476G>T p.Glu492Asp p.E492D ENST00000347644 NM_004212.3 492 gaG/gaT 0 -SLC38A10 UCSF GRCh37 17 79268677 79268677 + synonymous_variant Silent SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 41 14 35 0 ENST00000374759.3:c.45C>T p.Ile15= p.I15= ENST00000374759 NM_001037984.1 15 atC/atT 0 -TAOK3 UCSF GRCh37 12 118588939 118588939 + missense_variant Missense_Mutation SNP G G T NOVEL P09_Rec Untested WXS Illumina HiSeq 102 36 82 0 ENST00000392533.3:c.2560C>A p.Gln854Lys p.Q854K ENST00000392533 NM_016281.3 854 Cag/Aag 0 -TAOK3 UCSF GRCh37 12 118588940 118588940 + synonymous_variant Silent SNP A A T NOVEL P09_Rec Untested WXS Illumina HiSeq 101 36 82 0 ENST00000392533.3:c.2559T>A p.Leu853= p.L853= ENST00000392533 NM_016281.3 853 ctT/ctA 0 -TEX11 UCSF GRCh37 X 70093131 70093131 + missense_variant Missense_Mutation SNP C C A NOVEL P09_Rec Untested WXS Illumina HiSeq 38 33 52 0 ENST00000344304.3:c.231G>T p.Trp77Cys p.W77C ENST00000344304 77 tgG/tgT 0 -TMED1 UCSF GRCh37 19 10945980 10945980 + missense_variant Missense_Mutation SNP T T C NOVEL P09_Rec Untested WXS Illumina HiSeq 72 20 54 0 ENST00000214869.2:c.233A>G p.Gln78Arg p.Q78R ENST00000214869 NM_006858.3 78 cAg/cGg 0 -TNF UCSF GRCh37 6 31544909 31544909 + synonymous_variant Silent SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 110 38 64 0 ENST00000449264.2:c.297G>A p.Glu99= p.E99= ENST00000449264 NM_000594.3 99 gaG/gaA 0 -TNF UCSF GRCh37 6 31545161 31545161 + synonymous_variant Silent SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 112 29 65 0 ENST00000449264.2:c.549G>A p.Glu183= p.E183= ENST00000449264 NM_000594.3 183 gaG/gaA 0 -TNNI1 UCSF GRCh37 1 201380601 201380601 + missense_variant Missense_Mutation SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 47 8 42 0 ENST00000336092.4:c.340C>T p.Arg114Cys p.R114C ENST00000336092 114 Cgt/Tgt 0 -TNNT3 UCSF GRCh37 11 1955222 1955222 + missense_variant Missense_Mutation SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 21 13 33 0 ENST00000397301.1:c.383G>A p.Arg128His p.R128H ENST00000397301 128 cGc/cAc 0 -TP53 UCSF GRCh37 17 7578479 7578479 + missense_variant Missense_Mutation SNP G G C NOVEL P09_Rec Untested WXS Illumina HiSeq 31 38 48 0 ENST00000269305.4:c.451C>G p.Pro151Ala p.P151A ENST00000269305 NM_001126112.2 151 Ccc/Gcc 0 -UNC13A UCSF GRCh37 19 17756853 17756853 + missense_variant Missense_Mutation SNP C C G NOVEL P09_Rec Untested WXS Illumina HiSeq 92 54 58 0 ENST00000519716.2:c.2112G>C p.Gln704His p.Q704H ENST00000519716 NM_001080421.2 704 caG/caC 0 -UNC93B1 UCSF GRCh37 11 67763353 67763353 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 35 7 22 1 ENST00000227471.2:c.1089C>T p.Gly363= p.G363= ENST00000227471 NM_030930.2 363 ggC/ggT 0 -USP28 UCSF GRCh37 11 113672332 113672335 + frameshift_variant Frame_Shift_Del DEL ATTA ATTA - NOVEL P09_Rec Untested WXS Illumina HiSeq 26 0 ENST00000003302.4:c.2928_2931del p.Ile976MetfsTer2 p.I976Mfs*2 ENST00000003302 NM_020886.2 976 atTAAT/at 0 -VPS35 UCSF GRCh37 16 46708258 46708258 + synonymous_variant Silent SNP T T C NOVEL P09_Rec Untested WXS Illumina HiSeq 88 40 78 0 ENST00000299138.7:c.1128A>G p.Thr376= p.T376= ENST00000299138 NM_018206.4 376 acA/acG 0 -ZNF292 UCSF GRCh37 6 87965102 87965103 + frameshift_variant Frame_Shift_Ins INS - - C NOVEL P09_Rec Untested WXS Illumina HiSeq 45 0 ENST00000369577.3:c.1757dup p.His587SerfsTer7 p.H587Sfs*7 ENST00000369577 NM_015021.1 585 -/C 0 -ABCD1 UCSF GRCh37 X 152991314 152991314 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Pri somatic WXS Sanger Illumina HiSeq 12 20 108 0 ENST00000218104.3:c.593C>T p.Thr198Met p.T198M ENST00000218104 NM_000033.3 198 aCg/aTg 0 -ADCK4 UCSF GRCh37 19 41208533 41208533 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 37 29 92 0 ENST00000324464.3:c.865C>T p.Arg289Cys p.R289C ENST00000324464 NM_024876.3 289 Cgt/Tgt 0 -ARHGEF9 UCSF GRCh37 X 62858032 62858032 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Pri Untested WXS Illumina HiSeq 11 12 49 0 ENST00000253401.6:c.1427A>G p.Asn476Ser p.N476S ENST00000253401 NM_015185.2 476 aAc/aGc 0 -ASPSCR1 UCSF GRCh37 17 79968702 79968702 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 13 9 55 1 ENST00000306739.4:c.1195G>A p.Asp399Asn p.D399N ENST00000306739 NM_024083.3 399 Gac/Aac 0 -ATRX UCSF GRCh37 X 76814225 76814225 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Pri somatic WXS Sanger Illumina HiSeq 52 42 168 0 ENST00000373344.5:c.6419A>G p.Asn2140Ser p.N2140S ENST00000373344 NM_000489.3 2140 aAt/aGt 0 -CCDC151 UCSF GRCh37 19 11537720 11537720 + synonymous_variant Silent SNP C C T NOVEL P10_Pri Untested WXS Illumina HiSeq 13 12 52 0 ENST00000356392.4:c.585G>A p.Ala195= p.A195= ENST00000356392 NM_145045.4 195 gcG/gcA 0 -DAGLA UCSF GRCh37 11 61505189 61505189 + synonymous_variant Silent SNP C C T NOVEL P10_Pri Untested WXS Illumina HiSeq 40 17 82 0 ENST00000257215.5:c.1545C>T p.Phe515= p.F515= ENST00000257215 NM_006133.2 515 ttC/ttT 0 -DSCAM UCSF GRCh37 21 41684176 41684176 + stop_gained Nonsense_Mutation SNP T T A NOVEL P10_Pri Untested WXS Illumina HiSeq 52 16 136 0 ENST00000400454.1:c.1894A>T p.Lys632Ter p.K632* ENST00000400454 NM_001271534.1 632 Aag/Tag 0 -FAM55A UCSF GRCh37 11 114392826 114392826 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Pri Untested WXS Illumina HiSeq 62 28 186 0 ENST00000424269.1:c.1508A>G p.Lys503Arg p.K503R ENST00000424269 503 aAg/aGg 0 -FAM75C2 UCSF GRCh37 9 90746733 90746733 + non_coding_transcript_exon_variant RNA SNP C C G NOVEL P10_Pri Untested WXS Illumina HiSeq 43 25 267 1 ENST00000428649.2:n.1248G>C *416* ENST00000428649 0 -FLG UCSF GRCh37 1 152280068 152280068 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Pri Untested WXS Illumina HiSeq 30 26 214 0 ENST00000368799.1:c.7294G>A p.Gly2432Arg p.G2432R ENST00000368799 NM_002016.1 2432 Ggg/Agg 0 -FRMPD4 UCSF GRCh37 X 12734380 12734380 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Pri Untested WXS Illumina HiSeq 44 36 188 1 ENST00000380682.1:c.1802A>G p.Tyr601Cys p.Y601C ENST00000380682 NM_014728.3 601 tAt/tGt 0 -GABRE UCSF GRCh37 X 151123325 151123325 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Pri Untested WXS Illumina HiSeq 24 13 57 0 ENST00000370328.3:c.1369T>C p.Phe457Leu p.F457L ENST00000370328 NM_004961.3 457 Ttc/Ctc 0 -GTPBP1 UCSF GRCh37 22 39123237 39123237 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 7 33 150 1 ENST00000216044.5:c.1421G>A p.Arg474Gln p.R474Q ENST00000216044 NM_004286.4 474 cGg/cAg 0 -HS3ST3A1 UCSF GRCh37 17 13400067 13400067 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Pri Untested WXS Illumina HiSeq 35 16 124 0 ENST00000284110.1:c.668G>A p.Arg223Gln p.R223Q ENST00000284110 NM_006042.1 223 cGg/cAg 0 -HS3ST3B1 UCSF GRCh37 17 14248413 14248413 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 2 14 46 0 ENST00000360954.2:c.623G>A p.Arg208Gln p.R208Q ENST00000360954 NM_006041.1 208 cGg/cAg 0 -HTRA1 UCSF GRCh37 10 124248504 124248504 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 31 33 132 0 ENST00000368984.3:c.559G>A p.Glu187Lys p.E187K ENST00000368984 NM_002775.4 187 Gaa/Aaa 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Pri somatic WXS Sanger Illumina HiSeq 56 46 125 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KCNJ12 UCSF GRCh37 17 21319232 21319232 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Pri Untested WXS Illumina HiSeq 61 10 115 0 ENST00000331718.5:c.578C>T p.Thr193Met p.T193M ENST00000331718 NM_001194958.2 193 aCg/aTg 0 -KRTAP4-1 UCSF GRCh37 17 39340795 39340795 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.020 P10_Pri Untested WXS Illumina HiSeq 34 6 97 1 ENST00000398472.1:c.312T>C p.Arg104= p.R104= ENST00000398472 104 cgT/cgC 0 -LCA5L UCSF GRCh37 21 40800200 40800200 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Pri Untested WXS Illumina HiSeq 67 8 182 0 ENST00000288350.3:c.220G>A p.Asp74Asn p.D74N ENST00000288350 74 Gat/Aat 0 -MYH1 UCSF GRCh37 17 10406468 10406468 + missense_variant Missense_Mutation SNP G G T NOVEL P10_Pri Untested WXS Illumina HiSeq 18 24 218 1 ENST00000226207.5:c.2789C>A p.Ala930Asp p.A930D ENST00000226207 NM_005963.3 930 gCt/gAt 0 -MYH14 UCSF GRCh37 19 50795615 50795615 + missense_variant Missense_Mutation SNP G G T NOVEL P10_Pri Untested WXS Illumina HiSeq 21 4 36 2 ENST00000376970.2:c.5201G>T p.Gly1734Val p.G1734V ENST00000376970 NM_024729.3 1734 gGc/gTc 0 -NBPF4 UCSF GRCh37 1 108769307 108769307 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.062,1000g2011may_all_0.2082,snp132_rs2582071 P10_Pri Untested WXS Illumina HiSeq 34 5 70 1 ENST00000415641.3:c.1869C>T p.Ser623= p.S623= ENST00000415641 NM_001143989.2 623 agC/agT 0 -NLGN4X UCSF GRCh37 X 5821576 5821576 + synonymous_variant Silent SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 26 23 150 0 ENST00000275857.6:c.1143C>T p.Asp381= p.D381= ENST00000275857 NM_020742.2 381 gaC/gaT 0 -OR4K15 UCSF GRCh37 14 20444624 20444624 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Pri Untested WXS Illumina HiSeq 36 26 172 0 ENST00000305051.5:c.947A>G p.Lys316Arg p.K316R ENST00000305051 NM_001005486.1 316 aAa/aGa 0 -PLXNA4 UCSF GRCh37 7 131831322 131831322 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 51 25 172 0 ENST00000321063.4:c.5002C>T p.Arg1668Trp p.R1668W ENST00000321063 NM_020911.1 1668 Cgg/Tgg 0 -PTK2 UCSF GRCh37 8 141829029 141829043 + inframe_deletion In_Frame_Del DEL GGATCTCAAAGAATT GGATCTCAAAGAATT - NOVEL P10_Pri Untested WXS Illumina HiSeq 109 0 ENST00000521059.1:c.725_739del p.Lys242_Leu247delinsMet p.K242_L247delinsM ENST00000521059 NM_005607.4 242 aAATTCTTTGAGATCCtg/atg 0 -S100PBP UCSF GRCh37 1 33292145 33292145 + missense_variant Missense_Mutation SNP G G T NOVEL P10_Pri Untested WXS Illumina HiSeq 62 38 175 0 ENST00000373475.5:c.445G>T p.Ala149Ser p.A149S ENST00000373475 NM_022753.3 149 Gca/Tca 0 -SORBS2 UCSF GRCh37 4 186544879 186544879 + synonymous_variant Silent SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 43 23 118 0 ENST00000284776.7:c.1692C>T p.Pro564= p.P564= ENST00000284776 NM_021069.4 564 ccC/ccT 0 -SSBP2 UCSF GRCh37 5 80733256 80733256 + missense_variant Missense_Mutation SNP A A C NOVEL P10_Pri Untested WXS Illumina HiSeq 70 38 164 0 ENST00000320672.4:c.950T>G p.Ile317Ser p.I317S ENST00000320672 NM_001256732.1 317 aTt/aGt 0 -TMEM214 UCSF GRCh37 2 27261943 27261943 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 23 7 90 0 ENST00000238788.9:c.1436G>A p.Arg479Gln p.R479Q ENST00000238788 NM_017727.4 479 cGg/cAg 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri somatic WXS Sanger Illumina HiSeq 3 24 83 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TRIM42 UCSF GRCh37 3 140407071 140407071 + missense_variant Missense_Mutation SNP T T G NOVEL P10_Pri Untested WXS Illumina HiSeq 38 18 156 0 ENST00000286349.3:c.1547T>G p.Ile516Ser p.I516S ENST00000286349 NM_152616.4 516 aTt/aGt 0 -ZDHHC18 UCSF GRCh37 1 27177632 27177632 + synonymous_variant Silent SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 18 18 122 0 ENST00000374142.4:c.846G>A p.Leu282= p.L282= ENST00000374142 NM_032283.2 282 ttG/ttA 0 -ZNF527 UCSF GRCh37 19 37880574 37880574 + synonymous_variant Silent SNP T T C NOVEL P10_Pri Untested WXS Illumina HiSeq 53 41 132 0 ENST00000436120.2:c.1623T>C p.Leu541= p.L541= ENST00000436120 NM_032453.1 541 ctT/ctC 0 -A2ML1 UCSF GRCh37 12 8975830 8975830 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 77 173 0 ENST00000299698.7:c.115G>A p.Val39Ile p.V39I ENST00000299698 NM_144670.4 39 Gtt/Att 0 -AAMP UCSF GRCh37 2 219131576 219131576 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 51 94 0 ENST00000248450.4:c.528C>T p.Asp176= p.D176= ENST00000248450 176 gaC/gaT 0 -AANAT UCSF GRCh37 17 74465899 74465899 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 8 14 0 ENST00000392492.3:c.471G>A p.Ala157= p.A157= ENST00000392492 NM_001088.2 157 gcG/gcA 0 -ABAT UCSF GRCh37 16 8866640 8866640 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 42 140 0 ENST00000268251.8:c.820G>A p.Glu274Lys p.E274K ENST00000268251 NM_020686.5 274 Gag/Aag 0 -ABCA1 UCSF GRCh37 9 107588071 107588071 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 189 72 168 0 ENST00000374736.3:c.2435G>A p.Ser812Asn p.S812N ENST00000374736 NM_005502.3 812 aGt/aAt 0 -ABCA13 UCSF GRCh37 7 48318903 48318903 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 77 98 0 ENST00000435803.1:c.8112C>T p.Gly2704= p.G2704= ENST00000435803 NM_152701.3 2704 ggC/ggT 0 -ABCA2 UCSF GRCh37 9 139910305 139910305 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 21 43 0 ENST00000341511.6:c.3336G>A p.Glu1112= p.E1112= ENST00000341511 NM_212533.2 1112 gaG/gaA 0 -ABCA5 UCSF GRCh37 17 67260942 67260942 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 38 124 0 ENST00000392676.3:c.3249G>A p.Leu1083= p.L1083= ENST00000392676 1083 ttG/ttA 0 -ABCA9 UCSF GRCh37 17 67031836 67031836 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 83 153 0 ENST00000340001.4:c.907G>A p.Val303Ile p.V303I ENST00000340001 NM_080283.3 303 Gtc/Atc 0 -ABCB1 UCSF GRCh37 7 87168620 87168620 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 35 87 0 ENST00000265724.3:c.2361G>A p.Arg787= p.R787= ENST00000265724 NM_000927.4 787 cgG/cgA 0 -ABCB4 UCSF GRCh37 7 87076349 87076349 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 37 87 0 ENST00000265723.4:c.1005+1G>A p.X335_splice ENST00000265723 NM_000443.3 0 -ABCC11 UCSF GRCh37 16 48220964 48220964 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 75 157 0 ENST00000356608.2:c.2971G>A p.Glu991Lys p.E991K ENST00000356608 991 Gag/Aag 0 -ABCC11 UCSF GRCh37 16 48264461 48264461 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 38 81 0 ENST00000356608.2:c.123C>T p.Gly41= p.G41= ENST00000356608 41 ggC/ggT 0 -ABCC2 UCSF GRCh37 10 101567257 101567257 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 59 139 0 ENST00000370449.4:c.1647C>T p.Val549= p.V549= ENST00000370449 NM_000392.3 549 gtC/gtT 0 -ABCC3 UCSF GRCh37 17 48765012 48765012 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 70 146 0 ENST00000285238.8:c.4396G>A p.Ala1466Thr p.A1466T ENST00000285238 NM_003786.3 1466 Gct/Act 0 -ABCD1 UCSF GRCh37 X 152991314 152991314 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 58 58 108 0 ENST00000218104.3:c.593C>T p.Thr198Met p.T198M ENST00000218104 NM_000033.3 198 aCg/aTg 0 -ABHD11 UCSF GRCh37 7 73152057 73152057 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 26 23 48 0 ENST00000222800.3:c.297G>A p.Thr99= p.T99= ENST00000222800 NM_148912.2 99 acG/acA 0 -ABHD12 UCSF GRCh37 20 25275646 25275646 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 58 153 0 ENST00000376542.3:c.1178C>T p.Ser393Phe p.S393F ENST00000376542 NM_015600.4 393 tCc/tTc 0 -ABHD14B UCSF GRCh37 3 52004156 52004156 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 54 94 0 ENST00000361143.5:c.256G>A p.Glu86Lys p.E86K ENST00000361143 86 Gag/Aag 0 -ABL1 UCSF GRCh37 9 133760004 133760004 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 72 28 47 0 ENST00000318560.5:c.2327C>T p.Thr776Ile p.T776I ENST00000318560 NM_005157.4 776 aCc/aTc 0 -ABL1 UCSF GRCh37 9 133750256 133750256 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 142 66 163 0 ENST00000318560.5:c.1087G>A p.Asp363Asn p.D363N ENST00000318560 NM_005157.4 363 Gat/Aat 0 -ABT1 UCSF GRCh37 6 26598177 26598177 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 44 75 0 ENST00000274849.1:c.277G>A p.Ala93Thr p.A93T ENST00000274849 NM_013375.3 93 Gct/Act 0 -ACAD11 UCSF GRCh37 3 132322080 132322080 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 66 173 0 ENST00000264990.6:c.1614G>A p.Trp538Ter p.W538* ENST00000264990 NM_032169.4 538 tgG/tgA 0 -ACAP1 UCSF GRCh37 17 7247260 7247260 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 22 24 1 ENST00000158762.3:c.654G>A p.Lys218= p.K218= ENST00000158762 NM_014716.3 218 aaG/aaA 0 -ACCN3 UCSF GRCh37 7 150746101 150746101 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 66 89 0 ENST00000349064.5:c.129G>A p.Gly43= p.G43= ENST00000349064 NM_004769.3 43 ggG/ggA 0 -ACCN5 UCSF GRCh37 4 156757966 156757966 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 74 157 0 ENST00000537611.2:c.1110C>T p.Asn370= p.N370= ENST00000537611 NM_017419.2 370 aaC/aaT 0 -ACCSL UCSF GRCh37 11 44077841 44077841 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 1 42 80 0 ENST00000378832.1:c.1292C>T p.Thr431Ile p.T431I ENST00000378832 NM_001031854.2 431 aCc/aTc 0 -ACHE UCSF GRCh37 7 100490847 100490847 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 34 55 0 ENST00000241069.5:c.1007G>A p.Gly336Glu p.G336E ENST00000241069 NM_000665.3 336 gGa/gAa 0 -ACOT11 UCSF GRCh37 1 55073742 55073742 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 31 55 0 ENST00000371316.3:c.1629+1G>A p.X543_splice ENST00000371316 NM_015547.3 0 -ACOT11 UCSF GRCh37 1 55065014 55065014 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 25 113 0 ENST00000371316.3:c.810C>T p.Phe270= p.F270= ENST00000371316 NM_015547.3 270 ttC/ttT 0 -ACOXL UCSF GRCh37 2 111542360 111542360 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 51 104 0 ENST00000389811.4:c.127C>T p.Leu43Phe p.L43F ENST00000389811 43 Ctc/Ttc 0 -ACPT UCSF GRCh37 19 51297182 51297182 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 74 177 0 ENST00000270593.1:c.816G>A p.Arg272= p.R272= ENST00000270593 NM_033068.2 272 cgG/cgA 0 -ACSL4 UCSF GRCh37 X 108924505 108924505 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 74 174 0 ENST00000340800.2:c.629G>A p.Ser210Asn p.S210N ENST00000340800 NM_022977.2 210 aGt/aAt 0 -ACSL6 UCSF GRCh37 5 131309079 131309079 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 50 100 0 ENST00000379240.1:c.1008C>T p.Cys336= p.C336= ENST00000379240 336 tgC/tgT 0 -ACSM1 UCSF GRCh37 16 20702440 20702440 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 77 190 0 ENST00000307493.4:c.71C>T p.Pro24Leu p.P24L ENST00000307493 NM_052956.2 24 cCt/cTt 0 -ACSM1 UCSF GRCh37 16 20681275 20681275 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 53 103 0 ENST00000307493.4:c.786C>T p.Val262= p.V262= ENST00000307493 NM_052956.2 262 gtC/gtT 0 -ACSM5 UCSF GRCh37 16 20430602 20430602 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 56 108 0 ENST00000331849.4:c.468C>T p.Tyr156= p.Y156= ENST00000331849 NM_017888.2 156 taC/taT 0 -ACTL7B UCSF GRCh37 9 111617245 111617245 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 55 98 1 ENST00000374667.3:c.966C>T p.Cys322= p.C322= ENST00000374667 NM_006686.3 322 tgC/tgT 0 -ACTR1B UCSF GRCh37 2 98275057 98275057 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 49 121 0 ENST00000289228.5:c.490G>A p.Val164Ile p.V164I ENST00000289228 NM_005735.3 164 Gtc/Atc 0 -ACTRT2 UCSF GRCh37 1 2938970 2938970 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 49 111 0 ENST00000378404.2:c.720G>A p.Arg240= p.R240= ENST00000378404 NM_080431.4 240 agG/agA 0 -ACVR1C UCSF GRCh37 2 158443801 158443801 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 105 253 0 ENST00000243349.8:c.202G>A p.Glu68Lys p.E68K ENST00000243349 NM_001111032.1 68 Gaa/Aaa 0 -ADAD2 UCSF GRCh37 16 84230287 84230287 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 67 106 0 ENST00000315906.5:c.1561G>A p.Ala521Thr p.A521T ENST00000315906 NM_001145400.1 521 Gcc/Acc 0 -ADAM11 UCSF GRCh37 17 42855391 42855391 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 65 147 0 ENST00000200557.6:c.2142C>T p.Pro714= p.P714= ENST00000200557 NM_002390.4 714 ccC/ccT 0 -ADAM19 UCSF GRCh37 5 156915317 156915317 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 77 153 0 ENST00000517905.1:c.2506C>T p.Pro836Ser p.P836S ENST00000517905 836 Cca/Tca 0 -ADAM19 UCSF GRCh37 5 156915418 156915418 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 43 104 0 ENST00000517905.1:c.2405C>T p.Ser802Phe p.S802F ENST00000517905 802 tCc/tTc 0 -ADAM23 UCSF GRCh37 2 207310049 207310049 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 61 138 0 ENST00000264377.3:c.233C>T p.Thr78Ile p.T78I ENST00000264377 NM_003812.3 78 aCt/aTt 0 -ADAMTS14 UCSF GRCh37 10 72498678 72498678 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 27 62 0 ENST00000373207.1:c.1680G>A p.Lys560= p.K560= ENST00000373207 NM_080722.3 560 aaG/aaA 0 -ADAMTS16 UCSF GRCh37 5 5319220 5319220 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 37 83 0 ENST00000274181.7:c.3644G>A p.Cys1215Tyr p.C1215Y ENST00000274181 NM_139056.2 1215 tGc/tAc 0 -ADAMTS2 UCSF GRCh37 5 178699957 178699957 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 27 86 0 ENST00000251582.7:c.643C>T p.Pro215Ser p.P215S ENST00000251582 NM_014244.4 215 Cca/Tca 0 -ADAMTS5 UCSF GRCh37 21 28327088 28327088 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 48 127 0 ENST00000284987.5:c.1207C>T p.His403Tyr p.H403Y ENST00000284987 NM_007038.3 403 Cac/Tac 0 -ADAMTS7 UCSF GRCh37 15 79051788 79051788 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 8 19 0 ENST00000388820.4:c.5036G>A p.Gly1679Asp p.G1679D ENST00000388820 NM_014272.3 1679 gGc/gAc 0 -ADAMTS8 UCSF GRCh37 11 130275496 130275496 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 52 98 0 ENST00000257359.6:c.2627C>T p.Pro876Leu p.P876L ENST00000257359 NM_007037.4 876 cCc/cTc 0 -ADCK4 UCSF GRCh37 19 41208533 41208533 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 53 92 0 ENST00000324464.3:c.865C>T p.Arg289Cys p.R289C ENST00000324464 NM_024876.3 289 Cgt/Tgt 0 -ADCK5 UCSF GRCh37 8 145616355 145616355 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 145 40 83 0 ENST00000308860.6:c.565G>A p.Asp189Asn p.D189N ENST00000308860 NM_174922.4 189 Gac/Aac 0 -ADCY4 UCSF GRCh37 14 24798336 24798336 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 37 78 0 ENST00000310677.4:c.1455G>A p.Trp485Ter p.W485* ENST00000310677 NM_001198568.1 485 tgG/tgA 0 -ADCY5 UCSF GRCh37 3 123049809 123049809 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 35 97 0 ENST00000462833.1:c.1573G>A p.Gly525Arg p.G525R ENST00000462833 NM_183357.2 525 Ggg/Agg 0 -ADCY8 UCSF GRCh37 8 131922112 131922112 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 285 73 128 0 ENST00000286355.5:c.1482G>A p.Arg494= p.R494= ENST00000286355 NM_001115.2 494 agG/agA 0 -ADIPOR2 UCSF GRCh37 12 1895171 1895171 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 83 177 0 ENST00000357103.4:c.1094G>A p.Gly365Asp p.G365D ENST00000357103 NM_024551.2 365 gGt/gAt 0 -ADNP UCSF GRCh37 20 49508225 49508225 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 134 118 181 0 ENST00000349014.3:c.3026G>A p.Ser1009Asn p.S1009N ENST00000349014 NM_001282532.1 1009 aGt/aAt 0 -ADNP2 UCSF GRCh37 18 77893588 77893588 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 67 177 0 ENST00000262198.4:c.292G>A p.Asp98Asn p.D98N ENST00000262198 NM_014913.3 98 Gat/Aat 0 -ADPRHL2 UCSF GRCh37 1 36557297 36557297 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 64 156 0 ENST00000373178.4:c.387C>T p.Asn129= p.N129= ENST00000373178 NM_017825.2 129 aaC/aaT 0 -AFAP1 UCSF GRCh37 4 7870389 7870389 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 19 55 0 ENST00000358461.2:c.185C>T p.Pro62Leu p.P62L ENST00000358461 NM_198595.2 62 cCt/cTt 0 -AFAP1 UCSF GRCh37 4 7774726 7774726 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 23 46 0 ENST00000358461.2:c.1822C>T p.Gln608Ter p.Q608* ENST00000358461 NM_198595.2 608 Cag/Tag 0 -AFG3L2 UCSF GRCh37 18 12363780 12363780 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 57 128 0 ENST00000269143.3:c.627+1G>A p.X209_splice ENST00000269143 NM_006796.2 0 -AFM UCSF GRCh37 4 74347532 74347533 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 0 ENST00000226355.3:c.47dup p.Leu16PhefsTer3 p.L16Ffs*3 ENST00000226355 NM_001133.2 14 ttt/tTtt 0 -AGAP1 UCSF GRCh37 2 236817473 236817473 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 81 178 0 ENST00000304032.8:c.1247C>T p.Ala416Val p.A416V ENST00000304032 NM_001037131.2 416 gCc/gTc 0 -AGAP2 UCSF GRCh37 12 58126730 58126730 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 108 211 0 ENST00000547588.1:c.1582G>A p.Gly528Arg p.G528R ENST00000547588 NM_001122772.2 528 Gga/Aga 0 -AGBL4 UCSF GRCh37 1 50163095 50163095 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 71 192 0 ENST00000371839.1:c.172G>A p.Val58Met p.V58M ENST00000371839 NM_032785.3 58 Gtg/Atg 0 -AGGF1 UCSF GRCh37 5 76355552 76355552 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 55 150 0 ENST00000312916.7:c.1828C>T p.Pro610Ser p.P610S ENST00000312916 NM_018046.4 610 Cct/Tct 0 -AGPAT9 UCSF GRCh37 4 84516040 84516040 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 120 112 221 0 ENST00000264409.4:c.781G>A p.Ala261Thr p.A261T ENST00000264409 NM_032717.4 261 Gct/Act 0 -AGPAT9 UCSF GRCh37 4 84519800 84519800 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 27 86 0 ENST00000264409.4:c.1129G>A p.Gly377Arg p.G377R ENST00000264409 NM_032717.4 377 Gga/Aga 0 -AGRN UCSF GRCh37 1 978819 978819 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 11 36 0 ENST00000379370.2:c.1585G>A p.Ala529Thr p.A529T ENST00000379370 NM_198576.3 529 Gcg/Acg 0 -AHI1 UCSF GRCh37 6 135787148 135787148 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 152 126 222 0 ENST00000265602.6:c.553G>A p.Asp185Asn p.D185N ENST00000265602 NM_001134831.1 185 Gat/Aat 0 -AHNAK UCSF GRCh37 11 62288699 62288699 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 122 125 263 0 ENST00000378024.4:c.13190C>T p.Pro4397Leu p.P4397L ENST00000378024 NM_001620.2 4397 cCc/cTc 0 -AHNAK UCSF GRCh37 11 62288419 62288419 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 119 93 180 1 ENST00000378024.4:c.13470G>A p.Gly4490= p.G4490= ENST00000378024 NM_001620.2 4490 ggG/ggA 0 -AHNAK UCSF GRCh37 11 62297032 62297032 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 116 224 0 ENST00000378024.4:c.4857G>A p.Lys1619= p.K1619= ENST00000378024 NM_001620.2 1619 aaG/aaA 0 -AHNAK UCSF GRCh37 11 62287342 62287342 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 79 190 0 ENST00000378024.4:c.14547C>T p.Ile4849= p.I4849= ENST00000378024 NM_001620.2 4849 atC/atT 0 -AHNAK2 UCSF GRCh37 14 105423788 105423788 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 17 35 0 ENST00000333244.5:c.172G>A p.Val58Ile p.V58I ENST00000333244 NM_138420.2 58 Gtc/Atc 0 -AHRR UCSF GRCh37 5 422934 422934 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 33 73 0 ENST00000505113.1:c.544C>T p.Pro182Ser p.P182S ENST00000505113 NM_001242412.1 182 Ccc/Tcc 0 -AICDA UCSF GRCh37 12 8758005 8758005 + missense_variant Missense_Mutation SNP A A T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 47 104 0 ENST00000229335.6:c.233T>A p.Val78Asp p.V78D ENST00000229335 NM_020661.2 78 gTc/gAc 0 -AIPL1 UCSF GRCh37 17 6329013 6329013 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 39 51 0 ENST00000381129.3:c.922C>T p.Leu308= p.L308= ENST00000381129 NM_014336.3 308 Ctg/Ttg 0 -AIRE UCSF GRCh37 21 45713770 45713770 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 9 23 0 ENST00000291582.5:c.1377C>T p.Phe459= p.F459= ENST00000291582 NM_000383.3 459 ttC/ttT 0 -AK8 UCSF GRCh37 9 135698602 135698602 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 160 79 156 0 ENST00000298545.3:c.879G>A p.Arg293= p.R293= ENST00000298545 NM_152572.2 293 agG/agA 0 -AKAP10 UCSF GRCh37 17 19823376 19823376 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 39 99 0 ENST00000225737.6:c.1807C>T p.Pro603Ser p.P603S ENST00000225737 NM_007202.3 603 Cct/Tct 0 -AKAP12 UCSF GRCh37 6 151673720 151673720 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 73 147 0 ENST00000253332.1:c.4194C>T p.Pro1398= p.P1398= ENST00000253332 1398 ccC/ccT 0 -AKAP12 UCSF GRCh37 6 151674666 151674666 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 90 166 0 ENST00000253332.1:c.5140C>T p.Leu1714= p.L1714= ENST00000253332 1714 Ctg/Ttg 0 -AKAP4 UCSF GRCh37 X 49957587 49957587 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 80 179 0 ENST00000358526.2:c.1777G>A p.Ala593Thr p.A593T ENST00000358526 NM_003886.2 593 Gcc/Acc 0 -AKAP8L UCSF GRCh37 19 15512078 15512078 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 74 119 0 ENST00000397410.5:c.699C>T p.Phe233= p.F233= ENST00000397410 NM_014371.2 233 ttC/ttT 0 -AKAP9 UCSF GRCh37 7 91622205 91622205 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 49 109 0 ENST00000356239.3:c.412G>A p.Glu138Lys p.E138K ENST00000356239 NM_147185.2 138 Gaa/Aaa 0 -AKNA UCSF GRCh37 9 117124707 117124707 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 16 43 0 ENST00000307564.4:c.1895C>T p.Pro632Leu p.P632L ENST00000307564 NM_030767.4 632 cCt/cTt 0 -AKR1B1 UCSF GRCh37 7 134136450 134136450 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 50 99 0 ENST00000285930.4:c.122G>A p.Arg41His p.R41H ENST00000285930 NM_001628.2 41 cGc/cAc 0 -AKR1C1 UCSF GRCh37 10 5011051 5011051 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 170 67 159 0 ENST00000380872.4:c.485C>T p.Ser162Phe p.S162F ENST00000380872 NM_001353.5 162 tCc/tTc 0 -ALAD UCSF GRCh37 9 116154398 116154398 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 16 41 0 ENST00000409155.3:c.164+1G>A p.X55_splice ENST00000409155 NM_000031.5 0 -ALDH3B2 UCSF GRCh37 11 67432886 67432886 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 131 28 159 0 ENST00000349015.3:c.576C>T p.Gly192= p.G192= ENST00000349015 NM_000695.3 192 ggC/ggT 0 -ALDH9A1 UCSF GRCh37 1 165636589 165636589 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 43 135 0 ENST00000354775.4:c.1306G>A p.Ala436Thr p.A436T ENST00000354775 NM_000696.3 436 Gcc/Acc 0 -ALG10 UCSF GRCh37 12 34179346 34179346 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 136 132 266 0 ENST00000266483.2:c.918C>T p.Leu306= p.L306= ENST00000266483 NM_032834.3 306 ctC/ctT 0 -ALKBH4 UCSF GRCh37 7 102098081 102098081 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 16 14 0 ENST00000292566.3:c.669G>A p.Arg223= p.R223= ENST00000292566 NM_017621.3 223 cgG/cgA 0 -ALMS1 UCSF GRCh37 2 73675671 73675671 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 103 194 0 ENST00000264448.6:c.2014G>A p.Glu672Lys p.E672K ENST00000264448 NM_015120.4 672 Gag/Aag 0 -ALOX15 UCSF GRCh37 17 4542415 4542415 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 74 151 0 ENST00000293761.3:c.350G>A p.Gly117Asp p.G117D ENST00000293761 NM_001140.3 117 gGc/gAc 0 -ALOX5AP UCSF GRCh37 13 31338144 31338144 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 88 196 0 ENST00000380490.3:c.387C>T p.Gly129= p.G129= ENST00000380490 NM_001629.3 129 ggC/ggT 0 -ALPK2 UCSF GRCh37 18 56202444 56202444 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 90 196 0 ENST00000361673.3:c.4975G>A p.Glu1659Lys p.E1659K ENST00000361673 NM_052947.3 1659 Gaa/Aaa 0 -ALPK2 UCSF GRCh37 18 56246635 56246635 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 92 188 0 ENST00000361673.3:c.1373C>T p.Ala458Val p.A458V ENST00000361673 NM_052947.3 458 gCt/gTt 0 -ALPK3 UCSF GRCh37 15 85383430 85383430 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 38 108 0 ENST00000258888.5:c.1526C>T p.Ala509Val p.A509V ENST00000258888 NM_020778.4 509 gCc/gTc 0 -ALPK3 UCSF GRCh37 15 85403012 85403012 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 34 42 0 ENST00000258888.5:c.4577G>A p.Gly1526Glu p.G1526E ENST00000258888 NM_020778.4 1526 gGg/gAg 0 -ALPP UCSF GRCh37 2 233245969 233245969 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 20 23 73 0 ENST00000392027.2:c.1201C>T p.Pro401Ser p.P401S ENST00000392027 NM_001632.3 401 Cct/Tct 0 -ALS2CL UCSF GRCh37 3 46724728 46724728 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 1 21 40 0 ENST00000318962.4:c.1001C>T p.Pro334Leu p.P334L ENST00000318962 NM_147129.3 334 cCc/cTc 0 -AMBN UCSF GRCh37 4 71467161 71467161 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 105 113 197 0 ENST00000322937.6:c.321C>T p.Pro107= p.P107= ENST00000322937 NM_016519.5 107 ccC/ccT 0 -AMBRA1 UCSF GRCh37 11 46563580 46563580 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 82 133 0 ENST00000458649.2:c.1987C>T p.Gln663Ter p.Q663* ENST00000458649 663 Cag/Tag 0 -AMMECR1L UCSF GRCh37 2 128628503 128628503 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 86 81 156 0 ENST00000272647.5:c.519-1G>A p.X173_splice ENST00000272647 NM_001199140.1 0 -AMOT UCSF GRCh37 X 112058905 112058905 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 23 26 0 ENST00000371959.3:c.1073C>T p.Pro358Leu p.P358L ENST00000371959 NM_001113490.1 358 cCt/cTt 0 -AMOT UCSF GRCh37 X 112065626 112065626 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 21 42 0 ENST00000371959.3:c.729C>T p.Pro243= p.P243= ENST00000371959 NM_001113490.1 243 ccC/ccT 0 -ANGEL1 UCSF GRCh37 14 77273075 77273075 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 105 179 0 ENST00000251089.2:c.1064G>A p.Gly355Asp p.G355D ENST00000251089 NM_015305.3 355 gGc/gAc 0 -ANGPTL6 UCSF GRCh37 19 10205520 10205520 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 39 48 82 0 ENST00000253109.4:c.677C>T p.Pro226Leu p.P226L ENST00000253109 NM_031917.2 226 cCc/cTc 0 -ANGPTL6 UCSF GRCh37 19 10204462 10204462 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 74 168 0 ENST00000253109.4:c.858G>A p.Trp286Ter p.W286* ENST00000253109 NM_031917.2 286 tgG/tgA 0 -ANGPTL6 UCSF GRCh37 19 10205450 10205450 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 82 76 150 1 ENST00000253109.4:c.747C>T p.Val249= p.V249= ENST00000253109 NM_031917.2 249 gtC/gtT 0 -ANK2 UCSF GRCh37 4 114257791 114257791 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 56 135 0 ENST00000357077.4:c.3650G>A p.Ser1217Asn p.S1217N ENST00000357077 NM_001148.4 1217 aGc/aAc 0 -ANK3 UCSF GRCh37 10 61834433 61834433 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 83 60 184 0 ENST00000280772.2:c.6206A>G p.Lys2069Arg p.K2069R ENST00000280772 NM_020987.3 2069 aAa/aGa 0 -ANKDD1A UCSF GRCh37 15 65214219 65214219 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 27 65 0 ENST00000319580.8:c.*7+1G>A p.X3_splice ENST00000319580 0 -ANKHD1 UCSF GRCh37 5 139864786 139864786 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 47 99 0 ENST00000360839.2:c.1951G>A p.Val651Ile p.V651I ENST00000360839 NM_017747.2 651 Gtt/Att 0 -ANKHD1 UCSF GRCh37 5 139887397 139887397 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 55 140 0 ENST00000360839.2:c.3579C>T p.Pro1193= p.P1193= ENST00000360839 NM_017747.2 1193 ccC/ccT 0 -ANKLE2 UCSF GRCh37 12 133311100 133311100 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 122 94 198 0 ENST00000357997.5:c.1762G>A p.Val588Ile p.V588I ENST00000357997 NM_015114.1 588 Gtt/Att 0 -ANKLE2 UCSF GRCh37 12 133313506 133313506 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 69 106 0 ENST00000357997.5:c.1566C>T p.Ala522= p.A522= ENST00000357997 NM_015114.1 522 gcC/gcT 0 -ANKMY2 UCSF GRCh37 7 16655440 16655440 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 37 137 0 ENST00000306999.2:c.460C>T p.Pro154Ser p.P154S ENST00000306999 NM_020319.2 154 Cca/Tca 0 -ANKRD13B UCSF GRCh37 17 27936181 27936181 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 29 43 0 ENST00000394859.3:c.643G>A p.Asp215Asn p.D215N ENST00000394859 NM_152345.4 215 Gac/Aac 0 -ANKRD17 UCSF GRCh37 4 73956561 73956561 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 123 117 241 0 ENST00000358602.4:c.6784C>T p.Pro2262Ser p.P2262S ENST00000358602 NM_032217.3 2262 Cct/Tct 0 -ANKRD17 UCSF GRCh37 4 73964177 73964177 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 49 140 0 ENST00000358602.4:c.4634C>T p.Ser1545Phe p.S1545F ENST00000358602 NM_032217.3 1545 tCt/tTt 0 -ANKRD2 UCSF GRCh37 10 99338294 99338294 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 11 16 0 ENST00000307518.5:c.469G>A p.Val157Met p.V157M ENST00000307518 157 Gtg/Atg 0 -ANKRD20A1 UCSF GRCh37 9 67951934 67951934 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 37 211 0 ENST00000377477.2:c.897G>A p.Gln299= p.Q299= ENST00000377477 NM_032250.3 299 caG/caA 0 -ANKRD56 UCSF GRCh37 4 77817460 77817460 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 52 113 0 ENST00000334306.2:c.1543C>T p.Leu515Phe p.L515F ENST00000334306 NM_001029870.1 515 Ctc/Ttc 0 -ANKS6 UCSF GRCh37 9 101552469 101552469 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 100 51 114 0 ENST00000353234.4:c.779C>T p.Thr260Ile p.T260I ENST00000353234 260 aCc/aTc 0 -ANO10 UCSF GRCh37 3 43618310 43618310 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 51 130 0 ENST00000292246.3:c.1036C>T p.Leu346= p.L346= ENST00000292246 NM_018075.3 346 Cta/Tta 0 -ANO2 UCSF GRCh37 12 5939622 5939622 + synonymous_variant Silent SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 55 47 124 0 ENST00000356134.5:c.810T>C p.Asp270= p.D270= ENST00000356134 270 gaT/gaC 0 -ANO3 UCSF GRCh37 11 26569093 26569093 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 88 200 0 ENST00000256737.3:c.1285G>A p.Val429Ile p.V429I ENST00000256737 NM_031418.2 429 Gta/Ata 0 -ANXA11 UCSF GRCh37 10 81929013 81929013 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 16 24 0 ENST00000372231.3:c.273G>A p.Gly91= p.G91= ENST00000372231 91 ggG/ggA 0 -AOX1 UCSF GRCh37 2 201515866 201515866 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 71 157 0 ENST00000374700.2:c.3017G>A p.Gly1006Glu p.G1006E ENST00000374700 NM_001159.3 1006 gGa/gAa 0 -AP2A1 UCSF GRCh37 19 50302723 50302723 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 36 75 0 ENST00000359032.5:c.1105C>T p.His369Tyr p.H369Y ENST00000359032 NM_014203.2 369 Cac/Tac 0 -AP3D1 UCSF GRCh37 19 2137026 2137026 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 8 18 0 ENST00000345016.5:c.338C>T p.Thr113Ile p.T113I ENST00000345016 NM_003938.6 113 aCc/aTc 0 -APBB1IP UCSF GRCh37 10 26849663 26849663 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 180 84 156 0 ENST00000376236.4:c.1259G>A p.Gly420Glu p.G420E ENST00000376236 NM_019043.3 420 gGg/gAg 0 -APC UCSF GRCh37 5 112177281 112177281 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 77 82 154 0 ENST00000257430.4:c.5990G>A p.Gly1997Glu p.G1997E ENST00000257430 NM_000038.5 1997 gGa/gAa 0 -APC2 UCSF GRCh37 19 1455233 1455233 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 11 21 0 ENST00000233607.2:c.499G>A p.Asp167Asn p.D167N ENST00000233607 NM_005883.2 167 Gac/Aac 0 -APC2 UCSF GRCh37 19 1466048 1466048 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 13 13 0 ENST00000233607.2:c.2748G>A p.Lys916= p.K916= ENST00000233607 NM_005883.2 916 aaG/aaA 0 -APCDD1L UCSF GRCh37 20 57036226 57036226 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 45 71 0 ENST00000371149.3:c.1126C>T p.Pro376Ser p.P376S ENST00000371149 NM_153360.1 376 Cca/Tca 0 -API5 UCSF GRCh37 11 43350277 43350277 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 61 123 0 ENST00000531273.1:c.961C>T p.Pro321Ser p.P321S ENST00000531273 321 Cct/Tct 0 -APLP1 UCSF GRCh37 19 36365772 36365772 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 28 35 0 ENST00000221891.4:c.1344+1G>A p.X448_splice ENST00000221891 NM_001024807.1 0 -APOA1 UCSF GRCh37 11 116707873 116707873 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 40 90 0 ENST00000236850.4:c.44G>A p.Gly15Glu p.G15E ENST00000236850 NM_000039.1 15 gGg/gAg 0 -APOB UCSF GRCh37 2 21227277 21227277 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 60 145 0 ENST00000233242.1:c.11951C>T p.Thr3984Ile p.T3984I ENST00000233242 NM_000384.2 3984 aCc/aTc 0 -APOB UCSF GRCh37 2 21232067 21232067 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 105 175 0 ENST00000233242.1:c.7673C>T p.Ala2558Val p.A2558V ENST00000233242 NM_000384.2 2558 gCt/gTt 0 -APOB UCSF GRCh37 2 21232078 21232078 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 69 146 0 ENST00000233242.1:c.7662G>A p.Trp2554Ter p.W2554* ENST00000233242 NM_000384.2 2554 tgG/tgA 0 -APP UCSF GRCh37 21 27284207 27284207 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 53 121 0 ENST00000346798.3:c.1755G>A p.Arg585= p.R585= ENST00000346798 NM_000484.3 585 agG/agA 0 -AQP1 UCSF GRCh37 7 30963178 30963178 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 18 20 49 0 ENST00000311813.4:c.744C>T p.Gly248= p.G248= ENST00000311813 NM_198098.2 248 ggC/ggT 0 -AQP5 UCSF GRCh37 12 50358930 50358930 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 31 50 0 ENST00000293599.6:c.768G>A p.Arg256= p.R256= ENST00000293599 NM_001651.3 256 cgG/cgA 0 -AR UCSF GRCh37 X 66765407 66765407 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 6 14 0 ENST00000374690.3:c.419C>T p.Ala140Val p.A140V ENST00000374690 NM_000044.3 140 gCc/gTc 0 -AR UCSF GRCh37 X 66766136 66766136 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 13 30 0 ENST00000374690.3:c.1148C>T p.Pro383Leu p.P383L ENST00000374690 NM_000044.3 383 cCc/cTc 0 -ARAP2 UCSF GRCh37 4 36115845 36115845 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 124 112 201 0 ENST00000303965.4:c.4103C>T p.Pro1368Leu p.P1368L ENST00000303965 NM_015230.3 1368 cCt/cTt 0 -ARAP2 UCSF GRCh37 4 36212084 36212084 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 68 138 1 ENST00000303965.4:c.1415C>T p.Pro472Leu p.P472L ENST00000303965 NM_015230.3 472 cCc/cTc 0 -ARAP2 UCSF GRCh37 4 36109269 36109269 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 59 179 0 ENST00000303965.4:c.4203G>A p.Arg1401= p.R1401= ENST00000303965 NM_015230.3 1401 cgG/cgA 0 -ARAP3 UCSF GRCh37 5 141033734 141033734 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 40 104 0 ENST00000239440.4:c.4418G>A p.Ser1473Asn p.S1473N ENST00000239440 NM_022481.5 1473 aGc/aAc 0 -ARC UCSF GRCh37 8 143695255 143695255 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 7 25 0 ENST00000356613.2:c.378G>A p.Trp126Ter p.W126* ENST00000356613 NM_015193.4 126 tgG/tgA 0 -ARCN1 UCSF GRCh37 11 118454053 118454053 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 55 125 0 ENST00000264028.4:c.427G>A p.Val143Met p.V143M ENST00000264028 NM_001655.4 143 Gtg/Atg 0 -ARFGEF2 UCSF GRCh37 20 47582530 47582530 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 63 139 0 ENST00000371917.4:c.1029C>T p.Asp343= p.D343= ENST00000371917 NM_006420.2 343 gaC/gaT 0 -ARGLU1 UCSF GRCh37 13 107196384 107196384 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 56 72 0 ENST00000400198.3:c.782C>T p.Ser261Phe p.S261F ENST00000400198 NM_018011.3 261 tCc/tTc 0 -ARHGAP15 UCSF GRCh37 2 144193197 144193197 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 20 21 59 0 ENST00000295095.6:c.502C>T p.Leu168Phe p.L168F ENST00000295095 NM_018460.3 168 Ctt/Ttt 0 -ARHGAP22 UCSF GRCh37 10 49687707 49687707 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 25 34 0 ENST00000249601.4:c.423C>T p.Arg141= p.R141= ENST00000249601 NM_021226.3 141 cgC/cgT 0 -ARHGAP23 UCSF GRCh37 17 36623249 36623249 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 13 15 17 0 ENST00000431231.2:c.1325C>T p.Pro442Leu p.P442L ENST00000431231 NM_001199417.1 442 cCc/cTc 0 -ARHGAP31 UCSF GRCh37 3 119120774 119120774 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 47 99 0 ENST00000264245.4:c.1175C>T p.Thr392Ile p.T392I ENST00000264245 NM_020754.2 392 aCc/aTc 0 -ARHGAP33 UCSF GRCh37 19 36278595 36278595 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 40 68 0 ENST00000314737.5:c.2645C>T p.Pro882Leu p.P882L ENST00000314737 NM_052948.3 882 cCc/cTc 0 -ARHGAP9 UCSF GRCh37 12 57868745 57868745 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 30 80 0 ENST00000393791.3:c.1564G>A p.Gly522Ser p.G522S ENST00000393791 NM_032496.2 522 Ggc/Agc 0 -ARHGEF1 UCSF GRCh37 19 42392174 42392174 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 30 68 0 ENST00000354532.3:c.21G>A p.Gly7= p.G7= ENST00000354532 NM_004706.3 7 ggG/ggA 0 -ARHGEF10 UCSF GRCh37 8 1893800 1893800 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 46 118 0 ENST00000398564.1:c.3451C>T p.Pro1151Ser p.P1151S ENST00000398564 1151 Cct/Tct 0 -ARHGEF12 UCSF GRCh37 11 120345319 120345319 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 64 149 0 ENST00000397843.2:c.3084G>A p.Trp1028Ter p.W1028* ENST00000397843 NM_015313.2 1028 tgG/tgA 0 -ARHGEF16 UCSF GRCh37 1 3396387 3396387 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 28 68 0 ENST00000378378.4:c.1900G>A p.Val634Met p.V634M ENST00000378378 NM_014448.3 634 Gtg/Atg 0 -ARHGEF17 UCSF GRCh37 11 73073499 73073499 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 12 29 0 ENST00000263674.3:c.4716G>A p.Arg1572= p.R1572= ENST00000263674 NM_014786.3 1572 agG/agA 0 -ARHGEF18 UCSF GRCh37 19 7518385 7518385 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 71 172 0 ENST00000359920.6:c.1324G>A p.Ala442Thr p.A442T ENST00000359920 NM_001130955.1 442 Gcc/Acc 0 -ARHGEF37 UCSF GRCh37 5 149001611 149001611 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 16 42 0 ENST00000333677.6:c.1321G>A p.Gly441Arg p.G441R ENST00000333677 NM_001001669.2 441 Gga/Aga 0 -ARHGEF40 UCSF GRCh37 14 21542423 21542423 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 44 97 0 ENST00000298694.4:c.534G>A p.Trp178Ter p.W178* ENST00000298694 NM_001278529.1 178 tgG/tgA 0 -ARHGEF9 UCSF GRCh37 X 62858032 62858032 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 19 17 49 0 ENST00000253401.6:c.1427A>G p.Asn476Ser p.N476S ENST00000253401 NM_015185.2 476 aAc/aGc 0 -ARID1A UCSF GRCh37 1 27087438 27087438 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 90 85 168 0 ENST00000324856.7:c.2012G>A p.Gly671Glu p.G671E ENST00000324856 NM_006015.4 671 gGa/gAa 0 -ARID1A UCSF GRCh37 1 27106776 27106776 + synonymous_variant Silent SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 108 97 196 0 ENST00000324856.7:c.6387C>T p.Asp2129= p.D2129= ENST00000324856 NM_006015.4 2129 gaC/gaT 0 -ARID1B UCSF GRCh37 6 157405897 157405897 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 64 163 0 ENST00000350026.5:c.2100C>T p.Ser700= p.S700= ENST00000350026 NM_017519.2 700 agC/agT 0 -ARID2 UCSF GRCh37 12 46125022 46125022 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 59 140 0 ENST00000334344.6:c.209G>A p.Gly70Glu p.G70E ENST00000334344 NM_152641.2 70 gGa/gAa 0 -ARID3C UCSF GRCh37 9 34621480 34621480 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 20 40 0 ENST00000378909.2:c.1214G>A p.Gly405Glu p.G405E ENST00000378909 NM_001017363.1 405 gGg/gAg 0 -ARID4B UCSF GRCh37 1 235383229 235383229 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 49 140 0 ENST00000264183.3:c.1462G>A p.Glu488Lys p.E488K ENST00000264183 NM_016374.5 488 Gaa/Aaa 0 -ARID5B UCSF GRCh37 10 63852245 63852245 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 74 134 0 ENST00000279873.7:c.3023C>T p.Ala1008Val p.A1008V ENST00000279873 NM_032199.2 1008 gCg/gTg 0 -ARL4A UCSF GRCh37 7 12728445 12728445 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 152 119 240 0 ENST00000356797.3:c.566G>A p.Arg189Lys p.R189K ENST00000356797 189 aGa/aAa 0 -ARL8B UCSF GRCh37 3 5216037 5216037 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 70 134 0 ENST00000256496.3:c.449C>T p.Ser150Phe p.S150F ENST00000256496 NM_018184.2 150 tCt/tTt 0 -ARMC2 UCSF GRCh37 6 109225435 109225435 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 128 105 220 0 ENST00000392644.4:c.850G>A p.Glu284Lys p.E284K ENST00000392644 NM_032131.4 284 Gaa/Aaa 0 -ARMC4 UCSF GRCh37 10 28272880 28272880 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 130 56 143 0 ENST00000305242.5:c.711C>T p.Ala237= p.A237= ENST00000305242 NM_018076.2 237 gcC/gcT 0 -ARMC5 UCSF GRCh37 16 31473836 31473836 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 37 52 0 ENST00000268314.4:c.968G>A p.Gly323Asp p.G323D ENST00000268314 NM_001105247.1 323 gGc/gAc 0 -ARMCX5 UCSF GRCh37 X 101857164 101857164 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 65 160 0 ENST00000246174.2:c.95G>A p.Gly32Asp p.G32D ENST00000246174 NM_001168480.1 32 gGt/gAt 0 -ARNT2 UCSF GRCh37 15 80869262 80869262 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 77 182 0 ENST00000303329.4:c.1569C>T p.Ser523= p.S523= ENST00000303329 NM_014862.3 523 tcC/tcT 0 -ARPM1 UCSF GRCh37 3 169485867 169485867 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 54 129 0 ENST00000330368.2:c.472G>A p.Val158Ile p.V158I ENST00000330368 NM_032487.4 158 Gtt/Att 0 -ARRDC1 UCSF GRCh37 9 140508117 140508117 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 129 55 117 0 ENST00000371421.4:c.331G>A p.Val111Met p.V111M ENST00000371421 NM_152285.2 111 Gtg/Atg 0 -ARSA UCSF GRCh37 22 51065061 51065061 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 39 76 0 ENST00000216124.5:c.812G>A p.Gly271Glu p.G271E ENST00000216124 NM_000487.5 271 gGg/gAg 0 -ARSF UCSF GRCh37 X 3030361 3030361 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 84 218 0 ENST00000359361.2:c.1537C>T p.Pro513Ser p.P513S ENST00000359361 NM_004042.4 513 Ccc/Tcc 0 -ARSJ UCSF GRCh37 4 114824812 114824812 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 72 159 1 ENST00000315366.7:c.418C>T p.Leu140Phe p.L140F ENST00000315366 NM_024590.3 140 Ctt/Ttt 0 -ART3 UCSF GRCh37 4 77003181 77003181 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 75 180 0 ENST00000355810.4:c.274G>A p.Asp92Asn p.D92N ENST00000355810 NM_001130016.2 92 Gat/Aat 0 -ART4 UCSF GRCh37 12 14982321 14982321 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 44 120 1 ENST00000228936.4:c.929C>T p.Ser310Phe p.S310F ENST00000228936 NM_021071.2 310 tCc/tTc 0 -ASB1 UCSF GRCh37 2 239344428 239344428 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 38 59 0 ENST00000264607.4:c.268C>T p.His90Tyr p.H90Y ENST00000264607 NM_001040445.1 90 Cat/Tat 0 -ASF1B UCSF GRCh37 19 14231375 14231375 + missense_variant Missense_Mutation SNP A A T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 18 31 0 ENST00000263382.3:c.505T>A p.Ser169Thr p.S169T ENST00000263382 NM_018154.2 169 Tcc/Acc 0 -ASH1L UCSF GRCh37 1 155451034 155451034 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 61 167 0 ENST00000368346.3:c.1627G>A p.Ala543Thr p.A543T ENST00000368346 543 Gct/Act 0 -ASH1L UCSF GRCh37 1 155449132 155449132 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 75 159 0 ENST00000368346.3:c.3529C>T p.Leu1177Phe p.L1177F ENST00000368346 1177 Ctc/Ttc 0 -ASL UCSF GRCh37 7 65551635 65551635 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 16 42 0 ENST00000304874.9:c.510C>T p.Ser170= p.S170= ENST00000304874 NM_000048.3 170 agC/agT 0 -ASPSCR1 UCSF GRCh37 17 79968702 79968702 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 25 55 1 ENST00000306739.4:c.1195G>A p.Asp399Asn p.D399N ENST00000306739 NM_024083.3 399 Gac/Aac 0 -ASXL1 UCSF GRCh37 20 31022675 31022675 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 55 83 0 ENST00000375687.4:c.2160C>T p.Asp720= p.D720= ENST00000375687 NM_015338.5 720 gaC/gaT 0 -ASXL1 UCSF GRCh37 20 31023287 31023287 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 73 139 0 ENST00000375687.4:c.2772C>T p.Pro924= p.P924= ENST00000375687 NM_015338.5 924 ccC/ccT 0 -ATAD2 UCSF GRCh37 8 124384893 124384893 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P10_Rec Untested WXS Illumina HiSeq 46 0 ENST00000287394.5:c.354delA p.Glu119LysfsTer8 p.E119Kfs*8 ENST00000287394 NM_014109.3 118 aaA/aa 0 -ATAD2B UCSF GRCh37 2 24046250 24046250 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 138 95 188 0 ENST00000238789.5:c.2009C>T p.Ser670Phe p.S670F ENST00000238789 NM_001242338.1 670 tCt/tTt 0 -ATAD3C UCSF GRCh37 1 1394579 1394579 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 58 102 0 ENST00000378785.2:c.780C>T p.Ala260= p.A260= ENST00000378785 NM_001039211.2 260 gcC/gcT 0 -ATAD5 UCSF GRCh37 17 29196607 29196607 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 74 169 0 ENST00000321990.4:c.3550G>A p.Gly1184Ser p.G1184S ENST00000321990 NM_024857.3 1184 Ggt/Agt 0 -ATG13 UCSF GRCh37 11 46671819 46671819 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 112 202 0 ENST00000359513.4:c.410C>T p.Ala137Val p.A137V ENST00000359513 137 gCc/gTc 0 -ATG2A UCSF GRCh37 11 64674276 64674276 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 29 44 0 ENST00000377264.3:c.2844G>A p.Gly948= p.G948= ENST00000377264 NM_015104.2 948 ggG/ggA 0 -ATG2B UCSF GRCh37 14 96800741 96800741 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 34 89 0 ENST00000359933.4:c.1021+1G>A p.X341_splice ENST00000359933 NM_018036.5 0 -ATG4A UCSF GRCh37 X 107380354 107380354 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 62 213 0 ENST00000372232.3:c.501G>A p.Leu167= p.L167= ENST00000372232 NM_052936.3 167 ttG/ttA 0 -ATG4C UCSF GRCh37 1 63307111 63307111 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 40 122 0 ENST00000317868.4:c.1102C>T p.Pro368Ser p.P368S ENST00000317868 NM_032852.3 368 Cct/Tct 0 -ATG7 UCSF GRCh37 3 11348535 11348535 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 101 90 163 0 ENST00000354449.3:c.333+1G>A p.X111_splice ENST00000354449 NM_006395.2 0 -ATL2 UCSF GRCh37 2 38546043 38546043 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 87 155 0 ENST00000378954.4:c.482G>A p.Arg161Lys p.R161K ENST00000378954 NM_001135673.1 161 aGa/aAa 0 -ATL2 UCSF GRCh37 2 38525577 38525577 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 139 126 226 0 ENST00000378954.4:c.1341G>A p.Gln447= p.Q447= ENST00000378954 NM_001135673.1 447 caG/caA 0 -ATP11B UCSF GRCh37 3 182575747 182575747 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 92 173 0 ENST00000323116.5:c.933G>A p.Trp311Ter p.W311* ENST00000323116 NM_014616.2 311 tgG/tgA 0 -ATP13A3 UCSF GRCh37 3 194168634 194168634 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 112 178 0 ENST00000256031.4:c.1255G>A p.Ala419Thr p.A419T ENST00000256031 NM_024524.3 419 Gca/Aca 0 -ATP1A4 UCSF GRCh37 1 160128843 160128843 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 73 135 0 ENST00000368081.4:c.577G>A p.Val193Met p.V193M ENST00000368081 NM_144699.3 193 Gtg/Atg 0 -ATP2A2 UCSF GRCh37 12 110784078 110784078 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 63 179 0 ENST00000539276.2:c.2932C>T p.Leu978Phe p.L978F ENST00000539276 978 Ctc/Ttc 0 -ATP2A2 UCSF GRCh37 12 110778552 110778552 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 72 110 0 ENST00000539276.2:c.1850G>A p.Gly617Asp p.G617D ENST00000539276 617 gGc/gAc 0 -ATP2B1 UCSF GRCh37 12 89997948 89997948 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 60 99 0 ENST00000428670.3:c.2618G>A p.Gly873Asp p.G873D ENST00000428670 873 gGc/gAc 0 -ATP2B3 UCSF GRCh37 X 152807193 152807193 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 47 90 0 ENST00000263519.4:c.473C>T p.Ala158Val p.A158V ENST00000263519 NM_001001344.2 158 gCt/gTt 0 -ATP2B4 UCSF GRCh37 1 203690419 203690419 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 60 128 0 ENST00000357681.5:c.2693C>T p.Ser898Phe p.S898F ENST00000357681 NM_001684.4 898 tCt/tTt 0 -ATP2C2 UCSF GRCh37 16 84482283 84482283 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 62 102 0 ENST00000262429.4:c.1648C>T p.Leu550Phe p.L550F ENST00000262429 NM_014861.2 550 Ctc/Ttc 0 -ATP2C2 UCSF GRCh37 16 84442047 84442047 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 31 80 0 ENST00000262429.4:c.364G>A p.Ala122Thr p.A122T ENST00000262429 NM_014861.2 122 Gcc/Acc 0 -ATP6AP2 UCSF GRCh37 X 40456585 40456585 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 58 144 0 ENST00000378438.4:c.385C>T p.Pro129Ser p.P129S ENST00000378438 NM_005765.2 129 Ccc/Tcc 0 -ATP6V0D1 UCSF GRCh37 16 67472557 67472557 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 88 178 0 ENST00000290949.3:c.930C>T p.Phe310= p.F310= ENST00000290949 NM_004691.4 310 ttC/ttT 0 -ATP6V0D2 UCSF GRCh37 8 87126101 87126101 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 156 54 110 0 ENST00000285393.3:c.294C>T p.Thr98= p.T98= ENST00000285393 NM_152565.1 98 acC/acT 0 -ATP6V1A UCSF GRCh37 3 113503577 113503577 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 63 117 0 ENST00000273398.3:c.461G>A p.Gly154Glu p.G154E ENST00000273398 NM_001690.3 154 gGa/gAa 0 -ATP6V1B1 UCSF GRCh37 2 71192158 71192158 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 37 76 0 ENST00000234396.4:c.1449G>A p.Lys483= p.K483= ENST00000234396 NM_001692.3 483 aaG/aaA 0 -ATP6V1G1 UCSF GRCh37 9 117350193 117350193 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 8 11 0 ENST00000374050.3:c.75C>T p.Ala25= p.A25= ENST00000374050 NM_004888.3 25 gcC/gcT 0 -ATP6V1G2 UCSF GRCh37 6 31513939 31513939 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 54 119 0 ENST00000303892.5:c.130G>A p.Val44Met p.V44M ENST00000303892 NM_138282.2 44 Gtg/Atg 0 -ATP7B UCSF GRCh37 13 52542627 52542627 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 78 136 0 ENST00000242839.4:c.1660G>A p.Ala554Thr p.A554T ENST00000242839 NM_000053.3 554 Gca/Aca 0 -ATP7B UCSF GRCh37 13 52520511 52520511 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 4 16 40 0 ENST00000242839.4:c.2969C>T p.Ala990Val p.A990V ENST00000242839 NM_000053.3 990 gCc/gTc 0 -ATP7B UCSF GRCh37 13 52548653 52548653 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 105 211 0 ENST00000242839.4:c.703C>T p.Pro235Ser p.P235S ENST00000242839 NM_000053.3 235 Cct/Tct 0 -ATP8A1 UCSF GRCh37 4 42487635 42487635 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 70 195 0 ENST00000381668.5:c.2202C>T p.Leu734= p.L734= ENST00000381668 NM_006095.2 734 ctC/ctT 0 -ATP8B4 UCSF GRCh37 15 50189676 50189676 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 128 220 0 ENST00000284509.6:c.2510G>A p.Gly837Glu p.G837E ENST00000284509 NM_024837.3 837 gGa/gAa 0 -ATP8B4 UCSF GRCh37 15 50273457 50273457 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 40 112 0 ENST00000284509.6:c.783G>A p.Lys261= p.K261= ENST00000284509 NM_024837.3 261 aaG/aaA 0 -ATP9A UCSF GRCh37 20 50245563 50245563 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 85 190 0 ENST00000338821.5:c.1717G>A p.Val573Ile p.V573I ENST00000338821 NM_006045.1 573 Gtc/Atc 0 -ATP9B UCSF GRCh37 18 77097371 77097371 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 34 92 0 ENST00000426216.2:c.2205G>A p.Leu735= p.L735= ENST00000426216 NM_198531.3 735 ctG/ctA 0 -ATPBD4 UCSF GRCh37 15 35814403 35814403 + intron_variant Intron SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 49 101 0 ENST00000256538.4:c.312+16072G>A *104* ENST00000256538 NM_080650.3 0 -ATR UCSF GRCh37 3 142279142 142279142 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 115 71 175 0 ENST00000350721.4:c.1504C>T p.Leu502= p.L502= ENST00000350721 NM_001184.3 502 Ctg/Ttg 0 -ATRN UCSF GRCh37 20 3553565 3553565 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 59 161 0 ENST00000262919.5:c.2059G>A p.Glu687Lys p.E687K ENST00000262919 NM_139321.2 687 Gaa/Aaa 0 -ATRX UCSF GRCh37 X 76814225 76814225 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 75 68 168 0 ENST00000373344.5:c.6419A>G p.Asn2140Ser p.N2140S ENST00000373344 NM_000489.3 2140 aAt/aGt 0 -ATXN3L UCSF GRCh37 X 13337642 13337642 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 107 228 0 ENST00000380622.2:c.412G>A p.Ala138Thr p.A138T ENST00000380622 NM_001135995.1 138 Gcg/Acg 0 -AUTS2 UCSF GRCh37 7 70254999 70254999 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 27 35 0 ENST00000342771.4:c.2797G>A p.Ala933Thr p.A933T ENST00000342771 NM_015570.2 933 Gcc/Acc 0 -AVL9 UCSF GRCh37 7 32598829 32598829 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 55 126 0 ENST00000318709.4:c.968C>T p.Ser323Phe p.S323F ENST00000318709 NM_015060.1 323 tCt/tTt 0 -AVL9 UCSF GRCh37 7 32598950 32598950 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 56 118 0 ENST00000318709.4:c.1089C>T p.Val363= p.V363= ENST00000318709 NM_015060.1 363 gtC/gtT 0 -AVPR1B UCSF GRCh37 1 206230814 206230814 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 20 47 0 ENST00000367126.4:c.947C>T p.Thr316Ile p.T316I ENST00000367126 NM_000707.3 316 aCc/aTc 0 -AXIN1 UCSF GRCh37 16 347811 347811 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 10 25 0 ENST00000262320.3:c.1695C>T p.Gly565= p.G565= ENST00000262320 NM_003502.3 565 ggC/ggT 0 -AXL UCSF GRCh37 19 41759510 41759510 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 20 52 0 ENST00000301178.4:c.1933C>T p.Pro645Ser p.P645S ENST00000301178 NM_021913.4 645 Ccc/Tcc 0 -B4GALNT4 UCSF GRCh37 11 375904 375904 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 1 17 27 0 ENST00000329962.6:c.1043C>T p.Pro348Leu p.P348L ENST00000329962 NM_178537.4 348 cCc/cTc 0 -B4GALT2 UCSF GRCh37 1 44447467 44447467 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 43 85 0 ENST00000356836.6:c.420C>T p.Thr140= p.T140= ENST00000356836 NM_001005417.2 140 acC/acT 0 -BAG2 UCSF GRCh37 6 57048760 57048760 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 80 183 0 ENST00000370693.5:c.408G>A p.Met136Ile p.M136I ENST00000370693 NM_004282.3 136 atG/atA 0 -BAG2 UCSF GRCh37 6 57048888 57048888 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 63 152 0 ENST00000370693.5:c.536G>A p.Arg179Lys p.R179K ENST00000370693 NM_004282.3 179 aGa/aAa 0 -BAHD1 UCSF GRCh37 15 40758176 40758176 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 80 131 0 ENST00000416165.1:c.2190C>T p.Leu730= p.L730= ENST00000416165 NM_014952.3 730 ctC/ctT 0 -BAI1 UCSF GRCh37 8 143545905 143545905 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 8 17 0 ENST00000323289.5:c.346G>A p.Gly116Ser p.G116S ENST00000323289 NM_001702.2 116 Ggc/Agc 0 -BAIAP2L1 UCSF GRCh37 7 97935766 97935766 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 52 121 0 ENST00000005260.8:c.1226C>T p.Thr409Ile p.T409I ENST00000005260 NM_018842.4 409 aCc/aTc 0 -BAZ2B UCSF GRCh37 2 160287578 160287578 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 80 157 0 ENST00000392783.2:c.1990G>A p.Glu664Lys p.E664K ENST00000392783 NM_013450.2 664 Gaa/Aaa 0 -BBS1 UCSF GRCh37 11 66283022 66283022 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 54 134 0 ENST00000318312.7:c.444C>T p.Asp148= p.D148= ENST00000318312 NM_024649.4 148 gaC/gaT 0 -BBS12 UCSF GRCh37 4 123663752 123663752 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 82 214 0 ENST00000314218.3:c.705G>A p.Arg235= p.R235= ENST00000314218 NM_152618.2 235 agG/agA 0 -BBS4 UCSF GRCh37 15 73009191 73009191 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 16 46 0 ENST00000268057.4:c.405G>A p.Trp135Ter p.W135* ENST00000268057 NM_033028.4 135 tgG/tgA 0 -BCAS1 UCSF GRCh37 20 52645014 52645014 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 116 104 205 0 ENST00000395961.3:c.640G>A p.Glu214Lys p.E214K ENST00000395961 NM_003657.2 214 Gaa/Aaa 0 -BCL11A UCSF GRCh37 2 60679739 60679739 + downstream_gene_variant 3'Flank SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 68 126 0 ENST00000335712 NM_022893.3 0 -BCL11A UCSF GRCh37 2 60773220 60773220 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 104 84 188 0 ENST00000335712.6:c.271G>A p.Glu91Lys p.E91K ENST00000335712 NM_022893.3 91 Gag/Aag 0 -BCL11B UCSF GRCh37 14 99697883 99697883 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 15 11 0 ENST00000357195.3:c.439C>T p.Pro147Ser p.P147S ENST00000357195 NM_138576.2 147 Cct/Tct 0 -BCL2L11 UCSF GRCh37 2 111907635 111907635 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 31 72 0 ENST00000393256.3:c.409G>A p.Ala137Thr p.A137T ENST00000393256 NM_006538.4 137 Gct/Act 0 -BCL3 UCSF GRCh37 19 45260369 45260369 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 12 15 0 ENST00000164227.5:c.615C>T p.Gly205= p.G205= ENST00000164227 NM_005178.4 205 ggC/ggT 0 -BCOR UCSF GRCh37 X 39932533 39932533 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 53 81 0 ENST00000378444.4:c.2066G>A p.Gly689Asp p.G689D ENST00000378444 NM_001123385.1 689 gGc/gAc 0 -BCORL1 UCSF GRCh37 X 129171444 129171444 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 57 128 0 ENST00000218147.7:c.4408G>A p.Asp1470Asn p.D1470N ENST00000218147 1470 Gac/Aac 0 -BEAN1 UCSF GRCh37 16 66514512 66514512 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 19 24 0 ENST00000536005.2:c.464G>A p.Gly155Glu p.G155E ENST00000536005 NM_001178020.2 155 gGg/gAg 0 -BEST1 UCSF GRCh37 11 61724400 61724400 + missense_variant Missense_Mutation SNP C C T snp132_rs62639357 P10_Rec Untested WXS Illumina HiSeq 118 86 163 0 ENST00000378043.4:c.566C>T p.Ala189Val p.A189V ENST00000378043 NM_004183.3 189 gCc/gTc 0 -BEST1 UCSF GRCh37 11 61730351 61730351 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 55 140 0 ENST00000378043.4:c.1725G>A p.Trp575Ter p.W575* ENST00000378043 NM_004183.3 575 tgG/tgA 0 -BIN2 UCSF GRCh37 12 51696470 51696470 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 75 167 0 ENST00000267012.4:c.312G>A p.Trp104Ter p.W104* ENST00000267012 NM_016293.2 104 tgG/tgA 0 -BIN3 UCSF GRCh37 8 22479058 22479058 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 35 105 0 ENST00000276416.6:c.639C>T p.His213= p.H213= ENST00000276416 NM_018688.4 213 caC/caT 0 -BIRC6 UCSF GRCh37 2 32824908 32824908 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 85 209 0 ENST00000421745.2:c.13933C>T p.Leu4645= p.L4645= ENST00000421745 NM_016252.3 4645 Cta/Tta 0 -BIRC7 UCSF GRCh37 20 61870934 61870934 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 25 24 0 ENST00000217169.3:c.874C>T p.Arg292Cys p.R292C ENST00000217169 NM_139317.2 292 Cgc/Tgc 0 -BIRC7 UCSF GRCh37 20 61869332 61869332 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 17 38 0 ENST00000217169.3:c.427G>A p.Glu143Lys p.E143K ENST00000217169 NM_139317.2 143 Gag/Aag 0 -BIVM UCSF GRCh37 13 103474475 103474475 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 45 136 0 ENST00000257336.1:c.867G>A p.Lys289= p.K289= ENST00000257336 NM_017693.3 289 aaG/aaA 0 -BLNK UCSF GRCh37 10 98002540 98002540 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 46 125 0 ENST00000224337.5:c.114G>A p.Lys38= p.K38= ENST00000224337 NM_013314.3 38 aaG/aaA 0 -BLVRA UCSF GRCh37 7 43840116 43840116 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 38 80 0 ENST00000265523.4:c.405C>T p.Phe135= p.F135= ENST00000265523 NM_000712.3 135 ttC/ttT 0 -BMP1 UCSF GRCh37 8 22058659 22058659 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 45 99 0 ENST00000306385.5:c.2108-657G>A *703* ENST00000306385 NM_006129.4 0 -BMP15 UCSF GRCh37 X 50659331 50659331 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 69 165 0 ENST00000252677.3:c.903C>T p.Arg301= p.R301= ENST00000252677 NM_005448.2 301 cgC/cgT 0 -BMPER UCSF GRCh37 7 33976972 33976972 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 41 105 0 ENST00000297161.2:c.291G>A p.Gln97= p.Q97= ENST00000297161 NM_133468.4 97 caG/caA 0 -BNC1 UCSF GRCh37 15 83932486 83932486 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 56 143 0 ENST00000345382.2:c.1517G>A p.Gly506Glu p.G506E ENST00000345382 NM_001717.3 506 gGg/gAg 0 -BNC1 UCSF GRCh37 15 83932013 83932013 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 79 151 0 ENST00000345382.2:c.1990C>T p.Pro664Ser p.P664S ENST00000345382 NM_001717.3 664 Ccc/Tcc 0 -BNIP2 UCSF GRCh37 15 59970244 59970244 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 105 221 0 ENST00000607373.1:c.338G>A p.Gly113Asp p.G113D ENST00000607373 NM_004330.2 113 gGc/gAc 0 -BOD1L UCSF GRCh37 4 13604919 13604919 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 134 126 202 0 ENST00000040738.5:c.3605C>T p.Thr1202Ile p.T1202I ENST00000040738 NM_148894.2 1202 aCc/aTc 0 -BOP1 UCSF GRCh37 8 145512976 145512976 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 105 24 61 0 ENST00000307404.5:c.109C>T p.Leu37Phe p.L37F ENST00000307404 NM_015201.3 37 Ctc/Ttc 0 -BPGM UCSF GRCh37 7 134346447 134346447 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 68 126 0 ENST00000344924.3:c.188C>T p.Ser63Phe p.S63F ENST00000344924 NM_001724.4 63 tCc/tTc 0 -BRAT1 UCSF GRCh37 7 2587021 2587021 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 40 66 0 ENST00000340611.4:c.219C>T p.Leu73= p.L73= ENST00000340611 NM_152743.3 73 ctC/ctT 0 -BRCA1 UCSF GRCh37 17 41201137 41201137 + splice_donor_variant Splice_Site SNP C C T snp132_rs80358028 P10_Rec somatic WXS Sanger Illumina HiSeq 50 39 83 0 ENST00000357654.3:c.5406+1G>A p.X1802_splice ENST00000357654 NM_007294.3 0 -BRD2 UCSF GRCh37 6 32945348 32945348 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 87 187 0 ENST00000374825.4:c.1329+1G>A p.X443_splice ENST00000374825 NM_005104.3 0 -BRD2 UCSF GRCh37 6 32947668 32947668 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 39 126 0 ENST00000374825.4:c.1905G>A p.Glu635= p.E635= ENST00000374825 NM_005104.3 635 gaG/gaA 0 -BRD3 UCSF GRCh37 9 136917491 136917491 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 119 50 117 0 ENST00000303407.7:c.288G>A p.Trp96Ter p.W96* ENST00000303407 NM_007371.3 96 tgG/tgA 0 -BRD8 UCSF GRCh37 5 137513329 137513329 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 83 133 0 ENST00000254900.5:c.47C>T p.Thr16Ile p.T16I ENST00000254900 NM_139199.1 16 aCa/aTa 0 -BRF2 UCSF GRCh37 8 37707147 37707147 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 33 72 0 ENST00000220659.6:c.154+1G>A p.X52_splice ENST00000220659 NM_018310.3 0 -BRPF1 UCSF GRCh37 3 9782593 9782593 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 38 103 0 ENST00000457855.1:c.1690C>T p.Leu564= p.L564= ENST00000457855 564 Ctg/Ttg 0 -BRPF3 UCSF GRCh37 6 36169066 36169066 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 32 90 0 ENST00000357641.6:c.967C>T p.Leu323= p.L323= ENST00000357641 NM_015695.2 323 Cta/Tta 0 -BRWD1 UCSF GRCh37 21 40670433 40670433 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 76 186 0 ENST00000333229.2:c.274G>A p.Glu92Lys p.E92K ENST00000333229 NM_018963.4 92 Gaa/Aaa 0 -BSN UCSF GRCh37 3 49680186 49680186 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 41 74 0 ENST00000296452.4:c.1119C>T p.Thr373= p.T373= ENST00000296452 NM_003458.3 373 acC/acT 0 -BTBD2 UCSF GRCh37 19 1987249 1987249 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 18 61 0 ENST00000255608.4:c.1185C>T p.Phe395= p.F395= ENST00000255608 NM_017797.3 395 ttC/ttT 0 -BTN2A2 UCSF GRCh37 6 26390245 26390245 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 51 171 0 ENST00000356709.4:c.737C>T p.Pro246Leu p.P246L ENST00000356709 NM_001197240.1 246 cCc/cTc 0 -BTNL8 UCSF GRCh37 5 180376251 180376251 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 44 122 0 ENST00000340184.4:c.848C>T p.Ala283Val p.A283V ENST00000340184 NM_001040462.2 283 gCc/gTc 0 -BTNL8 UCSF GRCh37 5 180375366 180375366 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 145 125 273 0 ENST00000340184.4:c.799G>A p.Ala267Thr p.A267T ENST00000340184 NM_001040462.2 267 Gcg/Acg 0 -C10orf120 UCSF GRCh37 10 124459232 124459232 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 64 155 0 ENST00000329446.4:c.75G>A p.Arg25= p.R25= ENST00000329446 NM_001010912.2 25 agG/agA 0 -C11orf30 UCSF GRCh37 11 76234205 76234205 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 102 214 0 ENST00000334736.3:c.1691C>T p.Thr564Ile p.T564I ENST00000334736 NM_020193.3 564 aCt/aTt 0 -C11orf31 UCSF GRCh37 11 57509417 57509417 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 26 49 0 ENST00000388857.4:c.259G>A p.Asp87Asn p.D87N ENST00000388857 87 Gac/Aac 0 -C11orf88 UCSF GRCh37 11 111386773 111386773 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 61 152 0 ENST00000375618.4:c.277G>A p.Asp93Asn p.D93N ENST00000375618 NM_001100388.1 93 Gac/Aac 0 -C11orf9 UCSF GRCh37 11 61550970 61550970 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 77 168 0 ENST00000278836.5:c.3017C>T p.Ala1006Val p.A1006V ENST00000278836 NM_001127392.1 1006 gCc/gTc 0 -C12orf34 UCSF GRCh37 12 110206997 110206997 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 13 16 24 0 ENST00000358906.3:c.1263C>T p.Ile421= p.I421= ENST00000358906 421 atC/atT 0 -C12orf48 UCSF GRCh37 12 102542198 102542198 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 93 144 0 ENST00000327680.2:c.101G>A p.Arg34Lys p.R34K ENST00000327680 NM_017915.3 34 aGg/aAg 0 -C12orf54 UCSF GRCh37 12 48888711 48888711 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 104 74 166 0 ENST00000314014.2:c.373C>T p.Pro125Ser p.P125S ENST00000314014 NM_152319.3 125 Cct/Tct 0 -C12orf54 UCSF GRCh37 12 48886731 48886731 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 29 84 0 ENST00000314014.2:c.195G>A p.Gly65= p.G65= ENST00000314014 NM_152319.3 65 ggG/ggA 0 -C14orf159 UCSF GRCh37 14 91671083 91671083 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 22 56 0 ENST00000428926.2:c.1463G>A p.Gly488Asp p.G488D ENST00000428926 NM_024952.6 488 gGt/gAt 0 -C14orf159 UCSF GRCh37 14 91691107 91691107 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 33 27 52 0 ENST00000428926.2:c.1781G>A p.Gly594Glu p.G594E ENST00000428926 NM_024952.6 594 gGg/gAg 0 -C14orf38 UCSF GRCh37 14 60027919 60027919 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 58 122 0 ENST00000537690.2:c.871G>A p.Ala291Thr p.A291T ENST00000537690 NM_001164399.1 291 Gca/Aca 0 -C14orf49 UCSF GRCh37 14 95921754 95921754 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 31 39 49 0 ENST00000334258.5:c.1097G>A p.Gly366Glu p.G366E ENST00000334258 NM_152592.3 366 gGg/gAg 0 -C15orf23 UCSF GRCh37 15 40683693 40683693 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 47 125 0 ENST00000249776.8:c.686-1G>A p.X229_splice ENST00000249776 NM_033286.3 0 -C15orf33 UCSF GRCh37 15 49659753 49659753 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 50 138 0 ENST00000299338.6:c.1163G>A p.Gly388Glu p.G388E ENST00000299338 NM_152647.2 388 gGa/gAa 0 -C15orf40 UCSF GRCh37 15 83677377 83677377 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 72 162 0 ENST00000304177.5:c.208G>A p.Gly70Arg p.G70R ENST00000304177 NM_144597.2 70 Gga/Aga 0 -C15orf42 UCSF GRCh37 15 90167242 90167242 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 97 180 0 ENST00000268138.7:c.3701C>T p.Ala1234Val p.A1234V ENST00000268138 1234 gCc/gTc 0 -C15orf42 UCSF GRCh37 15 90119379 90119379 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 30 66 0 ENST00000268138.7:c.562G>A p.Val188Met p.V188M ENST00000268138 188 Gtg/Atg 0 -C16orf3 UCSF GRCh37 16 90095702 90095702 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 29 69 0 ENST00000408886.2:c.49C>T p.Pro17Ser p.P17S ENST00000408886 NM_001214.3 17 Ccc/Tcc 0 -C16orf48 UCSF GRCh37 16 67698965 67698965 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 56 148 0 ENST00000243878.4:c.387C>T p.Pro129= p.P129= ENST00000243878 NM_032140.1 129 ccC/ccT 0 -C17orf104 UCSF GRCh37 17 42743859 42743859 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 110 244 0 ENST00000409122.2:c.580G>A p.Ala194Thr p.A194T ENST00000409122 NM_001145080.2 194 Gct/Act 0 -SEPTIN4 UCSF GRCh37 17 56620740 56620740 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 107 214 0 ENST00000321691.3:c.808G>A p.Asp270Asn p.D270N ENST00000321691 NM_001038704.2 270 Gac/Aac 0 -C17orf63 UCSF GRCh37 17 27086333 27086333 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 12 40 0 ENST00000452648.3:c.644C>T p.Ala215Val p.A215V ENST00000452648 215 gCt/gTt 0 -C17orf87 UCSF GRCh37 17 5114220 5114220 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 56 114 0 ENST00000574081.1:c.314C>T p.Ala105Val p.A105V ENST00000574081 NM_001271842.1 105 gCt/gTt 0 -C17orf87 UCSF GRCh37 17 5126707 5126707 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 118 49 211 0 ENST00000574081.1:c.66C>T p.Ile22= p.I22= ENST00000574081 NM_001271842.1 22 atC/atT 0 -C18orf45 UCSF GRCh37 18 20878020 20878020 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 37 75 0 ENST00000383233.3:c.842G>A p.Gly281Asp p.G281D ENST00000383233 NM_032933.4 281 gGt/gAt 0 -C19orf12 UCSF GRCh37 19 30199172 30199172 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 59 128 0 ENST00000392278.2:c.182G>A p.Gly61Glu p.G61E ENST00000392278 NM_001031726.3 61 gGa/gAa 0 -C19orf21 UCSF GRCh37 19 758600 758600 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 47 74 0 ENST00000215582.6:c.1654G>A p.Glu552Lys p.E552K ENST00000215582 NM_173481.2 552 Gag/Aag 0 -C19orf22 UCSF GRCh37 19 902122 902122 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 26 69 0 ENST00000361574.5:c.80C>T p.Pro27Leu p.P27L ENST00000361574 NM_138774.3 27 cCc/cTc 0 -C19orf44 UCSF GRCh37 19 16625456 16625456 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 11 22 0 ENST00000221671.3:c.1884C>T p.Thr628= p.T628= ENST00000221671 NM_032207.2 628 acC/acT 0 -C1orf227 UCSF GRCh37 1 213009442 213009442 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 78 204 0 ENST00000332912.3:c.50G>A p.Ser17Asn p.S17N ENST00000332912 NM_001024601.2 17 aGc/aAc 0 -C1orf27 UCSF GRCh37 1 186349002 186349002 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 76 191 0 ENST00000287859.6:c.85C>T p.Leu29Phe p.L29F ENST00000287859 NM_017847.5 29 Ctt/Ttt 0 -C1orf53 UCSF GRCh37 1 197874934 197874934 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 98 95 175 0 ENST00000367393.3:c.273G>A p.Gln91= p.Q91= ENST00000367393 NM_001024594.2 91 caG/caA 0 -C1orf85 UCSF GRCh37 1 156264741 156264741 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 46 96 0 ENST00000362007.1:c.187G>A p.Gly63Ser p.G63S ENST00000362007 NM_001256609.1 63 Ggc/Agc 0 -C1orf87 UCSF GRCh37 1 60505833 60505833 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 77 151 0 ENST00000371201.3:c.503G>A p.Ser168Asn p.S168N ENST00000371201 NM_152377.2 168 aGt/aAt 0 -C1QA UCSF GRCh37 1 22964259 22964259 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 15 23 1 ENST00000374642.3:c.150G>A p.Glu50= p.E50= ENST00000374642 NM_015991.2 50 gaG/gaA 0 -C1QTNF1 UCSF GRCh37 17 77042661 77042661 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 81 127 0 ENST00000339142.2:c.180C>T p.Tyr60= p.Y60= ENST00000339142 NM_198593.3 60 taC/taT 0 -C1QTNF5 UCSF GRCh37 11 119210158 119210158 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 53 106 0 ENST00000528368.1:c.615G>A p.Val205= p.V205= ENST00000528368 NM_001278431.1 205 gtG/gtA 0 -C1R UCSF GRCh37 12 7242704 7242704 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 46 104 0 ENST00000542285.1:c.369G>A p.Glu123= p.E123= ENST00000542285 123 gaG/gaA 0 -C20orf103 UCSF GRCh37 20 9496254 9496254 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 90 162 0 ENST00000246070.2:c.219G>A p.Trp73Ter p.W73* ENST00000246070 NM_012261.3 73 tgG/tgA 0 -C20orf165 UCSF GRCh37 20 44515234 44515234 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 73 133 0 ENST00000372519.3:c.606G>A p.Gln202= p.Q202= ENST00000372519 NM_080608.3 202 caG/caA 0 -C20orf26 UCSF GRCh37 20 20177327 20177327 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 137 141 215 0 ENST00000245957.5:c.1704G>A p.Arg568= p.R568= ENST00000245957 NM_015585.3 568 cgG/cgA 0 -C20orf43 UCSF GRCh37 20 55052172 55052172 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 47 69 0 ENST00000357348.5:c.480C>T p.Gly160= p.G160= ENST00000357348 NM_001283035.1 160 ggC/ggT 0 -C21orf62 UCSF GRCh37 21 34166277 34166277 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 60 108 0 ENST00000479548.1:c.456G>A p.Glu152= p.E152= ENST00000479548 152 gaG/gaA 0 -C22orf29 UCSF GRCh37 22 19839078 19839078 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 63 121 0 ENST00000328554.4:c.707C>T p.Ala236Val p.A236V ENST00000328554 NM_024627.5 236 gCc/gTc 0 -C2orf49 UCSF GRCh37 2 105959619 105959619 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 55 146 0 ENST00000258457.2:c.581C>T p.Pro194Leu p.P194L ENST00000258457 194 cCt/cTt 0 -C2orf53 UCSF GRCh37 2 27360284 27360284 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 36 76 0 ENST00000335524.3:c.914G>A p.Gly305Asp p.G305D ENST00000335524 NM_178553.3 305 gGc/gAc 0 -C2orf78 UCSF GRCh37 2 74041181 74041181 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 134 109 249 0 ENST00000409561.1:c.675C>T p.Cys225= p.C225= ENST00000409561 NM_001080474.1 225 tgC/tgT 0 -C2orf80 UCSF GRCh37 2 209046029 209046029 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 44 132 0 ENST00000341287.4:c.207G>A p.Leu69= p.L69= ENST00000341287 NM_001099334.2 69 ctG/ctA 0 -C3orf20 UCSF GRCh37 3 14768455 14768455 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 60 113 0 ENST00000253697.3:c.1614C>T p.Ser538= p.S538= ENST00000253697 NM_032137.4 538 agC/agT 0 -C3orf77 UCSF GRCh37 3 44312208 44312208 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 52 117 0 ENST00000309765.4:c.3278C>T p.Pro1093Leu p.P1093L ENST00000309765 NM_001145030.1 1093 cCc/cTc 0 -C5 UCSF GRCh37 9 123785682 123785682 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 250 125 231 0 ENST00000223642.1:c.1116G>A p.Lys372= p.K372= ENST00000223642 NM_001735.2 372 aaG/aaA 0 -C6orf162 UCSF GRCh37 6 88046815 88046815 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 65 160 0 ENST00000229570.5:c.66C>T p.Ser22= p.S22= ENST00000229570 NM_020425.4 22 agC/agT 0 -C6orf211 UCSF GRCh37 6 151775763 151775763 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 50 138 0 ENST00000367294.3:c.122G>A p.Ser41Asn p.S41N ENST00000367294 NM_024573.1 41 aGt/aAt 0 -C6orf26 UCSF GRCh37 6 31732246 31732246 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 34 101 0 ENST00000425424.1:c.385C>T p.Pro129Ser p.P129S ENST00000425424 129 Cca/Tca 0 -C6orf97 UCSF GRCh37 6 151917610 151917610 + synonymous_variant Silent SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 74 74 154 0 ENST00000239374.7:c.1608G>A p.Arg536= p.R536= ENST00000239374 NM_025059.3 536 agG/agA 0 -C6orf97 UCSF GRCh37 6 151907095 151907095 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 25 79 0 ENST00000239374.7:c.1164G>A p.Gln388= p.Q388= ENST00000239374 NM_025059.3 388 caG/caA 0 -C7orf25 UCSF GRCh37 7 42950222 42950222 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 120 114 200 0 ENST00000350427.4:c.278G>A p.Gly93Asp p.G93D ENST00000350427 93 gGt/gAt 0 -C8B UCSF GRCh37 1 57399066 57399066 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 43 112 0 ENST00000371237.4:c.1494G>A p.Lys498= p.K498= ENST00000371237 NM_000066.3 498 aaG/aaA 0 -C8orf58 UCSF GRCh37 8 22459558 22459558 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 13 16 0 ENST00000289989.5:c.731G>A p.Gly244Glu p.G244E ENST00000289989 244 gGg/gAg 0 -C9orf172 UCSF GRCh37 9 139741661 139741661 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 13 11 0 ENST00000436881.1:c.2795G>A p.Arg932Lys p.R932K ENST00000436881 NM_001080482.2 932 aGg/aAg 0 -C9orf172 UCSF GRCh37 9 139739794 139739794 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 42 22 46 0 ENST00000436881.1:c.928T>C p.Tyr310His p.Y310H ENST00000436881 NM_001080482.2 310 Tat/Cat 0 -C9orf79 UCSF GRCh37 9 90499973 90499973 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 161 64 124 0 ENST00000325643.5:c.571C>T p.Pro191Ser p.P191S ENST00000325643 NM_178828.4 191 Cca/Tca 0 -C9orf79 UCSF GRCh37 9 90500779 90500779 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 201 106 183 0 ENST00000325643.5:c.1377G>A p.Arg459= p.R459= ENST00000325643 NM_178828.4 459 agG/agA 0 -C9orf86 UCSF GRCh37 9 139726289 139726289 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 33 63 0 ENST00000311502.7:c.575G>A p.Arg192His p.R192H ENST00000311502 192 cGt/cAt 0 -C9orf96 UCSF GRCh37 9 136268843 136268843 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 17 54 0 ENST00000371957.3:c.1494C>T p.Ala498= p.A498= ENST00000371957 NM_153710.4 498 gcC/gcT 0 -CA11 UCSF GRCh37 19 49143459 49143459 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 37 92 0 ENST00000084798.4:c.364G>A p.Gly122Ser p.G122S ENST00000084798 NM_001217.3 122 Ggt/Agt 0 -CA2 UCSF GRCh37 8 86377684 86377684 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 43 99 0 ENST00000285379.5:c.218C>T p.Ser73Phe p.S73F ENST00000285379 NM_000067.2 73 tCt/tTt 0 -CA8 UCSF GRCh37 8 61135318 61135318 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 44 100 0 ENST00000317995.4:c.628C>T p.Pro210Ser p.P210S ENST00000317995 NM_004056.4 210 Cct/Tct 0 -CACNA1B UCSF GRCh37 9 141015928 141015928 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 20 39 0 ENST00000371372.1:c.6497G>A p.Gly2166Asp p.G2166D ENST00000371372 NM_001243812.1 2166 gGt/gAt 0 -CACNA1B UCSF GRCh37 9 140811871 140811871 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 178 77 151 0 ENST00000371372.1:c.954C>T p.Asp318= p.D318= ENST00000371372 NM_001243812.1 318 gaC/gaT 0 -CACNA1B UCSF GRCh37 9 141012494 141012494 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 29 49 0 ENST00000371372.1:c.5874C>T p.Gly1958= p.G1958= ENST00000371372 NM_001243812.1 1958 ggC/ggT 0 -CACNA1C UCSF GRCh37 12 2614007 2614007 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 69 134 0 ENST00000347598.4:c.1114-1G>A p.X372_splice ENST00000347598 NM_199460.2 0 -CACNA1C UCSF GRCh37 12 2675744 2675744 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 32 55 0 ENST00000347598.4:c.1665C>T p.Val555= p.V555= ENST00000347598 NM_199460.2 555 gtC/gtT 0 -CACNA1H UCSF GRCh37 16 1260652 1260652 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 37 49 0 ENST00000348261.5:c.4038+1G>A p.X1346_splice ENST00000348261 NM_021098.2 0 -CACNA2D2 UCSF GRCh37 3 50404048 50404048 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 23 52 0 ENST00000479441.1:c.2619C>T p.Pro873= p.P873= ENST00000479441 873 ccC/ccT 0 -CACNA2D3 UCSF GRCh37 3 54880479 54880479 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 50 126 0 ENST00000288197.5:c.1611G>A p.Pro537= p.P537= ENST00000288197 537 ccG/ccA 0 -CACNA2D4 UCSF GRCh37 12 1910226 1910226 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 28 56 0 ENST00000382722.5:c.2851G>A p.Ala951Thr p.A951T ENST00000382722 NM_172364.4 951 Gcc/Acc 0 -CACNA2D4 UCSF GRCh37 12 2022207 2022207 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 57 131 1 ENST00000382722.5:c.408G>A p.Arg136= p.R136= ENST00000382722 NM_172364.4 136 agG/agA 0 -CADM1 UCSF GRCh37 11 115109292 115109292 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 73 143 0 ENST00000452722.3:c.352G>A p.Asp118Asn p.D118N ENST00000452722 NM_014333.3 118 Gat/Aat 0 -CADPS2 UCSF GRCh37 7 122377008 122377008 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 63 178 0 ENST00000449022.2:c.453+1G>A p.X151_splice ENST00000449022 NM_017954.10 0 -CADPS2 UCSF GRCh37 7 122303612 122303612 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 76 183 0 ENST00000449022.2:c.465G>A p.Lys155= p.K155= ENST00000449022 NM_017954.10 155 aaG/aaA 0 -CADPS2 UCSF GRCh37 7 122377060 122377060 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 63 157 0 ENST00000449022.2:c.402C>T p.Thr134= p.T134= ENST00000449022 NM_017954.10 134 acC/acT 0 -CALCB UCSF GRCh37 11 15098966 15098966 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 36 97 0 ENST00000324229.6:c.359G>A p.Arg120Lys p.R120K ENST00000324229 NM_000728.3 120 aGg/aAg 0 -CAMKK2 UCSF GRCh37 12 121687675 121687675 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 40 130 0 ENST00000324774.5:c.1238C>T p.Pro413Leu p.P413L ENST00000324774 NM_006549.3 413 cCc/cTc 0 -CAMKK2 UCSF GRCh37 12 121711908 121711908 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 10 13 0 ENST00000324774.5:c.422C>T p.Pro141Leu p.P141L ENST00000324774 NM_006549.3 141 cCc/cTc 0 -CAMTA2 UCSF GRCh37 17 4876206 4876206 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 64 100 0 ENST00000348066.3:c.2361C>T p.Asp787= p.D787= ENST00000348066 NM_015099.3 787 gaC/gaT 0 -CAMT-ND1 UCSF GRCh37 12 67696174 67696174 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 117 103 188 0 ENST00000545606.1:c.1072G>A p.Asp358Asn p.D358N ENST00000545606 NM_018448.3 358 Gat/Aat 0 -CARD11 UCSF GRCh37 7 2977659 2977659 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 64 63 136 0 ENST00000396946.4:c.1025A>G p.Glu342Gly p.E342G ENST00000396946 NM_032415.4 342 gAg/gGg 0 -CARD14 UCSF GRCh37 17 78169384 78169384 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 16 29 0 ENST00000344227.2:c.1527C>T p.Asp509= p.D509= ENST00000344227 NM_024110.4 509 gaC/gaT 0 -CARD17P UCSF GRCh37 11 104971470 104971470 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 131 125 228 0 ENST00000375707.1:c.44G>A p.Arg15His p.R15H ENST00000375707 NM_001007232.1 15 cGt/cAt 0 -CARD9 UCSF GRCh37 9 139265296 139265296 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 21 57 0 ENST00000371732.5:c.624G>A p.Leu208= p.L208= ENST00000371732 NM_052813.4 208 ctG/ctA 0 -CASC5 UCSF GRCh37 15 40915103 40915103 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 99 194 0 ENST00000346991.5:c.2719G>A p.Glu907Lys p.E907K ENST00000346991 907 Gaa/Aaa 0 -CASKIN2 UCSF GRCh37 17 73501718 73501718 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 60 116 0 ENST00000321617.3:c.850C>T p.Leu284= p.L284= ENST00000321617 NM_020753.4 284 Ctg/Ttg 0 -CASP7 UCSF GRCh37 10 115481526 115481526 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 58 147 0 ENST00000345633.4:c.364C>T p.Leu122= p.L122= ENST00000345633 NM_033339.4 122 Ctg/Ttg 0 -CASR UCSF GRCh37 3 122003642 122003642 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 61 65 0 ENST00000490131.1:c.2841C>T p.Pro947= p.P947= ENST00000490131 NM_000388.3 947 ccC/ccT 0 -CAST UCSF GRCh37 5 96089776 96089776 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 59 136 0 ENST00000341926.3:c.1288C>T p.Pro430Ser p.P430S ENST00000341926 430 Cca/Tca 0 -CASZ1 UCSF GRCh37 1 10720370 10720370 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 39 40 55 0 ENST00000377022.3:c.729C>T p.Ile243= p.I243= ENST00000377022 NM_001079843.2 243 atC/atT 0 -CATSPER1 UCSF GRCh37 11 65793321 65793321 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 30 71 0 ENST00000312106.5:c.530G>A p.Gly177Glu p.G177E ENST00000312106 NM_053054.3 177 gGg/gAg 0 -CATSPERB UCSF GRCh37 14 92159568 92159568 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 75 196 0 ENST00000256343.3:c.733G>A p.Val245Met p.V245M ENST00000256343 NM_024764.2 245 Gtg/Atg 0 -CBLN1 UCSF GRCh37 16 49315254 49315254 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 32 57 0 ENST00000219197.6:c.123C>T p.Asn41= p.N41= ENST00000219197 NM_004352.3 41 aaC/aaT 0 -CBX6 UCSF GRCh37 22 39262814 39262814 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 34 53 0 ENST00000407418.3:c.639G>A p.Lys213= p.K213= ENST00000407418 213 aaG/aaA 0 -CBY3 UCSF GRCh37 5 179106004 179106004 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 6 10 0 ENST00000376974.4:c.309C>T p.Thr103= p.T103= ENST00000376974 NM_001164444.1 103 acC/acT 0 -CCBP2 UCSF GRCh37 3 42907103 42907103 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 60 116 0 ENST00000273145.2:c.1109C>T p.Ser370Phe p.S370F ENST00000273145 370 tCt/tTt 0 -CCDC108 UCSF GRCh37 2 219870840 219870840 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 32 63 0 ENST00000341552.5:c.4825C>T p.Pro1609Ser p.P1609S ENST00000341552 NM_194302.3 1609 Cca/Tca 0 -CCDC109B UCSF GRCh37 4 110606512 110606512 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 62 143 0 ENST00000394650.4:c.922G>A p.Asp308Asn p.D308N ENST00000394650 NM_017918.4 308 Gac/Aac 0 -CCDC120 UCSF GRCh37 X 48920079 48920079 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 16 43 0 ENST00000496529.2:c.130G>A p.Glu44Lys p.E44K ENST00000496529 44 Gag/Aag 0 -CCDC129 UCSF GRCh37 7 31692331 31692331 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 70 179 0 ENST00000407970.3:c.3023C>T p.Thr1008Ile p.T1008I ENST00000407970 NM_194300.3 1008 aCc/aTc 0 -CCDC151 UCSF GRCh37 19 11537720 11537720 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 35 52 0 ENST00000356392.4:c.585G>A p.Ala195= p.A195= ENST00000356392 NM_145045.4 195 gcG/gcA 0 -CCDC160 UCSF GRCh37 X 133379275 133379275 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 76 164 0 ENST00000370809.4:c.445C>T p.Leu149Phe p.L149F ENST00000370809 NM_001101357.1 149 Ctt/Ttt 0 -CCDC17 UCSF GRCh37 1 46087330 46087330 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 10 31 0 ENST00000528266.1:c.1164C>T p.Gly388= p.G388= ENST00000528266 388 ggC/ggT 0 -CCDC19 UCSF GRCh37 1 159847195 159847195 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 93 189 1 ENST00000368099.4:c.1102G>A p.Glu368Lys p.E368K ENST00000368099 NM_012337.2 368 Gag/Aag 0 -CCDC38 UCSF GRCh37 12 96310966 96310966 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 61 137 0 ENST00000344280.3:c.245G>A p.Ser82Asn p.S82N ENST00000344280 NM_182496.2 82 aGt/aAt 0 -CCDC38 UCSF GRCh37 12 96263314 96263314 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 117 99 195 0 ENST00000344280.3:c.1522C>T p.Gln508Ter p.Q508* ENST00000344280 NM_182496.2 508 Caa/Taa 0 -CCDC40 UCSF GRCh37 17 78073441 78073441 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 49 102 0 ENST00000397545.4:c.3296G>A p.Arg1099His p.R1099H ENST00000397545 NM_017950.3 1099 cGc/cAc 0 -CCDC60 UCSF GRCh37 12 119909884 119909884 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 125 106 204 0 ENST00000327554.2:c.256C>T p.Leu86Phe p.L86F ENST00000327554 NM_178499.3 86 Ctt/Ttt 0 -CCDC61 UCSF GRCh37 19 46519955 46519955 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 12 32 0 ENST00000595358.1:c.1095G>A p.Gln365= p.Q365= ENST00000595358 NM_001267723.1 365 caG/caA 0 -CCDC67 UCSF GRCh37 11 93122241 93122241 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 54 108 0 ENST00000298050.3:c.991C>T p.Leu331= p.L331= ENST00000298050 NM_181645.3 331 Ctg/Ttg 0 -CCDC69 UCSF GRCh37 5 150565012 150565012 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 79 173 0 ENST00000355417.2:c.586G>A p.Asp196Asn p.D196N ENST00000355417 NM_015621.2 196 Gac/Aac 0 -CCDC7 UCSF GRCh37 10 32740580 32740580 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 112 48 108 0 ENST00000277657.6:c.10G>A p.Val4Ile p.V4I ENST00000277657 NM_001026383.1 4 Gta/Ata 0 -CCDC83 UCSF GRCh37 11 85627205 85627205 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 91 208 0 ENST00000342404.3:c.1009G>A p.Glu337Lys p.E337K ENST00000342404 NM_001286159.1 337 Gaa/Aaa 0 -CCDC88C UCSF GRCh37 14 91766365 91766365 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 16 29 0 ENST00000389857.6:c.3685G>A p.Val1229Ile p.V1229I ENST00000389857 NM_001080414.3 1229 Gtc/Atc 0 -CCDC96 UCSF GRCh37 4 7043007 7043007 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 58 124 0 ENST00000310085.4:c.1659C>T p.Leu553= p.L553= ENST00000310085 NM_153376.2 553 ctC/ctT 0 -CCDC97 UCSF GRCh37 19 41822402 41822402 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 33 69 0 ENST00000269967.3:c.160G>A p.Asp54Asn p.D54N ENST00000269967 NM_052848.1 54 Gac/Aac 0 -CCNB3 UCSF GRCh37 X 50052651 50052651 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 47 140 0 ENST00000276014.7:c.1482G>A p.Lys494= p.K494= ENST00000276014 NM_033031.2 494 aaG/aaA 0 -CCNG1 UCSF GRCh37 5 162866334 162866334 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 85 187 0 ENST00000340828.2:c.72G>A p.Glu24= p.E24= ENST00000340828 NM_004060.3 24 gaG/gaA 0 -CCT6B UCSF GRCh37 17 33269619 33269619 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 32 117 0 ENST00000314144.5:c.769G>A p.Glu257Lys p.E257K ENST00000314144 NM_006584.3 257 Gag/Aag 0 -CCT8 UCSF GRCh37 21 30439086 30439086 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 47 127 0 ENST00000286788.4:c.575C>T p.Pro192Leu p.P192L ENST00000286788 NM_006585.2 192 cCt/cTt 0 -CD109 UCSF GRCh37 6 74519837 74519837 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 23 56 0 ENST00000287097.5:c.3486C>T p.Ile1162= p.I1162= ENST00000287097 1162 atC/atT 0 -CD163 UCSF GRCh37 12 7635298 7635298 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 96 209 0 ENST00000359156.4:c.3188C>T p.Ala1063Val p.A1063V ENST00000359156 NM_004244.5 1063 gCc/gTc 0 -CD163L1 UCSF GRCh37 12 7531826 7531826 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 43 127 0 ENST00000313599.3:c.2119G>A p.Val707Ile p.V707I ENST00000313599 707 Gtc/Atc 0 -CD1A UCSF GRCh37 1 158226682 158226682 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 62 158 0 ENST00000289429.5:c.711G>A p.Trp237Ter p.W237* ENST00000289429 NM_001763.2 237 tgG/tgA 0 -CD300C UCSF GRCh37 17 72537841 72537841 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 60 100 0 ENST00000330793.1:c.562G>A p.Val188Ile p.V188I ENST00000330793 NM_006678.4 188 Gtc/Atc 0 -CD34 UCSF GRCh37 1 208062847 208062847 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 36 97 0 ENST00000310833.7:c.717G>A p.Arg239= p.R239= ENST00000310833 NM_001025109.1 239 agG/agA 0 -CD80 UCSF GRCh37 3 119263481 119263481 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 78 159 0 ENST00000264246.3:c.334G>A p.Gly112Ser p.G112S ENST00000264246 NM_005191.3 112 Ggc/Agc 0 -CD93 UCSF GRCh37 20 23066153 23066153 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 84 147 0 ENST00000246006.4:c.677G>A p.Gly226Glu p.G226E ENST00000246006 NM_012072.3 226 gGg/gAg 0 -CDAN1 UCSF GRCh37 15 43023884 43023884 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 37 89 0 ENST00000356231.3:c.1673C>T p.Pro558Leu p.P558L ENST00000356231 NM_138477.2 558 cCc/cTc 0 -CDC42BPA UCSF GRCh37 1 227221096 227221096 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 60 88 0 ENST00000334218.5:c.3392G>A p.Ser1131Asn p.S1131N ENST00000334218 1131 aGt/aAt 0 -CDC42BPG UCSF GRCh37 11 64602989 64602989 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 58 100 1 ENST00000342711.5:c.1863G>A p.Glu621= p.E621= ENST00000342711 NM_017525.2 621 gaG/gaA 0 -CDC42BPG UCSF GRCh37 11 64597433 64597433 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 25 44 0 ENST00000342711.5:c.3477C>T p.Ala1159= p.A1159= ENST00000342711 NM_017525.2 1159 gcC/gcT 0 -CDH12 UCSF GRCh37 5 21765100 21765100 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 92 172 0 ENST00000382254.1:c.1502C>T p.Ala501Val p.A501V ENST00000382254 NM_004061.3 501 gCc/gTc 0 -CDH13 UCSF GRCh37 16 83065776 83065776 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 48 116 0 ENST00000268613.10:c.460G>A p.Ala154Thr p.A154T ENST00000268613 154 Gca/Aca 0 -CDH15 UCSF GRCh37 16 89245890 89245890 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 39 41 80 0 ENST00000289746.2:c.109G>A p.Ala37Thr p.A37T ENST00000289746 NM_004933.2 37 Gcg/Acg 0 -CDH16 UCSF GRCh37 16 66946301 66946301 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 65 136 0 ENST00000299752.4:c.1392G>A p.Glu464= p.E464= ENST00000299752 NM_001204744.1 464 gaG/gaA 0 -CDH2 UCSF GRCh37 18 25585916 25585916 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 71 155 0 ENST00000269141.3:c.744G>A p.Glu248= p.E248= ENST00000269141 NM_001792.3 248 gaG/gaA 0 -CDH22 UCSF GRCh37 20 44828073 44828073 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 19 26 0 ENST00000372262.3:c.1412C>T p.Ala471Val p.A471V ENST00000372262 471 gCc/gTc 0 -CDH23 UCSF GRCh37 10 73501557 73501557 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 33 70 0 ENST00000224721.6:c.4739C>T p.Ala1580Val p.A1580V ENST00000224721 NM_022124.5 1580 gCc/gTc 0 -CDH23 UCSF GRCh37 10 73574733 73574733 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 16 23 0 ENST00000224721.6:c.9778G>A p.Glu3260Lys p.E3260K ENST00000224721 NM_022124.5 3260 Gag/Aag 0 -CDH24 UCSF GRCh37 14 23523457 23523457 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 75 154 0 ENST00000267383.5:c.865G>A p.Gly289Arg p.G289R ENST00000267383 289 Ggg/Agg 0 -CDH4 UCSF GRCh37 20 59829975 59829975 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 73 117 0 ENST00000360469.5:c.151G>A p.Gly51Arg p.G51R ENST00000360469 NM_001794.3 51 Ggg/Agg 0 -CDH4 UCSF GRCh37 20 60318838 60318838 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 16 18 0 ENST00000360469.5:c.389G>A p.Gly130Glu p.G130E ENST00000360469 NM_001794.3 130 gGa/gAa 0 -CDH6 UCSF GRCh37 5 31317805 31317805 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 67 167 0 ENST00000265071.2:c.1656G>A p.Arg552= p.R552= ENST00000265071 NM_004932.3 552 cgG/cgA 0 -CDHR3 UCSF GRCh37 7 105635292 105635292 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 45 101 0 ENST00000317716.9:c.608+1G>A p.X203_splice ENST00000317716 NM_152750.4 0 -CDK14 UCSF GRCh37 7 90741873 90741873 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 117 98 194 0 ENST00000380050.3:c.1171C>T p.His391Tyr p.H391Y ENST00000380050 NM_001287137.1 391 Cat/Tat 0 -CDK15 UCSF GRCh37 2 202672281 202672281 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 71 209 0 ENST00000450471.2:c.188C>T p.Ala63Val p.A63V ENST00000450471 NM_001261435.1 63 gCc/gTc 0 -CDK15 UCSF GRCh37 2 202755512 202755512 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 39 142 0 ENST00000450471.2:c.1199-14G>A *400* ENST00000450471 NM_001261435.1 0 -CDK20 UCSF GRCh37 9 90582463 90582464 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P10_Rec Untested WXS Illumina HiSeq 10 0 ENST00000325303.8:c.955dup p.His319ProfsTer4 p.H319Pfs*4 ENST00000325303 NM_001039803.2 318 -/C 0 -CDK5R2 UCSF GRCh37 2 219825281 219825281 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 58 98 0 ENST00000302625.4:c.739C>T p.Leu247= p.L247= ENST00000302625 NM_003936.4 247 Ctg/Ttg 0 -CDK5RAP2 UCSF GRCh37 9 123291061 123291061 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 32 88 0 ENST00000349780.4:c.840G>A p.Glu280= p.E280= ENST00000349780 NM_018249.5 280 gaG/gaA 0 -CDKN2A UCSF GRCh37 9 21971017 21971017 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 0 36 38 0 ENST00000304494.5:c.341C>T p.Pro114Leu p.P114L ENST00000304494 NM_000077.4 114 cCc/cTc 0 -CDKN2AIP UCSF GRCh37 4 184367664 184367664 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 84 159 0 ENST00000504169.1:c.827G>A p.Gly276Asp p.G276D ENST00000504169 NM_017632.2 276 gGc/gAc 0 -CDKN2C UCSF GRCh37 1 51436058 51436058 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 64 120 0 ENST00000262662.1:c.18G>A p.Gly6= p.G6= ENST00000262662 6 ggG/ggA 0 -CDRT4 UCSF GRCh37 17 15341337 15341337 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 117 84 168 0 ENST00000312177.6:c.209C>T p.Ser70Phe p.S70F ENST00000312177 NM_001204477.1 70 tCc/tTc 0 -CDS2 UCSF GRCh37 20 5169773 5169773 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 76 174 0 ENST00000460006.1:c.1042C>T p.Leu348Phe p.L348F ENST00000460006 NM_003818.3 348 Ctc/Ttc 0 -CDS2 UCSF GRCh37 20 5170793 5170793 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 50 107 0 ENST00000460006.1:c.1251G>A p.Arg417= p.R417= ENST00000460006 NM_003818.3 417 cgG/cgA 0 -CEACAM1 UCSF GRCh37 19 43031476 43031476 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 90 231 0 ENST00000161559.6:c.141G>A p.Glu47= p.E47= ENST00000161559 NM_001712.4 47 gaG/gaA 0 -CEBPG UCSF GRCh37 19 33870315 33870315 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 51 125 0 ENST00000284000.4:c.170C>T p.Pro57Leu p.P57L ENST00000284000 NM_001806.3 57 cCc/cTc 0 -CELA3B UCSF GRCh37 1 22304890 22304890 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 49 113 0 ENST00000337107.6:c.72C>T p.Arg24= p.R24= ENST00000337107 NM_007352.2 24 cgC/cgT 0 -CELF3 UCSF GRCh37 1 151679767 151679767 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 9 8 0 ENST00000290583.4:c.776C>T p.Thr259Ile p.T259I ENST00000290583 NM_001172648.1 259 aCc/aTc 0 -CELF6 UCSF GRCh37 15 72579614 72579614 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 60 127 0 ENST00000287202.5:c.1438C>T p.Pro480Ser p.P480S ENST00000287202 NM_052840.4 480 Cct/Tct 0 -CELSR3 UCSF GRCh37 3 48688385 48688385 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 38 62 0 ENST00000164024.4:c.6310G>A p.Gly2104Ser p.G2104S ENST00000164024 NM_001407.2 2104 Ggc/Agc 0 -CENPF UCSF GRCh37 1 214818138 214818138 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 58 140 0 ENST00000366955.3:c.5225C>T p.Ser1742Phe p.S1742F ENST00000366955 NM_016343.3 1742 tCt/tTt 0 -CENPJ UCSF GRCh37 13 25480951 25480951 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 66 159 0 ENST00000381884.4:c.1225G>A p.Asp409Asn p.D409N ENST00000381884 NM_018451.4 409 Gac/Aac 0 -CENPJ UCSF GRCh37 13 25486880 25486880 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 85 211 0 ENST00000381884.4:c.284C>T p.Thr95Ile p.T95I ENST00000381884 NM_018451.4 95 aCc/aTc 0 -CENPO UCSF GRCh37 2 25040671 25040671 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 45 106 0 ENST00000260662.1:c.899C>T p.Ser300Phe p.S300F ENST00000260662 NM_024322.2 300 tCc/tTc 0 -CEP128 UCSF GRCh37 14 81259283 81259283 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 79 77 160 0 ENST00000281129.3:c.1381T>C p.Tyr461His p.Y461H ENST00000281129 NM_152446.3 461 Tac/Cac 0 -CEP164 UCSF GRCh37 11 117232558 117232558 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 108 172 0 ENST00000278935.3:c.401G>A p.Gly134Asp p.G134D ENST00000278935 NM_014956.4 134 gGt/gAt 0 -CEP250 UCSF GRCh37 20 34086486 34086486 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 55 164 0 ENST00000397527.1:c.3718G>A p.Ala1240Thr p.A1240T ENST00000397527 NM_007186.3 1240 Gca/Aca 0 -CEP290 UCSF GRCh37 12 88508271 88508271 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 105 65 180 0 ENST00000552810.1:c.1978G>A p.Glu660Lys p.E660K ENST00000552810 NM_025114.3 660 Gaa/Aaa 0 -CEP72 UCSF GRCh37 5 637780 637780 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 41 99 0 ENST00000264935.5:c.1053G>A p.Leu351= p.L351= ENST00000264935 NM_018140.3 351 ttG/ttA 0 -CEP78 UCSF GRCh37 9 80879119 80879119 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 181 85 205 0 ENST00000424347.2:c.1512C>T p.Ala504= p.A504= ENST00000424347 504 gcC/gcT 0 -CERCAM UCSF GRCh37 9 131193495 131193495 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 126 71 136 0 ENST00000372838.4:c.1116C>T p.Leu372= p.L372= ENST00000372838 NM_016174.4 372 ctC/ctT 0 -CFD UCSF GRCh37 19 861762 861762 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 11 10 0 ENST00000327726.6:c.421G>A p.Asp141Asn p.D141N ENST00000327726 NM_001928.2 141 Gac/Aac 0 -CFHR4 UCSF GRCh37 1 196871676 196871676 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 122 85 202 0 ENST00000367416.2:c.184C>T p.Pro62Ser p.P62S ENST00000367416 NM_001201551.1 62 Cct/Tct 0 -CFTR UCSF GRCh37 7 117120177 117120177 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 31 100 0 ENST00000003084.6:c.29G>A p.Ser10Asn p.S10N ENST00000003084 NM_000492.3 10 aGc/aAc 0 -CGN UCSF GRCh37 1 151491365 151491365 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 53 95 0 ENST00000271636.7:c.370C>T p.Pro124Ser p.P124S ENST00000271636 NM_020770.2 124 Cct/Tct 0 -CGRRF1 UCSF GRCh37 14 55004887 55004887 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 71 142 0 ENST00000216420.7:c.785G>A p.Ser262Asn p.S262N ENST00000216420 NM_006568.2 262 aGt/aAt 0 -CH25H UCSF GRCh37 10 90966981 90966981 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 9 24 0 ENST00000371852.2:c.69C>T p.Leu23= p.L23= ENST00000371852 NM_003956.3 23 ctC/ctT 0 -CHAF1B UCSF GRCh37 21 37763893 37763893 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 20 27 70 0 ENST00000314103.5:c.304G>A p.Glu102Lys p.E102K ENST00000314103 NM_005441.2 102 Gag/Aag 0 -CHD4 UCSF GRCh37 12 6687042 6687042 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 51 176 0 ENST00000357008.2:c.5270G>A p.Arg1757His p.R1757H ENST00000357008 NM_001273.2 1757 cGc/cAc 0 -CHD6 UCSF GRCh37 20 40112136 40112136 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 62 85 0 ENST00000373233.3:c.2281G>A p.Asp761Asn p.D761N ENST00000373233 NM_032221.4 761 Gat/Aat 0 -CHD6 UCSF GRCh37 20 40080485 40080485 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 60 124 0 ENST00000373233.3:c.3504G>A p.Gln1168= p.Q1168= ENST00000373233 NM_032221.4 1168 caG/caA 0 -CHD7 UCSF GRCh37 8 61754586 61754586 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 64 136 0 ENST00000423902.2:c.4825G>A p.Val1609Met p.V1609M ENST00000423902 NM_017780.3 1609 Gtg/Atg 0 -CHD8 UCSF GRCh37 14 21873407 21873407 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 122 112 197 0 ENST00000399982.2:c.3268G>A p.Glu1090Lys p.E1090K ENST00000399982 NM_001170629.1 1090 Gag/Aag 0 -CHD9 UCSF GRCh37 16 53190447 53190447 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 158 125 264 0 ENST00000398510.3:c.446C>T p.Ser149Phe p.S149F ENST00000398510 149 tCt/tTt 0 -CHEK2 UCSF GRCh37 22 29091791 29091791 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 62 154 0 ENST00000328354.6:c.1166C>T p.Thr389Ile p.T389I ENST00000328354 NM_007194.3 389 aCc/aTc 0 -CHGB UCSF GRCh37 20 5903741 5903741 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 50 128 0 ENST00000378961.4:c.951C>T p.Ser317= p.S317= ENST00000378961 NM_001819.2 317 agC/agT 0 -CHIA UCSF GRCh37 1 111861263 111861263 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 80 178 0 ENST00000343320.6:c.878C>T p.Pro293Leu p.P293L ENST00000343320 293 cCc/cTc 0 -CHM UCSF GRCh37 X 85133991 85133991 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 23 59 0 ENST00000357749.2:c.1588C>T p.Pro530Ser p.P530S ENST00000357749 NM_000390.2 530 Cca/Tca 0 -CHMP1B UCSF GRCh37 18 11851745 11851745 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 76 140 0 ENST00000526991.2:c.235G>A p.Val79Ile p.V79I ENST00000526991 NM_020412.4 79 Gtc/Atc 0 -CHORDC1 UCSF GRCh37 11 89947281 89947281 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 89 193 0 ENST00000320585.6:c.234G>A p.Lys78= p.K78= ENST00000320585 NM_012124.2 78 aaG/aaA 0 -CHRDL1 UCSF GRCh37 X 109931867 109931868 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 0 ENST00000372045.1:c.922dup p.Ile308AsnfsTer12 p.I308Nfs*12 ENST00000372045 307 -/A 0 -CHRNA10 UCSF GRCh37 11 3690508 3690508 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 31 66 0 ENST00000250699.2:c.280G>A p.Asp94Asn p.D94N ENST00000250699 NM_020402.2 94 Gac/Aac 0 -CHRNA4 UCSF GRCh37 20 61981790 61981790 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 50 97 0 ENST00000370263.4:c.973G>A p.Val325Ile p.V325I ENST00000370263 NM_000744.6 325 Gtc/Atc 0 -CHST8 UCSF GRCh37 19 34263008 34263008 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 22 34 0 ENST00000262622.4:c.315G>A p.Leu105= p.L105= ENST00000262622 NM_022467.3 105 ctG/ctA 0 -CHST9 UCSF GRCh37 18 24496452 24496452 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 163 246 0 ENST00000581714.1:c.1103G>A p.Gly368Glu p.G368E ENST00000581714 368 gGg/gAg 0 -CHST9 UCSF GRCh37 18 24497034 24497034 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 120 120 227 0 ENST00000581714.1:c.521C>T p.Thr174Ile p.T174I ENST00000581714 174 aCc/aTc 0 -CHSY3 UCSF GRCh37 5 129521088 129521088 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 78 199 0 ENST00000305031.4:c.2253C>T p.Asp751= p.D751= ENST00000305031 NM_175856.4 751 gaC/gaT 0 -CHTF18 UCSF GRCh37 16 842965 842965 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 10 11 0 ENST00000262315.9:c.1573-1G>A p.X525_splice ENST00000262315 NM_022092.2 0 -CHTF18 UCSF GRCh37 16 844054 844054 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 31 55 0 ENST00000262315.9:c.1803G>A p.Arg601= p.R601= ENST00000262315 NM_022092.2 601 agG/agA 0 -CIC UCSF GRCh37 19 42790972 42790972 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 21 45 0 ENST00000575354.2:c.117C>T p.Ser39= p.S39= ENST00000575354 NM_015125.3 39 tcC/tcT 0 -CIC UCSF GRCh37 19 42791210 42791210 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 40 64 0 ENST00000575354.2:c.270G>A p.Gly90= p.G90= ENST00000575354 NM_015125.3 90 ggG/ggA 0 -CIRBP UCSF GRCh37 19 1272022 1272022 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 52 90 0 ENST00000320936.5:c.474G>A p.Gly158= p.G158= ENST00000320936 NM_001280.2 158 ggG/ggA 0 -CIZ1 UCSF GRCh37 9 130931423 130931423 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 217 76 178 0 ENST00000372938.5:c.2203G>A p.Asp735Asn p.D735N ENST00000372938 NM_001131016.1 735 Gac/Aac 0 -CKAP5 UCSF GRCh37 11 46818424 46818424 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 111 175 0 ENST00000529230.1:c.1405G>A p.Val469Met p.V469M ENST00000529230 469 Gtg/Atg 0 -CLASP1 UCSF GRCh37 2 122165194 122165194 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 157 121 219 0 ENST00000263710.4:c.2522G>A p.Gly841Asp p.G841D ENST00000263710 NM_015282.2 841 gGc/gAc 0 -CLASRP UCSF GRCh37 19 45563812 45563812 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 18 57 0 ENST00000221455.3:c.790G>A p.Gly264Arg p.G264R ENST00000221455 NM_007056.2 264 Gga/Aga 0 -CLCN6 UCSF GRCh37 1 11896117 11896117 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 31 52 0 ENST00000346436.6:c.1887C>T p.Val629= p.V629= ENST00000346436 NM_001286.3 629 gtC/gtT 0 -CLCN7 UCSF GRCh37 16 1500610 1500610 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 10 17 0 ENST00000382745.4:c.1505G>A p.Cys502Tyr p.C502Y ENST00000382745 NM_001287.5 502 tGc/tAc 0 -CLDN9 UCSF GRCh37 16 3063446 3063446 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 26 56 0 ENST00000445369.2:c.83C>T p.Pro28Leu p.P28L ENST00000445369 NM_020982.3 28 cCc/cTc 0 -CLDN9 UCSF GRCh37 16 3063919 3063919 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 29 58 0 ENST00000445369.2:c.556C>T p.Pro186Ser p.P186S ENST00000445369 NM_020982.3 186 Ccc/Tcc 0 -CLEC16A UCSF GRCh37 16 11272427 11272427 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 53 88 0 ENST00000409790.1:c.3042C>T p.Asp1014= p.D1014= ENST00000409790 NM_015226.2 1014 gaC/gaT 0 -CLEC1B UCSF GRCh37 12 10147756 10147756 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 130 241 0 ENST00000298527.6:c.528G>A p.Ser176= p.S176= ENST00000298527 NM_016509.3 176 tcG/tcA 0 -CLEC4M UCSF GRCh37 19 7828322 7828322 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 87 157 0 ENST00000327325.5:c.90C>T p.Asp30= p.D30= ENST00000327325 NM_001144909.1 30 gaC/gaT 0 -CLK4 UCSF GRCh37 5 178043923 178043923 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 37 89 0 ENST00000316308.4:c.502G>A p.Gly168Arg p.G168R ENST00000316308 NM_020666.2 168 Gga/Aga 0 -CLPB UCSF GRCh37 11 72005736 72005736 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 48 100 0 ENST00000294053.3:c.1578G>A p.Gly526= p.G526= ENST00000294053 NM_001258394.1 526 ggG/ggA 0 -CLPP UCSF GRCh37 19 6364519 6364519 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 19 24 0 ENST00000245816.4:c.424C>T p.Pro142Ser p.P142S ENST00000245816 NM_006012.2 142 Ccg/Tcg 0 -CLPTM1L UCSF GRCh37 5 1344507 1344507 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 20 73 0 ENST00000320895.5:c.222C>T p.Val74= p.V74= ENST00000320895 NM_030782.3 74 gtC/gtT 0 -CLU UCSF GRCh37 8 27462723 27462723 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 41 87 0 ENST00000316403.10:c.547G>A p.Ala183Thr p.A183T ENST00000316403 183 Gcg/Acg 0 -CLVS1 UCSF GRCh37 8 62212733 62212733 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 60 128 0 ENST00000325897.4:c.347C>T p.Pro116Leu p.P116L ENST00000325897 NM_173519.2 116 cCc/cTc 0 -CLVS2 UCSF GRCh37 6 123319199 123319199 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 77 150 0 ENST00000275162.5:c.277G>A p.Asp93Asn p.D93N ENST00000275162 NM_001010852.3 93 Gac/Aac 0 -CMIP UCSF GRCh37 16 81703821 81703821 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 59 97 0 ENST00000537098.3:c.900G>A p.Gly300= p.G300= ENST00000537098 NM_198390.2 300 ggG/ggA 0 -CMYA5 UCSF GRCh37 5 79026452 79026452 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 137 147 275 0 ENST00000446378.2:c.1864G>A p.Glu622Lys p.E622K ENST00000446378 NM_153610.3 622 Gaa/Aaa 0 -CMYA5 UCSF GRCh37 5 79029525 79029525 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 125 115 192 0 ENST00000446378.2:c.4937G>A p.Gly1646Asp p.G1646D ENST00000446378 NM_153610.3 1646 gGt/gAt 0 -CMYA5 UCSF GRCh37 5 79034504 79034504 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 138 132 232 0 ENST00000446378.2:c.9916G>A p.Glu3306Lys p.E3306K ENST00000446378 NM_153610.3 3306 Gaa/Aaa 0 -CNGA1 UCSF GRCh37 4 47939393 47939393 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 134 126 236 0 ENST00000358519.4:c.1118C>T p.Ser373Phe p.S373F ENST00000358519 373 tCt/tTt 0 -CNGA1 UCSF GRCh37 4 47942856 47942856 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 63 164 0 ENST00000358519.4:c.588C>T p.Tyr196= p.Y196= ENST00000358519 196 taC/taT 0 -CNGB1 UCSF GRCh37 16 57937766 57937766 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 25 63 0 ENST00000251102.8:c.2754G>A p.Lys918= p.K918= ENST00000251102 NM_001297.4 918 aaG/aaA 0 -CNKSR2 UCSF GRCh37 X 21627446 21627446 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 87 187 0 ENST00000379510.3:c.2403C>T p.Ser801= p.S801= ENST00000379510 NM_014927.3 801 tcC/tcT 0 -CNN2 UCSF GRCh37 19 1037819 1037819 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 65 127 0 ENST00000263097.4:c.850C>T p.Pro284Ser p.P284S ENST00000263097 NM_004368.2 284 Ccc/Tcc 0 -CNPY4 UCSF GRCh37 7 99717410 99717410 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 37 86 0 ENST00000262932.3:c.43G>A p.Ala15Thr p.A15T ENST00000262932 NM_152755.1 15 Gcc/Acc 0 -CNR1 UCSF GRCh37 6 88853924 88853924 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 102 154 0 ENST00000369499.2:c.1070G>A p.Gly357Asp p.G357D ENST00000369499 357 gGc/gAc 0 -CNTFR UCSF GRCh37 9 34557523 34557523 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 33 67 0 ENST00000351266.4:c.604+1G>A p.X202_splice ENST00000351266 NM_001842.4 0 -CNTN1 UCSF GRCh37 12 41330588 41330588 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 102 182 0 ENST00000347616.1:c.991C>T p.Pro331Ser p.P331S ENST00000347616 331 Cct/Tct 0 -CNTN2 UCSF GRCh37 1 205038637 205038637 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 22 41 0 ENST00000331830.4:c.2144C>T p.Ser715Leu p.S715L ENST00000331830 NM_005076.3 715 tCa/tTa 0 -CNTN2 UCSF GRCh37 1 205039621 205039621 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 14 44 0 ENST00000331830.4:c.2499G>A p.Trp833Ter p.W833* ENST00000331830 NM_005076.3 833 tgG/tgA 0 -COBRA1 UCSF GRCh37 9 140151381 140151381 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 119 50 118 0 ENST00000343053.4:c.472G>A p.Gly158Arg p.G158R ENST00000343053 NM_015456.3 158 Ggg/Agg 0 -COIL UCSF GRCh37 17 55028356 55028356 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 62 113 0 ENST00000240316.4:c.247G>A p.Val83Ile p.V83I ENST00000240316 NM_004645.2 83 Gtt/Att 0 -COL12A1 UCSF GRCh37 6 75898105 75898105 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 73 183 0 ENST00000322507.8:c.970C>T p.Leu324Phe p.L324F ENST00000322507 NM_004370.5 324 Ctt/Ttt 0 -COL14A1 UCSF GRCh37 8 121215987 121215987 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 36 85 0 ENST00000297848.3:c.917C>T p.Ala306Val p.A306V ENST00000297848 NM_021110.2 306 gCc/gTc 0 -COL14A1 UCSF GRCh37 8 121313017 121313017 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 304 89 204 0 ENST00000297848.3:c.4361C>T p.Ser1454Phe p.S1454F ENST00000297848 NM_021110.2 1454 tCt/tTt 0 -COL15A1 UCSF GRCh37 9 101810250 101810250 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 37 58 0 ENST00000375001.3:c.2761G>A p.Gly921Ser p.G921S ENST00000375001 NM_001855.4 921 Ggt/Agt 0 -COL19A1 UCSF GRCh37 6 70608851 70608851 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 35 120 0 ENST00000322773.4:c.103C>T p.Pro35Ser p.P35S ENST00000322773 NM_001858.4 35 Cct/Tct 0 -COL19A1 UCSF GRCh37 6 70859755 70859755 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 100 154 1 ENST00000322773.4:c.1942C>T p.Leu648Phe p.L648F ENST00000322773 NM_001858.4 648 Ctc/Ttc 0 -COL1A1 UCSF GRCh37 17 48263779 48263779 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 91 170 0 ENST00000225964.5:c.3904C>T p.Pro1302Ser p.P1302S ENST00000225964 NM_000088.3 1302 Ccc/Tcc 0 -COL1A1 UCSF GRCh37 17 48270368 48270368 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 21 43 0 ENST00000225964.5:c.1808C>T p.Pro603Leu p.P603L ENST00000225964 NM_000088.3 603 cCc/cTc 0 -COL1A2 UCSF GRCh37 7 94052288 94052288 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 82 180 0 ENST00000297268.6:c.2423G>A p.Gly808Asp p.G808D ENST00000297268 NM_000089.3 808 gGt/gAt 0 -COL1A2 UCSF GRCh37 7 94054440 94054440 + synonymous_variant Silent SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 30 14 95 0 ENST00000297268.6:c.2685T>C p.Gly895= p.G895= ENST00000297268 NM_000089.3 895 ggT/ggC 0 -COL22A1 UCSF GRCh37 8 139838948 139838948 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 255 51 110 1 ENST00000303045.6:c.922G>A p.Glu308Lys p.E308K ENST00000303045 NM_152888.1 308 Gaa/Aaa 0 -COL22A1 UCSF GRCh37 8 139611048 139611048 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 158 37 112 0 ENST00000303045.6:c.4279C>T p.Leu1427= p.L1427= ENST00000303045 NM_152888.1 1427 Ctg/Ttg 0 -COL23A1 UCSF GRCh37 5 177669372 177669372 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 26 26 69 0 ENST00000390654.3:c.1464G>A p.Glu488= p.E488= ENST00000390654 NM_173465.3 488 gaG/gaA 0 -COL23A1 UCSF GRCh37 5 177690266 177690266 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 21 26 47 0 ENST00000390654.3:c.582C>T p.Ala194= p.A194= ENST00000390654 NM_173465.3 194 gcC/gcT 0 -COL24A1 UCSF GRCh37 1 86200550 86200550 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 76 174 0 ENST00000370571.2:c.4880G>A p.Arg1627Lys p.R1627K ENST00000370571 NM_152890.5 1627 aGg/aAg 0 -COL27A1 UCSF GRCh37 9 116930191 116930191 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 43 77 0 ENST00000356083.3:c.356G>A p.Ser119Asn p.S119N ENST00000356083 NM_032888.2 119 aGc/aAc 0 -COL28A1 UCSF GRCh37 7 7493129 7493129 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 61 145 0 ENST00000399429.3:c.1382G>A p.Gly461Asp p.G461D ENST00000399429 NM_001037763.2 461 gGt/gAt 0 -COL28A1 UCSF GRCh37 7 7572463 7572463 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 94 201 0 ENST00000399429.3:c.44C>T p.Ala15Val p.A15V ENST00000399429 NM_001037763.2 15 gCg/gTg 0 -COL2A1 UCSF GRCh37 12 48377895 48377895 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 7 23 0 ENST00000380518.3:c.1916G>A p.Gly639Asp p.G639D ENST00000380518 NM_033150.2 639 gGt/gAt 0 -COL3A1 UCSF GRCh37 2 189849927 189849927 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 58 154 0 ENST00000304636.3:c.287C>T p.Thr96Ile p.T96I ENST00000304636 NM_000090.3 96 aCt/aTt 0 -COL4A6 UCSF GRCh37 X 107408120 107408120 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 32 55 0 ENST00000372216.4:c.3960G>A p.Glu1320= p.E1320= ENST00000372216 NM_001847.2 1320 gaG/gaA 0 -COL6A3 UCSF GRCh37 2 238261999 238261999 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 26 22 65 0 ENST00000295550.4:c.6675G>A p.Gly2225= p.G2225= ENST00000295550 NM_004369.3 2225 ggG/ggA 0 -COL6A5 UCSF GRCh37 3 130159572 130159572 + synonymous_variant,NMD_transcript_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 85 213 0 ENST00000312481.7:c.6390C>T p.Tyr2130= p.Y2130= ENST00000312481 2130 taC/taT 0 -COL6A6 UCSF GRCh37 3 130293243 130293243 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 98 175 0 ENST00000358511.6:c.3421G>A p.Asp1141Asn p.D1141N ENST00000358511 NM_001102608.1 1141 Gat/Aat 0 -COL9A1 UCSF GRCh37 6 70972963 70972963 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 21 64 0 ENST00000357250.6:c.1379G>A p.Gly460Glu p.G460E ENST00000357250 NM_001851.4 460 gGa/gAa 0 -COLEC12 UCSF GRCh37 18 346738 346738 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 64 129 0 ENST00000400256.3:c.884G>A p.Gly295Asp p.G295D ENST00000400256 NM_130386.2 295 gGt/gAt 0 -COQ10B UCSF GRCh37 2 198334869 198334869 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 24 91 0 ENST00000263960.2:c.523C>T p.Pro175Ser p.P175S ENST00000263960 NM_025147.3 175 Cca/Tca 0 -COQ2 UCSF GRCh37 4 84205914 84205914 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 18 31 0 ENST00000311469.4:c.154C>T p.Leu52= p.L52= ENST00000311469 NM_015697.7 52 Ctg/Ttg 0 -CORO2A UCSF GRCh37 9 100897104 100897104 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 25 43 0 ENST00000343933.5:c.452C>T p.Ala151Val p.A151V ENST00000343933 NM_003389.3 151 gCt/gTt 0 -COX4I1 UCSF GRCh37 16 85840402 85840402 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 66 120 0 ENST00000253452.2:c.432G>A p.Arg144= p.R144= ENST00000253452 NM_001861.3 144 agG/agA 0 -CPAMD8 UCSF GRCh37 19 17014386 17014386 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0021 P10_Rec Untested WXS Illumina HiSeq 84 63 126 0 ENST00000443236.1:c.4596C>T p.Gly1532= p.G1532= ENST00000443236 NM_015692.2 1532 ggC/ggT 0 -CPNE4 UCSF GRCh37 3 131268852 131268852 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 67 141 0 ENST00000429747.1:c.1241C>T p.Ala414Val p.A414V ENST00000429747 NM_130808.1 414 gCc/gTc 0 -CPOX UCSF GRCh37 3 98311991 98311991 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 17 20 0 ENST00000264193.2:c.358G>A p.Glu120Lys p.E120K ENST00000264193 NM_000097.5 120 Gag/Aag 0 -CPPED1 UCSF GRCh37 16 12798798 12798798 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 57 103 0 ENST00000381774.4:c.398C>T p.Thr133Ile p.T133I ENST00000381774 NM_018340.2 133 aCc/aTc 0 -CPS1 UCSF GRCh37 2 211465437 211465437 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 75 191 0 ENST00000233072.5:c.1707+1G>A p.X569_splice ENST00000233072 NM_001875.4 0 -CPSF4 UCSF GRCh37 7 99051688 99051688 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 78 139 0 ENST00000292476.5:c.670G>A p.Val224Ile p.V224I ENST00000292476 224 Gtc/Atc 0 -CRAMP1L UCSF GRCh37 16 1706298 1706298 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 18 30 0 ENST00000293925.5:c.1540C>T p.Pro514Ser p.P514S ENST00000293925 NM_020825.3 514 Ccc/Tcc 0 -CRB2 UCSF GRCh37 9 126132611 126132611 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 31 80 0 ENST00000373631.3:c.1279C>T p.Pro427Ser p.P427S ENST00000373631 NM_173689.5 427 Cca/Tca 0 -CREB3 UCSF GRCh37 9 35736396 35736396 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 95 127 0 ENST00000353704.2:c.789C>T p.Ser263= p.S263= ENST00000353704 NM_006368.4 263 tcC/tcT 0 -CREB3L4 UCSF GRCh37 1 153941022 153941022 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 58 105 0 ENST00000271889.4:c.21C>T p.Asp7= p.D7= ENST00000271889 7 gaC/gaT 0 -CRISPLD1 UCSF GRCh37 8 75941713 75941713 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 34 119 0 ENST00000262207.4:c.1412C>T p.Thr471Ile p.T471I ENST00000262207 NM_031461.5 471 aCc/aTc 0 -CRTAM UCSF GRCh37 11 122726526 122726526 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 45 173 0 ENST00000227348.4:c.614G>A p.Gly205Glu p.G205E ENST00000227348 NM_019604.2 205 gGg/gAg 0 -CRTC2 UCSF GRCh37 1 153923901 153923901 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 19 35 0 ENST00000368633.1:c.1239C>T p.Ala413= p.A413= ENST00000368633 NM_181715.2 413 gcC/gcT 0 -CRTC3 UCSF GRCh37 15 91162994 91162994 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 37 116 0 ENST00000268184.6:c.721C>T p.Pro241Ser p.P241S ENST00000268184 241 Cct/Tct 0 -CRYM UCSF GRCh37 16 21286866 21286866 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 42 78 1 ENST00000219599.3:c.374C>T p.Ala125Val p.A125V ENST00000219599 NM_001888.3 125 gCc/gTc 0 -CRYZL1 UCSF GRCh37 21 34989027 34989027 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 64 134 0 ENST00000381554.3:c.247G>A p.Asp83Asn p.D83N ENST00000381554 NM_145858.2 83 Gat/Aat 0 -CSF1 UCSF GRCh37 1 110456983 110456983 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 40 83 0 ENST00000329608.6:c.142C>T p.Leu48= p.L48= ENST00000329608 NM_000757.5 48 Ctg/Ttg 0 -CSF3R UCSF GRCh37 1 36941258 36941258 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 25 65 0 ENST00000361632.4:c.81G>A p.Gly27= p.G27= ENST00000361632 27 ggG/ggA 0 -CSMD1 UCSF GRCh37 8 3566007 3566008 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 0 ENST00000537824.1:c.938dup p.Ala314GlyfsTer3 p.A314Gfs*3 ENST00000537824 NM_033225.5 313 aag/aAag 0 -CSMD2 UCSF GRCh37 1 34164377 34164377 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 72 129 0 ENST00000241312.4:c.3781G>A p.Asp1261Asn p.D1261N ENST00000241312 1261 Gac/Aac 0 -CSMD3 UCSF GRCh37 8 113275893 113275893 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 173 50 110 0 ENST00000297405.5:c.9837G>A p.Trp3279Ter p.W3279* ENST00000297405 NM_198123.1 3279 tgG/tgA 0 -CSNK1G1 UCSF GRCh37 15 64472608 64472608 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 51 102 0 ENST00000303052.7:c.1153G>A p.Gly385Arg p.G385R ENST00000303052 NM_022048.3 385 Gga/Aga 0 -CSPG4 UCSF GRCh37 15 75968078 75968078 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 50 81 0 ENST00000308508.5:c.6782C>T p.Thr2261Ile p.T2261I ENST00000308508 NM_001897.4 2261 aCt/aTt 0 -CST1 UCSF GRCh37 20 23731336 23731336 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 54 108 0 ENST00000304749.2:c.168C>T p.Asn56= p.N56= ENST00000304749 NM_001898.2 56 aaC/aaT 0 -CSTF3 UCSF GRCh37 11 33118465 33118465 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 58 154 0 ENST00000323959.4:c.1188G>A p.Met396Ile p.M396I ENST00000323959 NM_001326.2 396 atG/atA 0 -CTAG2 UCSF GRCh37 X 153880590 153880590 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 63 102 0 ENST00000247306.4:c.585G>A p.Gly195= p.G195= ENST00000247306 NM_020994.3 195 ggG/ggA 0 -CTAGE1 UCSF GRCh37 18 19996271 19996271 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 132 89 199 0 ENST00000391403.2:c.1504G>A p.Ala502Thr p.A502T ENST00000391403 NM_172241.2 502 Gct/Act 0 -CTAGE6P UCSF GRCh37 7 143453428 143453428 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 165 79 316 0 ENST00000470691.2:c.1324G>A p.Glu442Lys p.E442K ENST00000470691 NM_178561.4 442 Gaa/Aaa 0 -CTBP2 UCSF GRCh37 10 126716248 126716248 + intron_variant Intron SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 36 48 0 ENST00000337195.5:c.58+11318G>A *20* ENST00000337195 NM_001329.2 0 -CTC1 UCSF GRCh37 17 8138531 8138531 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 52 85 0 ENST00000315684.8:c.1279G>A p.Gly427Ser p.G427S ENST00000315684 NM_025099.5 427 Ggc/Agc 0 -CTNNA3 UCSF GRCh37 10 68940213 68940213 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 79 71 182 0 ENST00000433211.2:c.909C>T p.Arg303= p.R303= ENST00000433211 NM_013266.2 303 cgC/cgT 0 -CTPS2 UCSF GRCh37 X 16638419 16638419 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 85 203 0 ENST00000359276.4:c.1430G>A p.Arg477Lys p.R477K ENST00000359276 NM_175859.1 477 aGa/aAa 0 -CTSC UCSF GRCh37 11 88042421 88042421 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 34 121 0 ENST00000227266.5:c.551C>T p.Ser184Phe p.S184F ENST00000227266 NM_001814.4 184 tCt/tTt 0 -CTTNBP2 UCSF GRCh37 7 117364699 117364699 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 69 74 142 0 ENST00000160373.3:c.4349G>A p.Gly1450Glu p.G1450E ENST00000160373 NM_033427.2 1450 gGa/gAa 0 -CTTNBP2NL UCSF GRCh37 1 112999829 112999829 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 90 169 0 ENST00000271277.6:c.1715C>T p.Pro572Leu p.P572L ENST00000271277 NM_018704.2 572 cCc/cTc 0 -CTU2 UCSF GRCh37 16 88780121 88780121 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 73 108 0 ENST00000453996.2:c.940G>A p.Glu314Lys p.E314K ENST00000453996 NM_001012759.1 314 Gag/Aag 0 -CUBN UCSF GRCh37 10 17032352 17032352 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 197 65 178 0 ENST00000377833.4:c.4331G>A p.Cys1444Tyr p.C1444Y ENST00000377833 NM_001081.3 1444 tGc/tAc 0 -CUL2 UCSF GRCh37 10 35299354 35299354 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 53 111 0 ENST00000374748.1:c.2123G>A p.Arg708Lys p.R708K ENST00000374748 708 aGa/aAa 0 -CUL7 UCSF GRCh37 6 43017703 43017703 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 75 204 0 ENST00000265348.3:c.1567G>A p.Glu523Lys p.E523K ENST00000265348 523 Gag/Aag 0 -CUL7 UCSF GRCh37 6 43013324 43013324 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 46 73 0 ENST00000265348.3:c.2862+1G>A p.X954_splice ENST00000265348 0 -CUL9 UCSF GRCh37 6 43156415 43156415 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 54 97 0 ENST00000252050.4:c.2142G>A p.Glu714= p.E714= ENST00000252050 NM_015089.2 714 gaG/gaA 0 -CUX1 UCSF GRCh37 7 101882782 101882782 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 60 144 0 ENST00000292535.7:c.3805C>T p.Pro1269Ser p.P1269S ENST00000292535 NM_181552.3 1269 Ccg/Tcg 0 -CUX2 UCSF GRCh37 12 111760369 111760369 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 10 25 0 ENST00000261726.6:c.2911C>T p.Pro971Ser p.P971S ENST00000261726 NM_015267.3 971 Cct/Tct 0 -CXCL1 UCSF GRCh37 4 74735288 74735288 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 32 58 0 ENST00000395761.3:c.100+1G>A p.X34_splice ENST00000395761 NM_001511.3 0 -CXCR5 UCSF GRCh37 11 118764684 118764684 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 50 80 0 ENST00000292174.4:c.431C>T p.Ala144Val p.A144V ENST00000292174 NM_001716.4 144 gCc/gTc 0 -CXXC1 UCSF GRCh37 18 47812480 47812480 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 68 126 0 ENST00000285106.6:c.371C>T p.Ser124Leu p.S124L ENST00000285106 NM_001101654.1 124 tCa/tTa 0 -CYB561 UCSF GRCh37 17 61511818 61511818 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 16 25 0 ENST00000360793.3:c.701C>T p.Ala234Val p.A234V ENST00000360793 NM_001915.3 234 gCc/gTc 0 -CYB5D1 UCSF GRCh37 17 7761957 7761957 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 54 108 0 ENST00000332439.4:c.271C>T p.Leu91= p.L91= ENST00000332439 NM_144607.4 91 Ctg/Ttg 0 -CYBASC3 UCSF GRCh37 11 61121326 61121326 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 42 74 0 ENST00000294072.4:c.323G>A p.Gly108Glu p.G108E ENST00000294072 NM_153611.4 108 gGa/gAa 0 -CYFIP1 UCSF GRCh37 15 22993045 22993045 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 18 58 0 ENST00000313077.7:c.2932C>T p.His978Tyr p.H978Y ENST00000313077 NM_014608.2 978 Cac/Tac 0 -ZFTRAF1 UCSF GRCh37 8 145676143 145676143 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 8 16 0 ENST00000438911.2:c.708C>T p.Phe236= p.F236= ENST00000438911 NM_138496.1 236 ttC/ttT 0 -CYP1A2 UCSF GRCh37 15 75042111 75042111 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 101 205 0 ENST00000343932.4:c.32C>T p.Ala11Val p.A11V ENST00000343932 NM_000761.3 11 gCc/gTc 0 -CYP1A2 UCSF GRCh37 15 75042559 75042559 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 95 174 0 ENST00000343932.4:c.480C>T p.Tyr160= p.Y160= ENST00000343932 NM_000761.3 160 taC/taT 0 -CYP27C1 UCSF GRCh37 2 127961147 127961147 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 70 139 0 ENST00000335247.7:c.-22G>A p.X8_splice ENST00000335247 NM_001001665.3 0 -CYP2C19 UCSF GRCh37 10 96540357 96540357 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 89 229 0 ENST00000371321.3:c.583C>T p.Leu195Phe p.L195F ENST00000371321 NM_000769.1 195 Ctt/Ttt 0 -CYP2J2 UCSF GRCh37 1 60366771 60366771 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 46 127 0 ENST00000371204.3:c.1196C>T p.Thr399Ile p.T399I ENST00000371204 NM_000775.2 399 aCc/aTc 0 -CYP2S1 UCSF GRCh37 19 41703712 41703712 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 31 84 0 ENST00000310054.4:c.372G>A p.Trp124Ter p.W124* ENST00000310054 NM_030622.6 124 tgG/tgA 0 -CYP4F22 UCSF GRCh37 19 15636309 15636309 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 27 49 0 ENST00000269703.3:c.162C>T p.Arg54= p.R54= ENST00000269703 NM_173483.3 54 cgC/cgT 0 -CYTH1 UCSF GRCh37 17 76696430 76696430 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 22 51 0 ENST00000361101.4:c.533G>A p.Gly178Asp p.G178D ENST00000361101 NM_017456.2 178 gGc/gAc 0 -DAAM1 UCSF GRCh37 14 59821883 59821883 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 62 168 0 ENST00000395125.1:c.2387C>T p.Ala796Val p.A796V ENST00000395125 NM_014992.2 796 gCa/gTa 0 -DAB2 UCSF GRCh37 5 39382822 39382822 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 68 159 0 ENST00000320816.6:c.1239G>A p.Lys413= p.K413= ENST00000320816 NM_001343.3 413 aaG/aaA 0 -DACT1 UCSF GRCh37 14 59113147 59113147 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 20 29 0 ENST00000335867.4:c.1806G>A p.Arg602= p.R602= ENST00000335867 602 agG/agA 0 -DAGLA UCSF GRCh37 11 61505189 61505189 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 39 82 0 ENST00000257215.5:c.1545C>T p.Phe515= p.F515= ENST00000257215 NM_006133.2 515 ttC/ttT 0 -DAK UCSF GRCh37 11 61105600 61105600 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 42 61 0 ENST00000394900.3:c.191C>T p.Ala64Val p.A64V ENST00000394900 NM_015533.3 64 gCt/gTt 0 -DALRD3 UCSF GRCh37 3 49053920 49053920 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 1 41 86 0 ENST00000341949.4:c.1088G>A p.Gly363Asp p.G363D ENST00000341949 NM_001009996.2 363 gGt/gAt 0 -DAP3 UCSF GRCh37 1 155686916 155686916 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 87 187 1 ENST00000343043.3:c.165C>T p.Asp55= p.D55= ENST00000343043 NM_033657.2 55 gaC/gaT 0 -DAXX UCSF GRCh37 6 33289341 33289341 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 83 83 180 0 ENST00000266000.6:c.211C>T p.Leu71Phe p.L71F ENST00000266000 71 Ctt/Ttt 0 -DBC1 UCSF GRCh37 9 122075558 122075558 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 53 119 0 ENST00000265922.3:c.76G>A p.Glu26Lys p.E26K ENST00000265922 NM_014618.2 26 Gaa/Aaa 0 -DCAF4L1 UCSF GRCh37 4 41984755 41984755 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 75 149 0 ENST00000333141.5:c.946G>A p.Ala316Thr p.A316T ENST00000333141 NM_001029955.3 316 Gcc/Acc 0 -DCBLD2 UCSF GRCh37 3 98538238 98538238 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 58 158 0 ENST00000326840.6:c.895G>A p.Glu299Lys p.E299K ENST00000326840 NM_080927.3 299 Gag/Aag 0 -DCC UCSF GRCh37 18 50985745 50985745 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 99 211 0 ENST00000442544.2:c.3536C>T p.Pro1179Leu p.P1179L ENST00000442544 NM_005215.3 1179 cCc/cTc 0 -DCHS1 UCSF GRCh37 11 6662142 6662143 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P10_Rec Untested WXS Illumina HiSeq 8 0 ENST00000299441.3:c.703dup p.Arg235ProfsTer16 p.R235Pfs*16 ENST00000299441 NM_003737.2 234 -/C 0 -DCHS2 UCSF GRCh37 4 155156320 155156320 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 69 157 0 ENST00000357232.4:c.8119C>T p.Gln2707Ter p.Q2707* ENST00000357232 NM_017639.3 2707 Caa/Taa 0 -DCN UCSF GRCh37 12 91572319 91572319 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 77 137 0 ENST00000052754.5:c.11C>T p.Thr4Ile p.T4I ENST00000052754 NM_001920.3 4 aCt/aTt 0 -DCP1B UCSF GRCh37 12 2055379 2055379 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 44 111 0 ENST00000280665.6:c.1847C>T p.Thr616Ile p.T616I ENST00000280665 NM_152640.3 616 aCt/aTt 0 -DDAH1 UCSF GRCh37 1 85816190 85816190 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 94 213 0 ENST00000284031.8:c.505G>A p.Ala169Thr p.A169T ENST00000284031 NM_012137.3 169 Gca/Aca 0 -DDB2 UCSF GRCh37 11 47256340 47256340 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 67 122 0 ENST00000256996.4:c.735G>A p.Val245= p.V245= ENST00000256996 NM_000107.2 245 gtG/gtA 0 -DDR1 UCSF GRCh37 6 30862416 30862416 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 57 141 0 ENST00000324771.8:c.1481C>T p.Pro494Leu p.P494L ENST00000324771 494 cCc/cTc 0 -DDR1 UCSF GRCh37 6 30860850 30860850 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 39 80 0 ENST00000324771.8:c.1105G>A p.Val369Met p.V369M ENST00000324771 369 Gtg/Atg 0 -DDX11 UCSF GRCh37 12 31256518 31256518 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 62 78 0 ENST00000545668.1:c.2539C>T p.His847Tyr p.H847Y ENST00000545668 NM_001257144.1 847 Cat/Tat 0 -DDX11 UCSF GRCh37 12 31250914 31250914 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 114 18 131 0 ENST00000545668.1:c.1858G>A p.Gly620Arg p.G620R ENST00000545668 NM_001257144.1 620 Ggg/Agg 0 -DDX23 UCSF GRCh37 12 49230351 49230351 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 72 118 0 ENST00000308025.3:c.1236+1G>A p.X412_splice ENST00000308025 NM_004818.2 0 -DDX27 UCSF GRCh37 20 47836064 47836064 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 27 49 0 ENST00000371764.4:c.172G>A p.Asp58Asn p.D58N ENST00000371764 NM_017895.7 58 Gac/Aac 0 -DDX4 UCSF GRCh37 5 55063757 55063757 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 57 144 0 ENST00000505374.1:c.383C>T p.Ser128Phe p.S128F ENST00000505374 NM_024415.2 128 tCc/tTc 0 -DDX53 UCSF GRCh37 X 23018198 23018198 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 18 46 0 ENST00000327968.5:c.24G>A p.Trp8Ter p.W8* ENST00000327968 NM_182699.3 8 tgG/tgA 0 -DDX59 UCSF GRCh37 1 200635267 200635267 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 133 92 208 0 ENST00000331314.6:c.602C>T p.Pro201Leu p.P201L ENST00000331314 NM_001031725.4 201 cCc/cTc 0 -DDX6 UCSF GRCh37 11 118656891 118656891 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 136 119 231 0 ENST00000526070.2:c.70C>T p.Pro24Ser p.P24S ENST00000526070 NM_001257191.1 24 Cct/Tct 0 -DECR1 UCSF GRCh37 8 91054975 91054975 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 279 80 194 0 ENST00000220764.2:c.685G>A p.Gly229Ser p.G229S ENST00000220764 NM_001359.1 229 Ggt/Agt 0 -DEFB132 UCSF GRCh37 20 239761 239761 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 74 124 0 ENST00000382376.3:c.102C>T p.Tyr34= p.Y34= ENST00000382376 NM_207469.2 34 taC/taT 0 -DENND1B UCSF GRCh37 1 197510100 197510100 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 114 102 223 0 ENST00000391979.2:c.316C>T p.Leu106= p.L106= ENST00000391979 NM_001195215.1 106 Cta/Tta 0 -DENND2D UCSF GRCh37 1 111731408 111731408 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 81 128 0 ENST00000357640.4:c.1015G>A p.Val339Ile p.V339I ENST00000357640 NM_024901.4 339 Gtt/Att 0 -DEPDC5 UCSF GRCh37 22 32302255 32302255 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 3 68 96 0 ENST00000400246.1:c.4523G>A p.Gly1508Glu p.G1508E ENST00000400246 1508 gGa/gAa 0 -DEPDC5 UCSF GRCh37 22 32179972 32179972 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 80 181 0 ENST00000400246.1:c.562+1G>A p.X188_splice ENST00000400246 0 -DES UCSF GRCh37 2 220286152 220286152 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 62 108 0 ENST00000373960.3:c.1114G>A p.Glu372Lys p.E372K ENST00000373960 NM_001927.3 372 Gag/Aag 0 -DET1 UCSF GRCh37 15 89074632 89074632 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 114 194 0 ENST00000268148.8:c.305G>A p.Gly102Glu p.G102E ENST00000268148 NM_001144074.1 102 gGa/gAa 0 -DFNA5 UCSF GRCh37 7 24745895 24745895 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 37 69 0 ENST00000342947.3:c.1091G>A p.Gly364Glu p.G364E ENST00000342947 NM_004403.2 364 gGg/gAg 0 -DFNA5 UCSF GRCh37 7 24738789 24738789 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 43 96 0 ENST00000342947.3:c.1347G>A p.Gln449= p.Q449= ENST00000342947 NM_004403.2 449 caG/caA 0 -DFNB31 UCSF GRCh37 9 117170265 117170265 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 12 22 0 ENST00000362057.3:c.1660G>A p.Val554Ile p.V554I ENST00000362057 NM_001173425.1 554 Gtc/Atc 0 -DGCR14 UCSF GRCh37 22 19124860 19124860 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 131 78 156 0 ENST00000252137.6:c.1011C>T p.Asp337= p.D337= ENST00000252137 NM_022719.2 337 gaC/gaT 0 -DGCR8 UCSF GRCh37 22 20073698 20073698 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 63 116 1 ENST00000351989.3:c.212G>A p.Gly71Glu p.G71E ENST00000351989 NM_022720.6 71 gGa/gAa 0 -DHDDS UCSF GRCh37 1 26795537 26795537 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 64 115 0 ENST00000236342.7:c.917G>A p.Arg306Gln p.R306Q ENST00000236342 306 cGg/cAg 0 -DHDH UCSF GRCh37 19 49442716 49442716 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 80 182 0 ENST00000221403.2:c.377C>T p.Thr126Ile p.T126I ENST00000221403 NM_014475.3 126 aCc/aTc 0 -DHRS12 UCSF GRCh37 13 52373669 52373669 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 66 131 0 ENST00000444610.2:c.190+1G>A p.X64_splice ENST00000444610 NM_001270424.1 0 -DHX29 UCSF GRCh37 5 54579056 54579056 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 41 101 0 ENST00000251636.5:c.1940G>A p.Gly647Asp p.G647D ENST00000251636 NM_019030.2 647 gGc/gAc 0 -DIDO1 UCSF GRCh37 20 61513186 61513186 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 77 162 0 ENST00000266070.4:c.4122G>A p.Lys1374= p.K1374= ENST00000266070 NM_033081.2 1374 aaG/aaA 0 -DIO3 UCSF GRCh37 14 102028251 102028251 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 50 74 0 ENST00000510508.4:c.418G>A p.Val140Met p.V140M ENST00000510508 140 Gtg/Atg 0 -DIP2C UCSF GRCh37 10 323417 323417 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 119 52 114 0 ENST00000280886.6:c.4519C>T p.Leu1507= p.L1507= ENST00000280886 NM_014974.2 1507 Ctg/Ttg 0 -DLD UCSF GRCh37 7 107555952 107555952 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 55 127 0 ENST00000205402.5:c.686G>A p.Gly229Asp p.G229D ENST00000205402 NM_000108.3 229 gGt/gAt 0 -DLEC1 UCSF GRCh37 3 38126876 38126876 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 54 154 0 ENST00000308059.6:c.1373C>T p.Thr458Ile p.T458I ENST00000308059 458 aCc/aTc 0 -DLG4 UCSF GRCh37 17 7122158 7122158 + upstream_gene_variant 5'Flank SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 27 92 0 ENST00000399506 0 -DLG5 UCSF GRCh37 10 79567601 79567601 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 59 112 0 ENST00000372391.2:c.4749G>A p.Glu1583= p.E1583= ENST00000372391 NM_004747.3 1583 gaG/gaA 0 -DLL3 UCSF GRCh37 19 39998575 39998575 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 38 104 0 ENST00000205143.4:c.1779C>T p.Pro593= p.P593= ENST00000205143 NM_016941.3 593 ccC/ccT 0 -DMGDH UCSF GRCh37 5 78326661 78326661 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 42 88 0 ENST00000255189.3:c.1678C>T p.Pro560Ser p.P560S ENST00000255189 NM_013391.3 560 Cca/Tca 0 -DMRTA2 UCSF GRCh37 1 50885107 50885107 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 38 57 1 ENST00000404795.3:c.859G>A p.Glu287Lys p.E287K ENST00000404795 NM_032110.2 287 Gaa/Aaa 0 -DMXL2 UCSF GRCh37 15 51772750 51772750 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 116 89 181 0 ENST00000251076.5:c.6553G>A p.Glu2185Lys p.E2185K ENST00000251076 NM_015263.3 2185 Gaa/Aaa 0 -DMXL2 UCSF GRCh37 15 51860709 51860709 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 24 62 0 ENST00000251076.5:c.260G>A p.Gly87Asp p.G87D ENST00000251076 NM_015263.3 87 gGc/gAc 0 -DNAH10 UCSF GRCh37 12 124408889 124408889 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 82 151 0 ENST00000409039.3:c.11322G>A p.Trp3774Ter p.W3774* ENST00000409039 NM_207437.3 3774 tgG/tgA 0 -DNAH17 UCSF GRCh37 17 76420176 76420176 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 48 112 0 ENST00000389840.5:c.13269C>T p.Thr4423= p.T4423= ENST00000389840 4423 acC/acT 0 -DNAH17 UCSF GRCh37 17 76488815 76488815 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 52 129 0 ENST00000389840.5:c.6399C>T p.Asn2133= p.N2133= ENST00000389840 2133 aaC/aaT 0 -DNAH2 UCSF GRCh37 17 7700504 7700504 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 67 173 0 ENST00000389173.2:c.7874G>A p.Gly2625Asp p.G2625D ENST00000389173 NM_020877.2 2625 gGc/gAc 0 -DNAH5 UCSF GRCh37 5 13814842 13814842 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 59 149 0 ENST00000265104.4:c.7102C>T p.Pro2368Ser p.P2368S ENST00000265104 NM_001369.2 2368 Ccc/Tcc 0 -DNAH5 UCSF GRCh37 5 13714642 13714642 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 41 101 0 ENST00000265104.4:c.12997C>T p.Leu4333= p.L4333= ENST00000265104 NM_001369.2 4333 Ctg/Ttg 0 -DNAH7 UCSF GRCh37 2 196852860 196852860 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 55 151 0 ENST00000312428.6:c.1447G>A p.Glu483Lys p.E483K ENST00000312428 NM_018897.2 483 Gag/Aag 0 -DNAH7 UCSF GRCh37 2 196726495 196726495 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 48 139 0 ENST00000312428.6:c.7682C>T p.Thr2561Ile p.T2561I ENST00000312428 NM_018897.2 2561 aCc/aTc 0 -DNAH8 UCSF GRCh37 6 38994423 38994423 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 56 113 0 ENST00000359357.3:c.13165G>A p.Glu4389Lys p.E4389K ENST00000359357 4389 Gag/Aag 0 -DNAI1 UCSF GRCh37 9 34491538 34491538 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 39 51 103 0 ENST00000242317.4:c.667G>A p.Ala223Thr p.A223T ENST00000242317 NM_012144.3 223 Gcc/Acc 0 -DNAJC16 UCSF GRCh37 1 15855742 15855742 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 73 157 1 ENST00000375847.3:c.142G>A p.Ala48Thr p.A48T ENST00000375847 NM_015291.2 48 Gct/Act 0 -DNAJC17 UCSF GRCh37 15 41071767 41071767 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 44 76 0 ENST00000220496.4:c.183G>A p.Glu61= p.E61= ENST00000220496 NM_018163.2 61 gaG/gaA 0 -DNAJC19 UCSF GRCh37 3 180705975 180705975 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 66 177 1 ENST00000382564.2:c.46G>A p.Gly16Arg p.G16R ENST00000382564 NM_145261.3 16 Gga/Aga 0 -DNHD1 UCSF GRCh37 11 6524079 6524079 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 74 130 0 ENST00000254579.6:c.843G>A p.Met281Ile p.M281I ENST00000254579 NM_144666.2 281 atG/atA 0 -DNMT3A UCSF GRCh37 2 25458593 25458593 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 58 63 127 0 ENST00000264709.3:c.2580G>A p.Trp860Ter p.W860* ENST00000264709 NM_175629.2 860 tgG/tgA 0 -DNMT3A UCSF GRCh37 2 25470532 25470532 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 43 43 87 0 ENST00000264709.3:c.942G>A p.Trp314Ter p.W314* ENST00000264709 NM_175629.2 314 tgG/tgA 0 -DNMT3L UCSF GRCh37 21 45668988 45668988 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 13 27 0 ENST00000270172.3:c.916C>T p.Pro306Ser p.P306S ENST00000270172 NM_013369.3 306 Cca/Tca 0 -DOC2A UCSF GRCh37 16 30017765 30017765 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 72 135 0 ENST00000350119.4:c.1026C>T p.Asp342= p.D342= ENST00000350119 NM_003586.2 342 gaC/gaT 0 -DOCK10 UCSF GRCh37 2 225781483 225781483 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 63 133 0 ENST00000258390.7:c.262G>A p.Asp88Asn p.D88N ENST00000258390 NM_014689.2 88 Gat/Aat 0 -DOCK3 UCSF GRCh37 3 51378721 51378721 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 42 77 0 ENST00000266037.9:c.3820C>T p.Pro1274Ser p.P1274S ENST00000266037 NM_004947.4 1274 Cca/Tca 0 -DOCK7 UCSF GRCh37 1 62962166 62962166 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 42 129 0 ENST00000340370.5:c.4674C>T p.Asn1558= p.N1558= ENST00000340370 NM_033407.3 1558 aaC/aaT 0 -DOK2 UCSF GRCh37 8 21771109 21771109 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 56 145 0 ENST00000276420.4:c.4G>A p.Gly2Arg p.G2R ENST00000276420 NM_003974.2 2 Gga/Aga 0 -DOK7 UCSF GRCh37 4 3494641 3494641 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 16 12 0 ENST00000340083.5:c.928G>A p.Ala310Thr p.A310T ENST00000340083 NM_173660.4 310 Gcc/Acc 0 -DOLK UCSF GRCh37 9 131708637 131708637 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 197 84 168 0 ENST00000372586.3:c.946C>T p.Leu316= p.L316= ENST00000372586 NM_014908.3 316 Ctg/Ttg 0 -DOPEY1 UCSF GRCh37 6 83848015 83848015 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0014 P10_Rec Untested WXS Illumina HiSeq 110 110 266 0 ENST00000349129.2:c.4254C>T p.Leu1418= p.L1418= ENST00000349129 NM_015018.3 1418 ctC/ctT 0 -DOPEY2 UCSF GRCh37 21 37612210 37612210 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 15 23 0 ENST00000399151.3:c.3024C>T p.Thr1008= p.T1008= ENST00000399151 NM_005128.2 1008 acC/acT 0 -DPCD UCSF GRCh37 10 103368682 103368682 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 68 160 0 ENST00000370151.4:c.495C>T p.Thr165= p.T165= ENST00000370151 NM_015448.1 165 acC/acT 0 -DPF1 UCSF GRCh37 19 38714783 38714783 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 11 8 0 ENST00000420980.2:c.81G>A p.Lys27= p.K27= ENST00000420980 NM_004647.2 27 aaG/aaA 0 -DPF1 UCSF GRCh37 19 38713076 38713076 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 62 106 0 ENST00000420980.2:c.300C>T p.Tyr100= p.Y100= ENST00000420980 NM_004647.2 100 taC/taT 0 -DPF2 UCSF GRCh37 11 65113205 65113205 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 62 115 0 ENST00000528416.1:c.706G>A p.Glu236Lys p.E236K ENST00000528416 NM_006268.4 236 Gag/Aag 0 -DPH2 UCSF GRCh37 1 44438150 44438150 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 53 99 0 ENST00000255108.3:c.1409C>T p.Thr470Ile p.T470I ENST00000255108 NM_001384.4 470 aCa/aTa 0 -DPH5 UCSF GRCh37 1 101479318 101479318 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 78 178 0 ENST00000370109.3:c.317G>A p.Arg106Lys p.R106K ENST00000370109 NM_001077395.1 106 aGa/aAa 0 -DPYSL2 UCSF GRCh37 8 26513222 26513222 + stop_retained_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 49 87 0 ENST00000311151.5:c.1719G>A p.Ter573= p.*573= ENST00000311151 NM_001386.5 573 taG/taA 0 -DRD1 UCSF GRCh37 5 174869048 174869048 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 83 153 0 ENST00000393752.2:c.1055C>T p.Pro352Leu p.P352L ENST00000393752 NM_000794.3 352 cCt/cTt 0 -DRD3 UCSF GRCh37 3 113847651 113847651 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 115 117 218 0 ENST00000460779.1:c.1115G>A p.Gly372Asp p.G372D ENST00000460779 NM_001282563.1 372 gGc/gAc 0 -DSC3 UCSF GRCh37 18 28611002 28611002 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 33 116 0 ENST00000360428.4:c.291G>A p.Trp97Ter p.W97* ENST00000360428 NM_001941.3 97 tgG/tgA 0 -DSCAM UCSF GRCh37 21 41385166 41385166 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 48 88 0 ENST00000400454.1:c.5834C>T p.Pro1945Leu p.P1945L ENST00000400454 NM_001271534.1 1945 cCc/cTc 0 -DSCAM UCSF GRCh37 21 41452089 41452089 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 44 147 0 ENST00000400454.1:c.4410C>T p.Thr1470= p.T1470= ENST00000400454 NM_001271534.1 1470 acC/acT 0 -DSCAML1 UCSF GRCh37 11 117303857 117303857 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 26 49 0 ENST00000321322.6:c.5203C>T p.Leu1735= p.L1735= ENST00000321322 NM_020693.2 1735 Ctg/Ttg 0 -DSE UCSF GRCh37 6 116757597 116757597 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 92 181 0 ENST00000331677.3:c.1966C>T p.Pro656Ser p.P656S ENST00000331677 656 Ccc/Tcc 0 -DSEL UCSF GRCh37 18 65179666 65179666 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 58 145 0 ENST00000310045.7:c.2210G>A p.Arg737Lys p.R737K ENST00000310045 NM_032160.2 737 aGa/aAa 0 -DST UCSF GRCh37 6 56380398 56380398 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 92 146 0 ENST00000244364.6:c.10557G>A p.Gln3519= p.Q3519= ENST00000244364 NM_015548.4 3519 caG/caA 0 -DUOX2 UCSF GRCh37 15 45401797 45401797 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 49 145 0 ENST00000603300.1:c.1159G>A p.Val387Met p.V387M ENST00000603300 NM_014080.4 387 Gtg/Atg 0 -DUOX2 UCSF GRCh37 15 45392393 45392393 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 40 103 0 ENST00000603300.1:c.3039G>A p.Glu1013= p.E1013= ENST00000603300 NM_014080.4 1013 gaG/gaA 0 -DUPD1 UCSF GRCh37 10 76818240 76818240 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 44 104 0 ENST00000338487.5:c.33G>A p.Lys11= p.K11= ENST00000338487 NM_001003892.1 11 aaG/aaA 0 -DUSP11 UCSF GRCh37 2 74007117 74007117 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 51 86 0 ENST00000272444.3:c.126G>A p.Arg42= p.R42= ENST00000272444 NM_003584.2 42 cgG/cgA 0 -DYNC1I1 UCSF GRCh37 7 95705396 95705396 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 61 136 0 ENST00000324972.6:c.1588G>A p.Asp530Asn p.D530N ENST00000324972 NM_004411.4 530 Gac/Aac 0 -DYNC2H1 UCSF GRCh37 11 103006301 103006301 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 32 106 0 ENST00000375735.2:c.2283C>T p.Tyr761= p.Y761= ENST00000375735 NM_001080463.1 761 taC/taT 0 -DYRK1A UCSF GRCh37 21 38877737 38877737 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 103 217 0 ENST00000398960.2:c.1391C>T p.Pro464Leu p.P464L ENST00000398960 NM_001396.3 464 cCc/cTc 0 -DYRK1A UCSF GRCh37 21 38884582 38884582 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 76 181 0 ENST00000398960.2:c.2040C>T p.Tyr680= p.Y680= ENST00000398960 NM_001396.3 680 taC/taT 0 -DYSF UCSF GRCh37 2 71891506 71891506 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 44 81 0 ENST00000258104.3:c.4995C>T p.Asp1665= p.D1665= ENST00000258104 NM_003494.3 1665 gaC/gaT 0 -DYTN UCSF GRCh37 2 207557959 207557959 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 79 167 0 ENST00000452335.2:c.920G>A p.Arg307Lys p.R307K ENST00000452335 NM_001093730.1 307 aGa/aAa 0 -DZIP3 UCSF GRCh37 3 108335494 108335494 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 63 159 0 ENST00000361582.3:c.365G>A p.Gly122Asp p.G122D ENST00000361582 NM_014648.3 122 gGc/gAc 0 -E2F5 UCSF GRCh37 8 86119660 86119660 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 27 91 0 ENST00000416274.2:c.551G>A p.Gly184Asp p.G184D ENST00000416274 NM_001083588.1 184 gGt/gAt 0 -ECE1 UCSF GRCh37 1 21582624 21582624 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 34 86 0 ENST00000374893.6:c.836C>T p.Thr279Ile p.T279I ENST00000374893 NM_001397.2 279 aCc/aTc 0 -ECE1 UCSF GRCh37 1 21599352 21599352 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 49 87 0 ENST00000374893.6:c.333C>T p.Ile111= p.I111= ENST00000374893 NM_001397.2 111 atC/atT 0 -ECHDC1 UCSF GRCh37 6 127611073 127611073 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 104 111 237 0 ENST00000531967.1:c.865G>A p.Val289Ile p.V289I ENST00000531967 NM_001139510.1 289 Gtt/Att 0 -ECM2 UCSF GRCh37 9 95277190 95277190 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 150 60 131 0 ENST00000344604.5:c.777G>A p.Arg259= p.R259= ENST00000344604 NM_001393.3 259 agG/agA 0 -ECSCR UCSF GRCh37 5 138842242 138842242 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 8 14 0 ENST00000515823.1:c.14G>A p.Gly5Glu p.G5E ENST00000515823 NM_001077693.2 5 gGa/gAa 0 -EDF1 UCSF GRCh37 9 139760663 139760663 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 14 24 0 ENST00000224073.1:c.48C>T p.Gly16= p.G16= ENST00000224073 NM_001281298.1 16 ggC/ggT 0 -EDIL3 UCSF GRCh37 5 83356203 83356203 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 58 117 0 ENST00000296591.5:c.1053G>A p.Trp351Ter p.W351* ENST00000296591 NM_005711.4 351 tgG/tgA 0 -EDN3 UCSF GRCh37 20 57897444 57897445 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 0 ENST00000337938.2:c.565dup p.Thr189AsnfsTer10 p.T189Nfs*10 ENST00000337938 NM_207034.1 187 gaa/gaAa 0 -EEF1G UCSF GRCh37 11 62340136 62340136 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 83 181 0 ENST00000329251.4:c.91G>A p.Val31Met p.V31M ENST00000329251 NM_001404.4 31 Gtg/Atg 0 -EEPD1 UCSF GRCh37 7 36324420 36324420 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 55 98 0 ENST00000242108.4:c.1167G>A p.Gly389= p.G389= ENST00000242108 NM_030636.2 389 ggG/ggA 0 -EFHA1 UCSF GRCh37 13 22141047 22141047 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 2 37 94 0 ENST00000382374.4:c.247C>T p.Pro83Ser p.P83S ENST00000382374 NM_152726.2 83 Ccg/Tcg 0 -EFHC1 UCSF GRCh37 6 52317622 52317622 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 111 228 0 ENST00000371068.5:c.710C>T p.Thr237Ile p.T237I ENST00000371068 NM_018100.3 237 aCc/aTc 0 -EFNB3 UCSF GRCh37 17 7611322 7611322 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 53 111 0 ENST00000226091.2:c.169C>T p.Arg57Trp p.R57W ENST00000226091 NM_001406.3 57 Cgg/Tgg 0 -EFR3B UCSF GRCh37 2 25377127 25377127 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 56 108 0 ENST00000403714.3:c.2372C>T p.Thr791Ile p.T791I ENST00000403714 NM_014971.1 791 aCc/aTc 0 -EHD4 UCSF GRCh37 15 42201974 42201974 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 114 118 191 0 ENST00000220325.4:c.1012C>T p.Leu338= p.L338= ENST00000220325 NM_139265.3 338 Cta/Tta 0 -EHD4 UCSF GRCh37 15 42211800 42211800 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 40 66 0 ENST00000220325.4:c.532C>T p.Leu178= p.L178= ENST00000220325 NM_139265.3 178 Ctg/Ttg 0 -EID2B UCSF GRCh37 19 40023266 40023266 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 27 53 0 ENST00000326282.4:c.177G>A p.Arg59= p.R59= ENST00000326282 NM_152361.1 59 cgG/cgA 0 -EIF2B4 UCSF GRCh37 2 27591954 27591954 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 49 104 0 ENST00000347454.4:c.337G>A p.Ala113Thr p.A113T ENST00000347454 NM_015636.3 113 Gcc/Acc 0 -EIF2C2 UCSF GRCh37 8 141551327 141551327 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 87 18 41 0 ENST00000220592.5:c.1970C>T p.Thr657Met p.T657M ENST00000220592 NM_012154.3 657 aCg/aTg 0 -EIF2C2 UCSF GRCh37 8 141554325 141554325 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 355 89 149 0 ENST00000220592.5:c.1826C>T p.Pro609Leu p.P609L ENST00000220592 NM_012154.3 609 cCc/cTc 0 -EIF3H UCSF GRCh37 8 117671106 117671106 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 179 51 173 0 ENST00000521861.1:c.403G>A p.Asp135Asn p.D135N ENST00000521861 NM_003756.2 135 Gac/Aac 0 -EIF4G1 UCSF GRCh37 3 184039886 184039886 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 47 110 0 ENST00000346169.2:c.1514C>T p.Thr505Ile p.T505I ENST00000346169 NM_198241.2 505 aCt/aTt 0 -EIF5B UCSF GRCh37 2 99977841 99977841 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 105 198 0 ENST00000289371.6:c.477G>A p.Lys159= p.K159= ENST00000289371 NM_015904.3 159 aaG/aaA 0 -ELP3 UCSF GRCh37 8 27995380 27995380 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 43 97 0 ENST00000256398.8:c.1072C>T p.Pro358Ser p.P358S ENST00000256398 NM_018091.5 358 Cca/Tca 0 -EML5 UCSF GRCh37 14 89171891 89171891 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 82 77 140 0 ENST00000380664.5:c.1867C>T p.Leu623= p.L623= ENST00000380664 623 Ctg/Ttg 0 -ENDOV UCSF GRCh37 17 78389561 78389561 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 12 33 0 ENST00000518137.1:c.168G>A p.Val56= p.V56= ENST00000518137 NM_173627.3 56 gtG/gtA 0 -ENO1 UCSF GRCh37 1 8927255 8927255 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 67 174 0 ENST00000234590.4:c.365G>A p.Gly122Asp p.G122D ENST00000234590 NM_001428.3 122 gGt/gAt 0 -ENPEP UCSF GRCh37 4 111470765 111470765 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 109 81 176 0 ENST00000265162.5:c.2307G>A p.Glu769= p.E769= ENST00000265162 NM_001977.3 769 gaG/gaA 0 -EOMES UCSF GRCh37 3 27758589 27758589 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 91 192 0 ENST00000295743.4:c.2033G>A p.Gly678Glu p.G678E ENST00000295743 NM_005442.3 678 gGg/gAg 0 -EPAS1 UCSF GRCh37 2 46607851 46607851 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 57 132 0 ENST00000263734.3:c.2040G>A p.Lys680= p.K680= ENST00000263734 NM_001430.4 680 aaG/aaA 0 -EPB41L4B UCSF GRCh37 9 111965953 111965953 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 150 73 158 1 ENST00000374566.3:c.1936G>A p.Ala646Thr p.A646T ENST00000374566 NM_019114.3 646 Gct/Act 0 -EPC2 UCSF GRCh37 2 149402614 149402614 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 7 18 0 ENST00000258484.6:c.28G>A p.Ala10Thr p.A10T ENST00000258484 NM_015630.3 10 Gcg/Acg 0 -EPG5 UCSF GRCh37 18 43460146 43460146 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 47 80 0 ENST00000282041.5:c.5561C>T p.Thr1854Ile p.T1854I ENST00000282041 NM_020964.2 1854 aCt/aTt 0 -EPHA10 UCSF GRCh37 1 38184480 38184480 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 17 29 0 ENST00000373048.4:c.2765C>T p.Thr922Ile p.T922I ENST00000373048 NM_001099439.1 922 aCc/aTc 0 -EPHA10 UCSF GRCh37 1 38227159 38227159 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 7 77 0 ENST00000373048.4:c.768C>T p.Cys256= p.C256= ENST00000373048 NM_001099439.1 256 tgC/tgT 0 -EPHA4 UCSF GRCh37 2 222428779 222428779 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 85 189 0 ENST00000281821.2:c.495G>A p.Lys165= p.K165= ENST00000281821 NM_004438.3 165 aaG/aaA 0 -EPHA6 UCSF GRCh37 3 96945264 96945264 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 109 201 0 ENST00000389672.5:c.1270+1G>A p.X424_splice ENST00000389672 NM_001080448.2 0 -EPHA6 UCSF GRCh37 3 97198209 97198209 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 61 113 0 ENST00000389672.5:c.2074+1G>A p.X692_splice ENST00000389672 NM_001080448.2 0 -EPHA8 UCSF GRCh37 1 22923809 22923809 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 40 103 0 ENST00000166244.3:c.1770C>T p.Pro590= p.P590= ENST00000166244 NM_020526.3 590 ccC/ccT 0 -EPHB3 UCSF GRCh37 3 184290929 184290929 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 44 61 0 ENST00000330394.2:c.821G>A p.Gly274Asp p.G274D ENST00000330394 NM_004443.3 274 gGc/gAc 0 -EPHB4 UCSF GRCh37 7 100401105 100401105 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 12 21 0 ENST00000358173.3:c.2942G>A p.Gly981Glu p.G981E ENST00000358173 NM_004444.4 981 gGa/gAa 0 -EPN1 UCSF GRCh37 19 56204063 56204063 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 12 40 0 ENST00000270460.6:c.1078G>A p.Val360Ile p.V360I ENST00000270460 NM_001130072.1 360 Gtc/Atc 0 -EPPK1 UCSF GRCh37 8 144945735 144945735 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 19 23 0 ENST00000525985.1:c.1687C>T p.Leu563= p.L563= ENST00000525985 NM_031308.2 563 Ctg/Ttg 0 -ERAP2 UCSF GRCh37 5 96232164 96232164 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 68 145 0 ENST00000437043.3:c.1327C>T p.Pro443Ser p.P443S ENST00000437043 NM_001130140.1 443 Ccg/Tcg 0 -ERBB2IP UCSF GRCh37 5 65349627 65349627 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 47 111 0 ENST00000284037.5:c.2481G>A p.Glu827= p.E827= ENST00000284037 NM_001253697.1 827 gaG/gaA 0 -ERBB3 UCSF GRCh37 12 56490602 56490602 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 77 129 0 ENST00000267101.3:c.2246G>A p.Gly749Glu p.G749E ENST00000267101 NM_001982.3 749 gGa/gAa 0 -ERBB4 UCSF GRCh37 2 212589815 212589815 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 61 137 0 ENST00000342788.4:c.727G>A p.Asp243Asn p.D243N ENST00000342788 NM_005235.2 243 Gac/Aac 0 -ERCC1 UCSF GRCh37 19 45923624 45923624 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 19 54 0 ENST00000300853.3:c.383C>T p.Pro128Leu p.P128L ENST00000300853 NM_001983.3 128 cCc/cTc 0 -ERF UCSF GRCh37 19 42754626 42754626 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 46 89 0 ENST00000222329.4:c.114G>A p.Arg38= p.R38= ENST00000222329 NM_006494.2 38 cgG/cgA 0 -ERF UCSF GRCh37 19 42753580 42753580 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 19 25 0 ENST00000222329.4:c.684C>T p.Asp228= p.D228= ENST00000222329 NM_006494.2 228 gaC/gaT 0 -ERG UCSF GRCh37 21 39763610 39763610 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 41 118 0 ENST00000398919.2:c.863C>T p.Pro288Leu p.P288L ENST00000398919 NM_001243428.1 288 cCc/cTc 0 -ERICH1 UCSF GRCh37 8 623456 623456 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 97 164 0 ENST00000262109.7:c.896C>T p.Ala299Val p.A299V ENST00000262109 NM_207332.1 299 gCg/gTg 0 -ERMAP UCSF GRCh37 1 43300733 43300733 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 67 154 0 ENST00000372514.3:c.458C>T p.Pro153Leu p.P153L ENST00000372514 NM_018538.3 153 cCc/cTc 0 -ERN2 UCSF GRCh37 16 23714018 23714018 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0022 P10_Rec Untested WXS Illumina HiSeq 69 63 125 0 ENST00000256797.4:c.1004C>T p.Thr335Met p.T335M ENST00000256797 NM_033266.3 335 aCg/aTg 0 -ESD UCSF GRCh37 13 47356811 47356811 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 4 74 188 0 ENST00000378720.3:c.372C>T p.Val124= p.V124= ENST00000378720 NM_001984.1 124 gtC/gtT 0 -ESPL1 UCSF GRCh37 12 53680219 53680219 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 109 69 184 0 ENST00000257934.4:c.3699G>A p.Glu1233= p.E1233= ENST00000257934 NM_012291.4 1233 gaG/gaA 0 -ESPN UCSF GRCh37 1 6488326 6488326 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 69 105 0 ENST00000377828.1:c.335C>T p.Ala112Val p.A112V ENST00000377828 NM_031475.2 112 gCc/gTc 0 -ESPN UCSF GRCh37 1 6512025 6512025 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 22 31 0 ENST00000377828.1:c.2194G>A p.Val732Met p.V732M ENST00000377828 NM_031475.2 732 Gtg/Atg 0 -ESR1 UCSF GRCh37 6 152265335 152265335 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 76 120 0 ENST00000206249.3:c.788G>A p.Arg263Lys p.R263K ENST00000206249 NM_000125.3 263 aGa/aAa 0 -ESR1 UCSF GRCh37 6 152265501 152265501 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 94 189 0 ENST00000206249.3:c.954C>T p.Ala318= p.A318= ENST00000206249 NM_000125.3 318 gcC/gcT 0 -ETAA1 UCSF GRCh37 2 67632437 67632437 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 46 111 0 ENST00000272342.5:c.2623C>T p.Leu875Phe p.L875F ENST00000272342 NM_019002.3 875 Ctt/Ttt 0 -ETFB UCSF GRCh37 19 51853620 51853620 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 10 45 0 ENST00000309244.4:c.401C>T p.Thr134Ile p.T134I ENST00000309244 NM_001985.2 134 aCa/aTa 0 -ETFDH UCSF GRCh37 4 159606372 159606372 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 84 172 0 ENST00000511912.1:c.606+1G>A p.X202_splice ENST00000511912 NM_004453.2 0 -ETS1 UCSF GRCh37 11 128354799 128354799 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 79 187 0 ENST00000319397.6:c.649G>A p.Asp217Asn p.D217N ENST00000319397 NM_005238.3 217 Gac/Aac 0 -ETS1 UCSF GRCh37 11 128350152 128350152 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 28 76 0 ENST00000319397.6:c.925C>T p.Arg309Trp p.R309W ENST00000319397 NM_005238.3 309 Cgg/Tgg 0 -ETV6 UCSF GRCh37 12 12022684 12022684 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 69 148 0 ENST00000396373.4:c.790C>T p.Arg264Cys p.R264C ENST00000396373 NM_001987.4 264 Cgc/Tgc 0 -EVC UCSF GRCh37 4 5785446 5785446 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 44 94 0 ENST00000264956.6:c.1731G>A p.Arg577= p.R577= ENST00000264956 NM_153717.2 577 agG/agA 0 -EVC2 UCSF GRCh37 4 5624454 5624454 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 48 90 0 ENST00000344408.5:c.2311C>T p.Leu771Phe p.L771F ENST00000344408 NM_147127.4 771 Ctc/Ttc 0 -EVI5 UCSF GRCh37 1 93167697 93167697 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 26 30 57 0 ENST00000370331.1:c.771+1G>A p.X257_splice ENST00000370331 NM_005665.4 0 -EVPL UCSF GRCh37 17 74019607 74019607 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 47 79 0 ENST00000301607.3:c.327C>T p.His109= p.H109= ENST00000301607 NM_001988.2 109 caC/caT 0 -EXOC4 UCSF GRCh37 7 132959927 132959927 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 55 122 0 ENST00000253861.4:c.276+1G>A p.X92_splice ENST00000253861 NM_021807.3 0 -EXOSC4 UCSF GRCh37 8 145135346 145135346 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 210 33 97 0 ENST00000316052.5:c.580G>A p.Gly194Arg p.G194R ENST00000316052 NM_019037.2 194 Gga/Aga 0 -EXT1 UCSF GRCh37 8 119122868 119122868 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 266 88 180 0 ENST00000378204.2:c.418G>A p.Gly140Ser p.G140S ENST00000378204 NM_000127.2 140 Ggc/Agc 0 -EYA2 UCSF GRCh37 20 45801378 45801378 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 63 127 0 ENST00000327619.5:c.1061G>A p.Gly354Asp p.G354D ENST00000327619 NM_005244.4 354 gGc/gAc 0 -F11 UCSF GRCh37 4 187205281 187205281 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 56 149 0 ENST00000403665.2:c.1171G>A p.Gly391Arg p.G391R ENST00000403665 NM_000128.3 391 Gga/Aga 0 -F8 UCSF GRCh37 X 154066018 154066018 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 35 80 0 ENST00000360256.4:c.6910G>A p.Gly2304Arg p.G2304R ENST00000360256 NM_000132.3 2304 Gga/Aga 0 -FADS2 UCSF GRCh37 11 61624933 61624933 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 77 97 0 ENST00000278840.4:c.813G>A p.Pro271= p.P271= ENST00000278840 NM_004265.3 271 ccG/ccA 0 -FAHD2B UCSF GRCh37 2 97750012 97750012 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 47 85 0 ENST00000272610.3:c.688C>T p.Pro230Ser p.P230S ENST00000272610 NM_199336.1 230 Cca/Tca 0 -EEIG1 UCSF GRCh37 9 130716147 130716147 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 125 52 103 0 ENST00000373095.1:c.204G>A p.Lys68= p.K68= ENST00000373095 NM_001035254.2 68 aaG/aaA 0 -FAM110A UCSF GRCh37 20 826100 826100 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 23 34 0 ENST00000246100.3:c.653G>A p.Gly218Glu p.G218E ENST00000246100 NM_207121.3 218 gGg/gAg 0 -FAM111A UCSF GRCh37 11 58920368 58920368 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 118 97 195 0 ENST00000361723.3:c.1227G>A p.Arg409= p.R409= ENST00000361723 NM_198847.2 409 agG/agA 0 -FAM129B UCSF GRCh37 9 130269465 130269465 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 20 30 0 ENST00000373312.3:c.1900C>T p.Pro634Ser p.P634S ENST00000373312 NM_022833.2 634 Ccc/Tcc 0 -FAM129B UCSF GRCh37 9 130289497 130289497 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 34 55 0 ENST00000373312.3:c.291G>A p.Gly97= p.G97= ENST00000373312 NM_022833.2 97 ggG/ggA 0 -FAM135A UCSF GRCh37 6 71235693 71235693 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 55 114 0 ENST00000370479.3:c.2267C>T p.Ser756Leu p.S756L ENST00000370479 756 tCa/tTa 0 -FAM13A UCSF GRCh37 4 89912297 89912297 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 46 91 0 ENST00000264344.5:c.432C>T p.Gly144= p.G144= ENST00000264344 NM_014883.3 144 ggC/ggT 0 -FAM149A UCSF GRCh37 4 187075793 187075793 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 40 98 0 ENST00000356371.5:c.1256+1G>A p.X419_splice ENST00000356371 0 -FAM150A UCSF GRCh37 8 53451020 53451020 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 31 85 0 ENST00000358543.4:c.373C>T p.Leu125= p.L125= ENST00000358543 NM_207413.3 125 Ctg/Ttg 0 -FAM163A UCSF GRCh37 1 179783118 179783118 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 36 85 0 ENST00000341785.4:c.298C>T p.Pro100Ser p.P100S ENST00000341785 NM_173509.2 100 Cca/Tca 0 -FAM171B UCSF GRCh37 2 187626962 187626962 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 81 213 0 ENST00000304698.5:c.1893C>T p.Val631= p.V631= ENST00000304698 NM_177454.3 631 gtC/gtT 0 -FAM177A1 UCSF GRCh37 14 35515722 35515722 + 5_prime_UTR_variant 5'UTR SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 9 19 0 ENST00000382406.3:c.-17C>T *6* ENST00000382406 0 -FAM178A UCSF GRCh37 10 102672943 102672943 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 14 29 0 ENST00000238961.4:c.76C>T p.His26Tyr p.H26Y ENST00000238961 NM_018121.3 26 Cat/Tat 0 -FAM179A UCSF GRCh37 2 29274931 29274931 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 46 125 0 ENST00000379558.4:c.3032G>A p.Gly1011Asp p.G1011D ENST00000379558 NM_199280.2 1011 gGc/gAc 0 -FAM196A UCSF GRCh37 10 128973748 128973748 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 54 88 0 ENST00000522781.1:c.912C>T p.Ala304= p.A304= ENST00000522781 NM_001039762.2 304 gcC/gcT 0 -FAM199X UCSF GRCh37 X 103432806 103432806 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 139 114 222 0 ENST00000493442.1:c.815C>T p.Thr272Ile p.T272I ENST00000493442 NM_207318.3 272 aCc/aTc 0 -FAM19A2 UCSF GRCh37 12 62148678 62148678 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0015 P10_Rec Untested WXS Illumina HiSeq 56 40 100 0 ENST00000416284.3:c.234G>A p.Thr78= p.T78= ENST00000416284 NM_178539.4 78 acG/acA 0 -SPATA31F1 UCSF GRCh37 9 34724598 34724598 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 78 181 0 ENST00000378788.3:c.2639C>T p.Pro880Leu p.P880L ENST00000378788 NM_001141917.1 880 cCc/cTc 0 -SPATA31F1 UCSF GRCh37 9 34726559 34726559 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 86 172 0 ENST00000378788.3:c.678G>A p.Glu226= p.E226= ENST00000378788 NM_001141917.1 226 gaG/gaA 0 -FAM208B UCSF GRCh37 10 5772512 5772512 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 143 61 151 0 ENST00000328090.5:c.550C>T p.Leu184Phe p.L184F ENST00000328090 NM_017782.4 184 Ctt/Ttt 0 -FAM208B UCSF GRCh37 10 5804588 5804588 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 170 78 182 0 ENST00000328090.5:c.7268C>T p.Ala2423Val p.A2423V ENST00000328090 NM_017782.4 2423 gCt/gTt 0 -FAM208B UCSF GRCh37 10 5790701 5790701 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 55 129 0 ENST00000328090.5:c.5317G>A p.Ala1773Thr p.A1773T ENST00000328090 NM_017782.4 1773 Gcc/Acc 0 -FAM21A UCSF GRCh37 10 51885899 51885899 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 21 140 0 ENST00000282633.5:c.2771G>A p.Gly924Asp p.G924D ENST00000282633 NM_001005751.1 924 gGt/gAt 0 -FAM22F UCSF GRCh37 9 97081362 97081362 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 71 76 0 ENST00000253262.4:c.1656C>T p.Pro552= p.P552= ENST00000253262 NM_017561.1 552 ccC/ccT 0 -FAM22G UCSF GRCh37 9 99701214 99701214 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 51 140 0 ENST00000372322.3:c.2009G>A p.Gly670Asp p.G670D ENST00000372322 NM_001170741.1 670 gGc/gAc 0 -FAM46A UCSF GRCh37 6 82459934 82459934 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 63 145 0 ENST00000320172.6:c.807G>A p.Gln269= p.Q269= ENST00000320172 NM_017633.2 269 caG/caA 0 -FAM49A UCSF GRCh37 2 16769397 16769397 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 60 127 0 ENST00000381323.3:c.-10G>A p.X4_splice ENST00000381323 NM_030797.3 0 -FAM65B UCSF GRCh37 6 24869322 24869322 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 89 156 0 ENST00000259698.4:c.414G>A p.Lys138= p.K138= ENST00000259698 NM_014722.2 138 aaG/aaA 0 -FAM70A UCSF GRCh37 X 119410813 119410813 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 88 184 0 ENST00000309720.5:c.674C>T p.Ala225Val p.A225V ENST00000309720 NM_017938.3 225 gCc/gTc 0 -FAM75C2 UCSF GRCh37 9 90746733 90746733 + non_coding_transcript_exon_variant RNA SNP C C G NOVEL P10_Rec Untested WXS Illumina HiSeq 131 259 267 1 ENST00000428649.2:n.1248G>C *416* ENST00000428649 0 -FAM84A UCSF GRCh37 2 14774305 14774305 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 24 43 0 ENST00000295092.2:c.202C>T p.Pro68Ser p.P68S ENST00000295092 NM_145175.2 68 Ccc/Tcc 0 -FANCC UCSF GRCh37 9 97869483 97869483 + synonymous_variant Silent SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 59 22 49 0 ENST00000289081.3:c.1398C>T p.Asp466= p.D466= ENST00000289081 NM_000136.2 466 gaC/gaT 0 -FANCG UCSF GRCh37 9 35079448 35079448 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 43 67 0 ENST00000378643.3:c.74G>A p.Arg25Gln p.R25Q ENST00000378643 NM_004629.1 25 cGa/cAa 0 -FANCI UCSF GRCh37 15 89843080 89843080 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 74 156 0 ENST00000310775.7:c.2686G>A p.Gly896Arg p.G896R ENST00000310775 NM_001113378.1 896 Gga/Aga 0 -FASN UCSF GRCh37 17 80045069 80045069 + missense_variant Missense_Mutation SNP G G A snp132_rs4363911 P10_Rec somatic WXS Sanger Illumina HiSeq 16 11 12 0 ENST00000306749.2:c.3284C>T p.Ser1095Phe p.S1095F ENST00000306749 NM_004104.4 1095 tCc/tTc 0 -FBN2 UCSF GRCh37 5 127653923 127653923 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 94 202 0 ENST00000262464.4:c.4635C>T p.Gly1545= p.G1545= ENST00000262464 NM_001999.3 1545 ggC/ggT 0 -FBN3 UCSF GRCh37 19 8150343 8150343 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 13 7 15 0 ENST00000270509.2:c.6991G>A p.Gly2331Ser p.G2331S ENST00000270509 NM_032447.3 2331 Ggc/Agc 0 -FBN3 UCSF GRCh37 19 8159401 8159401 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 24 49 0 ENST00000270509.2:c.5834G>A p.Cys1945Tyr p.C1945Y ENST00000270509 NM_032447.3 1945 tGc/tAc 0 -FBN3 UCSF GRCh37 19 8160940 8160940 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 45 101 0 ENST00000270509.2:c.5564C>T p.Pro1855Leu p.P1855L ENST00000270509 NM_032447.3 1855 cCt/cTt 0 -FBN3 UCSF GRCh37 19 8130812 8130812 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 29 79 0 ENST00000270509.2:c.8421G>A p.Gln2807= p.Q2807= ENST00000270509 NM_032447.3 2807 caG/caA 0 -FBXL19 UCSF GRCh37 16 30958069 30958069 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 17 39 0 ENST00000380310.2:c.1706G>A p.Gly569Asp p.G569D ENST00000380310 NM_001099784.2 569 gGt/gAt 0 -FBXL22 UCSF GRCh37 15 63889795 63889795 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 39 89 0 ENST00000360587.2:c.204C>T p.Gly68= p.G68= ENST00000360587 NM_203373.2 68 ggC/ggT 0 -FBXL5 UCSF GRCh37 4 15640227 15640227 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 50 128 0 ENST00000341285.3:c.487G>A p.Asp163Asn p.D163N ENST00000341285 NM_001193534.1 163 Gat/Aat 0 -FBXL6 UCSF GRCh37 8 145581850 145581850 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 4 12 0 ENST00000331890.5:c.258G>A p.Arg86= p.R86= ENST00000331890 NM_012162.3 86 agG/agA 0 -FBXO18 UCSF GRCh37 10 5957475 5957475 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 116 48 90 0 ENST00000362091.4:c.1506C>T p.Phe502= p.F502= ENST00000362091 NM_001258453.1 502 ttC/ttT 0 -FBXO24 UCSF GRCh37 7 100193252 100193252 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 70 120 0 ENST00000241071.6:c.1129C>T p.Arg377Ter p.R377* ENST00000241071 NM_033506.2 377 Cga/Tga 0 -FBXO34 UCSF GRCh37 14 55817500 55817500 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 54 143 0 ENST00000313833.4:c.392G>A p.Arg131Lys p.R131K ENST00000313833 NM_017943.3 131 aGg/aAg 0 -FBXO38 UCSF GRCh37 5 147774451 147774451 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 117 84 220 0 ENST00000340253.5:c.112C>T p.Leu38Phe p.L38F ENST00000340253 NM_030793.4 38 Ctt/Ttt 0 -FBXO39 UCSF GRCh37 17 6690267 6690267 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 69 153 0 ENST00000321535.4:c.1192G>A p.Val398Ile p.V398I ENST00000321535 NM_153230.2 398 Gta/Ata 0 -FBXO40 UCSF GRCh37 3 121341947 121341947 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 70 188 0 ENST00000338040.4:c.1671G>A p.Arg557= p.R557= ENST00000338040 NM_016298.3 557 agG/agA 0 -FCGR1A UCSF GRCh37 1 149755806 149755806 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 74 206 0 ENST00000369168.4:c.300C>T p.Ile100= p.I100= ENST00000369168 NM_000566.3 100 atC/atT 0 -FCHSD1 UCSF GRCh37 5 141026182 141026182 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 30 71 0 ENST00000435817.2:c.1032C>T p.Asn344= p.N344= ENST00000435817 NM_033449.2 344 aaC/aaT 0 -FCN1 UCSF GRCh37 9 137809617 137809617 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 43 80 0 ENST00000371806.3:c.101C>T p.Pro34Leu p.P34L ENST00000371806 NM_002003.3 34 cCa/cTa 0 -FDPS UCSF GRCh37 1 155289672 155289672 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 82 77 139 0 ENST00000356657.6:c.1012G>A p.Val338Ile p.V338I ENST00000356657 NM_001135821.1 338 Gtt/Att 0 -FECH UCSF GRCh37 18 55218022 55218022 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 43 100 0 ENST00000262093.5:c.1194G>A p.Gln398= p.Q398= ENST00000262093 NM_000140.3 398 caG/caA 0 -FER1L5 UCSF GRCh37 2 97370003 97370003 + downstream_gene_variant 3'Flank SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 97 223 0 ENST00000377079 NM_001142292.1 0 -FER1L6 UCSF GRCh37 8 124978277 124978277 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 98 34 84 0 ENST00000399018.1:c.228G>A p.Gly76= p.G76= ENST00000399018 76 ggG/ggA 0 -FERMT1 UCSF GRCh37 20 6060213 6060213 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 53 139 0 ENST00000217289.4:c.1730G>A p.Ser577Asn p.S577N ENST00000217289 NM_017671.4 577 aGc/aAc 0 -FERMT3 UCSF GRCh37 11 63978260 63978260 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 74 100 0 ENST00000279227.5:c.338G>A p.Arg113His p.R113H ENST00000279227 NM_178443.2 113 cGt/cAt 0 -FERMT3 UCSF GRCh37 11 63988578 63988578 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 34 81 0 ENST00000279227.5:c.1648C>T p.Leu550= p.L550= ENST00000279227 NM_178443.2 550 Ctg/Ttg 0 -FFAR3 UCSF GRCh37 19 35849937 35849937 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 216 68 308 0 ENST00000327809.4:c.145G>A p.Ala49Thr p.A49T ENST00000327809 NM_005304.3 49 Gcc/Acc 0 -FGD2 UCSF GRCh37 6 36995292 36995292 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 78 101 0 ENST00000274963.8:c.1693G>A p.Gly565Ser p.G565S ENST00000274963 NM_173558.3 565 Ggc/Agc 0 -FGF12 UCSF GRCh37 3 192125961 192125961 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 24 56 0 ENST00000454309.2:c.52G>A p.Glu18Lys p.E18K ENST00000454309 NM_021032.4 18 Gag/Aag 0 -FGF3 UCSF GRCh37 11 69631120 69631120 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 50 98 0 ENST00000334134.2:c.292G>A p.Ala98Thr p.A98T ENST00000334134 NM_005247.2 98 Gcc/Acc 0 -FGF5 UCSF GRCh37 4 81188231 81188231 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 36 104 0 ENST00000312465.7:c.253G>A p.Gly85Arg p.G85R ENST00000312465 NM_004464.3 85 Ggg/Agg 0 -FGFR1 UCSF GRCh37 8 38271242 38271242 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 14 28 0 ENST00000447712.2:c.2373G>A p.Gly791= p.G791= ENST00000447712 NM_001174063.1 791 ggG/ggA 0 -FGFR3 UCSF GRCh37 4 1807330 1807330 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 44 104 0 ENST00000260795.2:c.1579G>A p.Glu527Lys p.E527K ENST00000260795 527 Gag/Aag 0 -FHL1 UCSF GRCh37 X 135290032 135290032 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 65 130 0 ENST00000345434.3:c.413C>T p.Thr138Ile p.T138I ENST00000345434 138 aCt/aTt 0 -FLG UCSF GRCh37 1 152285468 152285468 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 157 133 267 0 ENST00000368799.1:c.1894G>A p.Glu632Lys p.E632K ENST00000368799 NM_002016.1 632 Gaa/Aaa 0 -FLG UCSF GRCh37 1 152280068 152280068 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 122 115 214 0 ENST00000368799.1:c.7294G>A p.Gly2432Arg p.G2432R ENST00000368799 NM_002016.1 2432 Ggg/Agg 0 -FLG2 UCSF GRCh37 1 152323669 152323669 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 155 143 235 0 ENST00000388718.5:c.6593G>A p.Gly2198Glu p.G2198E ENST00000388718 NM_001014342.2 2198 gGa/gAa 0 -FLJ43860 UCSF GRCh37 8 142446962 142446962 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 9 19 0 ENST00000606664.1:n.2318C>T *773* ENST00000606664 0 -FLNA UCSF GRCh37 X 153592985 153592985 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 46 84 0 ENST00000369850.3:c.1931C>T p.Ala644Val p.A644V ENST00000369850 NM_001110556.1 644 gCc/gTc 0 -FLNB UCSF GRCh37 3 58149045 58149045 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 5 35 80 0 ENST00000295956.4:c.7186G>A p.Gly2396Arg p.G2396R ENST00000295956 NM_001457.3 2396 Ggg/Agg 0 -FLNC UCSF GRCh37 7 128482991 128482991 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 21 60 0 ENST00000325888.8:c.2533G>A p.Val845Met p.V845M ENST00000325888 NM_001458.4 845 Gtg/Atg 0 -FLRT2 UCSF GRCh37 14 86088382 86088382 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 70 124 0 ENST00000330753.4:c.524C>T p.Pro175Leu p.P175L ENST00000330753 NM_013231.4 175 cCt/cTt 0 -FLT1 UCSF GRCh37 13 28880854 28880854 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 33 93 0 ENST00000282397.4:c.3776C>T p.Thr1259Ile p.T1259I ENST00000282397 NM_002019.4 1259 aCc/aTc 0 -FLT4 UCSF GRCh37 5 180053249 180053249 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 39 90 0 ENST00000261937.6:c.1120G>A p.Ala374Thr p.A374T ENST00000261937 NM_182925.4 374 Gca/Aca 0 -FLVCR1 UCSF GRCh37 1 213061276 213061276 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 41 100 0 ENST00000366971.4:c.1240G>A p.Val414Ile p.V414I ENST00000366971 NM_014053.3 414 Gtt/Att 0 -FLVCR2 UCSF GRCh37 14 76101342 76101342 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 29 80 0 ENST00000238667.4:c.1110G>A p.Arg370= p.R370= ENST00000238667 NM_017791.2 370 agG/agA 0 -FMOD UCSF GRCh37 1 203316597 203316597 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 99 88 173 0 ENST00000354955.4:c.802C>T p.Pro268Ser p.P268S ENST00000354955 NM_002023.4 268 Ccc/Tcc 0 -FN3K UCSF GRCh37 17 80698656 80698656 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 25 76 0 ENST00000300784.7:c.311G>A p.Gly104Glu p.G104E ENST00000300784 NM_022158.3 104 gGa/gAa 0 -FNDC3B UCSF GRCh37 3 172098803 172098803 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 117 72 195 0 ENST00000336824.4:c.3223G>A p.Glu1075Lys p.E1075K ENST00000336824 NM_001135095.1 1075 Gag/Aag 0 -FNIP2 UCSF GRCh37 4 159790480 159790480 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 58 89 1 ENST00000264433.6:c.2692G>A p.Gly898Arg p.G898R ENST00000264433 NM_020840.1 898 Gga/Aga 0 -FOXA1 UCSF GRCh37 14 38060636 38060636 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 44 116 0 ENST00000250448.2:c.1353G>A p.Glu451= p.E451= ENST00000250448 NM_004496.3 451 gaG/gaA 0 -FOXD4 UCSF GRCh37 9 116953 116953 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 31 93 0 ENST00000382500.2:c.1167G>A p.Leu389= p.L389= ENST00000382500 NM_207305.4 389 ctG/ctA 0 -FOXM1 UCSF GRCh37 12 2968772 2968772 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 30 76 0 ENST00000359843.3:c.1324G>A p.Glu442Lys p.E442K ENST00000359843 NM_021953.3 442 Gag/Aag 0 -FOXN2 UCSF GRCh37 2 48602534 48602534 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 50 89 0 ENST00000340553.3:c.1248C>T p.Ser416= p.S416= ENST00000340553 NM_002158.3 416 tcC/tcT 0 -FOXO3 UCSF GRCh37 6 108984734 108984734 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 51 97 0 ENST00000343882.6:c.698G>A p.Trp233Ter p.W233* ENST00000343882 NM_201559.2 233 tGg/tAg 0 -FOXRED2 UCSF GRCh37 22 36900392 36900392 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 56 92 0 ENST00000216187.6:c.802G>A p.Asp268Asn p.D268N ENST00000216187 NM_024955.5 268 Gat/Aat 0 -FPGT-TNNI3K UCSF GRCh37 1 74905277 74905277 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 68 142 0 ENST00000326637.3:c.1982G>A p.Gly661Asp p.G661D ENST00000326637 NM_015978.2 661 gGc/gAc 0 -FPGT UCSF GRCh37 1 74667011 74667011 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 39 112 0 ENST00000370891.2:c.260G>A p.Gly87Glu p.G87E ENST00000370891 NM_001112808.2 87 gGa/gAa 0 -FPR2 UCSF GRCh37 19 52272376 52272376 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 94 191 0 ENST00000340023.6:c.465C>T p.Val155= p.V155= ENST00000340023 NM_001005738.1 155 gtC/gtT 0 -FRAS1 UCSF GRCh37 4 79239994 79239994 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 87 162 0 ENST00000264895.6:c.1991G>A p.Gly664Asp p.G664D ENST00000264895 NM_025074.6 664 gGt/gAt 0 -FRAS1 UCSF GRCh37 4 79293994 79293994 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 100 77 186 0 ENST00000264895.6:c.2992G>A p.Asp998Asn p.D998N ENST00000264895 NM_025074.6 998 Gac/Aac 0 -FRMD4A UCSF GRCh37 10 13702466 13702466 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 134 58 107 0 ENST00000357447.2:c.1748C>T p.Pro583Leu p.P583L ENST00000357447 NM_018027.3 583 cCt/cTt 0 -FRMPD2 UCSF GRCh37 10 49395323 49395323 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 22 50 0 ENST00000374201.3:c.2178C>T p.Gly726= p.G726= ENST00000374201 NM_001018071.3 726 ggC/ggT 0 -FRMPD4 UCSF GRCh37 X 12734380 12734380 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 129 102 188 1 ENST00000380682.1:c.1802A>G p.Tyr601Cys p.Y601C ENST00000380682 NM_014728.3 601 tAt/tGt 0 -FRY UCSF GRCh37 13 32735339 32735339 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 72 157 0 ENST00000380250.3:c.1843C>T p.Leu615= p.L615= ENST00000380250 NM_023037.2 615 Ctg/Ttg 0 -FSD2 UCSF GRCh37 15 83437731 83437731 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 71 155 0 ENST00000334574.8:c.1454C>T p.Ala485Val p.A485V ENST00000334574 485 gCt/gTt 0 -FSHR UCSF GRCh37 2 49191001 49191001 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 83 210 0 ENST00000406846.2:c.959C>T p.Ser320Phe p.S320F ENST00000406846 NM_000145.3 320 tCc/tTc 0 -FSTL1 UCSF GRCh37 3 120129807 120129807 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 61 145 0 ENST00000295633.3:c.323C>T p.Ala108Val p.A108V ENST00000295633 NM_007085.4 108 gCc/gTc 0 -FUK UCSF GRCh37 16 70503125 70503125 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 67 121 0 ENST00000288078.6:c.854G>A p.Arg285Lys p.R285K ENST00000288078 NM_145059.2 285 aGg/aAg 0 -FUT4 UCSF GRCh37 11 94278693 94278693 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 40 105 0 ENST00000358752.2:c.1394C>T p.Ala465Val p.A465V ENST00000358752 NM_002033.3 465 gCc/gTc 0 -FZD6 UCSF GRCh37 8 104343670 104343670 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 191 56 120 0 ENST00000358755.4:c.2054C>T p.Ser685Phe p.S685F ENST00000358755 NM_001164616.1 685 tCt/tTt 0 -G6PC3 UCSF GRCh37 17 42153172 42153172 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 83 138 0 ENST00000269097.4:c.802C>T p.Pro268Ser p.P268S ENST00000269097 NM_138387.3 268 Ccc/Tcc 0 -GABPB2 UCSF GRCh37 1 151076124 151076124 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 34 116 0 ENST00000368918.3:c.709C>T p.Pro237Ser p.P237S ENST00000368918 NM_144618.2 237 Ccc/Tcc 0 -GABRA2 UCSF GRCh37 4 46390656 46390656 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 86 209 1 ENST00000356504.1:c.68C>T p.Ala23Val p.A23V ENST00000356504 NM_001114175.1 23 gCc/gTc 0 -GABRE UCSF GRCh37 X 151123325 151123325 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 36 43 57 0 ENST00000370328.3:c.1369T>C p.Phe457Leu p.F457L ENST00000370328 NM_004961.3 457 Ttc/Ctc 0 -GABRR1 UCSF GRCh37 6 89913153 89913153 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 39 138 0 ENST00000454853.2:c.173+1G>A p.X58_splice ENST00000454853 NM_001256704.1 0 -GADD45B UCSF GRCh37 19 2477570 2477570 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 14 31 0 ENST00000215631.4:c.454G>A p.Val152Ile p.V152I ENST00000215631 NM_015675.3 152 Gtc/Atc 0 -GAK UCSF GRCh37 4 860250 860250 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 13 42 0 ENST00000314167.4:c.2945G>A p.Gly982Asp p.G982D ENST00000314167 NM_005255.2 982 gGc/gAc 0 -GAL3ST4 UCSF GRCh37 7 99764134 99764134 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 60 139 0 ENST00000360039.4:c.420C>T p.Asn140= p.N140= ENST00000360039 NM_024637.4 140 aaC/aaT 0 -GALK1 UCSF GRCh37 17 73754159 73754159 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 22 30 0 ENST00000225614.2:c.1157G>A p.Gly386Glu p.G386E ENST00000225614 386 gGa/gAa 0 -GALNT1 UCSF GRCh37 18 33283592 33283592 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 51 149 0 ENST00000269195.5:c.1518G>A p.Trp506Ter p.W506* ENST00000269195 NM_020474.3 506 tgG/tgA 0 -GALNT2 UCSF GRCh37 1 230381809 230381809 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 56 119 0 ENST00000366672.4:c.730G>A p.Asp244Asn p.D244N ENST00000366672 NM_004481.3 244 Gac/Aac 0 -GALNT5 UCSF GRCh37 2 158115100 158115100 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 58 144 0 ENST00000259056.4:c.506C>T p.Pro169Leu p.P169L ENST00000259056 NM_014568.1 169 cCa/cTa 0 -GALNT5 UCSF GRCh37 2 158115564 158115564 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 88 100 165 0 ENST00000259056.4:c.970A>G p.Ile324Val p.I324V ENST00000259056 NM_014568.1 324 Att/Gtt 0 -GALNT6 UCSF GRCh37 12 51752915 51752915 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 137 136 256 0 ENST00000356317.3:c.1368+1G>A p.X456_splice ENST00000356317 NM_007210.3 0 -GALNTL1 UCSF GRCh37 14 69814702 69814702 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 38 113 0 ENST00000337827.4:c.1522C>T p.Pro508Ser p.P508S ENST00000337827 NM_020692.2 508 Cct/Tct 0 -GALR2 UCSF GRCh37 17 74071015 74071015 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 17 20 0 ENST00000329003.3:c.51C>T p.Gly17= p.G17= ENST00000329003 NM_003857.2 17 ggC/ggT 0 -GAPT UCSF GRCh37 5 57790774 57790774 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 66 154 0 ENST00000318469.2:c.411G>A p.Gln137= p.Q137= ENST00000318469 137 caG/caA 0 -GARS UCSF GRCh37 7 30672015 30672015 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 105 78 189 0 ENST00000389266.3:c.2056C>T p.Leu686= p.L686= ENST00000389266 NM_002047.2 686 Ctg/Ttg 0 -GAS1 UCSF GRCh37 9 89561092 89561092 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 13 31 0 ENST00000298743.7:c.603C>T p.Asp201= p.D201= ENST00000298743 NM_002048.2 201 gaC/gaT 0 -GAS7 UCSF GRCh37 17 9885131 9885131 + synonymous_variant Silent SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 48 50 117 0 ENST00000432992.2:c.375G>A p.Leu125= p.L125= ENST00000432992 NM_201433.1 125 ctG/ctA 0 -GBF1 UCSF GRCh37 10 104128582 104128582 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 64 122 0 ENST00000369983.3:c.2963G>A p.Ser988Asn p.S988N ENST00000369983 NM_004193.2 988 aGc/aAc 0 -GBGT1 UCSF GRCh37 9 136030567 136030567 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 30 89 0 ENST00000372040.3:c.357G>A p.Gly119= p.G119= ENST00000372040 119 ggG/ggA 0 -GCDH UCSF GRCh37 19 13010315 13010315 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 56 35 92 0 ENST00000222214.5:c.1277G>A p.Arg426Lys p.R426K ENST00000222214 NM_000159.3 426 aGa/aAa 0 -GCNT2 UCSF GRCh37 6 10586567 10586567 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 99 192 0 ENST00000379597.3:c.926-35017G>A *309* ENST00000379597 0 -GDF6 UCSF GRCh37 8 97157609 97157609 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 33 6 30 0 ENST00000287020.5:c.550C>T p.Leu184Phe p.L184F ENST00000287020 NM_001001557.2 184 Ctc/Ttc 0 -GDI2 UCSF GRCh37 10 5815904 5815904 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 137 51 129 0 ENST00000380191.4:c.720G>A p.Arg240= p.R240= ENST00000380191 NM_001494.3 240 agG/agA 0 -GDPD2 UCSF GRCh37 X 69647004 69647004 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 57 119 0 ENST00000374382.3:c.720C>T p.Thr240= p.T240= ENST00000374382 NM_017711.3 240 acC/acT 0 -GDPD3 UCSF GRCh37 16 30123744 30123744 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 49 122 0 ENST00000406256.3:c.366C>T p.Gly122= p.G122= ENST00000406256 NM_024307.2 122 ggC/ggT 0 -GEM UCSF GRCh37 8 95264291 95264291 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 216 62 160 0 ENST00000297596.2:c.569G>A p.Gly190Asp p.G190D ENST00000297596 NM_005261.3 190 gGc/gAc 0 -GEM UCSF GRCh37 8 95262628 95262628 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 209 59 133 0 ENST00000297596.2:c.801G>A p.Arg267= p.R267= ENST00000297596 NM_005261.3 267 agG/agA 0 -GEMIN4 UCSF GRCh37 17 650358 650358 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 105 181 0 ENST00000319004.5:c.925C>T p.Pro309Ser p.P309S ENST00000319004 NM_015721.2 309 Ccc/Tcc 0 -GGCX UCSF GRCh37 2 85785661 85785661 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 78 130 0 ENST00000233838.4:c.441G>A p.Trp147Ter p.W147* ENST00000233838 NM_000821.5 147 tgG/tgA 0 -GGT7 UCSF GRCh37 20 33450626 33450626 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 32 83 0 ENST00000336431.5:c.548G>A p.Gly183Asp p.G183D ENST00000336431 NM_178026.2 183 gGc/gAc 0 -GGT7 UCSF GRCh37 20 33449338 33449338 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 46 127 0 ENST00000336431.5:c.585C>T p.Ile195= p.I195= ENST00000336431 NM_178026.2 195 atC/atT 0 -GIP UCSF GRCh37 17 47039108 47039108 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 20 16 41 0 ENST00000357424.2:c.331G>A p.Glu111Lys p.E111K ENST00000357424 NM_004123.2 111 Gag/Aag 0 -GJA9 UCSF GRCh37 1 39340782 39340782 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 116 96 171 0 ENST00000357771.3:c.989C>T p.Ser330Phe p.S330F ENST00000357771 NM_030772.4 330 tCt/tTt 0 -GK2 UCSF GRCh37 4 80329033 80329033 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 145 110 223 0 ENST00000358842.3:c.322C>T p.Leu108Phe p.L108F ENST00000358842 NM_033214.2 108 Ctc/Ttc 0 -GLI4 UCSF GRCh37 8 144358409 144358409 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 16 27 0 ENST00000340042.1:c.566G>A p.Gly189Asp p.G189D ENST00000340042 NM_138465.3 189 gGc/gAc 0 -GLIPR1 UCSF GRCh37 12 75892611 75892611 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 101 187 0 ENST00000266659.3:c.654C>T p.Tyr218= p.Y218= ENST00000266659 NM_006851.2 218 taC/taT 0 -GLIS2 UCSF GRCh37 16 4384834 4384834 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 47 84 0 ENST00000262366.3:c.378C>T p.Val126= p.V126= ENST00000262366 126 gtC/gtT 0 -GLIS2 UCSF GRCh37 16 4384886 4384886 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 43 69 0 ENST00000262366.3:c.430C>T p.Leu144= p.L144= ENST00000262366 144 Ctg/Ttg 0 -GLRA4 UCSF GRCh37 X 102968460 102968460 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 53 131 0 ENST00000372617.4:c.1071G>A p.Arg357= p.R357= ENST00000372617 NM_001024452.2 357 agG/agA 0 -GLTPD1 UCSF GRCh37 1 1262672 1262672 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 41 60 0 ENST00000343938.4:c.174C>T p.Val58= p.V58= ENST00000343938 NM_001029885.1 58 gtC/gtT 0 -GLYAT UCSF GRCh37 11 58478192 58478192 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 79 139 0 ENST00000344743.3:c.359C>T p.Ala120Val p.A120V ENST00000344743 NM_201648.2 120 gCc/gTc 0 -GMEB1 UCSF GRCh37 1 29030728 29030728 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 62 192 0 ENST00000294409.2:c.785G>A p.Gly262Glu p.G262E ENST00000294409 NM_006582.3 262 gGa/gAa 0 -GMEB2 UCSF GRCh37 20 62227072 62227072 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 34 70 0 ENST00000266068.1:c.510C>T p.Val170= p.V170= ENST00000266068 170 gtC/gtT 0 -GMIP UCSF GRCh37 19 19747590 19747590 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 49 57 0 ENST00000203556.4:c.1253C>T p.Thr418Ile p.T418I ENST00000203556 NM_016573.2 418 aCt/aTt 0 -GMIP UCSF GRCh37 19 19746530 19746530 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 68 142 0 ENST00000203556.4:c.1328G>A p.Gly443Asp p.G443D ENST00000203556 NM_016573.2 443 gGc/gAc 0 -GMNC UCSF GRCh37 3 190578610 190578610 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 83 196 0 ENST00000442080.1:c.41G>A p.Gly14Glu p.G14E ENST00000442080 NM_001146686.2 14 gGa/gAa 0 -GMNC UCSF GRCh37 3 190573093 190573093 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 68 138 0 ENST00000442080.1:c.996G>A p.Lys332= p.K332= ENST00000442080 NM_001146686.2 332 aaG/aaA 0 -GNE UCSF GRCh37 9 36249212 36249212 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 101 185 0 ENST00000377902.5:c.141C>T p.Gly47= p.G47= ENST00000377902 NM_001190383.1 47 ggC/ggT 0 -GNL1 UCSF GRCh37 6 30520252 30520252 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 61 102 0 ENST00000376621.3:c.1091G>A p.Gly364Asp p.G364D ENST00000376621 NM_005275.3 364 gGc/gAc 0 -GNPTAB UCSF GRCh37 12 102161819 102161819 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 79 66 158 0 ENST00000299314.7:c.1404C>T p.Cys468= p.C468= ENST00000299314 NM_024312.4 468 tgC/tgT 0 -GOLGA2 UCSF GRCh37 9 131020399 131020399 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 52 87 0 ENST00000421699.2:c.2287G>A p.Val763Met p.V763M ENST00000421699 NM_004486.4 763 Gtg/Atg 0 -GOLGA2 UCSF GRCh37 9 131021652 131021652 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 17 38 0 ENST00000421699.2:c.1810G>A p.Glu604Lys p.E604K ENST00000421699 NM_004486.4 604 Gag/Aag 0 -GOLGA6D UCSF GRCh37 15 75586567 75586567 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P10_Rec Untested WXS Illumina HiSeq 10 0 ENST00000434739.3:c.1924del p.Gln642ArgfsTer15 p.Q642Rfs*15 ENST00000434739 NM_001145224.1 640 gCc/gc 0 -GOLGB1 UCSF GRCh37 3 121416851 121416851 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 105 229 0 ENST00000340645.5:c.2504G>A p.Ser835Asn p.S835N ENST00000340645 NM_001256487.1 835 aGc/aAc 0 -GOLGB1 UCSF GRCh37 3 121421378 121421378 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 122 95 220 0 ENST00000340645.5:c.1454G>A p.Gly485Glu p.G485E ENST00000340645 NM_001256487.1 485 gGa/gAa 0 -GOLM1 UCSF GRCh37 9 88661417 88661417 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 12 48 0 ENST00000388711.3:c.435G>A p.Gln145= p.Q145= ENST00000388711 NM_177937.2 145 caG/caA 0 -GOLT1A UCSF GRCh37 1 204172028 204172028 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 38 77 0 ENST00000308302.3:c.113G>A p.Gly38Glu p.G38E ENST00000308302 NM_198447.1 38 gGa/gAa 0 -GPAA1 UCSF GRCh37 8 145140933 145140933 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 229 60 95 0 ENST00000355091.4:c.1771G>A p.Glu591Lys p.E591K ENST00000355091 NM_003801.3 591 Gag/Aag 0 -GPATCH2 UCSF GRCh37 1 217793651 217793651 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 88 167 1 ENST00000366935.3:c.247G>A p.Glu83Lys p.E83K ENST00000366935 NM_018040.2 83 Gag/Aag 0 -GPATCH2 UCSF GRCh37 1 217793830 217793830 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 61 170 0 ENST00000366935.3:c.68G>A p.Arg23Lys p.R23K ENST00000366935 NM_018040.2 23 aGa/aAa 0 -GPATCH8 UCSF GRCh37 17 42477705 42477705 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 55 181 0 ENST00000591680.1:c.1740G>A p.Arg580= p.R580= ENST00000591680 NM_001002909.2 580 agG/agA 0 -GPC1 UCSF GRCh37 2 241401769 241401769 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 5 14 0 ENST00000264039.2:c.487C>T p.Leu163= p.L163= ENST00000264039 NM_002081.2 163 Ctg/Ttg 0 -GPC5 UCSF GRCh37 13 92408593 92408593 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 85 193 0 ENST00000377067.3:c.1199G>A p.Gly400Asp p.G400D ENST00000377067 NM_004466.4 400 gGt/gAt 0 -GPCPD1 UCSF GRCh37 20 5550836 5550836 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 50 121 0 ENST00000379019.4:c.1106C>T p.Pro369Leu p.P369L ENST00000379019 NM_019593.3 369 cCc/cTc 0 -GPNMB UCSF GRCh37 7 23300324 23300324 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 94 207 0 ENST00000381990.2:c.950C>T p.Ala317Val p.A317V ENST00000381990 NM_002510.2 317 gCt/gTt 0 -GPR113 UCSF GRCh37 2 26534114 26534114 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 56 76 0 ENST00000311519.1:c.2482G>A p.Gly828Ser p.G828S ENST00000311519 NM_001145168.1 828 Ggc/Agc 0 -GPR113 UCSF GRCh37 2 26533621 26533621 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 39 100 0 ENST00000311519.1:c.2975C>T p.Thr992Ile p.T992I ENST00000311519 NM_001145168.1 992 aCt/aTt 0 -GPR124 UCSF GRCh37 8 37698907 37698907 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 13 16 25 0 ENST00000412232.2:c.3051C>T p.Val1017= p.V1017= ENST00000412232 NM_032777.9 1017 gtC/gtT 0 -GPR132 UCSF GRCh37 14 105517706 105517706 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 45 110 0 ENST00000329797.3:c.768C>T p.Ala256= p.A256= ENST00000329797 NM_013345.3 256 gcC/gcT 0 -GPR141 UCSF GRCh37 7 37780399 37780399 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 107 171 0 ENST00000334425.1:c.404C>T p.Ala135Val p.A135V ENST00000334425 NM_181791.1 135 gCc/gTc 0 -GPR158 UCSF GRCh37 10 25464933 25464933 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 23 49 0 ENST00000376351.3:c.584C>T p.Thr195Met p.T195M ENST00000376351 NM_020752.2 195 aCg/aTg 0 -GPR161 UCSF GRCh37 1 168066189 168066189 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 51 119 0 ENST00000367835.1:c.656C>T p.Ala219Val p.A219V ENST00000367835 NM_001267610.1 219 gCa/gTa 0 -GPR162 UCSF GRCh37 12 6933578 6933578 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 49 79 0 ENST00000311268.3:c.514G>A p.Val172Ile p.V172I ENST00000311268 NM_019858.1 172 Gtc/Atc 0 -GPR179 UCSF GRCh37 17 36485896 36485896 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 131 88 189 0 ENST00000342292.4:c.3556G>A p.Gly1186Ser p.G1186S ENST00000342292 NM_001004334.2 1186 Ggt/Agt 0 -GPR182 UCSF GRCh37 12 57390041 57390041 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 115 84 173 0 ENST00000300098.1:c.1048G>A p.Ala350Thr p.A350T ENST00000300098 NM_007264.3 350 Gcc/Acc 0 -GPR25 UCSF GRCh37 1 200842190 200842190 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 7 11 0 ENST00000304244.2:c.25C>T p.Pro9Ser p.P9S ENST00000304244 NM_005298.3 9 Ccc/Tcc 0 -GPR26 UCSF GRCh37 10 125447457 125447457 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 49 105 0 ENST00000284674.1:c.795C>T p.Leu265= p.L265= ENST00000284674 NM_153442.3 265 ctC/ctT 0 -GPR44 UCSF GRCh37 11 60620894 60620894 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 14 22 0 ENST00000332539.4:c.302C>T p.Thr101Ile p.T101I ENST00000332539 NM_004778.2 101 aCc/aTc 0 -GPR98 UCSF GRCh37 5 90087119 90087119 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 99 71 181 0 ENST00000405460.2:c.14473G>A p.Asp4825Asn p.D4825N ENST00000405460 NM_032119.3 4825 Gat/Aat 0 -GPR98 UCSF GRCh37 5 89941817 89941817 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 65 157 0 ENST00000405460.2:c.2931C>T p.Ile977= p.I977= ENST00000405460 NM_032119.3 977 atC/atT 0 -GPRC5D UCSF GRCh37 12 13102939 13102939 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 100 79 177 0 ENST00000228887.1:c.380C>T p.Thr127Met p.T127M ENST00000228887 NM_018654.1 127 aCg/aTg 0 -GPRC5D UCSF GRCh37 12 13103201 13103201 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 65 151 0 ENST00000228887.1:c.118C>T p.Leu40= p.L40= ENST00000228887 NM_018654.1 40 Cta/Tta 0 -GPRIN2 UCSF GRCh37 10 47000217 47000217 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.067,1000g2011may_all_0.1080,snp132_rs72780221 P10_Rec Untested WXS Illumina HiSeq 31 7 21 0 ENST00000374314.4:c.1337G>A p.Arg446His p.R446H ENST00000374314 446 cGc/cAc 0 -GPS1 UCSF GRCh37 17 80013898 80013898 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 28 39 0 ENST00000306823.6:c.868G>A p.Ala290Thr p.A290T ENST00000306823 290 Gcc/Acc 0 -GPSM3 UCSF GRCh37 6 32159599 32159599 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 31 35 65 0 ENST00000375040.3:c.232G>A p.Glu78Lys p.E78K ENST00000375040 NM_001276501.1 78 Gag/Aag 0 -GPSM3 UCSF GRCh37 6 32159654 32159654 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 18 54 0 ENST00000375040.3:c.177C>T p.Ser59= p.S59= ENST00000375040 NM_001276501.1 59 tcC/tcT 0 -GPT UCSF GRCh37 8 145731405 145731405 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 20 57 0 ENST00000394955.2:c.847G>A p.Gly283Ser p.G283S ENST00000394955 NM_005309.2 283 Ggt/Agt 0 -GPX3 UCSF GRCh37 5 150406564 150406564 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 60 121 0 ENST00000388825.4:c.345C>T p.Ile115= p.I115= ENST00000388825 NM_002084.3 115 atC/atT 0 -GRAMD1B UCSF GRCh37 11 123489414 123489414 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 47 133 0 ENST00000529750.1:c.1915G>A p.Val639Ile p.V639I ENST00000529750 NM_020716.1 639 Gtc/Atc 0 -GREB1 UCSF GRCh37 2 11756768 11756768 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 122 112 206 0 ENST00000234142.5:c.3334G>A p.Glu1112Lys p.E1112K ENST00000234142 1112 Gag/Aag 0 -GREB1L UCSF GRCh37 18 18981246 18981246 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 68 152 0 ENST00000424526.1:c.668C>T p.Ser223Phe p.S223F ENST00000424526 NM_001142966.1 223 tCc/tTc 0 -GREB1L UCSF GRCh37 18 19079801 19079801 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 54 91 0 ENST00000424526.1:c.3503G>A p.Gly1168Glu p.G1168E ENST00000424526 NM_001142966.1 1168 gGg/gAg 0 -GREB1L UCSF GRCh37 18 19019504 19019504 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 72 155 0 ENST00000424526.1:c.855C>T p.Ser285= p.S285= ENST00000424526 NM_001142966.1 285 agC/agT 0 -GRIA2 UCSF GRCh37 4 158262441 158262441 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 71 180 0 ENST00000264426.9:c.1870G>A p.Gly624Ser p.G624S ENST00000264426 NM_001083619.1 624 Ggt/Agt 0 -GRID2 UCSF GRCh37 4 94693496 94693496 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 69 162 0 ENST00000282020.4:c.2871G>A p.Val957= p.V957= ENST00000282020 NM_001510.2 957 gtG/gtA 0 -GRIK2 UCSF GRCh37 6 102124666 102124666 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 44 124 0 ENST00000421544.1:c.710G>A p.Gly237Asp p.G237D ENST00000421544 NM_021956.4 237 gGc/gAc 0 -GRIK3 UCSF GRCh37 1 37271904 37271904 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 30 56 0 ENST00000373091.3:c.2115G>A p.Glu705= p.E705= ENST00000373091 NM_000831.3 705 gaG/gaA 0 -GRIN2B UCSF GRCh37 12 13716834 13716834 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 46 69 0 ENST00000609686.1:c.3338C>T p.Pro1113Leu p.P1113L ENST00000609686 NM_000834.3 1113 cCg/cTg 0 -GRIN2B UCSF GRCh37 12 14018739 14018739 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 110 221 0 ENST00000609686.1:c.404C>T p.Ala135Val p.A135V ENST00000609686 NM_000834.3 135 gCa/gTa 0 -GRIN2D UCSF GRCh37 19 48908291 48908291 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 32 40 0 ENST00000263269.3:c.766G>A p.Val256Met p.V256M ENST00000263269 NM_000836.2 256 Gtg/Atg 0 -GRIN3B UCSF GRCh37 19 1005335 1005335 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 54 100 0 ENST00000234389.3:c.1835C>T p.Thr612Ile p.T612I ENST00000234389 NM_138690.1 612 aCc/aTc 0 -GRINA UCSF GRCh37 8 145066899 145066899 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 161 27 60 0 ENST00000313269.5:c.1006C>T p.Gln336Ter p.Q336* ENST00000313269 NM_000837.1 336 Cag/Tag 0 -GRK5 UCSF GRCh37 10 121207635 121207635 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 57 102 0 ENST00000392870.2:c.1267C>T p.Leu423= p.L423= ENST00000392870 NM_005308.2 423 Ctg/Ttg 0 -GRM3 UCSF GRCh37 7 86394480 86394480 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 101 223 0 ENST00000361669.2:c.19C>T p.Leu7= p.L7= ENST00000361669 NM_000840.2 7 Ctg/Ttg 0 -GRM4 UCSF GRCh37 6 34008508 34008508 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 48 81 0 ENST00000538487.2:c.1186C>T p.Gln396Ter p.Q396* ENST00000538487 NM_000841.2 396 Cag/Tag 0 -GRWD1 UCSF GRCh37 19 48950053 48950053 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 36 78 0 ENST00000253237.5:c.421C>T p.Leu141= p.L141= ENST00000253237 NM_031485.3 141 Ctg/Ttg 0 -GRXCR1 UCSF GRCh37 4 42964927 42964927 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 143 109 220 0 ENST00000399770.2:c.403G>A p.Glu135Lys p.E135K ENST00000399770 NM_001080476.2 135 Gaa/Aaa 0 -GSTCD UCSF GRCh37 4 106766655 106766655 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 57 147 0 ENST00000360505.5:c.1823G>A p.Gly608Glu p.G608E ENST00000360505 NM_001031720.3 608 gGa/gAa 0 -GSTM4 UCSF GRCh37 1 110200394 110200394 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 101 79 176 0 ENST00000369836.4:c.260G>A p.Cys87Tyr p.C87Y ENST00000369836 NM_000850.4 87 tGt/tAt 0 -GSTO1 UCSF GRCh37 10 106019413 106019413 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 65 145 0 ENST00000369713.5:c.223C>T p.Leu75= p.L75= ENST00000369713 NM_004832.2 75 Ctg/Ttg 0 -GSTT2 UCSF GRCh37 22 24323227 24323227 + splice_donor_variant Splice_Site SNP G G A 1000g2010nov_all_0.153,1000g2011may_all_0.2294,snp132_rs5996646 P10_Rec Untested WXS Illumina HiSeq 62 48 77 0 ENST00000215780.5:c.200+1G>A p.X67_splice ENST00000215780 NM_000854.3 0 -GTDC1 UCSF GRCh37 2 144709586 144709586 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 77 171 0 ENST00000344850.4:c.1256G>A p.Cys419Tyr p.C419Y ENST00000344850 419 tGc/tAc 0 -GTF3C5 UCSF GRCh37 9 135931419 135931419 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 24 68 0 ENST00000372097.5:c.1188G>A p.Arg396= p.R396= ENST00000372097 NM_012087.3 396 cgG/cgA 0 -GTPBP1 UCSF GRCh37 22 39123237 39123237 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 5 84 150 1 ENST00000216044.5:c.1421G>A p.Arg474Gln p.R474Q ENST00000216044 NM_004286.4 474 cGg/cAg 0 -GTPBP4 UCSF GRCh37 10 1046647 1046647 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 48 103 0 ENST00000360803.4:c.685C>T p.Pro229Ser p.P229S ENST00000360803 NM_012341.2 229 Cct/Tct 0 -GUK1 UCSF GRCh37 1 228336552 228336552 + 3_prime_UTR_variant 3'UTR SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 8 21 0 ENST00000312726.4:c.*154G>A *52* ENST00000312726 NM_000858.5 0 -GZMA UCSF GRCh37 5 54404211 54404211 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 50 147 0 ENST00000274306.6:c.616G>A p.Asp206Asn p.D206N ENST00000274306 NM_006144.3 206 Gac/Aac 0 -HADHB UCSF GRCh37 2 26508395 26508395 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 39 116 0 ENST00000317799.5:c.1345G>A p.Gly449Arg p.G449R ENST00000317799 NM_000183.2 449 Gga/Aga 0 -HAO1 UCSF GRCh37 20 7864306 7864306 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 45 133 0 ENST00000378789.3:c.1047C>T p.Cys349= p.C349= ENST00000378789 NM_017545.2 349 tgC/tgT 0 -HARS2 UCSF GRCh37 5 140076985 140076985 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 53 105 0 ENST00000230771.3:c.1191G>A p.Arg397= p.R397= ENST00000230771 NM_012208.3 397 agG/agA 0 -HAUS5 UCSF GRCh37 19 36104642 36104642 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 35 86 0 ENST00000203166.5:c.109G>A p.Gly37Ser p.G37S ENST00000203166 NM_015302.1 37 Ggc/Agc 0 -HBEGF UCSF GRCh37 5 139722342 139722342 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 121 124 238 0 ENST00000230990.6:c.276G>A p.Gly92= p.G92= ENST00000230990 NM_001945.2 92 ggG/ggA 0 -HCFC1 UCSF GRCh37 X 153215898 153215898 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 55 78 0 ENST00000310441.7:c.5800G>A p.Ala1934Thr p.A1934T ENST00000310441 NM_005334.2 1934 Gct/Act 0 -HCFC1 UCSF GRCh37 X 153228826 153228826 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 63 112 0 ENST00000310441.7:c.562G>A p.Asp188Asn p.D188N ENST00000310441 NM_005334.2 188 Gac/Aac 0 -HCFC1 UCSF GRCh37 X 153217516 153217516 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 10 18 0 ENST00000310441.7:c.5036C>T p.Ala1679Val p.A1679V ENST00000310441 NM_005334.2 1679 gCc/gTc 0 -HCRTR2 UCSF GRCh37 6 55142286 55142286 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 55 129 0 ENST00000370862.3:c.871G>A p.Ala291Thr p.A291T ENST00000370862 NM_001526.3 291 Gct/Act 0 -HDAC1 UCSF GRCh37 1 32793232 32793232 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 52 127 0 ENST00000373548.3:c.590C>T p.Ser197Phe p.S197F ENST00000373548 NM_004964.2 197 tCc/tTc 0 -HDAC2 UCSF GRCh37 6 114274491 114274491 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 108 186 0 ENST00000519065.1:c.589G>A p.Val197Ile p.V197I ENST00000519065 197 Gta/Ata 0 -HDAC4 UCSF GRCh37 2 240024572 240024572 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 33 65 0 ENST00000345617.3:c.2118C>T p.Ala706= p.A706= ENST00000345617 NM_006037.3 706 gcC/gcT 0 -HDAC7 UCSF GRCh37 12 48189160 48189160 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 15 28 0 ENST00000427332.2:c.974C>T p.Pro325Leu p.P325L ENST00000427332 325 cCc/cTc 0 -HDLBP UCSF GRCh37 2 242179450 242179450 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 87 171 0 ENST00000391975.1:c.2257G>A p.Val753Met p.V753M ENST00000391975 NM_203346.3 753 Gtg/Atg 0 -HDX UCSF GRCh37 X 83599315 83599315 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 61 182 0 ENST00000297977.5:c.1603G>A p.Glu535Lys p.E535K ENST00000297977 NM_001177479.1 535 Gag/Aag 0 -HEATR8 UCSF GRCh37 1 55166075 55166075 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 33 52 0 ENST00000421030.2:c.3046C>T p.Pro1016Ser p.P1016S ENST00000421030 NM_001039464.2 1016 Ccc/Tcc 0 -HECA UCSF GRCh37 6 139488196 139488196 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 45 95 1 ENST00000367658.2:c.1047C>T p.Leu349= p.L349= ENST00000367658 NM_016217.2 349 ctC/ctT 0 -HECTD1 UCSF GRCh37 14 31578805 31578805 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 31 72 0 ENST00000399332.1:c.6279-1G>A p.X2093_splice ENST00000399332 NM_015382.2 0 -HECTD1 UCSF GRCh37 14 31617926 31617926 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 46 100 0 ENST00000399332.1:c.2496+1G>A p.X832_splice ENST00000399332 NM_015382.2 0 -HECTD1 UCSF GRCh37 14 31638597 31638597 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 83 208 0 ENST00000399332.1:c.1410G>A p.Arg470= p.R470= ENST00000399332 NM_015382.2 470 agG/agA 0 -HELQ UCSF GRCh37 4 84328662 84328662 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 39 90 0 ENST00000295488.3:c.3250C>T p.Leu1084= p.L1084= ENST00000295488 NM_133636.2 1084 Cta/Tta 0 -HEMGN UCSF GRCh37 9 100689682 100689682 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 143 69 156 0 ENST00000259456.3:c.1439G>A p.Ser480Asn p.S480N ENST00000259456 NM_018437.4 480 aGt/aAt 0 -HEPHL1 UCSF GRCh37 11 93845043 93845043 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 123 204 1 ENST00000315765.9:c.3463C>T p.Pro1155Ser p.P1155S ENST00000315765 NM_001098672.1 1155 Ccc/Tcc 0 -HEPN1 UCSF GRCh37 11 124789666 124789666 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 47 86 0 ENST00000408930.5:c.20G>A p.Gly7Glu p.G7E ENST00000408930 NM_001037558.2 7 gGa/gAa 0 -HERC1 UCSF GRCh37 15 64041674 64041674 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 68 162 0 ENST00000443617.2:c.2111G>A p.Gly704Asp p.G704D ENST00000443617 NM_003922.3 704 gGt/gAt 0 -HERC1 UCSF GRCh37 15 63948464 63948464 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 85 136 0 ENST00000443617.2:c.9693G>A p.Gly3231= p.G3231= ENST00000443617 NM_003922.3 3231 ggG/ggA 0 -HERC1 UCSF GRCh37 15 63915067 63915067 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 33 21 89 0 ENST00000443617.2:c.13635C>T p.Asp4545= p.D4545= ENST00000443617 NM_003922.3 4545 gaC/gaT 0 -HERC2 UCSF GRCh37 15 28467217 28467217 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 78 228 0 ENST00000261609.7:c.5609G>A p.Gly1870Glu p.G1870E ENST00000261609 NM_004667.5 1870 gGa/gAa 0 -HERC2 UCSF GRCh37 15 28389922 28389922 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 49 89 0 ENST00000261609.7:c.11037G>A p.Glu3679= p.E3679= ENST00000261609 NM_004667.5 3679 gaG/gaA 0 -HEXDC UCSF GRCh37 17 80393661 80393661 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 50 78 0 ENST00000327949.9:c.544G>A p.Ala182Thr p.A182T ENST00000327949 182 Gcc/Acc 0 -HEXDC UCSF GRCh37 17 80400336 80400336 + 3_prime_UTR_variant 3'UTR SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 41 81 0 ENST00000327949.9:c.*76G>A *26* ENST00000327949 0 -HHAT UCSF GRCh37 1 210591662 210591662 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 54 137 0 ENST00000261458.3:c.849G>A p.Trp283Ter p.W283* ENST00000261458 NM_018194.4 283 tgG/tgA 0 -HHIPL2 UCSF GRCh37 1 222717259 222717259 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 43 96 0 ENST00000343410.6:c.594C>T p.Ala198= p.A198= ENST00000343410 NM_024746.3 198 gcC/gcT 0 -HHLA1 UCSF GRCh37 8 133088376 133088376 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 23 38 0 ENST00000434736.2:c.1349G>A p.Gly450Asp p.G450D ENST00000434736 450 gGt/gAt 0 -HIBCH UCSF GRCh37 2 191125913 191125913 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 56 159 0 ENST00000359678.5:c.486G>A p.Lys162= p.K162= ENST00000359678 NM_198047.2 162 aaG/aaA 0 -HIF1A UCSF GRCh37 14 62194253 62194253 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 68 178 0 ENST00000337138.4:c.653C>T p.Thr218Ile p.T218I ENST00000337138 NM_001530.3 218 aCc/aTc 0 -HIF3A UCSF GRCh37 19 46811518 46811518 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 40 136 0 ENST00000377670.4:c.404C>T p.Pro135Leu p.P135L ENST00000377670 NM_152795.3 135 cCc/cTc 0 -HIP1 UCSF GRCh37 7 75221383 75221383 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 79 151 0 ENST00000336926.6:c.375C>T p.Ser125= p.S125= ENST00000336926 NM_005338.6 125 agC/agT 0 -HIPK1 UCSF GRCh37 1 114499778 114499778 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 65 160 0 ENST00000369558.1:c.1625G>A p.Cys542Tyr p.C542Y ENST00000369558 542 tGc/tAc 0 -HIPK1 UCSF GRCh37 1 114499776 114499776 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 67 161 0 ENST00000369558.1:c.1623C>T p.Ile541= p.I541= ENST00000369558 541 atC/atT 0 -HIST1H2BC UCSF GRCh37 6 26123872 26123872 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 84 177 0 ENST00000314332.5:c.261C>T p.Arg87= p.R87= ENST00000314332 87 cgC/cgT 0 -HIVEP3 UCSF GRCh37 1 42047716 42047716 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 74 141 0 ENST00000247584.5:c.2753G>A p.Gly918Glu p.G918E ENST00000247584 918 gGg/gAg 0 -HJURP UCSF GRCh37 2 234750489 234750489 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 71 128 0 ENST00000411486.2:c.937G>A p.Ala313Thr p.A313T ENST00000411486 NM_018410.3 313 Gcc/Acc 0 -HJURP UCSF GRCh37 2 234754383 234754383 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 54 128 0 ENST00000411486.2:c.486G>A p.Glu162= p.E162= ENST00000411486 NM_018410.3 162 gaG/gaA 0 -HLA-G UCSF GRCh37 6 29795629 29795629 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 43 20 83 0 ENST00000360323.6:c.8T>C p.Val3Ala p.V3A ENST00000360323 3 gTc/gCc 0 -HMBS UCSF GRCh37 11 118963857 118963857 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 62 126 0 ENST00000278715.3:c.950G>A p.Gly317Asp p.G317D ENST00000278715 NM_000190.3 317 gGc/gAc 0 -HMCN1 UCSF GRCh37 1 186134277 186134277 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 52 118 0 ENST00000271588.4:c.15291C>T p.Thr5097= p.T5097= ENST00000271588 NM_031935.2 5097 acC/acT 0 -HMGCLL1 UCSF GRCh37 6 55360216 55360216 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 35 149 0 ENST00000398661.2:c.885+1G>A p.X295_splice ENST00000398661 NM_019036.2 0 -HMHA1 UCSF GRCh37 19 1083224 1083224 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 9 12 0 ENST00000313093.2:c.2827C>T p.Pro943Ser p.P943S ENST00000313093 NM_012292.3 943 Ccc/Tcc 0 -HMX3 UCSF GRCh37 10 124896686 124896686 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 11 31 0 ENST00000357878.5:c.513C>T p.Ser171= p.S171= ENST00000357878 NM_001105574.1 171 agC/agT 0 -HNF4G UCSF GRCh37 8 76463725 76463725 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 45 101 0 ENST00000354370.1:c.344G>A p.Arg115His p.R115H ENST00000354370 115 cGc/cAc 0 -HNRNPA1 UCSF GRCh37 12 54678084 54678084 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 62 164 0 ENST00000340913.6:c.1106G>A p.Gly369Asp p.G369D ENST00000340913 NM_002136.2 369 gGc/gAc 0 -HNRNPU UCSF GRCh37 1 245026995 245026995 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 10 12 0 ENST00000283179.9:c.615G>A p.Gln205= p.Q205= ENST00000283179 205 caG/caA 0 -HNRNPUL2 UCSF GRCh37 11 62483026 62483026 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 64 137 0 ENST00000301785.5:c.2109G>A p.Gly703= p.G703= ENST00000301785 NM_001079559.2 703 ggG/ggA 0 -HNRNPUL2 UCSF GRCh37 11 62487502 62487502 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 84 144 0 ENST00000301785.5:c.1773G>A p.Glu591= p.E591= ENST00000301785 NM_001079559.2 591 gaG/gaA 0 -HOMEZ UCSF GRCh37 14 23745503 23745503 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 95 196 0 ENST00000357460.5:c.934G>A p.Val312Ile p.V312I ENST00000357460 NM_020834.2 312 Gtc/Atc 0 -HOMEZ UCSF GRCh37 14 23745147 23745147 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 116 105 176 0 ENST00000357460.5:c.1290C>T p.Phe430= p.F430= ENST00000357460 NM_020834.2 430 ttC/ttT 0 -HOXA5 UCSF GRCh37 7 27182773 27182773 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 29 63 0 ENST00000222726.3:c.454G>A p.Asp152Asn p.D152N ENST00000222726 NM_019102.3 152 Gac/Aac 0 -HOXB3 UCSF GRCh37 17 46627775 46627775 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 33 19 52 0 ENST00000311626.4:c.1217C>T p.Thr406Ile p.T406I ENST00000311626 NM_002146.4 406 aCc/aTc 0 -HOXC9 UCSF GRCh37 12 54396377 54396377 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 70 177 0 ENST00000303450.4:c.702G>A p.Arg234= p.R234= ENST00000303450 NM_006897.1 234 cgG/cgA 0 -HOXD12 UCSF GRCh37 2 176964675 176964675 + missense_variant Missense_Mutation SNP T T G NOVEL P10_Rec Untested WXS Illumina HiSeq 39 32 57 1 ENST00000406506.2:c.146T>G p.Leu49Arg p.L49R ENST00000406506 49 cTg/cGg 0 -HPCAL4 UCSF GRCh37 1 40149716 40149716 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 16 51 0 ENST00000372844.3:c.271G>A p.Val91Ile p.V91I ENST00000372844 NM_016257.2 91 Gtc/Atc 0 -HR UCSF GRCh37 8 21977951 21977951 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 48 78 0 ENST00000381418.4:c.2680C>T p.Leu894Phe p.L894F ENST00000381418 NM_005144.4 894 Ctt/Ttt 0 -HRC UCSF GRCh37 19 49656719 49656719 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 23 42 0 ENST00000252825.4:c.1776C>T p.Asp592= p.D592= ENST00000252825 NM_002152.2 592 gaC/gaT 0 -HRNR UCSF GRCh37 1 152185889 152185889 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 8 25 0 ENST00000368801.2:c.8216G>A p.Ser2739Asn p.S2739N ENST00000368801 NM_001009931.2 2739 aGc/aAc 0 -HRNR UCSF GRCh37 1 152191061 152191061 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 98 263 0 ENST00000368801.2:c.3044G>A p.Gly1015Glu p.G1015E ENST00000368801 NM_001009931.2 1015 gGg/gAg 0 -HRNR UCSF GRCh37 1 152188064 152188064 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 488 73 912 0 ENST00000368801.2:c.6041C>T p.Ser2014Phe p.S2014F ENST00000368801 NM_001009931.2 2014 tCt/tTt 0 -HRNR UCSF GRCh37 1 152193068 152193068 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 123 111 207 0 ENST00000368801.2:c.1037C>T p.Ser346Phe p.S346F ENST00000368801 NM_001009931.2 346 tCt/tTt 0 -HS3ST3A1 UCSF GRCh37 17 13400067 13400067 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 42 124 0 ENST00000284110.1:c.668G>A p.Arg223Gln p.R223Q ENST00000284110 NM_006042.1 223 cGg/cAg 0 -HS3ST3B1 UCSF GRCh37 17 14248413 14248413 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 1 38 46 0 ENST00000360954.2:c.623G>A p.Arg208Gln p.R208Q ENST00000360954 NM_006041.1 208 cGg/cAg 0 -HS3ST4 UCSF GRCh37 16 25704412 25704412 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 19 42 0 ENST00000331351.5:c.674C>T p.Ala225Val p.A225V ENST00000331351 NM_006040.2 225 gCg/gTg 0 -HSD11B2 UCSF GRCh37 16 67470844 67470844 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 26 72 0 ENST00000326152.5:c.1156C>T p.Pro386Ser p.P386S ENST00000326152 NM_000196.3 386 Cca/Tca 0 -HSDL1 UCSF GRCh37 16 84158330 84158330 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 41 84 0 ENST00000219439.4:c.898C>T p.Leu300Phe p.L300F ENST00000219439 NM_001146051.1 300 Ctt/Ttt 0 -HSF1 UCSF GRCh37 8 145533197 145533197 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 185 43 102 0 ENST00000528838.1:c.283G>A p.Asp95Asn p.D95N ENST00000528838 NM_005526.2 95 Gac/Aac 0 -HSPA14 UCSF GRCh37 10 14890607 14890607 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 37 108 0 ENST00000378372.3:c.222-1G>A p.X74_splice ENST00000378372 NM_016299.3 0 -HSPA1A UCSF GRCh37 6 31783580 31783580 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 34 87 0 ENST00000375651.5:c.47C>T p.Ser16Phe p.S16F ENST00000375651 NM_005345.5 16 tCc/tTc 0 -HSPA5 UCSF GRCh37 9 128001393 128001393 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 168 72 146 0 ENST00000324460.6:c.823G>A p.Gly275Ser p.G275S ENST00000324460 NM_005347.4 275 Ggc/Agc 0 -HSPA5 UCSF GRCh37 9 128001379 128001379 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 156 77 144 0 ENST00000324460.6:c.837G>A p.Arg279= p.R279= ENST00000324460 NM_005347.4 279 agG/agA 0 -HSPG2 UCSF GRCh37 1 22206914 22206914 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 32 54 0 ENST00000374695.3:c.2137G>A p.Asp713Asn p.D713N ENST00000374695 NM_005529.5 713 Gat/Aat 0 -HSPG2 UCSF GRCh37 1 22202774 22202774 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 20 9 23 0 ENST00000374695.3:c.2951T>C p.Leu984Pro p.L984P ENST00000374695 NM_005529.5 984 cTc/cCc 0 -HTATSF1 UCSF GRCh37 X 135592333 135592333 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 117 243 0 ENST00000218364.4:c.1017C>T p.Gly339= p.G339= ENST00000218364 NM_014500.4 339 ggC/ggT 0 -HTR3A UCSF GRCh37 11 113853846 113853846 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 62 152 0 ENST00000504030.2:c.379G>A p.Asp127Asn p.D127N ENST00000504030 127 Gat/Aat 0 -HTRA1 UCSF GRCh37 10 124248504 124248504 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 54 132 0 ENST00000368984.3:c.559G>A p.Glu187Lys p.E187K ENST00000368984 NM_002775.4 187 Gaa/Aaa 0 -HTT UCSF GRCh37 4 3144503 3144503 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 84 141 0 ENST00000355072.5:c.2956G>A p.Gly986Ser p.G986S ENST00000355072 NM_002111.6 986 Ggc/Agc 0 -HUWE1 UCSF GRCh37 X 53591615 53591615 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 59 133 0 ENST00000262854.6:c.6949G>A p.Asp2317Asn p.D2317N ENST00000262854 NM_031407.5 2317 Gat/Aat 0 -HUWE1 UCSF GRCh37 X 53563380 53563380 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 66 231 0 ENST00000262854.6:c.12386C>T p.Thr4129Ile p.T4129I ENST00000262854 NM_031407.5 4129 aCt/aTt 0 -HUWE1 UCSF GRCh37 X 53566032 53566032 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 18 52 0 ENST00000262854.6:c.11642C>T p.Pro3881Leu p.P3881L ENST00000262854 NM_031407.5 3881 cCt/cTt 0 -HYAL2 UCSF GRCh37 3 50357097 50357097 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 4 34 53 0 ENST00000357750.4:c.824C>T p.Ala275Val p.A275V ENST00000357750 NM_003773.4 275 gCc/gTc 0 -HYDIN UCSF GRCh37 16 70989284 70989284 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 211 69 265 0 ENST00000393567.2:c.6310G>A p.Glu2104Lys p.E2104K ENST00000393567 NM_001270974.1 2104 Gag/Aag 0 -HYDIN UCSF GRCh37 16 71061635 71061635 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 196 56 254 0 ENST00000393567.2:c.2912C>T p.Pro971Leu p.P971L ENST00000393567 NM_001270974.1 971 cCc/cTc 0 -HYOU1 UCSF GRCh37 11 118924874 118924874 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 70 143 0 ENST00000404233.3:c.753G>A p.Lys251= p.K251= ENST00000404233 NM_001130991.1 251 aaG/aaA 0 -IARS2 UCSF GRCh37 1 220300096 220300096 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 67 146 0 ENST00000366922.1:c.1532G>A p.Gly511Asp p.G511D ENST00000366922 511 gGt/gAt 0 -IBA57 UCSF GRCh37 1 228363087 228363087 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 59 130 0 ENST00000366711.3:c.944G>A p.Gly315Asp p.G315D ENST00000366711 NM_001010867.2 315 gGc/gAc 0 -IBTK UCSF GRCh37 6 82935319 82935319 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 62 143 2 ENST00000306270.7:c.700G>A p.Val234Met p.V234M ENST00000306270 NM_015525.2 234 Gtg/Atg 0 -ICAM1 UCSF GRCh37 19 10395520 10395520 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 39 81 0 ENST00000264832.3:c.1242G>A p.Gln414= p.Q414= ENST00000264832 NM_000201.2 414 caG/caA 0 -ICAM2 UCSF GRCh37 17 62082531 62082531 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 50 100 0 ENST00000412356.1:c.264C>T p.Val88= p.V88= ENST00000412356 NM_001099786.1 88 gtC/gtT 0 -ICAM3 UCSF GRCh37 19 10445447 10445447 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 32 84 0 ENST00000160262.5:c.949C>T p.Pro317Ser p.P317S ENST00000160262 NM_002162.3 317 Ccc/Tcc 0 -ICMT UCSF GRCh37 1 6292032 6292032 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 64 154 0 ENST00000343813.5:c.602C>T p.Thr201Ile p.T201I ENST00000343813 NM_012405.3 201 aCc/aTc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 79 72 125 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IDO1 UCSF GRCh37 8 39775667 39775667 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 133 112 192 0 ENST00000518237.1:c.244G>A p.Val82Ile p.V82I ENST00000518237 NM_002164.5 82 Gtt/Att 0 -IFFO2 UCSF GRCh37 1 19235148 19235148 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 31 85 0 ENST00000455833.2:c.1461C>T p.Ser487= p.S487= ENST00000455833 NM_001136265.1 487 tcC/tcT 0 -IFI27L1 UCSF GRCh37 14 94568225 94568225 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 35 68 0 ENST00000393115.3:c.127G>A p.Ala43Thr p.A43T ENST00000393115 NM_145249.2 43 Gca/Aca 0 -IFIH1 UCSF GRCh37 2 163144827 163144827 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 56 119 0 ENST00000263642.2:c.913G>A p.Glu305Lys p.E305K ENST00000263642 NM_022168.3 305 Gaa/Aaa 0 -IFIT3 UCSF GRCh37 10 91098440 91098440 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 47 131 1 ENST00000371811.4:c.28G>A p.Glu10Lys p.E10K ENST00000371811 NM_001031683.2 10 Gag/Aag 0 -IFITM1 UCSF GRCh37 11 314971 314971 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 44 132 0 ENST00000328221.5:c.236C>T p.Ala79Val p.A79V ENST00000328221 79 gCc/gTc 0 -IFNAR2 UCSF GRCh37 21 34635734 34635734 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 96 166 0 ENST00000342136.4:c.1477G>A p.Asp493Asn p.D493N ENST00000342136 493 Gat/Aat 0 -IFNGR1 UCSF GRCh37 6 137519586 137519586 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 60 156 0 ENST00000367739.4:c.1052G>A p.Ser351Asn p.S351N ENST00000367739 NM_000416.2 351 aGt/aAt 0 -IFT122 UCSF GRCh37 3 129202342 129202342 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 52 117 0 ENST00000348417.2:c.1668C>T p.Asn556= p.N556= ENST00000348417 NM_052989.2 556 aaC/aaT 0 -IFT140 UCSF GRCh37 16 1614105 1614105 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 38 99 0 ENST00000426508.2:c.1960G>A p.Asp654Asn p.D654N ENST00000426508 NM_014714.3 654 Gac/Aac 0 -IFT172 UCSF GRCh37 2 27677249 27677249 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 79 152 0 ENST00000260570.3:c.3502G>A p.Ala1168Thr p.A1168T ENST00000260570 NM_015662.1 1168 Gct/Act 0 -IGSF6 UCSF GRCh37 16 21658659 21658659 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 70 133 0 ENST00000268389.4:c.222G>A p.Gln74= p.Q74= ENST00000268389 NM_005849.3 74 caG/caA 0 -IGSF8 UCSF GRCh37 1 160065004 160065004 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 35 63 0 ENST00000314485.7:c.97C>T p.Pro33Ser p.P33S ENST00000314485 NM_052868.4 33 Ccc/Tcc 0 -IKBKE UCSF GRCh37 1 206664992 206664992 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 50 109 0 ENST00000367120.3:c.1745G>A p.Ser582Asn p.S582N ENST00000367120 NM_014002.3 582 aGt/aAt 0 -IKBKG UCSF GRCh37 X 153780245 153780245 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 83 170 0 ENST00000369609.5:c.232C>T p.Leu78= p.L78= ENST00000369609 NM_001099856.2 78 Ctg/Ttg 0 -IKZF5 UCSF GRCh37 10 124753348 124753349 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 0 ENST00000368886.5:c.1208dup p.Asn403LysfsTer4 p.N403Kfs*4 ENST00000368886 NM_001271840.1 403 aac/aAac 0 -IL11RA UCSF GRCh37 9 34657129 34657129 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 75 122 0 ENST00000318041.9:c.429C>T p.Arg143= p.R143= ENST00000318041 143 cgC/cgT 0 -IL12RB2 UCSF GRCh37 1 67794023 67794023 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 101 123 212 0 ENST00000262345.1:c.620G>A p.Gly207Glu p.G207E ENST00000262345 NM_001559.2 207 gGa/gAa 0 -IL17RC UCSF GRCh37 3 9974353 9974353 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 43 103 1 ENST00000295981.3:c.1662C>T p.Ser554= p.S554= ENST00000295981 NM_153461.3 554 tcC/tcT 0 -IL17RD UCSF GRCh37 3 57136581 57136581 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 55 94 0 ENST00000296318.7:c.905C>T p.Ala302Val p.A302V ENST00000296318 NM_017563.3 302 gCc/gTc 0 -IL18RAP UCSF GRCh37 2 103068538 103068538 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 100 239 0 ENST00000264260.2:c.1697G>A p.Gly566Glu p.G566E ENST00000264260 NM_003853.2 566 gGa/gAa 0 -IL1A UCSF GRCh37 2 113537213 113537213 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 66 142 0 ENST00000263339.3:c.350G>A p.Ser117Asn p.S117N ENST00000263339 NM_000575.3 117 aGc/aAc 0 -IL1RAP UCSF GRCh37 3 190326971 190326971 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 46 113 0 ENST00000072516.3:c.537+1G>A p.X179_splice ENST00000072516 NM_001167929.1 0 -IL1RAPL2 UCSF GRCh37 X 104993017 104993017 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 87 77 180 0 ENST00000372582.1:c.1113G>A p.Leu371= p.L371= ENST00000372582 NM_017416.1 371 ctG/ctA 0 -IL1RL2 UCSF GRCh37 2 102804367 102804367 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 38 73 0 ENST00000264257.2:c.40C>T p.Pro14Ser p.P14S ENST00000264257 NM_003854.2 14 Cca/Tca 0 -IL21R UCSF GRCh37 16 27448847 27448847 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 53 85 0 ENST00000337929.3:c.191C>T p.Ser64Phe p.S64F ENST00000337929 NM_181078.2 64 tCc/tTc 0 -IL21R UCSF GRCh37 16 27457348 27457348 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 20 61 0 ENST00000337929.3:c.806C>T p.Ala269Val p.A269V ENST00000337929 NM_181078.2 269 gCc/gTc 0 -IL21R UCSF GRCh37 16 27460404 27460404 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 42 57 0 ENST00000337929.3:c.1417G>A p.Val473Ile p.V473I ENST00000337929 NM_181078.2 473 Gtc/Atc 0 -IL23R UCSF GRCh37 1 67724311 67724311 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 101 206 0 ENST00000347310.5:c.1390C>T p.Pro464Ser p.P464S ENST00000347310 NM_144701.2 464 Ccg/Tcg 0 -IL24 UCSF GRCh37 1 207072856 207072856 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 46 112 0 ENST00000294984.2:c.236C>T p.Thr79Ile p.T79I ENST00000294984 NM_006850.3 79 aCt/aTt 0 -IL29 UCSF GRCh37 19 39787105 39787105 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 51 101 0 ENST00000333625.2:c.44G>A p.Gly15Asp p.G15D ENST00000333625 NM_172140.1 15 gGc/gAc 0 -IL2RG UCSF GRCh37 X 70330757 70330757 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 10 56 0 ENST00000374202.2:c.259C>T p.Leu87= p.L87= ENST00000374202 NM_000206.2 87 Ctg/Ttg 0 -IL4R UCSF GRCh37 16 27374306 27374306 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 65 100 0 ENST00000395762.2:c.1633C>T p.Pro545Ser p.P545S ENST00000395762 NM_000418.3 545 Cct/Tct 0 -ILDR1 UCSF GRCh37 3 121713086 121713086 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 34 56 0 ENST00000344209.5:c.721G>A p.Gly241Arg p.G241R ENST00000344209 NM_001199799.1 241 Ggg/Agg 0 -ILF3 UCSF GRCh37 19 10781781 10781781 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 33 76 0 ENST00000590261.1:c.135G>A p.Val45= p.V45= ENST00000590261 45 gtG/gtA 0 -IMP5 UCSF GRCh37 17 43923859 43923859 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 41 106 0 ENST00000329196.5:c.1587G>A p.Gln529= p.Q529= ENST00000329196 NM_175882.2 529 caG/caA 0 -INADL UCSF GRCh37 1 62579725 62579725 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 39 89 0 ENST00000371158.2:c.4462G>A p.Val1488Ile p.V1488I ENST00000371158 NM_176877.2 1488 Gtt/Att 0 -ING1 UCSF GRCh37 13 111371609 111371609 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 4 32 86 0 ENST00000375774.3:c.599G>A p.Arg200His p.R200H ENST00000375774 NM_005537.4 200 cGc/cAc 0 -INPP4A UCSF GRCh37 2 99152264 99152264 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 133 108 231 0 ENST00000074304.5:c.343G>A p.Val115Ile p.V115I ENST00000074304 NM_001134224.1 115 Gtc/Atc 0 -INPP5E UCSF GRCh37 9 139333207 139333207 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 11 29 0 ENST00000371712.3:c.665G>A p.Arg222His p.R222H ENST00000371712 NM_019892.4 222 cGc/cAc 0 -INSR UCSF GRCh37 19 7117094 7117094 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 80 149 0 ENST00000302850.5:c.4122G>A p.Leu1374= p.L1374= ENST00000302850 NM_000208.2 1374 ctG/ctA 0 -INSRR UCSF GRCh37 1 156814407 156814407 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 49 85 0 ENST00000368195.3:c.2584G>A p.Val862Met p.V862M ENST00000368195 NM_014215.2 862 Gtg/Atg 0 -INTS10 UCSF GRCh37 8 19703296 19703296 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 43 87 0 ENST00000397977.3:c.1964G>A p.Gly655Glu p.G655E ENST00000397977 NM_018142.2 655 gGa/gAa 0 -INTS3 UCSF GRCh37 1 153745692 153745692 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 130 107 211 0 ENST00000318967.2:c.3075G>A p.Lys1025= p.K1025= ENST00000318967 NM_023015.3 1025 aaG/aaA 0 -INTS5 UCSF GRCh37 11 62416972 62416972 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 76 123 0 ENST00000330574.2:c.580G>A p.Val194Met p.V194M ENST00000330574 NM_030628.1 194 Gtg/Atg 0 -INTS7 UCSF GRCh37 1 212180717 212180717 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 55 121 0 ENST00000366994.3:c.631G>A p.Ala211Thr p.A211T ENST00000366994 NM_001199811.1 211 Gct/Act 0 -INTS8 UCSF GRCh37 8 95877891 95877891 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 404 109 238 0 ENST00000523731.1:c.2234G>A p.Arg745Lys p.R745K ENST00000523731 NM_017864.3 745 aGg/aAg 0 -INTU UCSF GRCh37 4 128565143 128565143 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 83 176 0 ENST00000335251.6:c.614G>A p.Gly205Glu p.G205E ENST00000335251 NM_015693.3 205 gGa/gAa 0 -INTU UCSF GRCh37 4 128564907 128564907 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 99 78 178 0 ENST00000335251.6:c.378G>A p.Lys126= p.K126= ENST00000335251 NM_015693.3 126 aaG/aaA 0 -INTU UCSF GRCh37 4 128628070 128628070 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 124 101 230 0 ENST00000335251.6:c.2217G>A p.Lys739= p.K739= ENST00000335251 NM_015693.3 739 aaG/aaA 0 -IP6K3 UCSF GRCh37 6 33695944 33695944 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 39 47 0 ENST00000293756.4:c.333G>A p.Gln111= p.Q111= ENST00000293756 NM_054111.4 111 caG/caA 0 -IPCEF1 UCSF GRCh37 6 154533945 154533945 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 23 85 0 ENST00000265198.4:c.493G>A p.Glu165Lys p.E165K ENST00000265198 NM_015553.2 165 Gag/Aag 0 -IPO8 UCSF GRCh37 12 30787141 30787141 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 69 163 0 ENST00000256079.4:c.2775G>A p.Glu925= p.E925= ENST00000256079 NM_006390.3 925 gaG/gaA 0 -IQCH UCSF GRCh37 15 67636400 67636400 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 52 125 0 ENST00000335894.4:c.509-1G>A p.X170_splice ENST00000335894 NM_001031715.2 0 -IQGAP1 UCSF GRCh37 15 91017362 91017362 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 47 114 0 ENST00000268182.5:c.2572C>T p.Leu858Phe p.L858F ENST00000268182 NM_003870.3 858 Ctc/Ttc 0 -IQGAP1 UCSF GRCh37 15 91017182 91017182 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 68 173 0 ENST00000268182.5:c.2488C>T p.Gln830Ter p.Q830* ENST00000268182 NM_003870.3 830 Cag/Tag 0 -IQSEC2 UCSF GRCh37 X 53279582 53279582 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 45 96 0 ENST00000396435.3:c.2176G>A p.Ala726Thr p.A726T ENST00000396435 NM_001111125.2 726 Gct/Act 0 -IQSEC2 UCSF GRCh37 X 53279927 53279927 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 14 26 0 ENST00000396435.3:c.1831G>A p.Asp611Asn p.D611N ENST00000396435 NM_001111125.2 611 Gat/Aat 0 -IRF5 UCSF GRCh37 7 128588798 128588798 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 57 115 0 ENST00000249375.4:c.1423G>A p.Ala475Thr p.A475T ENST00000249375 NM_032643.3 475 Gcc/Acc 0 -IRS1 UCSF GRCh37 2 227663202 227663202 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 73 121 0 ENST00000305123.5:c.253G>A p.Ala85Thr p.A85T ENST00000305123 NM_005544.2 85 Gct/Act 0 -IRX3 UCSF GRCh37 16 54319241 54319241 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 52 89 0 ENST00000329734.3:c.552C>T p.Arg184= p.R184= ENST00000329734 NM_024336.2 184 cgC/cgT 0 -ISLR UCSF GRCh37 15 74468085 74468085 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 42 87 0 ENST00000249842.3:c.886C>T p.Pro296Ser p.P296S ENST00000249842 NM_005545.3 296 Cct/Tct 0 -ITGA2 UCSF GRCh37 5 52377511 52377511 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 31 70 0 ENST00000296585.5:c.3129G>A p.Arg1043= p.R1043= ENST00000296585 NM_002203.3 1043 agG/agA 0 -ITGA2B UCSF GRCh37 17 42466653 42466653 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 99 195 0 ENST00000262407.5:c.188+1G>A p.X63_splice ENST00000262407 NM_000419.3 0 -ITGA6 UCSF GRCh37 2 173338860 173338860 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 41 112 0 ENST00000442250.1:c.970C>T p.His324Tyr p.H324Y ENST00000442250 324 Cac/Tac 0 -ITGA6 UCSF GRCh37 2 173292620 173292620 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 13 45 0 ENST00000442250.1:c.104G>A p.Arg35Gln p.R35Q ENST00000442250 35 cGg/cAg 0 -ITGA8 UCSF GRCh37 10 15573138 15573138 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 130 67 140 0 ENST00000378076.3:c.2893C>T p.Pro965Ser p.P965S ENST00000378076 NM_003638.1 965 Ccc/Tcc 0 -ITGAD UCSF GRCh37 16 31409192 31409192 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 8 26 1 ENST00000389202.2:c.389G>A p.Arg130His p.R130H ENST00000389202 NM_005353.2 130 cGc/cAc 0 -ITGB3 UCSF GRCh37 17 45376743 45376743 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 54 108 0 ENST00000559488.1:c.1760C>T p.Thr587Ile p.T587I ENST00000559488 NM_000212.2 587 aCc/aTc 0 -ITGB3 UCSF GRCh37 17 45369919 45369919 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 55 130 0 ENST00000559488.1:c.1675G>A p.Gly559Arg p.G559R ENST00000559488 NM_000212.2 559 Ggg/Agg 0 -ITIH5 UCSF GRCh37 10 7683969 7683969 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 199 92 185 0 ENST00000256861.6:c.220C>T p.Leu74= p.L74= ENST00000256861 NM_030569.6 74 Ctg/Ttg 0 -ITPK1 UCSF GRCh37 14 93418312 93418312 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 8 17 0 ENST00000267615.6:c.717G>A p.Glu239= p.E239= ENST00000267615 239 gaG/gaA 0 -ITPR1 UCSF GRCh37 3 4725105 4725105 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 140 106 227 0 ENST00000354582.6:c.3197G>A p.Gly1066Asp p.G1066D ENST00000354582 1066 gGc/gAc 0 -ITPR2 UCSF GRCh37 12 26775262 26775262 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 46 116 0 ENST00000381340.3:c.3199C>T p.His1067Tyr p.H1067Y ENST00000381340 NM_002223.2 1067 Cac/Tac 0 -ITPR3 UCSF GRCh37 6 33639817 33639817 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 38 106 0 ENST00000374316.5:c.2740C>T p.Arg914Trp p.R914W ENST00000374316 914 Cgg/Tgg 0 -ITPR3 UCSF GRCh37 6 33646227 33646227 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 21 64 0 ENST00000374316.5:c.3678C>T p.Arg1226= p.R1226= ENST00000374316 1226 cgC/cgT 0 -ITPRIP UCSF GRCh37 10 106074458 106074458 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 37 86 0 ENST00000278071.2:c.1352C>T p.Ala451Val p.A451V ENST00000278071 NM_033397.3 451 gCg/gTg 0 -ITPRIPL1 UCSF GRCh37 2 96993035 96993035 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 54 125 0 ENST00000439118.2:c.666C>T p.Ala222= p.A222= ENST00000439118 NM_001008949.2 222 gcC/gcT 0 -IVNS1ABP UCSF GRCh37 1 185276206 185276206 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 59 163 0 ENST00000367498.3:c.597C>T p.Ile199= p.I199= ENST00000367498 NM_006469.4 199 atC/atT 0 -JHDM1D UCSF GRCh37 7 139829311 139829311 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 64 133 0 ENST00000397560.2:c.541G>A p.Asp181Asn p.D181N ENST00000397560 NM_030647.1 181 Gat/Aat 0 -JMJD1C UCSF GRCh37 10 64974231 64974231 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 83 159 0 ENST00000399262.2:c.1696G>A p.Val566Ile p.V566I ENST00000399262 NM_032776.1 566 Gtc/Atc 0 -JPH2 UCSF GRCh37 20 42744429 42744429 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 20 56 0 ENST00000372980.3:c.1886C>T p.Pro629Leu p.P629L ENST00000372980 NM_020433.4 629 cCc/cTc 0 -JPH3 UCSF GRCh37 16 87677922 87677922 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 11 84 0 ENST00000284262.2:c.441C>T p.Ser147= p.S147= ENST00000284262 NM_020655.3 147 agC/agT 0 -JRK UCSF GRCh37 8 143740347 143740347 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 20 64 0 ENST00000507178.2:n.7464G>A *2488* ENST00000507178 0 -KALRN UCSF GRCh37 3 124418823 124418823 + upstream_gene_variant 5'Flank SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 85 200 0 ENST00000584173 0 -KALRN UCSF GRCh37 3 124117637 124117637 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 64 131 0 ENST00000240874.3:c.2259G>A p.Gln753= p.Q753= ENST00000240874 NM_003947.4 753 caG/caA 0 -KANK3 UCSF GRCh37 19 8398051 8398051 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 10 29 0 ENST00000593649.1:c.1783G>A p.Glu595Lys p.E595K ENST00000593649 595 Gag/Aag 0 -KBTBD4 UCSF GRCh37 11 47598997 47598997 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 76 149 0 ENST00000395288.2:c.555C>T p.His185= p.H185= ENST00000395288 NM_016506.5 185 caC/caT 0 -KCNA3 UCSF GRCh37 1 111216551 111216551 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 47 118 0 ENST00000369769.2:c.881C>T p.Pro294Leu p.P294L ENST00000369769 NM_002232.3 294 cCc/cTc 0 -KCNC1 UCSF GRCh37 11 17757750 17757750 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 27 70 0 ENST00000379472.3:c.201C>T p.Ile67= p.I67= ENST00000379472 NM_004976.4 67 atC/atT 0 -KCNH4 UCSF GRCh37 17 40318550 40318550 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 34 83 0 ENST00000264661.3:c.1605C>T p.Phe535= p.F535= ENST00000264661 NM_012285.2 535 ttC/ttT 0 -KCNH5 UCSF GRCh37 14 63246594 63246594 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 58 116 0 ENST00000322893.7:c.1871C>T p.Ala624Val p.A624V ENST00000322893 NM_139318.4 624 gCc/gTc 0 -KCNH7 UCSF GRCh37 2 163291967 163291967 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 93 183 0 ENST00000332142.5:c.1695G>A p.Trp565Ter p.W565* ENST00000332142 NM_033272.3 565 tgG/tgA 0 -KCNJ12 UCSF GRCh37 17 21319253 21319253 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 31 108 0 ENST00000331718.5:c.599C>T p.Ala200Val p.A200V ENST00000331718 NM_001194958.2 200 gCc/gTc 0 -KCNJ15 UCSF GRCh37 21 39671694 39671694 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 61 118 0 ENST00000328656.4:c.511C>T p.Pro171Ser p.P171S ENST00000328656 NM_002243.4 171 Ccc/Tcc 0 -KCNK16 UCSF GRCh37 6 39285631 39285631 + synonymous_variant Silent SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 22 28 59 0 ENST00000373229.5:c.426C>T p.His142= p.H142= ENST00000373229 NM_032115.3 142 caC/caT 0 -KCNK16 UCSF GRCh37 6 39282934 39282934 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 47 89 0 ENST00000373229.5:c.803-29C>T *268* ENST00000373229 NM_032115.3 0 -KCNN1 UCSF GRCh37 19 18084790 18084790 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 16 25 0 ENST00000222249.9:c.93C>T p.Gly31= p.G31= ENST00000222249 NM_002248.4 31 ggC/ggT 0 -KCNN3 UCSF GRCh37 1 154842381 154842381 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 12 24 0 ENST00000271915.4:c.60G>A p.Lys20= p.K20= ENST00000271915 NM_001204087.1 20 aaG/aaA 0 -KCNN4 UCSF GRCh37 19 44278504 44278504 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 10 20 0 ENST00000262888.3:c.523C>T p.Leu175Phe p.L175F ENST00000262888 NM_002250.2 175 Ctc/Ttc 0 -KCNQ1 UCSF GRCh37 11 2591913 2591913 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 0 27 53 0 ENST00000155840.5:c.533C>T p.Ala178Val p.A178V ENST00000155840 NM_000218.2 178 gCc/gTc 0 -KCNQ3 UCSF GRCh37 8 133182671 133182671 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 159 30 102 0 ENST00000388996.4:c.1145C>T p.Ala382Val p.A382V ENST00000388996 NM_004519.3 382 gCc/gTc 0 -KCNQ4 UCSF GRCh37 1 41298711 41298711 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 47 100 1 ENST00000347132.5:c.1539G>A p.Glu513= p.E513= ENST00000347132 NM_004700.3 513 gaG/gaA 0 -KCNS1 UCSF GRCh37 20 43726423 43726423 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 17 44 0 ENST00000306117.1:c.990C>T p.Gly330= p.G330= ENST00000306117 NM_002251.3 330 ggC/ggT 0 -KCNS3 UCSF GRCh37 2 18112819 18112819 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 58 142 0 ENST00000304101.4:c.544C>T p.Leu182= p.L182= ENST00000304101 NM_002252.3 182 Ctg/Ttg 0 -KCNT1 UCSF GRCh37 9 138646990 138646990 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 15 38 0 ENST00000488444.2:c.458G>A p.Arg153Lys p.R153K ENST00000488444 153 aGa/aAa 0 -KCNV1 UCSF GRCh37 8 110980478 110980478 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 198 68 161 0 ENST00000297404.1:c.1342C>T p.Arg448Cys p.R448C ENST00000297404 NM_014379.2 448 Cgt/Tgt 0 -KCNV2 UCSF GRCh37 9 2717784 2717784 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 50 109 0 ENST00000382082.3:c.45C>T p.Pro15= p.P15= ENST00000382082 NM_133497.3 15 ccC/ccT 0 -KCTD9 UCSF GRCh37 8 25303750 25303750 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 86 157 1 ENST00000221200.4:c.65G>A p.Gly22Glu p.G22E ENST00000221200 NM_017634.3 22 gGa/gAa 0 -KDM5A UCSF GRCh37 12 430192 430192 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 106 204 0 ENST00000399788.2:c.2510C>T p.Pro837Leu p.P837L ENST00000399788 NM_001042603.1 837 cCg/cTg 0 -KDM5A UCSF GRCh37 12 443525 443525 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 130 89 233 0 ENST00000399788.2:c.1372C>T p.His458Tyr p.H458Y ENST00000399788 NM_001042603.1 458 Cat/Tat 0 -KDM5C UCSF GRCh37 X 53222334 53222334 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 25 45 0 ENST00000375401.3:c.4498G>A p.Glu1500Lys p.E1500K ENST00000375401 NM_004187.3 1500 Gag/Aag 0 -BLTP2 UCSF GRCh37 17 26965374 26965374 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 61 123 0 ENST00000528896.2:c.1408C>T p.Leu470Phe p.L470F ENST00000528896 NM_014680.3 470 Ctc/Ttc 0 -BLTP2 UCSF GRCh37 17 26948142 26948142 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 68 159 0 ENST00000528896.2:c.5106G>A p.Arg1702= p.R1702= ENST00000528896 NM_014680.3 1702 cgG/cgA 0 -KIAA0182 UCSF GRCh37 16 85687940 85687940 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 16 45 0 ENST00000253458.7:c.483G>A p.Pro161= p.P161= ENST00000253458 NM_014615.3 161 ccG/ccA 0 -KIAA0247 UCSF GRCh37 14 70175407 70175407 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 51 108 0 ENST00000342745.4:c.472G>A p.Val158Ile p.V158I ENST00000342745 NM_014734.3 158 Gta/Ata 0 -KIAA0415 UCSF GRCh37 7 4827833 4827833 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 8 13 0 ENST00000348624.4:c.1503G>A p.Arg501= p.R501= ENST00000348624 NM_014855.2 501 agG/agA 0 -KIAA0907 UCSF GRCh37 1 155884103 155884103 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 36 69 0 ENST00000368321.3:c.1654G>A p.Ala552Thr p.A552T ENST00000368321 NM_014949.2 552 Gcc/Acc 0 -KIAA0922 UCSF GRCh37 4 154512343 154512343 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 68 167 0 ENST00000409663.3:c.1806G>A p.Arg602= p.R602= ENST00000409663 NM_015196.3 602 agG/agA 0 -KIAA0947 UCSF GRCh37 5 5443358 5443358 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 21 83 0 ENST00000296564.7:c.386+1G>A p.X129_splice ENST00000296564 NM_015325.2 0 -KIAA0947 UCSF GRCh37 5 5461667 5461667 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 142 128 226 0 ENST00000296564.7:c.2220G>A p.Arg740= p.R740= ENST00000296564 NM_015325.2 740 cgG/cgA 0 -KIAA1024 UCSF GRCh37 15 79750717 79750717 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 84 160 0 ENST00000305428.3:c.2228G>A p.Gly743Asp p.G743D ENST00000305428 NM_015206.2 743 gGc/gAc 0 -BTBD8 UCSF GRCh37 1 92646067 92646067 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 72 186 0 ENST00000370378.4:c.1513C>T p.Pro505Ser p.P505S ENST00000370378 NM_015237.2 505 Cct/Tct 0 -KIAA1161 UCSF GRCh37 9 34372612 34372612 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 16 25 0 ENST00000297625.7:c.228C>T p.Val76= p.V76= ENST00000297625 NM_020702.3 76 gtC/gtT 0 -KIAA1210 UCSF GRCh37 X 118220604 118220604 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 113 189 0 ENST00000402510.2:c.4589G>A p.Gly1530Glu p.G1530E ENST00000402510 NM_020721.1 1530 gGg/gAg 0 -KIAA1217 UCSF GRCh37 10 24508627 24508627 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 54 148 0 ENST00000376454.3:c.143C>T p.Ser48Phe p.S48F ENST00000376454 NM_019590.3 48 tCt/tTt 0 -KIAA1239 UCSF GRCh37 4 37445481 37445481 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 123 121 196 0 ENST00000309447.5:c.1871G>A p.Arg624Lys p.R624K ENST00000309447 NM_001144990.1 624 aGa/aAa 0 -KIAA1310 UCSF GRCh37 2 97279305 97279305 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 130 115 207 0 ENST00000431828.1:c.715G>A p.Ala239Thr p.A239T ENST00000431828 239 Gct/Act 0 -KIAA1462 UCSF GRCh37 10 30336638 30336638 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 144 68 112 0 ENST00000375377.1:c.104C>T p.Thr35Ile p.T35I ENST00000375377 NM_020848.2 35 aCt/aTt 0 -KIAA1522 UCSF GRCh37 1 33236702 33236702 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 52 86 0 ENST00000373480.1:c.1745C>T p.Ala582Val p.A582V ENST00000373480 NM_001198972.1 582 gCc/gTc 0 -KIAA1524 UCSF GRCh37 3 108276236 108276236 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 63 91 0 ENST00000295746.8:c.2039G>A p.Arg680Lys p.R680K ENST00000295746 NM_020890.2 680 aGa/aAa 0 -KIAA1598 UCSF GRCh37 10 118666174 118666174 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 161 62 236 0 ENST00000355371.4:c.1444C>T p.Arg482Cys p.R482C ENST00000355371 NM_001258299.1 482 Cgt/Tgt 0 -KIAA1609 UCSF GRCh37 16 84520414 84520414 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 56 98 0 ENST00000343629.6:c.781G>A p.Glu261Lys p.E261K ENST00000343629 NM_020947.3 261 Gag/Aag 0 -KIAA1614 UCSF GRCh37 1 180885831 180885831 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 68 97 0 ENST00000367588.4:c.592G>A p.Asp198Asn p.D198N ENST00000367588 NM_020950.1 198 Gac/Aac 0 -KIAA1644 UCSF GRCh37 22 44692584 44692584 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 73 140 0 ENST00000381176.4:c.249C>T p.Asn83= p.N83= ENST00000381176 NM_001099294.1 83 aaC/aaT 0 -KIAA1683 UCSF GRCh37 19 18377737 18377737 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 39 32 58 0 ENST00000600328.3:c.613C>T p.Pro205Ser p.P205S ENST00000600328 205 Ccc/Tcc 0 -KIAA1751 UCSF GRCh37 1 1918471 1918471 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 37 75 0 ENST00000270720.7:n.456G>A *152* ENST00000270720 0 -KIAA1755 UCSF GRCh37 20 36841641 36841641 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 27 57 0 ENST00000279024.4:c.3406G>A p.Ala1136Thr p.A1136T ENST00000279024 NM_001029864.1 1136 Gct/Act 0 -KIAA1755 UCSF GRCh37 20 36870139 36870139 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 74 154 0 ENST00000279024.4:c.394G>A p.Asp132Asn p.D132N ENST00000279024 NM_001029864.1 132 Gac/Aac 0 -KIAA1984 UCSF GRCh37 9 139693644 139693644 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 11 52 0 ENST00000338005.6:c.161G>A p.Arg54His p.R54H ENST00000338005 NM_001039374.4 54 cGc/cAc 0 -KIAA1984 UCSF GRCh37 9 139701056 139701056 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 125 66 75 0 ENST00000338005.6:c.1210C>T p.Leu404= p.L404= ENST00000338005 NM_001039374.4 404 Ctg/Ttg 0 -KIAA2022 UCSF GRCh37 X 73962350 73962350 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 46 114 0 ENST00000055682.6:c.2042G>A p.Gly681Asp p.G681D ENST00000055682 NM_001008537.2 681 gGt/gAt 0 -KIDINS220 UCSF GRCh37 2 8916981 8916981 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 70 136 0 ENST00000256707.3:c.2745C>T p.Arg915= p.R915= ENST00000256707 NM_020738.2 915 cgC/cgT 0 -KIF14 UCSF GRCh37 1 200587142 200587142 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 115 113 229 0 ENST00000367350.4:c.710C>T p.Thr237Met p.T237M ENST00000367350 NM_014875.2 237 aCg/aTg 0 -KIF14 UCSF GRCh37 1 200549469 200549469 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 50 130 0 ENST00000367350.4:c.3378G>A p.Arg1126= p.R1126= ENST00000367350 NM_014875.2 1126 cgG/cgA 0 -KIF14 UCSF GRCh37 1 200572392 200572392 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 75 182 0 ENST00000367350.4:c.1941G>A p.Arg647= p.R647= ENST00000367350 NM_014875.2 647 agG/agA 0 -KIF18B UCSF GRCh37 17 43012728 43012728 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 35 69 0 ENST00000593135.1:c.370G>A p.Gly124Arg p.G124R ENST00000593135 NM_001265577.1 124 Ggg/Agg 0 -KIF19 UCSF GRCh37 17 72350339 72350339 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 59 74 0 ENST00000389916.4:c.2347G>A p.Val783Met p.V783M ENST00000389916 NM_153209.3 783 Gtg/Atg 0 -KIF1B UCSF GRCh37 1 10384913 10384913 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 76 162 0 ENST00000377086.1:c.2635C>T p.Pro879Ser p.P879S ENST00000377086 879 Ccc/Tcc 0 -KIF1C UCSF GRCh37 17 4910581 4910581 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 22 32 0 ENST00000320785.5:c.1359G>A p.Glu453= p.E453= ENST00000320785 NM_006612.5 453 gaG/gaA 0 -KIF20B UCSF GRCh37 10 91477410 91477410 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 71 193 0 ENST00000371728.3:c.1202G>A p.Gly401Glu p.G401E ENST00000371728 NM_001284259.1 401 gGg/gAg 0 -KIF25 UCSF GRCh37 6 168445564 168445564 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 53 122 0 ENST00000354419.2:c.1043C>T p.Ala348Val p.A348V ENST00000354419 NM_030615.2 348 gCa/gTa 0 -KIF26B UCSF GRCh37 1 245850229 245850229 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 55 85 0 ENST00000407071.2:c.3944C>T p.Ala1315Val p.A1315V ENST00000407071 NM_018012.3 1315 gCc/gTc 0 -KIF27 UCSF GRCh37 9 86495271 86495271 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 358 125 352 0 ENST00000297814.2:c.2584G>A p.Glu862Lys p.E862K ENST00000297814 NM_017576.2 862 Gaa/Aaa 0 -KIF4B UCSF GRCh37 5 154393942 154393942 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 128 102 252 0 ENST00000435029.4:c.523G>A p.Gly175Arg p.G175R ENST00000435029 NM_001099293.1 175 Gga/Aga 0 -KIF4B UCSF GRCh37 5 154396999 154396999 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 52 142 0 ENST00000435029.4:c.3580G>A p.Glu1194Lys p.E1194K ENST00000435029 NM_001099293.1 1194 Gag/Aag 0 -KIF6 UCSF GRCh37 6 39507857 39507857 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 140 105 193 0 ENST00000287152.7:c.1567C>T p.Arg523Ter p.R523* ENST00000287152 NM_145027.4 523 Cga/Tga 0 -KIF7 UCSF GRCh37 15 90188645 90188645 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 39 54 0 ENST00000394412.3:c.1960C>T p.Arg654Cys p.R654C ENST00000394412 NM_198525.2 654 Cgc/Tgc 0 -KIRREL3 UCSF GRCh37 11 126870381 126870381 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 11 36 0 ENST00000525144.2:c.25C>T p.Leu9Phe p.L9F ENST00000525144 NM_032531.3 9 Ctc/Ttc 0 -KIRREL3 UCSF GRCh37 11 126294874 126294874 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 15 38 0 ENST00000525144.2:c.1938C>T p.His646= p.H646= ENST00000525144 NM_032531.3 646 caC/caT 0 -KL UCSF GRCh37 13 33591182 33591182 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 15 16 0 ENST00000380099.3:c.604G>A p.Asp202Asn p.D202N ENST00000380099 NM_004795.3 202 Gac/Aac 0 -KL UCSF GRCh37 13 33635449 33635449 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 54 171 0 ENST00000380099.3:c.2233G>A p.Asp745Asn p.D745N ENST00000380099 NM_004795.3 745 Gac/Aac 0 -KLB UCSF GRCh37 4 39450107 39450107 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 72 164 0 ENST00000257408.4:c.2936C>T p.Thr979Ile p.T979I ENST00000257408 NM_175737.3 979 aCc/aTc 0 -KLB UCSF GRCh37 4 39436095 39436095 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 97 172 0 ENST00000257408.4:c.1091G>A p.Arg364Lys p.R364K ENST00000257408 NM_175737.3 364 aGa/aAa 0 -KLC1 UCSF GRCh37 14 104129146 104129146 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 49 75 0 ENST00000348520.6:c.679G>A p.Gly227Arg p.G227R ENST00000348520 NM_182923.3 227 Ggg/Agg 0 -KLC2 UCSF GRCh37 11 66026132 66026132 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 22 86 0 ENST00000316924.5:c.67G>A p.Ala23Thr p.A23T ENST00000316924 NM_022822.2 23 Gct/Act 0 -KLF15 UCSF GRCh37 3 126071339 126071339 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 36 71 0 ENST00000296233.3:c.427G>A p.Glu143Lys p.E143K ENST00000296233 NM_014079.3 143 Gag/Aag 0 -KLHL1 UCSF GRCh37 13 70549775 70549775 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 5 76 194 0 ENST00000377844.4:c.657G>A p.Gly219= p.G219= ENST00000377844 NM_020866.2 219 ggG/ggA 0 -KLHL11 UCSF GRCh37 17 40010205 40010205 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 113 161 0 ENST00000319121.3:c.1914G>A p.Arg638= p.R638= ENST00000319121 NM_018143.1 638 agG/agA 0 -KLHL13 UCSF GRCh37 X 117044028 117044028 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 64 143 0 ENST00000262820.3:c.602G>A p.Arg201Gln p.R201Q ENST00000262820 NM_033495.3 201 cGg/cAg 0 -KLHL21 UCSF GRCh37 1 6659327 6659327 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 28 56 0 ENST00000377658.4:c.1207G>A p.Glu403Lys p.E403K ENST00000377658 NM_014851.2 403 Gag/Aag 0 -KLHL3 UCSF GRCh37 5 136974757 136974757 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 25 62 0 ENST00000309755.4:c.1104C>T p.Asp368= p.D368= ENST00000309755 NM_017415.2 368 gaC/gaT 0 -KLHL30 UCSF GRCh37 2 239056482 239056482 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 18 43 0 ENST00000409223.1:c.1158C>T p.Thr386= p.T386= ENST00000409223 386 acC/acT 0 -KLHL33 UCSF GRCh37 14 20897381 20897381 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 21 51 0 ENST00000344581.4:c.1229G>A p.Gly410Asp p.G410D ENST00000344581 NM_001109997.2 410 gGc/gAc 0 -KLHL8 UCSF GRCh37 4 88106778 88106778 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 74 153 0 ENST00000273963.5:c.390C>T p.Leu130= p.L130= ENST00000273963 NM_020803.3 130 ctC/ctT 0 -KLK13 UCSF GRCh37 19 51563773 51563773 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 39 113 0 ENST00000595793.1:c.156C>T p.Ala52= p.A52= ENST00000595793 NM_015596.1 52 gcC/gcT 0 -KLK4 UCSF GRCh37 19 51411834 51411834 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 57 129 0 ENST00000324041.1:c.475+1G>A p.X159_splice ENST00000324041 NM_004917.3 0 -KLK8 UCSF GRCh37 19 51501085 51501085 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 51 142 1 ENST00000600767.1:c.549G>A p.Lys183= p.K183= ENST00000600767 183 aaG/aaA 0 -KLRG2 UCSF GRCh37 7 139168313 139168313 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 10 25 0 ENST00000340940.4:c.76G>A p.Val26Ile p.V26I ENST00000340940 NM_198508.2 26 Gtc/Atc 0 -KNTC1 UCSF GRCh37 12 123065191 123065191 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 62 144 0 ENST00000333479.7:c.2956C>T p.Leu986= p.L986= ENST00000333479 NM_014708.4 986 Cta/Tta 0 -KNTC1 UCSF GRCh37 12 123105155 123105155 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 129 84 196 0 ENST00000333479.7:c.6279G>A p.Lys2093= p.K2093= ENST00000333479 NM_014708.4 2093 aaG/aaA 0 -KPRP UCSF GRCh37 1 152733324 152733324 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 87 146 0 ENST00000606109.1:c.1260G>A p.Pro420= p.P420= ENST00000606109 420 ccG/ccA 0 -KPTN UCSF GRCh37 19 47979872 47979872 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 12 43 0 ENST00000338134.3:c.1099C>T p.Leu367= p.L367= ENST00000338134 NM_007059.2 367 Ctg/Ttg 0 -KREMEN2 UCSF GRCh37 16 3014543 3014543 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 17 49 0 ENST00000303746.5:c.22G>A p.Gly8Ser p.G8S ENST00000303746 8 Ggc/Agc 0 -KRT16 UCSF GRCh37 17 39766220 39766220 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 14 26 0 ENST00000301653.4:c.1389C>T p.Ser463= p.S463= ENST00000301653 NM_005557.3 463 agC/agT 0 -KRT17 UCSF GRCh37 17 39777062 39777062 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 82 148 0 ENST00000311208.8:c.1030G>A p.Gly344Arg p.G344R ENST00000311208 NM_000422.2 344 Ggg/Agg 0 -KRT23 UCSF GRCh37 17 39092689 39092689 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 62 130 0 ENST00000209718.3:c.167G>A p.Gly56Glu p.G56E ENST00000209718 NM_015515.3 56 gGa/gAa 0 -KRT38 UCSF GRCh37 17 39596466 39596466 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 46 123 0 ENST00000246646.3:c.522G>A p.Arg174= p.R174= ENST00000246646 NM_006771.3 174 agG/agA 0 -KRT5 UCSF GRCh37 12 52913654 52913654 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 87 143 0 ENST00000252242.4:c.427G>A p.Val143Ile p.V143I ENST00000252242 NM_000424.3 143 Gtc/Atc 0 -KRT78 UCSF GRCh37 12 53233613 53233613 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 70 90 0 ENST00000304620.4:c.1203C>T p.Ser401= p.S401= ENST00000304620 NM_173352.2 401 agC/agT 0 -KRT8 UCSF GRCh37 12 53292248 53292248 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 20 17 62 0 ENST00000293308.6:c.1258G>A p.Ala420Thr p.A420T ENST00000293308 NM_002273.3 420 Gca/Aca 0 -KRTAP4-9 UCSF GRCh37 17 39261982 39261982 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 54 81 0 ENST00000391415.1:c.342C>T p.Cys114= p.C114= ENST00000391415 NM_001146041.1 114 tgC/tgT 0 -KRTAP6-3 UCSF GRCh37 21 31964836 31964836 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 80 176 1 ENST00000391624.1:c.51C>T p.Cys17= p.C17= ENST00000391624 NM_181605.3 17 tgC/tgT 0 -KSR2 UCSF GRCh37 12 118198996 118198996 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 46 72 0 ENST00000339824.5:c.806C>T p.Thr269Ile p.T269I ENST00000339824 269 aCc/aTc 0 -LAD1 UCSF GRCh37 1 201355974 201355974 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 101 164 0 ENST00000391967.2:c.515G>A p.Gly172Glu p.G172E ENST00000391967 NM_005558.3 172 gGg/gAg 0 -LAMA2 UCSF GRCh37 6 129687384 129687384 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P10_Rec Untested WXS Illumina HiSeq 41 0 ENST00000421865.2:c.4739del p.Gly1580AlafsTer15 p.G1580Afs*15 ENST00000421865 NM_001079823.1 1580 Ggc/gc 0 -LAMA2 UCSF GRCh37 6 129714201 129714201 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 63 170 0 ENST00000421865.2:c.5246C>T p.Ala1749Val p.A1749V ENST00000421865 NM_001079823.1 1749 gCc/gTc 0 -LAMA3 UCSF GRCh37 18 21395538 21395538 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 41 120 0 ENST00000313654.9:c.2047+1G>A p.X683_splice ENST00000313654 NM_198129.1 0 -LAMA4 UCSF GRCh37 6 112499418 112499418 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 65 101 0 ENST00000230538.7:c.1094G>A p.Arg365Lys p.R365K ENST00000230538 NM_001105206.2 365 aGa/aAa 0 -LAMA4 UCSF GRCh37 6 112460974 112460974 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 76 169 0 ENST00000230538.7:c.3090C>T p.Ser1030= p.S1030= ENST00000230538 NM_001105206.2 1030 tcC/tcT 0 -LAMA5 UCSF GRCh37 20 60889928 60889928 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 48 66 0 ENST00000252999.3:c.8123C>T p.Ala2708Val p.A2708V ENST00000252999 NM_005560.4 2708 gCc/gTc 0 -LAMB1 UCSF GRCh37 7 107594095 107594095 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 75 146 0 ENST00000222399.6:c.2959C>T p.Pro987Ser p.P987S ENST00000222399 NM_002291.2 987 Cca/Tca 0 -LAMB1 UCSF GRCh37 7 107575896 107575896 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 95 204 0 ENST00000222399.6:c.4152G>A p.Lys1384= p.K1384= ENST00000222399 NM_002291.2 1384 aaG/aaA 0 -LAMB3 UCSF GRCh37 1 209800835 209800835 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 31 63 0 ENST00000356082.4:c.1378C>T p.Pro460Ser p.P460S ENST00000356082 NM_000228.2 460 Ccc/Tcc 0 -LAMC2 UCSF GRCh37 1 183197740 183197740 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 68 129 0 ENST00000264144.4:c.1700C>T p.Ala567Val p.A567V ENST00000264144 NM_005562.2 567 gCa/gTa 0 -LAMC3 UCSF GRCh37 9 133932472 133932472 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.010,1000g2011may_all_0.0351,snp132_rs61737720 P10_Rec Untested WXS Illumina HiSeq 120 61 111 0 ENST00000361069.4:c.2096G>A p.Gly699Asp p.G699D ENST00000361069 NM_006059.3 699 gGt/gAt 0 -LAP3 UCSF GRCh37 4 17608484 17608484 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 58 156 0 ENST00000226299.4:c.1293G>A p.Arg431= p.R431= ENST00000226299 NM_015907.2 431 agG/agA 0 -LARS UCSF GRCh37 5 145508612 145508612 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 39 36 104 0 ENST00000394434.2:c.2698C>T p.Gln900Ter p.Q900* ENST00000394434 NM_020117.9 900 Cag/Tag 0 -LAS1L UCSF GRCh37 X 64748194 64748194 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 6 26 0 ENST00000374811.3:c.902C>T p.Ser301Phe p.S301F ENST00000374811 NM_031206.4 301 tCc/tTc 0 -LATS1 UCSF GRCh37 6 149997779 149997779 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 42 71 0 ENST00000253339.5:c.2688G>A p.Arg896= p.R896= ENST00000253339 896 cgG/cgA 0 -LAX1 UCSF GRCh37 1 203743526 203743526 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 85 140 0 ENST00000442561.2:c.914G>A p.Ser305Asn p.S305N ENST00000442561 NM_017773.3 305 aGc/aAc 0 -LCE3E UCSF GRCh37 1 152538436 152538436 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 95 161 0 ENST00000368789.1:c.249C>T p.Gly83= p.G83= ENST00000368789 NM_178435.3 83 ggC/ggT 0 -LCK UCSF GRCh37 1 32740015 32740015 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 65 108 0 ENST00000336890.5:c.85C>T p.Pro29Ser p.P29S ENST00000336890 NM_005356.3 29 Cca/Tca 0 -LCT UCSF GRCh37 2 136561679 136561679 + missense_variant Missense_Mutation SNP T T A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 41 120 0 ENST00000264162.2:c.4484A>T p.Asp1495Val p.D1495V ENST00000264162 NM_002299.2 1495 gAc/gTc 0 -LDB2 UCSF GRCh37 4 16504426 16504426 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 117 104 198 0 ENST00000304523.5:c.962C>T p.Thr321Ile p.T321I ENST00000304523 NM_001290.3 321 aCt/aTt 0 -LDB2 UCSF GRCh37 4 16504319 16504319 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 109 110 192 0 ENST00000304523.5:c.1069C>T p.Pro357Ser p.P357S ENST00000304523 NM_001290.3 357 Ccc/Tcc 0 -LDB3 UCSF GRCh37 10 88441418 88441418 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 43 79 0 ENST00000361373.4:c.547C>T p.Pro183Ser p.P183S ENST00000361373 NM_007078.2 183 Cca/Tca 0 -LEAP2 UCSF GRCh37 5 132209757 132209757 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 52 131 0 ENST00000296877.2:c.173C>T p.Ser58Phe p.S58F ENST00000296877 NM_052971.2 58 tCt/tTt 0 -LEPREL1 UCSF GRCh37 3 189706695 189706695 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 78 183 0 ENST00000319332.5:c.955+1G>A p.X319_splice ENST00000319332 NM_018192.3 0 -LGALS9B UCSF GRCh37 17 20361598 20361598 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 48 243 0 ENST00000423676.3:c.231G>A p.Arg77= p.R77= ENST00000423676 77 agG/agA 0 -LGR5 UCSF GRCh37 12 71834027 71834027 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 42 47 0 ENST00000266674.5:c.167G>A p.Gly56Glu p.G56E ENST00000266674 NM_001277226.1 56 gGg/gAg 0 -LHFPL2 UCSF GRCh37 5 77805969 77805969 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 54 113 0 ENST00000380345.2:c.68C>T p.Ala23Val p.A23V ENST00000380345 NM_005779.2 23 gCc/gTc 0 -LHX2 UCSF GRCh37 9 126777518 126777518 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 79 141 0 ENST00000373615.4:c.441C>T p.Asn147= p.N147= ENST00000373615 NM_004789.3 147 aaC/aaT 0 -LHX4 UCSF GRCh37 1 180243477 180243477 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 96 190 0 ENST00000263726.2:c.936G>A p.Gln312= p.Q312= ENST00000263726 NM_033343.3 312 caG/caA 0 -LILRB3 UCSF GRCh37 19 54725769 54725769 + missense_variant Missense_Mutation SNP A A T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 31 109 0 ENST00000245620.9:c.589T>A p.Tyr197Asn p.Y197N ENST00000245620 197 Tat/Aat 0 -LIMA1 UCSF GRCh37 12 50615987 50615987 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 106 192 0 ENST00000341247.4:c.447G>A p.Glu149= p.E149= ENST00000341247 NM_016357.4 149 gaG/gaA 0 -LLGL1 UCSF GRCh37 17 18137478 18137478 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 24 29 0 ENST00000316843.4:c.703C>T p.Leu235= p.L235= ENST00000316843 NM_004140.3 235 Ctg/Ttg 0 -LMBRD1 UCSF GRCh37 6 70411348 70411348 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 19 17 63 0 ENST00000370577.3:c.1070C>T p.Pro357Leu p.P357L ENST00000370577 NM_018368.3 357 cCt/cTt 0 -LNP1 UCSF GRCh37 3 100148694 100148694 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 56 119 0 ENST00000383693.3:c.121G>A p.Ala41Thr p.A41T ENST00000383693 NM_001085451.1 41 Gcc/Acc 0 -LOC100129924 UCSF GRCh37 1 43255568 43255568 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 59 110 0 ENST00000421630.1:c.89G>A p.Val31Met p.V31M ENST00000421630 NM_001242750.1 31 Gtg/Atg 0 -LOC120824 UCSF GRCh37 11 49002870 49002870 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 112 214 0 ENST00000534741.1:n.378C>T *126* ENST00000534741 0 -LOC388946 UCSF GRCh37 2 46711561 46711561 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 121 112 231 0 ENST00000434431.1:c.656C>T p.Ser219Leu p.S219L ENST00000434431 NM_001145051.2 219 tCa/tTa 0 -LOH12CR1 UCSF GRCh37 12 12510410 12510410 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 15 30 0 ENST00000314565.4:c.25G>A p.Ala9Thr p.A9T ENST00000314565 NM_058169.3 9 Gcc/Acc 0 -LONP2 UCSF GRCh37 16 48278417 48278417 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 9 20 0 ENST00000285737.4:c.118C>T p.Gln40Ter p.Q40* ENST00000285737 NM_031490.2 40 Cag/Tag 0 -LOX UCSF GRCh37 5 121413366 121413366 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 10 11 0 ENST00000231004.4:c.315G>A p.Arg105= p.R105= ENST00000231004 NM_002317.5 105 cgG/cgA 0 -LOXHD1 UCSF GRCh37 18 44159706 44159706 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 37 83 0 ENST00000398722.4:c.862G>A p.Gly288Ser p.G288S ENST00000398722 288 Ggt/Agt 0 -LOXHD1 UCSF GRCh37 18 44122802 44122802 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 29 112 0 ENST00000300591.6:c.303G>A p.Lys101= p.K101= ENST00000300591 NM_001145472.2 101 aaG/aaA 0 -LOXHD1 UCSF GRCh37 18 44104875 44104875 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 4 30 0 ENST00000300591.6:c.1203C>T p.Asp401= p.D401= ENST00000300591 NM_001145472.2 401 gaC/gaT 0 -LPXN UCSF GRCh37 11 58318693 58318693 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 40 85 0 ENST00000395074.2:c.331G>A p.Ala111Thr p.A111T ENST00000395074 NM_004811.2 111 Gca/Aca 0 -LRBA UCSF GRCh37 4 151408963 151408963 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.001 P10_Rec Untested WXS Illumina HiSeq 63 49 123 0 ENST00000357115.3:c.6505G>A p.Asp2169Asn p.D2169N ENST00000357115 NM_006726.4 2169 Gac/Aac 0 -LRBA UCSF GRCh37 4 151203777 151203777 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 79 53 110 0 ENST00000357115.3:c.8174C>T p.Ser2725Phe p.S2725F ENST00000357115 NM_006726.4 2725 tCc/tTc 0 -LRCH4 UCSF GRCh37 7 100173932 100173932 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 21 39 0 ENST00000310300.6:c.1567G>A p.Asp523Asn p.D523N ENST00000310300 NM_002319.3 523 Gac/Aac 0 -LRFN3 UCSF GRCh37 19 36430445 36430445 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 15 33 0 ENST00000246529.3:c.118C>T p.Pro40Ser p.P40S ENST00000246529 NM_024509.1 40 Ccc/Tcc 0 -LRG1 UCSF GRCh37 19 4538787 4538787 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 42 72 0 ENST00000306390.6:c.209C>T p.Thr70Ile p.T70I ENST00000306390 NM_052972.2 70 aCc/aTc 0 -LRP1B UCSF GRCh37 2 141259338 141259338 + missense_variant Missense_Mutation SNP C C T snp132_rs77813209 P10_Rec Untested WXS Illumina HiSeq 77 74 178 0 ENST00000389484.3:c.8768G>A p.Arg2923Lys p.R2923K ENST00000389484 NM_018557.2 2923 aGa/aAa 0 -LRP2 UCSF GRCh37 2 170101379 170101379 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 72 198 0 ENST00000263816.3:c.3254G>A p.Arg1085His p.R1085H ENST00000263816 NM_004525.2 1085 cGc/cAc 0 -LRRC24 UCSF GRCh37 8 145748767 145748767 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 20 35 0 ENST00000529415.2:c.634C>T p.Leu212= p.L212= ENST00000529415 212 Ctg/Ttg 0 -LRRC45 UCSF GRCh37 17 79983276 79983276 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 39 126 0 ENST00000306688.3:c.554G>A p.Gly185Asp p.G185D ENST00000306688 NM_144999.2 185 gGc/gAc 0 -LRRC48 UCSF GRCh37 17 17910712 17910712 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 70 152 0 ENST00000313838.8:c.1326+251G>A *442* ENST00000313838 NM_001130090.1 0 -LRRC49 UCSF GRCh37 15 71188259 71188259 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 27 111 0 ENST00000260382.5:c.177C>T p.Asn59= p.N59= ENST00000260382 NM_001199017.1 59 aaC/aaT 0 -LRRC4C UCSF GRCh37 11 40137279 40137279 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 101 206 0 ENST00000278198.2:c.564C>T p.Ile188= p.I188= ENST00000278198 188 atC/atT 0 -LRRC4C UCSF GRCh37 11 40137585 40137585 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 5 63 133 0 ENST00000278198.2:c.258C>T p.Asn86= p.N86= ENST00000278198 86 aaC/aaT 0 -LRRIQ1 UCSF GRCh37 12 85546078 85546078 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 65 159 0 ENST00000393217.2:c.4350G>A p.Trp1450Ter p.W1450* ENST00000393217 NM_001079910.1 1450 tgG/tgA 0 -LRRIQ4 UCSF GRCh37 3 169540582 169540582 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 73 163 0 ENST00000340806.6:c.873C>T p.Gly291= p.G291= ENST00000340806 NM_001080460.1 291 ggC/ggT 0 -LRRK2 UCSF GRCh37 12 40696608 40696608 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 77 194 0 ENST00000298910.7:c.3514C>T p.Pro1172Ser p.P1172S ENST00000298910 NM_198578.3 1172 Cct/Tct 0 -LRRTM1 UCSF GRCh37 2 80530170 80530170 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 52 111 0 ENST00000295057.3:c.775G>A p.Glu259Lys p.E259K ENST00000295057 NM_178839.4 259 Gag/Aag 0 -LRRTM3 UCSF GRCh37 10 68687617 68687617 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 83 181 0 ENST00000361320.4:c.943G>A p.Glu315Lys p.E315K ENST00000361320 NM_178011.3 315 Gaa/Aaa 0 -LRRTM3 UCSF GRCh37 10 68687235 68687235 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 96 203 0 ENST00000361320.4:c.561C>T p.Asp187= p.D187= ENST00000361320 NM_178011.3 187 gaC/gaT 0 -LRWD1 UCSF GRCh37 7 102108556 102108556 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 14 20 0 ENST00000292616.5:c.726C>T p.Leu242= p.L242= ENST00000292616 NM_152892.1 242 ctC/ctT 0 -LSG1 UCSF GRCh37 3 194387006 194387006 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 65 150 0 ENST00000265245.5:c.360C>T p.Asn120= p.N120= ENST00000265245 NM_018385.2 120 aaC/aaT 0 -LSMD1 UCSF GRCh37 17 7760127 7760127 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 49 100 0 ENST00000575771.1:c.144C>T p.Gly48= p.G48= ENST00000575771 48 ggC/ggT 0 -LTBP1 UCSF GRCh37 2 33623550 33623550 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 58 130 0 ENST00000404816.2:c.5104C>T p.Pro1702Ser p.P1702S ENST00000404816 1702 Cca/Tca 0 -LTK UCSF GRCh37 15 41804429 41804429 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 16 43 0 ENST00000263800.6:c.394G>A p.Ala132Thr p.A132T ENST00000263800 NM_002344.5 132 Gcc/Acc 0 -LTN1 UCSF GRCh37 21 30304865 30304865 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 132 131 227 0 ENST00000361371.5:c.4997G>A p.Gly1666Glu p.G1666E ENST00000361371 1666 gGg/gAg 0 -LTN1 UCSF GRCh37 21 30313628 30313628 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 67 184 0 ENST00000361371.5:c.4396C>T p.Pro1466Ser p.P1466S ENST00000361371 1466 Cca/Tca 0 -LTN1 UCSF GRCh37 21 30316208 30316208 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 70 173 0 ENST00000361371.5:c.4001C>T p.Ser1334Phe p.S1334F ENST00000361371 1334 tCt/tTt 0 -LUZP1 UCSF GRCh37 1 23420637 23420637 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 105 76 213 0 ENST00000302291.4:c.118G>A p.Ala40Thr p.A40T ENST00000302291 40 Gca/Aca 0 -LY75 UCSF GRCh37 2 160750565 160750565 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 57 186 0 ENST00000263636.4:c.497G>A p.Gly166Glu p.G166E ENST00000263636 NM_002349.3 166 gGg/gAg 0 -LYPD4 UCSF GRCh37 19 42342085 42342085 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 82 53 121 0 ENST00000330743.3:c.462C>T p.Leu154= p.L154= ENST00000330743 NM_173506.4 154 ctC/ctT 0 -MACF1 UCSF GRCh37 1 39759204 39759204 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 87 211 0 ENST00000372915.3:c.2082C>T p.Ile694= p.I694= ENST00000372915 694 atC/atT 0 -MACF1 UCSF GRCh37 1 39913788 39913788 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 66 152 0 ENST00000372915.3:c.19749C>T p.Asp6583= p.D6583= ENST00000372915 6583 gaC/gaT 0 -MACROD1 UCSF GRCh37 11 63766310 63766310 + splice_region_variant,3_prime_UTR_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 4 21 0 ENST00000255681.6:c.*30G>A p.X10_splice ENST00000255681 NM_014067.3 0 -MAD2L2 UCSF GRCh37 1 11736191 11736191 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 27 58 0 ENST00000235310.3:c.339C>T p.Asp113= p.D113= ENST00000235310 113 gaC/gaT 0 -MAG UCSF GRCh37 19 35793430 35793430 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 41 109 0 ENST00000392213.3:c.1050G>A p.Gln350= p.Q350= ENST00000392213 NM_002361.3 350 caG/caA 0 -MAGEB3 UCSF GRCh37 X 30254867 30254867 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 75 158 0 ENST00000361644.2:c.826G>A p.Gly276Ser p.G276S ENST00000361644 NM_002365.4 276 Ggt/Agt 0 -MAGEB6 UCSF GRCh37 X 26212424 26212424 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 76 211 0 ENST00000379034.1:c.461C>T p.Thr154Ile p.T154I ENST00000379034 NM_173523.2 154 aCt/aTt 0 -MAGED2 UCSF GRCh37 X 54841848 54841848 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 40 41 90 0 ENST00000218439.4:c.1554G>A p.Trp518Ter p.W518* ENST00000218439 518 tgG/tgA 0 -MAGED2 UCSF GRCh37 X 54838651 54838651 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 44 96 0 ENST00000218439.4:c.1052C>T p.Thr351Ile p.T351I ENST00000218439 351 aCc/aTc 0 -MAGI2 UCSF GRCh37 7 77649240 77649240 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 20 39 50 0 ENST00000354212.4:c.3760G>A p.Val1254Ile p.V1254I ENST00000354212 NM_012301.3 1254 Gta/Ata 0 -MAGI3 UCSF GRCh37 1 113933844 113933844 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 7 15 0 ENST00000307546.9:c.189G>A p.Lys63= p.K63= ENST00000307546 NM_001142782.1 63 aaG/aaA 0 -MAK UCSF GRCh37 6 10791958 10791958 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 64 179 0 ENST00000313243.2:c.1266G>A p.Lys422= p.K422= ENST00000313243 422 aaG/aaA 0 -MAK16 UCSF GRCh37 8 33346598 33346598 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 67 201 0 ENST00000360128.6:c.333G>A p.Gln111= p.Q111= ENST00000360128 NM_032509.3 111 caG/caA 0 -MAL2 UCSF GRCh37 8 120252459 120252459 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 348 107 164 0 ENST00000276681.6:c.358G>A p.Glu120Lys p.E120K ENST00000276681 NM_052886.2 120 Gaa/Aaa 0 -MAMDC4 UCSF GRCh37 9 139748472 139748472 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 135 47 123 0 ENST00000445819.1:c.614C>T p.Thr205Ile p.T205I ENST00000445819 205 aCc/aTc 0 -MAMDC4 UCSF GRCh37 9 139750500 139750500 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 96 42 96 0 ENST00000445819.1:c.1619G>A p.Gly540Glu p.G540E ENST00000445819 540 gGg/gAg 0 -MAML3 UCSF GRCh37 4 141074079 141074079 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 7 23 0 ENST00000509479.2:c.403C>T p.Pro135Ser p.P135S ENST00000509479 NM_018717.4 135 Ccg/Tcg 0 -MAMSTR UCSF GRCh37 19 49218605 49218605 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 22 52 0 ENST00000318083.6:c.339G>A p.Arg113= p.R113= ENST00000318083 113 agG/agA 0 -MAN2B1 UCSF GRCh37 19 12759216 12759216 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 21 52 0 ENST00000456935.2:c.2437G>A p.Val813Met p.V813M ENST00000456935 NM_000528.3 813 Gtg/Atg 0 -MANF UCSF GRCh37 3 51425239 51425239 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 94 193 0 ENST00000528157.1:c.294C>T p.His98= p.H98= ENST00000528157 NM_006010.4 98 caC/caT 0 -MAP1A UCSF GRCh37 15 43819862 43819862 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.0018 P10_Rec Untested WXS Illumina HiSeq 35 49 72 0 ENST00000300231.5:c.6191C>T p.Pro2064Leu p.P2064L ENST00000300231 2064 cCc/cTc 0 -MAP1B UCSF GRCh37 5 71403432 71403432 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 11 16 0 ENST00000296755.7:c.74C>T p.Ser25Leu p.S25L ENST00000296755 NM_005909.3 25 tCg/tTg 0 -MAP1S UCSF GRCh37 19 17838521 17838521 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 19 41 0 ENST00000324096.4:c.2328G>A p.Gly776= p.G776= ENST00000324096 NM_018174.4 776 ggG/ggA 0 -MAP2 UCSF GRCh37 2 210560323 210560323 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 96 84 151 0 ENST00000360351.4:c.3429G>A p.Glu1143= p.E1143= ENST00000360351 NM_002374.3 1143 gaG/gaA 0 -MAP3K14 UCSF GRCh37 17 43345108 43345108 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 72 179 0 ENST00000344686.2:n.2097C>T *699* ENST00000344686 0 -MAP3K4 UCSF GRCh37 6 161470113 161470113 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 53 132 0 ENST00000392142.4:c.809C>T p.Ala270Val p.A270V ENST00000392142 NM_005922.2 270 gCc/gTc 0 -MAP3K4 UCSF GRCh37 6 161519420 161519420 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 76 177 0 ENST00000392142.4:c.3635C>T p.Ser1212Phe p.S1212F ENST00000392142 NM_005922.2 1212 tCt/tTt 0 -MAP3K9 UCSF GRCh37 14 71199907 71199907 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 50 93 0 ENST00000554752.2:c.2179G>A p.Ala727Thr p.A727T ENST00000554752 NM_001284230.1 727 Gcc/Acc 0 -MAP3K9 UCSF GRCh37 14 71215576 71215576 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 62 149 0 ENST00000554752.2:c.1296G>A p.Glu432= p.E432= ENST00000554752 NM_001284230.1 432 gaG/gaA 0 -MAP4K4 UCSF GRCh37 2 102477371 102477371 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 67 149 0 ENST00000347699.4:c.1789C>T p.Pro597Ser p.P597S ENST00000347699 NM_145687.3 597 Cct/Tct 0 -MAP7D2 UCSF GRCh37 X 20044013 20044013 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 115 222 0 ENST00000379651.3:c.942G>A p.Gly314= p.G314= ENST00000379651 NM_152780.3 314 ggG/ggA 0 -MAPK7 UCSF GRCh37 17 19286515 19286515 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 41 64 0 ENST00000308406.5:c.2422G>A p.Ala808Thr p.A808T ENST00000308406 NM_139033.2 808 Gct/Act 0 -MAPK8IP3 UCSF GRCh37 16 1756385 1756385 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 16 16 0 ENST00000250894.4:c.45C>T p.Tyr15= p.Y15= ENST00000250894 NM_015133.3 15 taC/taT 0 -MARVELD3 UCSF GRCh37 16 71668385 71668385 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 67 102 0 ENST00000268485.3:c.885C>T p.Val295= p.V295= ENST00000268485 NM_052858.5 295 gtC/gtT 0 -MASP1 UCSF GRCh37 3 186961389 186961389 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 83 186 0 ENST00000337774.5:c.1111G>A p.Gly371Arg p.G371R ENST00000337774 NM_001879.5 371 Gga/Aga 0 -MASP2 UCSF GRCh37 1 11094897 11094897 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 18 41 0 ENST00000400897.3:c.1075C>T p.Pro359Ser p.P359S ENST00000400897 NM_006610.3 359 Ccc/Tcc 0 -MAST1 UCSF GRCh37 19 12980027 12980027 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 63 128 0 ENST00000251472.4:c.2921G>A p.Gly974Asp p.G974D ENST00000251472 NM_014975.2 974 gGc/gAc 0 -MAST1 UCSF GRCh37 19 12981740 12981740 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 96 99 172 0 ENST00000251472.4:c.3106G>A p.Val1036Ile p.V1036I ENST00000251472 NM_014975.2 1036 Gtc/Atc 0 -MAST2 UCSF GRCh37 1 46295118 46295118 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 77 118 0 ENST00000361297.2:c.333G>A p.Gln111= p.Q111= ENST00000361297 NM_015112.2 111 caG/caA 0 -MAST3 UCSF GRCh37 19 18241465 18241465 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 57 136 0 ENST00000262811.6:c.1298C>T p.Ser433Phe p.S433F ENST00000262811 NM_015016.1 433 tCc/tTc 0 -MAST3 UCSF GRCh37 19 18235099 18235099 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 57 80 0 ENST00000262811.6:c.781G>A p.Glu261Lys p.E261K ENST00000262811 NM_015016.1 261 Gag/Aag 0 -MATN4 UCSF GRCh37 20 43927138 43927138 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 54 113 0 ENST00000372754.1:c.1221C>T p.Arg407= p.R407= ENST00000372754 407 cgC/cgT 0 -MC2R UCSF GRCh37 18 13884907 13884907 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 64 106 0 ENST00000327606.3:c.611C>T p.Thr204Ile p.T204I ENST00000327606 NM_000529.2 204 aCc/aTc 0 -MCCC2 UCSF GRCh37 5 70945927 70945927 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 103 214 1 ENST00000340941.6:c.1405C>T p.Arg469Cys p.R469C ENST00000340941 NM_022132.4 469 Cgt/Tgt 0 -MCF2L UCSF GRCh37 13 113741572 113741572 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 23 47 0 ENST00000375608.3:c.2487G>A p.Lys829= p.K829= ENST00000375608 829 aaG/aaA 0 -MCF2L2 UCSF GRCh37 3 183027568 183027568 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 75 150 0 ENST00000328913.3:c.1049G>A p.Gly350Glu p.G350E ENST00000328913 NM_015078.2 350 gGa/gAa 0 -MDN1 UCSF GRCh37 6 90383056 90383056 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 73 148 0 ENST00000369393.3:c.13373C>T p.Ala4458Val p.A4458V ENST00000369393 4458 gCa/gTa 0 -MED12L UCSF GRCh37 3 151148113 151148113 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 51 107 0 ENST00000474524.1:c.6330C>T p.Thr2110= p.T2110= ENST00000474524 NM_053002.4 2110 acC/acT 0 -MED13L UCSF GRCh37 12 116421027 116421027 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 62 135 0 ENST00000281928.3:c.4850G>A p.Ser1617Asn p.S1617N ENST00000281928 NM_015335.4 1617 aGc/aAc 0 -MED13L UCSF GRCh37 12 116443759 116443759 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 52 137 0 ENST00000281928.3:c.2384G>A p.Ser795Asn p.S795N ENST00000281928 NM_015335.4 795 aGt/aAt 0 -MED14 UCSF GRCh37 X 40531161 40531161 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 89 186 0 ENST00000324817.1:c.3085C>T p.His1029Tyr p.H1029Y ENST00000324817 NM_004229.3 1029 Cat/Tat 0 -MED14 UCSF GRCh37 X 40534551 40534551 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 56 139 0 ENST00000324817.1:c.2943C>T p.Asp981= p.D981= ENST00000324817 NM_004229.3 981 gaC/gaT 0 -MED14 UCSF GRCh37 X 40562802 40562802 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 51 103 0 ENST00000324817.1:c.1305C>T p.Leu435= p.L435= ENST00000324817 NM_004229.3 435 ctC/ctT 0 -MED23 UCSF GRCh37 6 131929203 131929203 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 77 152 0 ENST00000368068.3:c.1086G>A p.Gly362= p.G362= ENST00000368068 NM_004830.3 362 ggG/ggA 0 -MEGF11 UCSF GRCh37 15 66420670 66420670 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 17 29 0 ENST00000409699.2:c.72C>T p.Asp24= p.D24= ENST00000409699 24 gaC/gaT 0 -MEI1 UCSF GRCh37 22 42190449 42190449 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 5 129 232 0 ENST00000401548.3:c.3502C>T p.Leu1168Phe p.L1168F ENST00000401548 NM_152513.3 1168 Ctc/Ttc 0 -MESP1 UCSF GRCh37 15 90294045 90294045 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 8 15 0 ENST00000300057.4:c.418C>T p.Leu140= p.L140= ENST00000300057 NM_018670.3 140 Cta/Tta 0 -METTL10 UCSF GRCh37 10 126454016 126454017 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 0 ENST00000368836.2:c.561dup p.Leu188SerfsTer6 p.L188Sfs*6 ENST00000368836 NM_212554.2 187 ttt/ttTt 0 -METTL3 UCSF GRCh37 14 21971694 21971694 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 62 163 0 ENST00000298717.4:c.345G>A p.Gly115= p.G115= ENST00000298717 NM_019852.3 115 ggG/ggA 0 -METTL4 UCSF GRCh37 18 2547360 2547360 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 68 154 0 ENST00000574538.1:c.1068G>A p.Trp356Ter p.W356* ENST00000574538 NM_022840.3 356 tgG/tgA 0 -MEX3A UCSF GRCh37 1 156047225 156047225 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 16 58 0 ENST00000532414.2:c.703G>A p.Val235Met p.V235M ENST00000532414 NM_001093725.1 235 Gtg/Atg 0 -MFAP3L UCSF GRCh37 4 170913421 170913421 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 71 140 0 ENST00000361618.3:c.338C>T p.Thr113Ile p.T113I ENST00000361618 NM_021647.6 113 aCc/aTc 0 -MFHAS1 UCSF GRCh37 8 8749590 8749590 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 42 78 0 ENST00000276282.6:c.979G>A p.Asp327Asn p.D327N ENST00000276282 NM_004225.2 327 Gat/Aat 0 -MFSD7 UCSF GRCh37 4 680002 680002 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 27 67 0 ENST00000404286.2:c.384C>T p.Phe128= p.F128= ENST00000404286 NM_032219.2 128 ttC/ttT 0 -MGST2 UCSF GRCh37 4 140599723 140599723 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 46 98 0 ENST00000265498.1:c.85G>A p.Ala29Thr p.A29T ENST00000265498 NM_002413.4 29 Gca/Aca 0 -MICAL3 UCSF GRCh37 22 18362124 18362124 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 33 40 63 0 ENST00000441493.2:c.2241+6520C>T *747* ENST00000441493 NM_015241.2 0 -MINA UCSF GRCh37 3 97686406 97686406 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 38 98 0 ENST00000333396.7:c.32G>A p.Gly11Glu p.G11E ENST00000333396 NM_001042533.2 11 gGg/gAg 0 -MITF UCSF GRCh37 3 69987126 69987126 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 54 124 0 ENST00000448226.2:c.508C>T p.Pro170Ser p.P170S ENST00000448226 170 Cca/Tca 0 -MKRN2 UCSF GRCh37 3 12611623 12611623 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 64 115 0 ENST00000170447.7:c.209C>T p.Ala70Val p.A70V ENST00000170447 NM_014160.4 70 gCc/gTc 0 -MLH1 UCSF GRCh37 3 37090029 37090029 + missense_variant Missense_Mutation SNP C C T snp132_rs63749792 P10_Rec somatic WXS Sanger Illumina HiSeq 9 59 135 0 ENST00000231790.2:c.1918C>T p.Pro640Ser p.P640S ENST00000231790 NM_000249.3 640 Ccc/Tcc 0 -MLKL UCSF GRCh37 16 74706417 74706417 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 91 198 0 ENST00000308807.7:c.1401C>T p.Ser467= p.S467= ENST00000308807 NM_152649.2 467 tcC/tcT 0 -MLL UCSF GRCh37 11 118373395 118373395 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 73 161 0 ENST00000389506.5:c.6779C>T p.Thr2260Ile p.T2260I ENST00000389506 2260 aCt/aTt 0 -MLL2 UCSF GRCh37 12 49443496 49443496 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 60 110 0 ENST00000301067.7:c.3875G>A p.Arg1292His p.R1292H ENST00000301067 NM_003482.3 1292 cGc/cAc 0 -MLL2 UCSF GRCh37 12 49431862 49431862 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 51 122 0 ENST00000301067.7:c.9277C>T p.Pro3093Ser p.P3093S ENST00000301067 NM_003482.3 3093 Ccc/Tcc 0 -MLL2 UCSF GRCh37 12 49436429 49436429 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 46 126 0 ENST00000301067.7:c.5783-1G>A p.X1928_splice ENST00000301067 NM_003482.3 0 -MLL2 UCSF GRCh37 12 49416080 49416080 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 69 116 0 ENST00000301067.7:c.16395G>A p.Leu5465= p.L5465= ENST00000301067 NM_003482.3 5465 ttG/ttA 0 -MLL2 UCSF GRCh37 12 49435948 49435948 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 28 85 0 ENST00000301067.7:c.6033G>A p.Glu2011= p.E2011= ENST00000301067 NM_003482.3 2011 gaG/gaA 0 -MLL3 UCSF GRCh37 7 151851369 151851369 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 66 151 0 ENST00000262189.6:c.12122C>T p.Pro4041Leu p.P4041L ENST00000262189 NM_170606.2 4041 cCt/cTt 0 -MLL3 UCSF GRCh37 7 151884919 151884919 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 104 73 164 0 ENST00000262189.6:c.4674G>A p.Arg1558= p.R1558= ENST00000262189 NM_170606.2 1558 cgG/cgA 0 -MLL4 UCSF GRCh37 19 36210734 36210734 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 64 138 0 ENST00000420124.1:c.485C>T p.Pro162Leu p.P162L ENST00000420124 162 cCt/cTt 0 -MLLT10 UCSF GRCh37 10 21903804 21903804 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 31 92 0 ENST00000307729.7:c.554C>T p.Ala185Val p.A185V ENST00000307729 185 gCc/gTc 0 -MLLT10 UCSF GRCh37 10 21962612 21962612 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 221 100 213 0 ENST00000307729.7:c.1385C>T p.Thr462Ile p.T462I ENST00000307729 462 aCt/aTt 0 -MMACHC UCSF GRCh37 1 45973070 45973070 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 29 46 1 ENST00000401061.4:c.124C>T p.Pro42Ser p.P42S ENST00000401061 NM_015506.2 42 Ccg/Tcg 0 -MMP16 UCSF GRCh37 8 89058896 89058896 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 286 105 196 0 ENST00000286614.6:c.1489+1G>A p.X497_splice ENST00000286614 NM_005941.4 0 -MMP2 UCSF GRCh37 16 55525787 55525787 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 42 81 0 ENST00000219070.4:c.1255G>A p.Ala419Thr p.A419T ENST00000219070 NM_004530.4 419 Gcc/Acc 0 -MMP26 UCSF GRCh37 11 5010920 5010920 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 48 84 0 ENST00000300762.1:c.142C>T p.Leu48Phe p.L48F ENST00000300762 NM_021801.3 48 Ctc/Ttc 0 -MMRN1 UCSF GRCh37 4 90856881 90856881 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 84 153 0 ENST00000264790.2:c.2050G>A p.Ala684Thr p.A684T ENST00000264790 NM_007351.2 684 Gct/Act 0 -MMS22L UCSF GRCh37 6 97711230 97711230 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 75 157 0 ENST00000275053.4:c.923G>A p.Ser308Asn p.S308N ENST00000275053 NM_198468.2 308 aGt/aAt 0 -MOCOS UCSF GRCh37 18 33778720 33778720 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 37 96 0 ENST00000261326.5:c.299+1G>A p.X100_splice ENST00000261326 NM_017947.2 0 -MOCS1 UCSF GRCh37 6 39877675 39877675 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 58 123 0 ENST00000340692.5:c.1006G>A p.Val336Ile p.V336I ENST00000340692 336 Gta/Ata 0 -MON1A UCSF GRCh37 3 49946495 49946495 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 0 26 73 0 ENST00000296473.3:c.1911C>T p.Ile637= p.I637= ENST00000296473 NM_032355.3 637 atC/atT 0 -MON1B UCSF GRCh37 16 77227388 77227388 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 48 96 0 ENST00000248248.3:c.189G>A p.Pro63= p.P63= ENST00000248248 NM_014940.2 63 ccG/ccA 0 -MPP2 UCSF GRCh37 17 41958890 41958890 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 33 76 0 ENST00000461854.1:c.821G>A p.Gly274Asp p.G274D ENST00000461854 NM_001278372.1 274 gGc/gAc 0 -MPRIP UCSF GRCh37 17 17061919 17061919 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 38 38 0 ENST00000341712.4:c.1649C>T p.Pro550Leu p.P550L ENST00000341712 550 cCc/cTc 0 -MRGPRX1 UCSF GRCh37 11 18955369 18955369 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 78 295 0 ENST00000302797.3:c.963G>A p.Glu321= p.E321= ENST00000302797 NM_147199.3 321 gaG/gaA 0 -MRGPRX2 UCSF GRCh37 11 19077859 19077859 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 110 191 0 ENST00000329773.2:c.91C>T p.Leu31= p.L31= ENST00000329773 NM_054030.2 31 Ctg/Ttg 0 -MRGPRX3 UCSF GRCh37 11 18159399 18159399 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 66 142 0 ENST00000396275.2:c.650C>T p.Thr217Ile p.T217I ENST00000396275 NM_054031.3 217 aCc/aTc 0 -MRPL13 UCSF GRCh37 8 121426229 121426229 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 221 53 140 0 ENST00000306185.3:c.515+1G>A p.X172_splice ENST00000306185 NM_014078.5 0 -MRPL39 UCSF GRCh37 21 26960020 26960020 + intron_variant Intron SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 46 99 0 ENST00000352957.4:c.969+1127G>A *323* ENST00000352957 NM_017446.3 0 -MRPL39 UCSF GRCh37 21 26978967 26978967 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 48 102 0 ENST00000352957.4:c.74G>A p.Arg25Lys p.R25K ENST00000352957 NM_017446.3 25 aGa/aAa 0 -MRPL41 UCSF GRCh37 9 140446606 140446606 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 13 20 0 ENST00000371443.5:c.73C>T p.Arg25Trp p.R25W ENST00000371443 NM_032477.2 25 Cgg/Tgg 0 -MRPL51 UCSF GRCh37 12 6602104 6602104 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 87 63 142 0 ENST00000229238.3:c.114C>T p.Leu38= p.L38= ENST00000229238 NM_016497.3 38 ctC/ctT 0 -MRPS22 UCSF GRCh37 3 139065749 139065749 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 80 185 0 ENST00000310776.4:c.202C>T p.Pro68Ser p.P68S ENST00000310776 NM_020191.2 68 Cct/Tct 0 -MS4A7 UCSF GRCh37 11 60156911 60156911 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 48 115 0 ENST00000300184.3:c.388G>A p.Ala130Thr p.A130T ENST00000300184 NM_206939.1 130 Gca/Aca 0 -MSI2 UCSF GRCh37 17 55693427 55693427 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 94 154 0 ENST00000284073.2:c.634C>T p.Leu212Phe p.L212F ENST00000284073 NM_138962.2 212 Ctt/Ttt 0 -MTA2 UCSF GRCh37 11 62362016 62362016 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 61 143 0 ENST00000278823.2:c.1664G>A p.Gly555Asp p.G555D ENST00000278823 NM_004739.3 555 gGc/gAc 0 -MTA3 UCSF GRCh37 2 42836678 42836678 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 150 113 213 0 ENST00000405094.1:c.271C>T p.Leu91Phe p.L91F ENST00000405094 91 Ctc/Ttc 0 -MTBP UCSF GRCh37 8 121457794 121457794 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 167 54 109 0 ENST00000305949.1:c.84G>A p.Glu28= p.E28= ENST00000305949 NM_022045.4 28 gaG/gaA 0 -MTERFD1 UCSF GRCh37 8 97263207 97263207 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 301 98 179 0 ENST00000287025.3:c.604G>A p.Asp202Asn p.D202N ENST00000287025 NM_015942.3 202 Gat/Aat 0 -MTERFD3 UCSF GRCh37 12 107371758 107371758 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 99 177 0 ENST00000240050.4:c.735C>T p.Leu245= p.L245= ENST00000240050 NM_001033050.2 245 ctC/ctT 0 -MTFMT UCSF GRCh37 15 65313862 65313862 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 129 101 197 0 ENST00000220058.4:c.635G>A p.Gly212Asp p.G212D ENST00000220058 NM_139242.3 212 gGt/gAt 0 -MTMR11 UCSF GRCh37 1 149905829 149905829 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 112 127 212 0 ENST00000439741.2:c.690C>T p.Pro230= p.P230= ENST00000439741 NM_001145862.1 230 ccC/ccT 0 -MUC12 UCSF GRCh37 7 100634404 100634404 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 141 112 207 0 ENST00000379442.3:c.989C>T p.Pro330Leu p.P330L ENST00000379442 330 cCa/cTa 0 -MUC12 UCSF GRCh37 7 100636003 100636003 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 305 112 500 0 ENST00000379442.3:c.2588G>A p.Ser863Asn p.S863N ENST00000379442 863 aGc/aAc 0 -MUC16 UCSF GRCh37 19 9065187 9065187 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 113 218 0 ENST00000397910.4:c.22259C>T p.Ala7420Val p.A7420V ENST00000397910 NM_024690.2 7420 gCt/gTt 0 -MUC16 UCSF GRCh37 19 9088766 9088766 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 154 148 234 0 ENST00000397910.4:c.3049C>T p.Pro1017Ser p.P1017S ENST00000397910 NM_024690.2 1017 Cca/Tca 0 -MUC4 UCSF GRCh37 3 195507918 195507918 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 514 109 606 0 ENST00000463781.3:c.10533C>T p.Ser3511= p.S3511= ENST00000463781 NM_018406.6 3511 tcC/tcT 0 -MUC6 UCSF GRCh37 11 1017468 1017468 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 184 90 639 0 ENST00000421673.2:c.5333C>T p.Thr1778Ile p.T1778I ENST00000421673 NM_005961.2 1778 aCc/aTc 0 -MVK UCSF GRCh37 12 110028600 110028600 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 40 95 0 ENST00000228510.3:c.702G>A p.Leu234= p.L234= ENST00000228510 NM_001114185.1 234 ctG/ctA 0 -MYBL1 UCSF GRCh37 8 67478442 67478442 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 65 142 0 ENST00000522677.3:c.1987C>T p.Pro663Ser p.P663S ENST00000522677 NM_001080416.2 663 Cca/Tca 0 -MYBPC2 UCSF GRCh37 19 50940918 50940918 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 65 107 0 ENST00000357701.5:c.515G>A p.Ser172Asn p.S172N ENST00000357701 NM_004533.3 172 aGt/aAt 0 -MYBPH UCSF GRCh37 1 203138040 203138040 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 96 194 0 ENST00000255416.4:c.1411G>A p.Val471Ile p.V471I ENST00000255416 NM_004997.2 471 Gtc/Atc 0 -MYCN UCSF GRCh37 2 16085664 16085664 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 24 46 0 ENST00000281043.3:c.840C>T p.Val280= p.V280= ENST00000281043 NM_005378.4 280 gtC/gtT 0 -MYF6 UCSF GRCh37 12 81101749 81101749 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 56 83 1 ENST00000228641.3:c.251C>T p.Thr84Ile p.T84I ENST00000228641 NM_002469.2 84 aCc/aTc 0 -MYH1 UCSF GRCh37 17 10411716 10411716 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 77 182 0 ENST00000226207.5:c.1861G>A p.Ala621Thr p.A621T ENST00000226207 NM_005963.3 621 Gct/Act 0 -MYH1 UCSF GRCh37 17 10406468 10406468 + missense_variant Missense_Mutation SNP G G T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 54 218 1 ENST00000226207.5:c.2789C>A p.Ala930Asp p.A930D ENST00000226207 NM_005963.3 930 gCt/gAt 0 -MYH1 UCSF GRCh37 17 10411855 10411855 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 119 117 202 0 ENST00000226207.5:c.1722C>T p.Gly574= p.G574= ENST00000226207 NM_005963.3 574 ggC/ggT 0 -MYH14 UCSF GRCh37 19 50764778 50764778 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 13 55 0 ENST00000376970.2:c.2447G>A p.Ser816Asn p.S816N ENST00000376970 NM_024729.3 816 aGc/aAc 0 -MYH3 UCSF GRCh37 17 10532992 10532992 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 55 157 0 ENST00000583535.1:c.5718G>A p.Glu1906= p.E1906= ENST00000583535 NM_002470.3 1906 gaG/gaA 0 -MYH3 UCSF GRCh37 17 10555770 10555770 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 66 157 0 ENST00000583535.1:c.315C>T p.Asn105= p.N105= ENST00000583535 NM_002470.3 105 aaC/aaT 0 -MYH4 UCSF GRCh37 17 10369707 10369707 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 114 194 0 ENST00000255381.2:c.231C>T p.Val77= p.V77= ENST00000255381 NM_017533.2 77 gtC/gtT 0 -MYH8 UCSF GRCh37 17 10322311 10322311 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 132 75 166 0 ENST00000403437.2:c.247A>G p.Asn83Asp p.N83D ENST00000403437 NM_002472.2 83 Aac/Gac 0 -MYH8 UCSF GRCh37 17 10310022 10310022 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 66 161 0 ENST00000403437.2:c.2156G>A p.Gly719Asp p.G719D ENST00000403437 NM_002472.2 719 gGt/gAt 0 -MYLK3 UCSF GRCh37 16 46766561 46766561 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 18 13 0 ENST00000394809.4:c.1021G>A p.Glu341Lys p.E341K ENST00000394809 NM_182493.2 341 Gag/Aag 0 -MYNN UCSF GRCh37 3 169496819 169496819 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 81 127 0 ENST00000349841.5:c.530C>T p.Ser177Phe p.S177F ENST00000349841 NM_018657.4 177 tCt/tTt 0 -MYO10 UCSF GRCh37 5 16761595 16761595 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 59 127 0 ENST00000513610.1:c.1717C>T p.Leu573Phe p.L573F ENST00000513610 NM_012334.2 573 Ctc/Ttc 0 -MYO15A UCSF GRCh37 17 18077205 18077205 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 28 43 0 ENST00000205890.5:c.10461C>T p.Ala3487= p.A3487= ENST00000205890 NM_016239.3 3487 gcC/gcT 0 -MYO18B UCSF GRCh37 22 26422559 26422559 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 141 219 0 ENST00000536101.1:c.6619G>A p.Asp2207Asn p.D2207N ENST00000536101 2207 Gac/Aac 0 -MYO1D UCSF GRCh37 17 31082612 31082612 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 58 130 0 ENST00000318217.5:c.1365C>T p.Ile455= p.I455= ENST00000318217 NM_015194.1 455 atC/atT 0 -MYO1G UCSF GRCh37 7 45010558 45010558 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 14 47 0 ENST00000258787.7:c.947C>T p.Ala316Val p.A316V ENST00000258787 NM_033054.2 316 gCc/gTc 0 -MYO1H UCSF GRCh37 12 109847811 109847811 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 42 91 0 ENST00000310903.5:c.1219C>T p.Gln407Ter p.Q407* ENST00000310903 407 Caa/Taa 0 -MYO5A UCSF GRCh37 15 52611418 52611418 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 73 156 1 ENST00000399231.3:c.4998G>A p.Arg1666= p.R1666= ENST00000399231 NM_000259.3 1666 cgG/cgA 0 -MYO7A UCSF GRCh37 11 76917230 76917230 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 20 66 0 ENST00000409709.3:c.5725C>T p.Pro1909Ser p.P1909S ENST00000409709 NM_000260.3 1909 Cct/Tct 0 -MYO7A UCSF GRCh37 11 76853811 76853811 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 27 55 0 ENST00000409709.3:c.75G>A p.Gly25= p.G25= ENST00000409709 NM_000260.3 25 ggG/ggA 0 -MYO9A UCSF GRCh37 15 72170512 72170512 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 58 142 0 ENST00000356056.5:c.5800G>A p.Glu1934Lys p.E1934K ENST00000356056 NM_006901.3 1934 Gaa/Aaa 0 -MYO9A UCSF GRCh37 15 72122464 72122464 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 114 94 187 0 ENST00000356056.5:c.7026C>T p.Asn2342= p.N2342= ENST00000356056 NM_006901.3 2342 aaC/aaT 0 -MYOG UCSF GRCh37 1 203054982 203054982 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 49 82 0 ENST00000241651.4:c.108G>A p.Glu36= p.E36= ENST00000241651 NM_002479.5 36 gaG/gaA 0 -MYOM2 UCSF GRCh37 8 2017412 2017412 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 49 101 0 ENST00000262113.4:c.669C>T p.Asp223= p.D223= ENST00000262113 NM_003970.2 223 gaC/gaT 0 -MYOM3 UCSF GRCh37 1 24406551 24406551 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 46 104 0 ENST00000374434.3:c.2541G>A p.Gln847= p.Q847= ENST00000374434 NM_152372.3 847 caG/caA 0 -N4BP1 UCSF GRCh37 16 48596018 48596018 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 117 220 1 ENST00000262384.3:c.536C>T p.Pro179Leu p.P179L ENST00000262384 NM_153029.3 179 cCc/cTc 0 -N4BP2 UCSF GRCh37 4 40121568 40121568 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 57 128 0 ENST00000261435.6:c.1837G>A p.Asp613Asn p.D613N ENST00000261435 NM_018177.4 613 Gat/Aat 0 -NAA16 UCSF GRCh37 13 41894916 41894916 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 5 67 139 0 ENST00000379406.3:c.358C>T p.Leu120Phe p.L120F ENST00000379406 NM_024561.4 120 Ctc/Ttc 0 -NAA16 UCSF GRCh37 13 41893038 41893038 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 51 91 0 ENST00000379406.3:c.236G>A p.Ser79Asn p.S79N ENST00000379406 NM_024561.4 79 aGt/aAt 0 -NACA UCSF GRCh37 12 57114999 57114999 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 39 75 0 ENST00000356769.3:c.70+3237C>T *24* ENST00000356769 NM_001113202.1 0 -NACAD UCSF GRCh37 7 45122972 45122972 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 22 76 0 ENST00000490531.2:c.2807G>A p.Gly936Asp p.G936D ENST00000490531 NM_001146334.1 936 gGt/gAt 0 -NACC1 UCSF GRCh37 19 13246135 13246135 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 32 57 0 ENST00000292431.4:c.114C>T p.Gly38= p.G38= ENST00000292431 NM_052876.3 38 ggC/ggT 0 -NAPG UCSF GRCh37 18 10533534 10533534 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 17 62 0 ENST00000322897.6:c.211C>T p.Leu71Phe p.L71F ENST00000322897 NM_003826.2 71 Ctt/Ttt 0 -NAPRT1 UCSF GRCh37 8 144660099 144660099 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 19 43 0 ENST00000449291.2:c.241G>A p.Ala81Thr p.A81T ENST00000449291 81 Gcc/Acc 0 -NAPRT1 UCSF GRCh37 8 144657681 144657681 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 115 26 68 0 ENST00000449291.2:c.1203G>A p.Gly401= p.G401= ENST00000449291 401 ggG/ggA 0 -NARS2 UCSF GRCh37 11 78282414 78282414 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 42 103 0 ENST00000281038.5:c.217C>T p.Leu73Phe p.L73F ENST00000281038 NM_001243251.1 73 Ctt/Ttt 0 -NBAS UCSF GRCh37 2 15629017 15629017 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 103 214 0 ENST00000281513.5:c.1083+1G>A p.X361_splice ENST00000281513 NM_015909.3 0 -NBAS UCSF GRCh37 2 15601325 15601325 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 62 143 0 ENST00000281513.5:c.2339G>A p.Cys780Tyr p.C780Y ENST00000281513 NM_015909.3 780 tGt/tAt 0 -NBEA UCSF GRCh37 13 36180590 36180590 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 73 178 0 ENST00000400445.3:c.7324C>T p.Pro2442Ser p.P2442S ENST00000400445 NM_015678.4 2442 Cca/Tca 0 -NBEA UCSF GRCh37 13 35747630 35747630 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 4 70 158 0 ENST00000400445.3:c.4453G>A p.Glu1485Lys p.E1485K ENST00000400445 NM_015678.4 1485 Gaa/Aaa 0 -NBEAL2 UCSF GRCh37 3 47041495 47041495 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 61 89 0 ENST00000450053.3:c.3906C>T p.Pro1302= p.P1302= ENST00000450053 NM_015175.2 1302 ccC/ccT 0 -NBPF1 UCSF GRCh37 1 16902964 16902964 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 546 63 861 0 ENST00000430580.2:c.1917C>T p.Val639= p.V639= ENST00000430580 NM_017940.4 639 gtC/gtT 0 -NCAN UCSF GRCh37 19 19330107 19330107 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 14 17 0 ENST00000252575.6:c.457G>A p.Val153Met p.V153M ENST00000252575 NM_004386.2 153 Gtg/Atg 0 -NCAN UCSF GRCh37 19 19339079 19339079 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 75 127 0 ENST00000252575.6:c.2650G>A p.Val884Ile p.V884I ENST00000252575 NM_004386.2 884 Gtt/Att 0 -NCAPD2 UCSF GRCh37 12 6626819 6626819 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 49 44 121 0 ENST00000315579.5:c.1378A>G p.Met460Val p.M460V ENST00000315579 NM_014865.3 460 Atg/Gtg 0 -NCAPD2 UCSF GRCh37 12 6626830 6626830 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 38 110 0 ENST00000315579.5:c.1389G>A p.Gln463= p.Q463= ENST00000315579 NM_014865.3 463 caG/caA 0 -NCAPD2 UCSF GRCh37 12 6634766 6634766 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 56 109 0 ENST00000315579.5:c.2232G>A p.Gln744= p.Q744= ENST00000315579 NM_014865.3 744 caG/caA 0 -NCAPG2 UCSF GRCh37 7 158445019 158445019 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 156 110 194 0 ENST00000356309.3:c.2900G>A p.Arg967Gln p.R967Q ENST00000356309 NM_017760.5 967 cGg/cAg 0 -NCF2 UCSF GRCh37 1 183559494 183559494 + 5_prime_UTR_variant 5'UTR SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 48 72 0 ENST00000367535.3:c.-30C>T *10* ENST00000367535 NM_000433.3 0 -NCF2 UCSF GRCh37 1 183532372 183532372 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 53 132 0 ENST00000367535.3:c.1248G>A p.Gln416= p.Q416= ENST00000367535 NM_000433.3 416 caG/caA 0 -NCKAP1L UCSF GRCh37 12 54929930 54929930 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 79 56 154 0 ENST00000293373.6:c.2974G>A p.Glu992Lys p.E992K ENST00000293373 NM_005337.4 992 Gag/Aag 0 -NCLN UCSF GRCh37 19 3207468 3207468 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 51 70 0 ENST00000246117.4:c.1632+1G>A p.X544_splice ENST00000246117 NM_020170.3 0 -NCOR1 UCSF GRCh37 17 16042446 16042446 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 18 79 0 ENST00000268712.3:c.1228G>A p.Ala410Thr p.A410T ENST00000268712 NM_006311.3 410 Gca/Aca 0 -NDUFA5 UCSF GRCh37 7 123190599 123190599 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 98 159 0 ENST00000355749.2:c.108G>A p.Glu36= p.E36= ENST00000355749 NM_005000.2 36 gaG/gaA 0 -NDUFA8 UCSF GRCh37 9 124906657 124906657 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 121 45 120 0 ENST00000373768.3:c.382G>A p.Val128Ile p.V128I ENST00000373768 NM_014222.2 128 Gtc/Atc 0 -NDUFB1 UCSF GRCh37 14 92583900 92583900 + missense_variant Missense_Mutation SNP C C G NOVEL P10_Rec Untested WXS Illumina HiSeq 50 45 110 0 ENST00000553514.1:c.82G>C p.Asp28His p.D28H ENST00000553514 28 Gac/Cac 0 -NDUFB8 UCSF GRCh37 10 102286283 102286283 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 53 100 0 ENST00000299166.4:c.341G>A p.Arg114Lys p.R114K ENST00000299166 NM_005004.2 114 aGg/aAg 0 -NDUFB9 UCSF GRCh37 8 125551466 125551466 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 178 58 112 0 ENST00000276689.3:c.39G>A p.Gln13= p.Q13= ENST00000276689 NM_001278646.1 13 caG/caA 0 -NEB UCSF GRCh37 2 152550904 152550904 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0011 P10_Rec Untested WXS Illumina HiSeq 156 139 243 0 ENST00000172853.10:c.1829G>A p.Gly610Glu p.G610E ENST00000172853 610 gGa/gAa 0 -NEB UCSF GRCh37 2 152490274 152490274 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 134 131 220 0 ENST00000172853.10:c.8890-2941C>T *2964* ENST00000172853 0 -NEGR1 UCSF GRCh37 1 72400806 72400806 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 46 97 0 ENST00000357731.5:c.365C>T p.Thr122Ile p.T122I ENST00000357731 NM_173808.2 122 aCt/aTt 0 -NEIL1 UCSF GRCh37 15 75641296 75641296 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 30 53 0 ENST00000355059.4:c.50C>T p.Ala17Val p.A17V ENST00000355059 NM_024608.3 17 gCc/gTc 0 -NEK6 UCSF GRCh37 9 127101923 127101923 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 85 103 0 ENST00000320246.5:c.696C>T p.Ser232= p.S232= ENST00000320246 NM_014397.5 232 tcC/tcT 0 -NES UCSF GRCh37 1 156640343 156640343 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 76 144 0 ENST00000368223.3:c.3637G>A p.Asp1213Asn p.D1213N ENST00000368223 NM_006617.1 1213 Gat/Aat 0 -NES UCSF GRCh37 1 156642923 156642923 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 32 71 0 ENST00000368223.3:c.1057C>T p.Pro353Ser p.P353S ENST00000368223 NM_006617.1 353 Cca/Tca 0 -NET1 UCSF GRCh37 10 5488735 5488735 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 115 50 96 0 ENST00000355029.4:c.256-5058G>A *86* ENST00000355029 NM_001047160.2 0 -NEURL4 UCSF GRCh37 17 7227496 7227496 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 48 99 0 ENST00000399464.2:c.1993C>T p.Pro665Ser p.P665S ENST00000399464 NM_032442.2 665 Ccc/Tcc 0 -NFAT5 UCSF GRCh37 16 69727984 69727984 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 60 140 0 ENST00000354436.2:c.4202C>T p.Pro1401Leu p.P1401L ENST00000354436 NM_006599.3 1401 cCt/cTt 0 -NFATC2 UCSF GRCh37 20 50049043 50049043 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 24 30 0 ENST00000396009.3:c.2283C>T p.Ser761= p.S761= ENST00000396009 NM_001258297.1 761 agC/agT 0 -NFKB1 UCSF GRCh37 4 103528456 103528456 + missense_variant Missense_Mutation SNP G G A snp132_rs111293796 P10_Rec Untested WXS Illumina HiSeq 71 69 113 0 ENST00000394820.4:c.2101G>A p.Ala701Thr p.A701T ENST00000394820 701 Gca/Aca 0 -NFKB2 UCSF GRCh37 10 104156010 104156010 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 41 80 0 ENST00000369966.3:c.22G>A p.Gly8Ser p.G8S ENST00000369966 NM_001077494.2 8 Ggt/Agt 0 -NFRKB UCSF GRCh37 11 129755479 129755479 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 43 70 0 ENST00000446488.3:c.491G>A p.Ser164Asn p.S164N ENST00000446488 NM_001143835.1 164 aGt/aAt 0 -NFYA UCSF GRCh37 6 41048556 41048556 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 44 108 0 ENST00000341376.6:c.82G>A p.Gly28Ser p.G28S ENST00000341376 NM_002505.4 28 Ggt/Agt 0 -NGFR UCSF GRCh37 17 47590187 47590187 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 42 87 0 ENST00000172229.3:c.1100G>A p.Gly367Asp p.G367D ENST00000172229 NM_002507.3 367 gGc/gAc 0 -NID2 UCSF GRCh37 14 52496330 52496330 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 59 121 0 ENST00000216286.5:c.2336G>A p.Gly779Glu p.G779E ENST00000216286 NM_007361.3 779 gGg/gAg 0 -NINJ2 UCSF GRCh37 12 772650 772650 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 66 130 0 ENST00000305108.4:c.15C>T p.Ser5= p.S5= ENST00000305108 NM_016533.4 5 tcC/tcT 0 -NKAPL UCSF GRCh37 6 28227951 28227951 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 36 96 0 ENST00000343684.3:c.802C>T p.Gln268Ter p.Q268* ENST00000343684 NM_001007531.2 268 Cag/Tag 0 -NLGN4X UCSF GRCh37 X 5947330 5947330 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 89 177 0 ENST00000275857.6:c.616G>A p.Gly206Arg p.G206R ENST00000275857 NM_020742.2 206 Gga/Aga 0 -NLGN4X UCSF GRCh37 X 5821576 5821576 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 55 150 0 ENST00000275857.6:c.1143C>T p.Asp381= p.D381= ENST00000275857 NM_020742.2 381 gaC/gaT 0 -NLRP4 UCSF GRCh37 19 56390315 56390315 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 27 60 0 ENST00000301295.6:c.2852C>T p.Ala951Val p.A951V ENST00000301295 NM_134444.4 951 gCc/gTc 0 -NLRP4 UCSF GRCh37 19 56370596 56370596 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 49 179 0 ENST00000301295.6:c.1837G>A p.Glu613Lys p.E613K ENST00000301295 NM_134444.4 613 Gag/Aag 0 -NLRX1 UCSF GRCh37 11 119054035 119054035 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 52 111 0 ENST00000292199.2:c.2815G>A p.Asp939Asn p.D939N ENST00000292199 NM_024618.2 939 Gat/Aat 0 -NLRX1 UCSF GRCh37 11 119052980 119052980 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 58 88 0 ENST00000292199.2:c.2532C>T p.Tyr844= p.Y844= ENST00000292199 NM_024618.2 844 taC/taT 0 -NME4 UCSF GRCh37 16 450246 450246 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 46 127 0 ENST00000219479.2:c.468G>A p.Val156= p.V156= ENST00000219479 NM_005009.2 156 gtG/gtA 0 -NOC2L UCSF GRCh37 1 894347 894347 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 44 60 0 ENST00000327044.6:c.141C>T p.Ala47= p.A47= ENST00000327044 NM_015658.3 47 gcC/gcT 0 -NOD2 UCSF GRCh37 16 50745116 50745116 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 69 96 0 ENST00000300589.2:c.1294G>A p.Ala432Thr p.A432T ENST00000300589 NM_022162.1 432 Gcg/Acg 0 -NOL8 UCSF GRCh37 9 95083950 95083950 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 13 41 0 ENST00000442668.2:c.281G>A p.Arg94Lys p.R94K ENST00000442668 NM_017948.5 94 aGa/aAa 0 -NONO UCSF GRCh37 X 70510605 70510605 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 53 110 0 ENST00000276079.8:c.118C>T p.Pro40Ser p.P40S ENST00000276079 NM_007363.4 40 Cca/Tca 0 -NONO UCSF GRCh37 X 70518341 70518341 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 110 196 0 ENST00000276079.8:c.1154G>A p.Gly385Asp p.G385D ENST00000276079 NM_007363.4 385 gGt/gAt 0 -NOP2 UCSF GRCh37 12 6677046 6677046 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 62 102 0 ENST00000322166.5:c.39G>A p.Gly13= p.G13= ENST00000322166 NM_001258308.1 13 ggG/ggA 0 -NOTCH1 UCSF GRCh37 9 139395012 139395012 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 47 76 0 ENST00000277541.6:c.5926G>A p.Val1976Ile p.V1976I ENST00000277541 NM_017617.3 1976 Gtc/Atc 0 -NOTCH2 UCSF GRCh37 1 120466339 120466339 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 51 137 0 ENST00000256646.2:c.4780G>A p.Gly1594Ser p.G1594S ENST00000256646 NM_024408.3 1594 Ggt/Agt 0 -NOTCH4 UCSF GRCh37 6 32168734 32168734 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 38 65 0 ENST00000375023.3:c.4189C>T p.Pro1397Ser p.P1397S ENST00000375023 NM_004557.3 1397 Ccg/Tcg 0 -NOTCH4 UCSF GRCh37 6 32187934 32187934 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 45 66 0 ENST00000375023.3:c.1287C>T p.Cys429= p.C429= ENST00000375023 NM_004557.3 429 tgC/tgT 0 -NPAS1 UCSF GRCh37 19 47535576 47535576 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 30 72 0 ENST00000449844.2:c.399C>T p.Val133= p.V133= ENST00000449844 NM_002517.2 133 gtC/gtT 0 -NPAS2 UCSF GRCh37 2 101606778 101606778 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 59 101 0 ENST00000335681.5:c.1888C>T p.Leu630= p.L630= ENST00000335681 NM_002518.3 630 Cta/Tta 0 -NPC2 UCSF GRCh37 14 74953067 74953067 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 16 14 33 0 ENST00000555619.1:c.155G>A p.Gly52Glu p.G52E ENST00000555619 NM_006432.3 52 gGa/gAa 0 -NPEPL1 UCSF GRCh37 20 57288599 57288599 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 29 59 0 ENST00000356091.6:c.1125G>A p.Gln375= p.Q375= ENST00000356091 NM_024663.3 375 caG/caA 0 -NPHP3 UCSF GRCh37 3 132419247 132419247 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 96 80 202 0 ENST00000337331.5:c.1674C>T p.Ser558= p.S558= ENST00000337331 NM_153240.4 558 tcC/tcT 0 -NPHS2 UCSF GRCh37 1 179521766 179521766 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 28 61 0 ENST00000367615.4:c.845C>T p.Ala282Val p.A282V ENST00000367615 NM_014625.2 282 gCt/gTt 0 -NPM3 UCSF GRCh37 10 103541607 103541607 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 81 172 0 ENST00000370110.5:c.423G>A p.Thr141= p.T141= ENST00000370110 NM_006993.2 141 acG/acA 0 -NPR2 UCSF GRCh37 9 35806481 35806481 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 65 131 0 ENST00000342694.2:c.2465C>T p.Ala822Val p.A822V ENST00000342694 NM_003995.3 822 gCc/gTc 0 -NQO2 UCSF GRCh37 6 3019826 3019826 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 60 110 0 ENST00000338130.2:c.633G>A p.Arg211= p.R211= ENST00000338130 211 agG/agA 0 -NR1H2 UCSF GRCh37 19 50880868 50880868 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 41 99 0 ENST00000253727.5:c.6C>T p.Ser2= p.S2= ENST00000253727 NM_007121.5 2 tcC/tcT 0 -NR1I2 UCSF GRCh37 3 119529028 119529028 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 12 34 0 ENST00000393716.2:c.318C>T p.Gly106= p.G106= ENST00000393716 NM_003889.3 106 ggC/ggT 0 -NR1I3 UCSF GRCh37 1 161199705 161199705 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 48 114 0 ENST00000367982.4:c.941C>T p.Ala314Val p.A314V ENST00000367982 314 gCg/gTg 0 -NRIP1 UCSF GRCh37 21 16338166 16338166 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 82 169 0 ENST00000318948.4:c.2348G>A p.Gly783Asp p.G783D ENST00000318948 NM_003489.3 783 gGt/gAt 0 -NRK UCSF GRCh37 X 105139427 105139427 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 114 138 0 ENST00000243300.9:c.491G>A p.Gly164Asp p.G164D ENST00000243300 NM_198465.2 164 gGc/gAc 0 -NRXN1 UCSF GRCh37 2 50149265 50149265 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 62 132 0 ENST00000406316.2:c.4251C>T p.Ile1417= p.I1417= ENST00000406316 NM_004801.4 1417 atC/atT 0 -NRXN2 UCSF GRCh37 11 64418013 64418013 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 75 140 0 ENST00000265459.6:c.3016G>A p.Val1006Met p.V1006M ENST00000265459 NM_015080.3 1006 Gtg/Atg 0 -NSD1 UCSF GRCh37 5 176562676 176562676 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 98 222 0 ENST00000439151.2:c.572C>T p.Ala191Val p.A191V ENST00000439151 NM_022455.4 191 gCc/gTc 0 -NSD1 UCSF GRCh37 5 176562370 176562370 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 76 168 0 ENST00000439151.2:c.266G>A p.Gly89Glu p.G89E ENST00000439151 NM_022455.4 89 gGg/gAg 0 -NSF UCSF GRCh37 17 44788375 44788375 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 59 166 0 ENST00000398238.4:c.1517G>A p.Gly506Asp p.G506D ENST00000398238 NM_006178.3 506 gGt/gAt 0 -NSUN7 UCSF GRCh37 4 40778101 40778101 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 43 161 0 ENST00000381782.2:c.861G>A p.Lys287= p.K287= ENST00000381782 NM_024677.4 287 aaG/aaA 0 -NT5C2 UCSF GRCh37 10 104934647 104934647 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 88 177 0 ENST00000343289.5:c.69C>T p.Ala23= p.A23= ENST00000343289 NM_012229.4 23 gcC/gcT 0 -NTNG2 UCSF GRCh37 9 135073502 135073502 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 35 90 0 ENST00000393229.3:c.363C>T p.Ala121= p.A121= ENST00000393229 NM_032536.2 121 gcC/gcT 0 -NTRK2 UCSF GRCh37 9 87482194 87482194 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 167 89 150 0 ENST00000323115.4:c.1433C>T p.Ala478Val p.A478V ENST00000323115 478 gCc/gTc 0 -NUDT21 UCSF GRCh37 16 56481862 56481862 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 59 122 0 ENST00000300291.5:c.156C>T p.Pro52= p.P52= ENST00000300291 NM_007006.2 52 ccC/ccT 0 -NUMB UCSF GRCh37 14 73749202 73749202 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 39 64 0 ENST00000355058.3:c.961G>A p.Glu321Lys p.E321K ENST00000355058 321 Gaa/Aaa 0 -NUMB UCSF GRCh37 14 73789900 73789900 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 34 88 0 ENST00000355058.3:c.139G>A p.Val47Ile p.V47I ENST00000355058 47 Gta/Ata 0 -NUP107 UCSF GRCh37 12 69125440 69125440 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 48 130 0 ENST00000229179.4:c.1939G>A p.Asp647Asn p.D647N ENST00000229179 NM_020401.2 647 Gat/Aat 0 -NUP107 UCSF GRCh37 12 69125424 69125424 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 44 110 0 ENST00000229179.4:c.1923G>A p.Glu641= p.E641= ENST00000229179 NM_020401.2 641 gaG/gaA 0 -NUP133 UCSF GRCh37 1 229588355 229588355 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 53 131 0 ENST00000261396.3:c.3016G>A p.Glu1006Lys p.E1006K ENST00000261396 NM_018230.2 1006 Gag/Aag 0 -NUP133 UCSF GRCh37 1 229643896 229643896 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 20 43 0 ENST00000261396.3:c.101G>A p.Arg34Lys p.R34K ENST00000261396 NM_018230.2 34 aGg/aAg 0 -NUP153 UCSF GRCh37 6 17661921 17661921 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 79 215 0 ENST00000262077.2:c.1358G>A p.Arg453Lys p.R453K ENST00000262077 NM_001278210.1 453 aGa/aAa 0 -NUP155 UCSF GRCh37 5 37328498 37328498 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 45 121 0 ENST00000231498.3:c.1838C>T p.Pro613Leu p.P613L ENST00000231498 NM_153485.2 613 cCc/cTc 0 -NUP210 UCSF GRCh37 3 13432778 13432778 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 21 55 0 ENST00000254508.5:c.466G>A p.Val156Ile p.V156I ENST00000254508 NM_024923.3 156 Gtc/Atc 0 -NUP88 UCSF GRCh37 17 5290097 5290097 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 120 86 220 0 ENST00000573584.1:c.2093G>A p.Ser698Asn p.S698N ENST00000573584 NM_002532.4 698 aGt/aAt 0 -NXF1 UCSF GRCh37 11 62563641 62563641 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 92 185 0 ENST00000294172.2:c.1358G>A p.Arg453Gln p.R453Q ENST00000294172 NM_006362.4 453 cGg/cAg 0 -NXF3 UCSF GRCh37 X 102334323 102334323 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 142 124 237 1 ENST00000395065.3:c.1299C>T p.Asp433= p.D433= ENST00000395065 NM_022052.1 433 gaC/gaT 0 -NXNL1 UCSF GRCh37 19 17566756 17566756 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 10 21 0 ENST00000301944.2:c.339C>T p.Arg113= p.R113= ENST00000301944 NM_138454.1 113 cgC/cgT 0 -OAS1 UCSF GRCh37 12 113354501 113354501 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 69 175 0 ENST00000202917.5:c.842C>T p.Pro281Leu p.P281L ENST00000202917 NM_016816.2 281 cCc/cTc 0 -OAS1 UCSF GRCh37 12 113354419 113354419 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 65 137 0 ENST00000202917.5:c.760G>A p.Gly254Arg p.G254R ENST00000202917 NM_016816.2 254 Gga/Aga 0 -OBSCN UCSF GRCh37 1 228461576 228461576 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 24 43 0 ENST00000422127.1:c.5243C>T p.Ala1748Val p.A1748V ENST00000422127 NM_001098623.2 1748 gCc/gTc 0 -OBSCN UCSF GRCh37 1 228522236 228522236 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 15 16 0 ENST00000422127.1:c.16078C>T p.Pro5360Ser p.P5360S ENST00000422127 NM_001098623.2 5360 Cct/Tct 0 -OBSCN UCSF GRCh37 1 228552705 228552705 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 9 23 0 ENST00000422127.1:c.18865C>T p.Pro6289Ser p.P6289S ENST00000422127 NM_001098623.2 6289 Ccc/Tcc 0 -OBSCN UCSF GRCh37 1 228557687 228557687 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 33 73 0 ENST00000422127.1:c.20012C>T p.Thr6671Ile p.T6671I ENST00000422127 NM_001098623.2 6671 aCc/aTc 0 -OBSCN UCSF GRCh37 1 228559004 228559004 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 10 25 0 ENST00000422127.1:c.20525C>T p.Ser6842Phe p.S6842F ENST00000422127 NM_001098623.2 6842 tCc/tTc 0 -OBSCN UCSF GRCh37 1 228432260 228432260 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 91 161 0 ENST00000422127.1:c.3469C>T p.Leu1157= p.L1157= ENST00000422127 NM_001098623.2 1157 Ctg/Ttg 0 -OBSL1 UCSF GRCh37 2 220423059 220423059 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 15 28 0 ENST00000404537.1:c.3349G>A p.Asp1117Asn p.D1117N ENST00000404537 NM_015311.2 1117 Gac/Aac 0 -OCRL UCSF GRCh37 X 128691333 128691333 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 50 123 0 ENST00000371113.4:c.270G>A p.Trp90Ter p.W90* ENST00000371113 NM_000276.3 90 tgG/tgA 0 -ODF3L2 UCSF GRCh37 19 463950 463950 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 17 28 0 ENST00000315489.4:c.764C>T p.Ala255Val p.A255V ENST00000315489 NM_182577.2 255 gCt/gTt 0 -ODZ1 UCSF GRCh37 X 123539019 123539019 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 74 141 0 ENST00000371130.3:c.5232C>T p.Ile1744= p.I1744= ENST00000371130 NM_014253.3 1744 atC/atT 0 -ODZ1 UCSF GRCh37 X 123540204 123540204 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 116 116 198 0 ENST00000371130.3:c.5097C>T p.Asn1699= p.N1699= ENST00000371130 NM_014253.3 1699 aaC/aaT 0 -ODZ1 UCSF GRCh37 X 123556420 123556420 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 70 169 0 ENST00000371130.3:c.4152C>T p.Asn1384= p.N1384= ENST00000371130 NM_014253.3 1384 aaC/aaT 0 -ODZ2 UCSF GRCh37 5 167689120 167689120 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 64 128 0 ENST00000518659.1:c.7630G>A p.Val2544Ile p.V2544I ENST00000518659 NM_001122679.1 2544 Gtc/Atc 0 -ODZ3 UCSF GRCh37 4 183664402 183664402 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 100 202 0 ENST00000511685.1:c.3459G>A p.Gly1153= p.G1153= ENST00000511685 1153 ggG/ggA 0 -ODZ4 UCSF GRCh37 11 78433848 78433848 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 71 169 0 ENST00000278550.7:c.3665G>A p.Gly1222Asp p.G1222D ENST00000278550 NM_001098816.2 1222 gGc/gAc 0 -OFD1 UCSF GRCh37 X 13764556 13764556 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 105 209 0 ENST00000340096.6:c.636G>A p.Arg212= p.R212= ENST00000340096 NM_003611.2 212 cgG/cgA 0 -OGDHL UCSF GRCh37 10 50948755 50948755 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 19 46 0 ENST00000374103.4:c.2140+1G>A p.X714_splice ENST00000374103 NM_018245.2 0 -OGT UCSF GRCh37 X 70757678 70757678 + splice_acceptor_variant Splice_Site SNP G G T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 81 167 0 ENST00000373719.3:c.219-1G>T p.X73_splice ENST00000373719 NM_181673.2 0 -OPLAH UCSF GRCh37 8 145109807 145109807 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 25 50 0 ENST00000426825.1:c.2419C>T p.Leu807= p.L807= ENST00000426825 NM_017570.3 807 Ctg/Ttg 0 -OR10G2 UCSF GRCh37 14 22102456 22102456 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 80 169 0 ENST00000542433.1:c.543C>T p.Tyr181= p.Y181= ENST00000542433 NM_001005466.1 181 taC/taT 0 -OR10G9 UCSF GRCh37 11 123894090 123894090 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 62 170 0 ENST00000375024.1:c.371C>T p.Ala124Val p.A124V ENST00000375024 NM_001001953.1 124 gCc/gTc 0 -OR10K1 UCSF GRCh37 1 158435940 158435940 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 133 201 0 ENST00000289451.2:c.589C>T p.Leu197= p.L197= ENST00000289451 NM_001004473.1 197 Ctg/Ttg 0 -OR10K1 UCSF GRCh37 1 158436158 158436158 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 107 209 0 ENST00000289451.2:c.807C>T p.Ser269= p.S269= ENST00000289451 NM_001004473.1 269 agC/agT 0 -OR13C8 UCSF GRCh37 9 107331735 107331735 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 179 107 195 0 ENST00000335040.1:c.287G>A p.Gly96Glu p.G96E ENST00000335040 NM_001004483.1 96 gGg/gAg 0 -OR2G6 UCSF GRCh37 1 248684977 248684977 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 105 87 183 0 ENST00000343414.4:c.30G>A p.Lys10= p.K10= ENST00000343414 NM_001013355.1 10 aaG/aaA 0 -OR2J3 UCSF GRCh37 6 29080164 29080164 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 115 118 210 0 ENST00000377169.1:c.497C>T p.Thr166Ile p.T166I ENST00000377169 NM_001005216.3 166 aCc/aTc 0 -OR2T27 UCSF GRCh37 1 248814051 248814051 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 11 110 0 ENST00000344889.3:c.135G>A p.Lys45= p.K45= ENST00000344889 NM_001001824.1 45 aaG/aaA 0 -OR4B1 UCSF GRCh37 11 48238562 48238562 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 110 199 0 ENST00000309562.2:c.201G>A p.Val67= p.V67= ENST00000309562 NM_001005470.1 67 gtG/gtA 0 -OR4C3 UCSF GRCh37 11 48347418 48347418 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 18 253 0 ENST00000319856.4:c.926C>T p.Pro309Leu p.P309L ENST00000319856 NM_001004702.1 309 cCa/cTa 0 -OR4K13 UCSF GRCh37 14 20502272 20502272 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 79 161 0 ENST00000315693.2:c.646G>A p.Val216Ile p.V216I ENST00000315693 NM_001004714.1 216 Gtc/Atc 0 -OR4N4 UCSF GRCh37 15 22382483 22382483 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 206 96 236 0 ENST00000328795.4:c.11C>T p.Ala4Val p.A4V ENST00000328795 NM_001005241.2 4 gCa/gTa 0 -OR4Q3 UCSF GRCh37 14 20216283 20216283 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 179 84 202 1 ENST00000331723.1:c.697G>A p.Gly233Ser p.G233S ENST00000331723 NM_172194.1 233 Ggc/Agc 0 -OR51L1 UCSF GRCh37 11 5020514 5020514 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 121 187 0 ENST00000321543.1:c.302C>T p.Ala101Val p.A101V ENST00000321543 NM_001004755.1 101 gCt/gTt 0 -OR52A5 UCSF GRCh37 11 5153120 5153120 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 93 193 0 ENST00000307388.1:c.753C>T p.Phe251= p.F251= ENST00000307388 NM_001005160.2 251 ttC/ttT 0 -OR5AK2 UCSF GRCh37 11 56757227 56757227 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 79 173 0 ENST00000326855.2:c.839C>T p.Thr280Ile p.T280I ENST00000326855 NM_001005323.1 280 aCa/aTa 0 -OR5L2 UCSF GRCh37 11 55595176 55595176 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 138 221 0 ENST00000378397.1:c.482C>T p.Ser161Phe p.S161F ENST00000378397 NM_001004739.1 161 tCc/tTc 0 -OR5P3 UCSF GRCh37 11 7847083 7847083 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 80 174 0 ENST00000328375.1:c.437G>A p.Gly146Asp p.G146D ENST00000328375 NM_153445.1 146 gGc/gAc 0 -OR6S1 UCSF GRCh37 14 21109787 21109787 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 99 102 195 0 ENST00000320704.3:c.64C>T p.Leu22Phe p.L22F ENST00000320704 NM_001001968.1 22 Ctc/Ttc 0 -OR6T1 UCSF GRCh37 11 123813611 123813611 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 118 104 216 0 ENST00000321252.2:c.935C>T p.Ala312Val p.A312V ENST00000321252 NM_001005187.1 312 gCt/gTt 0 -OR7C2 UCSF GRCh37 19 15053082 15053082 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 90 186 0 ENST00000248072.3:c.782C>T p.Ser261Phe p.S261F ENST00000248072 NM_012377.1 261 tCt/tTt 0 -OR9K2 UCSF GRCh37 12 55524499 55524499 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 79 168 0 ENST00000305377.5:c.947G>A p.Arg316Lys p.R316K ENST00000305377 NM_001005243.1 316 aGg/aAg 0 -OR9Q1 UCSF GRCh37 11 57947297 57947297 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 60 159 0 ENST00000335397.3:c.381C>T p.Cys127= p.C127= ENST00000335397 NM_001005212.3 127 tgC/tgT 0 -ORC1 UCSF GRCh37 1 52840505 52840505 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 23 87 0 ENST00000371566.1:c.2368C>T p.Leu790= p.L790= ENST00000371566 790 Ctg/Ttg 0 -OSBP UCSF GRCh37 11 59344079 59344079 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 137 130 240 0 ENST00000263847.1:c.2395G>A p.Asp799Asn p.D799N ENST00000263847 NM_002556.2 799 Gac/Aac 0 -OSBPL9 UCSF GRCh37 1 52231629 52231629 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 65 142 0 ENST00000428468.1:c.914G>A p.Gly305Asp p.G305D ENST00000428468 305 gGc/gAc 0 -OTC UCSF GRCh37 X 38271253 38271253 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 114 89 223 0 ENST00000039007.4:c.1005+1G>A p.X335_splice ENST00000039007 NM_000531.5 0 -OTC UCSF GRCh37 X 38229063 38229063 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 56 134 0 ENST00000039007.4:c.231G>A p.Leu77= p.L77= ENST00000039007 NM_000531.5 77 ttG/ttA 0 -OTOF UCSF GRCh37 2 26690087 26690087 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 78 113 0 ENST00000272371.2:c.4242G>A p.Glu1414= p.E1414= ENST00000272371 NM_194248.2 1414 gaG/gaA 0 -OTOF UCSF GRCh37 2 26696403 26696403 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 31 70 0 ENST00000272371.2:c.3441G>A p.Arg1147= p.R1147= ENST00000272371 NM_194248.2 1147 cgG/cgA 0 -OTOL1 UCSF GRCh37 3 161214879 161214879 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 138 95 243 0 ENST00000327928.4:c.284C>T p.Ala95Val p.A95V ENST00000327928 NM_001080440.1 95 gCt/gTt 0 -OTOP2 UCSF GRCh37 17 72927040 72927040 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 67 96 0 ENST00000331427.4:c.1310C>T p.Thr437Ile p.T437I ENST00000331427 NM_178160.2 437 aCc/aTc 0 -OTUD7B UCSF GRCh37 1 149931686 149931686 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 68 131 0 ENST00000369135.4:c.762G>A p.Trp254Ter p.W254* ENST00000369135 NM_020205.3 254 tgG/tgA 0 -P2RY11 UCSF GRCh37 19 10225389 10225389 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 31 64 0 ENST00000321826.4:c.1100C>T p.Pro367Leu p.P367L ENST00000321826 NM_002566.4 367 cCc/cTc 0 -P2RY2 UCSF GRCh37 11 72945864 72945864 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 34 56 0 ENST00000311131.2:c.660C>T p.Leu220= p.L220= ENST00000311131 NM_176072.2 220 ctC/ctT 0 -P2RY2 UCSF GRCh37 11 72946126 72946126 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 62 98 0 ENST00000311131.2:c.922C>T p.Leu308= p.L308= ENST00000311131 NM_176072.2 308 Ctg/Ttg 0 -PABPC3 UCSF GRCh37 13 25671444 25671444 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 133 87 194 0 ENST00000281589.3:c.1108C>T p.Arg370Cys p.R370C ENST00000281589 NM_030979.2 370 Cgc/Tgc 0 -PABPC4 UCSF GRCh37 1 40038140 40038140 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 76 183 0 ENST00000372857.3:c.312G>A p.Lys104= p.K104= ENST00000372857 NM_003819.3 104 aaG/aaA 0 -PACRGL UCSF GRCh37 4 20706157 20706157 + splice_donor_variant,NMD_transcript_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 39 112 0 ENST00000471979.2:c.52+1G>A p.X18_splice ENST00000471979 0 -PADI3 UCSF GRCh37 1 17592181 17592181 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 46 147 0 ENST00000375460.3:c.374G>A p.Cys125Tyr p.C125Y ENST00000375460 NM_016233.2 125 tGt/tAt 0 -PAF1 UCSF GRCh37 19 39880350 39880350 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 92 146 0 ENST00000221265.3:c.222C>T p.Leu74= p.L74= ENST00000221265 NM_019088.3 74 ctC/ctT 0 -PAK1 UCSF GRCh37 11 77064613 77064613 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 61 160 0 ENST00000356341.3:c.804G>A p.Lys268= p.K268= ENST00000356341 NM_002576.4 268 aaG/aaA 0 -PAK7 UCSF GRCh37 20 9561506 9561506 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 74 172 0 ENST00000353224.5:c.276C>T p.Ile92= p.I92= ENST00000353224 NM_177990.2 92 atC/atT 0 -PALM3 UCSF GRCh37 19 14166215 14166215 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 6 26 0 ENST00000340790.4:c.377C>T p.Ser126Phe p.S126F ENST00000340790 NM_001145028.1 126 tCc/tTc 0 -PAOX UCSF GRCh37 10 135197700 135197700 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 58 117 0 ENST00000278060.5:c.1105G>A p.Val369Ile p.V369I ENST00000278060 NM_152911.2 369 Gtc/Atc 0 -PAPD7 UCSF GRCh37 5 6738823 6738823 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 84 193 0 ENST00000230859.6:c.118G>A p.Gly40Ser p.G40S ENST00000230859 NM_001171805.1 40 Ggt/Agt 0 -PAPLN UCSF GRCh37 14 73726113 73726113 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 33 54 0 ENST00000554301.1:c.1845C>T p.Pro615= p.P615= ENST00000554301 615 ccC/ccT 0 -PAQR6 UCSF GRCh37 1 156215982 156215982 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 28 71 0 ENST00000292291.5:c.111C>T p.Asp37= p.D37= ENST00000292291 NM_198406.2 37 gaC/gaT 0 -PAQR9 UCSF GRCh37 3 142681301 142681301 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 57 89 0 ENST00000340634.3:c.878G>A p.Ser293Asn p.S293N ENST00000340634 NM_198504.2 293 aGc/aAc 0 -PARD3 UCSF GRCh37 10 34408598 34408598 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 18 35 0 ENST00000374789.3:c.3620G>A p.Arg1207Gln p.R1207Q ENST00000374789 NM_019619.3 1207 cGg/cAg 0 -PARD3B UCSF GRCh37 2 206480410 206480410 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 70 168 0 ENST00000406610.2:c.3491C>T p.Pro1164Leu p.P1164L ENST00000406610 NM_205863.3 1164 cCc/cTc 0 -PARP10 UCSF GRCh37 8 145060340 145060340 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 172 45 61 0 ENST00000313028.7:c.64G>A p.Val22Met p.V22M ENST00000313028 NM_032789.3 22 Gtg/Atg 0 -PARP10 UCSF GRCh37 8 145059662 145059662 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 118 28 52 0 ENST00000313028.7:c.591C>T p.Arg197= p.R197= ENST00000313028 NM_032789.3 197 cgC/cgT 0 -PARP8 UCSF GRCh37 5 50090071 50090071 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 83 57 162 0 ENST00000281631.5:c.768G>A p.Trp256Ter p.W256* ENST00000281631 NM_024615.3 256 tgG/tgA 0 -PARP9 UCSF GRCh37 3 122274837 122274837 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 85 123 0 ENST00000360356.2:c.286G>A p.Val96Ile p.V96I ENST00000360356 NM_001146102.1 96 Gtc/Atc 0 -PARS2 UCSF GRCh37 1 55223689 55223689 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 82 142 0 ENST00000371279.3:c.1146G>A p.Lys382= p.K382= ENST00000371279 NM_152268.3 382 aaG/aaA 0 -PAX8 UCSF GRCh37 2 114002187 114002187 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 67 152 0 ENST00000263334.5:c.206G>A p.Gly69Asp p.G69D ENST00000263334 69 gGc/gAc 0 -PAX8 UCSF GRCh37 2 113984731 113984731 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 11 17 0 ENST00000263334.5:c.1110+1G>A p.X370_splice ENST00000263334 0 -PAXIP1 UCSF GRCh37 7 154767540 154767540 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 84 155 0 ENST00000397192.1:c.940G>A p.Ala314Thr p.A314T ENST00000397192 NM_007349.3 314 Gct/Act 0 -PBK UCSF GRCh37 8 27690588 27690588 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 31 85 0 ENST00000301905.4:c.43G>A p.Glu15Lys p.E15K ENST00000301905 NM_001278945.1 15 Gaa/Aaa 0 -PCDH18 UCSF GRCh37 4 138452772 138452772 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 90 126 0 ENST00000344876.4:c.471C>T p.Pro157= p.P157= ENST00000344876 NM_019035.3 157 ccC/ccT 0 -PCDHA3 UCSF GRCh37 5 140182340 140182340 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 75 113 0 ENST00000522353.2:c.1558C>T p.Leu520= p.L520= ENST00000522353 NM_018906.2 520 Ctg/Ttg 0 -PCDHA3 UCSF GRCh37 5 140181988 140181988 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 118 83 191 0 ENST00000522353.2:c.1206G>A p.Lys402= p.K402= ENST00000522353 NM_018906.2 402 aaG/aaA 0 -PCDHA5 UCSF GRCh37 5 140201429 140201429 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 62 132 0 ENST00000529859.1:c.69G>A p.Trp23Ter p.W23* ENST00000529859 NM_018908.2 23 tgG/tgA 0 -PCDHA6 UCSF GRCh37 5 140208723 140208723 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 82 83 204 0 ENST00000529310.1:c.1047G>A p.Glu349= p.E349= ENST00000529310 NM_018909.2 349 gaG/gaA 0 -PCDHA7 UCSF GRCh37 5 140214435 140214435 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 99 35 174 0 ENST00000525929.1:c.467G>A p.Gly156Asp p.G156D ENST00000525929 NM_018910.2 156 gGc/gAc 0 -PCDHA9 UCSF GRCh37 5 140228547 140228547 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 33 88 0 ENST00000532602.1:c.467G>A p.Gly156Asp p.G156D ENST00000532602 NM_031857.1 156 gGc/gAc 0 -PCDHB5 UCSF GRCh37 5 140517039 140517039 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 56 126 0 ENST00000231134.5:c.2023G>A p.Ala675Thr p.A675T ENST00000231134 NM_015669.2 675 Gcg/Acg 0 -PCDHB9 UCSF GRCh37 5 140567134 140567134 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 56 152 0 ENST00000316105.4:n.242C>T *81* ENST00000316105 0 -PCDHB9 UCSF GRCh37 5 140567721 140567721 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 42 84 0 ENST00000316105.4:n.829G>A *277* ENST00000316105 0 -PCDHGB1 UCSF GRCh37 5 140732149 140732149 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 40 83 0 ENST00000523390.1:c.2322G>A p.Gln774= p.Q774= ENST00000523390 NM_018922.2 774 caG/caA 0 -PCDHGB4 UCSF GRCh37 5 140768177 140768177 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 135 111 214 0 ENST00000519479.1:c.726C>T p.Phe242= p.F242= ENST00000519479 NM_003736.2 242 ttC/ttT 0 -PCDHGB7 UCSF GRCh37 5 140797671 140797671 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 98 77 157 1 ENST00000398594.2:c.245G>A p.Gly82Glu p.G82E ENST00000398594 NM_018927.3 82 gGg/gAg 0 -PCDHGC3 UCSF GRCh37 5 140856768 140856768 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 55 92 0 ENST00000308177.3:c.1085C>T p.Pro362Leu p.P362L ENST00000308177 NM_002588.2 362 cCc/cTc 0 -PCDP1 UCSF GRCh37 2 120413987 120413987 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 31 94 0 ENST00000413369.3:c.2464C>T p.Leu822Phe p.L822F ENST00000413369 NM_001271049.1 822 Ctc/Ttc 0 -PCK1 UCSF GRCh37 20 56140507 56140507 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 73 158 0 ENST00000319441.4:c.1516G>A p.Ala506Thr p.A506T ENST00000319441 NM_002591.3 506 Gcc/Acc 0 -PCNT UCSF GRCh37 21 47783713 47783713 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 55 128 0 ENST00000359568.5:c.2473G>A p.Glu825Lys p.E825K ENST00000359568 NM_006031.5 825 Gaa/Aaa 0 -PCNX UCSF GRCh37 14 71485788 71485788 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 114 90 200 0 ENST00000304743.2:c.3059G>A p.Gly1020Glu p.G1020E ENST00000304743 NM_014982.2 1020 gGa/gAa 0 -PCYT1B UCSF GRCh37 X 24625961 24625961 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 21 61 0 ENST00000379144.2:c.235G>A p.Val79Ile p.V79I ENST00000379144 NM_004845.4 79 Gta/Ata 0 -PDC UCSF GRCh37 1 186413413 186413413 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 119 246 0 ENST00000391997.2:c.439G>A p.Gly147Ser p.G147S ENST00000391997 NM_002597.4 147 Ggt/Agt 0 -PDCD6 UCSF GRCh37 5 306740 306740 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 76 126 0 ENST00000264933.4:c.232G>A p.Ala78Thr p.A78T ENST00000264933 NM_001267556.1 78 Gcc/Acc 0 -PDE2A UCSF GRCh37 11 72294554 72294554 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 36 97 0 ENST00000334456.5:c.1656C>T p.Leu552= p.L552= ENST00000334456 NM_002599.4 552 ctC/ctT 0 -PDE4A UCSF GRCh37 19 10531444 10531444 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 10 8 0 ENST00000380702.2:c.254+2903G>A *85* ENST00000380702 0 -PDE4DIP UCSF GRCh37 1 144859782 144859782 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 111 24 156 1 ENST00000369354.3:c.6302G>A p.Gly2101Glu p.G2101E ENST00000369354 2101 gGa/gAa 0 -PDE4DIP UCSF GRCh37 1 145075649 145075649 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 64 10 48 0 ENST00000369345.4:c.214G>A p.Ala72Thr p.A72T ENST00000369345 72 Gcg/Acg 0 -PDE4DIP UCSF GRCh37 1 144864250 144864250 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 235 90 343 0 ENST00000369354.3:c.5845G>A p.Glu1949Lys p.E1949K ENST00000369354 1949 Gag/Aag 0 -PDE4DIP UCSF GRCh37 1 144917570 144917570 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 318 111 387 0 ENST00000369354.3:c.1534G>A p.Ala512Thr p.A512T ENST00000369354 512 Gct/Act 0 -PDE4DIP UCSF GRCh37 1 144857006 144857006 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 33 148 0 ENST00000369354.3:c.6479C>T p.Pro2160Leu p.P2160L ENST00000369354 2160 cCt/cTt 0 -PDE6B UCSF GRCh37 4 619530 619530 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 42 87 0 ENST00000496514.1:c.115G>A p.Gly39Arg p.G39R ENST00000496514 39 Ggg/Agg 0 -PDE6B UCSF GRCh37 4 657987 657987 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 30 51 0 ENST00000496514.1:c.2106G>A p.Glu702= p.E702= ENST00000496514 702 gaG/gaA 0 -PDE9A UCSF GRCh37 21 44171225 44171225 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 113 230 0 ENST00000291539.6:c.654-1G>A p.X218_splice ENST00000291539 NM_002606.2 0 -PDGFRB UCSF GRCh37 5 149516589 149516589 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 19 20 52 0 ENST00000261799.4:c.22C>T p.Pro8Ser p.P8S ENST00000261799 NM_002609.3 8 Cca/Tca 0 -PDIA2 UCSF GRCh37 16 334467 334467 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 8 29 0 ENST00000219406.6:c.280G>A p.Val94Met p.V94M ENST00000219406 NM_006849.2 94 Gtg/Atg 0 -PDIA5 UCSF GRCh37 3 122880194 122880194 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 46 105 0 ENST00000316218.7:c.1371C>T p.Val457= p.V457= ENST00000316218 NM_006810.3 457 gtC/gtT 0 -PDK2 UCSF GRCh37 17 48187335 48187335 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 5 16 0 ENST00000503176.1:c.1098C>T p.Asp366= p.D366= ENST00000503176 NM_002611.4 366 gaC/gaT 0 -PDLIM5 UCSF GRCh37 4 95376501 95376501 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 23 73 0 ENST00000317968.4:c.62G>A p.Gly21Asp p.G21D ENST00000317968 NM_001256428.1 21 gGt/gAt 0 -PDPR UCSF GRCh37 16 70162947 70162947 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 326 114 411 0 ENST00000288050.4:c.529G>A p.Ala177Thr p.A177T ENST00000288050 NM_017990.3 177 Gcc/Acc 0 -PDPR UCSF GRCh37 16 70176293 70176293 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 157 57 220 1 ENST00000288050.4:c.1471+1G>A p.X491_splice ENST00000288050 NM_017990.3 0 -PDS5B UCSF GRCh37 13 33222964 33222964 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 55 150 0 ENST00000315596.10:c.55G>A p.Val19Ile p.V19I ENST00000315596 NM_015032.3 19 Gtc/Atc 0 -PDZD2 UCSF GRCh37 5 32090465 32090465 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 115 67 162 0 ENST00000438447.1:c.6911C>T p.Thr2304Met p.T2304M ENST00000438447 2304 aCg/aTg 0 -PEAK1 UCSF GRCh37 15 77407640 77407640 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 57 131 0 ENST00000312493.4:c.4099G>A p.Glu1367Lys p.E1367K ENST00000312493 NM_024776.3 1367 Gaa/Aaa 0 -PEAK1 UCSF GRCh37 15 77425714 77425714 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 100 174 0 ENST00000312493.4:c.3710G>A p.Ser1237Asn p.S1237N ENST00000312493 NM_024776.3 1237 aGc/aAc 0 -PECR UCSF GRCh37 2 216946456 216946456 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 29 59 0 ENST00000265322.7:c.9C>T p.Ser3= p.S3= ENST00000265322 NM_018441.5 3 tcC/tcT 0 -PEG3 UCSF GRCh37 19 57327209 57327209 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 81 168 0 ENST00000326441.9:c.2601C>T p.Asp867= p.D867= ENST00000326441 NM_006210.2 867 gaC/gaT 0 -PER2 UCSF GRCh37 2 239165610 239165610 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 43 133 0 ENST00000254657.3:c.2018G>A p.Ser673Asn p.S673N ENST00000254657 NM_022817.2 673 aGc/aAc 0 -PER2 UCSF GRCh37 2 239170986 239170986 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 47 103 0 ENST00000254657.3:c.1154-1G>A p.X385_splice ENST00000254657 NM_022817.2 0 -PEX13 UCSF GRCh37 2 61259071 61259071 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 100 75 163 0 ENST00000295030.5:c.610G>A p.Gly204Ser p.G204S ENST00000295030 NM_002618.3 204 Ggc/Agc 0 -PEX5L UCSF GRCh37 3 179597902 179597902 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 45 98 0 ENST00000467460.1:c.320C>T p.Thr107Ile p.T107I ENST00000467460 NM_001256751.1 107 aCt/aTt 0 -PEX6 UCSF GRCh37 6 42933057 42933057 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 42 90 0 ENST00000304611.8:c.2521G>A p.Asp841Asn p.D841N ENST00000304611 NM_000287.3 841 Gat/Aat 0 -PFKP UCSF GRCh37 10 3147617 3147617 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 46 110 0 ENST00000381125.4:c.698G>A p.Gly233Asp p.G233D ENST00000381125 NM_002627.4 233 gGt/gAt 0 -PFN2 UCSF GRCh37 3 149686298 149686298 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 91 181 0 ENST00000239940.7:c.172G>A p.Gly58Ser p.G58S ENST00000239940 58 Ggt/Agt 0 -PGBD1 UCSF GRCh37 6 28253422 28253422 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 37 48 120 0 ENST00000259883.3:c.491G>A p.Gly164Glu p.G164E ENST00000259883 164 gGg/gAg 0 -PGBD2 UCSF GRCh37 1 249212463 249212463 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 87 79 153 0 ENST00000329291.5:c.1680G>A p.Arg560= p.R560= ENST00000329291 NM_170725.2 560 agG/agA 0 -PGCP UCSF GRCh37 8 97892204 97892204 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 312 76 203 0 ENST00000220763.5:c.820G>A p.Glu274Lys p.E274K ENST00000220763 NM_016134.3 274 Gag/Aag 0 -PGS1 UCSF GRCh37 17 76399989 76399989 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 73 102 0 ENST00000262764.6:c.1221G>A p.Gln407= p.Q407= ENST00000262764 NM_024419.3 407 caG/caA 0 -PHACTR2 UCSF GRCh37 6 144070135 144070135 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 30 74 0 ENST00000427704.2:c.195G>A p.Lys65= p.K65= ENST00000427704 NM_014721.2 65 aaG/aaA 0 -PHB1 UCSF GRCh37 17 47482379 47482379 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 8 18 0 ENST00000300408.3:c.794C>T p.Ser265Phe p.S265F ENST00000300408 NM_002634.3 265 tCc/tTc 0 -PHF12 UCSF GRCh37 17 27233388 27233388 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 44 76 0 ENST00000332830.4:c.2828G>A p.Gly943Asp p.G943D ENST00000332830 NM_001033561.1 943 gGc/gAc 0 -PHF23 UCSF GRCh37 17 7139077 7139077 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 110 166 0 ENST00000320316.3:c.1080G>A p.Gly360= p.G360= ENST00000320316 NM_024297.2 360 ggG/ggA 0 -PHKA1 UCSF GRCh37 X 71843054 71843054 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 58 150 0 ENST00000373542.4:c.1865G>A p.Gly622Glu p.G622E ENST00000373542 NM_002637.3 622 gGa/gAa 0 -PHKG1 UCSF GRCh37 7 56151003 56151003 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 39 72 0 ENST00000297373.2:c.515C>T p.Ser172Phe p.S172F ENST00000297373 NM_006213.4 172 tCc/tTc 0 -PHLDB1 UCSF GRCh37 11 118502183 118502183 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 10 29 0 ENST00000361417.2:c.2087G>A p.Ser696Asn p.S696N ENST00000361417 NM_015157.3 696 aGc/aAc 0 -PHLPP1 UCSF GRCh37 18 60527681 60527681 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 183 42 215 0 ENST00000262719.5:c.1913G>A p.Arg638His p.R638H ENST00000262719 638 cGc/cAc 0 -PHTF1 UCSF GRCh37 1 114242401 114242401 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 10 24 0 ENST00000369604.1:c.2067G>A p.Met689Ile p.M689I ENST00000369604 689 atG/atA 0 -PI4KA UCSF GRCh37 22 21096956 21096956 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 55 106 0 ENST00000255882.6:c.3553C>T p.His1185Tyr p.H1185Y ENST00000255882 NM_058004.3 1185 Cat/Tat 0 -PI4KB UCSF GRCh37 1 151278774 151278774 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 49 129 0 ENST00000368873.1:c.1248C>T p.Ala416= p.A416= ENST00000368873 416 gcC/gcT 0 -PIAS4 UCSF GRCh37 19 4028595 4028595 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 20 33 0 ENST00000262971.2:c.669C>T p.Val223= p.V223= ENST00000262971 NM_015897.2 223 gtC/gtT 0 -PIEZO1 UCSF GRCh37 16 88792793 88792793 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 9 17 0 ENST00000301015.9:c.3867C>T p.Ser1289= p.S1289= ENST00000301015 NM_001142864.2 1289 agC/agT 0 -PIEZO2 UCSF GRCh37 18 10672871 10672871 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 50 112 0 ENST00000503781.3:c.7823-1G>A p.X2608_splice ENST00000503781 NM_022068.2 0 -PIGS UCSF GRCh37 17 26898094 26898094 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 43 81 0 ENST00000308360.7:c.147C>T p.Ser49= p.S49= ENST00000308360 NM_033198.3 49 tcC/tcT 0 -PIGT UCSF GRCh37 20 44048995 44048995 + missense_variant Missense_Mutation SNP T T A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 32 44 0 ENST00000279036.6:c.793T>A p.Ser265Thr p.S265T ENST00000279036 NM_015937.5 265 Tcc/Acc 0 -PIK3C3 UCSF GRCh37 18 39613797 39613797 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 57 156 0 ENST00000262039.4:c.1715G>A p.Arg572Lys p.R572K ENST00000262039 NM_002647.2 572 aGa/aAa 0 -PIK3C3 UCSF GRCh37 18 39584421 39584421 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 32 91 0 ENST00000262039.4:c.1086C>T p.Asp362= p.D362= ENST00000262039 NM_002647.2 362 gaC/gaT 0 -PJA2 UCSF GRCh37 5 108714805 108714805 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 80 157 0 ENST00000361189.2:c.383G>A p.Gly128Asp p.G128D ENST00000361189 NM_014819.4 128 gGc/gAc 0 -PKD1 UCSF GRCh37 16 2152522 2152522 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 48 73 0 ENST00000262304.4:c.9061G>A p.Glu3021Lys p.E3021K ENST00000262304 NM_001009944.2 3021 Gag/Aag 0 -PKD1L1 UCSF GRCh37 7 47897327 47897327 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 62 62 106 0 ENST00000289672.2:c.4466T>C p.Val1489Ala p.V1489A ENST00000289672 NM_138295.3 1489 gTg/gCg 0 -PKD1L2 UCSF GRCh37 16 81145904 81145904 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 95 135 1 ENST00000525539.1:c.6847C>T p.Pro2283Ser p.P2283S ENST00000525539 NM_052892.3 2283 Cca/Tca 0 -PKD1L3 UCSF GRCh37 16 71988149 71988149 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 81 178 0 ENST00000534738.1:n.2664G>A *888* ENST00000534738 0 -PKHD1 UCSF GRCh37 6 51735337 51735337 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 50 120 0 ENST00000371117.3:c.7451C>T p.Ala2484Val p.A2484V ENST00000371117 NM_138694.3 2484 gCc/gTc 0 -PKHD1 UCSF GRCh37 6 51920389 51920389 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 34 102 0 ENST00000371117.3:c.1832C>T p.Thr611Ile p.T611I ENST00000371117 NM_138694.3 611 aCa/aTa 0 -PKHD1 UCSF GRCh37 6 51720715 51720715 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 82 225 0 ENST00000371117.3:c.7887C>T p.Asn2629= p.N2629= ENST00000371117 NM_138694.3 2629 aaC/aaT 0 -PKHD1L1 UCSF GRCh37 8 110396319 110396319 + synonymous_variant Silent SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 389 55 213 0 ENST00000378402.5:c.438A>G p.Pro146= p.P146= ENST00000378402 NM_177531.4 146 ccA/ccG 0 -PKN3 UCSF GRCh37 9 131469082 131469082 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 13 27 0 ENST00000291906.4:c.502G>A p.Ala168Thr p.A168T ENST00000291906 NM_013355.3 168 Gcc/Acc 0 -PLAC4 UCSF GRCh37 21 42551485 42551485 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 14 22 0 ENST00000330333.6:c.312+10983G>A *104* ENST00000330333 NM_012105.4 0 -PLCB1 UCSF GRCh37 20 8609010 8609010 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 55 147 0 ENST00000338037.6:c.316G>A p.Val106Met p.V106M ENST00000338037 NM_015192.3 106 Gtg/Atg 0 -PLCB1 UCSF GRCh37 20 8696941 8696941 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 34 95 0 ENST00000338037.6:c.1281C>T p.Tyr427= p.Y427= ENST00000338037 NM_015192.3 427 taC/taT 0 -PLCB2 UCSF GRCh37 15 40594532 40594532 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 36 52 0 ENST00000260402.3:c.391C>T p.Leu131= p.L131= ENST00000260402 NM_004573.2 131 Ctg/Ttg 0 -PLCD4 UCSF GRCh37 2 219487450 219487450 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 132 102 223 0 ENST00000417849.1:c.621G>A p.Glu207= p.E207= ENST00000417849 207 gaG/gaA 0 -PLCE1 UCSF GRCh37 10 96005837 96005837 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 60 109 0 ENST00000260766.3:c.2555C>T p.Ser852Phe p.S852F ENST00000260766 NM_016341.3 852 tCc/tTc 0 -PLCL1 UCSF GRCh37 2 198949169 198949169 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 113 199 0 ENST00000428675.1:c.928C>T p.Leu310Phe p.L310F ENST00000428675 NM_006226.3 310 Ctt/Ttt 0 -PLD3 UCSF GRCh37 19 40883792 40883792 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 33 65 0 ENST00000356508.5:c.1285G>A p.Gly429Arg p.G429R ENST00000356508 NM_001031696.2 429 Gga/Aga 0 -PLEC UCSF GRCh37 8 144991766 144991766 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 257 60 81 0 ENST00000322810.4:c.12634G>A p.Glu4212Lys p.E4212K ENST00000322810 NM_201380.2 4212 Gag/Aag 0 -PLEC UCSF GRCh37 8 144993812 144993812 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 28 40 0 ENST00000322810.4:c.10588G>A p.Ala3530Thr p.A3530T ENST00000322810 NM_201380.2 3530 Gcg/Acg 0 -PLEC UCSF GRCh37 8 144997025 144997025 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 16 18 0 ENST00000322810.4:c.7483G>A p.Ala2495Thr p.A2495T ENST00000322810 NM_201380.2 2495 Gcg/Acg 0 -PLEC UCSF GRCh37 8 145001197 145001197 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 119 24 29 0 ENST00000322810.4:c.4304C>T p.Ser1435Phe p.S1435F ENST00000322810 NM_201380.2 1435 tCc/tTc 0 -PLEC UCSF GRCh37 8 145006824 145006824 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 101 25 52 0 ENST00000322810.4:c.2205C>T p.Asp735= p.D735= ENST00000322810 NM_201380.2 735 gaC/gaT 0 -PLEC UCSF GRCh37 8 145010027 145010027 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 21 46 0 ENST00000322810.4:c.1002C>T p.Ile334= p.I334= ENST00000322810 NM_201380.2 334 atC/atT 0 -PLEKHA5 UCSF GRCh37 12 19511364 19511364 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 20 70 0 ENST00000299275.6:c.2843C>T p.Thr948Ile p.T948I ENST00000299275 NM_019012.5 948 aCt/aTt 0 -PLEKHA6 UCSF GRCh37 1 204226627 204226627 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 9 15 0 ENST00000272203.3:c.1378C>T p.Pro460Ser p.P460S ENST00000272203 NM_014935.4 460 Ccc/Tcc 0 -PLEKHA6 UCSF GRCh37 1 204237376 204237376 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 24 60 0 ENST00000272203.3:c.167C>T p.Pro56Leu p.P56L ENST00000272203 NM_014935.4 56 cCc/cTc 0 -PLEKHG5 UCSF GRCh37 1 6531862 6531862 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 7 30 0 ENST00000400915.3:c.1255C>T p.Leu419= p.L419= ENST00000400915 NM_001042663.1 419 Ctg/Ttg 0 -PLEKHH1 UCSF GRCh37 14 68042659 68042659 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 58 141 0 ENST00000329153.5:c.2289C>T p.Thr763= p.T763= ENST00000329153 NM_020715.2 763 acC/acT 0 -PLEKHH1 UCSF GRCh37 14 68045917 68045917 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 44 60 0 ENST00000329153.5:c.2916G>A p.Glu972= p.E972= ENST00000329153 NM_020715.2 972 gaG/gaA 0 -PLEKHM2 UCSF GRCh37 1 16056318 16056318 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 86 150 0 ENST00000375799.3:c.2102C>T p.Ala701Val p.A701V ENST00000375799 NM_015164.2 701 gCc/gTc 0 -PLEKHO1 UCSF GRCh37 1 150131340 150131340 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 33 74 0 ENST00000369124.4:c.852C>T p.Ala284= p.A284= ENST00000369124 NM_016274.4 284 gcC/gcT 0 -PLIN3 UCSF GRCh37 19 4859655 4859655 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 41 65 1 ENST00000221957.4:c.295G>A p.Gly99Arg p.G99R ENST00000221957 NM_001164194.1 99 Ggg/Agg 0 -PLOD2 UCSF GRCh37 3 145828149 145828149 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 66 165 0 ENST00000360060.3:c.425G>A p.Gly142Glu p.G142E ENST00000360060 NM_000935.2 142 gGa/gAa 0 -PLVAP UCSF GRCh37 19 17476650 17476650 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 44 117 0 ENST00000252590.4:c.624C>T p.His208= p.H208= ENST00000252590 NM_031310.1 208 caC/caT 0 -PLXDC2 UCSF GRCh37 10 20506382 20506382 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 45 133 0 ENST00000377252.4:c.1150G>A p.Glu384Lys p.E384K ENST00000377252 NM_032812.7 384 Gaa/Aaa 0 -PLXNA1 UCSF GRCh37 3 126710278 126710278 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 11 40 0 ENST00000393409.2:c.1246G>A p.Gly416Arg p.G416R ENST00000393409 NM_032242.3 416 Ggg/Agg 0 -PLXNA3 UCSF GRCh37 X 153694768 153694768 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 44 99 0 ENST00000369682.3:c.2849G>A p.Gly950Asp p.G950D ENST00000369682 NM_017514.3 950 gGc/gAc 0 -PLXNB1 UCSF GRCh37 3 48459638 48459638 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 29 54 0 ENST00000296440.6:c.3184G>A p.Ala1062Thr p.A1062T ENST00000296440 NM_001130082.1 1062 Gct/Act 0 -PLXNB3 UCSF GRCh37 X 153039127 153039127 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 21 22 28 0 ENST00000361971.5:c.3238G>A p.Asp1080Asn p.D1080N ENST00000361971 NM_005393.2 1080 Gac/Aac 0 -PLXNB3 UCSF GRCh37 X 153041097 153041097 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 26 54 0 ENST00000361971.5:c.4383C>T p.Cys1461= p.C1461= ENST00000361971 NM_005393.2 1461 tgC/tgT 0 -PLXMT-ND1 UCSF GRCh37 3 129279233 129279233 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 26 23 35 0 ENST00000324093.4:c.5073G>A p.Arg1691= p.R1691= ENST00000324093 NM_015103.2 1691 cgG/cgA 0 -PMF1 UCSF GRCh37 1 156203447 156203447 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 69 199 0 ENST00000368276.4:c.296G>A p.Gly99Glu p.G99E ENST00000368276 NM_001199661.1 99 gGg/gAg 0 -PMFBP1 UCSF GRCh37 16 72166782 72166782 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 84 155 0 ENST00000237353.10:c.1312G>A p.Ala438Thr p.A438T ENST00000237353 NM_031293.2 438 Gcc/Acc 0 -PML UCSF GRCh37 15 74315461 74315461 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 15 15 0 ENST00000268058.3:c.895G>A p.Glu299Lys p.E299K ENST00000268058 NM_033238.2 299 Gag/Aag 0 -PMM1 UCSF GRCh37 22 41973381 41973381 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 1 52 68 0 ENST00000216259.7:c.730C>T p.Gln244Ter p.Q244* ENST00000216259 NM_002676.2 244 Cag/Tag 0 -PMS1 UCSF GRCh37 2 190682849 190682849 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 39 95 0 ENST00000441310.2:c.525C>T p.Leu175= p.L175= ENST00000441310 NM_000534.4 175 ctC/ctT 0 -PNMA2 UCSF GRCh37 8 26366197 26366197 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 91 195 0 ENST00000522362.2:c.75G>A p.Gly25= p.G25= ENST00000522362 NM_007257.5 25 ggG/ggA 0 -PNO1 UCSF GRCh37 2 68385528 68385528 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 90 204 0 ENST00000263657.2:c.224C>T p.Thr75Ile p.T75I ENST00000263657 NM_020143.2 75 aCa/aTa 0 -PNP UCSF GRCh37 14 20943096 20943096 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 59 148 0 ENST00000361505.5:c.450C>T p.Pro150= p.P150= ENST00000361505 NM_000270.3 150 ccC/ccT 0 -PODXL2 UCSF GRCh37 3 127379246 127379246 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 61 161 0 ENST00000342480.6:c.375G>A p.Glu125= p.E125= ENST00000342480 NM_015720.3 125 gaG/gaA 0 -POLA1 UCSF GRCh37 X 24761422 24761422 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 77 170 0 ENST00000379059.3:c.2524G>A p.Gly842Ser p.G842S ENST00000379059 NM_016937.3 842 Ggc/Agc 0 -POLB UCSF GRCh37 8 42213081 42213081 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 60 93 0 ENST00000265421.4:c.418C>T p.Leu140= p.L140= ENST00000265421 NM_002690.2 140 Ctg/Ttg 0 -POLE UCSF GRCh37 12 133244177 133244177 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 124 91 193 0 ENST00000320574.5:c.2231C>T p.Thr744Ile p.T744I ENST00000320574 NM_006231.2 744 aCc/aTc 0 -POLN UCSF GRCh37 4 2083381 2083381 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 33 60 0 ENST00000382865.1:c.2287G>A p.Ala763Thr p.A763T ENST00000382865 NM_181808.2 763 Gca/Aca 0 -POLN UCSF GRCh37 4 2073858 2073858 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 30 112 0 ENST00000382865.1:c.2686C>T p.Pro896Ser p.P896S ENST00000382865 NM_181808.2 896 Cct/Tct 0 -POLN UCSF GRCh37 4 2209757 2209757 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 96 168 0 ENST00000382865.1:c.671C>T p.Thr224Ile p.T224I ENST00000382865 NM_181808.2 224 aCt/aTt 0 -POLQ UCSF GRCh37 3 121151764 121151764 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 79 217 0 ENST00000264233.5:c.7659+1G>A p.X2553_splice ENST00000264233 NM_199420.3 0 -POLR1D UCSF GRCh37 13 28239967 28239967 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 31 150 0 ENST00000399697.3:c.246C>T p.Asn82= p.N82= ENST00000399697 NM_152705.2 82 aaC/aaT 0 -POLR3A UCSF GRCh37 10 79767606 79767606 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 92 182 0 ENST00000372371.3:c.1928G>A p.Ser643Asn p.S643N ENST00000372371 NM_007055.3 643 aGt/aAt 0 -POLR3A UCSF GRCh37 10 79770278 79770278 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 74 104 0 ENST00000372371.3:c.1593C>T p.Thr531= p.T531= ENST00000372371 NM_007055.3 531 acC/acT 0 -POLRMT UCSF GRCh37 19 621684 621684 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 23 29 0 ENST00000588649.2:c.2014C>T p.Arg672Cys p.R672C ENST00000588649 NM_005035.3 672 Cgc/Tgc 0 -POLRMT UCSF GRCh37 19 622877 622877 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 9 31 0 ENST00000588649.2:c.1399C>T p.Leu467Phe p.L467F ENST00000588649 NM_005035.3 467 Ctt/Ttt 0 -POMT1 UCSF GRCh37 9 134385701 134385701 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 49 76 0 ENST00000372228.3:c.820G>A p.Val274Ile p.V274I ENST00000372228 NM_007171.3 274 Gtc/Atc 0 -POMT2 UCSF GRCh37 14 77786960 77786960 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 10 21 0 ENST00000261534.4:c.65G>A p.Gly22Asp p.G22D ENST00000261534 NM_013382.5 22 gGc/gAc 0 -PON3 UCSF GRCh37 7 95025659 95025659 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 41 90 0 ENST00000265627.5:c.4G>A p.Gly2Arg p.G2R ENST00000265627 NM_000940.2 2 Ggg/Agg 0 -POPDC2 UCSF GRCh37 3 119367215 119367215 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 53 75 0 ENST00000264231.3:c.901C>T p.Pro301Ser p.P301S ENST00000264231 NM_022135.2 301 Ccc/Tcc 0 -POT1 UCSF GRCh37 7 124510964 124510964 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 62 140 0 ENST00000357628.3:c.255+1G>A p.X85_splice ENST00000357628 NM_015450.2 0 -POU2F1 UCSF GRCh37 1 167381512 167381512 + synonymous_variant Silent SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 16 22 22 0 ENST00000541643.3:c.1803C>T p.Ser601= p.S601= ENST00000541643 601 agC/agT 0 -POU5F1B UCSF GRCh37 8 128428899 128428899 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 241 76 146 0 ENST00000465342.2:c.788C>T p.Ala263Val p.A263V ENST00000465342 263 gCc/gTc 0 -PPAPDC1B UCSF GRCh37 8 38125910 38125910 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 47 95 0 ENST00000424479.2:c.253G>A p.Asp85Asn p.D85N ENST00000424479 NM_001102559.1 85 Gac/Aac 0 -PPAPDC3 UCSF GRCh37 9 134165620 134165620 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 96 43 82 0 ENST00000372264.3:c.236G>A p.Gly79Asp p.G79D ENST00000372264 NM_032728.3 79 gGc/gAc 0 -PPFIA2 UCSF GRCh37 12 81768505 81768505 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 127 120 228 0 ENST00000549396.1:c.1174G>A p.Ala392Thr p.A392T ENST00000549396 NM_003625.3 392 Gct/Act 0 -PPFIA2 UCSF GRCh37 12 81657155 81657155 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 63 177 0 ENST00000549396.1:c.3570C>T p.Asn1190= p.N1190= ENST00000549396 NM_003625.3 1190 aaC/aaT 0 -PPFIBP2 UCSF GRCh37 11 7674408 7674408 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 1 43 94 0 ENST00000299492.4:c.2590C>T p.Pro864Ser p.P864S ENST00000299492 NM_003621.3 864 Cct/Tct 0 -PPIG UCSF GRCh37 2 170487383 170487383 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 64 147 0 ENST00000260970.3:c.647C>T p.Ser216Phe p.S216F ENST00000260970 NM_004792.2 216 tCc/tTc 0 -PPIP5K2 UCSF GRCh37 5 102491695 102491695 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 33 64 0 ENST00000358359.3:c.1486G>A p.Glu496Lys p.E496K ENST00000358359 NM_001281471.1 496 Gag/Aag 0 -PPM1B UCSF GRCh37 2 44428804 44428804 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 89 168 0 ENST00000282412.4:c.466C>T p.Leu156= p.L156= ENST00000282412 NM_002706.4 156 Ctg/Ttg 0 -PPM1D UCSF GRCh37 17 58740364 58740364 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 59 139 0 ENST00000305921.3:c.1269G>A p.Glu423= p.E423= ENST00000305921 NM_003620.3 423 gaG/gaA 0 -PPM1F UCSF GRCh37 22 22277491 22277491 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 58 96 0 ENST00000263212.5:c.1339G>A p.Glu447Lys p.E447K ENST00000263212 NM_014634.3 447 Gag/Aag 0 -PPM1F UCSF GRCh37 22 22277695 22277695 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 28 62 0 ENST00000263212.5:c.1135C>T p.Leu379= p.L379= ENST00000263212 NM_014634.3 379 Ctg/Ttg 0 -PPP1R12A UCSF GRCh37 12 80222115 80222115 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 92 191 0 ENST00000261207.5:c.777G>A p.Glu259= p.E259= ENST00000261207 NM_001143885.1 259 gaG/gaA 0 -PPP1R9A UCSF GRCh37 7 94913617 94913617 + intron_variant Intron SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 87 159 0 ENST00000340694.4:c.2758-1901C>T *920* ENST00000340694 NM_001166163.1 0 -PPP2R1A UCSF GRCh37 19 52719110 52719110 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 55 137 0 ENST00000322088.6:c.886G>A p.Ala296Thr p.A296T ENST00000322088 NM_014225.5 296 Gcc/Acc 0 -PPP2R2D UCSF GRCh37 10 133747977 133747977 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 112 201 0 ENST00000455566.1:c.23C>T p.Thr8Ile p.T8I ENST00000455566 NM_018461.3 8 aCc/aTc 0 -PPP2R5B UCSF GRCh37 11 64698907 64698907 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 30 68 0 ENST00000164133.2:c.892-1G>A p.X298_splice ENST00000164133 NM_006244.3 0 -PPP4R1 UCSF GRCh37 18 9550361 9550361 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 68 178 0 ENST00000400556.3:c.2327G>A p.Arg776Lys p.R776K ENST00000400556 NM_001042388.2 776 aGa/aAa 0 -PPP5C UCSF GRCh37 19 46891687 46891687 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 19 54 0 ENST00000012443.4:c.1158G>A p.Trp386Ter p.W386* ENST00000012443 NM_006247.3 386 tgG/tgA 0 -PPP6C UCSF GRCh37 9 127923179 127923179 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 47 95 0 ENST00000373547.4:c.178G>A p.Asp60Asn p.D60N ENST00000373547 NM_002721.4 60 Gac/Aac 0 -PPPDE1 UCSF GRCh37 1 244852625 244852625 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 54 141 0 ENST00000302550.11:c.190G>A p.Gly64Arg p.G64R ENST00000302550 NM_016076.3 64 Gga/Aga 0 -PPRC1 UCSF GRCh37 10 103901077 103901078 + frameshift_variant Frame_Shift_Ins INS - - C NOVEL P10_Rec Untested WXS Illumina HiSeq 29 0 ENST00000278070.2:c.2819dup p.Pro941ThrfsTer75 p.P941Tfs*75 ENST00000278070 NM_015062.3 938 ccc/cCcc 0 -PPT1 UCSF GRCh37 1 40557012 40557012 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 28 69 0 ENST00000433473.3:c.422G>A p.Gly141Glu p.G141E ENST00000433473 NM_000310.3 141 gGa/gAa 0 -PPT1 UCSF GRCh37 1 40557775 40557775 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 68 139 0 ENST00000433473.3:c.304G>A p.Asp102Asn p.D102N ENST00000433473 NM_000310.3 102 Gat/Aat 0 -PQLC3 UCSF GRCh37 2 11312087 11312087 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 80 162 0 ENST00000295083.3:c.391G>A p.Ala131Thr p.A131T ENST00000295083 NM_152391.3 131 Gca/Aca 0 -PRAM1 UCSF GRCh37 19 8564207 8564207 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 34 65 0 ENST00000423345.4:c.485C>T p.Ala162Val p.A162V ENST00000423345 162 gCg/gTg 0 -PRB2 UCSF GRCh37 12 11546792 11546792 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 66 201 0 ENST00000389362.4:c.220C>T p.Pro74Ser p.P74S ENST00000389362 NM_006248.3 74 Cct/Tct 0 -PRB3 UCSF GRCh37 12 11421042 11421042 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 60 146 0 ENST00000381842.3:c.141C>T p.Pro47= p.P47= ENST00000381842 NM_006249.4 47 ccC/ccT 0 -PRDM10 UCSF GRCh37 11 129787087 129787087 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 41 113 0 ENST00000358825.5:c.2272G>A p.Val758Met p.V758M ENST00000358825 NM_020228.2 758 Gtg/Atg 0 -PRDM13 UCSF GRCh37 6 100061157 100061157 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 14 25 0 ENST00000369215.4:c.646C>T p.Pro216Ser p.P216S ENST00000369215 NM_021620.3 216 Cca/Tca 0 -PRDM15 UCSF GRCh37 21 43259799 43259799 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 85 195 0 ENST00000269844.3:c.1902G>A p.Arg634= p.R634= ENST00000269844 NM_022115.3 634 agG/agA 0 -PRDM2 UCSF GRCh37 1 14108749 14108749 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P10_Rec Untested WXS Illumina HiSeq 7 0 ENST00000235372.7:c.4467delA p.Val1490PhefsTer74 p.V1490Ffs*74 ENST00000235372 NM_012231.4 1487 Aaa/aa 0 -PRDX4 UCSF GRCh37 X 23697334 23697334 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 76 179 0 ENST00000379341.4:c.529C>T p.Leu177Phe p.L177F ENST00000379341 NM_006406.1 177 Ctt/Ttt 0 -PREP UCSF GRCh37 6 105736761 105736761 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 50 129 0 ENST00000369110.3:c.1326C>T p.Tyr442= p.Y442= ENST00000369110 NM_002726.4 442 taC/taT 0 -PREX1 UCSF GRCh37 20 47364366 47364366 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 21 53 0 ENST00000371941.3:c.271C>T p.Leu91Phe p.L91F ENST00000371941 NM_020820.3 91 Ctc/Ttc 0 -PREX1 UCSF GRCh37 20 47273622 47273622 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 14 30 0 ENST00000371941.3:c.2079C>T p.Cys693= p.C693= ENST00000371941 NM_020820.3 693 tgC/tgT 0 -PREX2 UCSF GRCh37 8 69104660 69104660 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 35 61 0 ENST00000288368.4:c.4504G>A p.Ala1502Thr p.A1502T ENST00000288368 NM_024870.2 1502 Gct/Act 0 -PRICKLE4 UCSF GRCh37 6 41752787 41752787 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 52 127 0 ENST00000359201.5:c.355C>T p.Leu119Phe p.L119F ENST00000359201 119 Ctt/Ttt 0 -PRKAR2A UCSF GRCh37 3 48789107 48789107 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 60 85 0 ENST00000265563.8:c.1126G>A p.Asp376Asn p.D376N ENST00000265563 NM_004157.2 376 Gac/Aac 0 -PRKCZ UCSF GRCh37 1 2105397 2105397 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 47 77 0 ENST00000378567.3:c.1347C>T p.Ser449= p.S449= ENST00000378567 NM_002744.4 449 tcC/tcT 0 -PRKD3 UCSF GRCh37 2 37480324 37480324 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 113 79 197 0 ENST00000234179.2:c.2669C>T p.Pro890Leu p.P890L ENST00000234179 NM_005813.3 890 cCt/cTt 0 -PRLHR UCSF GRCh37 10 120354365 120354365 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 28 32 0 ENST00000239032.2:c.392G>A p.Gly131Asp p.G131D ENST00000239032 NM_004248.2 131 gGc/gAc 0 -PRMT10 UCSF GRCh37 4 148575327 148575327 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 99 179 0 ENST00000322396.6:c.1721C>T p.Thr574Ile p.T574I ENST00000322396 NM_138364.2 574 aCt/aTt 0 -PRNP UCSF GRCh37 20 4680067 4680067 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 35 61 0 ENST00000379440.4:c.201G>A p.Gln67= p.Q67= ENST00000379440 NM_001080121.1 67 caG/caA 0 -PRODH2 UCSF GRCh37 19 36297377 36297377 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 46 109 0 ENST00000301175.3:c.1184G>A p.Gly395Glu p.G395E ENST00000301175 NM_021232.1 395 gGg/gAg 0 -PROL1 UCSF GRCh37 4 71275286 71275286 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 123 125 229 0 ENST00000399575.2:c.241G>A p.Ala81Thr p.A81T ENST00000399575 NM_021225.4 81 Gca/Aca 0 -PROX1 UCSF GRCh37 1 214170076 214170076 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 58 129 0 ENST00000261454.4:c.198G>A p.Lys66= p.K66= ENST00000261454 66 aaG/aaA 0 -PRPF3 UCSF GRCh37 1 150316697 150316697 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 61 129 0 ENST00000324862.6:c.1486G>A p.Val496Ile p.V496I ENST00000324862 NM_004698.2 496 Gta/Ata 0 -PRPF40B UCSF GRCh37 12 50028958 50028958 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 36 89 0 ENST00000380281.1:c.1012G>A p.Glu338Lys p.E338K ENST00000380281 338 Gag/Aag 0 -PRPF8 UCSF GRCh37 17 1554985 1554985 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 85 169 0 ENST00000304992.6:c.6467C>T p.Thr2156Ile p.T2156I ENST00000304992 NM_006445.3 2156 aCc/aTc 0 -PRR15 UCSF GRCh37 7 29606223 29606223 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 21 8 22 0 ENST00000319694.2:c.278G>A p.Arg93His p.R93H ENST00000319694 NM_175887.2 93 cGc/cAc 0 -PRR19 UCSF GRCh37 19 42814728 42814728 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 85 151 0 ENST00000341747.3:c.907G>A p.Val303Ile p.V303I ENST00000341747 NM_199285.2 303 Gtt/Att 0 -PRRC2A UCSF GRCh37 6 31600268 31600268 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 65 103 0 ENST00000376007.4:c.3818G>A p.Gly1273Asp p.G1273D ENST00000376007 NM_080686.2 1273 gGc/gAc 0 -PRRG3 UCSF GRCh37 X 150869246 150869246 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 53 95 0 ENST00000370353.3:c.437C>T p.Ser146Phe p.S146F ENST00000370353 146 tCt/tTt 0 -PRRT2 UCSF GRCh37 16 29825136 29825136 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 46 82 0 ENST00000358758.7:c.761C>T p.Pro254Leu p.P254L ENST00000358758 NM_001256442.1 254 cCt/cTt 0 -PRRT2 UCSF GRCh37 16 29824583 29824583 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 44 97 0 ENST00000358758.7:c.208G>A p.Glu70Lys p.E70K ENST00000358758 NM_001256442.1 70 Gaa/Aaa 0 -PRSS36 UCSF GRCh37 16 31150554 31150554 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 47 65 0 ENST00000268281.4:c.2473G>A p.Gly825Ser p.G825S ENST00000268281 NM_173502.4 825 Ggc/Agc 0 -PRSS36 UCSF GRCh37 16 31159864 31159864 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 16 16 26 0 ENST00000268281.4:c.405G>A p.Glu135= p.E135= ENST00000268281 NM_173502.4 135 gaG/gaA 0 -PRUNE2 UCSF GRCh37 9 79324065 79324065 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 241 137 213 0 ENST00000376718.3:c.3125C>T p.Ser1042Phe p.S1042F ENST00000376718 NM_015225.2 1042 tCt/tTt 0 -PSAT1 UCSF GRCh37 9 80919695 80919695 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 164 56 170 0 ENST00000376588.3:c.236G>A p.Gly79Glu p.G79E ENST00000376588 NM_058179.3 79 gGg/gAg 0 -PSMA3 UCSF GRCh37 14 58718883 58718883 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 63 163 0 ENST00000216455.4:c.151G>A p.Glu51Lys p.E51K ENST00000216455 NM_152132.2 51 Gaa/Aaa 0 -PSMB11 UCSF GRCh37 14 23511517 23511517 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 53 104 1 ENST00000408907.2:c.83C>T p.Ala28Val p.A28V ENST00000408907 NM_001099780.1 28 gCt/gTt 0 -PSMB5 UCSF GRCh37 14 23503905 23503905 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 24 52 0 ENST00000361611.6:c.186C>T p.Thr62= p.T62= ENST00000361611 NM_002797.3 62 acC/acT 0 -PSMB7 UCSF GRCh37 9 127167651 127167651 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 256 109 182 0 ENST00000259457.3:c.456C>T p.His152= p.H152= ENST00000259457 NM_002799.3 152 caC/caT 0 -PSMF1 UCSF GRCh37 20 1145035 1145035 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 99 185 1 ENST00000333082.3:c.679G>A p.Gly227Ser p.G227S ENST00000333082 NM_178578.2 227 Ggc/Agc 0 -PSTPIP1 UCSF GRCh37 15 77321869 77321869 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 9 29 0 ENST00000558012.1:c.517-1G>A p.X173_splice ENST00000558012 NM_003978.3 0 -PTBP2 UCSF GRCh37 1 97250756 97250756 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 68 127 0 ENST00000426398.2:c.850C>T p.Pro284Ser p.P284S ENST00000426398 NM_021190.2 284 Cct/Tct 0 -PTCHD3 UCSF GRCh37 10 27702675 27702675 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 155 63 148 0 ENST00000438700.3:c.505G>A p.Glu169Lys p.E169K ENST00000438700 NM_001034842.3 169 Gag/Aag 0 -PTGER4 UCSF GRCh37 5 40681248 40681248 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 73 113 0 ENST00000302472.3:c.153G>A p.Glu51= p.E51= ENST00000302472 NM_000958.2 51 gaG/gaA 0 -PTGFRN UCSF GRCh37 1 117504007 117504007 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 60 110 0 ENST00000393203.2:c.1356C>T p.Asn452= p.N452= ENST00000393203 NM_020440.2 452 aaC/aaT 0 -PTGR2 UCSF GRCh37 14 74343866 74343866 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 88 159 0 ENST00000267568.4:c.514G>A p.Gly172Arg p.G172R ENST00000267568 NM_152444.2 172 Ggg/Agg 0 -PTGS1 UCSF GRCh37 9 125148858 125148858 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 195 79 200 0 ENST00000362012.2:c.1143C>T p.Asn381= p.N381= ENST00000362012 NM_000962.3 381 aaC/aaT 0 -PTGS1 UCSF GRCh37 9 125145892 125145892 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 37 71 0 ENST00000362012.2:c.867G>A p.Glu289= p.E289= ENST00000362012 NM_000962.3 289 gaG/gaA 0 -PTGS1 UCSF GRCh37 9 125145946 125145946 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 43 85 0 ENST00000362012.2:c.921G>A p.Glu307= p.E307= ENST00000362012 NM_000962.3 307 gaG/gaA 0 -PTH2R UCSF GRCh37 2 209302275 209302275 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 35 90 0 ENST00000272847.2:c.192C>T p.Phe64= p.F64= ENST00000272847 NM_005048.3 64 ttC/ttT 0 -PTK2 UCSF GRCh37 8 141829029 141829043 + inframe_deletion In_Frame_Del DEL GGATCTCAAAGAATT GGATCTCAAAGAATT - NOVEL P10_Rec Untested WXS Illumina HiSeq 199 0 ENST00000521059.1:c.725_739del p.Lys242_Leu247delinsMet p.K242_L247delinsM ENST00000521059 NM_005607.4 242 aAATTCTTTGAGATCCtg/atg 0 -PTK2B UCSF GRCh37 8 27315931 27315931 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 25 34 0 ENST00000346049.5:c.2935G>A p.Ala979Thr p.A979T ENST00000346049 NM_173176.2 979 Gct/Act 0 -PTK2B UCSF GRCh37 8 27296632 27296632 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0045 P10_Rec Untested WXS Illumina HiSeq 51 42 92 1 ENST00000346049.5:c.1728C>T p.Asp576= p.D576= ENST00000346049 NM_173176.2 576 gaC/gaT 0 -PTK6 UCSF GRCh37 20 62161534 62161534 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 44 71 0 ENST00000542869.1:c.762C>T p.Ala254= p.A254= ENST00000542869 NM_001256358.1 254 gcC/gcT 0 -PTPN13 UCSF GRCh37 4 87593580 87593580 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 47 134 0 ENST00000411767.2:c.178C>T p.Pro60Ser p.P60S ENST00000411767 60 Cca/Tca 0 -PTPN4 UCSF GRCh37 2 120702686 120702686 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 46 113 0 ENST00000263708.2:c.1385C>T p.Pro462Leu p.P462L ENST00000263708 NM_002830.3 462 cCt/cTt 0 -PTPN5 UCSF GRCh37 11 18755141 18755141 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 7 104 0 ENST00000358540.2:c.1042G>A p.Asp348Asn p.D348N ENST00000358540 NM_006906.1 348 Gac/Aac 0 -PTPN5 UCSF GRCh37 11 18764003 18764003 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 41 49 0 ENST00000358540.2:c.531C>T p.Pro177= p.P177= ENST00000358540 NM_006906.1 177 ccC/ccT 0 -PTPRA UCSF GRCh37 20 3008476 3008476 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 48 111 0 ENST00000380393.3:c.1909G>A p.Glu637Lys p.E637K ENST00000380393 NM_002836.3 637 Gag/Aag 0 -PTPRB UCSF GRCh37 12 70974815 70974815 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 61 167 0 ENST00000261266.5:c.1924+1G>A p.X642_splice ENST00000261266 NM_002837.4 0 -PTPRC UCSF GRCh37 1 198725253 198725253 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 64 173 0 ENST00000442510.2:c.3864G>A p.Glu1288= p.E1288= ENST00000442510 1288 gaG/gaA 0 -PTPRCAP UCSF GRCh37 11 67203356 67203356 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 23 44 0 ENST00000326294.3:c.469G>A p.Gly157Ser p.G157S ENST00000326294 NM_005608.2 157 Ggc/Agc 0 -PTPRH UCSF GRCh37 19 55718105 55718105 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 68 186 0 ENST00000376350.3:c.304G>A p.Glu102Lys p.E102K ENST00000376350 NM_002842.3 102 Gag/Aag 0 -PTPRH UCSF GRCh37 19 55698945 55698945 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 64 135 0 ENST00000376350.3:c.2502G>A p.Gln834= p.Q834= ENST00000376350 NM_002842.3 834 caG/caA 0 -PTPRH UCSF GRCh37 19 55697841 55697841 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 47 142 0 ENST00000376350.3:c.2634C>T p.Ser878= p.S878= ENST00000376350 NM_002842.3 878 agC/agT 0 -PTPRK UCSF GRCh37 6 128399998 128399998 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 52 137 0 ENST00000368215.3:c.1843G>A p.Val615Ile p.V615I ENST00000368215 615 Gta/Ata 0 -PTPRK UCSF GRCh37 6 128306890 128306890 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 55 135 0 ENST00000368215.3:c.3224C>T p.Ala1075Val p.A1075V ENST00000368215 1075 gCt/gTt 0 -PTPRM UCSF GRCh37 18 7888373 7888373 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 66 146 0 ENST00000332175.8:c.466C>T p.Gln156Ter p.Q156* ENST00000332175 NM_002845.3 156 Cag/Tag 0 -PTPRM UCSF GRCh37 18 8394570 8394570 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 47 100 0 ENST00000332175.8:c.4266G>A p.Lys1422= p.K1422= ENST00000332175 NM_002845.3 1422 aaG/aaA 0 -PTPRU UCSF GRCh37 1 29605526 29605526 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 11 24 0 ENST00000345512.3:c.1456C>T p.Pro486Ser p.P486S ENST00000345512 NM_005704.4 486 Ccc/Tcc 0 -PTPRU UCSF GRCh37 1 29609209 29609209 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 21 40 0 ENST00000345512.3:c.1890G>A p.Glu630= p.E630= ENST00000345512 NM_005704.4 630 gaG/gaA 0 -PTPRZ1 UCSF GRCh37 7 121680878 121680878 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 39 78 0 ENST00000393386.2:c.5646G>A p.Gln1882= p.Q1882= ENST00000393386 NM_001206838.1 1882 caG/caA 0 -PUF60 UCSF GRCh37 8 144900217 144900217 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 167 32 95 0 ENST00000526683.1:c.632C>T p.Ala211Val p.A211V ENST00000526683 NM_001271098.1 211 gCc/gTc 0 -PURA UCSF GRCh37 5 139494246 139494246 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 23 42 0 ENST00000331327.3:c.480G>A p.Lys160= p.K160= ENST00000331327 NM_005859.4 160 aaG/aaA 0 -PUS7L UCSF GRCh37 12 44149022 44149022 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 61 114 0 ENST00000344862.5:c.27C>T p.Ile9= p.I9= ENST00000344862 NM_031292.4 9 atC/atT 0 -PVRL1 UCSF GRCh37 11 119549413 119549413 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 20 32 0 ENST00000264025.3:c.142G>A p.Val48Ile p.V48I ENST00000264025 NM_002855.4 48 Gtt/Att 0 -PVRL2 UCSF GRCh37 19 45389422 45389422 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 44 83 0 ENST00000252483.5:c.1293G>A p.Glu431= p.E431= ENST00000252483 NM_001042724.1 431 gaG/gaA 0 -PWP2 UCSF GRCh37 21 45534566 45534566 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 79 47 95 0 ENST00000291576.7:c.387G>A p.Arg129= p.R129= ENST00000291576 NM_005049.2 129 cgG/cgA 0 -PWWP2A UCSF GRCh37 5 159520808 159520808 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 124 111 237 0 ENST00000307063.7:c.849C>T p.Asn283= p.N283= ENST00000307063 NM_001130864.1 283 aaC/aaT 0 -QRFPR UCSF GRCh37 4 122254126 122254126 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 45 144 0 ENST00000394427.2:c.647C>T p.Thr216Ile p.T216I ENST00000394427 NM_198179.2 216 aCc/aTc 0 -R3HCC1 UCSF GRCh37 8 23146530 23146530 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 52 145 0 ENST00000411463.1:c.232G>A p.Val78Ile p.V78I ENST00000411463 78 Gtt/Att 0 -R3HDM1 UCSF GRCh37 2 136403068 136403068 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 78 187 0 ENST00000264160.4:c.1594C>T p.Gln532Ter p.Q532* ENST00000264160 NM_015361.2 532 Caa/Taa 0 -R3HDM2 UCSF GRCh37 12 57696963 57696963 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 52 116 0 ENST00000347140.3:c.203C>T p.Ala68Val p.A68V ENST00000347140 68 gCc/gTc 0 -RAB2B UCSF GRCh37 14 21936563 21936563 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 29 80 0 ENST00000397762.1:c.315G>A p.Arg105= p.R105= ENST00000397762 NM_032846.3 105 cgG/cgA 0 -RAB40B UCSF GRCh37 17 80616416 80616416 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 61 123 0 ENST00000571995.1:c.516G>A p.Arg172= p.R172= ENST00000571995 NM_006822.2 172 agG/agA 0 -RABGGTB UCSF GRCh37 1 76253239 76253239 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 51 151 0 ENST00000319942.3:c.61G>A p.Glu21Lys p.E21K ENST00000319942 NM_004582.3 21 Gag/Aag 0 -RABL2B UCSF GRCh37 22 51208342 51208342 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 1 32 104 0 ENST00000395598.3:c.400A>G p.Lys134Glu p.K134E ENST00000395598 NM_001130922.1 134 Aaa/Gaa 0 -RAC3 UCSF GRCh37 17 79991357 79991357 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 18 41 0 ENST00000306897.4:c.330C>T p.Ile110= p.I110= ENST00000306897 NM_005052.2 110 atC/atT 0 -RACGAP1 UCSF GRCh37 12 50393516 50393516 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 50 128 0 ENST00000312377.5:c.631G>A p.Gly211Arg p.G211R ENST00000312377 211 Ggg/Agg 0 -RAD1 UCSF GRCh37 5 34911848 34911848 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 97 189 0 ENST00000341754.4:c.377G>A p.Gly126Glu p.G126E ENST00000341754 126 gGa/gAa 0 -RAD18 UCSF GRCh37 3 9000665 9000665 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 67 139 0 ENST00000264926.2:c.72G>A p.Arg24= p.R24= ENST00000264926 NM_020165.3 24 cgG/cgA 0 -RAD21 UCSF GRCh37 8 117868523 117868532 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region DEL ACCCACTGTA ACCCACTGTA CCCCCCTGT NOVEL P10_Rec Untested WXS Illumina HiSeq 6 0 ENST00000297338.2:c.815-5_819delinsACAGGGGGG p.X272_splice ENST00000297338 NM_006265.2 0 -RAD51 UCSF GRCh37 15 41023350 41023350 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 65 143 0 ENST00000267868.3:c.994G>A p.Asp332Asn p.D332N ENST00000267868 NM_002875.4 332 Gat/Aat 0 -RAD51C UCSF GRCh37 17 56772316 56772316 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 99 210 0 ENST00000337432.4:c.170C>T p.Ala57Val p.A57V ENST00000337432 NM_058216.2 57 gCc/gTc 0 -RAD52 UCSF GRCh37 12 1040430 1040430 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 53 119 0 ENST00000358495.3:c.142G>A p.Gly48Ser p.G48S ENST00000358495 NM_134424.2 48 Ggc/Agc 0 -RAD54B UCSF GRCh37 8 95412584 95412584 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 126 43 110 0 ENST00000336148.5:c.1052G>A p.Gly351Asp p.G351D ENST00000336148 NM_012415.3 351 gGc/gAc 0 -RAD54B UCSF GRCh37 8 95479653 95479653 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 296 92 177 0 ENST00000336148.5:c.115C>T p.Pro39Ser p.P39S ENST00000336148 NM_012415.3 39 Cca/Tca 0 -RALGAPA2 UCSF GRCh37 20 20585937 20585937 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 140 125 227 0 ENST00000202677.7:c.1920G>A p.Trp640Ter p.W640* ENST00000202677 NM_020343.3 640 tgG/tgA 0 -RALGAPA2 UCSF GRCh37 20 20505167 20505167 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 67 152 0 ENST00000202677.7:c.3783C>T p.Leu1261= p.L1261= ENST00000202677 NM_020343.3 1261 ctC/ctT 0 -RALGPS1 UCSF GRCh37 9 129961336 129961336 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 142 77 135 0 ENST00000259351.5:c.1238G>A p.Gly413Glu p.G413E ENST00000259351 NM_014636.2 413 gGg/gAg 0 -RANBP17 UCSF GRCh37 5 170343577 170343577 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 81 166 0 ENST00000523189.1:c.943G>A p.Glu315Lys p.E315K ENST00000523189 NM_022897.3 315 Gaa/Aaa 0 -RANBP17 UCSF GRCh37 5 170669776 170669776 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 131 101 214 0 ENST00000523189.1:c.2728G>A p.Val910Ile p.V910I ENST00000523189 NM_022897.3 910 Gta/Ata 0 -RANBP2 UCSF GRCh37 2 109384589 109384589 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 201 167 293 0 ENST00000283195.6:c.7594C>T p.Pro2532Ser p.P2532S ENST00000283195 NM_006267.4 2532 Cca/Tca 0 -RANBP6 UCSF GRCh37 9 6014933 6014933 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 98 202 0 ENST00000259569.5:c.675G>A p.Leu225= p.L225= ENST00000259569 NM_012416.3 225 ttG/ttA 0 -RANBP9 UCSF GRCh37 6 13711180 13711180 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 3 16 0 ENST00000011619.3:c.558G>A p.Arg186= p.R186= ENST00000011619 NM_005493.2 186 cgG/cgA 0 -RAP1A UCSF GRCh37 1 112240111 112240111 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 61 144 0 ENST00000356415.1:c.175G>A p.Ala59Thr p.A59T ENST00000356415 59 Gca/Aca 0 -RAP1GAP UCSF GRCh37 1 21938289 21938289 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 55 138 0 ENST00000374765.4:c.633C>T p.Phe211= p.F211= ENST00000374765 NM_002885.2 211 ttC/ttT 0 -RAPGEF6 UCSF GRCh37 5 130808360 130808360 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 41 121 0 ENST00000509018.1:c.2159C>T p.Pro720Leu p.P720L ENST00000509018 NM_016340.5 720 cCc/cTc 0 -RAPGEF6 UCSF GRCh37 5 130831301 130831301 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 44 115 0 ENST00000509018.1:c.1472G>A p.Gly491Asp p.G491D ENST00000509018 NM_016340.5 491 gGt/gAt 0 -RAPH1 UCSF GRCh37 2 204309628 204309628 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 61 171 2 ENST00000319170.5:c.1739C>T p.Ala580Val p.A580V ENST00000319170 NM_213589.1 580 gCc/gTc 0 -RASA3 UCSF GRCh37 13 114786977 114786977 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 22 67 0 ENST00000334062.7:c.688C>T p.Leu230Phe p.L230F ENST00000334062 NM_007368.2 230 Ctc/Ttc 0 -RASA3 UCSF GRCh37 13 114751087 114751087 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 50 130 0 ENST00000334062.7:c.2428C>T p.Gln810Ter p.Q810* ENST00000334062 NM_007368.2 810 Cag/Tag 0 -RASGEF1C UCSF GRCh37 5 179554648 179554648 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 15 38 0 ENST00000361132.4:c.675C>T p.Val225= p.V225= ENST00000361132 NM_175062.3 225 gtC/gtT 0 -RASGRF2 UCSF GRCh37 5 80369113 80369113 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 66 200 0 ENST00000265080.4:c.729G>A p.Lys243= p.K243= ENST00000265080 NM_006909.2 243 aaG/aaA 0 -RASGRP4 UCSF GRCh37 19 38905542 38905542 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 21 33 0 ENST00000587738.1:c.1176C>T p.Leu392= p.L392= ENST00000587738 392 ctC/ctT 0 -RASSF2 UCSF GRCh37 20 4766911 4766911 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 89 201 0 ENST00000379376.2:c.877G>A p.Glu293Lys p.E293K ENST00000379376 NM_170774.1 293 Gaa/Aaa 0 -RBCK1 UCSF GRCh37 20 409726 409726 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 16 37 0 ENST00000356286.5:c.1440C>T p.Arg480= p.R480= ENST00000356286 NM_031229.2 480 cgC/cgT 0 -RBFA UCSF GRCh37 18 77794524 77794524 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 14 9 0 ENST00000306735.5:c.29G>A p.Arg10His p.R10H ENST00000306735 NM_024805.2 10 cGc/cAc 0 -RBKS UCSF GRCh37 2 28050538 28050538 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 46 89 0 ENST00000302188.3:c.691G>A p.Val231Met p.V231M ENST00000302188 NM_022128.1 231 Gtg/Atg 0 -RBL1 UCSF GRCh37 20 35632224 35632224 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 63 127 0 ENST00000373664.3:c.2917C>T p.Pro973Ser p.P973S ENST00000373664 NM_002895.3 973 Cca/Tca 0 -RBL1 UCSF GRCh37 20 35717525 35717525 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 105 74 154 0 ENST00000373664.3:c.157G>A p.Gly53Arg p.G53R ENST00000373664 NM_002895.3 53 Gga/Aga 0 -RBM10 UCSF GRCh37 X 47041020 47041020 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 22 48 0 ENST00000377604.3:c.1550G>A p.Ser517Asn p.S517N ENST00000377604 NM_001204468.1 517 aGc/aAc 0 -RBM12B UCSF GRCh37 8 94746508 94746508 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 225 87 157 0 ENST00000399300.2:c.2131C>T p.Pro711Ser p.P711S ENST00000399300 NM_203390.2 711 Cct/Tct 0 -RBM14 UCSF GRCh37 11 66391790 66391790 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 70 116 0 ENST00000310137.4:c.443C>T p.Thr148Ile p.T148I ENST00000310137 NM_006328.3 148 aCc/aTc 0 -RBM20 UCSF GRCh37 10 112581121 112581121 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 53 127 0 ENST00000369519.3:c.2744G>A p.Gly915Glu p.G915E ENST00000369519 NM_001134363.1 915 gGg/gAg 0 -RBM25 UCSF GRCh37 14 73544137 73544137 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 54 110 0 ENST00000261973.7:c.217G>A p.Gly73Ser p.G73S ENST00000261973 NM_021239.2 73 Ggc/Agc 0 -RBM33 UCSF GRCh37 7 155530819 155530819 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 127 194 0 ENST00000401878.3:c.1459C>T p.Pro487Ser p.P487S ENST00000401878 NM_053043.2 487 Ccg/Tcg 0 -RBM45 UCSF GRCh37 2 178988377 178988377 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 62 143 0 ENST00000286070.5:c.982G>A p.Asp328Asn p.D328N ENST00000286070 NM_152945.2 328 Gat/Aat 0 -RBMXL3 UCSF GRCh37 X 114425911 114425911 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 33 33 88 0 ENST00000424776.3:c.1907G>A p.Arg636His p.R636H ENST00000424776 NM_001145346.1 636 cGc/cAc 0 -RC3H2 UCSF GRCh37 9 125616365 125616365 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 236 98 179 0 ENST00000357244.2:c.2983G>A p.Ala995Thr p.A995T ENST00000357244 NM_001100588.1 995 Gcc/Acc 0 -RCAN3 UCSF GRCh37 1 24859647 24859647 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 32 103 0 ENST00000374395.4:c.444C>T p.Ser148= p.S148= ENST00000374395 NM_001251984.1 148 tcC/tcT 0 -RECQL4 UCSF GRCh37 8 145740731 145740731 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 166 36 67 0 ENST00000428558.2:c.1369G>A p.Gly457Arg p.G457R ENST00000428558 NM_004260.3 457 Ggg/Agg 0 -RECQL4 UCSF GRCh37 8 145741398 145741398 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 250 44 96 0 ENST00000428558.2:c.1105C>T p.Leu369Phe p.L369F ENST00000428558 NM_004260.3 369 Ctc/Ttc 0 -RECQL5 UCSF GRCh37 17 73625500 73625500 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 35 69 0 ENST00000317905.5:c.2003C>T p.Thr668Met p.T668M ENST00000317905 NM_004259.6 668 aCg/aTg 0 -REEP6 UCSF GRCh37 19 1496425 1496425 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 23 55 0 ENST00000233596.3:c.490G>A p.Asp164Asn p.D164N ENST00000233596 NM_138393.1 164 Gac/Aac 0 -RELN UCSF GRCh37 7 103363610 103363610 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 32 103 0 ENST00000428762.1:c.782C>T p.Ala261Val p.A261V ENST00000428762 NM_005045.3 261 gCt/gTt 0 -RENBP UCSF GRCh37 X 153209422 153209422 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 21 27 0 ENST00000393700.3:c.214G>A p.Val72Ile p.V72I ENST00000393700 NM_002910.5 72 Gta/Ata 0 -REST UCSF GRCh37 4 57798062 57798062 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 67 135 0 ENST00000309042.7:c.3038G>A p.Ser1013Asn p.S1013N ENST00000309042 NM_005612.4 1013 aGc/aAc 0 -RET UCSF GRCh37 10 43597907 43597907 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 41 106 0 ENST00000355710.3:c.455C>T p.Thr152Ile p.T152I ENST00000355710 NM_020975.4 152 aCc/aTc 0 -REXO4 UCSF GRCh37 9 136282832 136282832 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 194 106 180 0 ENST00000371942.3:c.133G>A p.Val45Ile p.V45I ENST00000371942 NM_001279350.1 45 Gta/Ata 0 -RFC5 UCSF GRCh37 12 118464746 118464746 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 84 171 0 ENST00000454402.2:c.716C>T p.Thr239Ile p.T239I ENST00000454402 NM_007370.5 239 aCc/aTc 0 -RFNG UCSF GRCh37 17 80007572 80007572 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 11 14 0 ENST00000310496.4:c.809C>T p.Pro270Leu p.P270L ENST00000310496 NM_002917.1 270 cCc/cTc 0 -RFTN1 UCSF GRCh37 3 16411748 16411748 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 102 258 0 ENST00000334133.4:c.865C>T p.His289Tyr p.H289Y ENST00000334133 NM_015150.1 289 Cat/Tat 0 -RFWD2 UCSF GRCh37 1 176012861 176012861 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 67 185 0 ENST00000367669.3:c.1515G>A p.Arg505= p.R505= ENST00000367669 NM_022457.5 505 agG/agA 0 -RFX7 UCSF GRCh37 15 56471467 56471467 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 18 8 45 0 ENST00000559447.2:c.-97+1G>A p.X33_splice ENST00000559447 0 -RFX7 UCSF GRCh37 15 56435014 56435014 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 120 180 0 ENST00000559447.2:c.72G>A p.Glu24= p.E24= ENST00000559447 24 gaG/gaA 0 -RGL3 UCSF GRCh37 19 11516053 11516053 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 22 28 0 ENST00000380456.3:c.1046C>T p.Ala349Val p.A349V ENST00000380456 NM_001035223.2 349 gCc/gTc 0 -RGS4 UCSF GRCh37 1 163044336 163044336 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 86 163 1 ENST00000367909.6:c.604C>T p.Pro202Ser p.P202S ENST00000367909 NM_005613.5 202 Cct/Tct 0 -RGS8 UCSF GRCh37 1 182617280 182617280 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 136 113 203 0 ENST00000367556.1:c.352C>T p.Pro118Ser p.P118S ENST00000367556 118 Cca/Tca 0 -RHPN1 UCSF GRCh37 8 144458815 144458815 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 11 20 0 ENST00000289013.6:c.297G>A p.Arg99= p.R99= ENST00000289013 NM_052924.2 99 cgG/cgA 0 -RHPN1 UCSF GRCh37 8 144460928 144460928 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 30 29 0 ENST00000289013.6:c.522G>A p.Gln174= p.Q174= ENST00000289013 NM_052924.2 174 caG/caA 0 -RIMBP3 UCSF GRCh37 22 20457152 20457152 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 150 70 207 0 ENST00000426804.1:c.4150G>A p.Glu1384Lys p.E1384K ENST00000426804 NM_015672.1 1384 Gag/Aag 0 -RING1 UCSF GRCh37 6 33177691 33177691 + splice_acceptor_variant Splice_Site SNP G G T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 35 101 0 ENST00000374656.4:c.240-1G>T p.X80_splice ENST00000374656 NM_002931.3 0 -RIOK3 UCSF GRCh37 18 21059389 21059389 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 32 98 0 ENST00000339486.3:c.1452+1G>A p.X484_splice ENST00000339486 NM_003831.3 0 -RIPK3 UCSF GRCh37 14 24805454 24805454 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 56 141 0 ENST00000216274.5:c.1484G>A p.Gly495Asp p.G495D ENST00000216274 NM_006871.3 495 gGt/gAt 0 -RIPK4 UCSF GRCh37 21 43169343 43169343 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 41 128 0 ENST00000352483.2:c.644G>A p.Gly215Asp p.G215D ENST00000352483 215 gGc/gAc 0 -RIPPLY1 UCSF GRCh37 X 106146371 106146371 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 49 102 0 ENST00000276173.4:c.147G>A p.Gly49= p.G49= ENST00000276173 NM_138382.2 49 ggG/ggA 0 -RIPPLY1 UCSF GRCh37 X 106146449 106146449 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 39 103 0 ENST00000276173.4:c.69C>T p.Asp23= p.D23= ENST00000276173 NM_138382.2 23 gaC/gaT 0 -RIT1 UCSF GRCh37 1 155874248 155874248 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 57 113 0 ENST00000368323.3:c.283G>A p.Gly95Arg p.G95R ENST00000368323 NM_006912.5 95 Ggg/Agg 0 -RLF UCSF GRCh37 1 40704129 40704129 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 74 166 0 ENST00000372771.4:c.3755G>A p.Ser1252Asn p.S1252N ENST00000372771 NM_012421.3 1252 aGt/aAt 0 -RMI1 UCSF GRCh37 9 86617645 86617645 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 179 90 170 0 ENST00000325875.3:c.1744C>T p.Gln582Ter p.Q582* ENST00000325875 NM_024945.2 582 Caa/Taa 0 -RNASE1 UCSF GRCh37 14 21269809 21269809 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 72 132 0 ENST00000340900.3:c.419G>A p.Gly140Glu p.G140E ENST00000340900 NM_198234.2 140 gGg/gAg 0 -RNASEL UCSF GRCh37 1 182551378 182551378 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 69 165 0 ENST00000367559.3:c.1582G>A p.Val528Ile p.V528I ENST00000367559 NM_021133.3 528 Gtc/Atc 0 -RNF11 UCSF GRCh37 1 51702498 51702498 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 20 53 0 ENST00000242719.3:c.70G>A p.Ala24Thr p.A24T ENST00000242719 NM_014372.4 24 Gct/Act 0 -RNF19A UCSF GRCh37 8 101281054 101281054 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 185 60 142 0 ENST00000341084.2:c.1150C>T p.Pro384Ser p.P384S ENST00000341084 NM_183419.3 384 Cct/Tct 0 -RNF208 UCSF GRCh37 9 140115417 140115417 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 4 17 0 ENST00000391553.1:c.248C>T p.Pro83Leu p.P83L ENST00000391553 NM_031297.4 83 cCt/cTt 0 -RNF213 UCSF GRCh37 17 78318527 78318527 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 95 197 0 ENST00000582970.1:c.6392C>T p.Thr2131Ile p.T2131I ENST00000582970 NM_001256071.1 2131 aCc/aTc 0 -RNF217 UCSF GRCh37 6 125398004 125398004 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 72 162 0 ENST00000521654.2:c.1483G>A p.Ala495Thr p.A495T ENST00000521654 NM_001286398.1 495 Gct/Act 0 -RNF31 UCSF GRCh37 14 24618685 24618685 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 54 130 0 ENST00000324103.6:c.702G>A p.Gln234= p.Q234= ENST00000324103 NM_017999.4 234 caG/caA 0 -RNF38 UCSF GRCh37 9 36390546 36390546 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 295 97 186 0 ENST00000259605.6:c.80G>A p.Arg27Lys p.R27K ENST00000259605 NM_022781.4 27 aGa/aAa 0 -RNF40 UCSF GRCh37 16 30780214 30780214 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 53 116 0 ENST00000324685.6:c.2153G>A p.Ser718Asn p.S718N ENST00000324685 NM_014771.3 718 aGc/aAc 0 -RNF43 UCSF GRCh37 17 56436066 56436066 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 5 10 0 ENST00000407977.2:c.1071C>T p.Tyr357= p.Y357= ENST00000407977 357 taC/taT 0 -ROBO3 UCSF GRCh37 11 124747872 124747872 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 19 55 0 ENST00000397801.1:c.3026G>A p.Gly1009Asp p.G1009D ENST00000397801 NM_022370.3 1009 gGc/gAc 0 -RORA UCSF GRCh37 15 60803566 60803566 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 77 161 0 ENST00000335670.6:c.679C>T p.Pro227Ser p.P227S ENST00000335670 NM_134261.2 227 Cct/Tct 0 -RP1 UCSF GRCh37 8 55537248 55537248 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 64 172 0 ENST00000220676.1:c.806C>T p.Ser269Leu p.S269L ENST00000220676 NM_006269.1 269 tCa/tTa 0 -RP1 UCSF GRCh37 8 55539071 55539071 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 72 128 0 ENST00000220676.1:c.2629G>A p.Val877Met p.V877M ENST00000220676 NM_006269.1 877 Gtg/Atg 0 -RP2 UCSF GRCh37 X 46713551 46713551 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 61 132 0 ENST00000218340.3:c.743C>T p.Ala248Val p.A248V ENST00000218340 NM_006915.2 248 gCa/gTa 0 -RPA1 UCSF GRCh37 17 1775757 1775757 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 24 42 0 ENST00000254719.5:c.391G>A p.Ala131Thr p.A131T ENST00000254719 NM_002945.3 131 Gcg/Acg 0 -RPAP1 UCSF GRCh37 15 41813134 41813134 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 41 58 0 ENST00000304330.4:c.3250G>A p.Val1084Ile p.V1084I ENST00000304330 NM_015540.2 1084 Gtc/Atc 0 -RPE UCSF GRCh37 2 210880814 210880814 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 55 57 138 0 ENST00000359429.6:c.320A>G p.Asp107Gly p.D107G ENST00000359429 NM_199229.2 107 gAc/gGc 0 -RPGRIP1L UCSF GRCh37 16 53692758 53692758 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 32 82 0 ENST00000379925.3:c.1276G>A p.Glu426Lys p.E426K ENST00000379925 NM_015272.2 426 Gaa/Aaa 0 -RPL18 UCSF GRCh37 19 49119203 49119203 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 22 49 0 ENST00000549920.1:c.422G>A p.Gly141Asp p.G141D ENST00000549920 NM_000979.3 141 gGt/gAt 0 -RPL23 UCSF GRCh37 17 37006395 37006395 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 31 44 105 0 ENST00000394332.1:c.413G>A p.Ser138Asn p.S138N ENST00000394332 138 aGc/aAc 0 -RPL8 UCSF GRCh37 8 146016857 146016857 + missense_variant Missense_Mutation SNP G G A snp132_rs11539887 P10_Rec somatic WXS Sanger Illumina HiSeq 120 29 60 0 ENST00000262584.3:c.304C>T p.Leu102Phe p.L102F ENST00000262584 NM_000973.3 102 Ctc/Ttc 0 -RPL8 UCSF GRCh37 8 146016729 146016729 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 179 37 83 0 ENST00000262584.3:c.432G>A p.Lys144= p.K144= ENST00000262584 NM_000973.3 144 aaG/aaA 0 -RPS2 UCSF GRCh37 16 2012774 2012774 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 29 63 0 ENST00000343262.4:c.512G>A p.Gly171Glu p.G171E ENST00000343262 NM_002952.3 171 gGg/gAg 0 -RQCD1 UCSF GRCh37 2 219458860 219458860 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 50 129 0 ENST00000273064.6:c.761C>T p.Pro254Leu p.P254L ENST00000273064 NM_005444.2 254 cCt/cTt 0 -RRBP1 UCSF GRCh37 20 17594837 17594837 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 40 107 0 ENST00000377807.2:c.2924C>T p.Thr975Ile p.T975I ENST00000377807 NM_001042576.1 975 aCc/aTc 0 -RRN3 UCSF GRCh37 16 15188002 15188002 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 13 11 23 0 ENST00000198767.6:c.89G>A p.Gly30Glu p.G30E ENST00000198767 NM_018427.3 30 gGg/gAg 0 -RRP1 UCSF GRCh37 21 45212611 45212611 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 63 139 0 ENST00000497547.1:c.274+1G>A p.X92_splice ENST00000497547 NM_003683.5 0 -RRP15 UCSF GRCh37 1 218480886 218480886 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 41 124 0 ENST00000366932.3:c.617C>T p.Ser206Phe p.S206F ENST00000366932 NM_016052.3 206 tCc/tTc 0 -RSAD1 UCSF GRCh37 17 48562189 48562189 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 35 47 0 ENST00000258955.2:c.1296G>A p.Gln432= p.Q432= ENST00000258955 NM_018346.1 432 caG/caA 0 -RSG1 UCSF GRCh37 1 16558551 16558551 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 46 91 0 ENST00000375599.3:c.769C>T p.Pro257Ser p.P257S ENST00000375599 NM_030907.3 257 Cct/Tct 0 -RSPO1 UCSF GRCh37 1 38095290 38095290 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 29 49 0 ENST00000356545.2:c.44C>T p.Thr15Met p.T15M ENST00000356545 NM_001038633.3 15 aCg/aTg 0 -RSPO2 UCSF GRCh37 8 109001403 109001403 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 206 69 156 0 ENST00000276659.5:c.164G>A p.Cys55Tyr p.C55Y ENST00000276659 NM_178565.4 55 tGt/tAt 0 -RTN4 UCSF GRCh37 2 55252930 55252930 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 73 182 0 ENST00000337526.6:c.2305G>A p.Glu769Lys p.E769K ENST00000337526 NM_020532.4 769 Gaa/Aaa 0 -RTP1 UCSF GRCh37 3 186917483 186917483 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 35 76 0 ENST00000312295.4:c.417G>A p.Arg139= p.R139= ENST00000312295 NM_153708.2 139 cgG/cgA 0 -RTTN UCSF GRCh37 18 67781812 67781812 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 73 182 0 ENST00000255674.6:c.3552C>T p.Leu1184= p.L1184= ENST00000255674 NM_173630.3 1184 ctC/ctT 0 -RUFY3 UCSF GRCh37 4 71634350 71634350 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 91 187 1 ENST00000226328.4:c.668G>A p.Cys223Tyr p.C223Y ENST00000226328 NM_014961.3 223 tGt/tAt 0 -RUSC2 UCSF GRCh37 9 35547678 35547678 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 104 166 0 ENST00000361226.3:c.1160C>T p.Ala387Val p.A387V ENST00000361226 NM_014806.2 387 gCc/gTc 0 -RWDD1 UCSF GRCh37 6 116914127 116914161 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TGGTTGCCTTTTGCAGCTGGAAACAACGTGGAGGT TGGTTGCCTTTTGCAGCTGGAAACAACGTGGAGGT GGTTGCCTTTTGCAGCTGGAAAAAACGGGGGGGG NOVEL P10_Rec Untested WXS Illumina HiSeq 6 0 ENST00000466444.2:c.611-16_629delinsGGTTGCCTTTTGCAGCTGGAAAAAACGGGGGGGG p.X204_splice ENST00000466444 NM_015952.2 0 -RXFP3 UCSF GRCh37 5 33937149 33937149 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 53 90 0 ENST00000330120.3:c.304G>A p.Val102Ile p.V102I ENST00000330120 NM_016568.3 102 Gtt/Att 0 -RXRG UCSF GRCh37 1 165386444 165386444 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 43 150 0 ENST00000359842.5:c.456G>A p.Gly152= p.G152= ENST00000359842 NM_001256570.1 152 ggG/ggA 0 -RYK UCSF GRCh37 3 133941301 133941301 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 50 120 0 ENST00000296084.4:c.309G>A p.Glu103= p.E103= ENST00000296084 NM_001005861.2 103 gaG/gaA 0 -RYR1 UCSF GRCh37 19 38980901 38980901 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 39 69 0 ENST00000359596.3:c.6000C>T p.Ser2000= p.S2000= ENST00000359596 2000 tcC/tcT 0 -RYR2 UCSF GRCh37 1 237837510 237837510 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 82 181 0 ENST00000366574.2:c.8705C>T p.Ala2902Val p.A2902V ENST00000366574 NM_001035.2 2902 gCt/gTt 0 -RYR3 UCSF GRCh37 15 33954719 33954719 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 72 167 0 ENST00000389232.4:c.4988C>T p.Pro1663Leu p.P1663L ENST00000389232 NM_001036.3 1663 cCc/cTc 0 -RYR3 UCSF GRCh37 15 33833074 33833074 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 69 135 0 ENST00000389232.4:c.629G>A p.Gly210Glu p.G210E ENST00000389232 NM_001036.3 210 gGa/gAa 0 -S100PBP UCSF GRCh37 1 33292145 33292145 + missense_variant Missense_Mutation SNP G G T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 86 175 0 ENST00000373475.5:c.445G>T p.Ala149Ser p.A149S ENST00000373475 NM_022753.3 149 Gca/Tca 0 -S100PBP UCSF GRCh37 1 33293638 33293638 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 46 146 0 ENST00000373475.5:c.876G>A p.Glu292= p.E292= ENST00000373475 NM_022753.3 292 gaG/gaA 0 -S1PR3 UCSF GRCh37 9 91616800 91616800 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 117 45 102 0 ENST00000358157.2:c.685G>A p.Val229Met p.V229M ENST00000358157 NM_005226.3 229 Gtg/Atg 0 -SAFB UCSF GRCh37 19 5653129 5653129 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 38 95 0 ENST00000292123.5:c.1297G>A p.Val433Met p.V433M ENST00000292123 NM_002967.3 433 Gtg/Atg 0 -SALL1 UCSF GRCh37 16 51173853 51173853 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 76 105 0 ENST00000251020.4:c.2280C>T p.Pro760= p.P760= ENST00000251020 NM_002968.2 760 ccC/ccT 0 -SAMSN1 UCSF GRCh37 21 15858298 15858298 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 73 193 0 ENST00000400566.1:c.1057G>A p.Asp353Asn p.D353N ENST00000400566 NM_022136.4 353 Gat/Aat 0 -SBF1 UCSF GRCh37 22 50893548 50893548 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 55 58 0 ENST00000380817.3:c.4578G>A p.Glu1526= p.E1526= ENST00000380817 NM_002972.2 1526 gaG/gaA 0 -SBNO2 UCSF GRCh37 19 1122245 1122245 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 11 22 0 ENST00000361757.3:c.1042C>T p.Leu348Phe p.L348F ENST00000361757 NM_014963.2 348 Ctc/Ttc 0 -SCAF8 UCSF GRCh37 6 155145427 155145427 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 113 192 0 ENST00000367178.3:c.1986G>A p.Ser662= p.S662= ENST00000367178 NM_014892.3 662 tcG/tcA 0 -SCAI UCSF GRCh37 9 127791974 127791974 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 35 105 0 ENST00000336505.6:c.275G>A p.Gly92Glu p.G92E ENST00000336505 NM_001144877.2 92 gGa/gAa 0 -SCARA3 UCSF GRCh37 8 27516123 27516123 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 81 152 0 ENST00000301904.3:c.436C>T p.Gln146Ter p.Q146* ENST00000301904 NM_016240.2 146 Cag/Tag 0 -SCARF2 UCSF GRCh37 22 20780139 20780139 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 12 12 0 ENST00000266214.5:c.2139G>A p.Thr713= p.T713= ENST00000266214 NM_153334.4 713 acG/acA 0 -SCARF2 UCSF GRCh37 22 20783609 20783609 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 20 44 0 ENST00000266214.5:c.1458G>A p.Arg486= p.R486= ENST00000266214 NM_153334.4 486 agG/agA 0 -SCEL UCSF GRCh37 13 78182190 78182190 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 2 40 92 0 ENST00000349847.3:c.1158-1G>A p.X386_splice ENST00000349847 NM_144777.2 0 -SCFD1 UCSF GRCh37 14 31204805 31204805 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 50 114 0 ENST00000458591.2:c.1919G>A p.Gly640Glu p.G640E ENST00000458591 NM_016106.3 640 gGa/gAa 0 -SCG2 UCSF GRCh37 2 224463348 224463348 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 123 98 221 0 ENST00000305409.2:c.653G>A p.Arg218Lys p.R218K ENST00000305409 NM_003469.4 218 aGg/aAg 0 -SCG2 UCSF GRCh37 2 224463362 224463362 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 128 108 248 0 ENST00000305409.2:c.639C>T p.Asn213= p.N213= ENST00000305409 NM_003469.4 213 aaC/aaT 0 -SCGB1A1 UCSF GRCh37 11 62189706 62189706 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 66 115 0 ENST00000278282.2:c.69C>T p.Ile23= p.I23= ENST00000278282 NM_003357.4 23 atC/atT 0 -SCN11A UCSF GRCh37 3 38938584 38938584 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 62 117 0 ENST00000302328.3:c.2155G>A p.Gly719Ser p.G719S ENST00000302328 NM_014139.2 719 Ggc/Agc 0 -SCN2A UCSF GRCh37 2 166237114 166237114 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 49 140 0 ENST00000283256.6:c.4321C>T p.Pro1441Ser p.P1441S ENST00000283256 NM_021007.2 1441 Ccc/Tcc 0 -SCN3A UCSF GRCh37 2 166018830 166018830 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 84 94 0 ENST00000360093.3:c.1019G>A p.Gly340Asp p.G340D ENST00000360093 NM_001081677.1 340 gGc/gAc 0 -SCN4A UCSF GRCh37 17 62028875 62028875 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 72 134 0 ENST00000435607.1:c.2762C>T p.Thr921Ile p.T921I ENST00000435607 NM_000334.4 921 aCc/aTc 0 -SCN8A UCSF GRCh37 12 52162792 52162792 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 109 97 196 0 ENST00000354534.6:c.3045G>A p.Val1015= p.V1015= ENST00000354534 NM_014191.3 1015 gtG/gtA 0 -SCNN1A UCSF GRCh37 12 6471222 6471222 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 50 117 0 ENST00000228916.2:c.870C>T p.Asn290= p.N290= ENST00000228916 NM_001038.5 290 aaC/aaT 0 -SCRIB UCSF GRCh37 8 144896224 144896224 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 8 11 0 ENST00000320476.3:c.224C>T p.Pro75Leu p.P75L ENST00000320476 NM_015356.4 75 cCt/cTt 0 -SCRIB UCSF GRCh37 8 144888643 144888643 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 8 15 0 ENST00000320476.3:c.2280C>T p.Ile760= p.I760= ENST00000320476 NM_015356.4 760 atC/atT 0 -SCRIB UCSF GRCh37 8 144891862 144891862 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 164 41 62 0 ENST00000320476.3:c.1557C>T p.Gly519= p.G519= ENST00000320476 NM_015356.4 519 ggC/ggT 0 -SDCCAG3 UCSF GRCh37 9 139301920 139301920 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 22 36 0 ENST00000357365.3:c.496G>A p.Asp166Asn p.D166N ENST00000357365 NM_001039707.1 166 Gat/Aat 0 -SDCCAG8 UCSF GRCh37 1 243542141 243542141 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 69 137 0 ENST00000366541.3:c.1592C>T p.Ser531Phe p.S531F ENST00000366541 NM_006642.3 531 tCt/tTt 0 -SDK1 UCSF GRCh37 7 4185534 4185534 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 34 58 0 ENST00000404826.2:c.4409C>T p.Thr1470Ile p.T1470I ENST00000404826 NM_152744.3 1470 aCc/aTc 0 -SDK1 UCSF GRCh37 7 3991372 3991372 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 33 92 0 ENST00000404826.2:c.970G>A p.Asp324Asn p.D324N ENST00000404826 NM_152744.3 324 Gac/Aac 0 -SDK2 UCSF GRCh37 17 71429901 71429901 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 54 90 0 ENST00000392650.3:c.1282G>A p.Ala428Thr p.A428T ENST00000392650 NM_001144952.1 428 Gcg/Acg 0 -SDR42E1 UCSF GRCh37 16 82033718 82033718 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 105 88 224 0 ENST00000328945.5:c.180C>T p.His60= p.H60= ENST00000328945 NM_145168.2 60 caC/caT 0 -SEC16A UCSF GRCh37 9 139369238 139369238 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 208 92 199 0 ENST00000313050.7:c.2830G>A p.Asp944Asn p.D944N ENST00000313050 NM_014866.1 944 Gat/Aat 0 -SEC16A UCSF GRCh37 9 139350212 139350212 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 18 30 0 ENST00000313050.7:c.5698C>T p.Leu1900Phe p.L1900F ENST00000313050 NM_014866.1 1900 Ctc/Ttc 0 -SEC16A UCSF GRCh37 9 139351971 139351971 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 47 94 0 ENST00000313050.7:c.5475C>T p.Tyr1825= p.Y1825= ENST00000313050 NM_014866.1 1825 taC/taT 0 -SEC23A UCSF GRCh37 14 39532540 39532540 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 23 67 0 ENST00000307712.6:c.1386G>A p.Glu462= p.E462= ENST00000307712 NM_006364.2 462 gaG/gaA 0 -SEC24C UCSF GRCh37 10 75530134 75530134 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 129 117 234 0 ENST00000339365.2:c.2959C>T p.Leu987Phe p.L987F ENST00000339365 NM_004922.3 987 Ctc/Ttc 0 -SEC24C UCSF GRCh37 10 75510875 75510875 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 45 87 0 ENST00000339365.2:c.182G>A p.Arg61Lys p.R61K ENST00000339365 NM_004922.3 61 aGa/aAa 0 -SEC61B UCSF GRCh37 9 101984832 101984832 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 26 38 0 ENST00000223641.4:c.8G>A p.Gly3Asp p.G3D ENST00000223641 NM_006808.2 3 gGt/gAt 0 -SECTM1 UCSF GRCh37 17 80280234 80280234 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 37 56 0 ENST00000269389.3:c.550C>T p.Leu184Phe p.L184F ENST00000269389 NM_003004.2 184 Ctc/Ttc 0 -SELO UCSF GRCh37 22 50649208 50649208 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 5 79 92 0 ENST00000380903.2:c.1219G>A p.Ala407Thr p.A407T ENST00000380903 NM_031454.1 407 Gcc/Acc 0 -SEMA3E UCSF GRCh37 7 82997288 82997288 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 70 137 0 ENST00000307792.3:c.1942G>A p.Asp648Asn p.D648N ENST00000307792 NM_012431.2 648 Gat/Aat 0 -SEMA3F UCSF GRCh37 3 50219793 50219793 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 60 137 0 ENST00000002829.3:c.720G>A p.Gln240= p.Q240= ENST00000002829 NM_004186.3 240 caG/caA 0 -SEMA4B UCSF GRCh37 15 90771584 90771584 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 57 98 0 ENST00000411539.2:c.2223G>A p.Arg741= p.R741= ENST00000411539 NM_198925.2 741 cgG/cgA 0 -SEMA4C UCSF GRCh37 2 97533552 97533552 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 58 121 0 ENST00000305476.5:c.72G>A p.Trp24Ter p.W24* ENST00000305476 NM_017789.4 24 tgG/tgA 0 -SEMA6A UCSF GRCh37 5 115782564 115782564 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 53 115 0 ENST00000343348.6:c.2838C>T p.His946= p.H946= ENST00000343348 NM_020796.3 946 caC/caT 0 -SENP1 UCSF GRCh37 12 48458896 48458896 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P10_Rec Untested WXS Illumina HiSeq 68 0 ENST00000448372.1:c.1227delA p.Gly410ValfsTer4 p.G410Vfs*4 ENST00000448372 NM_001267595.1 409 aaA/aa 0 -SENP1 UCSF GRCh37 12 48441857 48441857 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 53 161 0 ENST00000448372.1:c.1618G>A p.Asp540Asn p.D540N ENST00000448372 NM_001267595.1 540 Gac/Aac 0 -SERAC1 UCSF GRCh37 6 158551514 158551514 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 25 60 0 ENST00000367104.3:c.743G>A p.Gly248Asp p.G248D ENST00000367104 NM_032861.3 248 gGt/gAt 0 -SERPINA11 UCSF GRCh37 14 94914727 94914727 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 110 182 0 ENST00000334708.3:c.385C>T p.Pro129Ser p.P129S ENST00000334708 NM_001080451.1 129 Ccc/Tcc 0 -SERPINH1 UCSF GRCh37 11 75277902 75277902 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 38 75 0 ENST00000358171.3:c.508C>T p.Leu170= p.L170= ENST00000358171 NM_001235.3 170 Ctg/Ttg 0 -SERPINI2 UCSF GRCh37 3 167159929 167159929 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 27 87 0 ENST00000264677.4:c.1186G>A p.Glu396Lys p.E396K ENST00000264677 396 Gag/Aag 0 -SESN2 UCSF GRCh37 1 28601468 28601468 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 57 99 0 ENST00000253063.3:c.1153G>A p.Asp385Asn p.D385N ENST00000253063 NM_031459.4 385 Gac/Aac 0 -SETD1A UCSF GRCh37 16 30977210 30977210 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 58 100 0 ENST00000262519.8:c.2008G>A p.Gly670Arg p.G670R ENST00000262519 NM_014712.1 670 Ggg/Agg 0 -SETD1B UCSF GRCh37 12 122261376 122261376 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 9 16 0 ENST00000604567.1:c.4891G>A p.Glu1631Lys p.E1631K ENST00000604567 1631 Gaa/Aaa 0 -SEZ6 UCSF GRCh37 17 27286234 27286234 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.000,snp132_rs117276370 P10_Rec Untested WXS Illumina HiSeq 68 74 125 1 ENST00000317338.12:c.1916G>A p.Arg639His p.R639H ENST00000317338 639 cGc/cAc 0 -SF1 UCSF GRCh37 11 64533474 64533474 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 13 14 0 ENST00000377390.3:c.1736C>T p.Pro579Leu p.P579L ENST00000377390 NM_004630.3 579 cCt/cTt 0 -SF3A1 UCSF GRCh37 22 30741012 30741012 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 111 163 0 ENST00000215793.8:c.561G>A p.Gln187= p.Q187= ENST00000215793 NM_005877.4 187 caG/caA 0 -SF3B3 UCSF GRCh37 16 70566422 70566422 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 125 95 198 0 ENST00000302516.5:c.611C>T p.Thr204Ile p.T204I ENST00000302516 NM_012426.4 204 aCc/aTc 0 -SGK1 UCSF GRCh37 6 134528570 134528570 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 70 167 0 ENST00000367858.5:c.286-1G>A p.X96_splice ENST00000367858 NM_001143676.1 0 -SGPL1 UCSF GRCh37 10 72631678 72631678 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 51 116 0 ENST00000373202.3:c.994C>T p.Pro332Ser p.P332S ENST00000373202 NM_003901.3 332 Cca/Tca 0 -SGPP1 UCSF GRCh37 14 64153035 64153035 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 81 184 0 ENST00000247225.6:c.1114G>A p.Gly372Arg p.G372R ENST00000247225 NM_030791.2 372 Ggg/Agg 0 -SH2B1 UCSF GRCh37 16 28877820 28877820 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 42 89 0 ENST00000322610.8:c.405C>T p.Ser135= p.S135= ENST00000322610 135 tcC/tcT 0 -SH2D5 UCSF GRCh37 1 21050210 21050210 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 13 26 0 ENST00000444387.2:c.817G>A p.Ala273Thr p.A273T ENST00000444387 NM_001103161.1 273 Gca/Aca 0 -SH3BP4 UCSF GRCh37 2 235949623 235949623 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 66 140 0 ENST00000344528.4:c.210C>T p.Asn70= p.N70= ENST00000344528 70 aaC/aaT 0 -SH3GLB2 UCSF GRCh37 9 131777142 131777142 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 134 67 157 0 ENST00000372559.1:c.376G>A p.Gly126Arg p.G126R ENST00000372559 NM_001287046.1 126 Gga/Aga 0 -SH3GLB2 UCSF GRCh37 9 131772104 131772104 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 13 27 0 ENST00000372559.1:c.785C>T p.Thr262Ile p.T262I ENST00000372559 NM_001287046.1 262 aCc/aTc 0 -SH3KBP1 UCSF GRCh37 X 19564131 19564131 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 64 124 0 ENST00000397821.3:c.1532G>A p.Ser511Asn p.S511N ENST00000397821 NM_031892.2 511 aGt/aAt 0 -SH3KBP1 UCSF GRCh37 X 19555892 19555892 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 77 151 0 ENST00000397821.3:c.1899G>A p.Glu633= p.E633= ENST00000397821 NM_031892.2 633 gaG/gaA 0 -SH3PXD2B UCSF GRCh37 5 171849445 171849445 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 19 41 0 ENST00000311601.5:c.131G>A p.Arg44His p.R44H ENST00000311601 NM_001017995.2 44 cGc/cAc 0 -SH3RF3 UCSF GRCh37 2 109964222 109964222 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 48 108 0 ENST00000309415.6:c.666C>T p.Val222= p.V222= ENST00000309415 NM_001099289.1 222 gtC/gtT 0 -SH3TC2 UCSF GRCh37 5 148406208 148406208 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 63 197 0 ENST00000515425.1:c.2980C>T p.Leu994Phe p.L994F ENST00000515425 NM_024577.3 994 Ctc/Ttc 0 -SHB UCSF GRCh37 9 38068081 38068081 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 9 10 0 ENST00000377707.3:c.562G>A p.Val188Met p.V188M ENST00000377707 NM_003028.2 188 Gtg/Atg 0 -SHC1 UCSF GRCh37 1 154942858 154942858 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 29 66 0 ENST00000368445.5:c.145C>T p.Leu49= p.L49= ENST00000368445 NM_183001.4 49 Ctg/Ttg 0 -SHCBP1L UCSF GRCh37 1 182908644 182908644 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 30 77 0 ENST00000367547.3:c.815G>A p.Ser272Asn p.S272N ENST00000367547 NM_030933.2 272 aGt/aAt 0 -SHROOM4 UCSF GRCh37 X 50377013 50377013 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 41 98 0 ENST00000289292.7:c.2060C>T p.Pro687Leu p.P687L ENST00000289292 687 cCt/cTt 0 -SIDT1 UCSF GRCh37 3 113251941 113251941 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 7 17 0 ENST00000264852.4:c.73C>T p.Pro25Ser p.P25S ENST00000264852 NM_017699.2 25 Ccg/Tcg 0 -SIGLEC1 UCSF GRCh37 20 3672566 3672566 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 38 92 0 ENST00000344754.4:c.4314G>A p.Gly1438= p.G1438= ENST00000344754 NM_023068.3 1438 ggG/ggA 0 -SIGLEC8 UCSF GRCh37 19 51961292 51961292 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 116 229 0 ENST00000321424.3:c.350G>A p.Arg117Lys p.R117K ENST00000321424 NM_014442.2 117 aGg/aAg 0 -SIGLEC8 UCSF GRCh37 19 51960915 51960915 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 46 126 0 ENST00000321424.3:c.533C>T p.Pro178Leu p.P178L ENST00000321424 NM_014442.2 178 cCc/cTc 0 -SIN3A UCSF GRCh37 15 75664459 75664459 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 52 133 0 ENST00000360439.4:c.3683C>T p.Ala1228Val p.A1228V ENST00000360439 NM_001145357.1 1228 gCa/gTa 0 -SIPA1 UCSF GRCh37 11 65408730 65408730 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 56 106 0 ENST00000394224.3:c.338C>T p.Pro113Leu p.P113L ENST00000394224 NM_153253.29 113 cCt/cTt 0 -SIPA1L2 UCSF GRCh37 1 232577605 232577605 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 18 33 0 ENST00000262861.4:c.3447C>T p.Ser1149= p.S1149= ENST00000262861 NM_020808.3 1149 tcC/tcT 0 -SIRPA UCSF GRCh37 20 1902070 1902070 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 67 143 0 ENST00000356025.3:c.466C>T p.Pro156Ser p.P156S ENST00000356025 NM_080792.2 156 Cct/Tct 0 -SIT1 UCSF GRCh37 9 35650018 35650018 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 19 35 0 ENST00000259608.3:c.418C>T p.Pro140Ser p.P140S ENST00000259608 NM_014450.2 140 Ccc/Tcc 0 -SIX1 UCSF GRCh37 14 61113237 61113237 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 42 88 0 ENST00000247182.6:c.619G>A p.Glu207Lys p.E207K ENST00000247182 NM_005982.3 207 Gaa/Aaa 0 -SKIL UCSF GRCh37 3 170078528 170078528 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 122 118 214 0 ENST00000259119.4:c.409C>T p.Pro137Ser p.P137S ENST00000259119 137 Cct/Tct 0 -SKIC2 UCSF GRCh37 6 31935054 31935054 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 70 106 0 ENST00000375394.2:c.2483G>A p.Arg828His p.R828H ENST00000375394 NM_006929.4 828 cGc/cAc 0 -SKIC2 UCSF GRCh37 6 31928006 31928006 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 141 135 226 0 ENST00000375394.2:c.246G>A p.Gln82= p.Q82= ENST00000375394 NM_006929.4 82 caG/caA 0 -SKIV2L2 UCSF GRCh37 5 54637533 54637533 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 44 140 0 ENST00000230640.5:c.715G>A p.Gly239Ser p.G239S ENST00000230640 NM_015360.4 239 Ggt/Agt 0 -SLC10A1 UCSF GRCh37 14 70263533 70263533 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 29 65 0 ENST00000216540.4:c.340G>A p.Gly114Arg p.G114R ENST00000216540 NM_003049.3 114 Ggg/Agg 0 -SLC12A1 UCSF GRCh37 15 48548020 48548020 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 52 127 0 ENST00000380993.3:c.1955G>A p.Gly652Asp p.G652D ENST00000380993 NM_000338.2 652 gGc/gAc 0 -SLC12A1 UCSF GRCh37 15 48559879 48559879 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 93 222 0 ENST00000380993.3:c.2276G>A p.Gly759Asp p.G759D ENST00000380993 NM_000338.2 759 gGt/gAt 0 -SLC12A5 UCSF GRCh37 20 44683654 44683654 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 28 58 0 ENST00000454036.2:c.2848G>A p.Glu950Lys p.E950K ENST00000454036 NM_001134771.1 950 Gag/Aag 0 -SLC12A8 UCSF GRCh37 3 124826835 124826835 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 48 108 0 ENST00000393469.4:c.1195G>A p.Asp399Asn p.D399N ENST00000393469 NM_001195483.1 399 Gac/Aac 0 -SLC17A8 UCSF GRCh37 12 100813607 100813607 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 54 132 0 ENST00000323346.5:c.1440G>A p.Trp480Ter p.W480* ENST00000323346 NM_001145288.1 480 tgG/tgA 0 -SLC17A9 UCSF GRCh37 20 61593991 61593991 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 43 70 0 ENST00000370351.4:c.513G>A p.Gly171= p.G171= ENST00000370351 NM_022082.3 171 ggG/ggA 0 -SLC18A3 UCSF GRCh37 10 50818864 50818864 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 7 17 0 ENST00000374115.3:c.78G>A p.Gln26= p.Q26= ENST00000374115 NM_003055.2 26 caG/caA 0 -SLC20A1 UCSF GRCh37 2 113417272 113417272 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 99 197 0 ENST00000272542.3:c.1540C>T p.Leu514Phe p.L514F ENST00000272542 NM_005415.4 514 Ctc/Ttc 0 -SLC22A12 UCSF GRCh37 11 64359268 64359268 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 39 57 0 ENST00000377574.1:c.240C>T p.Gly80= p.G80= ENST00000377574 NM_144585.3 80 ggC/ggT 0 -SLC22A15 UCSF GRCh37 1 116569552 116569552 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 119 116 252 0 ENST00000369503.4:c.637C>T p.Gln213Ter p.Q213* ENST00000369503 NM_018420.2 213 Caa/Taa 0 -SLC22A25 UCSF GRCh37 11 62996921 62996921 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 79 163 0 ENST00000306494.6:c.204C>T p.Ser68= p.S68= ENST00000306494 NM_199352.3 68 agC/agT 0 -SLC22A7 UCSF GRCh37 6 43266456 43266456 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 44 96 0 ENST00000372585.5:c.360C>T p.Asp120= p.D120= ENST00000372585 NM_153320.2 120 gaC/gaT 0 -SLC22A8 UCSF GRCh37 11 62762197 62762197 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 43 106 0 ENST00000336232.2:c.1033G>A p.Ala345Thr p.A345T ENST00000336232 NM_001184736.1 345 Gct/Act 0 -SLC25A2 UCSF GRCh37 5 140682715 140682715 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 82 151 0 ENST00000239451.4:c.718C>T p.Leu240Phe p.L240F ENST00000239451 NM_031947.2 240 Ctt/Ttt 0 -SLC25A23 UCSF GRCh37 19 6454397 6454397 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 83 163 0 ENST00000301454.4:c.732C>T p.Gly244= p.G244= ENST00000301454 NM_024103.2 244 ggC/ggT 0 -SLC25A47 UCSF GRCh37 14 100793657 100793657 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 48 73 0 ENST00000361529.3:c.277C>T p.Pro93Ser p.P93S ENST00000361529 NM_207117.2 93 Ccc/Tcc 0 -SLC25A47 UCSF GRCh37 14 100792129 100792129 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 13 12 30 0 ENST00000361529.3:c.33C>T p.Val11= p.V11= ENST00000361529 NM_207117.2 11 gtC/gtT 0 -SLC26A3 UCSF GRCh37 7 107427920 107427920 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 75 204 0 ENST00000340010.5:c.770C>T p.Thr257Ile p.T257I ENST00000340010 NM_000111.2 257 aCt/aTt 0 -SLC26A7 UCSF GRCh37 8 92406050 92406050 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 246 70 188 0 ENST00000276609.3:c.1802G>A p.Ser601Asn p.S601N ENST00000276609 NM_052832.2 601 aGt/aAt 0 -SLC26A8 UCSF GRCh37 6 35945047 35945047 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 75 149 0 ENST00000355574.2:c.1107C>T p.Ser369= p.S369= ENST00000355574 NM_001193476.1 369 tcC/tcT 0 -SLC27A1 UCSF GRCh37 19 17608123 17608123 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 21 36 0 ENST00000252595.7:c.1056G>A p.Ala352= p.A352= ENST00000252595 NM_198580.1 352 gcG/gcA 0 -SLC27A6 UCSF GRCh37 5 128368798 128368798 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 33 81 0 ENST00000262462.4:c.1684-1G>A p.X562_splice ENST00000262462 0 -SLC29A1 UCSF GRCh37 6 44197742 44197742 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 28 69 0 ENST00000371708.1:c.413C>T p.Pro138Leu p.P138L ENST00000371708 138 cCc/cTc 0 -SLC2A12 UCSF GRCh37 6 134349911 134349911 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 82 167 0 ENST00000275230.5:c.1052C>T p.Ser351Phe p.S351F ENST00000275230 NM_145176.2 351 tCc/tTc 0 -SLC2A8 UCSF GRCh37 9 130167116 130167116 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 31 55 0 ENST00000373371.3:c.996C>T p.Ser332= p.S332= ENST00000373371 NM_014580.4 332 agC/agT 0 -SLC32A1 UCSF GRCh37 20 37356347 37356347 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 52 71 0 ENST00000217420.1:c.643G>A p.Val215Met p.V215M ENST00000217420 NM_080552.2 215 Gtg/Atg 0 -SLC34A1 UCSF GRCh37 5 176814997 176814997 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 24 40 0 ENST00000324417.5:c.647C>T p.Ala216Val p.A216V ENST00000324417 NM_003052.4 216 gCc/gTc 0 -SLC34A3 UCSF GRCh37 9 140130583 140130583 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 31 68 0 ENST00000361134.2:c.1515G>A p.Gly505= p.G505= ENST00000361134 NM_080877.2 505 ggG/ggA 0 -SLC36A1 UCSF GRCh37 5 150838470 150838470 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 49 118 0 ENST00000243389.3:c.117G>A p.Gln39= p.Q39= ENST00000243389 NM_078483.2 39 caG/caA 0 -SLC38A2 UCSF GRCh37 12 46756118 46756118 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 33 74 0 ENST00000256689.5:c.1371C>T p.Phe457= p.F457= ENST00000256689 NM_018976.4 457 ttC/ttT 0 -SLC39A11 UCSF GRCh37 17 70645311 70645311 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 30 61 0 ENST00000542342.2:c.789C>T p.Phe263= p.F263= ENST00000542342 NM_001159770.1 263 ttC/ttT 0 -SLC39A12 UCSF GRCh37 10 18292187 18292187 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 169 80 206 0 ENST00000377369.2:c.1847G>A p.Gly616Glu p.G616E ENST00000377369 NM_001145195.1 616 gGa/gAa 0 -SLC39A14 UCSF GRCh37 8 22277162 22277162 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 86 153 0 ENST00000289952.5:c.1430C>T p.Thr477Ile p.T477I ENST00000289952 NM_001135153.1 477 aCc/aTc 0 -SLC39A4 UCSF GRCh37 8 145641314 145641314 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 9 20 0 ENST00000301305.3:c.354C>T p.Leu118= p.L118= ENST00000301305 NM_130849.3 118 ctC/ctT 0 -SLC41A3 UCSF GRCh37 3 125786943 125786943 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 57 125 0 ENST00000315891.6:c.120C>T p.Leu40= p.L40= ENST00000315891 NM_017836.3 40 ctC/ctT 0 -SLC44A1 UCSF GRCh37 9 108061522 108061522 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 36 121 0 ENST00000374720.3:c.58C>T p.Pro20Ser p.P20S ENST00000374720 NM_080546.3 20 Ccg/Tcg 0 -SLC44A2 UCSF GRCh37 19 10742341 10742341 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 37 81 0 ENST00000335757.5:c.542G>A p.Gly181Asp p.G181D ENST00000335757 181 gGt/gAt 0 -SLC45A2 UCSF GRCh37 5 33947310 33947310 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 113 109 219 0 ENST00000296589.4:c.1326C>T p.Pro442= p.P442= ENST00000296589 NM_016180.3 442 ccC/ccT 0 -SLC4A10 UCSF GRCh37 2 162757488 162757488 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 56 167 0 ENST00000446997.1:c.1409G>A p.Gly470Glu p.G470E ENST00000446997 NM_001178015.1 470 gGa/gAa 0 -SLC4A2 UCSF GRCh37 7 150772436 150772436 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 68 81 0 ENST00000413384.2:c.3142C>T p.Leu1048Phe p.L1048F ENST00000413384 NM_003040.3 1048 Ctc/Ttc 0 -SLC4A3 UCSF GRCh37 2 220504259 220504259 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 44 83 0 ENST00000317151.3:c.3079G>A p.Asp1027Asn p.D1027N ENST00000317151 1027 Gac/Aac 0 -SLC4A5 UCSF GRCh37 2 74492354 74492354 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 70 136 0 ENST00000346834.4:c.439G>A p.Glu147Lys p.E147K ENST00000346834 147 Gaa/Aaa 0 -SLC4A9 UCSF GRCh37 5 139744000 139744000 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 52 97 0 ENST00000507527.1:c.1513G>A p.Ala505Thr p.A505T ENST00000507527 505 Gct/Act 0 -SLC5A10 UCSF GRCh37 17 18918429 18918429 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 24 36 0 ENST00000395645.3:c.1158C>T p.Asn386= p.N386= ENST00000395645 NM_001042450.2 386 aaC/aaT 0 -SLC5A2 UCSF GRCh37 16 31499971 31499971 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 10 17 0 ENST00000330498.3:c.1158G>A p.Met386Ile p.M386I ENST00000330498 NM_003041.3 386 atG/atA 0 -SLC5A5 UCSF GRCh37 19 17994721 17994721 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 9 9 0 ENST00000222248.3:c.1392G>A p.Thr464= p.T464= ENST00000222248 NM_000453.2 464 acG/acA 0 -SLC5A8 UCSF GRCh37 12 101581270 101581270 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 52 139 0 ENST00000536262.2:c.857G>A p.Gly286Glu p.G286E ENST00000536262 NM_145913.3 286 gGa/gAa 0 -SLC6A17 UCSF GRCh37 1 110717545 110717545 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 29 69 0 ENST00000331565.4:c.716G>A p.Gly239Glu p.G239E ENST00000331565 NM_001010898.2 239 gGg/gAg 0 -SLC7A14 UCSF GRCh37 3 170219032 170219032 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 57 96 0 ENST00000231706.5:c.407G>A p.Gly136Asp p.G136D ENST00000231706 NM_020949.2 136 gGc/gAc 0 -SLC7A5 UCSF GRCh37 16 87873374 87873374 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 35 64 0 ENST00000261622.4:c.873G>A p.Leu291= p.L291= ENST00000261622 NM_003486.5 291 ctG/ctA 0 -SLC8A2 UCSF GRCh37 19 47935628 47935628 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 54 86 0 ENST00000236877.6:c.2185C>T p.Leu729= p.L729= ENST00000236877 NM_015063.2 729 Ctg/Ttg 0 -SLCO1B1 UCSF GRCh37 12 21377716 21377716 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 75 157 0 ENST00000256958.2:c.1808C>T p.Ser603Phe p.S603F ENST00000256958 NM_006446.4 603 tCc/tTc 0 -SLCO1B7 UCSF GRCh37 12 21175906 21175906 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 125 101 211 0 ENST00000421593.2:c.463G>A p.Glu155Lys p.E155K ENST00000421593 NM_001009562.4 155 Gaa/Aaa 0 -SLCO1B7 UCSF GRCh37 12 21176207 21176207 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 87 62 190 0 ENST00000421593.2:c.572G>A p.Gly191Glu p.G191E ENST00000421593 NM_001009562.4 191 gGa/gAa 0 -SLCO3A1 UCSF GRCh37 15 92663699 92663699 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 93 147 0 ENST00000318445.6:c.1014C>T p.Ile338= p.I338= ENST00000318445 NM_013272.3 338 atC/atT 0 -SLFN11 UCSF GRCh37 17 33689878 33689878 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 93 171 0 ENST00000308377.4:c.949G>A p.Val317Ile p.V317I ENST00000308377 NM_152270.3 317 Gta/Ata 0 -SLFN5 UCSF GRCh37 17 33592592 33592592 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 100 157 1 ENST00000299977.4:c.2361G>A p.Pro787= p.P787= ENST00000299977 NM_144975.3 787 ccG/ccA 0 -SLIT2 UCSF GRCh37 4 20618640 20618640 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 53 128 0 ENST00000504154.1:c.3955G>A p.Asp1319Asn p.D1319N ENST00000504154 NM_004787.1 1319 Gac/Aac 0 -SLIT3 UCSF GRCh37 5 168233465 168233465 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 50 106 1 ENST00000519560.1:c.921G>A p.Glu307= p.E307= ENST00000519560 NM_003062.3 307 gaG/gaA 0 -SLITRK3 UCSF GRCh37 3 164907600 164907600 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 92 252 0 ENST00000241274.3:c.1019G>A p.Arg340Gln p.R340Q ENST00000241274 NM_014926.2 340 cGa/cAa 0 -SLITRK3 UCSF GRCh37 3 164907019 164907019 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 65 140 0 ENST00000241274.3:c.1600C>T p.Leu534= p.L534= ENST00000241274 NM_014926.2 534 Ctg/Ttg 0 -SLK UCSF GRCh37 10 105727625 105727625 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 73 142 0 ENST00000369755.3:c.122G>A p.Gly41Asp p.G41D ENST00000369755 NM_014720.2 41 gGc/gAc 0 -SLX4 UCSF GRCh37 16 3651005 3651005 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 40 97 0 ENST00000294008.3:c.1138G>A p.Gly380Ser p.G380S ENST00000294008 NM_032444.2 380 Ggt/Agt 0 -SMAD4 UCSF GRCh37 18 48604826 48604826 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 82 58 147 0 ENST00000342988.3:c.1648C>T p.Pro550Ser p.P550S ENST00000342988 NM_005359.5 550 Cct/Tct 0 -SMARCA2 UCSF GRCh37 9 2123736 2123736 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 26 52 0 ENST00000349721.2:c.3780G>A p.Arg1260= p.R1260= ENST00000349721 NM_003070.3 1260 cgG/cgA 0 -SMARCC1 UCSF GRCh37 3 47663775 47663775 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 73 220 0 ENST00000254480.5:c.2703G>A p.Glu901= p.E901= ENST00000254480 NM_003074.3 901 gaG/gaA 0 -SMCR8 UCSF GRCh37 17 18220963 18220963 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 105 154 0 ENST00000406438.3:c.1860G>A p.Arg620= p.R620= ENST00000406438 NM_144775.2 620 agG/agA 0 -SMG6 UCSF GRCh37 17 2200618 2200618 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 44 121 0 ENST00000263073.6:c.2070G>A p.Gln690= p.Q690= ENST00000263073 NM_017575.4 690 caG/caA 0 -SMG8 UCSF GRCh37 17 57290819 57290819 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 114 225 0 ENST00000300917.5:c.2635G>A p.Ala879Thr p.A879T ENST00000300917 NM_018149.6 879 Gct/Act 0 -SMG9 UCSF GRCh37 19 44251629 44251629 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 46 86 0 ENST00000270066.6:c.553G>A p.Asp185Asn p.D185N ENST00000270066 NM_019108.2 185 Gat/Aat 0 -SMG9 UCSF GRCh37 19 44251950 44251950 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 19 41 0 ENST00000270066.6:c.325G>A p.Gly109Arg p.G109R ENST00000270066 NM_019108.2 109 Ggg/Agg 0 -SMOX UCSF GRCh37 20 4164244 4164244 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 32 93 0 ENST00000305958.4:c.1473G>A p.Gly491= p.G491= ENST00000305958 NM_175839.2 491 ggG/ggA 0 -SMPD3 UCSF GRCh37 16 68405569 68405569 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 19 23 37 0 ENST00000219334.5:c.516C>T p.Asp172= p.D172= ENST00000219334 NM_018667.3 172 gaC/gaT 0 -SMPD4 UCSF GRCh37 2 130911459 130911459 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 28 102 0 ENST00000409031.1:c.1826C>T p.Ser609Phe p.S609F ENST00000409031 NM_017951.4 609 tCc/tTc 0 -SMYD4 UCSF GRCh37 17 1690757 1690757 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 11 18 0 ENST00000305513.7:c.1679C>T p.Ser560Leu p.S560L ENST00000305513 NM_052928.2 560 tCa/tTa 0 -SNAP47 UCSF GRCh37 1 227935765 227935765 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 38 90 0 ENST00000315781.5:c.463G>A p.Ala155Thr p.A155T ENST00000315781 155 Gca/Aca 0 -SNAP91 UCSF GRCh37 6 84302924 84302924 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 82 163 0 ENST00000369694.2:c.1751C>T p.Pro584Leu p.P584L ENST00000369694 NM_001242792.1 584 cCt/cTt 0 -SNAPC4 UCSF GRCh37 9 139272750 139272750 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 15 20 0 ENST00000298532.2:c.3529G>A p.Glu1177Lys p.E1177K ENST00000298532 NM_003086.2 1177 Gag/Aag 0 -SNAPC4 UCSF GRCh37 9 139273417 139273417 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 10 23 0 ENST00000298532.2:c.2862G>A p.Gly954= p.G954= ENST00000298532 NM_003086.2 954 ggG/ggA 0 -SMT-ND1 UCSF GRCh37 7 127338952 127338952 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 37 114 0 ENST00000354725.3:c.373G>A p.Glu125Lys p.E125K ENST00000354725 NM_014390.2 125 Gaa/Aaa 0 -SNRNP70 UCSF GRCh37 19 49611115 49611115 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 9 14 0 ENST00000598441.1:c.729G>A p.Glu243= p.E243= ENST00000598441 243 gaG/gaA 0 -SNTB1 UCSF GRCh37 8 121823749 121823749 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 25 29 0 ENST00000395601.3:c.335G>A p.Gly112Asp p.G112D ENST00000395601 NM_021021.3 112 gGc/gAc 0 -SNX10 UCSF GRCh37 7 26411640 26411641 + frameshift_variant Frame_Shift_Del DEL TA TA - NOVEL P10_Rec Untested WXS Illumina HiSeq 56 0 ENST00000338523.4:c.512_513del p.Tyr171Ter p.Y171* ENST00000338523 NM_013322.2 171 TAt/t 0 -SNX14 UCSF GRCh37 6 86217778 86217778 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 34 60 0 ENST00000314673.3:c.2654-1G>A p.X885_splice ENST00000314673 NM_153816.3 0 -SNX25 UCSF GRCh37 4 186272737 186272737 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 57 135 0 ENST00000264694.8:c.1948C>T p.Pro650Ser p.P650S ENST00000264694 NM_031953.2 650 Cct/Tct 0 -SNX3 UCSF GRCh37 6 108582003 108582003 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 25 56 0 ENST00000230085.8:c.123C>T p.Val41= p.V41= ENST00000230085 NM_003795.4 41 gtC/gtT 0 -SNX30 UCSF GRCh37 9 115598667 115598667 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 199 96 159 0 ENST00000374232.3:c.792G>A p.Gln264= p.Q264= ENST00000374232 NM_001012994.1 264 caG/caA 0 -SOCS4 UCSF GRCh37 14 55510165 55510165 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 66 146 0 ENST00000339298.2:c.406C>T p.Pro136Ser p.P136S ENST00000339298 136 Cct/Tct 0 -SOCS7 UCSF GRCh37 17 36552203 36552203 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 44 92 0 ENST00000577233.1:c.1728G>A p.Glu576= p.E576= ENST00000577233 NM_014598.2 576 gaG/gaA 0 -SON UCSF GRCh37 21 34923735 34923735 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 104 199 0 ENST00000356577.4:c.2198C>T p.Ser733Phe p.S733F ENST00000356577 NM_138927.2 733 tCc/tTc 0 -SON UCSF GRCh37 21 34927520 34927520 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 50 78 0 ENST00000356577.4:c.5983C>T p.Pro1995Ser p.P1995S ENST00000356577 NM_138927.2 1995 Cca/Tca 0 -SORBS1 UCSF GRCh37 10 97131152 97131152 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 59 139 0 ENST00000361941.3:c.1836G>A p.Gln612= p.Q612= ENST00000361941 NM_001034954.1 612 caG/caA 0 -SORBS2 UCSF GRCh37 4 186508806 186508806 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 19 12 42 0 ENST00000284776.7:c.3278C>T p.Pro1093Leu p.P1093L ENST00000284776 NM_021069.4 1093 cCc/cTc 0 -SOX13 UCSF GRCh37 1 204095146 204095146 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 56 96 0 ENST00000367204.1:c.1753G>A p.Glu585Lys p.E585K ENST00000367204 NM_005686.2 585 Gag/Aag 0 -SOX15 UCSF GRCh37 17 7492604 7492604 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 13 32 0 ENST00000250055.2:c.391C>T p.Pro131Ser p.P131S ENST00000250055 NM_006942.1 131 Cct/Tct 0 -SOX2 UCSF GRCh37 3 181431096 181431096 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 12 22 0 ENST00000325404.1:c.948C>T p.His316= p.H316= ENST00000325404 NM_003106.3 316 caC/caT 0 -SOX6 UCSF GRCh37 11 16362714 16362714 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 86 143 0 ENST00000528429.1:c.81G>A p.Arg27= p.R27= ENST00000528429 NM_001145819.1 27 agG/agA 0 -SOX7 UCSF GRCh37 8 10587927 10587927 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 11 24 0 ENST00000304501.1:c.17G>A p.Gly6Glu p.G6E ENST00000304501 NM_031439.3 6 gGa/gAa 0 -SP7 UCSF GRCh37 12 53722435 53722435 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 38 101 0 ENST00000303846.3:c.791G>A p.Gly264Glu p.G264E ENST00000303846 NM_152860.1 264 gGg/gAg 0 -SPAG4 UCSF GRCh37 20 34207233 34207233 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 38 101 0 ENST00000374273.3:c.909+1G>A p.X303_splice ENST00000374273 NM_003116.1 0 -SPAG5 UCSF GRCh37 17 26919902 26919902 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 115 128 226 0 ENST00000321765.5:c.360C>T p.Asp120= p.D120= ENST00000321765 NM_006461.3 120 gaC/gaT 0 -SPAG6 UCSF GRCh37 10 22653922 22653922 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 47 110 0 ENST00000376624.3:c.262C>T p.Leu88Phe p.L88F ENST00000376624 NM_012443.3 88 Ctt/Ttt 0 -SPATA18 UCSF GRCh37 4 52946055 52946055 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 109 90 210 0 ENST00000295213.4:c.1325G>A p.Gly442Glu p.G442E ENST00000295213 NM_145263.2 442 gGa/gAa 0 -SPATS2 UCSF GRCh37 12 49912891 49912891 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 35 69 0 ENST00000321898.6:c.934C>T p.Leu312Phe p.L312F ENST00000321898 312 Ctt/Ttt 0 -SPDYA UCSF GRCh37 2 29039088 29039088 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 61 125 0 ENST00000334056.5:c.208G>A p.Asp70Asn p.D70N ENST00000334056 NM_182756.3 70 Gat/Aat 0 -SPEF1 UCSF GRCh37 20 3759405 3759405 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 38 63 0 ENST00000379756.3:c.467G>A p.Gly156Glu p.G156E ENST00000379756 NM_015417.4 156 gGg/gAg 0 -SPEN UCSF GRCh37 1 16262589 16262589 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 44 82 0 ENST00000375759.3:c.9854C>T p.Pro3285Leu p.P3285L ENST00000375759 NM_015001.2 3285 cCt/cTt 0 -SPEN UCSF GRCh37 1 16254682 16254682 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 90 186 0 ENST00000375759.3:c.1947C>T p.Asp649= p.D649= ENST00000375759 NM_015001.2 649 gaC/gaT 0 -SPG11 UCSF GRCh37 15 44865887 44865887 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 46 106 0 ENST00000261866.7:c.6063G>A p.Arg2021= p.R2021= ENST00000261866 NM_025137.3 2021 cgG/cgA 0 -SPON1 UCSF GRCh37 11 14284274 14284274 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 107 215 0 ENST00000310358.7:n.2548C>T *850* ENST00000310358 0 -SPTBN5 UCSF GRCh37 15 42145961 42145961 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 23 38 0 ENST00000320955.6:c.9799G>A p.Glu3267Lys p.E3267K ENST00000320955 NM_016642.3 3267 Gag/Aag 0 -SPTBN5 UCSF GRCh37 15 42143262 42143262 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 39 76 0 ENST00000320955.6:c.10830C>T p.Ser3610= p.S3610= ENST00000320955 NM_016642.3 3610 tcC/tcT 0 -SPTLC2 UCSF GRCh37 14 78028832 78028832 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 43 88 0 ENST00000216484.2:c.757G>A p.Gly253Ser p.G253S ENST00000216484 NM_004863.3 253 Ggt/Agt 0 -SQLE UCSF GRCh37 8 126034070 126034070 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 278 86 210 0 ENST00000265896.5:c.1608G>A p.Lys536= p.K536= ENST00000265896 NM_003129.3 536 aaG/aaA 0 -SRA1 UCSF GRCh37 5 139931739 139931739 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0047 P10_Rec Untested WXS Illumina HiSeq 36 21 48 0 ENST00000336283.6:c.218C>T p.Pro73Leu p.P73L ENST00000336283 NM_001035235.3 73 cCc/cTc 0 -SRCAP UCSF GRCh37 16 30749234 30749234 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 42 111 0 ENST00000262518.4:c.7873C>T p.Pro2625Ser p.P2625S ENST00000262518 NM_006662.2 2625 Cca/Tca 0 -SRCAP UCSF GRCh37 16 30749404 30749404 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 47 100 0 ENST00000262518.4:c.8043G>A p.Lys2681= p.K2681= ENST00000262518 NM_006662.2 2681 aaG/aaA 0 -SREBF1 UCSF GRCh37 17 17722445 17722445 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 52 107 0 ENST00000261646.5:c.950C>T p.Ser317Phe p.S317F ENST00000261646 NM_004176.4 317 tCt/tTt 0 -SREBF1 UCSF GRCh37 17 17719820 17719820 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 9 18 0 ENST00000261646.5:c.1998C>T p.Ala666= p.A666= ENST00000261646 NM_004176.4 666 gcC/gcT 0 -SRP68 UCSF GRCh37 17 74053530 74053530 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 55 147 0 ENST00000307877.2:c.932G>A p.Arg311His p.R311H ENST00000307877 NM_014230.3 311 cGc/cAc 0 -SRP72 UCSF GRCh37 4 57335892 57335892 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 64 150 0 ENST00000342756.5:c.183C>T p.Phe61= p.F61= ENST00000342756 NM_006947.3 61 ttC/ttT 0 -SRRT UCSF GRCh37 7 100484763 100484763 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 84 138 0 ENST00000347433.4:c.1917C>T p.Arg639= p.R639= ENST00000347433 639 cgC/cgT 0 -SSBP2 UCSF GRCh37 5 80733256 80733256 + missense_variant Missense_Mutation SNP A A C NOVEL P10_Rec Untested WXS Illumina HiSeq 82 79 164 0 ENST00000320672.4:c.950T>G p.Ile317Ser p.I317S ENST00000320672 NM_001256732.1 317 aTt/aGt 0 -SSBP2 UCSF GRCh37 5 80809501 80809501 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 79 158 0 ENST00000320672.4:c.318C>T p.Asn106= p.N106= ENST00000320672 NM_001256732.1 106 aaC/aaT 0 -SSBP3 UCSF GRCh37 1 54704825 54704825 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 88 156 0 ENST00000371320.3:c.904C>T p.Pro302Ser p.P302S ENST00000371320 NM_145716.3 302 Ccg/Tcg 0 -SSH3 UCSF GRCh37 11 67075382 67075382 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 37 59 0 ENST00000308127.4:c.857G>A p.Ser286Asn p.S286N ENST00000308127 NM_017857.3 286 aGt/aAt 0 -SSH3 UCSF GRCh37 11 67075717 67075717 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 42 87 0 ENST00000308127.4:c.958C>T p.Leu320= p.L320= ENST00000308127 NM_017857.3 320 Ctg/Ttg 0 -SSPO UCSF GRCh37 7 149494363 149494363 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 54 126 0 ENST00000378016.2:n.6834C>T *2278* ENST00000378016 0 -SSPO UCSF GRCh37 7 149521558 149521558 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 27 47 0 ENST00000378016.2:n.13637C>T *4546* ENST00000378016 0 -SSPO UCSF GRCh37 7 149517757 149517757 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 8 16 0 ENST00000378016.2:n.12194G>A *4065* ENST00000378016 0 -SSPO UCSF GRCh37 7 149496924 149496924 + splice_region_variant,non_coding_transcript_exon_variant Splice_Region SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 38 36 70 1 ENST00000378016.2:n.6964A>G p.X2322_splice ENST00000378016 0 -SSPO UCSF GRCh37 7 149490472 149490472 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 12 25 0 ENST00000378016.2:n.5948G>A *1983* ENST00000378016 0 -ST7L UCSF GRCh37 1 113124626 113124626 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 104 228 0 ENST00000358039.4:c.1057G>A p.Ala353Thr p.A353T ENST00000358039 NM_138727.3 353 Gca/Aca 0 -STAB1 UCSF GRCh37 3 52539369 52539369 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 22 40 0 ENST00000321725.6:c.1553C>T p.Ala518Val p.A518V ENST00000321725 NM_015136.2 518 gCc/gTc 0 -STAB2 UCSF GRCh37 12 104136309 104136309 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 82 211 0 ENST00000388887.2:c.6008G>A p.Gly2003Glu p.G2003E ENST00000388887 NM_017564.9 2003 gGg/gAg 0 -STAB2 UCSF GRCh37 12 104134509 104134509 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 55 133 0 ENST00000388887.2:c.5856G>A p.Lys1952= p.K1952= ENST00000388887 NM_017564.9 1952 aaG/aaA 0 -STAB2 UCSF GRCh37 12 104144413 104144413 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 57 115 0 ENST00000388887.2:c.6495G>A p.Glu2165= p.E2165= ENST00000388887 NM_017564.9 2165 gaG/gaA 0 -STAG2 UCSF GRCh37 X 123197828 123197828 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 57 51 134 0 ENST00000371144.3:c.1952A>G p.Asp651Gly p.D651G ENST00000371144 NM_001042751.1 651 gAt/gGt 0 -STAG2 UCSF GRCh37 X 123197850 123197850 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 64 60 128 0 ENST00000371144.3:c.1974A>G p.Ile658Met p.I658M ENST00000371144 NM_001042751.1 658 atA/atG 0 -STAR UCSF GRCh37 8 38001867 38001867 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 9 26 0 ENST00000276449.4:c.782C>T p.Ser261Phe p.S261F ENST00000276449 NM_000349.2 261 tCc/tTc 0 -STAT3 UCSF GRCh37 17 40481593 40481593 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 135 109 190 0 ENST00000264657.5:c.1212C>T p.Leu404= p.L404= ENST00000264657 NM_139276.2 404 ctC/ctT 0 -STK10 UCSF GRCh37 5 171481694 171481694 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 68 105 0 ENST00000176763.5:c.2531C>T p.Ser844Phe p.S844F ENST00000176763 NM_005990.3 844 tCc/tTc 0 -STK32A UCSF GRCh37 5 146752788 146752788 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 125 96 201 0 ENST00000397936.3:c.834C>T p.Phe278= p.F278= ENST00000397936 NM_001112724.1 278 ttC/ttT 0 -STOX1 UCSF GRCh37 10 70646337 70646337 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 57 126 0 ENST00000298596.6:c.2785C>T p.His929Tyr p.H929Y ENST00000298596 NM_152709.4 929 Cac/Tac 0 -STXBP2 UCSF GRCh37 19 7707331 7707331 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 55 118 0 ENST00000221283.5:c.811C>T p.Leu271= p.L271= ENST00000221283 NM_006949.3 271 Ctg/Ttg 0 -STXBP5 UCSF GRCh37 6 147525712 147525712 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 13 33 0 ENST00000321680.6:c.44C>T p.Ala15Val p.A15V ENST00000321680 NM_001127715.2 15 gCc/gTc 0 -STXBP5L UCSF GRCh37 3 121132107 121132107 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 73 133 0 ENST00000273666.6:c.3123C>T p.Tyr1041= p.Y1041= ENST00000273666 NM_014980.2 1041 taC/taT 0 -STYK1 UCSF GRCh37 12 10772850 10772850 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 104 234 0 ENST00000075503.3:c.1162G>A p.Asp388Asn p.D388N ENST00000075503 NM_018423.2 388 Gat/Aat 0 -SUDS3 UCSF GRCh37 12 118823930 118823930 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 68 159 0 ENST00000543473.1:c.280G>A p.Glu94Lys p.E94K ENST00000543473 NM_022491.2 94 Gaa/Aaa 0 -SULT1A2 UCSF GRCh37 16 28604784 28604784 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 67 150 0 ENST00000335715.4:c.478G>A p.Glu160Lys p.E160K ENST00000335715 NM_001054.3 160 Gag/Aag 0 -SUN5 UCSF GRCh37 20 31571649 31571649 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 74 152 0 ENST00000356173.3:c.1091C>T p.Ala364Val p.A364V ENST00000356173 NM_080675.3 364 gCc/gTc 0 -SUSD1 UCSF GRCh37 9 114875083 114875083 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 107 38 137 0 ENST00000374270.3:c.952T>C p.Ser318Pro p.S318P ENST00000374270 NM_022486.3 318 Tca/Cca 0 -SV2A UCSF GRCh37 1 149878210 149878210 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 12 81 0 ENST00000369146.3:c.1877G>A p.Arg626Lys p.R626K ENST00000369146 NM_014849.4 626 aGa/aAa 0 -SVEP1 UCSF GRCh37 9 113238568 113238568 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 199 93 172 0 ENST00000374469.1:c.2446G>A p.Asp816Asn p.D816N ENST00000374469 816 Gac/Aac 0 -SVEP1 UCSF GRCh37 9 113169029 113169029 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 249 113 278 0 ENST00000374469.1:c.8782C>T p.Pro2928Ser p.P2928S ENST00000374469 2928 Cct/Tct 0 -SYCP1 UCSF GRCh37 1 115399279 115399279 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 43 100 0 ENST00000369518.1:c.193+1G>A p.X65_splice ENST00000369518 0 -SYK UCSF GRCh37 9 93607751 93607751 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 133 52 140 0 ENST00000375746.1:c.453G>A p.Lys151= p.K151= ENST00000375746 NM_001174167.1 151 aaG/aaA 0 -SYNE1 UCSF GRCh37 6 152674744 152674744 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 52 130 0 ENST00000367255.5:c.11062G>A p.Ala3688Thr p.A3688T ENST00000367255 NM_182961.3 3688 Gcc/Acc 0 -SYNE1 UCSF GRCh37 6 152605293 152605293 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 45 88 0 ENST00000367255.5:c.18027G>A p.Glu6009= p.E6009= ENST00000367255 NM_182961.3 6009 gaG/gaA 0 -SYNE1 UCSF GRCh37 6 152694193 152694193 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 141 140 228 0 ENST00000367255.5:c.9486C>T p.His3162= p.H3162= ENST00000367255 NM_182961.3 3162 caC/caT 0 -SYNE2 UCSF GRCh37 14 64460688 64460688 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 75 124 0 ENST00000344113.4:c.2781+1G>A p.X927_splice ENST00000344113 NM_015180.4 0 -SYNJ1 UCSF GRCh37 21 34060638 34060638 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 22 65 0 ENST00000433931.2:c.946G>A p.Ala316Thr p.A316T ENST00000433931 NM_003895.3 316 Gcc/Acc 0 -SYNPO UCSF GRCh37 5 149997948 149997948 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 5 9 25 0 ENST00000394243.1:c.19C>T p.Pro7Ser p.P7S ENST00000394243 NM_001166208.1 7 Cca/Tca 0 -SYNPO2 UCSF GRCh37 4 119952515 119952515 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 86 155 0 ENST00000429713.2:c.2585C>T p.Ser862Phe p.S862F ENST00000429713 NM_001128933.1 862 tCc/tTc 0 -SYNPO2L UCSF GRCh37 10 75407132 75407132 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 66 111 0 ENST00000394810.2:c.2278G>A p.Glu760Lys p.E760K ENST00000394810 NM_001114133.1 760 Gag/Aag 0 -SYNRG UCSF GRCh37 17 35913924 35913924 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 84 173 0 ENST00000339208.6:c.1901C>T p.Ser634Leu p.S634L ENST00000339208 NM_001163544.1 634 tCa/tTa 0 -SYNRG UCSF GRCh37 17 35930963 35930963 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 119 83 205 0 ENST00000339208.6:c.1120C>T p.Pro374Ser p.P374S ENST00000339208 NM_001163544.1 374 Cct/Tct 0 -SYT10 UCSF GRCh37 12 33532825 33532825 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 71 175 0 ENST00000228567.3:c.1442G>A p.Trp481Ter p.W481* ENST00000228567 NM_198992.3 481 tGg/tAg 0 -SZT2 UCSF GRCh37 1 43897534 43897534 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 45 120 0 ENST00000562955.1:c.5065G>A p.Val1689Ile p.V1689I ENST00000562955 NM_015284.3 1689 Gta/Ata 0 -TAAR5 UCSF GRCh37 6 132910054 132910054 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 74 122 0 ENST00000258034.2:c.772G>A p.Val258Met p.V258M ENST00000258034 NM_003967.2 258 Gtg/Atg 0 -TACC3 UCSF GRCh37 4 1730443 1730443 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 40 66 0 ENST00000313288.4:c.1314G>A p.Arg438= p.R438= ENST00000313288 NM_006342.2 438 agG/agA 0 -TACR1 UCSF GRCh37 2 75425842 75425842 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 82 156 0 ENST00000305249.5:c.219C>T p.Asn73= p.N73= ENST00000305249 NM_001058.3 73 aaC/aaT 0 -TACR2 UCSF GRCh37 10 71176015 71176015 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 52 94 0 ENST00000373306.4:c.65G>A p.Gly22Asp p.G22D ENST00000373306 NM_001057.2 22 gGc/gAc 0 -TAF1L UCSF GRCh37 9 32633141 32633141 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 120 113 215 1 ENST00000242310.4:c.2437C>T p.Pro813Ser p.P813S ENST00000242310 NM_153809.2 813 Cct/Tct 0 -TAF3 UCSF GRCh37 10 8007315 8007315 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 156 82 170 0 ENST00000344293.5:c.1842G>A p.Glu614= p.E614= ENST00000344293 NM_031923.3 614 gaG/gaA 0 -TAF5 UCSF GRCh37 10 105145228 105145228 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 46 108 0 ENST00000369839.3:c.1810G>A p.Gly604Ser p.G604S ENST00000369839 NM_006951.3 604 Ggc/Agc 0 -TAGLN2 UCSF GRCh37 1 159889463 159889463 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 73 161 0 ENST00000320307.4:c.343G>A p.Asp115Asn p.D115N ENST00000320307 NM_001277223.1 115 Gac/Aac 0 -TANC2 UCSF GRCh37 17 61489480 61489480 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0011 P10_Rec Untested WXS Illumina HiSeq 67 64 136 0 ENST00000424789.2:c.3665G>A p.Gly1222Glu p.G1222E ENST00000424789 NM_025185.3 1222 gGa/gAa 0 -TAPBP UCSF GRCh37 6 33281012 33281012 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 57 148 0 ENST00000426633.2:c.451C>T p.Leu151Phe p.L151F ENST00000426633 NM_172208.2 151 Ctc/Ttc 0 -TARSL2 UCSF GRCh37 15 102242566 102242566 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 94 179 0 ENST00000335968.3:c.1097G>A p.Gly366Asp p.G366D ENST00000335968 NM_152334.2 366 gGc/gAc 0 -TAS1R2 UCSF GRCh37 1 19186128 19186128 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 57 131 0 ENST00000375371.3:c.27C>T p.Ser9= p.S9= ENST00000375371 NM_152232.2 9 tcC/tcT 0 -TAS2R4 UCSF GRCh37 7 141479030 141479030 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 101 87 180 0 ENST00000247881.2:c.742G>A p.Val248Ile p.V248I ENST00000247881 NM_016944.1 248 Gtc/Atc 0 -TATDN2 UCSF GRCh37 3 10302232 10302232 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 88 166 0 ENST00000287652.4:c.826G>A p.Val276Ile p.V276I ENST00000287652 NM_014760.3 276 Gtt/Att 0 -TBC1D1 UCSF GRCh37 4 38134843 38134843 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 84 160 0 ENST00000261439.4:c.3271C>T p.Arg1091Cys p.R1091C ENST00000261439 NM_015173.3 1091 Cgc/Tgc 0 -TBC1D19 UCSF GRCh37 4 26737084 26737084 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 15 38 0 ENST00000264866.4:c.1092C>T p.Ile364= p.I364= ENST00000264866 NM_018317.2 364 atC/atT 0 -TBC1D24 UCSF GRCh37 16 2548319 2548319 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 16 13 34 0 ENST00000293970.5:c.1064C>T p.Ser355Phe p.S355F ENST00000293970 NM_001199107.1 355 tCc/tTc 0 -TBCEL UCSF GRCh37 11 120925837 120925837 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 75 155 0 ENST00000422003.2:c.532C>T p.Leu178= p.L178= ENST00000422003 NM_152715.3 178 Cta/Tta 0 -TBL1XR1 UCSF GRCh37 3 176763952 176763952 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 28 89 0 ENST00000430069.1:c.890C>T p.Thr297Ile p.T297I ENST00000430069 297 aCt/aTt 0 -TBX2 UCSF GRCh37 17 59485626 59485626 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 32 57 0 ENST00000240328.3:c.1898G>A p.Ser633Asn p.S633N ENST00000240328 NM_005994.3 633 aGc/aAc 0 -TBX4 UCSF GRCh37 17 59560522 59560522 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 71 119 0 ENST00000240335.1:c.1283G>A p.Ser428Asn p.S428N ENST00000240335 NM_018488.2 428 aGc/aAc 0 -TBXAS1 UCSF GRCh37 7 139661920 139661920 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 67 130 0 ENST00000336425.5:c.1022C>T p.Ala341Val p.A341V ENST00000336425 341 gCt/gTt 0 -TC2N UCSF GRCh37 14 92264214 92264214 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 54 134 0 ENST00000340892.5:c.770G>A p.Gly257Glu p.G257E ENST00000340892 NM_152332.4 257 gGa/gAa 0 -TCEB3 UCSF GRCh37 1 24077927 24077927 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 71 137 0 ENST00000418390.2:c.910G>A p.Glu304Lys p.E304K ENST00000418390 NM_003198.2 304 Gag/Aag 0 -TCF23 UCSF GRCh37 2 27375694 27375694 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 72 152 0 ENST00000296096.5:c.604C>T p.Leu202Phe p.L202F ENST00000296096 NM_175769.2 202 Ctt/Ttt 0 -TCTN3 UCSF GRCh37 10 97447086 97447086 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 42 90 0 ENST00000371217.5:c.654C>T p.Phe218= p.F218= ENST00000371217 218 ttC/ttT 0 -TCTN3 UCSF GRCh37 10 97453525 97453525 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 12 27 0 ENST00000371217.5:c.132C>T p.Gly44= p.G44= ENST00000371217 44 ggC/ggT 0 -TDRD1 UCSF GRCh37 10 115963291 115963291 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 84 178 0 ENST00000251864.2:c.946G>A p.Gly316Arg p.G316R ENST00000251864 NM_198795.1 316 Ggg/Agg 0 -TDRD5 UCSF GRCh37 1 179620034 179620034 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 81 223 0 ENST00000294848.8:c.1833C>T p.Phe611= p.F611= ENST00000294848 NM_173533.3 611 ttC/ttT 0 -TDRD7 UCSF GRCh37 9 100235884 100235884 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 126 73 178 0 ENST00000355295.4:c.2055G>A p.Lys685= p.K685= ENST00000355295 NM_014290.2 685 aaG/aaA 0 -TDRD9 UCSF GRCh37 14 104431696 104431696 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 57 155 1 ENST00000409874.4:c.447C>T p.Ser149= p.S149= ENST00000409874 NM_153046.2 149 tcC/tcT 0 -TDRD9 UCSF GRCh37 14 104465049 104465049 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 119 216 0 ENST00000409874.4:c.1467C>T p.Ser489= p.S489= ENST00000409874 NM_153046.2 489 agC/agT 0 -TECPR2 UCSF GRCh37 14 102900784 102900784 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 64 160 0 ENST00000359520.7:c.1630C>T p.Pro544Ser p.P544S ENST00000359520 NM_014844.3 544 Ccc/Tcc 0 -TECPR2 UCSF GRCh37 14 102916172 102916172 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 46 130 1 ENST00000359520.7:c.3282G>A p.Lys1094= p.K1094= ENST00000359520 NM_014844.3 1094 aaG/aaA 0 -TEF UCSF GRCh37 22 41783452 41783452 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 4 69 102 0 ENST00000266304.4:c.255G>A p.Lys85= p.K85= ENST00000266304 NM_003216.3 85 aaG/aaA 0 -TENC1 UCSF GRCh37 12 53453352 53453352 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 34 54 0 ENST00000314250.6:c.1927C>T p.Leu643Phe p.L643F ENST00000314250 NM_170754.2 643 Ctc/Ttc 0 -TENC1 UCSF GRCh37 12 53453006 53453006 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 28 33 0 ENST00000314250.6:c.1581C>T p.Ser527= p.S527= ENST00000314250 NM_170754.2 527 tcC/tcT 0 -TEP1 UCSF GRCh37 14 20851479 20851479 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 31 42 65 0 ENST00000262715.5:c.3901G>A p.Ala1301Thr p.A1301T ENST00000262715 NM_007110.4 1301 Gca/Aca 0 -TERF1 UCSF GRCh37 8 73921345 73921345 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 18 45 0 ENST00000276603.5:c.224C>T p.Ala75Val p.A75V ENST00000276603 NM_017489.2 75 gCc/gTc 0 -TET2 UCSF GRCh37 4 106190870 106190870 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 55 51 114 0 ENST00000380013.4:c.4148G>A p.Arg1383Lys p.R1383K ENST00000380013 NM_001127208.2 1383 aGa/aAa 0 -TET3 UCSF GRCh37 2 74274381 74274381 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 44 119 0 ENST00000409262.3:c.932C>T p.Pro311Leu p.P311L ENST00000409262 NM_144993.1 311 cCc/cTc 0 -TEX10 UCSF GRCh37 9 103109180 103109180 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 195 100 191 0 ENST00000374902.4:c.689G>A p.Arg230Lys p.R230K ENST00000374902 NM_017746.3 230 aGa/aAa 0 -TEX15 UCSF GRCh37 8 30705592 30705592 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 50 149 0 ENST00000256246.2:c.942C>T p.Thr314= p.T314= ENST00000256246 NM_031271.3 314 acC/acT 0 -TEX15 UCSF GRCh37 8 30706429 30706429 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 105 97 202 0 ENST00000256246.2:c.105C>T p.Asn35= p.N35= ENST00000256246 NM_031271.3 35 aaC/aaT 0 -TFE3 UCSF GRCh37 X 48895560 48895560 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 12 40 0 ENST00000315869.7:c.860C>T p.Thr287Ile p.T287I ENST00000315869 NM_006521.4 287 aCc/aTc 0 -TFEB UCSF GRCh37 6 41653940 41653940 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 74 133 0 ENST00000230323.4:c.839C>T p.Ala280Val p.A280V ENST00000230323 NM_007162.2 280 gCc/gTc 0 -TG UCSF GRCh37 8 134144104 134144104 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 204 73 119 0 ENST00000220616.4:c.7911C>T p.Tyr2637= p.Y2637= ENST00000220616 NM_003235.4 2637 taC/taT 0 -TG UCSF GRCh37 8 133919027 133919027 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 133 38 61 0 ENST00000220616.4:c.3729G>A p.Gln1243= p.Q1243= ENST00000220616 NM_003235.4 1243 caG/caA 0 -TGFA UCSF GRCh37 2 70683575 70683575 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 11 26 0 ENST00000295400.6:c.261C>T p.Leu87= p.L87= ENST00000295400 NM_001099691.2 87 ctC/ctT 0 -TGFB1 UCSF GRCh37 19 41854289 41854289 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 84 165 0 ENST00000221930.5:c.427G>A p.Ala143Thr p.A143T ENST00000221930 NM_000660.4 143 Gcg/Acg 0 -TGFBR3 UCSF GRCh37 1 92262859 92262859 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 78 187 0 ENST00000212355.4:c.231C>T p.Gly77= p.G77= ENST00000212355 NM_001195683.1 77 ggC/ggT 0 -TGIF2LX UCSF GRCh37 X 89177490 89177490 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 67 152 0 ENST00000283891.5:c.406C>T p.Gln136Ter p.Q136* ENST00000283891 NM_138960.3 136 Cag/Tag 0 -TGM3 UCSF GRCh37 20 2290834 2290834 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 75 184 0 ENST00000381458.5:c.192C>T p.Pro64= p.P64= ENST00000381458 NM_003245.3 64 ccC/ccT 0 -THADA UCSF GRCh37 2 43655362 43655362 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 82 186 1 ENST00000405006.4:c.3935G>A p.Gly1312Glu p.G1312E ENST00000405006 NM_001083953.1 1312 gGa/gAa 0 -THBS2 UCSF GRCh37 6 169637393 169637393 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 32 81 0 ENST00000366787.3:c.1349C>T p.Ser450Phe p.S450F ENST00000366787 NM_003247.2 450 tCt/tTt 0 -THEG UCSF GRCh37 19 375960 375960 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 31 51 0 ENST00000342640.4:c.11G>A p.Ser4Asn p.S4N ENST00000342640 NM_016585.4 4 aGc/aAc 0 -THOC2 UCSF GRCh37 X 122759802 122759802 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 66 164 0 ENST00000245838.8:c.3018G>A p.Gln1006= p.Q1006= ENST00000245838 NM_001081550.1 1006 caG/caA 0 -THSD7A UCSF GRCh37 7 11468604 11468604 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 136 127 204 0 ENST00000423059.4:c.3213G>A p.Arg1071= p.R1071= ENST00000423059 NM_015204.2 1071 agG/agA 0 -THSD7B UCSF GRCh37 2 138169344 138169344 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 149 129 247 0 ENST00000272643.3:c.2861C>T p.Ala954Val p.A954V ENST00000272643 954 gCa/gTa 0 -THUMPD1 UCSF GRCh37 16 20750362 20750362 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 78 146 0 ENST00000381337.2:c.263G>A p.Ser88Asn p.S88N ENST00000381337 NM_017736.3 88 aGt/aAt 0 -TIA1 UCSF GRCh37 2 70443408 70443408 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 26 51 0 ENST00000433529.2:c.696G>A p.Gln232= p.Q232= ENST00000433529 NM_022173.2 232 caG/caA 0 -TIAM1 UCSF GRCh37 21 32525434 32525434 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 67 173 0 ENST00000286827.3:c.3190G>A p.Glu1064Lys p.E1064K ENST00000286827 NM_003253.2 1064 Gag/Aag 0 -TIGD5 UCSF GRCh37 8 144680339 144680339 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 4 9 0 ENST00000321385.3:c.119G>A p.Arg40His p.R40H ENST00000321385 40 cGc/cAc 0 -TIMELESS UCSF GRCh37 12 56826196 56826196 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 75 153 0 ENST00000553532.1:c.644G>A p.Ser215Asn p.S215N ENST00000553532 215 aGc/aAc 0 -TIMELESS UCSF GRCh37 12 56811993 56811993 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 124 94 182 0 ENST00000553532.1:c.3379A>G p.Lys1127Glu p.K1127E ENST00000553532 1127 Aaa/Gaa 0 -TJP2 UCSF GRCh37 9 71869199 71869199 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 154 80 138 0 ENST00000377245.4:c.3482C>T p.Ala1161Val p.A1161V ENST00000377245 NM_004817.3 1161 gCc/gTc 0 -TJP2 UCSF GRCh37 9 71849405 71849405 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 45 137 0 ENST00000377245.4:c.1722C>T p.Tyr574= p.Y574= ENST00000377245 NM_004817.3 574 taC/taT 0 -TKTL2 UCSF GRCh37 4 164393404 164393404 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 78 159 0 ENST00000280605.3:c.1483C>T p.Gln495Ter p.Q495* ENST00000280605 NM_032136.4 495 Cag/Tag 0 -TLK1 UCSF GRCh37 2 171884884 171884884 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 45 123 0 ENST00000431350.2:c.1201G>A p.Glu401Lys p.E401K ENST00000431350 401 Gaa/Aaa 0 -TLK1 UCSF GRCh37 2 171871453 171871453 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 78 188 0 ENST00000431350.2:c.1242G>A p.Glu414= p.E414= ENST00000431350 414 gaG/gaA 0 -TLL1 UCSF GRCh37 4 166981289 166981289 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 40 146 0 ENST00000061240.2:c.1956C>T p.Thr652= p.T652= ENST00000061240 NM_012464.4 652 acC/acT 0 -TLL2 UCSF GRCh37 10 98157046 98157046 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0015 P10_Rec Untested WXS Illumina HiSeq 54 43 81 0 ENST00000357947.3:c.1281C>T p.Gly427= p.G427= ENST00000357947 NM_012465.3 427 ggC/ggT 0 -TLN1 UCSF GRCh37 9 35725306 35725306 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 41 77 0 ENST00000314888.9:c.143G>A p.Gly48Glu p.G48E ENST00000314888 NM_006289.3 48 gGg/gAg 0 -TLN2 UCSF GRCh37 15 63008649 63008649 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 37 91 0 ENST00000306829.6:c.2754C>T p.Asn918= p.N918= ENST00000306829 NM_015059.2 918 aaC/aaT 0 -TLN2 UCSF GRCh37 15 63088326 63088326 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 40 98 0 ENST00000306829.6:c.5884G>A p.Val1962Ile p.V1962I ENST00000306829 NM_015059.2 1962 Gtc/Atc 0 -TM7SF3 UCSF GRCh37 12 27148236 27148236 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 65 135 0 ENST00000343028.4:c.624G>A p.Glu208= p.E208= ENST00000343028 NM_016551.2 208 gaG/gaA 0 -TMC2 UCSF GRCh37 20 2593935 2593935 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 51 120 0 ENST00000358864.1:c.1839C>T p.Asn613= p.N613= ENST00000358864 NM_080751.2 613 aaC/aaT 0 -TMC6 UCSF GRCh37 17 76118775 76118775 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 15 41 0 ENST00000322914.3:c.1138G>A p.Ala380Thr p.A380T ENST00000322914 NM_007267.6 380 Gcc/Acc 0 -TMC6 UCSF GRCh37 17 76116781 76116781 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 125 88 193 0 ENST00000322914.3:c.1668C>T p.Asp556= p.D556= ENST00000322914 NM_007267.6 556 gaC/gaT 0 -TMEM121 UCSF GRCh37 14 105995323 105995323 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 13 14 0 ENST00000392519.2:c.152G>A p.Cys51Tyr p.C51Y ENST00000392519 NM_025268.2 51 tGc/tAc 0 -TMEM131 UCSF GRCh37 2 98408904 98408904 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 17 40 0 ENST00000186436.5:c.4089C>T p.Ser1363= p.S1363= ENST00000186436 NM_015348.1 1363 tcC/tcT 0 -TMEM132C UCSF GRCh37 12 129190605 129190605 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 18 23 32 0 ENST00000435159.2:c.3092C>T p.Ser1031Phe p.S1031F ENST00000435159 NM_001136103.2 1031 tCc/tTc 0 -TMEM139 UCSF GRCh37 7 142983697 142983697 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 91 163 0 ENST00000359333.3:c.426G>A p.Arg142= p.R142= ENST00000359333 NM_001282876.1 142 agG/agA 0 -TMEM156 UCSF GRCh37 4 38995377 38995377 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 101 90 184 0 ENST00000381938.3:c.600C>T p.His200= p.H200= ENST00000381938 NM_024943.1 200 caC/caT 0 -TMEM201 UCSF GRCh37 1 9661350 9661350 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 50 84 0 ENST00000340381.6:c.794C>T p.Thr265Ile p.T265I ENST00000340381 NM_001130924.2 265 aCc/aTc 0 -TMEM205 UCSF GRCh37 19 11453739 11453739 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 37 71 0 ENST00000354882.5:c.322C>T p.Pro108Ser p.P108S ENST00000354882 108 Ccc/Tcc 0 -TMEM214 UCSF GRCh37 2 27261943 27261943 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 38 90 0 ENST00000238788.9:c.1436G>A p.Arg479Gln p.R479Q ENST00000238788 NM_017727.4 479 cGg/cAg 0 -TMEM232 UCSF GRCh37 5 109963542 109963542 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 37 84 0 ENST00000455884.2:c.541C>T p.Leu181= p.L181= ENST00000455884 181 Ctg/Ttg 0 -TMEM234 UCSF GRCh37 1 32682944 32682944 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 56 100 0 ENST00000344461.3:c.244C>T p.Leu82= p.L82= ENST00000344461 82 Ctg/Ttg 0 -TMEM237 UCSF GRCh37 2 202496808 202496808 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 126 97 216 0 ENST00000409883.2:c.519C>T p.Ser173= p.S173= ENST00000409883 NM_001044385.2 173 agC/agT 0 -TMEM38A UCSF GRCh37 19 16772124 16772124 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 10 10 0 ENST00000187762.2:c.96C>T p.Val32= p.V32= ENST00000187762 NM_024074.1 32 gtC/gtT 0 -TMEM47 UCSF GRCh37 X 34657462 34657462 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 44 77 0 ENST00000275954.3:c.269C>T p.Ala90Val p.A90V ENST00000275954 NM_031442.3 90 gCc/gTc 0 -TMEM59L UCSF GRCh37 19 18728993 18728993 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 27 96 0 ENST00000262817.3:c.693G>A p.Arg231= p.R231= ENST00000262817 NM_012109.2 231 agG/agA 0 -TMEM74 UCSF GRCh37 8 109796546 109796546 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 187 70 134 0 ENST00000297459.3:c.782G>A p.Arg261His p.R261H ENST00000297459 NM_153015.1 261 cGt/cAt 0 -TMPRSS15 UCSF GRCh37 21 19713814 19713814 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 79 177 0 ENST00000284885.3:c.1480G>A p.Asp494Asn p.D494N ENST00000284885 NM_002772.2 494 Gac/Aac 0 -TMTC3 UCSF GRCh37 12 88582692 88582692 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 58 128 0 ENST00000266712.6:c.1505C>T p.Ser502Phe p.S502F ENST00000266712 NM_181783.3 502 tCt/tTt 0 -TMUB1 UCSF GRCh37 7 150778822 150778822 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 9 15 0 ENST00000297533.4:c.555G>A p.Gly185= p.G185= ENST00000297533 NM_001136044.1 185 ggG/ggA 0 -TNC UCSF GRCh37 9 117808778 117808778 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 231 96 219 0 ENST00000350763.4:c.5036G>A p.Gly1679Asp p.G1679D ENST00000350763 NM_002160.3 1679 gGt/gAt 0 -TNC UCSF GRCh37 9 117826119 117826119 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 151 65 159 0 ENST00000350763.4:c.3716C>T p.Thr1239Ile p.T1239I ENST00000350763 NM_002160.3 1239 aCt/aTt 0 -TNC UCSF GRCh37 9 117848837 117848837 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 163 74 124 0 ENST00000350763.4:c.1173G>A p.Arg391= p.R391= ENST00000350763 NM_002160.3 391 cgG/cgA 0 -TNFRSF11A UCSF GRCh37 18 60036604 60036604 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 53 49 98 0 ENST00000586569.1:c.1454G>A p.Ser485Asn p.S485N ENST00000586569 NM_001278268.1 485 aGc/aAc 0 -TNFRSF11B UCSF GRCh37 8 119945463 119945463 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 292 79 206 0 ENST00000297350.4:c.107C>T p.Ser36Phe p.S36F ENST00000297350 NM_002546.3 36 tCt/tTt 0 -TNFRSF1B UCSF GRCh37 1 12266822 12266822 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 43 93 0 ENST00000376259.3:c.1131C>T p.Thr377= p.T377= ENST00000376259 NM_001066.2 377 acC/acT 0 -TNIP1 UCSF GRCh37 5 150443200 150443200 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 57 111 0 ENST00000315050.7:c.245C>T p.Ser82Phe p.S82F ENST00000315050 NM_001252391.1 82 tCc/tTc 0 -TNK1 UCSF GRCh37 17 7286633 7286633 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 85 169 0 ENST00000576812.1:c.228C>T p.Val76= p.V76= ENST00000576812 NM_001251902.1 76 gtC/gtT 0 -TNK2 UCSF GRCh37 3 195594767 195594767 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 9 17 0 ENST00000333602.6:c.2357C>T p.Pro786Leu p.P786L ENST00000333602 NM_005781.4 786 cCt/cTt 0 -TNKS1BP1 UCSF GRCh37 11 57069696 57069696 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 41 64 0 ENST00000358252.3:c.4686C>T p.Asp1562= p.D1562= ENST00000358252 NM_033396.2 1562 gaC/gaT 0 -TNNT2 UCSF GRCh37 1 201331124 201331124 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 64 152 0 ENST00000236918.7:c.621G>A p.Gln207= p.Q207= ENST00000236918 207 caG/caA 0 -TNRC6A UCSF GRCh37 16 24788512 24788512 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 91 166 0 ENST00000395799.3:c.422G>A p.Arg141His p.R141H ENST00000395799 NM_014494.2 141 cGc/cAc 0 -TNRC6A UCSF GRCh37 16 24802403 24802403 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 38 122 0 ENST00000395799.3:c.2440G>A p.Val814Ile p.V814I ENST00000395799 NM_014494.2 814 Gtc/Atc 0 -TNS4 UCSF GRCh37 17 38636093 38636093 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 29 33 0 ENST00000254051.6:c.1743C>T p.Gly581= p.G581= ENST00000254051 NM_032865.5 581 ggC/ggT 0 -TOP3A UCSF GRCh37 17 18208448 18208448 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 62 126 0 ENST00000321105.5:c.477G>A p.Glu159= p.E159= ENST00000321105 NM_004618.3 159 gaG/gaA 0 -TOPBP1 UCSF GRCh37 3 133320145 133320145 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 59 139 0 ENST00000260810.5:c.4518G>A p.Lys1506= p.K1506= ENST00000260810 NM_007027.3 1506 aaG/aaA 0 -TOR2A UCSF GRCh37 9 130495707 130495707 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 49 94 0 ENST00000373284.5:c.550G>A p.Val184Ile p.V184I ENST00000373284 NM_001085347.2 184 Gta/Ata 0 -TOX UCSF GRCh37 8 59728200 59728200 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 44 106 0 ENST00000361421.1:c.1089C>T p.Ser363= p.S363= ENST00000361421 NM_014729.2 363 agC/agT 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 1 82 83 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TP53BP1 UCSF GRCh37 15 43769868 43769868 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 68 171 0 ENST00000263801.3:c.863G>A p.Gly288Glu p.G288E ENST00000263801 NM_005657.2 288 gGa/gAa 0 -TP53BP2 UCSF GRCh37 1 223983936 223983936 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 91 150 0 ENST00000343537.7:c.2305G>A p.Glu769Lys p.E769K ENST00000343537 NM_001031685.2 769 Gag/Aag 0 -TP63 UCSF GRCh37 3 189455553 189455553 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 65 166 0 ENST00000264731.3:c.87C>T p.Phe29= p.F29= ENST00000264731 NM_003722.4 29 ttC/ttT 0 -TP73 UCSF GRCh37 1 3645890 3645890 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 35 57 0 ENST00000378295.4:c.1075-1G>A p.X359_splice ENST00000378295 NM_005427.3 0 -TPCN2 UCSF GRCh37 11 68840393 68840393 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 39 86 0 ENST00000294309.3:c.1154C>T p.Ser385Phe p.S385F ENST00000294309 NM_139075.3 385 tCc/tTc 0 -TPRN UCSF GRCh37 9 140086761 140086761 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0039 P10_Rec Untested WXS Illumina HiSeq 74 26 61 0 ENST00000409012.4:c.2023G>A p.Ala675Thr p.A675T ENST00000409012 NM_001128228.2 675 Gcg/Acg 0 -TPRN UCSF GRCh37 9 140087087 140087087 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 43 95 0 ENST00000409012.4:c.1782G>A p.Glu594= p.E594= ENST00000409012 NM_001128228.2 594 gaG/gaA 0 -TRABD UCSF GRCh37 22 50635990 50635990 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 46 76 0 ENST00000303434.4:c.644G>A p.Gly215Asp p.G215D ENST00000303434 NM_025204.2 215 gGc/gAc 0 -TRAF3IP3 UCSF GRCh37 1 209933650 209933650 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 25 39 0 ENST00000367024.1:c.266C>T p.Pro89Leu p.P89L ENST00000367024 89 cCc/cTc 0 -TRANK1 UCSF GRCh37 3 36873744 36873744 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 19 137 200 0 ENST00000429976.2:c.7198C>T p.Pro2400Ser p.P2400S ENST00000429976 2400 Cca/Tca 0 -TRAPPC6B UCSF GRCh37 14 39628700 39628700 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 43 134 0 ENST00000330149.5:c.136G>A p.Gly46Arg p.G46R ENST00000330149 NM_001079537.1 46 Gga/Aga 0 -TRAPPC9 UCSF GRCh37 8 141461167 141461167 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 294 71 138 0 ENST00000438773.2:c.306G>A p.Gln102= p.Q102= ENST00000438773 NM_001160372.1 102 caG/caA 0 -TRDMT1 UCSF GRCh37 10 17195563 17195563 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 52 114 0 ENST00000377799.3:c.1018C>T p.Leu340= p.L340= ENST00000377799 NM_004412.5 340 Ctg/Ttg 0 -TREM1 UCSF GRCh37 6 41248854 41248854 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 42 114 0 ENST00000244709.4:c.444C>T p.Thr148= p.T148= ENST00000244709 NM_018643.3 148 acC/acT 0 -TREM2 UCSF GRCh37 6 41127546 41127546 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 25 83 0 ENST00000373113.3:c.466G>A p.Glu156Lys p.E156K ENST00000373113 NM_018965.3 156 Gag/Aag 0 -TREML1 UCSF GRCh37 6 41117489 41117489 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 80 135 0 ENST00000426005.2:c.789C>T p.Ser263= p.S263= ENST00000426005 NM_178174.3 263 tcC/tcT 0 -TRHDE UCSF GRCh37 12 72667167 72667167 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 45 87 0 ENST00000261180.4:c.609C>T p.Val203= p.V203= ENST00000261180 NM_013381.2 203 gtC/gtT 0 -TRIM15 UCSF GRCh37 6 30131780 30131780 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 35 81 0 ENST00000376694.4:c.319G>A p.Glu107Lys p.E107K ENST00000376694 NM_033229.2 107 Gag/Aag 0 -TRIM16L UCSF GRCh37 17 18630996 18630996 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 80 161 0 ENST00000395671.4:c.126G>A p.Arg42= p.R42= ENST00000395671 NM_001037330.1 42 agG/agA 0 -TRIM33 UCSF GRCh37 1 114952805 114952805 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 70 142 0 ENST00000358465.2:c.2194+1G>A p.X732_splice ENST00000358465 NM_015906.3 0 -TRIM42 UCSF GRCh37 3 140407071 140407071 + missense_variant Missense_Mutation SNP T T G NOVEL P10_Rec Untested WXS Illumina HiSeq 85 65 156 0 ENST00000286349.3:c.1547T>G p.Ile516Ser p.I516S ENST00000286349 NM_152616.4 516 aTt/aGt 0 -TRIM50 UCSF GRCh37 7 72727137 72727137 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 9 14 0 ENST00000333149.2:c.1244G>A p.Gly415Glu p.G415E ENST00000333149 NM_001281450.1 415 gGg/gAg 0 -TRIM55 UCSF GRCh37 8 67040642 67040642 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 65 174 0 ENST00000315962.4:c.272G>A p.Gly91Glu p.G91E ENST00000315962 NM_184085.1 91 gGg/gAg 0 -TRIM7 UCSF GRCh37 5 180622331 180622331 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 16 31 0 ENST00000274773.7:c.1371C>T p.His457= p.H457= ENST00000274773 NM_203293.2 457 caC/caT 0 -TRIML1 UCSF GRCh37 4 189060893 189060893 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 79 154 0 ENST00000332517.3:c.181G>A p.Glu61Lys p.E61K ENST00000332517 NM_178556.3 61 Gag/Aag 0 -TRIOBP UCSF GRCh37 22 38106452 38106452 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 26 35 0 ENST00000406386.3:c.133G>A p.Gly45Ser p.G45S ENST00000406386 NM_001039141.2 45 Ggt/Agt 0 -TRIOBP UCSF GRCh37 22 38119897 38119897 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 97 201 0 ENST00000406386.3:c.1334G>A p.Arg445Lys p.R445K ENST00000406386 NM_001039141.2 445 aGa/aAa 0 -TRMT11 UCSF GRCh37 6 126319699 126319699 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 54 134 0 ENST00000334379.5:c.391C>T p.Leu131Phe p.L131F ENST00000334379 NM_001031712.2 131 Ctt/Ttt 0 -TRNAU1AP UCSF GRCh37 1 28891228 28891228 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 82 182 0 ENST00000373830.3:c.292C>T p.Leu98Phe p.L98F ENST00000373830 NM_017846.4 98 Ctc/Ttc 0 -TRO UCSF GRCh37 X 54949889 54949889 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 26 48 0 ENST00000173898.7:c.924G>A p.Arg308= p.R308= ENST00000173898 NM_001039705.2 308 agG/agA 0 -TRPC3 UCSF GRCh37 4 122803559 122803559 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 20 124 0 ENST00000379645.3:c.2573G>A p.Arg858Gln p.R858Q ENST00000379645 NM_001130698.1 858 cGg/cAg 0 -TRPC5 UCSF GRCh37 X 111195523 111195523 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 65 151 0 ENST00000262839.2:c.126G>A p.Lys42= p.K42= ENST00000262839 NM_012471.2 42 aaG/aaA 0 -TRPM2 UCSF GRCh37 21 45784113 45784113 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 61 145 0 ENST00000300482.5:c.371C>T p.Thr124Ile p.T124I ENST00000300482 124 aCc/aTc 0 -TRPM2 UCSF GRCh37 21 45826605 45826605 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 10 22 0 ENST00000300482.5:c.2919C>T p.His973= p.H973= ENST00000300482 973 caC/caT 0 -TRPM2 UCSF GRCh37 21 45825063 45825063 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 57 123 0 ENST00000300482.5:c.2577G>A p.Lys859= p.K859= ENST00000300482 859 aaG/aaA 0 -TRPM3 UCSF GRCh37 9 73150932 73150932 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 232 116 188 0 ENST00000377110.3:c.5061C>T p.Ser1687= p.S1687= ENST00000377110 1687 agC/agT 0 -TRPM3 UCSF GRCh37 9 73167824 73167824 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 192 94 200 0 ENST00000377110.3:c.3474C>T p.Phe1158= p.F1158= ENST00000377110 1158 ttC/ttT 0 -TRPM4 UCSF GRCh37 19 49714491 49714491 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 14 10 0 ENST00000252826.5:c.3605G>A p.Gly1202Asp p.G1202D ENST00000252826 NM_017636.3 1202 gGt/gAt 0 -TRPM4 UCSF GRCh37 19 49675322 49675322 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 52 128 0 ENST00000252826.5:c.1107G>A p.Gly369= p.G369= ENST00000252826 NM_017636.3 369 ggG/ggA 0 -TRPM6 UCSF GRCh37 9 77353524 77353524 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 54 119 0 ENST00000360774.1:c.5575C>T p.Leu1859= p.L1859= ENST00000360774 NM_017662.4 1859 Ctg/Ttg 0 -TRPS1 UCSF GRCh37 8 116426543 116426543 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 157 55 131 0 ENST00000220888.5:c.3554C>T p.Thr1185Met p.T1185M ENST00000220888 1185 aCg/aTg 0 -TRPV6 UCSF GRCh37 7 142572668 142572668 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 73 133 0 ENST00000359396.3:c.1275C>T p.Phe425= p.F425= ENST00000359396 NM_018646.4 425 ttC/ttT 0 -TRUB2 UCSF GRCh37 9 131071985 131071985 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 104 41 95 0 ENST00000372890.4:c.840G>A p.Gln280= p.Q280= ENST00000372890 NM_015679.1 280 caG/caA 0 -TSC1 UCSF GRCh37 9 135781026 135781026 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 173 80 182 0 ENST00000298552.3:c.1939G>A p.Glu647Lys p.E647K ENST00000298552 NM_001162426.1 647 Gaa/Aaa 0 -TSEN34 UCSF GRCh37 19 54695758 54695758 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 46 88 0 ENST00000302937.4:c.430G>A p.Ala144Thr p.A144T ENST00000302937 NM_024075.3 144 Gct/Act 0 -TSGA10 UCSF GRCh37 2 99635071 99635071 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 31 59 0 ENST00000355053.4:c.1850G>A p.Arg617Lys p.R617K ENST00000355053 NM_182911.3 617 aGa/aAa 0 -TSGA10IP UCSF GRCh37 11 65714692 65714692 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 23 47 0 ENST00000532620.1:n.627C>T *209* ENST00000532620 0 -TSHZ3 UCSF GRCh37 19 31768300 31768300 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 64 129 0 ENST00000240587.4:c.2399G>A p.Gly800Asp p.G800D ENST00000240587 NM_020856.2 800 gGc/gAc 0 -TSNARE1 UCSF GRCh37 8 143356193 143356193 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 8 15 0 ENST00000524325.1:c.1392C>T p.Ser464= p.S464= ENST00000524325 464 tcC/tcT 0 -TSNARE1 UCSF GRCh37 8 143427177 143427177 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 157 34 58 0 ENST00000524325.1:c.165C>T p.Arg55= p.R55= ENST00000524325 55 cgC/cgT 0 -TSPAN10 UCSF GRCh37 17 79612306 79612306 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 39 91 0 ENST00000328585.4:c.325G>A p.Gly109Arg p.G109R ENST00000328585 NM_031945.3 109 Gga/Aga 0 -TSPAN12 UCSF GRCh37 7 120450610 120450610 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 39 127 0 ENST00000222747.3:c.375G>A p.Trp125Ter p.W125* ENST00000222747 NM_012338.3 125 tgG/tgA 0 -TSPAN16 UCSF GRCh37 19 11422816 11422816 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 23 57 0 ENST00000316737.1:c.605G>A p.Gly202Asp p.G202D ENST00000316737 NM_012466.2 202 gGc/gAc 0 -TSSK1B UCSF GRCh37 5 112770079 112770079 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 83 160 0 ENST00000390666.3:c.458C>T p.Ser153Phe p.S153F ENST00000390666 NM_032028.3 153 tCc/tTc 0 -TSSK3 UCSF GRCh37 1 32829748 32829748 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 74 143 0 ENST00000373534.3:c.698G>A p.Ser233Asn p.S233N ENST00000373534 NM_052841.3 233 aGc/aAc 0 -TSTA3 UCSF GRCh37 8 144695091 144695091 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 14 20 0 ENST00000425753.2:c.955G>A p.Ala319Thr p.A319T ENST00000425753 NM_003313.3 319 Gcc/Acc 0 -TSTA3 UCSF GRCh37 8 144698311 144698311 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 324 75 155 0 ENST00000425753.2:c.226C>T p.Leu76= p.L76= ENST00000425753 NM_003313.3 76 Ctg/Ttg 0 -TSTD2 UCSF GRCh37 9 100373856 100373856 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 172 79 160 0 ENST00000341170.4:c.729G>A p.Lys243= p.K243= ENST00000341170 NM_139246.4 243 aaG/aaA 0 -TTBK2 UCSF GRCh37 15 43038251 43038251 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 58 144 0 ENST00000267890.6:c.3477C>T p.Ser1159= p.S1159= ENST00000267890 NM_173500.3 1159 tcC/tcT 0 -TTC17 UCSF GRCh37 11 43429077 43429077 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 44 110 0 ENST00000039989.4:c.2014C>T p.Leu672Phe p.L672F ENST00000039989 NM_018259.5 672 Ctt/Ttt 0 -TTC18 UCSF GRCh37 10 75053137 75053137 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 68 131 0 ENST00000310715.3:c.1864G>A p.Asp622Asn p.D622N ENST00000310715 NM_145170.3 622 Gat/Aat 0 -TTC24 UCSF GRCh37 1 156555537 156555537 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 123 204 0 ENST00000368236.3:c.1489C>T p.His497Tyr p.H497Y ENST00000368236 NM_001105669.2 497 Cac/Tac 0 -IFT56 UCSF GRCh37 7 138865855 138865855 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 59 105 0 ENST00000464848.1:c.1330C>T p.Pro444Ser p.P444S ENST00000464848 NM_001287513.1 444 Cca/Tca 0 -TTC28 UCSF GRCh37 22 28389370 28389370 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 10 25 0 ENST00000397906.2:c.5381C>T p.Pro1794Leu p.P1794L ENST00000397906 NM_001145418.1 1794 cCc/cTc 0 -TTC28 UCSF GRCh37 22 28494902 28494902 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 50 88 0 ENST00000397906.2:c.3547+1G>A p.X1183_splice ENST00000397906 NM_001145418.1 0 -TTC3 UCSF GRCh37 21 38538141 38538141 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 129 114 203 0 ENST00000354749.2:c.3625C>T p.Pro1209Ser p.P1209S ENST00000354749 1209 Cca/Tca 0 -TTC38 UCSF GRCh37 22 46679926 46679926 + synonymous_variant Silent SNP G G A snp132_rs5768270 P10_Rec Untested WXS Illumina HiSeq 9 81 203 0 ENST00000381031.3:c.792G>A p.Glu264= p.E264= ENST00000381031 NM_017931.2 264 gaG/gaA 0 -TTC7B UCSF GRCh37 14 91211201 91211201 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 58 149 0 ENST00000328459.6:c.511G>A p.Asp171Asn p.D171N ENST00000328459 NM_001010854.1 171 Gat/Aat 0 -TTLL2 UCSF GRCh37 6 167753706 167753706 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 63 102 0 ENST00000239587.5:c.318G>A p.Arg106= p.R106= ENST00000239587 NM_031949.4 106 agG/agA 0 -TTLL5 UCSF GRCh37 14 76165563 76165563 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 35 83 0 ENST00000298832.9:c.535G>A p.Val179Ile p.V179I ENST00000298832 NM_015072.4 179 Gta/Ata 0 -TTLL7 UCSF GRCh37 1 84335694 84335694 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 59 119 0 ENST00000260505.8:c.2615G>A p.Gly872Glu p.G872E ENST00000260505 NM_024686.4 872 gGa/gAa 0 -TTN UCSF GRCh37 2 179403718 179403718 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 64 169 0 ENST00000591111.1:c.94021G>A p.Glu31341Lys p.E31341K ENST00000591111 31341 Gag/Aag 0 -TTN UCSF GRCh37 2 179616401 179616401 + intron_variant Intron SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 81 197 0 ENST00000591111.1:c.10360+1450G>A *3454* ENST00000591111 0 -TTN UCSF GRCh37 2 179469033 179469033 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 58 128 0 ENST00000591111.1:c.49459-1G>A p.X16487_splice ENST00000591111 0 -TTN UCSF GRCh37 2 179629420 179629420 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 71 174 0 ENST00000591111.1:c.9822G>A p.Lys3274= p.K3274= ENST00000591111 3274 aaG/aaA 0 -TUBD1 UCSF GRCh37 17 57963589 57963589 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 50 112 0 ENST00000325752.3:c.175C>T p.Pro59Ser p.P59S ENST00000325752 NM_016261.3 59 Cca/Tca 0 -TUBGCP3 UCSF GRCh37 13 113176698 113176698 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 63 150 0 ENST00000261965.3:c.1681G>A p.Ala561Thr p.A561T ENST00000261965 NM_006322.4 561 Gca/Aca 0 -TULP3 UCSF GRCh37 12 3046829 3046829 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 11 55 0 ENST00000448120.2:c.957G>A p.Arg319= p.R319= ENST00000448120 NM_003324.4 319 agG/agA 0 -TUSC3 UCSF GRCh37 8 15398061 15398061 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 18 41 0 ENST00000503731.1:c.122G>A p.Gly41Glu p.G41E ENST00000503731 NM_006765.3 41 gGa/gAa 0 -TWF2 UCSF GRCh37 3 52263952 52263952 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 36 59 0 ENST00000305533.5:c.744C>T p.Asp248= p.D248= ENST00000305533 NM_007284.3 248 gaC/gaT 0 -TXLNG UCSF GRCh37 X 16847817 16847817 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 67 159 0 ENST00000380122.5:c.788C>T p.Ala263Val p.A263V ENST00000380122 NM_018360.2 263 gCc/gTc 0 -TXNDC17 UCSF GRCh37 17 6546334 6546334 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 54 128 0 ENST00000250101.5:c.367G>A p.Asp123Asn p.D123N ENST00000250101 NM_032731.3 123 Gat/Aat 0 -TXNDC2 UCSF GRCh37 18 9887505 9887505 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 123 118 231 0 ENST00000306084.6:c.1029C>T p.Asp343= p.D343= ENST00000306084 NM_001098529.1 343 gaC/gaT 0 -UBE3C UCSF GRCh37 7 156967682 156967682 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 104 110 217 0 ENST00000348165.5:c.412C>T p.Leu138Phe p.L138F ENST00000348165 NM_014671.2 138 Ctt/Ttt 0 -UBR2 UCSF GRCh37 6 42658896 42658896 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 84 163 0 ENST00000372899.1:c.5253C>T p.Asp1751= p.D1751= ENST00000372899 NM_015255.2 1751 gaC/gaT 0 -UBR3 UCSF GRCh37 2 170806358 170806358 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 146 112 233 0 ENST00000272793.5:c.3328C>T p.Pro1110Ser p.P1110S ENST00000272793 1110 Cct/Tct 0 -UBR5 UCSF GRCh37 8 103323703 103323703 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 195 61 153 0 ENST00000520539.1:c.2440G>A p.Asp814Asn p.D814N ENST00000520539 NM_015902.5 814 Gat/Aat 0 -UBXN11 UCSF GRCh37 1 26609419 26609419 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 40 80 0 ENST00000374221.3:c.1087C>T p.Pro363Ser p.P363S ENST00000374221 NM_183008.2 363 Cca/Tca 0 -UBXN2B UCSF GRCh37 8 59346977 59346977 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 32 65 0 ENST00000399598.2:c.447G>A p.Trp149Ter p.W149* ENST00000399598 NM_001077619.1 149 tgG/tgA 0 -UCK1 UCSF GRCh37 9 134404345 134404345 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 41 44 0 ENST00000372215.4:c.589G>A p.Glu197Lys p.E197K ENST00000372215 NM_031432.2 197 Gag/Aag 0 -UGCG UCSF GRCh37 9 114676906 114676906 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 152 53 172 0 ENST00000374279.3:c.120G>A p.Lys40= p.K40= ENST00000374279 NM_003358.1 40 aaG/aaA 0 -UGT1A4 UCSF GRCh37 2 234627943 234627943 + synonymous_variant Silent SNP G G A snp132_rs45467894 P10_Rec Untested WXS Illumina HiSeq 226 36 222 0 ENST00000373409.3:c.477G>A p.Ala159= p.A159= ENST00000373409 NM_007120.2 159 gcG/gcA 0 -UGT1A7 UCSF GRCh37 2 234590941 234590942 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 0 ENST00000373426.3:c.364dup p.Ser122PhefsTer8 p.S122Ffs*8 ENST00000373426 NM_019077.2 120 ttt/tTtt 0 -UGT2A1 UCSF GRCh37 4 70512715 70512715 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 58 154 0 ENST00000503640.1:c.648C>T p.Tyr216= p.Y216= ENST00000503640 NM_006798.3 216 taC/taT 0 -UGT2B10 UCSF GRCh37 4 69886008 69886008 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 146 111 259 0 ENST00000505092.1:n.125G>A *42* ENST00000505092 0 -UHRF2 UCSF GRCh37 9 6413522 6413522 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 5 13 43 0 ENST00000276893.5:c.32C>T p.Ser11Phe p.S11F ENST00000276893 NM_152896.2 11 tCc/tTc 0 -ULK2 UCSF GRCh37 17 19689373 19689373 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 58 124 0 ENST00000361658.2:c.2128C>T p.Leu710= p.L710= ENST00000361658 NM_001142610.1 710 Ctg/Ttg 0 -UMOD UCSF GRCh37 16 20357622 20357622 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 37 135 0 ENST00000302509.4:c.1008G>A p.Gly336= p.G336= ENST00000302509 336 ggG/ggA 0 -UNC45A UCSF GRCh37 15 91479194 91479194 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 23 81 0 ENST00000418476.2:c.232G>A p.Glu78Lys p.E78K ENST00000418476 NM_018671.3 78 Gaa/Aaa 0 -UNC45A UCSF GRCh37 15 91486252 91486252 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 59 131 0 ENST00000418476.2:c.967G>A p.Val323Met p.V323M ENST00000418476 NM_018671.3 323 Gtg/Atg 0 -UNC5D UCSF GRCh37 8 35647908 35647908 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 68 150 0 ENST00000404895.2:c.2689C>T p.Pro897Ser p.P897S ENST00000404895 NM_080872.2 897 Cca/Tca 0 -UNC79 UCSF GRCh37 14 94121687 94121687 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 119 72 191 0 ENST00000393151.2:c.6507C>T p.Leu2169= p.L2169= ENST00000393151 2169 ctC/ctT 0 -UNKL UCSF GRCh37 16 1463919 1463919 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 8 9 0 ENST00000389221.4:c.215C>T p.Thr72Ile p.T72I ENST00000389221 NM_001193388.3 72 aCc/aTc 0 -UPF2 UCSF GRCh37 10 12071404 12071404 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 203 79 209 0 ENST00000356352.2:c.485G>A p.Ser162Asn p.S162N ENST00000356352 162 aGc/aAc 0 -UROC1 UCSF GRCh37 3 126211339 126211339 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 21 33 0 ENST00000290868.2:c.1530G>A p.Arg510= p.R510= ENST00000290868 NM_144639.2 510 agG/agA 0 -USH1G UCSF GRCh37 17 72916727 72916727 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 41 70 0 ENST00000319642.1:c.204C>T p.Pro68= p.P68= ENST00000319642 NM_173477.2 68 ccC/ccT 0 -USP14 UCSF GRCh37 18 199201 199201 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 67 164 0 ENST00000261601.7:c.762-1G>A p.X254_splice ENST00000261601 NM_005151.3 0 -USP16 UCSF GRCh37 21 30421082 30421082 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 47 96 0 ENST00000334352.4:c.2012G>A p.Gly671Asp p.G671D ENST00000334352 NM_001032410.1 671 gGt/gAt 0 -USP29 UCSF GRCh37 19 57641558 57641558 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 118 98 222 0 ENST00000254181.4:c.1515G>A p.Arg505= p.R505= ENST00000254181 NM_020903.2 505 agG/agA 0 -USP31 UCSF GRCh37 16 23083470 23083470 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 39 93 0 ENST00000219689.7:c.2384G>A p.Gly795Asp p.G795D ENST00000219689 NM_020718.3 795 gGc/gAc 0 -USP31 UCSF GRCh37 16 23093858 23093858 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 43 100 0 ENST00000219689.7:c.1851G>A p.Trp617Ter p.W617* ENST00000219689 NM_020718.3 617 tgG/tgA 0 -USP37 UCSF GRCh37 2 219399332 219399332 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 72 119 0 ENST00000258399.3:c.778G>A p.Gly260Arg p.G260R ENST00000258399 NM_020935.2 260 Ggg/Agg 0 -USP42 UCSF GRCh37 7 6193961 6193961 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 13 22 0 ENST00000306177.5:c.2776G>A p.Asp926Asn p.D926N ENST00000306177 NM_032172.2 926 Gac/Aac 0 -USP49 UCSF GRCh37 6 41773902 41773902 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 54 127 0 ENST00000373009.3:c.820C>T p.Leu274Phe p.L274F ENST00000373009 274 Ctc/Ttc 0 -USP53 UCSF GRCh37 4 120192956 120192956 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 100 201 0 ENST00000274030.6:c.1941G>A p.Lys647= p.K647= ENST00000274030 NM_019050.2 647 aaG/aaA 0 -USP6 UCSF GRCh37 17 5042941 5042941 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 57 105 0 ENST00000250066.6:c.1470C>T p.Thr490= p.T490= ENST00000250066 NM_004505.2 490 acC/acT 0 -USP6 UCSF GRCh37 17 5049340 5049340 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 85 190 0 ENST00000250066.6:c.2190C>T p.Thr730= p.T730= ENST00000250066 NM_004505.2 730 acC/acT 0 -USP6NL UCSF GRCh37 10 11531176 11531176 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 188 97 232 0 ENST00000609104.1:c.589C>T p.Leu197Phe p.L197F ENST00000609104 NM_014688.2 197 Ctc/Ttc 0 -USP7 UCSF GRCh37 16 9017133 9017133 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 67 164 0 ENST00000344836.4:c.322G>A p.Asp108Asn p.D108N ENST00000344836 NM_003470.2 108 Gac/Aac 0 -USP9X UCSF GRCh37 X 41031163 41031163 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 83 67 172 0 ENST00000324545.8:c.3100C>T p.Pro1034Ser p.P1034S ENST00000324545 NM_001039590.2 1034 Cca/Tca 0 -UST UCSF GRCh37 6 149340293 149340293 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 68 171 0 ENST00000367463.4:c.700C>T p.Leu234Phe p.L234F ENST00000367463 NM_005715.2 234 Ctt/Ttt 0 -UTP23 UCSF GRCh37 8 117783700 117783700 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 221 68 168 0 ENST00000309822.2:c.369G>A p.Gln123= p.Q123= ENST00000309822 NM_032334.2 123 caG/caA 0 -UTP6 UCSF GRCh37 17 30207669 30207669 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 90 227 0 ENST00000261708.4:c.890C>T p.Ala297Val p.A297V ENST00000261708 NM_018428.2 297 gCc/gTc 0 -UTRN UCSF GRCh37 6 145157578 145157578 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 73 147 0 ENST00000367545.3:c.9966G>A p.Arg3322= p.R3322= ENST00000367545 NM_007124.2 3322 agG/agA 0 -VANGL1 UCSF GRCh37 1 116226592 116226592 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 45 110 0 ENST00000310260.3:c.974C>T p.Ser325Phe p.S325F ENST00000310260 NM_001172412.1 325 tCc/tTc 0 -VARS2 UCSF GRCh37 6 30890299 30890299 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 70 124 0 ENST00000321897.5:c.2005C>T p.Pro669Ser p.P669S ENST00000321897 669 Cca/Tca 0 -VAV1 UCSF GRCh37 19 6825417 6825417 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 20 40 0 ENST00000602142.1:c.827G>A p.Arg276Lys p.R276K ENST00000602142 NM_005428.3 276 aGg/aAg 0 -VAV2 UCSF GRCh37 9 136648680 136648680 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 27 50 0 ENST00000371850.3:c.1668G>A p.Lys556= p.K556= ENST00000371850 NM_001134398.1 556 aaG/aaA 0 -VAX2 UCSF GRCh37 2 71160028 71160028 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 29 59 0 ENST00000234392.2:c.567C>T p.Gly189= p.G189= ENST00000234392 NM_012476.2 189 ggC/ggT 0 -VCAM1 UCSF GRCh37 1 101194751 101194751 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 92 197 0 ENST00000294728.2:c.1017C>T p.Gly339= p.G339= ENST00000294728 NM_001078.3 339 ggC/ggT 0 -VCAN UCSF GRCh37 5 82817933 82817933 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 110 209 0 ENST00000265077.3:c.3808G>A p.Glu1270Lys p.E1270K ENST00000265077 NM_004385.4 1270 Gaa/Aaa 0 -VCAN UCSF GRCh37 5 82808139 82808139 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 33 56 0 ENST00000265077.3:c.966G>A p.Val322= p.V322= ENST00000265077 NM_004385.4 322 gtG/gtA 0 -VCAN UCSF GRCh37 5 82836478 82836478 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 58 160 0 ENST00000265077.3:c.7656G>A p.Lys2552= p.K2552= ENST00000265077 NM_004385.4 2552 aaG/aaA 0 -VCX UCSF GRCh37 X 7811579 7811579 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 166 24 326 0 ENST00000381059.3:c.143G>A p.Gly48Glu p.G48E ENST00000381059 NM_013452.2 48 gGg/gAg 0 -VEGFB UCSF GRCh37 11 64004961 64004961 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 23 39 0 ENST00000309422.2:c.480C>T p.Pro160= p.P160= ENST00000309422 NM_003377.4 160 ccC/ccT 0 -VGLL4 UCSF GRCh37 3 11606380 11606380 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 21 23 0 ENST00000273038.3:c.368C>T p.Ser123Phe p.S123F ENST00000273038 NM_014667.2 123 tCc/tTc 0 -VHL UCSF GRCh37 3 10183713 10183713 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 12 5 13 0 ENST00000256474.2:c.182C>T p.Pro61Leu p.P61L ENST00000256474 NM_000551.3 61 cCc/cTc 0 -VIL1 UCSF GRCh37 2 219290394 219290394 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 47 100 0 ENST00000248444.5:c.207C>T p.Asp69= p.D69= ENST00000248444 NM_007127.2 69 gaC/gaT 0 -VOPP1 UCSF GRCh37 7 55588814 55588814 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 52 105 0 ENST00000285279.5:c.64G>A p.Ala22Thr p.A22T ENST00000285279 NM_030796.3 22 Gcc/Acc 0 -VPRBP UCSF GRCh37 3 51457206 51457206 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 117 191 0 ENST00000423656.1:c.1931G>A p.Arg644Lys p.R644K ENST00000423656 644 aGg/aAg 0 -VPS13A UCSF GRCh37 9 79897163 79897163 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 137 81 145 0 ENST00000360280.3:c.3091G>A p.Asp1031Asn p.D1031N ENST00000360280 NM_033305.2 1031 Gac/Aac 0 -VPS13B UCSF GRCh37 8 100887721 100887721 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 295 106 158 0 ENST00000358544.2:c.11896C>T p.His3966Tyr p.H3966Y ENST00000358544 NM_017890.4 3966 Cac/Tac 0 -VPS13B UCSF GRCh37 8 100880671 100880671 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 28 56 0 ENST00000358544.2:c.11445G>A p.Glu3815= p.E3815= ENST00000358544 NM_017890.4 3815 gaG/gaA 0 -VPS13C UCSF GRCh37 15 62223314 62223314 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 90 176 0 ENST00000261517.5:c.6013G>A p.Glu2005Lys p.E2005K ENST00000261517 NM_020821.2 2005 Gaa/Aaa 0 -VPS13C UCSF GRCh37 15 62302748 62302748 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 83 153 0 ENST00000261517.5:c.934G>A p.Glu312Lys p.E312K ENST00000261517 NM_020821.2 312 Gaa/Aaa 0 -VPS13D UCSF GRCh37 1 12336919 12336919 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 96 178 0 ENST00000358136.3:c.3274C>T p.Pro1092Ser p.P1092S ENST00000358136 NM_015378.2 1092 Cca/Tca 0 -VPS13D UCSF GRCh37 1 12364596 12364596 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 39 80 0 ENST00000358136.3:c.6250C>T p.Pro2084Ser p.P2084S ENST00000358136 NM_015378.2 2084 Ccc/Tcc 0 -VPS13D UCSF GRCh37 1 12343695 12343695 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 67 144 0 ENST00000358136.3:c.5536C>T p.Leu1846= p.L1846= ENST00000358136 NM_015378.2 1846 Ctg/Ttg 0 -VPS18 UCSF GRCh37 15 41192761 41192761 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 135 92 98 0 ENST00000220509.5:c.1745C>T p.Ala582Val p.A582V ENST00000220509 NM_020857.2 582 gCc/gTc 0 -VPS33A UCSF GRCh37 12 122735630 122735630 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 38 99 0 ENST00000267199.4:c.500G>A p.Gly167Asp p.G167D ENST00000267199 NM_022916.4 167 gGt/gAt 0 -VPS33B UCSF GRCh37 15 91548327 91548327 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 49 100 0 ENST00000333371.3:c.1128C>T p.Ile376= p.I376= ENST00000333371 NM_018668.3 376 atC/atT 0 -VPS35 UCSF GRCh37 16 46695702 46695702 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 91 148 0 ENST00000299138.7:c.2139C>T p.Pro713= p.P713= ENST00000299138 NM_018206.4 713 ccC/ccT 0 -VTI1B UCSF GRCh37 14 68120170 68120170 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.00092 P10_Rec Untested WXS Illumina HiSeq 42 33 76 0 ENST00000554659.1:c.586C>T p.Arg196Cys p.R196C ENST00000554659 NM_006370.2 196 Cgt/Tgt 0 -VWA5A UCSF GRCh37 11 123989046 123989046 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 67 130 0 ENST00000392748.1:c.397C>T p.Leu133= p.L133= ENST00000392748 NM_014622.4 133 Ctg/Ttg 0 -VWA5B2 UCSF GRCh37 3 183955045 183955045 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 46 81 0 ENST00000426955.2:c.1565C>T p.Pro522Leu p.P522L ENST00000426955 NM_138345.1 522 cCt/cTt 0 -VWCE UCSF GRCh37 11 61048580 61048580 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 14 26 0 ENST00000335613.5:c.915G>A p.Gly305= p.G305= ENST00000335613 NM_152718.2 305 ggG/ggA 0 -VWDE UCSF GRCh37 7 12381735 12381735 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 27 66 0 ENST00000275358.3:c.4220C>T p.Pro1407Leu p.P1407L ENST00000275358 NM_001135924.1 1407 cCa/cTa 0 -VWDE UCSF GRCh37 7 12428924 12428924 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 58 112 0 ENST00000275358.3:c.304C>T p.Pro102Ser p.P102S ENST00000275358 NM_001135924.1 102 Cca/Tca 0 -VWDE UCSF GRCh37 7 12410335 12410335 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 45 143 0 ENST00000275358.3:c.1743G>A p.Gly581= p.G581= ENST00000275358 NM_001135924.1 581 ggG/ggA 0 -VWF UCSF GRCh37 12 6125351 6125351 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 50 151 0 ENST00000261405.5:c.5359G>A p.Gly1787Ser p.G1787S ENST00000261405 NM_000552.3 1787 Ggt/Agt 0 -VWF UCSF GRCh37 12 6101071 6101071 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 46 79 0 ENST00000261405.5:c.6712C>T p.Pro2238Ser p.P2238S ENST00000261405 NM_000552.3 2238 Cct/Tct 0 -WAPAL UCSF GRCh37 10 88206137 88206137 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 87 74 139 0 ENST00000298767.5:c.3184C>T p.Pro1062Ser p.P1062S ENST00000298767 NM_015045.2 1062 Ccc/Tcc 0 -WARS UCSF GRCh37 14 100820200 100820200 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 54 83 0 ENST00000355338.2:c.549C>T p.Leu183= p.L183= ENST00000355338 NM_173701.1 183 ctC/ctT 0 -WASL UCSF GRCh37 7 123332789 123332789 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 65 79 0 ENST00000223023.4:c.959C>T p.Ala320Val p.A320V ENST00000223023 NM_003941.3 320 gCt/gTt 0 -WBSCR27 UCSF GRCh37 7 73256395 73256395 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 30 49 1 ENST00000297873.4:c.76G>A p.Ala26Thr p.A26T ENST00000297873 NM_152559.2 26 Gcc/Acc 0 -WDFY4 UCSF GRCh37 10 50184901 50184901 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 23 39 0 ENST00000325239.5:c.9168C>T p.Pro3056= p.P3056= ENST00000325239 NM_020945.1 3056 ccC/ccT 0 -WDR1 UCSF GRCh37 4 10086084 10086084 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 87 146 0 ENST00000382452.2:c.1022G>A p.Ser341Asn p.S341N ENST00000382452 NM_017491.3 341 aGc/aAc 0 -WDR1 UCSF GRCh37 4 10084717 10084717 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 45 80 0 ENST00000382452.2:c.1125G>A p.Glu375= p.E375= ENST00000382452 NM_017491.3 375 gaG/gaA 0 -WDR19 UCSF GRCh37 4 39217716 39217716 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 131 133 206 0 ENST00000399820.3:c.1135G>A p.Glu379Lys p.E379K ENST00000399820 NM_025132.3 379 Gag/Aag 0 -WDR41 UCSF GRCh37 5 76754933 76754933 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 89 162 0 ENST00000296679.4:c.365C>T p.Thr122Ile p.T122I ENST00000296679 NM_018268.2 122 aCt/aTt 0 -WDR52 UCSF GRCh37 3 113022845 113022845 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 91 206 0 ENST00000393845.2:c.4995G>A p.Lys1665= p.K1665= ENST00000393845 NM_001164496.1 1665 aaG/aaA 0 -WDR60 UCSF GRCh37 7 158672454 158672454 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 68 180 0 ENST00000407559.3:c.653C>T p.Pro218Leu p.P218L ENST00000407559 NM_018051.4 218 cCc/cTc 0 -WDR64 UCSF GRCh37 1 241842826 241842826 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 117 107 213 0 ENST00000366552.2:c.523C>T p.Leu175= p.L175= ENST00000366552 NM_144625.4 175 Ctg/Ttg 0 -WDR64 UCSF GRCh37 1 241901791 241901791 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 42 106 0 ENST00000366552.2:c.1291G>A p.Gly431Arg p.G431R ENST00000366552 NM_144625.4 431 Gga/Aga 0 -WDR67 UCSF GRCh37 8 124109547 124109547 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 249 71 176 0 ENST00000287380.1:c.697G>A p.Gly233Ser p.G233S ENST00000287380 NM_145647.3 233 Ggc/Agc 0 -WDR78 UCSF GRCh37 1 67293571 67293571 + missense_variant Missense_Mutation SNP C C T snp132_rs78356162 P10_Rec Untested WXS Illumina HiSeq 100 56 222 0 ENST00000371026.3:c.2036G>A p.Gly679Asp p.G679D ENST00000371026 NM_024763.4 679 gGc/gAc 0 -WDR87 UCSF GRCh37 19 38375629 38375629 + synonymous_variant Silent SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 76 51 144 0 ENST00000303868.5:c.8565T>C p.Pro2855= p.P2855= ENST00000303868 NM_031951.3 2855 ccT/ccC 0 -WDR90 UCSF GRCh37 16 708958 708958 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 70 90 0 ENST00000293879.4:c.2958C>T p.Val986= p.V986= ENST00000293879 986 gtC/gtT 0 -WDR93 UCSF GRCh37 15 90280885 90280885 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 64 145 0 ENST00000268130.7:c.1690G>A p.Gly564Arg p.G564R ENST00000268130 NM_020212.1 564 Gga/Aga 0 -WDYHV1 UCSF GRCh37 8 124453573 124453573 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 70 24 45 0 ENST00000287387.2:c.536T>C p.Ile179Thr p.I179T ENST00000287387 NM_018024.1 179 aTc/aCc 0 -WFDC8 UCSF GRCh37 20 44190858 44190858 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 47 92 0 ENST00000289953.2:c.27G>A p.Gly9= p.G9= ENST00000289953 NM_130896.2 9 ggG/ggA 0 -WFS1 UCSF GRCh37 4 6303446 6303446 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 75 147 0 ENST00000226760.1:c.1924G>A p.Ala642Thr p.A642T ENST00000226760 NM_001145853.1 642 Gcc/Acc 0 -WHSC2 UCSF GRCh37 4 1993350 1993350 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 69 152 0 ENST00000411638.2:c.303G>A p.Pro101= p.P101= ENST00000411638 NM_005663.4 101 ccG/ccA 0 -WIPF3 UCSF GRCh37 7 29874428 29874428 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 31 31 64 0 ENST00000242140.5:c.88C>T p.Pro30Ser p.P30S ENST00000242140 30 Ccg/Tcg 0 -WIPI1 UCSF GRCh37 17 66426297 66426297 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 60 95 0 ENST00000262139.5:c.805C>T p.Pro269Ser p.P269S ENST00000262139 NM_017983.5 269 Cca/Tca 0 -WISP2 UCSF GRCh37 20 43348583 43348583 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 17 30 0 ENST00000190983.4:c.106C>T p.Pro36Ser p.P36S ENST00000190983 NM_003881.2 36 Cct/Tct 0 -WISP3 UCSF GRCh37 6 112386099 112386099 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 123 100 212 0 ENST00000230529.5:c.488G>A p.Ser163Asn p.S163N ENST00000230529 NM_003880.3 163 aGt/aAt 0 -WIZ UCSF GRCh37 19 15558993 15558993 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 61 114 0 ENST00000263381.7:c.126C>T p.Gly42= p.G42= ENST00000263381 NM_021241.2 42 ggC/ggT 0 -WNK4 UCSF GRCh37 17 40939296 40939296 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 33 66 0 ENST00000246914.5:c.1477G>A p.Val493Met p.V493M ENST00000246914 NM_032387.4 493 Gtg/Atg 0 -WWOX UCSF GRCh37 16 78148914 78148914 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 68 179 0 ENST00000566780.1:c.272C>T p.Ala91Val p.A91V ENST00000566780 NM_016373.2 91 gCg/gTg 0 -XCL2 UCSF GRCh37 1 168510241 168510241 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 49 155 0 ENST00000367819.2:c.294G>A p.Lys98= p.K98= ENST00000367819 NM_003175.3 98 aaG/aaA 0 -XIRP1 UCSF GRCh37 3 39225432 39225432 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 1 27 39 0 ENST00000340369.3:c.5505C>T p.Cys1835= p.C1835= ENST00000340369 NM_194293.2 1835 tgC/tgT 0 -XIRP2 UCSF GRCh37 2 168104383 168104383 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 64 159 0 ENST00000409195.1:c.6481C>T p.Pro2161Ser p.P2161S ENST00000409195 NM_152381.5 2161 Ccc/Tcc 0 -XIRP2 UCSF GRCh37 2 168106448 168106448 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 120 84 201 0 ENST00000409195.1:c.8546C>T p.Ala2849Val p.A2849V ENST00000409195 NM_152381.5 2849 gCa/gTa 0 -XKR6 UCSF GRCh37 8 10755681 10755681 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 49 100 0 ENST00000416569.2:c.1707G>A p.Gly569= p.G569= ENST00000416569 NM_173683.3 569 ggG/ggA 0 -XPO6 UCSF GRCh37 16 28133067 28133067 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 66 99 0 ENST00000304658.5:c.1783C>T p.Leu595= p.L595= ENST00000304658 NM_015171.3 595 Ctg/Ttg 0 -XPO6 UCSF GRCh37 16 28187408 28187408 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 52 107 0 ENST00000304658.5:c.216C>T p.Ile72= p.I72= ENST00000304658 NM_015171.3 72 atC/atT 0 -XPO7 UCSF GRCh37 8 21840150 21840150 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 90 173 0 ENST00000252512.9:c.1105-1G>A p.X369_splice ENST00000252512 NM_015024.4 0 -XRCC5 UCSF GRCh37 2 217024854 217024854 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 57 128 0 ENST00000392132.2:c.1734C>T p.Val578= p.V578= ENST00000392132 NM_021141.3 578 gtC/gtT 0 -XRN2 UCSF GRCh37 20 21306968 21306968 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 69 125 0 ENST00000377191.3:c.127C>T p.Pro43Ser p.P43S ENST00000377191 NM_012255.3 43 Cca/Tca 0 -YEATS2 UCSF GRCh37 3 183524881 183524881 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 29 78 0 ENST00000305135.5:c.4011+1G>A p.X1337_splice ENST00000305135 NM_018023.4 0 -YIPF1 UCSF GRCh37 1 54332585 54332585 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 51 124 0 ENST00000072644.1:c.494C>T p.Ala165Val p.A165V ENST00000072644 NM_018982.4 165 gCt/gTt 0 -YIPF7 UCSF GRCh37 4 44626798 44626798 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 28 48 0 ENST00000332990.5:c.500C>T p.Ala167Val p.A167V ENST00000332990 NM_182592.2 167 gCa/gTa 0 -YLPM1 UCSF GRCh37 14 75248373 75248373 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 58 126 0 ENST00000325680.7:c.1627C>T p.Pro543Ser p.P543S ENST00000325680 NM_019589.2 543 Cca/Tca 0 -YTHDC2 UCSF GRCh37 5 112868676 112868676 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 61 147 0 ENST00000161863.4:c.776G>A p.Arg259Lys p.R259K ENST00000161863 NM_022828.3 259 aGa/aAa 0 -YTHDF1 UCSF GRCh37 20 61834707 61834707 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.014,1000g2011may_all_0.0485,snp132_rs115419512 P10_Rec Untested WXS Illumina HiSeq 51 52 75 0 ENST00000370339.3:c.585C>T p.Val195= p.V195= ENST00000370339 NM_017798.3 195 gtC/gtT 0 -YTHDF2 UCSF GRCh37 1 29069104 29069104 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 130 199 0 ENST00000373812.3:c.322C>T p.Pro108Ser p.P108S ENST00000373812 NM_016258.2 108 Cca/Tca 0 -ZBBX UCSF GRCh37 3 167086299 167086299 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 63 146 0 ENST00000392766.2:c.132G>A p.Lys44= p.K44= ENST00000392766 NM_001199201.1 44 aaG/aaA 0 -ZBED4 UCSF GRCh37 22 50278966 50278966 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 124 193 0 ENST00000216268.5:c.1656G>A p.Met552Ile p.M552I ENST00000216268 NM_014838.2 552 atG/atA 0 -ZBTB44 UCSF GRCh37 11 130131626 130131626 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 129 93 206 0 ENST00000357899.4:c.143T>C p.Val48Ala p.V48A ENST00000357899 48 gTa/gCa 0 -ZC3H11A UCSF GRCh37 1 203819029 203819029 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 70 146 0 ENST00000332127.4:c.1814C>T p.Thr605Ile p.T605I ENST00000332127 605 aCa/aTa 0 -ZC3H12B UCSF GRCh37 X 64721891 64721891 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 78 150 0 ENST00000338957.4:c.1313C>T p.Pro438Leu p.P438L ENST00000338957 NM_001010888.3 438 cCc/cTc 0 -ZC3H12D UCSF GRCh37 6 149795470 149795470 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 19 18 65 0 ENST00000409806.3:c.210C>T p.Ala70= p.A70= ENST00000409806 70 gcC/gcT 0 -ZC3H18 UCSF GRCh37 16 88666340 88666340 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 60 118 0 ENST00000301011.5:c.1072G>A p.Asp358Asn p.D358N ENST00000301011 NM_144604.3 358 Gat/Aat 0 -ZC3H4 UCSF GRCh37 19 47570075 47570075 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 7 21 0 ENST00000253048.5:c.3450C>T p.Asp1150= p.D1150= ENST00000253048 NM_015168.1 1150 gaC/gaT 0 -ZCCHC17 UCSF GRCh37 1 31819541 31819541 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 53 119 0 ENST00000344147.5:c.372C>T p.Thr124= p.T124= ENST00000344147 NM_016505.2 124 acC/acT 0 -ZCCHC4 UCSF GRCh37 4 25334924 25334924 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 60 156 0 ENST00000302874.4:c.449C>T p.Ser150Phe p.S150F ENST00000302874 NM_024936.2 150 tCc/tTc 0 -ZCCHC7 UCSF GRCh37 9 37357113 37357113 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 115 58 152 0 ENST00000336755.5:c.1480C>T p.Pro494Ser p.P494S ENST00000336755 NM_032226.2 494 Ccc/Tcc 0 -ZDBF2 UCSF GRCh37 2 207172904 207172904 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 143 118 242 0 ENST00000374423.3:c.3652G>A p.Val1218Ile p.V1218I ENST00000374423 NM_020923.1 1218 Gtt/Att 0 -ZDBF2 UCSF GRCh37 2 207146624 207146624 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 64 140 0 ENST00000374423.3:c.51C>T p.Asn17= p.N17= ENST00000374423 NM_020923.1 17 aaC/aaT 0 -ZDHHC11 UCSF GRCh37 5 837480 837480 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 245 85 294 0 ENST00000283441.8:c.900G>A p.Gln300= p.Q300= ENST00000283441 NM_024786.2 300 caG/caA 0 -ZDHHC18 UCSF GRCh37 1 27177632 27177632 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 47 122 0 ENST00000374142.4:c.846G>A p.Leu282= p.L282= ENST00000374142 NM_032283.2 282 ttG/ttA 0 -ZEB1 UCSF GRCh37 10 31810044 31810044 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 129 73 138 0 ENST00000320985.10:c.1781C>T p.Ser594Phe p.S594F ENST00000320985 594 tCt/tTt 0 -ZEB1 UCSF GRCh37 10 31809528 31809528 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 168 69 127 0 ENST00000320985.10:c.1265G>A p.Gly422Asp p.G422D ENST00000320985 422 gGt/gAt 0 -ZFAT UCSF GRCh37 8 135602547 135602547 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 338 87 166 0 ENST00000377838.3:c.2527C>T p.Arg843Ter p.R843* ENST00000377838 NM_020863.3 843 Cga/Tga 0 -ZFHX3 UCSF GRCh37 16 72821844 72821844 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 65 114 0 ENST00000268489.5:c.10331C>T p.Ala3444Val p.A3444V ENST00000268489 NM_006885.3 3444 gCa/gTa 0 -ZFHX3 UCSF GRCh37 16 72822098 72822098 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 33 57 0 ENST00000268489.5:c.10077C>T p.Ser3359= p.S3359= ENST00000268489 NM_006885.3 3359 tcC/tcT 0 -ZFP106 UCSF GRCh37 15 42742112 42742112 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 114 191 0 ENST00000263805.4:c.2289C>T p.His763= p.H763= ENST00000263805 NM_022473.1 763 caC/caT 0 -ZFP112 UCSF GRCh37 19 44833062 44833062 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 103 180 0 ENST00000337401.4:c.1266G>A p.Lys422= p.K422= ENST00000337401 NM_001083335.1 422 aaG/aaA 0 -ZFP37 UCSF GRCh37 9 115805440 115805440 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 138 68 163 0 ENST00000374227.3:c.1458G>A p.Glu486= p.E486= ENST00000374227 486 gaG/gaA 0 -ZFP64 UCSF GRCh37 20 50701786 50701786 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 23 59 0 ENST00000361387.2:c.1248C>T p.Cys416= p.C416= ENST00000361387 NM_199427.2 416 tgC/tgT 0 -ZFR2 UCSF GRCh37 19 3819067 3819067 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 10 32 0 ENST00000262961.4:c.1907G>A p.Arg636Gln p.R636Q ENST00000262961 NM_015174.1 636 cGa/cAa 0 -ZFR2 UCSF GRCh37 19 3819223 3819223 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 6 26 0 ENST00000262961.4:c.1751G>A p.Arg584Gln p.R584Q ENST00000262961 NM_015174.1 584 cGg/cAg 0 -ZFYVE1 UCSF GRCh37 14 73437702 73437702 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 56 103 1 ENST00000556143.1:c.2222G>A p.Gly741Glu p.G741E ENST00000556143 NM_021260.2 741 gGa/gAa 0 -ZFYVE1 UCSF GRCh37 14 73490913 73490913 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 96 208 0 ENST00000556143.1:c.304G>A p.Glu102Lys p.E102K ENST00000556143 NM_021260.2 102 Gag/Aag 0 -ZMYM1 UCSF GRCh37 1 35559671 35559671 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 39 138 0 ENST00000359858.4:c.83C>T p.Pro28Leu p.P28L ENST00000359858 NM_024772.3 28 cCc/cTc 0 -ZMYND11 UCSF GRCh37 10 255829 255829 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 191 69 167 0 ENST00000381591.1:c.117G>A p.Lys39= p.K39= ENST00000381591 39 aaG/aaA 0 -ZNF131 UCSF GRCh37 5 43139398 43139398 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 86 177 0 ENST00000509156.1:c.358G>A p.Ala120Thr p.A120T ENST00000509156 120 Gcc/Acc 0 -ZNF142 UCSF GRCh37 2 219513823 219513823 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 48 88 0 ENST00000411696.2:c.808G>A p.Glu270Lys p.E270K ENST00000411696 270 Gag/Aag 0 -ZNF16 UCSF GRCh37 8 146157636 146157636 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 389 101 194 0 ENST00000276816.4:c.537G>A p.Arg179= p.R179= ENST00000276816 NM_001029976.2 179 agG/agA 0 -ZNF165 UCSF GRCh37 6 28056718 28056718 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 43 119 0 ENST00000377325.1:c.928C>T p.His310Tyr p.H310Y ENST00000377325 NM_003447.3 310 Cat/Tat 0 -ZNF184 UCSF GRCh37 6 27420104 27420104 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 62 173 0 ENST00000211936.6:c.1234C>T p.His412Tyr p.H412Y ENST00000211936 NM_007149.2 412 Cat/Tat 0 -ZNF187 UCSF GRCh37 6 28244609 28244609 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 93 225 0 ENST00000421553.2:n.1443C>T *481* ENST00000421553 0 -ZNF224 UCSF GRCh37 19 44611321 44611321 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0011 P10_Rec Untested WXS Illumina HiSeq 164 136 255 0 ENST00000336976.6:c.1008G>A p.Met336Ile p.M336I ENST00000336976 NM_013398.2 336 atG/atA 0 -ZNF259 UCSF GRCh37 11 116650508 116650508 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 49 146 0 ENST00000227322.3:c.1225G>A p.Ala409Thr p.A409T ENST00000227322 NM_003904.3 409 Gca/Aca 0 -ZNF280C UCSF GRCh37 X 129339294 129339294 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 73 155 1 ENST00000370978.4:c.2138C>T p.Thr713Ile p.T713I ENST00000370978 NM_017666.4 713 aCt/aTt 0 -ZNF281 UCSF GRCh37 1 200377972 200377972 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 131 134 191 0 ENST00000294740.3:c.862C>T p.Pro288Ser p.P288S ENST00000294740 NM_001281293.1 288 Cct/Tct 0 -ZNF282 UCSF GRCh37 7 148907734 148907734 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 13 28 0 ENST00000262085.3:c.890C>T p.Thr297Ile p.T297I ENST00000262085 NM_003575.2 297 aCc/aTc 0 -ZNF3 UCSF GRCh37 7 99669573 99669573 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 103 206 0 ENST00000299667.4:c.534G>A p.Gly178= p.G178= ENST00000299667 178 ggG/ggA 0 -ZNF300 UCSF GRCh37 5 150275333 150275333 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 58 154 0 ENST00000274599.5:c.1468G>A p.Glu490Lys p.E490K ENST00000274599 NM_052860.2 490 Gaa/Aaa 0 -ZNF317 UCSF GRCh37 19 9269574 9269574 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 37 96 0 ENST00000247956.6:c.458G>A p.Gly153Asp p.G153D ENST00000247956 NM_020933.4 153 gGt/gAt 0 -ZNF324B UCSF GRCh37 19 58966831 58966831 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 49 91 0 ENST00000336614.4:c.520C>T p.Pro174Ser p.P174S ENST00000336614 NM_207395.2 174 Ccc/Tcc 0 -ZNF385A UCSF GRCh37 12 54764711 54764711 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 64 117 0 ENST00000338010.5:c.834G>A p.Gln278= p.Q278= ENST00000338010 NM_001130967.1 278 caG/caA 0 -ZNF410 UCSF GRCh37 14 74388848 74388848 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 64 116 0 ENST00000555044.1:c.1209C>T p.Pro403= p.P403= ENST00000555044 NM_021188.2 403 ccC/ccT 0 -ZNF415 UCSF GRCh37 19 53619578 53619578 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 148 116 251 0 ENST00000500065.4:c.124C>T p.Leu42= p.L42= ENST00000500065 NM_001136038.2 42 Ctg/Ttg 0 -ZNF423 UCSF GRCh37 16 49669888 49669888 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 24 56 0 ENST00000262383.2:c.3175G>A p.Gly1059Arg p.G1059R ENST00000262383 1059 Ggg/Agg 0 -ZNF425 UCSF GRCh37 7 148815372 148815372 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 121 177 0 ENST00000378061.2:c.87G>A p.Trp29Ter p.W29* ENST00000378061 NM_001001661.2 29 tgG/tgA 0 -ZNF429 UCSF GRCh37 19 21719844 21719844 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 106 213 0 ENST00000358491.4:c.989G>A p.Ser330Asn p.S330N ENST00000358491 NM_001001415.2 330 aGc/aAc 0 -ZNF43 UCSF GRCh37 19 21990809 21990809 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 129 104 208 0 ENST00000354959.4:c.2030C>T p.Pro677Leu p.P677L ENST00000354959 NM_003423.3 677 cCc/cTc 0 -ZNF432 UCSF GRCh37 19 52537701 52537701 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 112 99 235 0 ENST00000221315.5:c.1231C>T p.Pro411Ser p.P411S ENST00000221315 NM_014650.2 411 Ccc/Tcc 0 -ZNF445 UCSF GRCh37 3 44489299 44489299 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 106 185 0 ENST00000396077.2:c.1864G>A p.Glu622Lys p.E622K ENST00000396077 NM_181489.5 622 Gag/Aag 0 -ZNF449 UCSF GRCh37 X 134481311 134481311 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 64 176 0 ENST00000339249.4:c.268G>A p.Val90Met p.V90M ENST00000339249 NM_152695.5 90 Gtg/Atg 0 -ZNF460 UCSF GRCh37 19 57795929 57795929 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 66 195 0 ENST00000360338.3:c.41C>T p.Thr14Ile p.T14I ENST00000360338 NM_006635.3 14 aCc/aTc 0 -ZNF470 UCSF GRCh37 19 57089633 57089633 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 62 130 0 ENST00000330619.8:c.1836G>A p.Gln612= p.Q612= ENST00000330619 NM_001001668.3 612 caG/caA 0 -ZNF483 UCSF GRCh37 9 114304687 114304687 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 144 57 129 0 ENST00000309235.5:c.1472G>A p.Gly491Glu p.G491E ENST00000309235 NM_133464.2 491 gGa/gAa 0 -ZNF484 UCSF GRCh37 9 95610568 95610568 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 240 111 209 0 ENST00000375495.3:c.501C>T p.His167= p.H167= ENST00000375495 NM_031486.2 167 caC/caT 0 -ZNF516 UCSF GRCh37 18 74091782 74091782 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 39 65 1 ENST00000443185.2:c.2288C>T p.Pro763Leu p.P763L ENST00000443185 NM_014643.3 763 cCt/cTt 0 -ZNF527 UCSF GRCh37 19 37880574 37880574 + synonymous_variant Silent SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 71 79 132 0 ENST00000436120.2:c.1623T>C p.Leu541= p.L541= ENST00000436120 NM_032453.1 541 ctT/ctC 0 -ZNF541 UCSF GRCh37 19 48058965 48058965 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 38 49 79 0 ENST00000391901.3:c.149G>A p.Ser50Asn p.S50N ENST00000391901 NM_001277075.1 50 aGt/aAt 0 -ZNF543 UCSF GRCh37 19 57839758 57839758 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 77 205 0 ENST00000321545.4:c.928C>T p.Pro310Ser p.P310S ENST00000321545 NM_213598.3 310 Ccc/Tcc 0 -ZNF543 UCSF GRCh37 19 57840242 57840242 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 95 154 0 ENST00000321545.4:c.1412G>A p.Ser471Asn p.S471N ENST00000321545 NM_213598.3 471 aGc/aAc 0 -ZNF547 UCSF GRCh37 19 57888578 57888578 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 79 61 154 0 ENST00000282282.3:c.234G>A p.Lys78= p.K78= ENST00000282282 NM_173631.2 78 aaG/aaA 0 -ZNF554 UCSF GRCh37 19 2834661 2834661 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 86 145 0 ENST00000317243.5:c.1428G>A p.Arg476= p.R476= ENST00000317243 NM_001102651.1 476 agG/agA 0 -ZNF578 UCSF GRCh37 19 53014224 53014224 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 102 234 0 ENST00000421239.2:c.590C>T p.Ser197Phe p.S197F ENST00000421239 NM_001099694.1 197 tCt/tTt 0 -ZNF582 UCSF GRCh37 19 56895688 56895688 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 82 204 0 ENST00000301310.4:c.1098C>T p.Pro366= p.P366= ENST00000301310 NM_144690.1 366 ccC/ccT 0 -ZNF585A UCSF GRCh37 19 37643323 37643323 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 81 181 0 ENST00000292841.5:c.1313C>T p.Ser438Phe p.S438F ENST00000292841 NM_152655.2 438 tCt/tTt 0 -ZNF585B UCSF GRCh37 19 37677780 37677780 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 93 180 0 ENST00000532828.2:c.659G>A p.Gly220Glu p.G220E ENST00000532828 NM_152279.3 220 gGg/gAg 0 -ZNF592 UCSF GRCh37 15 85326624 85326624 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 113 84 177 0 ENST00000299927.3:c.718G>A p.Glu240Lys p.E240K ENST00000299927 240 Gaa/Aaa 0 -ZNF598 UCSF GRCh37 16 2049509 2049509 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 15 19 0 ENST00000431526.1:c.2041C>T p.Pro681Ser p.P681S ENST00000431526 681 Ccg/Tcg 0 -ZNF607 UCSF GRCh37 19 38189934 38189934 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 130 87 192 0 ENST00000355202.4:c.1098G>A p.Lys366= p.K366= ENST00000355202 NM_032689.4 366 aaG/aaA 0 -ZNF609 UCSF GRCh37 15 64973532 64973532 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 130 96 205 0 ENST00000326648.3:c.4187C>T p.Ala1396Val p.A1396V ENST00000326648 NM_015042.1 1396 gCc/gTc 0 -ZNF609 UCSF GRCh37 15 64967741 64967741 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 67 186 0 ENST00000326648.3:c.2688G>A p.Glu896= p.E896= ENST00000326648 NM_015042.1 896 gaG/gaA 0 -ZNF622 UCSF GRCh37 5 16465647 16465647 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 43 97 0 ENST00000308683.2:c.128C>T p.Thr43Ile p.T43I ENST00000308683 NM_033414.2 43 aCc/aTc 0 -ZNF623 UCSF GRCh37 8 144733633 144733633 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 264 60 116 0 ENST00000501748.2:c.1591G>A p.Glu531Lys p.E531K ENST00000501748 NM_014789.3 531 Gaa/Aaa 0 -ZNF623 UCSF GRCh37 8 144732450 144732450 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.309,1000g2011may_all_0.3611,snp132_rs3750204 P10_Rec Untested WXS Illumina HiSeq 352 85 183 0 ENST00000501748.2:c.408G>A p.Ser136= p.S136= ENST00000501748 NM_014789.3 136 tcG/tcA 0 -ZNF627 UCSF GRCh37 19 11727672 11727672 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 141 103 223 0 ENST00000361113.5:c.354G>A p.Arg118= p.R118= ENST00000361113 NM_145295.3 118 agG/agA 0 -ZNF639 UCSF GRCh37 3 179051833 179051833 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 116 206 0 ENST00000326361.3:c.1081C>T p.Leu361Phe p.L361F ENST00000326361 NM_016331.1 361 Ctc/Ttc 0 -ZNF645 UCSF GRCh37 X 22291520 22291520 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 89 183 0 ENST00000323684.1:c.412C>T p.His138Tyr p.H138Y ENST00000323684 NM_152577.3 138 Cat/Tat 0 -ZNF658 UCSF GRCh37 9 40773158 40773158 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 223 127 241 0 ENST00000602553.1:c.2117G>A p.Arg706Lys p.R706K ENST00000602553 706 aGa/aAa 0 -ZNF665 UCSF GRCh37 19 53668410 53668410 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 119 124 233 0 ENST00000600412.1:c.1138C>T p.Leu380= p.L380= ENST00000600412 380 Cta/Tta 0 -ZNF668 UCSF GRCh37 16 31075243 31075243 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 9 23 0 ENST00000394983.2:c.538C>T p.Pro180Ser p.P180S ENST00000394983 180 Cct/Tct 0 -ZNF668 UCSF GRCh37 16 31075703 31075703 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 33 94 0 ENST00000394983.2:c.78C>T p.Ser26= p.S26= ENST00000394983 26 tcC/tcT 0 -ZNF700 UCSF GRCh37 19 12060846 12060846 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 119 197 0 ENST00000254321.5:c.2007G>A p.Lys669= p.K669= ENST00000254321 NM_144566.2 669 aaG/aaA 0 -ZNF711 UCSF GRCh37 X 84526171 84526171 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 51 133 0 ENST00000276123.3:c.1623G>A p.Arg541= p.R541= ENST00000276123 541 agG/agA 0 -ZNF749 UCSF GRCh37 19 57953330 57953330 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 129 120 207 0 ENST00000334181.4:c.93C>T p.His31= p.H31= ENST00000334181 NM_001023561.2 31 caC/caT 0 -ZNF750 UCSF GRCh37 17 80789491 80789491 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 62 124 0 ENST00000269394.3:c.840C>T p.Asp280= p.D280= ENST00000269394 NM_024702.2 280 gaC/gaT 0 -ZNF76 UCSF GRCh37 6 35255438 35255438 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 51 113 0 ENST00000373953.3:c.248G>A p.Ser83Asn p.S83N ENST00000373953 NM_003427.3 83 aGc/aAc 0 -ZNF761 UCSF GRCh37 19 53958841 53958841 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 149 128 221 0 ENST00000454407.1:n.1533C>T *511* ENST00000454407 0 -ZNF764 UCSF GRCh37 16 30569472 30569472 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 15 23 0 ENST00000252797.2:c.32G>A p.Arg11Gln p.R11Q ENST00000252797 NM_033410.3 11 cGg/cAg 0 -ZNF766 UCSF GRCh37 19 52793879 52793879 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 93 195 0 ENST00000439461.1:c.835G>A p.Val279Ile p.V279I ENST00000439461 NM_001010851.2 279 Gtc/Atc 0 -ZNF770 UCSF GRCh37 15 35273889 35273889 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 101 221 0 ENST00000356321.4:c.1747G>A p.Glu583Lys p.E583K ENST00000356321 NM_014106.3 583 Gag/Aag 0 -ZNF770 UCSF GRCh37 15 35274604 35274604 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 28 94 0 ENST00000356321.4:c.1032G>A p.Lys344= p.K344= ENST00000356321 NM_014106.3 344 aaG/aaA 0 -ZNF777 UCSF GRCh37 7 149129924 149129924 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 21 26 0 ENST00000247930.4:c.1439G>A p.Gly480Glu p.G480E ENST00000247930 NM_015694.2 480 gGg/gAg 0 -ZNF777 UCSF GRCh37 7 149153033 149153033 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 61 128 0 ENST00000247930.4:c.81C>T p.Leu27= p.L27= ENST00000247930 NM_015694.2 27 ctC/ctT 0 -ZNF804A UCSF GRCh37 2 185803266 185803266 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 103 190 0 ENST00000302277.6:c.3143C>T p.Pro1048Leu p.P1048L ENST00000302277 NM_194250.1 1048 cCa/cTa 0 -ZNF804A UCSF GRCh37 2 185802611 185802611 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 88 204 0 ENST00000302277.6:c.2488G>A p.Glu830Lys p.E830K ENST00000302277 NM_194250.1 830 Gaa/Aaa 0 -ZNF808 UCSF GRCh37 19 53057091 53057091 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 158 133 271 0 ENST00000359798.4:c.922C>T p.Leu308Phe p.L308F ENST00000359798 NM_001039886.3 308 Ctt/Ttt 0 -ZNF812 UCSF GRCh37 19 9801409 9801409 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 61 194 0 ENST00000457674.2:c.770C>T p.Ser257Phe p.S257F ENST00000457674 NM_001199814.1 257 tCc/tTc 0 -ZNF814 UCSF GRCh37 19 58384320 58384320 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 125 109 223 0 ENST00000435989.2:c.2438C>T p.Ser813Phe p.S813F ENST00000435989 NM_001144989.1 813 tCc/tTc 0 -ZNF814 UCSF GRCh37 19 58386317 58386317 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 83 254 0 ENST00000435989.2:c.441C>T p.Pro147= p.P147= ENST00000435989 NM_001144989.1 147 ccC/ccT 0 -ZNF828 UCSF GRCh37 13 115090865 115090865 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 144 143 224 0 ENST00000361283.1:c.1548G>A p.Lys516= p.K516= ENST00000361283 NM_032436.2 516 aaG/aaA 0 -ZNF839 UCSF GRCh37 14 102807822 102807822 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 51 135 0 ENST00000558850.1:c.1742C>T p.Ser581Phe p.S581F ENST00000558850 NM_001267827.1 581 tCc/tTc 0 -ZNF878 UCSF GRCh37 19 12155717 12155717 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 154 125 231 0 ENST00000547628.1:c.499G>A p.Ala167Thr p.A167T ENST00000547628 NM_001080404.2 167 Gca/Aca 0 -ZNHIT6 UCSF GRCh37 1 86173894 86173894 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 64 146 0 ENST00000370574.3:c.74G>A p.Ser25Asn p.S25N ENST00000370574 25 aGt/aAt 0 -ZNRF3 UCSF GRCh37 22 29438558 29438558 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 37 68 0 ENST00000544604.2:c.501+1G>A p.X167_splice ENST00000544604 NM_001206998.1 0 -ZNRF3 UCSF GRCh37 22 29445444 29445444 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 47 67 0 ENST00000544604.2:c.1275C>T p.Asp425= p.D425= ENST00000544604 NM_001206998.1 425 gaC/gaT 0 -ZP2 UCSF GRCh37 16 21212793 21212793 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 79 158 0 ENST00000574002.1:c.1591C>T p.Leu531= p.L531= ENST00000574002 531 Cta/Tta 0 -ZP4 UCSF GRCh37 1 238053862 238053862 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 53 119 0 ENST00000366570.4:c.74C>T p.Ala25Val p.A25V ENST00000366570 NM_021186.3 25 gCa/gTa 0 -ZSCAN20 UCSF GRCh37 1 33961067 33961067 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 43 90 0 ENST00000361328.3:c.3123G>A p.Lys1041= p.K1041= ENST00000361328 NM_145238.3 1041 aaG/aaA 0 -ZSCAN29 UCSF GRCh37 15 43654045 43654045 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 76 184 0 ENST00000396976.2:c.1785G>A p.Arg595= p.R595= ENST00000396976 NM_152455.3 595 agG/agA 0 -ZSWIM6 UCSF GRCh37 5 60839601 60839601 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 69 130 0 ENST00000252744.5:c.3105G>A p.Arg1035= p.R1035= ENST00000252744 NM_020928.1 1035 cgG/cgA 0 -ARID2 UCSF GRCh37 12 46242691 46242691 + synonymous_variant Silent SNP G G C NOVEL P11_Pri Untested WXS Illumina HiSeq 90 67 110 0 ENST00000334344.6:c.1653G>C p.Ser551= p.S551= ENST00000334344 NM_152641.2 551 tcG/tcC 0 -ATRX UCSF GRCh37 X 76938945 76938951 + frameshift_variant Frame_Shift_Del DEL TTTAATT TTTAATT - NOVEL P11_Pri Untested WXS Illumina HiSeq 88 0 ENST00000373344.5:c.1797_1803del p.Ile600ValfsTer19 p.I600Vfs*19 ENST00000373344 NM_000489.3 599 ccAATTAAA/cc 0 -CFTR UCSF GRCh37 7 117171029 117171029 + missense_variant Missense_Mutation SNP G G A snp132_rs78655421 P11_Pri Untested WXS Illumina HiSeq 49 39 82 0 ENST00000003084.6:c.350G>A p.Arg117His p.R117H ENST00000003084 NM_000492.3 117 cGc/cAc 0 -DDR1 UCSF GRCh37 6 30865364 30865364 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Pri Untested WXS Illumina HiSeq 33 17 42 0 ENST00000324771.8:c.2206C>T p.Pro736Ser p.P736S ENST00000324771 736 Ccc/Tcc 0 -DUX2 UCSF GRCh37 4 190989798 190989798 + non_coding_transcript_exon_variant RNA SNP G G C NOVEL P11_Pri Untested WXS Illumina HiSeq 14 4 26 1 ENST00000536428.1:n.1003G>C *335* ENST00000536428 0 -FLT4 UCSF GRCh37 5 180038348 180038348 + synonymous_variant Silent SNP G G A NOVEL P11_Pri Untested WXS Illumina HiSeq 55 25 60 0 ENST00000261937.6:c.3669C>T p.Arg1223= p.R1223= ENST00000261937 NM_182925.4 1223 cgC/cgT 0 -GOLGA1 UCSF GRCh37 9 127651492 127651492 + missense_variant Missense_Mutation SNP G G A NOVEL P11_Pri Untested WXS Illumina HiSeq 34 6 44 0 ENST00000373555.4:c.1691C>T p.Ala564Val p.A564V ENST00000373555 NM_002077.3 564 gCg/gTg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Pri Untested WXS Illumina HiSeq 97 70 123 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KIAA1958 UCSF GRCh37 9 115336728 115336728 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Pri Untested WXS Illumina HiSeq 81 70 148 0 ENST00000337530.6:c.368C>T p.Ser123Phe p.S123F ENST00000337530 NM_001287038.1 123 tCc/tTc 0 -KIAA2026 UCSF GRCh37 9 5920588 5920588 + missense_variant Missense_Mutation SNP G G T NOVEL P11_Pri Untested WXS Illumina HiSeq 193 40 352 0 ENST00000399933.3:c.5408C>A p.Thr1803Lys p.T1803K ENST00000399933 NM_001017969.2 1803 aCa/aAa 0 -MADCAM1 UCSF GRCh37 19 501701 501701 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.144,1000g2011may_all_0.1863,snp132_rs72970252 P11_Pri Untested WXS Illumina HiSeq 50 7 44 1 ENST00000215637.3:c.700G>A p.Asp234Asn p.D234N ENST00000215637 NM_130760.2 234 Gac/Aac 0 -MKI67 UCSF GRCh37 10 129904284 129904284 + synonymous_variant Silent SNP C C T NOVEL P11_Pri Untested WXS Illumina HiSeq 115 44 236 0 ENST00000368654.3:c.5820G>A p.Arg1940= p.R1940= ENST00000368654 NM_002417.4 1940 cgG/cgA 0 -MYO10 UCSF GRCh37 5 16711041 16711041 + synonymous_variant Silent SNP G G A NOVEL P11_Pri Untested WXS Illumina HiSeq 98 24 118 0 ENST00000513610.1:c.2145C>T p.Ser715= p.S715= ENST00000513610 NM_012334.2 715 agC/agT 0 -NYNRIN UCSF GRCh37 14 24878453 24878453 + missense_variant Missense_Mutation SNP T T C NOVEL P11_Pri Untested WXS Illumina HiSeq 61 27 87 0 ENST00000382554.3:c.1453T>C p.Ser485Pro p.S485P ENST00000382554 NM_025081.2 485 Tct/Cct 0 -PHKA2 UCSF GRCh37 X 18924630 18924630 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Pri Untested WXS Illumina HiSeq 25 26 78 0 ENST00000379942.4:c.2789G>A p.Arg930Gln p.R930Q ENST00000379942 NM_000292.2 930 cGg/cAg 0 -PKD1L1 UCSF GRCh37 7 47913571 47913571 + synonymous_variant Silent SNP G G A NOVEL P11_Pri Untested WXS Illumina HiSeq 31 29 45 0 ENST00000289672.2:c.3822C>T p.Ser1274= p.S1274= ENST00000289672 NM_138295.3 1274 tcC/tcT 0 -PLCH1 UCSF GRCh37 3 155200415 155200415 + missense_variant Missense_Mutation SNP T T C NOVEL P11_Pri Untested WXS Illumina HiSeq 104 15 107 0 ENST00000340059.7:c.3424A>G p.Arg1142Gly p.R1142G ENST00000340059 NM_001130960.1 1142 Agg/Ggg 0 -PTCRA UCSF GRCh37 6 42893351 42893351 + synonymous_variant Silent SNP T T G NOVEL P11_Pri Untested WXS Illumina HiSeq 12 15 27 0 ENST00000304672.1:c.777T>G p.Ala259= p.A259= ENST00000304672 NM_001243168.1 259 gcT/gcG 0 -RGS5 UCSF GRCh37 1 163138051 163138051 + missense_variant Missense_Mutation SNP T T A NOVEL P11_Pri Untested WXS Illumina HiSeq 105 34 171 0 ENST00000313961.5:c.152A>T p.Gln51Leu p.Q51L ENST00000313961 NM_003617.3 51 cAg/cTg 0 -SIDT2 UCSF GRCh37 11 117060735 117060735 + missense_variant Missense_Mutation SNP A A G NOVEL P11_Pri Untested WXS Illumina HiSeq 54 35 122 0 ENST00000324225.4:c.1487A>G p.Asn496Ser p.N496S ENST00000324225 NM_001040455.1 496 aAt/aGt 0 -SLAMF1 UCSF GRCh37 1 160589601 160589601 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P11_Pri Untested WXS Illumina HiSeq 6 0 ENST00000302035.6:c.829delA p.Ser277AlafsTer54 p.S277Afs*54 ENST00000302035 NM_003037.2 277 Agc/gc 0 -SLX4 UCSF GRCh37 16 3633500 3633500 + missense_variant Missense_Mutation SNP C C A NOVEL P11_Pri Untested WXS Illumina HiSeq 77 10 85 0 ENST00000294008.3:c.4751G>T p.Arg1584Leu p.R1584L ENST00000294008 NM_032444.2 1584 cGc/cTc 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P11_Pri Untested WXS Illumina HiSeq 11 71 50 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TXNDC3 UCSF GRCh37 7 37936603 37936603 + missense_variant Missense_Mutation SNP G G T NOVEL P11_Pri Untested WXS Illumina HiSeq 88 23 143 0 ENST00000199447.4:c.1676G>T p.Ser559Ile p.S559I ENST00000199447 NM_016616.4 559 aGt/aTt 0 -UNC5C UCSF GRCh37 4 96104084 96104084 + synonymous_variant Silent SNP T T C NOVEL P11_Pri Untested WXS Illumina HiSeq 91 62 153 0 ENST00000453304.1:c.2415A>G p.Glu805= p.E805= ENST00000453304 NM_003728.3 805 gaA/gaG 0 -WASH1 UCSF GRCh37 9 16967 16967 + splice_region_variant,non_coding_transcript_exon_variant Splice_Region SNP A A G 1000g2011may_all_0.2384,snp132_rs17857353 P11_Pri Untested WXS Illumina HiSeq 42 7 40 0 ENST00000442898.2:n.1024T>C p.X342_splice ENST00000442898 0 -ZNF483 UCSF GRCh37 9 114304413 114304413 + missense_variant Missense_Mutation SNP A A C NOVEL P11_Pri Untested WXS Illumina HiSeq 120 102 195 0 ENST00000309235.5:c.1198A>C p.Ile400Leu p.I400L ENST00000309235 NM_133464.2 400 Att/Ctt 0 -ALDH3B1 UCSF GRCh37 11 67795299 67795299 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.237,1000g2011may_all_0.3285,snp132_rs308341 P11_Rec Untested WXS Illumina HiSeq 5 11 8 0 ENST00000342456.6:c.1185G>A p.Pro395= p.P395= ENST00000342456 NM_001030010.1 395 ccG/ccA 0 -APOF UCSF GRCh37 12 56755364 56755364 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P11_Rec Untested WXS Illumina HiSeq 10 0 ENST00000398189.3:c.626del p.Lys209ArgfsTer11 p.K209Rfs*11 ENST00000398189 NM_001638.2 209 aAg/ag 0 -ARID2 UCSF GRCh37 12 46242691 46242691 + synonymous_variant Silent SNP G G C NOVEL P11_Rec Untested WXS Illumina HiSeq 75 42 110 0 ENST00000334344.6:c.1653G>C p.Ser551= p.S551= ENST00000334344 NM_152641.2 551 tcG/tcC 0 -ATRX UCSF GRCh37 X 76938945 76938951 + frameshift_variant Frame_Shift_Del DEL TTTAATT TTTAATT - NOVEL P11_Rec Untested WXS Illumina HiSeq 65 0 ENST00000373344.5:c.1797_1803del p.Ile600ValfsTer19 p.I600Vfs*19 ENST00000373344 NM_000489.3 599 ccAATTAAA/cc 0 -C7orf57 UCSF GRCh37 7 48080945 48080945 + missense_variant Missense_Mutation SNP G G A NOVEL P11_Rec Untested WXS Illumina HiSeq 102 15 115 1 ENST00000348904.3:c.70G>A p.Val24Ile p.V24I ENST00000348904 NM_001100159.2 24 Gtc/Atc 0 -CFTR UCSF GRCh37 7 117171029 117171029 + missense_variant Missense_Mutation SNP G G A snp132_rs78655421 P11_Rec Untested WXS Illumina HiSeq 62 26 82 0 ENST00000003084.6:c.350G>A p.Arg117His p.R117H ENST00000003084 NM_000492.3 117 cGc/cAc 0 -CLIP1 UCSF GRCh37 12 122758571 122758599 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TTCATATGAAATACCTGTCATAATTGTTT TTCATATGAAATACCTGTCATAATTGTTT - NOVEL P11_Rec Untested WXS Illumina HiSeq 6 0 ENST00000540338.1:c.4077_4091+14del p.X1359_splice ENST00000540338 1359 0 -CREG2 UCSF GRCh37 2 101971731 101971731 + missense_variant Missense_Mutation SNP G G T NOVEL P11_Rec Untested WXS Illumina HiSeq 72 12 52 1 ENST00000324768.5:c.709C>A p.Gln237Lys p.Q237K ENST00000324768 NM_153836.3 237 Caa/Aaa 0 -CROCC UCSF GRCh37 1 17272075 17272075 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.064,1000g2011may_all_0.0426,snp132_rs2781608 P11_Rec Untested WXS Illumina HiSeq 15 4 26 1 ENST00000375541.5:c.2110G>A p.Ala704Thr p.A704T ENST00000375541 NM_014675.3 704 Gcc/Acc 0 -CYP21A2 UCSF GRCh37 6 31975463 31975463 + non_coding_transcript_exon_variant RNA SNP T T C 1000g2011may_all_0.0497,snp132_rs7755898 P11_Rec Untested WXS Illumina HiSeq 18 4 12 0 ENST00000342991.6:n.1386T>C *462* ENST00000342991 0 -DDR1 UCSF GRCh37 6 30865364 30865364 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Rec Untested WXS Illumina HiSeq 39 28 42 0 ENST00000324771.8:c.2206C>T p.Pro736Ser p.P736S ENST00000324771 736 Ccc/Tcc 0 -DEFB126 UCSF GRCh37 20 126310 126311 + frameshift_variant Frame_Shift_Del DEL AC AC - NOVEL P11_Rec Untested WXS Illumina HiSeq 6 0 ENST00000382398.3:c.313_314del p.Thr105ProfsTer? p.T105Pfs*? ENST00000382398 NM_030931.3 105 ACc/c 0 -FLT4 UCSF GRCh37 5 180038348 180038348 + synonymous_variant Silent SNP G G A NOVEL P11_Rec Untested WXS Illumina HiSeq 51 22 60 0 ENST00000261937.6:c.3669C>T p.Arg1223= p.R1223= ENST00000261937 NM_182925.4 1223 cgC/cgT 0 -GGTLC1 UCSF GRCh37 20 23967157 23967157 + missense_variant Missense_Mutation SNP A A G NOVEL P11_Rec Untested WXS Illumina HiSeq 37 12 53 0 ENST00000278765.4:c.92T>C p.Met31Thr p.M31T ENST00000278765 NM_178312.2 31 aTg/aCg 0 -GNRH2 UCSF GRCh37 20 3026346 3026347 + frameshift_variant Frame_Shift_Ins INS - - GCCCC NOVEL P11_Rec Untested WXS Illumina HiSeq 6 0 ENST00000245983.2:c.327_328insGCCCC p.Pro110AlafsTer? p.P110Afs*? ENST00000245983 NM_001501.1 109 -/GCCCC 0 -GPRC5B UCSF GRCh37 16 19883854 19883854 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Rec Untested WXS Illumina HiSeq 50 8 46 0 ENST00000300571.2:c.314G>A p.Gly105Asp p.G105D ENST00000300571 NM_016235.1 105 gGc/gAc 0 -HLA-A UCSF GRCh37 6 29910572 29910572 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.067,1000g2011may_all_0.0966,snp132_rs114101108 P11_Rec Untested WXS Illumina HiSeq 26 5 38 0 ENST00000396634.1:c.112C>T p.Arg38Trp p.R38W ENST00000396634 38 Cgg/Tgg 0 -HLA-A UCSF GRCh37 6 29910558 29910558 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.473,1000g2011may_all_0.5687,snp132_rs112039894 P11_Rec Untested WXS Illumina HiSeq 19 4 37 1 ENST00000396634.1:c.98T>C p.Phe33Ser p.F33S ENST00000396634 33 tTc/tCc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Rec Untested WXS Illumina HiSeq 100 60 123 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KBTBD6 UCSF GRCh37 13 41704817 41704820 + frameshift_variant Frame_Shift_Del DEL AGTT AGTT - NOVEL P11_Rec Untested WXS Illumina HiSeq 7 0 ENST00000379485.1:c.1828_1831del p.Asn610PhefsTer36 p.N610Ffs*36 ENST00000379485 NM_152903.4 610 AACTtt/tt 0 -KIAA1958 UCSF GRCh37 9 115336728 115336728 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Rec Untested WXS Illumina HiSeq 92 60 148 0 ENST00000337530.6:c.368C>T p.Ser123Phe p.S123F ENST00000337530 NM_001287038.1 123 tCc/tTc 0 -KIAA2026 UCSF GRCh37 9 5920588 5920588 + missense_variant Missense_Mutation SNP G G T NOVEL P11_Rec Untested WXS Illumina HiSeq 231 37 352 0 ENST00000399933.3:c.5408C>A p.Thr1803Lys p.T1803K ENST00000399933 NM_001017969.2 1803 aCa/aAa 0 -MIS18BP1 UCSF GRCh37 14 45716019 45716020 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P11_Rec Untested WXS Illumina HiSeq 6 0 ENST00000310806.4:c.471dup p.Leu158IlefsTer8 p.L158Ifs*8 ENST00000310806 NM_018353.4 157 aaa/aaAa 0 -MKI67 UCSF GRCh37 10 129904284 129904284 + synonymous_variant Silent SNP C C T NOVEL P11_Rec Untested WXS Illumina HiSeq 157 34 236 0 ENST00000368654.3:c.5820G>A p.Arg1940= p.R1940= ENST00000368654 NM_002417.4 1940 cgG/cgA 0 -MST1 UCSF GRCh37 3 49723545 49723545 + 3_prime_UTR_variant 3'UTR SNP G G A snp132_rs4052562 P11_Rec Untested WXS Illumina HiSeq 32 6 25 1 ENST00000383728.3:c.*197C>T *66* ENST00000383728 0 -MST1 UCSF GRCh37 3 49723542 49723542 + 3_prime_UTR_variant 3'UTR SNP G G C snp132_rs2087732 P11_Rec Untested WXS Illumina HiSeq 33 6 25 1 ENST00000383728.3:c.*200C>G *67* ENST00000383728 0 -MYO10 UCSF GRCh37 5 16711041 16711041 + synonymous_variant Silent SNP G G A NOVEL P11_Rec Untested WXS Illumina HiSeq 125 24 118 0 ENST00000513610.1:c.2145C>T p.Ser715= p.S715= ENST00000513610 NM_012334.2 715 agC/agT 0 -NBPF4 UCSF GRCh37 1 108769307 108769307 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.062,1000g2011may_all_0.2082,snp132_rs2582071 P11_Rec Untested WXS Illumina HiSeq 72 10 79 1 ENST00000415641.3:c.1869C>T p.Ser623= p.S623= ENST00000415641 NM_001143989.2 623 agC/agT 0 -NYNRIN UCSF GRCh37 14 24878453 24878453 + missense_variant Missense_Mutation SNP T T C NOVEL P11_Rec Untested WXS Illumina HiSeq 86 37 87 0 ENST00000382554.3:c.1453T>C p.Ser485Pro p.S485P ENST00000382554 NM_025081.2 485 Tct/Cct 0 -PEAK1 UCSF GRCh37 15 77473938 77473939 + frameshift_variant Frame_Shift_Del DEL AG AG - NOVEL P11_Rec Untested WXS Illumina HiSeq 7 0 ENST00000312493.4:c.330_331del p.Leu111GlufsTer6 p.L111Efs*6 ENST00000312493 NM_024776.3 110 gcCTtg/gctg 0 -PHKA2 UCSF GRCh37 X 18924630 18924630 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Rec Untested WXS Illumina HiSeq 56 37 78 0 ENST00000379942.4:c.2789G>A p.Arg930Gln p.R930Q ENST00000379942 NM_000292.2 930 cGg/cAg 0 -PKD1L1 UCSF GRCh37 7 47913571 47913571 + synonymous_variant Silent SNP G G A NOVEL P11_Rec Untested WXS Illumina HiSeq 32 25 45 0 ENST00000289672.2:c.3822C>T p.Ser1274= p.S1274= ENST00000289672 NM_138295.3 1274 tcC/tcT 0 -PTCRA UCSF GRCh37 6 42893351 42893351 + synonymous_variant Silent SNP T T G NOVEL P11_Rec Untested WXS Illumina HiSeq 17 9 27 0 ENST00000304672.1:c.777T>G p.Ala259= p.A259= ENST00000304672 NM_001243168.1 259 gcT/gcG 0 -RGS5 UCSF GRCh37 1 163138051 163138051 + missense_variant Missense_Mutation SNP T T A NOVEL P11_Rec Untested WXS Illumina HiSeq 129 29 171 0 ENST00000313961.5:c.152A>T p.Gln51Leu p.Q51L ENST00000313961 NM_003617.3 51 cAg/cTg 0 -SIDT2 UCSF GRCh37 11 117060735 117060735 + missense_variant Missense_Mutation SNP A A G NOVEL P11_Rec Untested WXS Illumina HiSeq 84 48 122 0 ENST00000324225.4:c.1487A>G p.Asn496Ser p.N496S ENST00000324225 NM_001040455.1 496 aAt/aGt 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P11_Rec Untested WXS Illumina HiSeq 26 58 50 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TPSAB1 UCSF GRCh37 16 1291639 1291639 + synonymous_variant Silent SNP A A G snp132_rs1064783 P11_Rec Untested WXS Illumina HiSeq 75 9 60 1 ENST00000338844.3:c.438A>G p.Ser146= p.S146= ENST00000338844 NM_003294.3 146 tcA/tcG 0 -UNC5C UCSF GRCh37 4 96104084 96104084 + synonymous_variant Silent SNP T T C NOVEL P11_Rec Untested WXS Illumina HiSeq 107 35 153 0 ENST00000453304.1:c.2415A>G p.Glu805= p.E805= ENST00000453304 NM_003728.3 805 gaA/gaG 0 -WDR81 UCSF GRCh37 17 1637482 1637482 + synonymous_variant Silent SNP G G T NOVEL P11_Rec Untested WXS Illumina HiSeq 29 4 27 0 ENST00000409644.1:c.5151G>T p.Gly1717= p.G1717= ENST00000409644 NM_001163809.1 1717 ggG/ggT 0 -ZNF483 UCSF GRCh37 9 114304413 114304413 + missense_variant Missense_Mutation SNP A A C NOVEL P11_Rec Untested WXS Illumina HiSeq 180 95 195 0 ENST00000309235.5:c.1198A>C p.Ile400Leu p.I400L ENST00000309235 NM_133464.2 400 Att/Ctt 0 -ASB5 UCSF GRCh37 4 177142715 177142715 + missense_variant Missense_Mutation SNP A A G NOVEL P12_Pri somatic WXS Sanger Illumina HiSeq 97 86 133 0 ENST00000296525.3:c.421T>C p.Phe141Leu p.F141L ENST00000296525 NM_080874.3 141 Ttc/Ctc 0 -ATRX UCSF GRCh37 X 76939908 76939920 + frameshift_variant Frame_Shift_Del DEL ACATGCAGTGACC ACATGCAGTGACC - NOVEL P12_Pri Untested WXS Illumina HiSeq 116 0 ENST00000373344.5:c.828_840del p.Val277ThrfsTer7 p.V277Tfs*7 ENST00000373344 NM_000489.3 276 ttGGTCACTGCATGT/tt 0 -C7orf57 UCSF GRCh37 7 48086205 48086205 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P12_Pri Untested WXS Illumina HiSeq 6 0 ENST00000348904.3:c.506del p.Lys169SerfsTer2 p.K169Sfs*2 ENST00000348904 NM_001100159.2 167 Aaa/aa 0 -CAMT-ND1 UCSF GRCh37 12 67686492 67686492 + synonymous_variant Silent SNP A A G NOVEL P12_Pri Untested WXS Illumina HiSeq 129 94 156 0 ENST00000545606.1:c.303A>G p.Gln101= p.Q101= ENST00000545606 NM_018448.3 101 caA/caG 0 -CHST8 UCSF GRCh37 19 34263267 34263267 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Pri somatic WXS Sanger Illumina HiSeq 8 9 63 0 ENST00000262622.4:c.574G>A p.Val192Met p.V192M ENST00000262622 NM_022467.3 192 Gtg/Atg 0 -COL6A3 UCSF GRCh37 2 238253159 238253159 + missense_variant Missense_Mutation SNP C C T NOVEL P12_Pri Untested WXS Illumina HiSeq 123 98 164 0 ENST00000295550.4:c.7502G>A p.Arg2501His p.R2501H ENST00000295550 NM_004369.3 2501 cGt/cAt 0 -DGAT2L6 UCSF GRCh37 X 69424267 69424268 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P12_Pri Untested WXS Illumina HiSeq 39 0 ENST00000333026.3:c.766dup p.Ile256AsnfsTer42 p.I256Nfs*42 ENST00000333026 NM_198512.1 254 aaa/aAaa 0 -DNMT1 UCSF GRCh37 19 10270707 10270742 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region DEL ACTGTTTTGGCGCGAGCCATTTTTTTCTCCGTTCTG ACTGTTTTGGCGCGAGCCATTTTTTTCTCCGTTCTG TTTGTTTGGGCGGGAGCCATTTTTTTCTCCGTTCT NOVEL P12_Pri Untested WXS Illumina HiSeq 6 0 ENST00000340748.4:c.996-3_1028delinsAGAACGGAGAAAAAAATGGCTCCCGCCCAAACAAA p.X332_splice ENST00000340748 0 -FAF2 UCSF GRCh37 5 175927025 175927025 + missense_variant Missense_Mutation SNP A A G NOVEL P12_Pri somatic WXS Sanger Illumina HiSeq 102 67 142 0 ENST00000261942.6:c.1033A>G p.Arg345Gly p.R345G ENST00000261942 NM_014613.2 345 Agg/Ggg 0 -GPC2 UCSF GRCh37 7 99773267 99773267 + synonymous_variant Silent SNP G G C NOVEL P12_Pri somatic WXS Sanger Illumina HiSeq 41 33 71 0 ENST00000292377.2:c.576C>G p.Leu192= p.L192= ENST00000292377 NM_152742.1 192 ctC/ctG 0 -IARS UCSF GRCh37 9 95040528 95040528 + synonymous_variant Silent SNP T T C NOVEL P12_Pri Untested WXS Illumina HiSeq 143 113 180 0 ENST00000375643.3:c.786A>G p.Arg262= p.R262= ENST00000375643 NM_013417.3 262 agA/agG 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P12_Pri somatic WXS Sanger Illumina HiSeq 91 85 125 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KIF25 UCSF GRCh37 6 168430348 168430348 + missense_variant Missense_Mutation SNP A A T 1000g2010nov_all_0.200,1000g2011may_all_0.2270,snp132_rs4708626 P12_Pri Untested WXS Illumina HiSeq 87 10 75 1 ENST00000354419.2:c.83A>T p.Lys28Met p.K28M ENST00000354419 NM_030615.2 28 aAg/aTg 0 -ODZ4 UCSF GRCh37 11 78437125 78437125 + splice_region_variant,synonymous_variant Splice_Region SNP A A G NOVEL P12_Pri Untested WXS Illumina HiSeq 208 105 203 0 ENST00000278550.7:c.3549T>C p.Ser1183= p.S1183= ENST00000278550 NM_001098816.2 1183 agT/agC 0 -PI4KA UCSF GRCh37 22 21065645 21065645 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.330,1000g2011may_all_0.3814,snp132_rs1135934 P12_Pri Untested WXS Illumina HiSeq 33 4 34 1 ENST00000255882.6:c.5907T>C p.Gly1969= p.G1969= ENST00000255882 NM_058004.3 1969 ggT/ggC 0 -PIEZO2 UCSF GRCh37 18 10758061 10758061 + stop_gained Nonsense_Mutation SNP G G A NOVEL P12_Pri Untested WXS Illumina HiSeq 136 101 193 0 ENST00000503781.3:c.3754C>T p.Arg1252Ter p.R1252* ENST00000503781 NM_022068.2 1252 Cga/Tga 0 -PMEL UCSF GRCh37 12 56351767 56351767 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Pri Untested WXS Illumina HiSeq 91 63 132 0 ENST00000548493.1:c.571C>T p.Arg191Cys p.R191C ENST00000548493 191 Cgc/Tgc 0 -SAG UCSF GRCh37 2 234224735 234224735 + synonymous_variant Silent SNP G G C NOVEL P12_Pri Untested WXS Illumina HiSeq 91 50 147 0 ENST00000409110.1:c.90G>C p.Leu30= p.L30= ENST00000409110 NM_000541.4 30 ctG/ctC 0 -SEZ6L2 UCSF GRCh37 16 29900024 29900024 + synonymous_variant Silent SNP G G A NOVEL P12_Pri Untested WXS Illumina HiSeq 48 10 41 1 ENST00000308713.5:c.876C>T p.Phe292= p.F292= ENST00000308713 NM_001114099.2 292 ttC/ttT 0 -SLC38A4 UCSF GRCh37 12 47186817 47186817 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Pri Untested WXS Illumina HiSeq 135 78 178 0 ENST00000266579.4:c.38C>T p.Pro13Leu p.P13L ENST00000266579 NM_018018.4 13 cCa/cTa 0 -SLC7A2 UCSF GRCh37 8 17401018 17401018 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Pri Untested WXS Illumina HiSeq 82 70 103 0 ENST00000494857.1:c.170G>A p.Gly57Glu p.G57E ENST00000494857 NM_001008539.3 57 gGg/gAg 0 -TP53 UCSF GRCh37 17 7578406 7578406 + missense_variant Missense_Mutation SNP C C T snp132_rs28934578 P12_Pri somatic WXS Sanger Illumina HiSeq 10 100 87 0 ENST00000269305.4:c.524G>A p.Arg175His p.R175H ENST00000269305 NM_001126112.2 175 cGc/cAc 0 -ADAM20 UCSF GRCh37 14 70990780 70990780 + missense_variant Missense_Mutation SNP T T C NOVEL P12_Rec Untested WXS Illumina HiSeq 61 92 164 0 ENST00000256389.3:c.845A>G p.His282Arg p.H282R ENST00000256389 NM_003814.4 282 cAt/cGt 0 -ASB5 UCSF GRCh37 4 177142715 177142715 + missense_variant Missense_Mutation SNP A A G NOVEL P12_Rec somatic WXS Sanger Illumina HiSeq 101 70 133 0 ENST00000296525.3:c.421T>C p.Phe141Leu p.F141L ENST00000296525 NM_080874.3 141 Ttc/Ctc 0 -ATP8B1 UCSF GRCh37 18 55315829 55315829 + missense_variant Missense_Mutation SNP C C G NOVEL P12_Rec Untested WXS Illumina HiSeq 28 6 35 0 ENST00000283684.4:c.3647G>C p.Gly1216Ala p.G1216A ENST00000283684 1216 gGc/gCc 0 -ATP8B1 UCSF GRCh37 18 55315832 55315832 + missense_variant Missense_Mutation SNP C C A NOVEL P12_Rec Untested WXS Illumina HiSeq 25 7 34 0 ENST00000283684.4:c.3644G>T p.Arg1215Leu p.R1215L ENST00000283684 1215 cGg/cTg 0 -ATRX UCSF GRCh37 X 76939908 76939920 + frameshift_variant Frame_Shift_Del DEL ACATGCAGTGACC ACATGCAGTGACC - NOVEL P12_Rec Untested WXS Illumina HiSeq 86 0 ENST00000373344.5:c.828_840del p.Val277ThrfsTer7 p.V277Tfs*7 ENST00000373344 NM_000489.3 276 ttGGTCACTGCATGT/tt 0 -B3GNT3 UCSF GRCh37 19 17922618 17922618 + missense_variant Missense_Mutation SNP G G C NOVEL P12_Rec Untested WXS Illumina HiSeq 79 141 113 0 ENST00000318683.6:c.806G>C p.Gly269Ala p.G269A ENST00000318683 NM_014256.3 269 gGg/gCg 0 -CACNA1E UCSF GRCh37 1 181686272 181686272 + synonymous_variant Silent SNP C C T NOVEL P12_Rec Untested WXS Illumina HiSeq 137 124 155 0 ENST00000367573.2:c.1359C>T p.Asp453= p.D453= ENST00000367573 NM_001205293.1 453 gaC/gaT 0 -COL6A3 UCSF GRCh37 2 238253159 238253159 + missense_variant Missense_Mutation SNP C C T NOVEL P12_Rec Untested WXS Illumina HiSeq 124 86 164 0 ENST00000295550.4:c.7502G>A p.Arg2501His p.R2501H ENST00000295550 NM_004369.3 2501 cGt/cAt 0 -DGAT2L6 UCSF GRCh37 X 69424267 69424268 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P12_Rec Untested WXS Illumina HiSeq 30 0 ENST00000333026.3:c.766dup p.Ile256AsnfsTer42 p.I256Nfs*42 ENST00000333026 NM_198512.1 254 aaa/aAaa 0 -EVX2 UCSF GRCh37 2 176945393 176945393 + synonymous_variant Silent SNP G G A NOVEL P12_Rec Untested WXS Illumina HiSeq 7 10 14 0 ENST00000308618.4:c.873C>T p.Gly291= p.G291= ENST00000308618 NM_001080458.1 291 ggC/ggT 0 -GFPT2 UCSF GRCh37 5 179755331 179755331 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Rec Untested WXS Illumina HiSeq 119 20 56 0 ENST00000253778.8:c.542C>T p.Ala181Val p.A181V ENST00000253778 NM_005110.2 181 gCa/gTa 0 -GIPC2 UCSF GRCh37 1 78560731 78560731 + synonymous_variant Silent SNP T T C NOVEL P12_Rec Untested WXS Illumina HiSeq 158 87 172 0 ENST00000370759.3:c.522T>C p.Arg174= p.R174= ENST00000370759 NM_017655.4 174 cgT/cgC 0 -IARS UCSF GRCh37 9 95040528 95040528 + synonymous_variant Silent SNP T T C NOVEL P12_Rec Untested WXS Illumina HiSeq 126 104 180 0 ENST00000375643.3:c.786A>G p.Arg262= p.R262= ENST00000375643 NM_013417.3 262 agA/agG 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P12_Rec somatic WXS Sanger Illumina HiSeq 75 63 125 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KBTBD5 UCSF GRCh37 3 42728091 42728091 + synonymous_variant Silent SNP C C T NOVEL P12_Rec Untested WXS Illumina HiSeq 123 24 108 0 ENST00000287777.4:c.981C>T p.Gly327= p.G327= ENST00000287777 NM_152393.3 327 ggC/ggT 0 -KIAA0430 UCSF GRCh37 16 15727556 15727556 + missense_variant Missense_Mutation SNP C C T NOVEL P12_Rec Untested WXS Illumina HiSeq 115 101 173 0 ENST00000396368.3:c.1151G>A p.Gly384Asp p.G384D ENST00000396368 NM_001184998.1 384 gGc/gAc 0 -MRC2 UCSF GRCh37 17 60744152 60744152 + synonymous_variant Silent SNP C C T NOVEL P12_Rec Untested WXS Illumina HiSeq 15 15 29 0 ENST00000303375.5:c.894C>T p.Ile298= p.I298= ENST00000303375 NM_006039.4 298 atC/atT 0 -PIEZO2 UCSF GRCh37 18 10758061 10758061 + stop_gained Nonsense_Mutation SNP G G A NOVEL P12_Rec Untested WXS Illumina HiSeq 153 99 193 0 ENST00000503781.3:c.3754C>T p.Arg1252Ter p.R1252* ENST00000503781 NM_022068.2 1252 Cga/Tga 0 -PITX2 UCSF GRCh37 4 111553569 111553569 + synonymous_variant Silent SNP C C G NOVEL P12_Rec Untested WXS Illumina HiSeq 94 19 85 0 ENST00000354925.2:c.114G>C p.Thr38= p.T38= ENST00000354925 NM_001204397.1 38 acG/acC 0 -PMEL UCSF GRCh37 12 56351767 56351767 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Rec Untested WXS Illumina HiSeq 82 73 132 0 ENST00000548493.1:c.571C>T p.Arg191Cys p.R191C ENST00000548493 191 Cgc/Tgc 0 -SLC7A2 UCSF GRCh37 8 17401018 17401018 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Rec Untested WXS Illumina HiSeq 61 64 103 0 ENST00000494857.1:c.170G>A p.Gly57Glu p.G57E ENST00000494857 NM_001008539.3 57 gGg/gAg 0 -SMARCA4 UCSF GRCh37 19 11132549 11132549 + missense_variant Missense_Mutation SNP G G C NOVEL P12_Rec somatic WXS Sanger Illumina HiSeq 46 86 75 0 ENST00000344626.4:c.2765G>C p.Trp922Ser p.W922S ENST00000344626 NM_003072.3 922 tGg/tCg 0 -SSPO UCSF GRCh37 7 149490407 149490407 + non_coding_transcript_exon_variant RNA SNP G G A 1000g2011may_all_0.0039 P12_Rec Untested WXS Illumina HiSeq 15 7 23 0 ENST00000378016.2:n.5883G>A *1961* ENST00000378016 0 -TCHP UCSF GRCh37 12 110346455 110346455 + missense_variant Missense_Mutation SNP A A G snp132_rs78378786 P12_Rec Untested WXS Illumina HiSeq 18 4 28 1 ENST00000312777.5:c.764A>G p.Glu255Gly p.E255G ENST00000312777 NM_032300.4 255 gAg/gGg 0 -TMTC1 UCSF GRCh37 12 29920865 29920865 + missense_variant Missense_Mutation SNP A A C NOVEL P12_Rec Untested WXS Illumina HiSeq 121 15 130 0 ENST00000539277.1:c.446T>G p.Leu149Trp p.L149W ENST00000539277 NM_001193451.1 149 tTg/tGg 0 -TP53 UCSF GRCh37 17 7578406 7578406 + missense_variant Missense_Mutation SNP C C T snp132_rs28934578 P12_Rec somatic WXS Sanger Illumina HiSeq 9 99 87 0 ENST00000269305.4:c.524G>A p.Arg175His p.R175H ENST00000269305 NM_001126112.2 175 cGc/cAc 0 -WDFY3 UCSF GRCh37 4 85605229 85605229 + missense_variant Missense_Mutation SNP T T C NOVEL P12_Rec Untested WXS Illumina HiSeq 90 77 121 0 ENST00000295888.4:c.9593A>G p.Asn3198Ser p.N3198S ENST00000295888 NM_014991.4 3198 aAt/aGt 0 -ZBTB45 UCSF GRCh37 19 59028912 59028912 + synonymous_variant Silent SNP C C T NOVEL P12_Rec Untested WXS Illumina HiSeq 58 51 74 0 ENST00000354590.3:c.129G>A p.Ser43= p.S43= ENST00000354590 NM_032792.2 43 tcG/tcA 0 -AIM2 UCSF GRCh37 1 159032487 159032488 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P13_Pri Untested WXS Illumina HiSeq 6 0 ENST00000368130.4:c.1027dup p.Thr343AsnfsTer5 p.T343Nfs*5 ENST00000368130 NM_004833.1 342 -/A 0 -ASH1L UCSF GRCh37 1 155308000 155308000 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P13_Pri Untested WXS Illumina HiSeq 8 0 ENST00000368346.3:c.8698delA p.Thr2900GlnfsTer44 p.T2900Qfs*44 ENST00000368346 2900 Aca/ca 0 -ATRX UCSF GRCh37 X 76918952 76918955 + frameshift_variant Frame_Shift_Del DEL CAGT CAGT - NOVEL P13_Pri somatic WXS Sanger Illumina HiSeq 33 0 ENST00000373344.5:c.4036_4039del p.Thr1346Ter p.T1346* ENST00000373344 NM_000489.3 1346 ACTGtg/tg 0 -CDC7 UCSF GRCh37 1 91967357 91967357 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P13_Pri Untested WXS Illumina HiSeq 6 0 ENST00000234626.6:c.92delA p.Asn31ThrfsTer51 p.N31Tfs*51 ENST00000234626 NM_001134419.1 28 ttA/tt 0 -CNOT1 UCSF GRCh37 16 58580377 58580377 + missense_variant Missense_Mutation SNP A A C NOVEL P13_Pri Untested WXS Illumina HiSeq 110 21 126 1 ENST00000317147.5:c.3854T>G p.Val1285Gly p.V1285G ENST00000317147 NM_016284.4 1285 gTt/gGt 0 -CNOT1 UCSF GRCh37 16 58612662 58612662 + missense_variant Missense_Mutation SNP T T C snp132_rs112226008 P13_Pri Untested WXS Illumina HiSeq 115 58 147 0 ENST00000317147.5:c.1525A>G p.Ile509Val p.I509V ENST00000317147 NM_016284.4 509 Att/Gtt 0 -COL12A1 UCSF GRCh37 6 75890724 75890724 + missense_variant Missense_Mutation SNP C C A NOVEL P13_Pri Untested WXS Illumina HiSeq 99 38 171 0 ENST00000322507.8:c.2095G>T p.Val699Phe p.V699F ENST00000322507 NM_004370.5 699 Gtc/Ttc 0 -CR2 UCSF GRCh37 1 207643301 207643301 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Pri Untested WXS Illumina HiSeq 108 40 154 0 ENST00000367058.3:c.1079G>A p.Arg360Gln p.R360Q ENST00000367058 NM_001877.4 360 cGa/cAa 0 -DYNC1I2 UCSF GRCh37 2 172549339 172549339 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P13_Pri Untested WXS Illumina HiSeq 7 0 ENST00000397119.3:c.169delA p.Arg57GlyfsTer13 p.R57Gfs*13 ENST00000397119 NM_001378.2 54 gAa/ga 0 -ELL2 UCSF GRCh37 5 95231362 95231362 + missense_variant Missense_Mutation SNP G G C NOVEL P13_Pri Untested WXS Illumina HiSeq 65 24 72 0 ENST00000237853.4:c.1559C>G p.Pro520Arg p.P520R ENST00000237853 NM_012081.5 520 cCt/cGt 0 -FAR2 UCSF GRCh37 12 29450110 29450110 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P13_Pri Untested WXS Illumina HiSeq 6 0 ENST00000182377.4:c.529delA p.Ile177SerfsTer8 p.I177Sfs*8 ENST00000182377 NM_018099.4 174 ccA/cc 0 -FGF12 UCSF GRCh37 3 191888444 191888444 + missense_variant,splice_region_variant Missense_Mutation SNP T T C NOVEL P13_Pri Untested WXS Illumina HiSeq 132 52 164 0 ENST00000454309.2:c.416A>G p.Asp139Gly p.D139G ENST00000454309 NM_021032.4 139 gAt/gGt 0 -FMN2 UCSF GRCh37 1 240371223 240371223 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.149 P13_Pri Untested WXS Illumina HiSeq 12 4 18 0 ENST00000319653.9:c.3111C>T p.Pro1037= p.P1037= ENST00000319653 NM_020066.4 1037 ccC/ccT 0 -IDH1 UCSF GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G C NOVEL P13_Pri Untested WXS Illumina HiSeq 86 33 136 0 ENST00000345146.2:c.394C>G p.Arg132Gly p.R132G ENST00000345146 NM_005896.2 132 Cgt/Ggt 0 -INTU UCSF GRCh37 4 128564702 128564702 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Pri Untested WXS Illumina HiSeq 174 37 199 0 ENST00000335251.6:c.173G>A p.Ser58Asn p.S58N ENST00000335251 NM_015693.3 58 aGt/aAt 0 -KLF17 UCSF GRCh37 1 44595246 44595246 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P13_Pri Untested WXS Illumina HiSeq 7 0 ENST00000372299.3:c.307del p.Gln103LysfsTer9 p.Q103Kfs*9 ENST00000372299 NM_173484.3 101 tgC/tg 0 -MUC5B UCSF GRCh37 11 1253980 1253980 + missense_variant Missense_Mutation SNP A A G 1000g2010nov_all_0.103,snp132_rs115853043 P13_Pri Untested WXS Illumina HiSeq 11 5 19 1 ENST00000529681.1:c.2045A>G p.Asp682Gly p.D682G ENST00000529681 NM_002458.2 682 gAc/gGc 0 -PCLO UCSF GRCh37 7 82581498 82581499 + inframe_insertion In_Frame_Ins INS - - TCT NOVEL P13_Pri Untested WXS Illumina HiSeq 6 0 ENST00000333891.9:c.8770_8771insAGA p.Ile2923_Ile2924insLys p.I2923_I2924insK ENST00000333891 NM_033026.5 2924 ata/aAGAta 0 -PRDM9 UCSF GRCh37 5 23510029 23510029 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P13_Pri somatic WXS Sanger Illumina HiSeq 77 20 101 0 ENST00000296682.3:c.194G>A p.Gly65Asp p.G65D ENST00000296682 NM_020227.2 65 gGt/gAt 0 -PZP UCSF GRCh37 12 9349246 9349246 + synonymous_variant Silent SNP G G A NOVEL P13_Pri Untested WXS Illumina HiSeq 235 35 221 0 ENST00000261336.2:c.903C>T p.His301= p.H301= ENST00000261336 NM_002864.2 301 caC/caT 0 -SEMA4B UCSF GRCh37 15 90771680 90771680 + synonymous_variant Silent SNP C C T NOVEL P13_Pri Untested WXS Illumina HiSeq 55 24 94 0 ENST00000411539.2:c.2319C>T p.Asn773= p.N773= ENST00000411539 NM_198925.2 773 aaC/aaT 0 -SHROOM3 UCSF GRCh37 4 77675759 77675759 + stop_gained Nonsense_Mutation SNP C C T NOVEL P13_Pri somatic WXS Sanger Illumina HiSeq 45 22 101 0 ENST00000296043.6:c.4123C>T p.Arg1375Ter p.R1375* ENST00000296043 NM_020859.3 1375 Cga/Tga 0 -SLFN13 UCSF GRCh37 17 33771784 33771784 + missense_variant Missense_Mutation SNP C C G 1000g2010nov_all_0.015,1000g2011may_all_0.0426,snp132_rs78359177 P13_Pri Untested WXS Illumina HiSeq 146 67 188 0 ENST00000285013.6:c.916G>C p.Glu306Gln p.E306Q ENST00000285013 NM_144682.5 306 Gag/Cag 0 -TKTL2 UCSF GRCh37 4 164394416 164394416 + synonymous_variant Silent SNP G G A NOVEL P13_Pri Untested WXS Illumina HiSeq 110 18 145 0 ENST00000280605.3:c.471C>T p.Gly157= p.G157= ENST00000280605 NM_032136.4 157 ggC/ggT 0 -TP53 UCSF GRCh37 17 7579370 7579370 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P13_Pri somatic WXS Sanger Illumina HiSeq 41 0 ENST00000269305.4:c.317del p.Ser106ThrfsTer17 p.S106Tfs*17 ENST00000269305 NM_001126112.2 106 aGc/ac 0 -TP53 UCSF GRCh37 17 7577515 7577516 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P13_Pri somatic WXS Sanger Illumina HiSeq 11 0 ENST00000269305.4:c.766dup p.Thr256AsnfsTer8 p.T256Nfs*8 ENST00000269305 NM_001126112.2 255 -/A 0 -TRIO UCSF GRCh37 5 14389501 14389503 + inframe_deletion In_Frame_Del DEL ATA ATA - NOVEL P13_Pri Untested WXS Illumina HiSeq 8 0 ENST00000344204.4:c.4056_4058del p.Asn1353del p.N1353del ENST00000344204 NM_007118.2 1351 cATAat/cat 0 -TTC28 UCSF GRCh37 22 28501647 28501647 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Pri Untested WXS Illumina HiSeq 103 65 194 0 ENST00000397906.2:c.2927C>T p.Ala976Val p.A976V ENST00000397906 NM_001145418.1 976 gCc/gTc 0 -UBE2J2 UCSF GRCh37 1 1191458 1191459 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P13_Pri Untested WXS Illumina HiSeq 16 0 ENST00000349431.6:c.461_462del p.Lys154SerfsTer4 p.K154Sfs*4 ENST00000349431 NM_058167.2 154 aAA/a 0 -ZRANB3 UCSF GRCh37 2 136148382 136148396 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region DEL ACCATACACCTGGAA ACCATACACCTGGAA CCCAAACCCCTGG NOVEL P13_Pri Untested WXS Illumina HiSeq 6 0 ENST00000264159.6:c.162-6_170delinsCCAGGGGTTTGGG p.X54_splice ENST00000264159 NM_032143.2 0 -ATRX UCSF GRCh37 X 76918952 76918955 + frameshift_variant Frame_Shift_Del DEL CAGT CAGT - NOVEL P13_Rec somatic WXS Sanger Illumina HiSeq 35 0 ENST00000373344.5:c.4036_4039del p.Thr1346Ter p.T1346* ENST00000373344 NM_000489.3 1346 ACTGtg/tg 0 -CCDC99 UCSF GRCh37 5 169021488 169021488 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P13_Rec Untested WXS Illumina HiSeq 17 0 ENST00000265295.4:c.774del p.Phe258LeufsTer18 p.F258Lfs*18 ENST00000265295 NM_017785.4 258 Ttt/tt 0 -CNOT1 UCSF GRCh37 16 58612662 58612662 + missense_variant Missense_Mutation SNP T T C snp132_rs112226008 P13_Rec Untested WXS Illumina HiSeq 93 42 147 0 ENST00000317147.5:c.1525A>G p.Ile509Val p.I509V ENST00000317147 NM_016284.4 509 Att/Gtt 0 -COL12A1 UCSF GRCh37 6 75890724 75890724 + missense_variant Missense_Mutation SNP C C A NOVEL P13_Rec Untested WXS Illumina HiSeq 113 47 171 0 ENST00000322507.8:c.2095G>T p.Val699Phe p.V699F ENST00000322507 NM_004370.5 699 Gtc/Ttc 0 -CR2 UCSF GRCh37 1 207643301 207643301 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Rec Untested WXS Illumina HiSeq 111 40 154 0 ENST00000367058.3:c.1079G>A p.Arg360Gln p.R360Q ENST00000367058 NM_001877.4 360 cGa/cAa 0 -ELL2 UCSF GRCh37 5 95231362 95231362 + missense_variant Missense_Mutation SNP G G C NOVEL P13_Rec Untested WXS Illumina HiSeq 70 17 72 0 ENST00000237853.4:c.1559C>G p.Pro520Arg p.P520R ENST00000237853 NM_012081.5 520 cCt/cGt 0 -FGF12 UCSF GRCh37 3 191888444 191888444 + missense_variant,splice_region_variant Missense_Mutation SNP T T C NOVEL P13_Rec Untested WXS Illumina HiSeq 115 32 164 0 ENST00000454309.2:c.416A>G p.Asp139Gly p.D139G ENST00000454309 NM_021032.4 139 gAt/gGt 0 -GLTSCR1 UCSF GRCh37 19 48205548 48205548 + missense_variant Missense_Mutation SNP C C T NOVEL P13_Rec Untested WXS Illumina HiSeq 19 9 23 0 ENST00000396720.3:c.4559C>T p.Ala1520Val p.A1520V ENST00000396720 NM_015711.3 1520 gCg/gTg 0 -HACE1 UCSF GRCh37 6 105219151 105219151 + missense_variant Missense_Mutation SNP C C G NOVEL P13_Rec Untested WXS Illumina HiSeq 112 22 136 0 ENST00000262903.4:c.2128G>C p.Val710Leu p.V710L ENST00000262903 NM_020771.3 710 Gtt/Ctt 0 -IDH1 UCSF GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G C NOVEL P13_Rec Untested WXS Illumina HiSeq 69 27 136 0 ENST00000345146.2:c.394C>G p.Arg132Gly p.R132G ENST00000345146 NM_005896.2 132 Cgt/Ggt 0 -INTU UCSF GRCh37 4 128564702 128564702 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Rec Untested WXS Illumina HiSeq 154 33 199 0 ENST00000335251.6:c.173G>A p.Ser58Asn p.S58N ENST00000335251 NM_015693.3 58 aGt/aAt 0 -LAMA1 UCSF GRCh37 18 6971860 6971860 + missense_variant Missense_Mutation SNP C C T NOVEL P13_Rec Untested WXS Illumina HiSeq 139 34 177 0 ENST00000389658.3:c.6895G>A p.Gly2299Arg p.G2299R ENST00000389658 NM_005559.3 2299 Gga/Aga 0 -LCA5L UCSF GRCh37 21 40777928 40777928 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0015 P13_Rec Untested WXS Illumina HiSeq 86 12 102 0 ENST00000288350.3:c.1893G>A p.Ser631= p.S631= ENST00000288350 631 tcG/tcA 0 -MPHOSPH10 UCSF GRCh37 2 71371569 71371571 + inframe_deletion In_Frame_Del DEL AGA AGA - NOVEL P13_Rec Untested WXS Illumina HiSeq 7 0 ENST00000244230.2:c.1465_1467del p.Glu489del p.E489del ENST00000244230 NM_005791.2 486 gcAGAa/gca 0 -MYO18B UCSF GRCh37 22 26194037 26194037 + missense_variant Missense_Mutation SNP C C T NOVEL P13_Rec Untested WXS Illumina HiSeq 62 13 108 0 ENST00000536101.1:c.2494C>T p.His832Tyr p.H832Y ENST00000536101 832 Cac/Tac 0 -MYO7A UCSF GRCh37 11 76905469 76905469 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Rec Untested WXS Illumina HiSeq 50 7 61 0 ENST00000409709.3:c.4223G>A p.Arg1408His p.R1408H ENST00000409709 NM_000260.3 1408 cGc/cAc 0 -MYO9B UCSF GRCh37 19 17311626 17311626 + synonymous_variant Silent SNP C C T NOVEL P13_Rec Untested WXS Illumina HiSeq 124 14 153 0 ENST00000594824.1:c.4551C>T p.Phe1517= p.F1517= ENST00000594824 1517 ttC/ttT 0 -NWD1 UCSF GRCh37 19 16872863 16872863 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Rec Untested WXS Illumina HiSeq 101 15 102 0 ENST00000552788.1:c.2047G>A p.Asp683Asn p.D683N ENST00000552788 683 Gac/Aac 0 -PRDM9 UCSF GRCh37 5 23510029 23510029 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P13_Rec somatic WXS Sanger Illumina HiSeq 58 26 101 0 ENST00000296682.3:c.194G>A p.Gly65Asp p.G65D ENST00000296682 NM_020227.2 65 gGt/gAt 0 -PROL1 UCSF GRCh37 4 71275502 71275502 + missense_variant Missense_Mutation SNP A A G NOVEL P13_Rec Untested WXS Illumina HiSeq 133 19 168 0 ENST00000399575.2:c.457A>G p.Ile153Val p.I153V ENST00000399575 NM_021225.4 153 Atc/Gtc 0 -RBPJ UCSF GRCh37 4 26426014 26426017 + frameshift_variant Frame_Shift_Del DEL CAGA CAGA - NOVEL P13_Rec Untested WXS Illumina HiSeq 12 0 ENST00000342295.1:c.589_592delACAG p.Thr197LeufsTer8 p.T197Lfs*8 ENST00000342295 NM_005349.3 196 CAGAca/ca 0 -RIF1 UCSF GRCh37 2 152320028 152320028 + missense_variant Missense_Mutation SNP C C G NOVEL P13_Rec Untested WXS Illumina HiSeq 134 20 128 0 ENST00000243326.5:c.3994C>G p.Leu1332Val p.L1332V ENST00000243326 1332 Ctt/Gtt 0 -RPL35 UCSF GRCh37 9 127623796 127623798 + inframe_deletion In_Frame_Del DEL CTT CTT - NOVEL P13_Rec Untested WXS Illumina HiSeq 8 0 ENST00000348462.3:c.40_42del p.Lys14del p.K14del ENST00000348462 NM_007209.3 14 AAG/- 0 -SDK1 UCSF GRCh37 7 4153752 4153752 + synonymous_variant Silent SNP A A G NOVEL P13_Rec Untested WXS Illumina HiSeq 76 9 91 0 ENST00000404826.2:c.3669A>G p.Ser1223= p.S1223= ENST00000404826 NM_152744.3 1223 tcA/tcG 0 -SEMA4B UCSF GRCh37 15 90771680 90771680 + synonymous_variant Silent SNP C C T NOVEL P13_Rec Untested WXS Illumina HiSeq 78 27 94 0 ENST00000411539.2:c.2319C>T p.Asn773= p.N773= ENST00000411539 NM_198925.2 773 aaC/aaT 0 -SHROOM3 UCSF GRCh37 4 77675759 77675759 + stop_gained Nonsense_Mutation SNP C C T NOVEL P13_Rec somatic WXS Sanger Illumina HiSeq 64 12 101 0 ENST00000296043.6:c.4123C>T p.Arg1375Ter p.R1375* ENST00000296043 NM_020859.3 1375 Cga/Tga 0 -SLFN13 UCSF GRCh37 17 33771784 33771784 + missense_variant Missense_Mutation SNP C C G 1000g2010nov_all_0.015,1000g2011may_all_0.0426,snp132_rs78359177 P13_Rec Untested WXS Illumina HiSeq 114 40 188 0 ENST00000285013.6:c.916G>C p.Glu306Gln p.E306Q ENST00000285013 NM_144682.5 306 Gag/Cag 0 -TP53 UCSF GRCh37 17 7579370 7579370 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P13_Rec somatic WXS Sanger Illumina HiSeq 30 0 ENST00000269305.4:c.317del p.Ser106ThrfsTer17 p.S106Tfs*17 ENST00000269305 NM_001126112.2 106 aGc/ac 0 -TP53 UCSF GRCh37 17 7577515 7577516 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P13_Rec somatic WXS Sanger Illumina HiSeq 8 0 ENST00000269305.4:c.766dup p.Thr256AsnfsTer8 p.T256Nfs*8 ENST00000269305 NM_001126112.2 255 -/A 0 -TTC28 UCSF GRCh37 22 28501647 28501647 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Rec Untested WXS Illumina HiSeq 125 63 194 0 ENST00000397906.2:c.2927C>T p.Ala976Val p.A976V ENST00000397906 NM_001145418.1 976 gCc/gTc 0 -UNC5C UCSF GRCh37 4 96163617 96163617 + missense_variant Missense_Mutation SNP C C G NOVEL P13_Rec Untested WXS Illumina HiSeq 69 11 81 0 ENST00000453304.1:c.1071G>C p.Leu357Phe p.L357F ENST00000453304 NM_003728.3 357 ttG/ttC 0 -ANKRD49 UCSF GRCh37 11 94230059 94230060 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P15_Pri Untested WXS Illumina HiSeq 6 0 ENST00000302755.4:c.208dup p.Met70AsnfsTer14 p.M70Nfs*14 ENST00000302755 67 gaa/gaAa 0 -AQP2 UCSF GRCh37 12 50344806 50344806 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Pri Untested WXS Illumina HiSeq 31 21 45 0 ENST00000199280.3:c.193G>A p.Ala65Thr p.A65T ENST00000199280 NM_000486.5 65 Gcc/Acc 0 -ATP2A3 UCSF GRCh37 17 3848013 3848013 + synonymous_variant Silent SNP A A C 1000g2010nov_all_0.333,1000g2011may_all_0.4766,snp132_rs1800911 P15_Pri Untested WXS Illumina HiSeq 17 7 12 0 ENST00000352011.3:c.1272T>G p.Ala424= p.A424= ENST00000352011 424 gcT/gcG 0 -C7orf41 UCSF GRCh37 7 30174773 30174773 + synonymous_variant Silent SNP C C G 1000g2010nov_all_0.152,1000g2011may_all_0.1580,snp132_rs73689406 P15_Pri Untested WXS Illumina HiSeq 11 18 9 0 ENST00000324453.8:c.21C>G p.Ala7= p.A7= ENST00000324453 NM_152793.2 7 gcC/gcG 0 -CCIN UCSF GRCh37 9 36170747 36170747 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0023 P15_Pri Untested WXS Illumina HiSeq 136 40 68 0 ENST00000335119.2:c.1248C>T p.Thr416= p.T416= ENST00000335119 NM_005893.2 416 acC/acT 0 -COL12A1 UCSF GRCh37 6 75892915 75892915 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 166 62 103 0 ENST00000322507.8:c.1742G>A p.Arg581His p.R581H ENST00000322507 NM_004370.5 581 cGc/cAc 0 -EDEM3 UCSF GRCh37 1 184692968 184692999 + coding_sequence_variant,intron_variant Frame_Shift_Ins INS TCAAGAGCTTTTCTGGCATATTCCTGTAATTT TCAAGAGCTTTTCTGGCATATTCCTGTAATTT AAAAAAGGTTTTTTGGCATATTCCTTTAATTTA NOVEL P15_Pri Untested WXS Illumina HiSeq 6 0 ENST00000318130.8:c.748-9_770delinsTAAATTAAAGGAATATGCCAAAAAACCTTTTTT *250fs* ENST00000318130 NM_025191.3 0 -FRMPD4 UCSF GRCh37 X 12734265 12734265 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Pri Untested WXS Illumina HiSeq 217 38 125 0 ENST00000380682.1:c.1687G>A p.Glu563Lys p.E563K ENST00000380682 NM_014728.3 563 Gaa/Aaa 0 -HIST1H4D UCSF GRCh37 6 26189132 26189132 + missense_variant Missense_Mutation SNP A A T NOVEL P15_Pri Untested WXS Illumina HiSeq 126 52 75 0 ENST00000340756.2:c.173T>A p.Val58Glu p.V58E ENST00000340756 NM_003539.3 58 gTg/gAg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 90 53 57 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KCNMA1 UCSF GRCh37 10 78729786 78729786 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P15_Pri Untested WXS Illumina HiSeq 7 0 ENST00000286628.8:c.2306delA p.Lys769SerfsTer17 p.K769Sfs*17 ENST00000286628 NM_001161352.1 769 aAg/ag 0 -KRTAP5-5 UCSF GRCh37 11 1651608 1651637 + inframe_deletion In_Frame_Del DEL AAGCCTTACTGCTGCCAGTCCAGCTGCTGT AAGCCTTACTGCTGCCAGTCCAGCTGCTGT - NOVEL P15_Pri Untested WXS Illumina HiSeq 6 0 ENST00000399676.2:c.543_572del p.Tyr192_Pro201del p.Y192_P201del ENST00000399676 NM_001001480.2 180 AAGCCTTACTGCTGCCAGTCCAGCTGCTGT/- 0 -MUC5B UCSF GRCh37 11 1251743 1251743 + synonymous_variant Silent SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 9 8 20 0 ENST00000529681.1:c.1383C>T p.Thr461= p.T461= ENST00000529681 NM_002458.2 461 acC/acT 0 -NCAM1 UCSF GRCh37 11 113078099 113078102 + splice_donor_variant,coding_sequence_variant Splice_Site DEL AAGT AAGT - NOVEL P15_Pri Untested WXS Illumina HiSeq 18 0 ENST00000316851.7:c.716+2_716+5del p.X239_splice ENST00000316851 NM_181351.4 239 0 -OR6C68 UCSF GRCh37 12 55887087 55887087 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Pri Untested WXS Illumina HiSeq 116 24 82 0 ENST00000548615.1:c.926G>A p.Arg309His p.R309H ENST00000548615 NM_001005519.2 309 cGt/cAt 0 -PLA2G4A UCSF GRCh37 1 186948489 186948489 + missense_variant Missense_Mutation SNP T T C NOVEL P15_Pri Untested WXS Illumina HiSeq 145 36 101 0 ENST00000367466.3:c.2003T>C p.Phe668Ser p.F668S ENST00000367466 NM_024420.2 668 tTt/tCt 0 -PLXNA1 UCSF GRCh37 3 126751380 126751380 + missense_variant Missense_Mutation SNP C C A NOVEL P15_Pri Untested WXS Illumina HiSeq 63 16 45 0 ENST00000393409.2:c.5382C>A p.Asp1794Glu p.D1794E ENST00000393409 NM_032242.3 1794 gaC/gaA 0 -PRG4 UCSF GRCh37 1 186282886 186282886 + synonymous_variant Silent SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 131 32 115 0 ENST00000445192.2:c.4191C>T p.Ser1397= p.S1397= ENST00000445192 NM_005807.3 1397 tcC/tcT 0 -PRR21 UCSF GRCh37 2 240981556 240981556 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 25 4 15 1 ENST00000408934.1:c.844G>A p.Gly282Ser p.G282S ENST00000408934 NM_001080835.1 282 Ggc/Agc 0 -PRR21 UCSF GRCh37 2 240981526 240981526 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Pri Untested WXS Illumina HiSeq 39 5 35 1 ENST00000408934.1:c.874C>T p.Pro292Ser p.P292S ENST00000408934 NM_001080835.1 292 Ccc/Tcc 0 -RBM19 UCSF GRCh37 12 114282578 114282578 + synonymous_variant Silent SNP G G A NOVEL P15_Pri Untested WXS Illumina HiSeq 53 7 40 1 ENST00000261741.5:c.2680C>T p.Leu894= p.L894= ENST00000261741 NM_016196.3 894 Ctg/Ttg 0 -SAMD9L UCSF GRCh37 7 92763519 92763519 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 195 40 144 0 ENST00000318238.4:c.1766G>A p.Arg589Gln p.R589Q ENST00000318238 NM_152703.2 589 cGa/cAa 0 -SIGLEC1 UCSF GRCh37 20 3675563 3675563 + stop_gained Nonsense_Mutation SNP C C T NOVEL P15_Pri somatic WXS Sanger Illumina HiSeq 41 20 33 0 ENST00000344754.4:c.2691G>A p.Trp897Ter p.W897* ENST00000344754 NM_023068.3 897 tgG/tgA 0 -SLCO1B3 UCSF GRCh37 12 21028267 21028267 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P15_Pri Untested WXS Illumina HiSeq 6 0 ENST00000261196.2:c.833delT p.Phe278SerfsTer22 p.F278Sfs*22 ENST00000261196 276 Ttt/tt 0 -SMARCA4 UCSF GRCh37 19 11144027 11144027 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Pri somatic WXS Sanger Illumina HiSeq 88 24 67 0 ENST00000344626.4:c.3608G>A p.Arg1203His p.R1203H ENST00000344626 NM_003072.3 1203 cGc/cAc 0 -SNX29 UCSF GRCh37 16 12162987 12162987 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 119 22 84 0 ENST00000566228.1:c.1317C>T p.Tyr439= p.Y439= ENST00000566228 NM_032167.3 439 taC/taT 0 -ACPT UCSF GRCh37 19 51297752 51297752 + synonymous_variant Silent SNP C C A NOVEL P15_Rec Untested WXS Illumina HiSeq 22 3 46 0 ENST00000270593.1:c.900C>A p.Gly300= p.G300= ENST00000270593 NM_033068.2 300 ggC/ggA 0 -AKAP1 UCSF GRCh37 17 55195794 55195794 + synonymous_variant Silent SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 26 28 65 0 ENST00000337714.3:c.2553G>A p.Gly851= p.G851= ENST00000337714 NM_003488.3 851 ggG/ggA 0 -AQP2 UCSF GRCh37 12 50344806 50344806 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 22 21 45 0 ENST00000199280.3:c.193G>A p.Ala65Thr p.A65T ENST00000199280 NM_000486.5 65 Gcc/Acc 0 -ATP2A3 UCSF GRCh37 17 3848013 3848013 + synonymous_variant Silent SNP A A C 1000g2010nov_all_0.333,1000g2011may_all_0.4766,snp132_rs1800911 P15_Rec Untested WXS Illumina HiSeq 9 5 12 0 ENST00000352011.3:c.1272T>G p.Ala424= p.A424= ENST00000352011 424 gcT/gcG 0 -C7orf41 UCSF GRCh37 7 30174773 30174773 + synonymous_variant Silent SNP C C G 1000g2010nov_all_0.152,1000g2011may_all_0.1580,snp132_rs73689406 P15_Rec Untested WXS Illumina HiSeq 8 7 9 0 ENST00000324453.8:c.21C>G p.Ala7= p.A7= ENST00000324453 NM_152793.2 7 gcC/gcG 0 -CANX UCSF GRCh37 5 179143236 179143236 + synonymous_variant Silent SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 61 24 77 0 ENST00000247461.4:c.852C>T p.Pro284= p.P284= ENST00000247461 NM_001746.3 284 ccC/ccT 0 -CCDC11 UCSF GRCh37 18 47753978 47753978 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 84 44 79 0 ENST00000398545.4:c.1318C>T p.Arg440Cys p.R440C ENST00000398545 NM_145020.3 440 Cgc/Tgc 0 -CCDC150 UCSF GRCh37 2 197537116 197537116 + synonymous_variant Silent SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 70 35 96 0 ENST00000389175.4:c.984G>A p.Leu328= p.L328= ENST00000389175 NM_001080539.1 328 ttG/ttA 0 -CCIN UCSF GRCh37 9 36170747 36170747 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0023 P15_Rec Untested WXS Illumina HiSeq 73 57 68 0 ENST00000335119.2:c.1248C>T p.Thr416= p.T416= ENST00000335119 NM_005893.2 416 acC/acT 0 -CIC UCSF GRCh37 19 42799063 42799065 + inframe_deletion In_Frame_Del DEL AGA AGA - NOVEL P15_Rec somatic WXS Sanger Illumina HiSeq 16 0 ENST00000575354.2:c.4550_4552del p.Lys1517del p.K1517del ENST00000575354 NM_015125.3 1516 cAGAag/cag 0 -CLEC18A UCSF GRCh37 16 69988359 69988359 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.049,1000g2011may_all_0.1101,snp132_rs2549095 P15_Rec Untested WXS Illumina HiSeq 38 5 23 1 ENST00000288040.6:c.339A>G p.Leu113= p.L113= ENST00000288040 NM_001136214.2 113 ctA/ctG 0 -COL12A1 UCSF GRCh37 6 75892915 75892915 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 87 60 103 0 ENST00000322507.8:c.1742G>A p.Arg581His p.R581H ENST00000322507 NM_004370.5 581 cGc/cAc 0 -DNAH17 UCSF GRCh37 17 76481017 76481017 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 37 20 39 0 ENST00000389840.5:c.7540G>A p.Glu2514Lys p.E2514K ENST00000389840 2514 Gag/Aag 0 -ERBB4 UCSF GRCh37 2 212248672 212248672 + missense_variant Missense_Mutation SNP C C G NOVEL P15_Rec Untested WXS Illumina HiSeq 86 66 126 0 ENST00000342788.4:c.3595G>C p.Glu1199Gln p.E1199Q ENST00000342788 NM_005235.2 1199 Gag/Cag 0 -GIMAP7 UCSF GRCh37 7 150217197 150217197 + missense_variant Missense_Mutation SNP G G T NOVEL P15_Rec Untested WXS Illumina HiSeq 74 38 111 0 ENST00000313543.4:c.135G>T p.Lys45Asn p.K45N ENST00000313543 NM_153236.3 45 aaG/aaT 0 -HERC1 UCSF GRCh37 15 63954081 63954081 + missense_variant Missense_Mutation SNP T T C NOVEL P15_Rec Untested WXS Illumina HiSeq 154 63 133 0 ENST00000443617.2:c.9041A>G p.Asn3014Ser p.N3014S ENST00000443617 NM_003922.3 3014 aAt/aGt 0 -HIST1H4D UCSF GRCh37 6 26189132 26189132 + missense_variant Missense_Mutation SNP A A T NOVEL P15_Rec Untested WXS Illumina HiSeq 59 45 75 0 ENST00000340756.2:c.173T>A p.Val58Glu p.V58E ENST00000340756 NM_003539.3 58 gTg/gAg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 52 37 57 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGSF3 UCSF GRCh37 1 117146592 117146592 + missense_variant Missense_Mutation SNP C C G NOVEL P15_Rec Untested WXS Illumina HiSeq 25 4 50 0 ENST00000369486.3:c.1278G>C p.Glu426Asp p.E426D ENST00000369486 NM_001007237.2 426 gaG/gaC 0 -KCMT-ND2 UCSF GRCh37 7 119915468 119915468 + missense_variant Missense_Mutation SNP T T C NOVEL P15_Rec Untested WXS Illumina HiSeq 52 23 66 0 ENST00000331113.4:c.782T>C p.Val261Ala p.V261A ENST00000331113 NM_012281.2 261 gTc/gCc 0 -MLL3 UCSF GRCh37 7 151935894 151935894 + missense_variant Missense_Mutation SNP A A C NOVEL P15_Rec Untested WXS Illumina HiSeq 178 20 187 0 ENST00000262189.6:c.2550T>G p.His850Gln p.H850Q ENST00000262189 NM_170606.2 850 caT/caG 0 -NES UCSF GRCh37 1 156641394 156641394 + synonymous_variant Silent SNP A A C NOVEL P15_Rec Untested WXS Illumina HiSeq 94 51 121 0 ENST00000368223.3:c.2586T>G p.Pro862= p.P862= ENST00000368223 NM_006617.1 862 ccT/ccG 0 -PCDHB13 UCSF GRCh37 5 140595477 140595477 + synonymous_variant Silent SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 24 12 60 1 ENST00000341948.4:c.1782C>T p.Gly594= p.G594= ENST00000341948 NM_018933.2 594 ggC/ggT 0 -PLA2G4A UCSF GRCh37 1 186948489 186948489 + missense_variant Missense_Mutation SNP T T C NOVEL P15_Rec Untested WXS Illumina HiSeq 67 42 101 0 ENST00000367466.3:c.2003T>C p.Phe668Ser p.F668S ENST00000367466 NM_024420.2 668 tTt/tCt 0 -PLS3 UCSF GRCh37 X 114869338 114869338 + missense_variant Missense_Mutation SNP T T C NOVEL P15_Rec Untested WXS Illumina HiSeq 120 42 110 0 ENST00000355899.3:c.728T>C p.Ile243Thr p.I243T ENST00000355899 NM_005032.5 243 aTt/aCt 0 -PLXNA1 UCSF GRCh37 3 126751380 126751380 + missense_variant Missense_Mutation SNP C C A NOVEL P15_Rec Untested WXS Illumina HiSeq 35 27 45 0 ENST00000393409.2:c.5382C>A p.Asp1794Glu p.D1794E ENST00000393409 NM_032242.3 1794 gaC/gaA 0 -PRG4 UCSF GRCh37 1 186282886 186282886 + synonymous_variant Silent SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 74 73 115 0 ENST00000445192.2:c.4191C>T p.Ser1397= p.S1397= ENST00000445192 NM_005807.3 1397 tcC/tcT 0 -PSG11 UCSF GRCh37 19 43529085 43529085 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 53 20 112 0 ENST00000320078.7:c.188C>T p.Thr63Ile p.T63I ENST00000320078 NM_002785.2 63 aCt/aTt 0 -RBM19 UCSF GRCh37 12 114282578 114282578 + synonymous_variant Silent SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 22 20 40 1 ENST00000261741.5:c.2680C>T p.Leu894= p.L894= ENST00000261741 NM_016196.3 894 Ctg/Ttg 0 -SAMD9L UCSF GRCh37 7 92763519 92763519 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 84 69 144 0 ENST00000318238.4:c.1766G>A p.Arg589Gln p.R589Q ENST00000318238 NM_152703.2 589 cGa/cAa 0 -SIGLEC1 UCSF GRCh37 20 3675563 3675563 + stop_gained Nonsense_Mutation SNP C C T NOVEL P15_Rec somatic WXS Sanger Illumina HiSeq 21 17 33 0 ENST00000344754.4:c.2691G>A p.Trp897Ter p.W897* ENST00000344754 NM_023068.3 897 tgG/tgA 0 -SORD UCSF GRCh37 15 45361180 45361180 + missense_variant Missense_Mutation SNP A A T 1000g2010nov_all_0.196,1000g2011may_all_0.4705,snp132_rs1042079 P15_Rec Untested WXS Illumina HiSeq 19 5 32 1 ENST00000267814.9:c.716A>T p.Gln239Leu p.Q239L ENST00000267814 NM_003104.5 239 cAg/cTg 0 -TMEM132A UCSF GRCh37 11 60699305 60699305 + stop_gained Nonsense_Mutation SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 81 11 66 0 ENST00000453848.2:c.1161G>A p.Trp387Ter p.W387* ENST00000453848 387 tgG/tgA 0 -TMTC2 UCSF GRCh37 12 83251171 83251171 + missense_variant Missense_Mutation SNP A A G NOVEL P15_Rec Untested WXS Illumina HiSeq 47 36 68 0 ENST00000321196.3:c.466A>G p.Ile156Val p.I156V ENST00000321196 NM_152588.1 156 Att/Gtt 0 -VAV2 UCSF GRCh37 9 136662918 136662918 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 16 8 36 0 ENST00000371850.3:c.850G>A p.Gly284Arg p.G284R ENST00000371850 NM_001134398.1 284 Ggg/Agg 0 -ANKRD30B UCSF GRCh37 18 14852419 14852419 + missense_variant Missense_Mutation SNP A A T NOVEL P16_Pri Untested WXS Illumina HiSeq 35 21 102 0 ENST00000358984.4:c.4119A>T p.Glu1373Asp p.E1373D ENST00000358984 NM_001145029.1 1373 gaA/gaT 0 -ATM UCSF GRCh37 11 108159724 108159724 + missense_variant Missense_Mutation SNP A A C NOVEL P16_Pri Untested WXS Illumina HiSeq 99 12 150 0 ENST00000278616.4:c.4130A>C p.Asn1377Thr p.N1377T ENST00000278616 NM_000051.3 1377 aAt/aCt 0 -ATRX UCSF GRCh37 X 76939906 76939907 + frameshift_variant Frame_Shift_Ins INS - - TTACATGCAGTGACCAAGTCCAACAAAGGCTCTGGGTGACAAATGTAGC NOVEL P16_Pri Untested WXS Illumina HiSeq 10 0 ENST00000373344.5:c.841_842insGCTACATTTGTCACCCAGAGCCTTTGTTGGACTTGGTCACTGCATGTAA p.Asn281SerfsTer21 p.N281Sfs*21 ENST00000373344 NM_000489.3 281 aac/aGCTACATTTGTCACCCAGAGCCTTTGTTGGACTTGGTCACTGCATGTAAac 0 -BLMH UCSF GRCh37 17 28614922 28614922 + missense_variant Missense_Mutation SNP G G C NOVEL P16_Pri Untested WXS Illumina HiSeq 77 21 127 0 ENST00000261714.6:c.365C>G p.Ala122Gly p.A122G ENST00000261714 NM_000386.3 122 gCc/gGc 0 -LCOR UCSF GRCh37 10 98744566 98744566 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 52 44 165 0 ENST00000286067.2:c.3419C>T p.Thr1140Met p.T1140M ENST00000286067 NM_015652.2 1140 aCg/aTg 0 -LIAT1 UCSF GRCh37 17 263652 263652 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.1126,snp132_rs111543298 P16_Pri Untested WXS Illumina HiSeq 40 7 56 1 ENST00000360127.6:c.1018G>A p.Glu340Lys p.E340K ENST00000360127 NM_001013672.4 340 Gag/Aag 0 -CRIPAK UCSF GRCh37 4 1388817 1388817 + missense_variant Missense_Mutation SNP C C G 1000g2011may_all_0.1284 P16_Pri Untested WXS Illumina HiSeq 90 11 25 1 ENST00000324803.4:c.518C>G p.Pro173Arg p.P173R ENST00000324803 NM_175918.3 173 cCa/cGa 0 -CRIPAK UCSF GRCh37 4 1388819 1388819 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 93 13 29 1 ENST00000324803.4:c.520T>C p.Cys174Arg p.C174R ENST00000324803 NM_175918.3 174 Tgt/Cgt 0 -CT47B1 UCSF GRCh37 X 120009392 120009392 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 31 6 9 0 ENST00000371311.3:c.133A>G p.Met45Val p.M45V ENST00000371311 NM_001145718.1 45 Atg/Gtg 0 -CTPS2 UCSF GRCh37 X 16627738 16627738 + synonymous_variant Silent SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 44 36 100 0 ENST00000359276.4:c.1617G>A p.Pro539= p.P539= ENST00000359276 NM_175859.1 539 ccG/ccA 0 -CYP2D6 UCSF GRCh37 22 42524214 42524215 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P16_Pri Untested WXS Illumina HiSeq 6 0 ENST00000360608.5:c.805dup p.Arg269ProfsTer5 p.R269Pfs*5 ENST00000360608 NM_000106.5 268 -/C 0 -DIP2A UCSF GRCh37 21 47924280 47924280 + missense_variant Missense_Mutation SNP A A C NOVEL P16_Pri Untested WXS Illumina HiSeq 86 58 203 0 ENST00000417564.2:c.662A>C p.His221Pro p.H221P ENST00000417564 221 cAt/cCt 0 -EPB41L4B UCSF GRCh37 9 111979226 111979226 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 50 44 129 0 ENST00000374566.3:c.1609A>G p.Asn537Asp p.N537D ENST00000374566 NM_019114.3 537 Aac/Gac 0 -EPPK1 UCSF GRCh37 8 144940543 144940543 + synonymous_variant Silent SNP G G A NOVEL P16_Pri Untested WXS Illumina HiSeq 135 16 10 0 ENST00000525985.1:c.6879C>T p.Gly2293= p.G2293= ENST00000525985 NM_031308.2 2293 ggC/ggT 0 -GATA3 UCSF GRCh37 10 8115916 8115916 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 58 9 123 0 ENST00000346208.3:c.1262C>T p.Pro421Leu p.P421L ENST00000346208 421 cCg/cTg 0 -GBA3 UCSF GRCh37 4 22749378 22749378 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 93 11 235 0 ENST00000508166.1:c.746T>C p.Phe249Ser p.F249S ENST00000508166 NM_020973.4 249 tTc/tCc 0 -HLA-C UCSF GRCh37 6 31239602 31239602 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.030,1000g2011may_all_0.1058,snp132_rs1050441 P16_Pri Untested WXS Illumina HiSeq 14 3 9 0 ENST00000376228.5:c.117C>T p.Pro39= p.P39= ENST00000376228 NM_002117.5 39 ccC/ccT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 54 32 148 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KIAA0319 UCSF GRCh37 6 24581174 24581174 + missense_variant Missense_Mutation SNP A A G NOVEL P16_Pri Untested WXS Illumina HiSeq 42 34 214 0 ENST00000378214.3:c.1259T>C p.Val420Ala p.V420A ENST00000378214 NM_014809.3 420 gTc/gCc 0 -KIAA1024 UCSF GRCh37 15 79748599 79748599 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Pri Untested WXS Illumina HiSeq 65 9 124 0 ENST00000305428.3:c.110G>A p.Arg37Gln p.R37Q ENST00000305428 NM_015206.2 37 cGg/cAg 0 -LARP7 UCSF GRCh37 4 113575231 113575231 + synonymous_variant Silent SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 51 33 114 0 ENST00000324052.6:c.1584C>T p.His528= p.H528= ENST00000324052 NM_015454.2 528 caC/caT 0 -LRCH4 UCSF GRCh37 7 100179740 100179740 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 20 19 48 0 ENST00000310300.6:c.416G>A p.Arg139Lys p.R139K ENST00000310300 NM_002319.3 139 aGg/aAg 0 -MATN3 UCSF GRCh37 2 20205936 20205936 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Pri Untested WXS Illumina HiSeq 64 52 153 0 ENST00000407540.3:c.359C>T p.Thr120Met p.T120M ENST00000407540 NM_002381.4 120 aCg/aTg 0 -MYCBP2 UCSF GRCh37 13 77844582 77844582 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 46 31 140 0 ENST00000357337.6:c.923A>G p.Lys308Arg p.K308R ENST00000357337 308 aAg/aGg 0 -PGBD1 UCSF GRCh37 6 28269997 28269997 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 41 40 123 0 ENST00000259883.3:c.2366C>T p.Pro789Leu p.P789L ENST00000259883 789 cCc/cTc 0 -PLD2 UCSF GRCh37 17 4722104 4722104 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Pri Untested WXS Illumina HiSeq 50 6 66 0 ENST00000263088.6:c.2159G>A p.Arg720His p.R720H ENST00000263088 NM_001243108.1 720 cGc/cAc 0 -RGS6 UCSF GRCh37 14 72818887 72818887 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 35 9 60 0 ENST00000553530.1:c.169C>T p.Pro57Ser p.P57S ENST00000553530 NM_004296.5 57 Ccc/Tcc 0 -SCN9A UCSF GRCh37 2 167137077 167137077 + synonymous_variant Silent SNP T T A NOVEL P16_Pri Untested WXS Illumina HiSeq 70 9 132 0 ENST00000303354.6:c.2136A>T p.Pro712= p.P712= ENST00000303354 712 ccA/ccT 0 -SLC29A4 UCSF GRCh37 7 5340228 5340228 + missense_variant Missense_Mutation SNP A A C 1000g2010nov_all_0.042 P16_Pri Untested WXS Illumina HiSeq 47 6 35 1 ENST00000297195.4:c.1385A>C p.Tyr462Ser p.Y462S ENST00000297195 NM_001040661.1 462 tAc/tCc 0 -SLC29A4 UCSF GRCh37 7 5340256 5340256 + synonymous_variant Silent SNP G G A NOVEL P16_Pri Untested WXS Illumina HiSeq 34 6 33 1 ENST00000297195.4:c.1413G>A p.Ala471= p.A471= ENST00000297195 NM_001040661.1 471 gcG/gcA 0 -SMARCA4 UCSF GRCh37 19 11123695 11123695 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Pri somatic WXS Sanger Illumina HiSeq 38 9 81 0 ENST00000344626.4:c.2345G>A p.Gly782Asp p.G782D ENST00000344626 NM_003072.3 782 gGc/gAc 0 -TBC1D9 UCSF GRCh37 4 141578740 141578740 + synonymous_variant Silent SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 88 25 257 0 ENST00000442267.2:c.2148A>G p.Ala716= p.A716= ENST00000442267 NM_015130.2 716 gcA/gcG 0 -TH1L UCSF GRCh37 20 57565028 57565028 + missense_variant Missense_Mutation SNP G G C NOVEL P16_Pri Untested WXS Illumina HiSeq 20 27 63 0 ENST00000602795.1:c.827G>C p.Arg276Pro p.R276P ENST00000602795 NM_198976.2 276 cGc/cCc 0 -TP53 UCSF GRCh37 17 7578535 7578535 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 3 39 44 0 ENST00000269305.4:c.395A>G p.Lys132Arg p.K132R ENST00000269305 NM_001126112.2 132 aAg/aGg 0 -TPSD1 UCSF GRCh37 16 1306346 1306346 + missense_variant Missense_Mutation SNP C C G snp132_rs3865205 P16_Pri Untested WXS Illumina HiSeq 27 9 13 0 ENST00000211076.3:c.65C>G p.Pro22Arg p.P22R ENST00000211076 NM_012217.2 22 cCg/cGg 0 -ZNF595 UCSF GRCh37 4 85996 85997 + non_coding_transcript_exon_variant RNA INS - - A NOVEL P16_Pri Untested WXS Illumina HiSeq 6 0 ENST00000380882.5:n.377dup *126* ENST00000380882 0 -ABR UCSF GRCh37 17 953786 953786 + synonymous_variant Silent SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 28 11 61 0 ENST00000302538.5:c.1650G>A p.Lys550= p.K550= ENST00000302538 NM_021962.3 550 aaG/aaA 0 -ANKRD30B UCSF GRCh37 18 14852419 14852419 + missense_variant Missense_Mutation SNP A A T NOVEL P16_Rec Untested WXS Illumina HiSeq 44 22 102 0 ENST00000358984.4:c.4119A>T p.Glu1373Asp p.E1373D ENST00000358984 NM_001145029.1 1373 gaA/gaT 0 -ATRX UCSF GRCh37 X 76939906 76939907 + frameshift_variant Frame_Shift_Ins INS - - TTACATGCAGTGACCAAGTCCAACAAAGGCTCTGGGTGACAAATGTAGC NOVEL P16_Rec Untested WXS Illumina HiSeq 6 0 ENST00000373344.5:c.841_842insGCTACATTTGTCACCCAGAGCCTTTGTTGGACTTGGTCACTGCATGTAA p.Asn281SerfsTer21 p.N281Sfs*21 ENST00000373344 NM_000489.3 281 aac/aGCTACATTTGTCACCCAGAGCCTTTGTTGGACTTGGTCACTGCATGTAAac 0 -LCOR UCSF GRCh37 10 98744566 98744566 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 58 29 165 0 ENST00000286067.2:c.3419C>T p.Thr1140Met p.T1140M ENST00000286067 NM_015652.2 1140 aCg/aTg 0 -CALN1 UCSF GRCh37 7 71252852 71252852 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Rec Untested WXS Illumina HiSeq 29 19 80 0 ENST00000329008.5:c.568C>T p.Arg190Trp p.R190W ENST00000329008 NM_001017440.2 190 Cgg/Tgg 0 -COL6A3 UCSF GRCh37 2 238289831 238289831 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 76 12 138 0 ENST00000295550.4:c.1624G>A p.Gly542Ser p.G542S ENST00000295550 NM_004369.3 542 Ggc/Agc 0 -CRIPAK UCSF GRCh37 4 1388817 1388817 + missense_variant Missense_Mutation SNP C C G 1000g2011may_all_0.1284 P16_Rec Untested WXS Illumina HiSeq 58 16 25 1 ENST00000324803.4:c.518C>G p.Pro173Arg p.P173R ENST00000324803 NM_175918.3 173 cCa/cGa 0 -CRIPAK UCSF GRCh37 4 1388819 1388819 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Rec Untested WXS Illumina HiSeq 58 16 29 1 ENST00000324803.4:c.520T>C p.Cys174Arg p.C174R ENST00000324803 NM_175918.3 174 Tgt/Cgt 0 -CTPS2 UCSF GRCh37 X 16627738 16627738 + synonymous_variant Silent SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 45 31 100 0 ENST00000359276.4:c.1617G>A p.Pro539= p.P539= ENST00000359276 NM_175859.1 539 ccG/ccA 0 -CYP2D6 UCSF GRCh37 22 42524214 42524215 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P16_Rec Untested WXS Illumina HiSeq 9 0 ENST00000360608.5:c.805dup p.Arg269ProfsTer5 p.R269Pfs*5 ENST00000360608 NM_000106.5 268 -/C 0 -DIP2A UCSF GRCh37 21 47924280 47924280 + missense_variant Missense_Mutation SNP A A C NOVEL P16_Rec Untested WXS Illumina HiSeq 84 62 203 0 ENST00000417564.2:c.662A>C p.His221Pro p.H221P ENST00000417564 221 cAt/cCt 0 -DMD UCSF GRCh37 X 31792227 31792227 + synonymous_variant Silent SNP G G A NOVEL P16_Rec Untested WXS Illumina HiSeq 75 15 128 0 ENST00000357033.4:c.7392C>T p.Ser2464= p.S2464= ENST00000357033 NM_004007.2 2464 tcC/tcT 0 -DUX2 UCSF GRCh37 4 190989668 190989668 + non_coding_transcript_exon_variant RNA SNP C C G 1000g2010nov_all_0.054 P16_Rec Untested WXS Illumina HiSeq 63 8 40 1 ENST00000536428.1:n.873C>G *291* ENST00000536428 0 -EPB41L4B UCSF GRCh37 9 111979226 111979226 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Rec Untested WXS Illumina HiSeq 60 41 129 0 ENST00000374566.3:c.1609A>G p.Asn537Asp p.N537D ENST00000374566 NM_019114.3 537 Aac/Gac 0 -EPPK1 UCSF GRCh37 8 144940543 144940543 + synonymous_variant Silent SNP G G A NOVEL P16_Rec Untested WXS Illumina HiSeq 46 7 10 0 ENST00000525985.1:c.6879C>T p.Gly2293= p.G2293= ENST00000525985 NM_031308.2 2293 ggC/ggT 0 -FSCB UCSF GRCh37 14 44974261 44974261 + missense_variant Missense_Mutation SNP C C A NOVEL P16_Rec Untested WXS Illumina HiSeq 14 4 51 1 ENST00000340446.4:c.1930G>T p.Ala644Ser p.A644S ENST00000340446 NM_032135.3 644 Gct/Tct 0 -GBP4 UCSF GRCh37 1 89651065 89651065 + missense_variant Missense_Mutation SNP T T A NOVEL P16_Rec Untested WXS Illumina HiSeq 96 37 176 0 ENST00000355754.6:c.1795A>T p.Ser599Cys p.S599C ENST00000355754 NM_052941.4 599 Agc/Tgc 0 -HIRIP3 UCSF GRCh37 16 30006689 30006689 + missense_variant Missense_Mutation SNP A A C NOVEL P16_Rec Untested WXS Illumina HiSeq 21 6 25 2 ENST00000279392.3:c.161T>G p.Val54Gly p.V54G ENST00000279392 NM_003609.4 54 gTg/gGg 0 -HLA-B UCSF GRCh37 6 31324104 31324104 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.092,1000g2011may_all_0.1271,snp132_rs17839985 P16_Rec Untested WXS Illumina HiSeq 18 5 26 1 ENST00000412585.2:c.459C>T p.Asp153= p.D153= ENST00000412585 NM_005514.6 153 gaC/gaT 0 -HLA-C UCSF GRCh37 6 31239602 31239602 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.030,1000g2011may_all_0.1058,snp132_rs1050441 P16_Rec Untested WXS Illumina HiSeq 8 7 9 0 ENST00000376228.5:c.117C>T p.Pro39= p.P39= ENST00000376228 NM_002117.5 39 ccC/ccT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 52 29 148 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LARP7 UCSF GRCh37 4 113575231 113575231 + synonymous_variant Silent SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 65 41 114 0 ENST00000324052.6:c.1584C>T p.His528= p.H528= ENST00000324052 NM_015454.2 528 caC/caT 0 -LRCH4 UCSF GRCh37 7 100179740 100179740 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 20 18 48 0 ENST00000310300.6:c.416G>A p.Arg139Lys p.R139K ENST00000310300 NM_002319.3 139 aGg/aAg 0 -MATN3 UCSF GRCh37 2 20205936 20205936 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Rec Untested WXS Illumina HiSeq 64 48 153 0 ENST00000407540.3:c.359C>T p.Thr120Met p.T120M ENST00000407540 NM_002381.4 120 aCg/aTg 0 -MGAT5 UCSF GRCh37 2 135185961 135185961 + missense_variant Missense_Mutation SNP T T G NOVEL P16_Rec Untested WXS Illumina HiSeq 49 23 120 0 ENST00000281923.2:c.1820T>G p.Phe607Cys p.F607C ENST00000281923 NM_002410.4 607 tTt/tGt 0 -MS4A6A UCSF GRCh37 11 59949075 59949075 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0028,snp132_rs113133013 P16_Rec Untested WXS Illumina HiSeq 81 46 151 0 ENST00000530839.1:c.126C>T p.His42= p.H42= ENST00000530839 NM_152852.2 42 caC/caT 0 -MYCBP2 UCSF GRCh37 13 77844582 77844582 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Rec Untested WXS Illumina HiSeq 37 41 140 0 ENST00000357337.6:c.923A>G p.Lys308Arg p.K308R ENST00000357337 308 aAg/aGg 0 -NAV3 UCSF GRCh37 12 78513514 78513514 + missense_variant Missense_Mutation SNP G G C NOVEL P16_Rec Untested WXS Illumina HiSeq 64 31 129 0 ENST00000397909.2:c.3538G>C p.Glu1180Gln p.E1180Q ENST00000397909 NM_001024383.1 1180 Gaa/Caa 0 -NBPF3 UCSF GRCh37 1 21806606 21806606 + missense_variant Missense_Mutation SNP T T G NOVEL P16_Rec Untested WXS Illumina HiSeq 68 8 138 1 ENST00000318249.5:c.1271T>G p.Phe424Cys p.F424C ENST00000318249 NM_032264.4 424 tTt/tGt 0 -ODZ1 UCSF GRCh37 X 124097540 124097540 + synonymous_variant Silent SNP T T A NOVEL P16_Rec Untested WXS Illumina HiSeq 152 18 247 0 ENST00000371130.3:c.63A>T p.Leu21= p.L21= ENST00000371130 NM_014253.3 21 ctA/ctT 0 -PARP3 UCSF GRCh37 3 51979175 51979175 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Rec Untested WXS Illumina HiSeq 38 7 97 0 ENST00000417220.2:c.796G>A p.Gly266Ser p.G266S ENST00000417220 266 Ggc/Agc 0 -PGBD1 UCSF GRCh37 6 28269997 28269997 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 54 42 123 0 ENST00000259883.3:c.2366C>T p.Pro789Leu p.P789L ENST00000259883 789 cCc/cTc 0 -PLEKHG3 UCSF GRCh37 14 65208349 65208349 + missense_variant Missense_Mutation SNP A A G NOVEL P16_Rec Untested WXS Illumina HiSeq 47 16 95 0 ENST00000394691.1:c.2114A>G p.Lys705Arg p.K705R ENST00000394691 705 aAg/aGg 0 -PLXNA3 UCSF GRCh37 X 153698095 153698095 + missense_variant Missense_Mutation SNP C C A NOVEL P16_Rec Untested WXS Illumina HiSeq 25 7 61 0 ENST00000369682.3:c.4763C>A p.Ser1588Tyr p.S1588Y ENST00000369682 NM_017514.3 1588 tCc/tAc 0 -PTPRK UCSF GRCh37 6 128385918 128385918 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Rec Untested WXS Illumina HiSeq 71 17 99 0 ENST00000368215.3:c.2179C>T p.Arg727Cys p.R727C ENST00000368215 727 Cgc/Tgc 0 -SLC39A12 UCSF GRCh37 10 18292136 18292136 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Rec Untested WXS Illumina HiSeq 131 35 172 0 ENST00000377369.2:c.1796T>C p.Met599Thr p.M599T ENST00000377369 NM_001145195.1 599 aTg/aCg 0 -TH1L UCSF GRCh37 20 57565028 57565028 + missense_variant Missense_Mutation SNP G G C NOVEL P16_Rec Untested WXS Illumina HiSeq 17 16 63 0 ENST00000602795.1:c.827G>C p.Arg276Pro p.R276P ENST00000602795 NM_198976.2 276 cGc/cCc 0 -TP53 UCSF GRCh37 17 7578535 7578535 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Rec Untested WXS Illumina HiSeq 6 25 44 0 ENST00000269305.4:c.395A>G p.Lys132Arg p.K132R ENST00000269305 NM_001126112.2 132 aAg/aGg 0 -TPSD1 UCSF GRCh37 16 1306346 1306346 + missense_variant Missense_Mutation SNP C C G snp132_rs3865205 P16_Rec Untested WXS Illumina HiSeq 19 14 13 0 ENST00000211076.3:c.65C>G p.Pro22Arg p.P22R ENST00000211076 NM_012217.2 22 cCg/cGg 0 -TSR1 UCSF GRCh37 17 2234404 2234404 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 78 30 124 0 ENST00000301364.5:c.1497-1G>A p.X499_splice ENST00000301364 NM_018128.4 0 -ZCCHC14 UCSF GRCh37 16 87451327 87451327 + synonymous_variant Silent SNP A A C NOVEL P16_Rec Untested WXS Illumina HiSeq 31 8 16 1 ENST00000268616.4:c.711T>G p.Gly237= p.G237= ENST00000268616 NM_015144.2 237 ggT/ggG 0 -ZNF560 UCSF GRCh37 19 9578900 9578900 + synonymous_variant Silent SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 112 16 163 0 ENST00000301480.4:c.723G>A p.Thr241= p.T241= ENST00000301480 NM_152476.2 241 acG/acA 0 -ABCA10 UCSF GRCh37 17 67170804 67170804 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Pri_A somatic WXS Sanger Illumina HiSeq 165 142 240 0 ENST00000269081.4:c.2992A>C p.Ile998Leu p.I998L ENST00000269081 NM_080282.3 998 Att/Ctt 0 -ANKRD33 UCSF GRCh37 12 52283232 52283232 + synonymous_variant Silent SNP C C A NOVEL P17_Pri_A Untested WXS Illumina HiSeq 66 59 119 1 ENST00000340970.4:c.198C>A p.Leu66= p.L66= ENST00000340970 66 ctC/ctA 0 -ATRX UCSF GRCh37 X 76937641 76937645 + frameshift_variant Frame_Shift_Del DEL TTAAT TTAAT - NOVEL P17_Pri_A Untested WXS Illumina HiSeq 105 0 ENST00000373344.5:c.3103_3107del p.Ile1035GlufsTer5 p.I1035Efs*5 ENST00000373344 NM_000489.3 1035 ATTAAg/g 0 -C7orf10 UCSF GRCh37 7 40221586 40221586 + stop_gained Nonsense_Mutation SNP T T G NOVEL P17_Pri_A Untested WXS Illumina HiSeq 67 46 93 0 ENST00000335693.4:c.206T>G p.Leu69Ter p.L69* ENST00000335693 NM_001193313.1 69 tTa/tGa 0 -CD24 UCSF GRCh37 Y 21154569 21154569 + non_coding_transcript_exon_variant RNA SNP A A G snp132_rs17855271 P17_Pri_A Untested WXS Illumina HiSeq 20 4 22 1 ENST00000382840.3:n.27T>C *9* ENST00000382840 0 -CD3EAP UCSF GRCh37 19 45911872 45911873 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P17_Pri_A Untested WXS Illumina HiSeq 18 0 ENST00000309424.3:c.653dup p.Asn218LysfsTer58 p.N218Kfs*58 ENST00000309424 NM_012099.1 216 aaa/aAaa 0 -CECR5 UCSF GRCh37 22 17619009 17619009 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Pri_A Untested WXS Illumina HiSeq 78 31 82 0 ENST00000336737.4:c.1174T>C p.Cys392Arg p.C392R ENST00000336737 NM_033070.2 392 Tgc/Cgc 0 -GPR128 UCSF GRCh37 3 100349558 100349558 + missense_variant Missense_Mutation SNP G G C NOVEL P17_Pri_A Untested WXS Illumina HiSeq 68 41 83 0 ENST00000273352.3:c.239G>C p.Cys80Ser p.C80S ENST00000273352 NM_032787.2 80 tGt/tCt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Pri_A Untested WXS Illumina HiSeq 90 69 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LRRC16B UCSF GRCh37 14 24531921 24531921 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Pri_A Untested WXS Illumina HiSeq 46 39 72 0 ENST00000342740.5:c.2572C>T p.Arg858Trp p.R858W ENST00000342740 NM_138360.3 858 Cgg/Tgg 0 -MED20 UCSF GRCh37 6 41875026 41875026 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P17_Pri_A somatic WXS Sanger Illumina HiSeq 59 15 47 0 ENST00000265350.4:c.424-1G>A p.X142_splice ENST00000265350 NM_004275.3 0 -NOTCH4 UCSF GRCh37 6 32170335 32170335 + missense_variant Missense_Mutation SNP G G C NOVEL P17_Pri_A Untested WXS Illumina HiSeq 22 3 33 0 ENST00000375023.3:c.3273C>G p.Cys1091Trp p.C1091W ENST00000375023 NM_004557.3 1091 tgC/tgG 0 -RFX7 UCSF GRCh37 15 56385946 56385946 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Pri_A Untested WXS Illumina HiSeq 171 140 322 0 ENST00000559447.2:c.3689A>G p.Asn1230Ser p.N1230S ENST00000559447 1230 aAt/aGt 0 -SLC4A3 UCSF GRCh37 2 220497665 220497665 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Pri_A Untested WXS Illumina HiSeq 49 10 64 0 ENST00000317151.3:c.1211T>C p.Ile404Thr p.I404T ENST00000317151 404 aTt/aCt 0 -SOX8 UCSF GRCh37 16 1035205 1035205 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Pri_A somatic WXS Sanger Illumina HiSeq 30 5 28 0 ENST00000293894.3:c.1160A>G p.Gln387Arg p.Q387R ENST00000293894 NM_014587.3 387 cAg/cGg 0 -TMEM131 UCSF GRCh37 2 98388775 98388775 + missense_variant Missense_Mutation SNP G G T NOVEL P17_Pri_A Untested WXS Illumina HiSeq 215 174 334 0 ENST00000186436.5:c.4433C>A p.Thr1478Lys p.T1478K ENST00000186436 NM_015348.1 1478 aCa/aAa 0 -TP53 UCSF GRCh37 17 7578403 7578403 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Pri_A somatic WXS Sanger Illumina HiSeq 17 111 73 0 ENST00000269305.4:c.527G>T p.Cys176Phe p.C176F ENST00000269305 NM_001126112.2 176 tGc/tTc 0 -ZNF628 UCSF GRCh37 19 55993060 55993060 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Pri_A Untested WXS Illumina HiSeq 49 45 63 0 ENST00000598519.1:c.500G>A p.Arg167His p.R167H ENST00000598519 NM_033113.2 167 cGc/cAc 0 -ABCA10 UCSF GRCh37 17 67170804 67170804 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Pri_B somatic WXS Sanger Illumina HiSeq 172 122 240 0 ENST00000269081.4:c.2992A>C p.Ile998Leu p.I998L ENST00000269081 NM_080282.3 998 Att/Ctt 0 -ANKRD33 UCSF GRCh37 12 52283232 52283232 + synonymous_variant Silent SNP C C A NOVEL P17_Pri_B Untested WXS Illumina HiSeq 77 57 119 1 ENST00000340970.4:c.198C>A p.Leu66= p.L66= ENST00000340970 66 ctC/ctA 0 -ATRX UCSF GRCh37 X 76937641 76937645 + frameshift_variant Frame_Shift_Del DEL TTAAT TTAAT - NOVEL P17_Pri_B Untested WXS Illumina HiSeq 107 0 ENST00000373344.5:c.3103_3107del p.Ile1035GlufsTer5 p.I1035Efs*5 ENST00000373344 NM_000489.3 1035 ATTAAg/g 0 -C7orf10 UCSF GRCh37 7 40221586 40221586 + stop_gained Nonsense_Mutation SNP T T G NOVEL P17_Pri_B Untested WXS Illumina HiSeq 54 36 93 0 ENST00000335693.4:c.206T>G p.Leu69Ter p.L69* ENST00000335693 NM_001193313.1 69 tTa/tGa 0 -CD3EAP UCSF GRCh37 19 45911872 45911873 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P17_Pri_B Untested WXS Illumina HiSeq 39 0 ENST00000309424.3:c.653dup p.Asn218LysfsTer58 p.N218Kfs*58 ENST00000309424 NM_012099.1 216 aaa/aAaa 0 -CECR5 UCSF GRCh37 22 17619009 17619009 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Pri_B Untested WXS Illumina HiSeq 44 35 82 0 ENST00000336737.4:c.1174T>C p.Cys392Arg p.C392R ENST00000336737 NM_033070.2 392 Tgc/Cgc 0 -GPR128 UCSF GRCh37 3 100349558 100349558 + missense_variant Missense_Mutation SNP G G C NOVEL P17_Pri_B Untested WXS Illumina HiSeq 47 44 83 0 ENST00000273352.3:c.239G>C p.Cys80Ser p.C80S ENST00000273352 NM_032787.2 80 tGt/tCt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Pri_B Untested WXS Illumina HiSeq 52 50 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LRRC16B UCSF GRCh37 14 24531921 24531921 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Pri_B Untested WXS Illumina HiSeq 41 47 72 0 ENST00000342740.5:c.2572C>T p.Arg858Trp p.R858W ENST00000342740 NM_138360.3 858 Cgg/Tgg 0 -RFX7 UCSF GRCh37 15 56385946 56385946 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Pri_B Untested WXS Illumina HiSeq 251 208 322 0 ENST00000559447.2:c.3689A>G p.Asn1230Ser p.N1230S ENST00000559447 1230 aAt/aGt 0 -TMEM131 UCSF GRCh37 2 98388775 98388775 + missense_variant Missense_Mutation SNP G G T NOVEL P17_Pri_B Untested WXS Illumina HiSeq 265 193 334 0 ENST00000186436.5:c.4433C>A p.Thr1478Lys p.T1478K ENST00000186436 NM_015348.1 1478 aCa/aAa 0 -TP53 UCSF GRCh37 17 7578403 7578403 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Pri_B somatic WXS Sanger Illumina HiSeq 17 101 73 0 ENST00000269305.4:c.527G>T p.Cys176Phe p.C176F ENST00000269305 NM_001126112.2 176 tGc/tTc 0 -ZNF628 UCSF GRCh37 19 55993060 55993060 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Pri_B Untested WXS Illumina HiSeq 48 33 63 0 ENST00000598519.1:c.500G>A p.Arg167His p.R167H ENST00000598519 NM_033113.2 167 cGc/cAc 0 -ABCA10 UCSF GRCh37 17 67170804 67170804 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Pri_C somatic WXS Sanger Illumina HiSeq 139 115 240 0 ENST00000269081.4:c.2992A>C p.Ile998Leu p.I998L ENST00000269081 NM_080282.3 998 Att/Ctt 0 -ANKRD33 UCSF GRCh37 12 52283232 52283232 + synonymous_variant Silent SNP C C A NOVEL P17_Pri_C Untested WXS Illumina HiSeq 62 57 119 1 ENST00000340970.4:c.198C>A p.Leu66= p.L66= ENST00000340970 66 ctC/ctA 0 -ATRX UCSF GRCh37 X 76937641 76937645 + frameshift_variant Frame_Shift_Del DEL TTAAT TTAAT - NOVEL P17_Pri_C Untested WXS Illumina HiSeq 105 0 ENST00000373344.5:c.3103_3107del p.Ile1035GlufsTer5 p.I1035Efs*5 ENST00000373344 NM_000489.3 1035 ATTAAg/g 0 -C7orf10 UCSF GRCh37 7 40221586 40221586 + stop_gained Nonsense_Mutation SNP T T G NOVEL P17_Pri_C Untested WXS Illumina HiSeq 44 36 93 0 ENST00000335693.4:c.206T>G p.Leu69Ter p.L69* ENST00000335693 NM_001193313.1 69 tTa/tGa 0 -CD3EAP UCSF GRCh37 19 45911872 45911873 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P17_Pri_C Untested WXS Illumina HiSeq 24 0 ENST00000309424.3:c.653dup p.Asn218LysfsTer58 p.N218Kfs*58 ENST00000309424 NM_012099.1 216 aaa/aAaa 0 -CECR5 UCSF GRCh37 22 17619009 17619009 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Pri_C Untested WXS Illumina HiSeq 48 35 82 0 ENST00000336737.4:c.1174T>C p.Cys392Arg p.C392R ENST00000336737 NM_033070.2 392 Tgc/Cgc 0 -GPR128 UCSF GRCh37 3 100349558 100349558 + missense_variant Missense_Mutation SNP G G C NOVEL P17_Pri_C Untested WXS Illumina HiSeq 42 26 83 0 ENST00000273352.3:c.239G>C p.Cys80Ser p.C80S ENST00000273352 NM_032787.2 80 tGt/tCt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Pri_C Untested WXS Illumina HiSeq 67 48 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LRRC16B UCSF GRCh37 14 24531921 24531921 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Pri_C Untested WXS Illumina HiSeq 57 45 72 0 ENST00000342740.5:c.2572C>T p.Arg858Trp p.R858W ENST00000342740 NM_138360.3 858 Cgg/Tgg 0 -RFX7 UCSF GRCh37 15 56385946 56385946 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Pri_C Untested WXS Illumina HiSeq 224 175 322 0 ENST00000559447.2:c.3689A>G p.Asn1230Ser p.N1230S ENST00000559447 1230 aAt/aGt 0 -TMEM131 UCSF GRCh37 2 98388775 98388775 + missense_variant Missense_Mutation SNP G G T NOVEL P17_Pri_C Untested WXS Illumina HiSeq 276 159 334 0 ENST00000186436.5:c.4433C>A p.Thr1478Lys p.T1478K ENST00000186436 NM_015348.1 1478 aCa/aAa 0 -TP53 UCSF GRCh37 17 7578403 7578403 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Pri_C somatic WXS Sanger Illumina HiSeq 9 105 73 0 ENST00000269305.4:c.527G>T p.Cys176Phe p.C176F ENST00000269305 NM_001126112.2 176 tGc/tTc 0 -ZNF628 UCSF GRCh37 19 55993060 55993060 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Pri_C Untested WXS Illumina HiSeq 48 49 63 0 ENST00000598519.1:c.500G>A p.Arg167His p.R167H ENST00000598519 NM_033113.2 167 cGc/cAc 0 -ABCC9 UCSF GRCh37 12 21954093 21954093 + downstream_gene_variant 3'Flank SNP G G A NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 133 43 151 0 ENST00000261201 NM_005691.2 0 -ADAMTSL1 UCSF GRCh37 9 18795416 18795416 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 83 0 ENST00000380548.4:c.3700del p.Ser1234ProfsTer34 p.S1234Pfs*34 ENST00000380548 NM_001040272.5 1233 gaT/ga 0 -APLF UCSF GRCh37 2 68765111 68765111 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 149 22 118 0 ENST00000303795.4:c.912T>C p.Val304= p.V304= ENST00000303795 NM_173545.2 304 gtT/gtC 0 -ARNT UCSF GRCh37 1 150795783 150795783 + missense_variant Missense_Mutation SNP G G T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 222 46 187 0 ENST00000358595.5:c.1281C>A p.Phe427Leu p.F427L ENST00000358595 NM_178427.2 427 ttC/ttA 0 -ATP2B4 UCSF GRCh37 1 203677182 203677182 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 156 119 224 0 ENST00000357681.5:c.1507C>T p.Leu503Phe p.L503F ENST00000357681 NM_001684.4 503 Ctc/Ttc 0 -ATRX UCSF GRCh37 X 76952141 76952148 + frameshift_variant Frame_Shift_Del DEL CAAAGGTT CAAAGGTT - NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 117 0 ENST00000373344.5:c.287_294del p.Lys96ArgfsTer2 p.K96Rfs*2 ENST00000373344 NM_000489.3 96 aAACCTTTG/a 0 -BCL11B UCSF GRCh37 14 99641792 99641792 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 38 9 34 0 ENST00000357195.3:c.1381G>A p.Asp461Asn p.D461N ENST00000357195 NM_138576.2 461 Gac/Aac 0 -BRD4 UCSF GRCh37 19 15354224 15354224 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 6 11 9 0 ENST00000263377.2:c.2656C>T p.Arg886Trp p.R886W ENST00000263377 NM_058243.2 886 Cgg/Tgg 0 -C19orf2 UCSF GRCh37 19 30503247 30503247 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 229 40 210 1 ENST00000392271.1:c.1006T>C p.Ser336Pro p.S336P ENST00000392271 NM_003796.3 336 Tct/Cct 0 -CARD6 UCSF GRCh37 5 40852331 40852331 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 120 47 138 0 ENST00000254691.5:c.897A>G p.Arg299= p.R299= ENST00000254691 NM_032587.3 299 agA/agG 0 -CDHR3 UCSF GRCh37 7 105662691 105662691 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0014 P17_Rec1_A Untested WXS Illumina HiSeq 317 63 338 0 ENST00000317716.9:c.1873G>A p.Val625Ile p.V625I ENST00000317716 NM_152750.4 625 Gtc/Atc 0 -CHORDC1 UCSF GRCh37 11 89943710 89943710 + missense_variant Missense_Mutation SNP A A C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 126 53 76 0 ENST00000320585.6:c.486T>G p.Cys162Trp p.C162W ENST00000320585 NM_012124.2 162 tgT/tgG 0 -CLTC UCSF GRCh37 17 57758404 57758404 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 229 41 208 0 ENST00000269122.3:c.3051A>G p.Val1017= p.V1017= ENST00000269122 NM_004859.3 1017 gtA/gtG 0 -CRTAP UCSF GRCh37 3 33183903 33183903 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 76 33 128 0 ENST00000320954.6:c.1169A>G p.Tyr390Cys p.Y390C ENST00000320954 NM_006371.4 390 tAt/tGt 0 -CUL4A UCSF GRCh37 13 113889388 113889388 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 130 24 111 0 ENST00000375440.4:c.777T>C p.Tyr259= p.Y259= ENST00000375440 NM_001008895.2 259 taT/taC 0 -DIDO1 UCSF GRCh37 20 61513252 61513252 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 120 98 187 0 ENST00000266070.4:c.4056C>T p.Asp1352= p.D1352= ENST00000266070 NM_033081.2 1352 gaC/gaT 0 -FAT1 UCSF GRCh37 4 187518024 187518024 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0022 P17_Rec1_A somatic WXS Sanger Illumina HiSeq 236 65 285 0 ENST00000441802.2:c.12670G>A p.Ala4224Thr p.A4224T ENST00000441802 NM_005245.3 4224 Gct/Act 0 -FRG1 UCSF GRCh37 4 190878556 190878557 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 8 0 ENST00000226798.4:c.439dup p.Met147AsnfsTer8 p.M147Nfs*8 ENST00000226798 NM_004477.2 146 aaa/aAaa 0 -FRG1 UCSF GRCh37 4 190878542 190878571 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site INS GTTTCACTTAGGGGAAAATGGCTTTGTTGG GTTTCACTTAGGGGAAAATGGCTTTGTTGG TGTTTCACTTAGGGGAAAATGGCTTTGTCGA NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 6 0 ENST00000226798.4:c.433-11_451delinsTGTTTCACTTAGGGGAAAATGGCTTTGTCGA p.X145_splice ENST00000226798 NM_004477.2 0 -GPR142 UCSF GRCh37 17 72363835 72363835 + missense_variant Missense_Mutation SNP G G T NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 96 13 99 0 ENST00000335666.4:c.191G>T p.Gly64Val p.G64V ENST00000335666 NM_181790.1 64 gGa/gTa 0 -HEPH UCSF GRCh37 X 65409555 65409555 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 27 102 100 0 ENST00000343002.2:c.838C>A p.Pro280Thr p.P280T ENST00000343002 280 Cct/Act 0 -HYAL4 UCSF GRCh37 7 123517035 123517035 + synonymous_variant Silent SNP A A T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 224 48 193 0 ENST00000223026.4:c.1272A>T p.Thr424= p.T424= ENST00000223026 NM_012269.2 424 acA/acT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 99 114 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL23R UCSF GRCh37 1 67724210 67724210 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 261 60 260 0 ENST00000347310.5:c.1289T>C p.Val430Ala p.V430A ENST00000347310 NM_144701.2 430 gTt/gCt 0 -KCNK15 UCSF GRCh37 20 43379023 43379023 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 70 8 60 0 ENST00000372861.3:c.537G>A p.Ser179= p.S179= ENST00000372861 NM_022358.3 179 tcG/tcA 0 -KIAA1383 UCSF GRCh37 1 232941658 232941658 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 31 17 38 0 ENST00000418460.1:c.889T>G p.Ser297Ala p.S297A ENST00000418460 NM_019090.2 297 Tcc/Gcc 0 -MDH1B UCSF GRCh37 2 207621736 207621736 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 206 29 157 0 ENST00000374412.3:c.299C>T p.Thr100Met p.T100M ENST00000374412 NM_001039845.1 100 aCg/aTg 0 -MYO7B UCSF GRCh37 2 128331590 128331590 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 200 40 194 0 ENST00000409816.2:c.688G>A p.Ala230Thr p.A230T ENST00000409816 230 Gcg/Acg 0 -PIK3CA UCSF GRCh37 3 178952085 178952085 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 134 31 156 0 ENST00000263967.3:c.3140A>G p.His1047Arg p.H1047R ENST00000263967 NM_006218.2 1047 cAt/cGt 0 -RAD54B UCSF GRCh37 8 95390425 95390425 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 49 37 71 0 ENST00000336148.5:c.2498G>A p.Gly833Glu p.G833E ENST00000336148 NM_012415.3 833 gGa/gAa 0 -SDAD1 UCSF GRCh37 4 76902575 76902575 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 153 34 100 0 ENST00000356260.5:c.244A>G p.Lys82Glu p.K82E ENST00000356260 NM_018115.2 82 Aaa/Gaa 0 -SHISA9 UCSF GRCh37 16 13010641 13010641 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 176 54 175 0 ENST00000558583.1:c.783C>T p.Asn261= p.N261= ENST00000558583 NM_001145204.2 261 aaC/aaT 0 -SHKBP1 UCSF GRCh37 19 41096697 41096697 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 61 54 94 0 ENST00000291842.5:c.1830G>A p.Pro610= p.P610= ENST00000291842 NM_138392.3 610 ccG/ccA 0 -SLC22A25 UCSF GRCh37 11 62951251 62951251 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 270 106 193 0 ENST00000306494.6:c.869A>G p.Asn290Ser p.N290S ENST00000306494 NM_199352.3 290 aAc/aGc 0 -SPAG17 UCSF GRCh37 1 118584652 118584652 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 140 104 209 0 ENST00000336338.5:c.2828A>G p.Glu943Gly p.E943G ENST00000336338 NM_206996.2 943 gAg/gGg 0 -SPTLC1 UCSF GRCh37 9 94817753 94817753 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 140 20 115 0 ENST00000262554.2:c.714T>C p.Thr238= p.T238= ENST00000262554 NM_001281303.1 238 acT/acC 0 -TMEM63B UCSF GRCh37 6 44122598 44122598 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 56 33 66 0 ENST00000259746.9:c.2477T>C p.Ile826Thr p.I826T ENST00000259746 826 aTa/aCa 0 -TP53 UCSF GRCh37 17 7578550 7578550 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 12 48 42 0 ENST00000269305.4:c.380C>T p.Ser127Phe p.S127F ENST00000269305 NM_001126112.2 127 tCc/tTc 0 -TSHB UCSF GRCh37 1 115576706 115576706 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 301 50 282 0 ENST00000256592.1:c.275C>A p.Ala92Asp p.A92D ENST00000256592 NM_000549.4 92 gCt/gAt 0 -ZNF211 UCSF GRCh37 19 58152143 58152143 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 174 33 137 0 ENST00000347302.3:c.289T>C p.Phe97Leu p.F97L ENST00000347302 NM_198855.2 97 Ttc/Ctc 0 -ABCC9 UCSF GRCh37 12 21954093 21954093 + downstream_gene_variant 3'Flank SNP G G A NOVEL P17_Rec1_B somatic WXS Sanger Illumina HiSeq 91 30 151 0 ENST00000261201 NM_005691.2 0 -ADAMTS3 UCSF GRCh37 4 73149155 73149155 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 189 54 182 0 ENST00000286657.4:c.3316A>G p.Ile1106Val p.I1106V ENST00000286657 NM_014243.2 1106 Atc/Gtc 0 -ADAMTSL1 UCSF GRCh37 9 18795416 18795416 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 67 0 ENST00000380548.4:c.3700del p.Ser1234ProfsTer34 p.S1234Pfs*34 ENST00000380548 NM_001040272.5 1233 gaT/ga 0 -ASCC2 UCSF GRCh37 22 30198032 30198032 + stop_gained Nonsense_Mutation SNP C C A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 43 7 38 0 ENST00000307790.3:c.1519G>T p.Glu507Ter p.E507* ENST00000307790 NM_032204.4 507 Gag/Tag 0 -ATP2B4 UCSF GRCh37 1 203677182 203677182 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 186 118 224 0 ENST00000357681.5:c.1507C>T p.Leu503Phe p.L503F ENST00000357681 NM_001684.4 503 Ctc/Ttc 0 -ATRX UCSF GRCh37 X 76952141 76952148 + frameshift_variant Frame_Shift_Del DEL CAAAGGTT CAAAGGTT - NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 70 0 ENST00000373344.5:c.287_294del p.Lys96ArgfsTer2 p.K96Rfs*2 ENST00000373344 NM_000489.3 96 aAACCTTTG/a 0 -AXL UCSF GRCh37 19 41727930 41727930 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_B somatic WXS Sanger Illumina HiSeq 21 6 14 0 ENST00000301178.4:c.555T>C p.Gly185= p.G185= ENST00000301178 NM_021913.4 185 ggT/ggC 0 -BCL11B UCSF GRCh37 14 99641792 99641792 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 44 10 34 0 ENST00000357195.3:c.1381G>A p.Asp461Asn p.D461N ENST00000357195 NM_138576.2 461 Gac/Aac 0 -BRD4 UCSF GRCh37 19 15354224 15354224 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 11 10 9 0 ENST00000263377.2:c.2656C>T p.Arg886Trp p.R886W ENST00000263377 NM_058243.2 886 Cgg/Tgg 0 -BRIP1 UCSF GRCh37 17 59876511 59876511 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 105 19 162 1 ENST00000259008.2:c.1290A>G p.Ile430Met p.I430M ENST00000259008 NM_032043.2 430 atA/atG 0 -CARD6 UCSF GRCh37 5 40852331 40852331 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 72 18 138 0 ENST00000254691.5:c.897A>G p.Arg299= p.R299= ENST00000254691 NM_032587.3 299 agA/agG 0 -CDHR3 UCSF GRCh37 7 105662691 105662691 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0014 P17_Rec1_B Untested WXS Illumina HiSeq 404 119 338 0 ENST00000317716.9:c.1873G>A p.Val625Ile p.V625I ENST00000317716 NM_152750.4 625 Gtc/Atc 0 -CHORDC1 UCSF GRCh37 11 89943710 89943710 + missense_variant Missense_Mutation SNP A A C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 46 22 76 0 ENST00000320585.6:c.486T>G p.Cys162Trp p.C162W ENST00000320585 NM_012124.2 162 tgT/tgG 0 -CRTAP UCSF GRCh37 3 33183903 33183903 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 42 20 128 0 ENST00000320954.6:c.1169A>G p.Tyr390Cys p.Y390C ENST00000320954 NM_006371.4 390 tAt/tGt 0 -DIDO1 UCSF GRCh37 20 61513252 61513252 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 123 96 187 0 ENST00000266070.4:c.4056C>T p.Asp1352= p.D1352= ENST00000266070 NM_033081.2 1352 gaC/gaT 0 -DNM1L UCSF GRCh37 12 32861097 32861097 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 48 14 78 0 ENST00000549701.1:c.308A>G p.Asp103Gly p.D103G ENST00000549701 103 gAt/gGt 0 -ECI2 UCSF GRCh37 6 4133876 4133876 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 183 35 201 0 ENST00000380118.3:c.120G>A p.Gln40= p.Q40= ENST00000380118 40 caG/caA 0 -FANCA UCSF GRCh37 16 89862354 89862354 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 77 25 118 0 ENST00000389301.3:c.966T>C p.His322= p.H322= ENST00000389301 NM_000135.2 322 caT/caC 0 -FAT1 UCSF GRCh37 4 187518024 187518024 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0022 P17_Rec1_B somatic WXS Sanger Illumina HiSeq 295 72 285 0 ENST00000441802.2:c.12670G>A p.Ala4224Thr p.A4224T ENST00000441802 NM_005245.3 4224 Gct/Act 0 -FAT1 UCSF GRCh37 4 187531037 187531037 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 242 53 246 0 ENST00000441802.2:c.9986A>G p.Asn3329Ser p.N3329S ENST00000441802 NM_005245.3 3329 aAc/aGc 0 -FLAD1 UCSF GRCh37 1 154962825 154962825 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 142 30 120 0 ENST00000292180.3:c.1375C>A p.Gln459Lys p.Q459K ENST00000292180 NM_025207.4 459 Cag/Aag 0 -GORAB UCSF GRCh37 1 170521320 170521320 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 121 33 121 0 ENST00000367763.3:c.902T>C p.Val301Ala p.V301A ENST00000367763 NM_152281.2 301 gTa/gCa 0 -HEPH UCSF GRCh37 X 65409555 65409555 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 19 97 100 0 ENST00000343002.2:c.838C>A p.Pro280Thr p.P280T ENST00000343002 280 Cct/Act 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 75 110 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KAT6B UCSF GRCh37 10 76790463 76790463 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 254 69 210 0 ENST00000287239.4:c.5881A>G p.Met1961Val p.M1961V ENST00000287239 NM_001256468.1 1961 Atg/Gtg 0 -KIAA1383 UCSF GRCh37 1 232941658 232941658 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 29 13 38 0 ENST00000418460.1:c.889T>G p.Ser297Ala p.S297A ENST00000418460 NM_019090.2 297 Tcc/Gcc 0 -MACC1 UCSF GRCh37 7 20199790 20199790 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 86 33 151 0 ENST00000332878.4:c.194A>G p.Asn65Ser p.N65S ENST00000332878 65 aAt/aGt 0 -MBD6 UCSF GRCh37 12 57921732 57921732 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 7 0 ENST00000355673.3:c.2345delG p.Gly782GlufsTer13 p.G782Efs*13 ENST00000355673 NM_052897.3 780 Ggg/gg 0 -MYO7B UCSF GRCh37 2 128331590 128331590 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 178 61 194 0 ENST00000409816.2:c.688G>A p.Ala230Thr p.A230T ENST00000409816 230 Gcg/Acg 0 -PIK3CA UCSF GRCh37 3 178952085 178952085 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_B somatic WXS Sanger Illumina HiSeq 77 42 156 0 ENST00000263967.3:c.3140A>G p.His1047Arg p.H1047R ENST00000263967 NM_006218.2 1047 cAt/cGt 0 -PRKCH UCSF GRCh37 14 61788905 61788905 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 50 15 27 1 ENST00000332981.5:c.86T>C p.Leu29Pro p.L29P ENST00000332981 NM_006255.3 29 cTg/cCg 0 -RAD54B UCSF GRCh37 8 95390425 95390425 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 34 27 71 0 ENST00000336148.5:c.2498G>A p.Gly833Glu p.G833E ENST00000336148 NM_012415.3 833 gGa/gAa 0 -RGPD2 UCSF GRCh37 2 88125234 88125234 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 36 4 23 1 ENST00000398146.3:c.15A>G p.Lys5= p.K5= ENST00000398146 5 aaA/aaG 0 -SHISA9 UCSF GRCh37 16 13010641 13010641 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 136 38 175 0 ENST00000558583.1:c.783C>T p.Asn261= p.N261= ENST00000558583 NM_001145204.2 261 aaC/aaT 0 -SHKBP1 UCSF GRCh37 19 41096697 41096697 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 67 52 94 0 ENST00000291842.5:c.1830G>A p.Pro610= p.P610= ENST00000291842 NM_138392.3 610 ccG/ccA 0 -SLC22A25 UCSF GRCh37 11 62951251 62951251 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 216 102 193 0 ENST00000306494.6:c.869A>G p.Asn290Ser p.N290S ENST00000306494 NM_199352.3 290 aAc/aGc 0 -SORCS2 UCSF GRCh37 4 7691261 7691261 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 75 31 75 0 ENST00000507866.2:c.1537G>A p.Val513Ile p.V513I ENST00000507866 NM_020777.2 513 Gta/Ata 0 -SOX6 UCSF GRCh37 11 16068204 16068204 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_B somatic WXS Sanger Illumina HiSeq 63 26 100 0 ENST00000528429.1:c.1479G>A p.Gln493= p.Q493= ENST00000528429 NM_001145819.1 493 caG/caA 0 -SP6 UCSF GRCh37 17 45924768 45924768 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 22 8 22 0 ENST00000342234.2:c.1028C>T p.Ala343Val p.A343V ENST00000342234 NM_199262.2 343 gCg/gTg 0 -SPAG17 UCSF GRCh37 1 118584652 118584652 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 140 100 209 0 ENST00000336338.5:c.2828A>G p.Glu943Gly p.E943G ENST00000336338 NM_206996.2 943 gAg/gGg 0 -TLN2 UCSF GRCh37 15 63047743 63047743 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 75 30 58 0 ENST00000306829.6:c.4489G>A p.Ala1497Thr p.A1497T ENST00000306829 NM_015059.2 1497 Gcc/Acc 0 -TMEM40 UCSF GRCh37 3 12779654 12779654 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 16 7 47 0 ENST00000264728.8:c.405A>G p.Arg135= p.R135= ENST00000264728 135 agA/agG 0 -TMEM63B UCSF GRCh37 6 44122598 44122598 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 37 32 66 0 ENST00000259746.9:c.2477T>C p.Ile826Thr p.I826T ENST00000259746 826 aTa/aCa 0 -TMPRSS11B UCSF GRCh37 4 69095151 69095151 + missense_variant Missense_Mutation SNP A A C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 123 32 173 0 ENST00000332644.5:c.770T>G p.Ile257Ser p.I257S ENST00000332644 NM_182502.3 257 aTt/aGt 0 -TP53 UCSF GRCh37 17 7578550 7578550 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 3 46 42 0 ENST00000269305.4:c.380C>T p.Ser127Phe p.S127F ENST00000269305 NM_001126112.2 127 tCc/tTc 0 -TTN UCSF GRCh37 2 179641275 179641275 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 136 41 205 0 ENST00000591111.1:c.5316T>C p.Ser1772= p.S1772= ENST00000591111 1772 agT/agC 0 -UGT3A1 UCSF GRCh37 5 35965819 35965819 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 120 35 145 0 ENST00000274278.3:c.512G>T p.Gly171Val p.G171V ENST00000274278 NM_152404.3 171 gGc/gTc 0 -WFDC12 UCSF GRCh37 20 43752784 43752784 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 76 17 78 0 ENST00000372785.3:c.202T>C p.Phe68Leu p.F68L ENST00000372785 NM_080869.1 68 Ttc/Ctc 0 -ABCC9 UCSF GRCh37 12 21954093 21954093 + downstream_gene_variant 3'Flank SNP G G A NOVEL P17_Rec1_C somatic WXS Sanger Illumina HiSeq 97 32 151 0 ENST00000261201 NM_005691.2 0 -ADAMTSL1 UCSF GRCh37 9 18795416 18795416 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 55 0 ENST00000380548.4:c.3700del p.Ser1234ProfsTer34 p.S1234Pfs*34 ENST00000380548 NM_001040272.5 1233 gaT/ga 0 -ARNT UCSF GRCh37 1 150795783 150795783 + missense_variant Missense_Mutation SNP G G T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 108 15 187 0 ENST00000358595.5:c.1281C>A p.Phe427Leu p.F427L ENST00000358595 NM_178427.2 427 ttC/ttA 0 -ATP2B4 UCSF GRCh37 1 203677182 203677182 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 165 86 224 0 ENST00000357681.5:c.1507C>T p.Leu503Phe p.L503F ENST00000357681 NM_001684.4 503 Ctc/Ttc 0 -ATRX UCSF GRCh37 X 76952141 76952148 + frameshift_variant Frame_Shift_Del DEL CAAAGGTT CAAAGGTT - NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 74 0 ENST00000373344.5:c.287_294del p.Lys96ArgfsTer2 p.K96Rfs*2 ENST00000373344 NM_000489.3 96 aAACCTTTG/a 0 -BCL11B UCSF GRCh37 14 99641792 99641792 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 25 12 34 0 ENST00000357195.3:c.1381G>A p.Asp461Asn p.D461N ENST00000357195 NM_138576.2 461 Gac/Aac 0 -BRD4 UCSF GRCh37 19 15354224 15354224 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 9 7 9 0 ENST00000263377.2:c.2656C>T p.Arg886Trp p.R886W ENST00000263377 NM_058243.2 886 Cgg/Tgg 0 -C19orf2 UCSF GRCh37 19 30503247 30503247 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 152 24 210 1 ENST00000392271.1:c.1006T>C p.Ser336Pro p.S336P ENST00000392271 NM_003796.3 336 Tct/Cct 0 -CARD6 UCSF GRCh37 5 40852331 40852331 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 69 18 138 0 ENST00000254691.5:c.897A>G p.Arg299= p.R299= ENST00000254691 NM_032587.3 299 agA/agG 0 -CDHR3 UCSF GRCh37 7 105662691 105662691 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0014 P17_Rec1_C Untested WXS Illumina HiSeq 476 93 338 0 ENST00000317716.9:c.1873G>A p.Val625Ile p.V625I ENST00000317716 NM_152750.4 625 Gtc/Atc 0 -CHORDC1 UCSF GRCh37 11 89943710 89943710 + missense_variant Missense_Mutation SNP A A C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 49 18 76 0 ENST00000320585.6:c.486T>G p.Cys162Trp p.C162W ENST00000320585 NM_012124.2 162 tgT/tgG 0 -CLTC UCSF GRCh37 17 57758404 57758404 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 160 26 208 0 ENST00000269122.3:c.3051A>G p.Val1017= p.V1017= ENST00000269122 NM_004859.3 1017 gtA/gtG 0 -CRTAP UCSF GRCh37 3 33183903 33183903 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 54 14 128 0 ENST00000320954.6:c.1169A>G p.Tyr390Cys p.Y390C ENST00000320954 NM_006371.4 390 tAt/tGt 0 -DIDO1 UCSF GRCh37 20 61513252 61513252 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 152 82 187 0 ENST00000266070.4:c.4056C>T p.Asp1352= p.D1352= ENST00000266070 NM_033081.2 1352 gaC/gaT 0 -FAT1 UCSF GRCh37 4 187518024 187518024 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0022 P17_Rec1_C somatic WXS Sanger Illumina HiSeq 291 87 285 0 ENST00000441802.2:c.12670G>A p.Ala4224Thr p.A4224T ENST00000441802 NM_005245.3 4224 Gct/Act 0 -HEPH UCSF GRCh37 X 65409555 65409555 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 23 76 100 0 ENST00000343002.2:c.838C>A p.Pro280Thr p.P280T ENST00000343002 280 Cct/Act 0 -HYAL4 UCSF GRCh37 7 123517035 123517035 + synonymous_variant Silent SNP A A T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 182 31 193 0 ENST00000223026.4:c.1272A>T p.Thr424= p.T424= ENST00000223026 NM_012269.2 424 acA/acT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 60 77 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL23R UCSF GRCh37 1 67724210 67724210 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 173 39 260 0 ENST00000347310.5:c.1289T>C p.Val430Ala p.V430A ENST00000347310 NM_144701.2 430 gTt/gCt 0 -KCNK15 UCSF GRCh37 20 43379023 43379023 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 123 24 60 0 ENST00000372861.3:c.537G>A p.Ser179= p.S179= ENST00000372861 NM_022358.3 179 tcG/tcA 0 -KIAA1383 UCSF GRCh37 1 232941658 232941658 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 28 17 38 0 ENST00000418460.1:c.889T>G p.Ser297Ala p.S297A ENST00000418460 NM_019090.2 297 Tcc/Gcc 0 -MDH1B UCSF GRCh37 2 207621736 207621736 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_C somatic WXS Sanger Illumina HiSeq 92 14 157 0 ENST00000374412.3:c.299C>T p.Thr100Met p.T100M ENST00000374412 NM_001039845.1 100 aCg/aTg 0 -MYO7B UCSF GRCh37 2 128331590 128331590 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 180 57 194 0 ENST00000409816.2:c.688G>A p.Ala230Thr p.A230T ENST00000409816 230 Gcg/Acg 0 -PIK3CA UCSF GRCh37 3 178952085 178952085 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_C somatic WXS Sanger Illumina HiSeq 88 16 156 0 ENST00000263967.3:c.3140A>G p.His1047Arg p.H1047R ENST00000263967 NM_006218.2 1047 cAt/cGt 0 -RAD54B UCSF GRCh37 8 95390425 95390425 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 40 18 71 0 ENST00000336148.5:c.2498G>A p.Gly833Glu p.G833E ENST00000336148 NM_012415.3 833 gGa/gAa 0 -SDAD1 UCSF GRCh37 4 76902575 76902575 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 72 8 100 0 ENST00000356260.5:c.244A>G p.Lys82Glu p.K82E ENST00000356260 NM_018115.2 82 Aaa/Gaa 0 -SHISA9 UCSF GRCh37 16 13010641 13010641 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 122 27 175 0 ENST00000558583.1:c.783C>T p.Asn261= p.N261= ENST00000558583 NM_001145204.2 261 aaC/aaT 0 -SHKBP1 UCSF GRCh37 19 41096697 41096697 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 64 44 94 0 ENST00000291842.5:c.1830G>A p.Pro610= p.P610= ENST00000291842 NM_138392.3 610 ccG/ccA 0 -SLC22A25 UCSF GRCh37 11 62951251 62951251 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 218 90 193 0 ENST00000306494.6:c.869A>G p.Asn290Ser p.N290S ENST00000306494 NM_199352.3 290 aAc/aGc 0 -SPAG17 UCSF GRCh37 1 118584652 118584652 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 146 87 209 0 ENST00000336338.5:c.2828A>G p.Glu943Gly p.E943G ENST00000336338 NM_206996.2 943 gAg/gGg 0 -TMEM63B UCSF GRCh37 6 44122598 44122598 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 35 24 66 0 ENST00000259746.9:c.2477T>C p.Ile826Thr p.I826T ENST00000259746 826 aTa/aCa 0 -TNFSF9 UCSF GRCh37 19 6535032 6535032 + synonymous_variant Silent SNP G G T NOVEL P17_Rec1_C somatic WXS Sanger Illumina HiSeq 25 6 32 0 ENST00000245817.3:c.720G>T p.Val240= p.V240= ENST00000245817 NM_003811.3 240 gtG/gtT 0 -TP53 UCSF GRCh37 17 7578550 7578550 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 9 38 42 0 ENST00000269305.4:c.380C>T p.Ser127Phe p.S127F ENST00000269305 NM_001126112.2 127 tCc/tTc 0 -TSHB UCSF GRCh37 1 115576706 115576706 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 300 49 282 0 ENST00000256592.1:c.275C>A p.Ala92Asp p.A92D ENST00000256592 NM_000549.4 92 gCt/gAt 0 -ZNF211 UCSF GRCh37 19 58152143 58152143 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C somatic WXS Sanger Illumina HiSeq 130 24 137 0 ENST00000347302.3:c.289T>C p.Phe97Leu p.F97L ENST00000347302 NM_198855.2 97 Ttc/Ctc 0 -ABCC9 UCSF GRCh37 12 21954093 21954093 + downstream_gene_variant 3'Flank SNP G G A NOVEL P17_Rec1_D somatic WXS Sanger Illumina HiSeq 86 44 151 0 ENST00000261201 NM_005691.2 0 -ADAMTS3 UCSF GRCh37 4 73149155 73149155 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 191 57 182 0 ENST00000286657.4:c.3316A>G p.Ile1106Val p.I1106V ENST00000286657 NM_014243.2 1106 Atc/Gtc 0 -ADAMTSL1 UCSF GRCh37 9 18795416 18795416 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 55 0 ENST00000380548.4:c.3700del p.Ser1234ProfsTer34 p.S1234Pfs*34 ENST00000380548 NM_001040272.5 1233 gaT/ga 0 -ASCC2 UCSF GRCh37 22 30198032 30198032 + stop_gained Nonsense_Mutation SNP C C A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 30 13 38 0 ENST00000307790.3:c.1519G>T p.Glu507Ter p.E507* ENST00000307790 NM_032204.4 507 Gag/Tag 0 -ATP2B4 UCSF GRCh37 1 203677182 203677182 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 150 122 224 0 ENST00000357681.5:c.1507C>T p.Leu503Phe p.L503F ENST00000357681 NM_001684.4 503 Ctc/Ttc 0 -ATRX UCSF GRCh37 X 76952141 76952148 + frameshift_variant Frame_Shift_Del DEL CAAAGGTT CAAAGGTT - NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 67 0 ENST00000373344.5:c.287_294del p.Lys96ArgfsTer2 p.K96Rfs*2 ENST00000373344 NM_000489.3 96 aAACCTTTG/a 0 -BCL11B UCSF GRCh37 14 99641792 99641792 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 40 12 34 0 ENST00000357195.3:c.1381G>A p.Asp461Asn p.D461N ENST00000357195 NM_138576.2 461 Gac/Aac 0 -BRD4 UCSF GRCh37 19 15354224 15354224 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 13 7 9 0 ENST00000263377.2:c.2656C>T p.Arg886Trp p.R886W ENST00000263377 NM_058243.2 886 Cgg/Tgg 0 -BRIP1 UCSF GRCh37 17 59876511 59876511 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 82 21 162 1 ENST00000259008.2:c.1290A>G p.Ile430Met p.I430M ENST00000259008 NM_032043.2 430 atA/atG 0 -CARD6 UCSF GRCh37 5 40852331 40852331 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 73 16 138 0 ENST00000254691.5:c.897A>G p.Arg299= p.R299= ENST00000254691 NM_032587.3 299 agA/agG 0 -CDHR3 UCSF GRCh37 7 105662691 105662691 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0014 P17_Rec1_D Untested WXS Illumina HiSeq 424 111 338 0 ENST00000317716.9:c.1873G>A p.Val625Ile p.V625I ENST00000317716 NM_152750.4 625 Gtc/Atc 0 -CHORDC1 UCSF GRCh37 11 89943710 89943710 + missense_variant Missense_Mutation SNP A A C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 46 11 76 0 ENST00000320585.6:c.486T>G p.Cys162Trp p.C162W ENST00000320585 NM_012124.2 162 tgT/tgG 0 -CRTAP UCSF GRCh37 3 33183903 33183903 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 37 17 128 0 ENST00000320954.6:c.1169A>G p.Tyr390Cys p.Y390C ENST00000320954 NM_006371.4 390 tAt/tGt 0 -DIDO1 UCSF GRCh37 20 61513252 61513252 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 102 98 187 0 ENST00000266070.4:c.4056C>T p.Asp1352= p.D1352= ENST00000266070 NM_033081.2 1352 gaC/gaT 0 -DNM1L UCSF GRCh37 12 32861097 32861097 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 39 9 78 0 ENST00000549701.1:c.308A>G p.Asp103Gly p.D103G ENST00000549701 103 gAt/gGt 0 -ECI2 UCSF GRCh37 6 4133876 4133876 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 133 29 201 0 ENST00000380118.3:c.120G>A p.Gln40= p.Q40= ENST00000380118 40 caG/caA 0 -FANCA UCSF GRCh37 16 89862354 89862354 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 77 28 118 0 ENST00000389301.3:c.966T>C p.His322= p.H322= ENST00000389301 NM_000135.2 322 caT/caC 0 -FAT1 UCSF GRCh37 4 187518024 187518024 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0022 P17_Rec1_D somatic WXS Sanger Illumina HiSeq 269 73 285 0 ENST00000441802.2:c.12670G>A p.Ala4224Thr p.A4224T ENST00000441802 NM_005245.3 4224 Gct/Act 0 -FAT1 UCSF GRCh37 4 187531037 187531037 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 248 71 246 0 ENST00000441802.2:c.9986A>G p.Asn3329Ser p.N3329S ENST00000441802 NM_005245.3 3329 aAc/aGc 0 -FGFBP1 UCSF GRCh37 4 15937919 15937919 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 163 38 192 0 ENST00000382333.1:c.337T>C p.Trp113Arg p.W113R ENST00000382333 NM_005130.4 113 Tgg/Cgg 0 -FLAD1 UCSF GRCh37 1 154962825 154962825 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 114 31 120 0 ENST00000292180.3:c.1375C>A p.Gln459Lys p.Q459K ENST00000292180 NM_025207.4 459 Cag/Aag 0 -GORAB UCSF GRCh37 1 170521320 170521320 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 113 46 121 0 ENST00000367763.3:c.902T>C p.Val301Ala p.V301A ENST00000367763 NM_152281.2 301 gTa/gCa 0 -HEPH UCSF GRCh37 X 65409555 65409555 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 9 90 100 0 ENST00000343002.2:c.838C>A p.Pro280Thr p.P280T ENST00000343002 280 Cct/Act 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 57 91 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KAT6B UCSF GRCh37 10 76790463 76790463 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 273 71 210 0 ENST00000287239.4:c.5881A>G p.Met1961Val p.M1961V ENST00000287239 NM_001256468.1 1961 Atg/Gtg 0 -KIAA1383 UCSF GRCh37 1 232941658 232941658 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 13 12 38 0 ENST00000418460.1:c.889T>G p.Ser297Ala p.S297A ENST00000418460 NM_019090.2 297 Tcc/Gcc 0 -MACC1 UCSF GRCh37 7 20199790 20199790 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 86 19 151 0 ENST00000332878.4:c.194A>G p.Asn65Ser p.N65S ENST00000332878 65 aAt/aGt 0 -MBD6 UCSF GRCh37 12 57921732 57921732 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 8 0 ENST00000355673.3:c.2345delG p.Gly782GlufsTer13 p.G782Efs*13 ENST00000355673 NM_052897.3 780 Ggg/gg 0 -MDH1B UCSF GRCh37 2 207621736 207621736 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D somatic WXS Sanger Illumina HiSeq 87 12 157 0 ENST00000374412.3:c.299C>T p.Thr100Met p.T100M ENST00000374412 NM_001039845.1 100 aCg/aTg 0 -MYO7B UCSF GRCh37 2 128331590 128331590 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 176 58 194 0 ENST00000409816.2:c.688G>A p.Ala230Thr p.A230T ENST00000409816 230 Gcg/Acg 0 -PIK3CA UCSF GRCh37 3 178952085 178952085 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_D somatic WXS Sanger Illumina HiSeq 73 28 156 0 ENST00000263967.3:c.3140A>G p.His1047Arg p.H1047R ENST00000263967 NM_006218.2 1047 cAt/cGt 0 -PLEKHG1 UCSF GRCh37 6 151151933 151151933 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_D somatic WXS Sanger Illumina HiSeq 132 40 163 0 ENST00000358517.2:c.1686C>T p.Phe562= p.F562= ENST00000358517 562 ttC/ttT 0 -PRKCH UCSF GRCh37 14 61788905 61788905 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 55 18 27 1 ENST00000332981.5:c.86T>C p.Leu29Pro p.L29P ENST00000332981 NM_006255.3 29 cTg/cCg 0 -RAD54B UCSF GRCh37 8 95390425 95390425 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 36 27 71 0 ENST00000336148.5:c.2498G>A p.Gly833Glu p.G833E ENST00000336148 NM_012415.3 833 gGa/gAa 0 -RGPD2 UCSF GRCh37 2 88125234 88125234 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 46 6 23 1 ENST00000398146.3:c.15A>G p.Lys5= p.K5= ENST00000398146 5 aaA/aaG 0 -SHISA9 UCSF GRCh37 16 13010641 13010641 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 114 34 175 0 ENST00000558583.1:c.783C>T p.Asn261= p.N261= ENST00000558583 NM_001145204.2 261 aaC/aaT 0 -SHKBP1 UCSF GRCh37 19 41096697 41096697 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 65 61 94 0 ENST00000291842.5:c.1830G>A p.Pro610= p.P610= ENST00000291842 NM_138392.3 610 ccG/ccA 0 -SLC22A25 UCSF GRCh37 11 62951251 62951251 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 235 94 193 0 ENST00000306494.6:c.869A>G p.Asn290Ser p.N290S ENST00000306494 NM_199352.3 290 aAc/aGc 0 -SORCS2 UCSF GRCh37 4 7691261 7691261 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 64 23 75 0 ENST00000507866.2:c.1537G>A p.Val513Ile p.V513I ENST00000507866 NM_020777.2 513 Gta/Ata 0 -SOX6 UCSF GRCh37 11 16068204 16068204 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_D somatic WXS Sanger Illumina HiSeq 84 24 100 0 ENST00000528429.1:c.1479G>A p.Gln493= p.Q493= ENST00000528429 NM_001145819.1 493 caG/caA 0 -SP6 UCSF GRCh37 17 45924768 45924768 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 36 10 22 0 ENST00000342234.2:c.1028C>T p.Ala343Val p.A343V ENST00000342234 NM_199262.2 343 gCg/gTg 0 -SPAG17 UCSF GRCh37 1 118584652 118584652 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 116 93 209 0 ENST00000336338.5:c.2828A>G p.Glu943Gly p.E943G ENST00000336338 NM_206996.2 943 gAg/gGg 0 -TLN2 UCSF GRCh37 15 63047743 63047743 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 60 15 58 0 ENST00000306829.6:c.4489G>A p.Ala1497Thr p.A1497T ENST00000306829 NM_015059.2 1497 Gcc/Acc 0 -TMEM40 UCSF GRCh37 3 12779654 12779654 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 14 7 47 0 ENST00000264728.8:c.405A>G p.Arg135= p.R135= ENST00000264728 135 agA/agG 0 -TMEM63B UCSF GRCh37 6 44122598 44122598 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 34 33 66 0 ENST00000259746.9:c.2477T>C p.Ile826Thr p.I826T ENST00000259746 826 aTa/aCa 0 -TMPRSS11B UCSF GRCh37 4 69095151 69095151 + missense_variant Missense_Mutation SNP A A C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 108 32 173 0 ENST00000332644.5:c.770T>G p.Ile257Ser p.I257S ENST00000332644 NM_182502.3 257 aTt/aGt 0 -TP53 UCSF GRCh37 17 7578550 7578550 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 5 47 42 0 ENST00000269305.4:c.380C>T p.Ser127Phe p.S127F ENST00000269305 NM_001126112.2 127 tCc/tTc 0 -TTN UCSF GRCh37 2 179641275 179641275 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 119 45 205 0 ENST00000591111.1:c.5316T>C p.Ser1772= p.S1772= ENST00000591111 1772 agT/agC 0 -UGT3A1 UCSF GRCh37 5 35965819 35965819 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 114 34 145 0 ENST00000274278.3:c.512G>T p.Gly171Val p.G171V ENST00000274278 NM_152404.3 171 gGc/gTc 0 -WFDC12 UCSF GRCh37 20 43752784 43752784 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 85 25 78 0 ENST00000372785.3:c.202T>C p.Phe68Leu p.F68L ENST00000372785 NM_080869.1 68 Ttc/Ctc 0 -AATK UCSF GRCh37 17 79095911 79095911 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 13 5 23 0 ENST00000326724.4:c.1825T>C p.Ser609Pro p.S609P ENST00000326724 NM_001080395.2 609 Tct/Cct 0 -ABCA5 UCSF GRCh37 17 67309286 67309286 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 106 62 179 0 ENST00000392676.3:c.254C>A p.Thr85Asn p.T85N ENST00000392676 85 aCt/aAt 0 -ABHD6 UCSF GRCh37 3 58255111 58255111 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 38 15 81 0 ENST00000295962.4:c.340T>C p.Ser114Pro p.S114P ENST00000295962 NM_020676.5 114 Tcc/Ccc 0 -ANKRD57 UCSF GRCh37 2 110372925 110372925 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 10 7 32 0 ENST00000356454.3:c.859C>G p.Leu287Val p.L287V ENST00000356454 NM_023016.3 287 Ctc/Gtc 0 -APOB UCSF GRCh37 2 21230912 21230912 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 143 74 265 0 ENST00000233242.1:c.8828A>G p.Glu2943Gly p.E2943G ENST00000233242 NM_000384.2 2943 gAa/gGa 0 -ATRX UCSF GRCh37 X 76918998 76918999 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P18_Pri_A somatic WXS Sanger Illumina HiSeq 60 0 ENST00000373344.5:c.3993dup p.Lys1332Ter p.K1332* ENST00000373344 NM_000489.3 1331 tct/tcTt 0 -BRAF UCSF GRCh37 7 140453136 140453136 + missense_variant Missense_Mutation SNP A A T snp132_rs113488022 P18_Pri_A somatic WXS Sanger Illumina HiSeq 143 35 190 0 ENST00000288602.6:c.1799T>A p.Val600Glu p.V600E ENST00000288602 NM_004333.4 600 gTg/gAg 0 -C1orf146 UCSF GRCh37 1 92710342 92710342 + synonymous_variant Silent SNP G G C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 74 63 131 0 ENST00000370375.3:c.336G>C p.Leu112= p.L112= ENST00000370375 NM_001012425.1 112 ctG/ctC 0 -C6orf204 UCSF GRCh37 6 118791763 118791763 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 135 62 179 0 ENST00000368491.3:c.1959G>C p.Lys653Asn p.K653N ENST00000368491 NM_001042475.2 653 aaG/aaC 0 -CACNA1A UCSF GRCh37 19 13563763 13563763 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 124 92 300 0 ENST00000360228.5:c.466G>C p.Gly156Arg p.G156R ENST00000360228 NM_001127222.1 156 Ggg/Cgg 0 -CCDC91 UCSF GRCh37 12 28459819 28459819 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 111 61 161 0 ENST00000381259.1:c.412A>G p.Ile138Val p.I138V ENST00000381259 NM_018318.3 138 Att/Gtt 0 -CCT8L2 UCSF GRCh37 22 17071975 17071975 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 142 67 253 0 ENST00000359963.3:c.1466C>T p.Ala489Val p.A489V ENST00000359963 NM_014406.4 489 gCc/gTc 0 -CDKAL1 UCSF GRCh37 6 21201505 21201505 + missense_variant,splice_region_variant Missense_Mutation SNP G G C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 98 39 165 0 ENST00000274695.4:c.1548G>C p.Lys516Asn p.K516N ENST00000274695 NM_017774.3 516 aaG/aaC 0 -CHRNA7 UCSF GRCh37 15 32393502 32393510 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site INS GAAGGATGA GAAGGATGA TTAAGGGTGG NOVEL P18_Pri_A Untested WXS Illumina HiSeq 6 0 ENST00000306901.3:c.196-4_200delinsTTAAGGGTGG p.X66_splice ENST00000306901 NM_000746.5 0 -DCHS2 UCSF GRCh37 4 155411228 155411228 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 16 8 35 0 ENST00000339452.1:c.1280C>T p.Ser427Phe p.S427F ENST00000339452 NM_001142552.1 427 tCt/tTt 0 -DLEC1 UCSF GRCh37 3 38141899 38141899 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 79 34 155 0 ENST00000308059.6:c.2847G>A p.Val949= p.V949= ENST00000308059 949 gtG/gtA 0 -DNAH9 UCSF GRCh37 17 11865433 11865433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 21 95 184 0 ENST00000262442.4:c.13093C>T p.Arg4365Cys p.R4365C ENST00000262442 NM_001372.3 4365 Cgc/Tgc 0 -DYTN UCSF GRCh37 2 207572123 207572123 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 78 63 178 0 ENST00000452335.2:c.199C>T p.Gln67Ter p.Q67* ENST00000452335 NM_001093730.1 67 Caa/Taa 0 -ECEL1 UCSF GRCh37 2 233348784 233348784 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 99 11 125 2 ENST00000304546.1:c.1334C>A p.Ala445Asp p.A445D ENST00000304546 NM_004826.2 445 gCc/gAc 0 -EGF UCSF GRCh37 4 110932410 110932410 + synonymous_variant Silent SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 83 37 148 0 ENST00000265171.5:c.3423C>T p.Gly1141= p.G1141= ENST00000265171 NM_001963.4 1141 ggC/ggT 0 -ETHE1 UCSF GRCh37 19 44011007 44011007 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 94 17 94 0 ENST00000292147.2:c.760G>T p.Ala254Ser p.A254S ENST00000292147 NM_014297.3 254 Gcc/Tcc 0 -ENTREP1 UCSF GRCh37 9 71986494 71986494 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 73 51 213 0 ENST00000257515.8:c.92A>G p.Gln31Arg p.Q31R ENST00000257515 NM_004816.3 31 cAg/cGg 0 -FAT1 UCSF GRCh37 4 187516856 187516856 + synonymous_variant Silent SNP C C A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 124 76 277 0 ENST00000441802.2:c.13125G>T p.Ser4375= p.S4375= ENST00000441802 NM_005245.3 4375 tcG/tcT 0 -FIGNL1 UCSF GRCh37 7 50513387 50513387 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 142 89 226 0 ENST00000356889.4:c.1599A>G p.Thr533= p.T533= ENST00000356889 NM_001287495.1 533 acA/acG 0 -FLNB UCSF GRCh37 3 58135716 58135716 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 126 60 247 0 ENST00000295956.4:c.6231C>G p.Asp2077Glu p.D2077E ENST00000295956 NM_001457.3 2077 gaC/gaG 0 -FMN1 UCSF GRCh37 15 33261055 33261055 + synonymous_variant Silent SNP T T G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 41 8 65 1 ENST00000559047.1:c.2847A>C p.Pro949= p.P949= ENST00000559047 NM_001277313.1 949 ccA/ccC 0 -GATA5 UCSF GRCh37 20 61048578 61048578 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 17 8 17 0 ENST00000252997.2:c.580G>A p.Ala194Thr p.A194T ENST00000252997 NM_080473.4 194 Gcc/Acc 0 -GMNC UCSF GRCh37 3 190578563 190578563 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 105 54 167 0 ENST00000442080.1:c.88A>T p.Ser30Cys p.S30C ENST00000442080 NM_001146686.2 30 Agt/Tgt 0 -GRM1 UCSF GRCh37 6 146755345 146755345 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 68 9 113 0 ENST00000282753.1:c.2998A>G p.Thr1000Ala p.T1000A ENST00000282753 NM_001278067.1 1000 Acc/Gcc 0 -HEATR4 UCSF GRCh37 14 73989203 73989203 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 79 17 123 0 ENST00000334988.2:c.654C>T p.Ile218= p.I218= ENST00000334988 NM_203309.2 218 atC/atT 0 -HOXC12 UCSF GRCh37 12 54350163 54350163 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 106 50 213 0 ENST00000243103.3:c.662A>G p.Tyr221Cys p.Y221C ENST00000243103 NM_173860.1 221 tAt/tGt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 67 51 155 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGSF10 UCSF GRCh37 3 151154586 151154586 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 104 56 197 0 ENST00000282466.3:c.7763G>T p.Gly2588Val p.G2588V ENST00000282466 NM_178822.4 2588 gGt/gTt 0 -INPPL1 UCSF GRCh37 11 71949087 71949087 + missense_variant,splice_region_variant Missense_Mutation SNP C C A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 14 7 21 0 ENST00000298229.2:c.3554C>A p.Ala1185Asp p.A1185D ENST00000298229 NM_001567.3 1185 gCt/gAt 0 -IRF2BPL UCSF GRCh37 14 77492740 77492740 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 35 10 58 0 ENST00000238647.3:c.1396C>A p.His466Asn p.H466N ENST00000238647 NM_024496.3 466 Cac/Aac 0 -MYOF UCSF GRCh37 10 95097607 95097607 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 102 41 232 0 ENST00000359263.4:c.4402G>A p.Gly1468Arg p.G1468R ENST00000359263 NM_013451.3 1468 Gga/Aga 0 -NPTN UCSF GRCh37 15 73884321 73884321 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 184 28 265 0 ENST00000345330.4:c.597C>A p.Ser199Arg p.S199R ENST00000345330 NM_012428.3 199 agC/agA 0 -NUP188 UCSF GRCh37 9 131755524 131755524 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 83 53 186 0 ENST00000372577.2:c.2689A>T p.Ile897Phe p.I897F ENST00000372577 NM_015354.2 897 Att/Ttt 0 -OR10G3 UCSF GRCh37 14 22038246 22038246 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 87 47 195 0 ENST00000303532.1:c.630T>C p.Ser210= p.S210= ENST00000303532 NM_001005465.1 210 agT/agC 0 -OR51T1 UCSF GRCh37 11 4903156 4903156 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 34 71 170 0 ENST00000322049.1:c.27G>A p.Ser9= p.S9= ENST00000322049 9 tcG/tcA 0 -OR5B3 UCSF GRCh37 11 58170636 58170636 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 145 73 217 1 ENST00000309403.2:c.247T>A p.Phe83Ile p.F83I ENST00000309403 NM_001005469.1 83 Ttc/Atc 0 -OR5D14 UCSF GRCh37 11 55563678 55563678 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 126 94 252 0 ENST00000335605.1:c.647T>C p.Ile216Thr p.I216T ENST00000335605 NM_001004735.1 216 aTc/aCc 0 -OR6C70 UCSF GRCh37 12 55863388 55863388 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 207 36 262 0 ENST00000327335.4:c.535A>G p.Ile179Val p.I179V ENST00000327335 NM_001005499.1 179 Att/Gtt 0 -PGR UCSF GRCh37 11 100933464 100933464 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 125 45 140 0 ENST00000325455.5:c.1926C>T p.Phe642= p.F642= ENST00000325455 NM_001202474.3 642 ttC/ttT 0 -PRPF40A UCSF GRCh37 2 153527822 153527822 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 146 107 242 0 ENST00000410080.1:c.1444G>A p.Glu482Lys p.E482K ENST00000410080 NM_017892.3 482 Gaa/Aaa 0 -RACGAP1 UCSF GRCh37 12 50387942 50387942 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 98 54 222 0 ENST00000312377.5:c.1311C>T p.Arg437= p.R437= ENST00000312377 437 cgC/cgT 0 -RAI14 UCSF GRCh37 5 34824590 34824590 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 69 34 110 0 ENST00000265109.3:c.2643T>C p.Asp881= p.D881= ENST00000265109 NM_015577.2 881 gaT/gaC 0 -RPL21 UCSF GRCh37 13 27830577 27830577 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 90 45 117 0 ENST00000272274.4:c.398C>T p.Ala133Val p.A133V ENST00000272274 133 gCt/gTt 0 -RYR1 UCSF GRCh37 19 38991267 38991267 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 62 14 84 0 ENST00000359596.3:c.7345G>A p.Glu2449Lys p.E2449K ENST00000359596 2449 Gag/Aag 0 -SIGLEC12 UCSF GRCh37 19 52004795 52004795 + frameshift_variant Frame_Shift_Ins INS G G CT NOVEL P18_Pri_A Untested WXS Illumina HiSeq 7 0 ENST00000291707.3:c.193delinsAG p.Ala66GlyfsTer50 p.A66Gfs*50 ENST00000291707 NM_053003.2 65 Cgg/AGgg 0 -SORT1 UCSF GRCh37 1 109890108 109890108 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 98 36 89 0 ENST00000256637.6:c.829T>A p.Cys277Ser p.C277S ENST00000256637 NM_002959.5 277 Tgc/Agc 0 -SPINK7 UCSF GRCh37 5 147692956 147692956 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 94 57 197 0 ENST00000274565.4:c.81A>G p.Pro27= p.P27= ENST00000274565 NM_032566.2 27 ccA/ccG 0 -SULT1A1 UCSF GRCh37 16 28617217 28617217 + synonymous_variant Silent SNP C C T snp132_rs11569762 P18_Pri_A Untested WXS Illumina HiSeq 67 13 101 0 ENST00000314752.7:c.813G>A p.Ala271= p.A271= ENST00000314752 NM_177529.2 271 gcG/gcA 0 -TAAR8 UCSF GRCh37 6 132874197 132874197 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 111 72 267 0 ENST00000275200.1:c.366G>T p.Leu122Phe p.L122F ENST00000275200 NM_053278.1 122 ttG/ttT 0 -TJP3 UCSF GRCh37 19 3738640 3738640 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 32 21 79 0 ENST00000541714.2:c.1372G>C p.Val458Leu p.V458L ENST00000541714 NM_001267560.1 458 Gtg/Ctg 0 -TMEM201 UCSF GRCh37 1 9658524 9658524 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 44 21 97 0 ENST00000340381.6:c.447G>T p.Glu149Asp p.E149D ENST00000340381 NM_001130924.2 149 gaG/gaT 0 -TMPRSS15 UCSF GRCh37 21 19732166 19732166 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 110 76 154 0 ENST00000284885.3:c.788T>A p.Leu263His p.L263H ENST00000284885 NM_002772.2 263 cTt/cAt 0 -TP53 UCSF GRCh37 17 7577572 7577572 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_A somatic WXS Sanger Illumina HiSeq 19 50 78 0 ENST00000269305.4:c.709A>G p.Met237Val p.M237V ENST00000269305 NM_001126112.2 237 Atg/Gtg 0 -TRIM52 UCSF GRCh37 5 180687399 180687399 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 101 52 224 0 ENST00000327767.4:c.416T>G p.Leu139Trp p.L139W ENST00000327767 NM_032765.2 139 tTg/tGg 0 -TRIM52 UCSF GRCh37 5 180687407 180687407 + synonymous_variant Silent SNP T T G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 105 48 231 0 ENST00000327767.4:c.408A>C p.Leu136= p.L136= ENST00000327767 NM_032765.2 136 ctA/ctC 0 -TRIM59 UCSF GRCh37 3 160156368 160156369 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 6 0 ENST00000309784.4:c.604dup p.Ser202LysfsTer8 p.S202Kfs*8 ENST00000309784 NM_173084.2 201 -/A 0 -USP18 UCSF GRCh37 22 18650764 18650764 + synonymous_variant Silent SNP T T A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 114 78 258 0 ENST00000215794.7:c.588T>A p.Leu196= p.L196= ENST00000215794 NM_017414.3 196 ctT/ctA 0 -WDR1 UCSF GRCh37 4 10089922 10089922 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 10 6 27 0 ENST00000382452.2:c.712T>G p.Tyr238Asp p.Y238D ENST00000382452 NM_017491.3 238 Tac/Gac 0 -ZNF280D UCSF GRCh37 15 56968955 56968955 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 135 75 209 0 ENST00000267807.7:c.1323T>G p.His441Gln p.H441Q ENST00000267807 NM_017661.2 441 caT/caG 0 -ZNF280D UCSF GRCh37 15 56969839 56969839 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 86 49 114 0 ENST00000267807.7:c.1196C>G p.Thr399Arg p.T399R ENST00000267807 NM_017661.2 399 aCa/aGa 0 -ZNF518B UCSF GRCh37 4 10445063 10445063 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 149 29 233 0 ENST00000326756.3:c.2890A>T p.Asn964Tyr p.N964Y ENST00000326756 NM_053042.2 964 Aat/Tat 0 -ABCA5 UCSF GRCh37 17 67309286 67309286 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 80 31 179 0 ENST00000392676.3:c.254C>A p.Thr85Asn p.T85N ENST00000392676 85 aCt/aAt 0 -ADAM19 UCSF GRCh37 5 156934130 156934130 + synonymous_variant Silent SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 52 9 87 1 ENST00000517905.1:c.924C>A p.Gly308= p.G308= ENST00000517905 308 ggC/ggA 0 -ANGPT4 UCSF GRCh37 20 858877 858877 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 37 16 62 0 ENST00000381922.3:c.1147C>A p.Gln383Lys p.Q383K ENST00000381922 NM_015985.2 383 Caa/Aaa 0 -ATRX UCSF GRCh37 X 76918998 76918999 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 19 0 ENST00000373344.5:c.3993dup p.Lys1332Ter p.K1332* ENST00000373344 NM_000489.3 1331 tct/tcTt 0 -C14orf49 UCSF GRCh37 14 95932381 95932381 + synonymous_variant Silent SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 106 41 119 0 ENST00000334258.5:c.514C>A p.Arg172= p.R172= ENST00000334258 NM_152592.3 172 Cgg/Agg 0 -C1orf146 UCSF GRCh37 1 92710342 92710342 + synonymous_variant Silent SNP G G C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 88 24 131 0 ENST00000370375.3:c.336G>C p.Leu112= p.L112= ENST00000370375 NM_001012425.1 112 ctG/ctC 0 -C4BPA UCSF GRCh37 1 207317200 207317200 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 89 26 161 0 ENST00000367070.3:c.1482G>T p.Leu494Phe p.L494F ENST00000367070 NM_000715.3 494 ttG/ttT 0 -CCDC91 UCSF GRCh37 12 28459819 28459819 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 106 44 161 0 ENST00000381259.1:c.412A>G p.Ile138Val p.I138V ENST00000381259 NM_018318.3 138 Att/Gtt 0 -CELA2A UCSF GRCh37 1 15789929 15789929 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 143 47 211 0 ENST00000359621.4:c.405C>A p.Asp135Glu p.D135E ENST00000359621 NM_033440.2 135 gaC/gaA 0 -CILP2 UCSF GRCh37 19 19655073 19655073 + synonymous_variant Silent SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 149 18 142 0 ENST00000291495.5:c.1719C>T p.Gly573= p.G573= ENST00000291495 NM_153221.2 573 ggC/ggT 0 -CRNN UCSF GRCh37 1 152382931 152382931 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 286 54 276 0 ENST00000271835.3:c.627G>C p.Glu209Asp p.E209D ENST00000271835 NM_016190.2 209 gaG/gaC 0 -DCHS2 UCSF GRCh37 4 155411228 155411228 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 24 6 35 0 ENST00000339452.1:c.1280C>T p.Ser427Phe p.S427F ENST00000339452 NM_001142552.1 427 tCt/tTt 0 -DNAH9 UCSF GRCh37 17 11865433 11865433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 62 87 184 0 ENST00000262442.4:c.13093C>T p.Arg4365Cys p.R4365C ENST00000262442 NM_001372.3 4365 Cgc/Tgc 0 -DYTN UCSF GRCh37 2 207572123 207572123 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 63 30 178 0 ENST00000452335.2:c.199C>T p.Gln67Ter p.Q67* ENST00000452335 NM_001093730.1 67 Caa/Taa 0 -EFR3A UCSF GRCh37 8 132980635 132980635 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 214 38 283 0 ENST00000254624.5:c.949G>T p.Val317Phe p.V317F ENST00000254624 NM_015137.4 317 Gtt/Ttt 0 -FAM81B UCSF GRCh37 5 94731872 94731872 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 146 26 197 0 ENST00000283357.5:c.286G>T p.Val96Phe p.V96F ENST00000283357 NM_152548.2 96 Gtt/Ttt 0 -FAT1 UCSF GRCh37 4 187516856 187516856 + synonymous_variant Silent SNP C C A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 222 74 277 0 ENST00000441802.2:c.13125G>T p.Ser4375= p.S4375= ENST00000441802 NM_005245.3 4375 tcG/tcT 0 -FIGNL1 UCSF GRCh37 7 50513387 50513387 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 158 72 226 0 ENST00000356889.4:c.1599A>G p.Thr533= p.T533= ENST00000356889 NM_001287495.1 533 acA/acG 0 -FLNB UCSF GRCh37 3 58135716 58135716 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 202 59 247 0 ENST00000295956.4:c.6231C>G p.Asp2077Glu p.D2077E ENST00000295956 NM_001457.3 2077 gaC/gaG 0 -GPR158 UCSF GRCh37 10 25701295 25701295 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 304 42 301 0 ENST00000376351.3:c.1228G>A p.Val410Ile p.V410I ENST00000376351 NM_020752.2 410 Gtc/Atc 0 -GPRIN2 UCSF GRCh37 10 46999601 46999601 + missense_variant Missense_Mutation SNP G G A snp132_rs9422022 P18_Pri_B Untested WXS Illumina HiSeq 62 19 73 1 ENST00000374314.4:c.721G>A p.Val241Met p.V241M ENST00000374314 241 Gtg/Atg 0 -HOXC12 UCSF GRCh37 12 54350163 54350163 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 117 38 213 0 ENST00000243103.3:c.662A>G p.Tyr221Cys p.Y221C ENST00000243103 NM_173860.1 221 tAt/tGt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 79 33 155 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KIAA0513 UCSF GRCh37 16 85111032 85111032 + splice_region_variant,synonymous_variant Splice_Region SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 31 7 66 0 ENST00000258180.3:c.576A>G p.Gly192= p.G192= ENST00000258180 NM_014732.2 192 ggA/ggG 0 -KRTAP4-7 UCSF GRCh37 17 39240829 39240829 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 57 10 64 0 ENST00000391417.4:c.371T>C p.Val124Ala p.V124A ENST00000391417 NM_033061.3 124 gTc/gCc 0 -LAMC2 UCSF GRCh37 1 183212454 183212454 + synonymous_variant Silent SNP G G C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 119 17 161 0 ENST00000264144.4:c.3501G>C p.Leu1167= p.L1167= ENST00000264144 NM_005562.2 1167 ctG/ctC 0 -LRRIQ3 UCSF GRCh37 1 74507485 74507485 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 111 45 208 0 ENST00000354431.4:c.1130T>C p.Phe377Ser p.F377S ENST00000354431 NM_001105659.1 377 tTt/tCt 0 -LRRK1 UCSF GRCh37 15 101566207 101566207 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 52 87 118 0 ENST00000388948.3:c.2270C>T p.Thr757Met p.T757M ENST00000388948 NM_024652.3 757 aCg/aTg 0 -LTBP3 UCSF GRCh37 11 65321611 65321611 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 32 12 39 0 ENST00000301873.5:c.572T>C p.Ile191Thr p.I191T ENST00000301873 NM_001130144.2 191 aTc/aCc 0 -MAD1L1 UCSF GRCh37 7 2020096 2020096 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.015,snp132_rs113127342 P18_Pri_B Untested WXS Illumina HiSeq 15 3 35 1 ENST00000265854.7:c.1497C>T p.Asp499= p.D499= ENST00000265854 499 gaC/gaT 0 -MAGEA8 UCSF GRCh37 X 149013393 149013393 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 78 39 126 0 ENST00000286482.1:c.347T>C p.Val116Ala p.V116A ENST00000286482 NM_005364.4 116 gTg/gCg 0 -MET UCSF GRCh37 7 116339260 116339260 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 103 58 182 0 ENST00000397752.3:c.122A>G p.Tyr41Cys p.Y41C ENST00000397752 NM_000245.2 41 tAt/tGt 0 -NTMT2 UCSF GRCh37 1 170135792 170135792 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 180 95 238 0 ENST00000439373.2:c.480G>A p.Gln160= p.Q160= ENST00000439373 NM_001136107.1 160 caG/caA 0 -MTUS1 UCSF GRCh37 8 17611815 17611815 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 230 117 292 0 ENST00000262102.6:c.1502G>A p.Ser501Asn p.S501N ENST00000262102 NM_001001924.2 501 aGt/aAt 0 -MYOF UCSF GRCh37 10 95097607 95097607 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 109 60 232 0 ENST00000359263.4:c.4402G>A p.Gly1468Arg p.G1468R ENST00000359263 NM_013451.3 1468 Gga/Aga 0 -NTN1 UCSF GRCh37 17 9066252 9066252 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 33 6 42 0 ENST00000173229.2:c.1141C>G p.His381Asp p.H381D ENST00000173229 NM_004822.2 381 Cat/Gat 0 -OR10G3 UCSF GRCh37 14 22038246 22038246 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 159 71 195 0 ENST00000303532.1:c.630T>C p.Ser210= p.S210= ENST00000303532 NM_001005465.1 210 agT/agC 0 -OR5D14 UCSF GRCh37 11 55563678 55563678 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 229 104 252 0 ENST00000335605.1:c.647T>C p.Ile216Thr p.I216T ENST00000335605 NM_001004735.1 216 aTc/aCc 0 -PCLO UCSF GRCh37 7 82581498 82581499 + inframe_insertion In_Frame_Ins INS - - TCT NOVEL P18_Pri_B Untested WXS Illumina HiSeq 6 0 ENST00000333891.9:c.8770_8771insAGA p.Ile2923_Ile2924insLys p.I2923_I2924insK ENST00000333891 NM_033026.5 2924 ata/aAGAta 0 -PCNT UCSF GRCh37 21 47831434 47831434 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 52 8 66 1 ENST00000359568.5:c.5447C>A p.Ala1816Asp p.A1816D ENST00000359568 NM_006031.5 1816 gCc/gAc 0 -PGR UCSF GRCh37 11 100933464 100933464 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 126 49 140 0 ENST00000325455.5:c.1926C>T p.Phe642= p.F642= ENST00000325455 NM_001202474.3 642 ttC/ttT 0 -PKHD1L1 UCSF GRCh37 8 110457191 110457191 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 276 104 305 0 ENST00000378402.5:c.5093T>C p.Phe1698Ser p.F1698S ENST00000378402 NM_177531.4 1698 tTc/tCc 0 -PPP1R11 UCSF GRCh37 6 30037034 30037034 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 63 9 76 0 ENST00000376772.3:c.332C>T p.Pro111Leu p.P111L ENST00000376772 NM_021959.2 111 cCc/cTc 0 -PRR12 UCSF GRCh37 19 50100979 50100979 + synonymous_variant Silent SNP C C G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 31 7 43 0 ENST00000418929.2:c.3387C>G p.Arg1129= p.R1129= ENST00000418929 NM_020719.1 1129 cgC/cgG 0 -QRFPR UCSF GRCh37 4 122257975 122257975 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 221 29 259 0 ENST00000394427.2:c.548T>C p.Val183Ala p.V183A ENST00000394427 NM_198179.2 183 gTg/gCg 0 -RAB11FIP1 UCSF GRCh37 8 37756731 37756731 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 6 8 20 0 ENST00000330843.4:c.229C>T p.Leu77= p.L77= ENST00000330843 NM_001002814.2 77 Ctg/Ttg 0 -RACGAP1 UCSF GRCh37 12 50387942 50387942 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 116 22 222 0 ENST00000312377.5:c.1311C>T p.Arg437= p.R437= ENST00000312377 437 cgC/cgT 0 -RPL21 UCSF GRCh37 13 27830577 27830577 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 53 16 117 0 ENST00000272274.4:c.398C>T p.Ala133Val p.A133V ENST00000272274 133 gCt/gTt 0 -SON UCSF GRCh37 21 34923851 34923851 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 278 41 324 0 ENST00000356577.4:c.2314G>T p.Asp772Tyr p.D772Y ENST00000356577 NM_138927.2 772 Gac/Tac 0 -SPINK7 UCSF GRCh37 5 147692956 147692956 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 123 45 197 0 ENST00000274565.4:c.81A>G p.Pro27= p.P27= ENST00000274565 NM_032566.2 27 ccA/ccG 0 -SRCAP UCSF GRCh37 16 30720835 30720835 + missense_variant,splice_region_variant Missense_Mutation SNP T T G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 76 18 111 2 ENST00000262518.4:c.635T>G p.Val212Gly p.V212G ENST00000262518 NM_006662.2 212 gTg/gGg 0 -TBL1X UCSF GRCh37 X 9652214 9652214 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 22 8 61 0 ENST00000217964.7:c.343A>G p.Ile115Val p.I115V ENST00000217964 NM_005647.3 115 Atc/Gtc 0 -TFAP2C UCSF GRCh37 20 55206427 55206427 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 37 9 59 0 ENST00000201031.2:c.215C>T p.Ser72Leu p.S72L ENST00000201031 NM_003222.3 72 tCg/tTg 0 -TJP3 UCSF GRCh37 19 3738640 3738640 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 57 26 79 0 ENST00000541714.2:c.1372G>C p.Val458Leu p.V458L ENST00000541714 NM_001267560.1 458 Gtg/Ctg 0 -TMPRSS15 UCSF GRCh37 21 19732166 19732166 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 79 32 154 0 ENST00000284885.3:c.788T>A p.Leu263His p.L263H ENST00000284885 NM_002772.2 263 cTt/cAt 0 -TP53 UCSF GRCh37 17 7577572 7577572 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 18 39 78 0 ENST00000269305.4:c.709A>G p.Met237Val p.M237V ENST00000269305 NM_001126112.2 237 Atg/Gtg 0 -TRIM52 UCSF GRCh37 5 180687399 180687399 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 193 91 224 0 ENST00000327767.4:c.416T>G p.Leu139Trp p.L139W ENST00000327767 NM_032765.2 139 tTg/tGg 0 -TRIM52 UCSF GRCh37 5 180687407 180687407 + synonymous_variant Silent SNP T T G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 198 89 231 0 ENST00000327767.4:c.408A>C p.Leu136= p.L136= ENST00000327767 NM_032765.2 136 ctA/ctC 0 -TTF2 UCSF GRCh37 1 117626650 117626650 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 137 47 185 0 ENST00000369466.4:c.1914C>G p.Asp638Glu p.D638E ENST00000369466 NM_003594.3 638 gaC/gaG 0 -USP18 UCSF GRCh37 22 18650764 18650764 + synonymous_variant Silent SNP T T A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 182 67 258 0 ENST00000215794.7:c.588T>A p.Leu196= p.L196= ENST00000215794 NM_017414.3 196 ctT/ctA 0 -WWC2 UCSF GRCh37 4 184129248 184129248 + synonymous_variant Silent SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 115 42 211 0 ENST00000403733.3:c.384C>T p.Ala128= p.A128= ENST00000403733 NM_024949.5 128 gcC/gcT 0 -ZNF280D UCSF GRCh37 15 56968955 56968955 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 161 26 209 0 ENST00000267807.7:c.1323T>G p.His441Gln p.H441Q ENST00000267807 NM_017661.2 441 caT/caG 0 -ZNF280D UCSF GRCh37 15 56969839 56969839 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 60 14 114 0 ENST00000267807.7:c.1196C>G p.Thr399Arg p.T399R ENST00000267807 NM_017661.2 399 aCa/aGa 0 -AATK UCSF GRCh37 17 79095911 79095911 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 9 12 23 0 ENST00000326724.4:c.1825T>C p.Ser609Pro p.S609P ENST00000326724 NM_001080395.2 609 Tct/Cct 0 -ABCA5 UCSF GRCh37 17 67309286 67309286 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 88 45 179 0 ENST00000392676.3:c.254C>A p.Thr85Asn p.T85N ENST00000392676 85 aCt/aAt 0 -ABHD6 UCSF GRCh37 3 58255111 58255111 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 54 14 81 0 ENST00000295962.4:c.340T>C p.Ser114Pro p.S114P ENST00000295962 NM_020676.5 114 Tcc/Ccc 0 -ALOX15 UCSF GRCh37 17 4542725 4542725 + missense_variant,splice_region_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.060,snp132_rs41509647 P18_Pri_C Untested WXS Illumina HiSeq 53 6 79 2 ENST00000293761.3:c.337G>A p.Gly113Ser p.G113S ENST00000293761 NM_001140.3 113 Ggc/Agc 0 -ANKRD57 UCSF GRCh37 2 110372925 110372925 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 17 22 32 0 ENST00000356454.3:c.859C>G p.Leu287Val p.L287V ENST00000356454 NM_023016.3 287 Ctc/Gtc 0 -APOB UCSF GRCh37 2 21230912 21230912 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 185 122 265 0 ENST00000233242.1:c.8828A>G p.Glu2943Gly p.E2943G ENST00000233242 NM_000384.2 2943 gAa/gGa 0 -APOBR UCSF GRCh37 16 28507445 28507445 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 11 5 32 0 ENST00000431282.1:c.1056G>C p.Glu352Asp p.E352D ENST00000431282 352 gaG/gaC 0 -ATRX UCSF GRCh37 X 76918998 76918999 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 58 0 ENST00000373344.5:c.3993dup p.Lys1332Ter p.K1332* ENST00000373344 NM_000489.3 1331 tct/tcTt 0 -C1orf146 UCSF GRCh37 1 92710342 92710342 + synonymous_variant Silent SNP G G C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 87 42 131 0 ENST00000370375.3:c.336G>C p.Leu112= p.L112= ENST00000370375 NM_001012425.1 112 ctG/ctC 0 -C6orf204 UCSF GRCh37 6 118791763 118791763 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 95 37 179 0 ENST00000368491.3:c.1959G>C p.Lys653Asn p.K653N ENST00000368491 NM_001042475.2 653 aaG/aaC 0 -CACNA1A UCSF GRCh37 19 13563763 13563763 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 290 171 300 0 ENST00000360228.5:c.466G>C p.Gly156Arg p.G156R ENST00000360228 NM_001127222.1 156 Ggg/Cgg 0 -CCDC91 UCSF GRCh37 12 28459819 28459819 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 89 54 161 0 ENST00000381259.1:c.412A>G p.Ile138Val p.I138V ENST00000381259 NM_018318.3 138 Att/Gtt 0 -CCT8L2 UCSF GRCh37 22 17071975 17071975 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 180 102 253 0 ENST00000359963.3:c.1466C>T p.Ala489Val p.A489V ENST00000359963 NM_014406.4 489 gCc/gTc 0 -CDKAL1 UCSF GRCh37 6 21201505 21201505 + missense_variant,splice_region_variant Missense_Mutation SNP G G C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 146 25 165 0 ENST00000274695.4:c.1548G>C p.Lys516Asn p.K516N ENST00000274695 NM_017774.3 516 aaG/aaC 0 -CHRM2 UCSF GRCh37 7 136700565 136700565 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 169 34 184 0 ENST00000320658.5:c.953A>G p.Glu318Gly p.E318G ENST00000320658 NM_001006632.1 318 gAg/gGg 0 -DCHS2 UCSF GRCh37 4 155411228 155411228 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 21 17 35 0 ENST00000339452.1:c.1280C>T p.Ser427Phe p.S427F ENST00000339452 NM_001142552.1 427 tCt/tTt 0 -DLEC1 UCSF GRCh37 3 38141899 38141899 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 124 22 155 0 ENST00000308059.6:c.2847G>A p.Val949= p.V949= ENST00000308059 949 gtG/gtA 0 -DNAH9 UCSF GRCh37 17 11865433 11865433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 30 125 184 0 ENST00000262442.4:c.13093C>T p.Arg4365Cys p.R4365C ENST00000262442 NM_001372.3 4365 Cgc/Tgc 0 -DYTN UCSF GRCh37 2 207572123 207572123 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 83 55 178 0 ENST00000452335.2:c.199C>T p.Gln67Ter p.Q67* ENST00000452335 NM_001093730.1 67 Caa/Taa 0 -EGF UCSF GRCh37 4 110932410 110932410 + synonymous_variant Silent SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 98 62 148 0 ENST00000265171.5:c.3423C>T p.Gly1141= p.G1141= ENST00000265171 NM_001963.4 1141 ggC/ggT 0 -F2 UCSF GRCh37 11 46751000 46751000 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 108 13 132 0 ENST00000311907.5:c.1543G>A p.Val515Ile p.V515I ENST00000311907 NM_000506.3 515 Gtt/Att 0 -FAM129A UCSF GRCh37 1 184764507 184764529 + frameshift_variant Frame_Shift_Ins INS CGGAGAGGCTGGGCTGCCTACCT CGGAGAGGCTGGGCTGCCTACCT GGGGGGGGCTGGGGTGCCCACCCC NOVEL P18_Pri_C Untested WXS Illumina HiSeq 8 0 ENST00000367511.3:c.2369_2391delinsGGGGTGGGCACCCCAGCCCCCCCC p.Glu790GlyfsTer37 p.E790Gfs*37 ENST00000367511 NM_052966.3 790 gAGGTAGGCAGCCCAGCCTCTCCG/gGGGGTGGGCACCCCAGCCCCCCCC 0 -ENTREP1 UCSF GRCh37 9 71986494 71986494 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 145 62 213 0 ENST00000257515.8:c.92A>G p.Gln31Arg p.Q31R ENST00000257515 NM_004816.3 31 cAg/cGg 0 -FAM47C UCSF GRCh37 X 37028925 37028925 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 79 14 100 0 ENST00000358047.3:c.2442G>A p.Pro814= p.P814= ENST00000358047 NM_001013736.2 814 ccG/ccA 0 -FAT1 UCSF GRCh37 4 187516856 187516856 + synonymous_variant Silent SNP C C A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 214 163 277 0 ENST00000441802.2:c.13125G>T p.Ser4375= p.S4375= ENST00000441802 NM_005245.3 4375 tcG/tcT 0 -FIGNL1 UCSF GRCh37 7 50513387 50513387 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 147 110 226 0 ENST00000356889.4:c.1599A>G p.Thr533= p.T533= ENST00000356889 NM_001287495.1 533 acA/acG 0 -FLNB UCSF GRCh37 3 58135716 58135716 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 188 104 247 0 ENST00000295956.4:c.6231C>G p.Asp2077Glu p.D2077E ENST00000295956 NM_001457.3 2077 gaC/gaG 0 -GATA5 UCSF GRCh37 20 61048578 61048578 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 10 7 17 0 ENST00000252997.2:c.580G>A p.Ala194Thr p.A194T ENST00000252997 NM_080473.4 194 Gcc/Acc 0 -GMNC UCSF GRCh37 3 190578563 190578563 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 112 80 167 0 ENST00000442080.1:c.88A>T p.Ser30Cys p.S30C ENST00000442080 NM_001146686.2 30 Agt/Tgt 0 -GP2 UCSF GRCh37 16 20337743 20337743 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 34 8 80 0 ENST00000381362.4:c.11T>G p.Leu4Arg p.L4R ENST00000381362 NM_001007240.1 4 cTt/cGt 0 -GPRIN2 UCSF GRCh37 10 46999601 46999601 + missense_variant Missense_Mutation SNP G G A snp132_rs9422022 P18_Pri_C Untested WXS Illumina HiSeq 86 20 73 1 ENST00000374314.4:c.721G>A p.Val241Met p.V241M ENST00000374314 241 Gtg/Atg 0 -HOXC12 UCSF GRCh37 12 54350163 54350163 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 116 86 213 0 ENST00000243103.3:c.662A>G p.Tyr221Cys p.Y221C ENST00000243103 NM_173860.1 221 tAt/tGt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 58 55 155 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IFT74 UCSF GRCh37 9 26980584 26980584 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P18_Pri_C Untested WXS Illumina HiSeq 10 0 ENST00000380062.5:c.275del p.Leu92Ter p.L92* ENST00000380062 NM_025103.2 91 aTt/at 0 -IGSF10 UCSF GRCh37 3 151154586 151154586 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 180 23 197 0 ENST00000282466.3:c.7763G>T p.Gly2588Val p.G2588V ENST00000282466 NM_178822.4 2588 gGt/gTt 0 -KRAS UCSF GRCh37 12 25398220 25398220 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 32 4 45 0 ENST00000256078.4:c.99T>G p.Asp33Glu p.D33E ENST00000256078 NM_033360.2 33 gaT/gaG 0 -MKI67 UCSF GRCh37 10 129905112 129905113 + frameshift_variant Frame_Shift_Del DEL TG TG - 1000g2010nov_all P18_Pri_C Untested WXS Illumina HiSeq 7 0 ENST00000368654.3:c.4991_4992delCA p.Thr1664ArgfsTer7 p.T1664Rfs*7 ENST00000368654 NM_002417.4 1664 aCA/a 0 -MYOF UCSF GRCh37 10 95097607 95097607 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 142 93 232 0 ENST00000359263.4:c.4402G>A p.Gly1468Arg p.G1468R ENST00000359263 NM_013451.3 1468 Gga/Aga 0 -NOTCH1 UCSF GRCh37 9 139412283 139412285 + inframe_deletion In_Frame_Del DEL GTT GTT - NOVEL P18_Pri_C Untested WXS Illumina HiSeq 7 0 ENST00000277541.6:c.1360_1362delAAC p.Asn454del p.N454del ENST00000277541 NM_017617.3 454 AAC/- 0 -NUP188 UCSF GRCh37 9 131755524 131755524 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 108 57 186 0 ENST00000372577.2:c.2689A>T p.Ile897Phe p.I897F ENST00000372577 NM_015354.2 897 Att/Ttt 0 -OR10G3 UCSF GRCh37 14 22038246 22038246 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 153 94 195 0 ENST00000303532.1:c.630T>C p.Ser210= p.S210= ENST00000303532 NM_001005465.1 210 agT/agC 0 -OR51T1 UCSF GRCh37 11 4903156 4903156 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 29 64 170 0 ENST00000322049.1:c.27G>A p.Ser9= p.S9= ENST00000322049 9 tcG/tcA 0 -OR5B3 UCSF GRCh37 11 58170636 58170636 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 243 32 217 1 ENST00000309403.2:c.247T>A p.Phe83Ile p.F83I ENST00000309403 NM_001005469.1 83 Ttc/Atc 0 -OR5D14 UCSF GRCh37 11 55563678 55563678 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 219 160 252 0 ENST00000335605.1:c.647T>C p.Ile216Thr p.I216T ENST00000335605 NM_001004735.1 216 aTc/aCc 0 -OR6C70 UCSF GRCh37 12 55863388 55863388 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 255 30 262 0 ENST00000327335.4:c.535A>G p.Ile179Val p.I179V ENST00000327335 NM_001005499.1 179 Att/Gtt 0 -PAGE4 UCSF GRCh37 X 49595090 49595090 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 76 23 133 0 ENST00000218068.6:c.59A>T p.Asp20Val p.D20V ENST00000218068 NM_007003.2 20 gAt/gTt 0 -PCLO UCSF GRCh37 7 82581498 82581499 + inframe_insertion In_Frame_Ins INS - - TCT NOVEL P18_Pri_C Untested WXS Illumina HiSeq 10 0 ENST00000333891.9:c.8770_8771insAGA p.Ile2923_Ile2924insLys p.I2923_I2924insK ENST00000333891 NM_033026.5 2924 ata/aAGAta 0 -PGR UCSF GRCh37 11 100933464 100933464 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 174 66 140 0 ENST00000325455.5:c.1926C>T p.Phe642= p.F642= ENST00000325455 NM_001202474.3 642 ttC/ttT 0 -PRPF40A UCSF GRCh37 2 153527822 153527822 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 99 87 242 0 ENST00000410080.1:c.1444G>A p.Glu482Lys p.E482K ENST00000410080 NM_017892.3 482 Gaa/Aaa 0 -RACGAP1 UCSF GRCh37 12 50387942 50387942 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 119 76 222 0 ENST00000312377.5:c.1311C>T p.Arg437= p.R437= ENST00000312377 437 cgC/cgT 0 -RAF1 UCSF GRCh37 3 12645699 12645699 + missense_variant Missense_Mutation SNP G G A snp132_rs80338796 P18_Pri_C Untested WXS Illumina HiSeq 82 18 152 0 ENST00000251849.4:c.770C>T p.Ser257Leu p.S257L ENST00000251849 NM_002880.3 257 tCg/tTg 0 -RAI14 UCSF GRCh37 5 34824590 34824590 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 24 22 110 0 ENST00000265109.3:c.2643T>C p.Asp881= p.D881= ENST00000265109 NM_015577.2 881 gaT/gaC 0 -RASAL3 UCSF GRCh37 19 15567379 15567379 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 99 12 106 0 ENST00000343625.7:c.1510T>C p.Leu504= p.L504= ENST00000343625 NM_022904.1 504 Ttg/Ctg 0 -RPL21 UCSF GRCh37 13 27830577 27830577 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 53 29 117 0 ENST00000272274.4:c.398C>T p.Ala133Val p.A133V ENST00000272274 133 gCt/gTt 0 -RYR1 UCSF GRCh37 19 38991267 38991267 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 81 11 84 0 ENST00000359596.3:c.7345G>A p.Glu2449Lys p.E2449K ENST00000359596 2449 Gag/Aag 0 -SNAP91 UCSF GRCh37 6 84315432 84315432 + synonymous_variant Silent SNP T T G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 33 5 54 0 ENST00000369694.2:c.1113A>C p.Pro371= p.P371= ENST00000369694 NM_001242792.1 371 ccA/ccC 0 -SORT1 UCSF GRCh37 1 109890108 109890108 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 78 26 89 0 ENST00000256637.6:c.829T>A p.Cys277Ser p.C277S ENST00000256637 NM_002959.5 277 Tgc/Agc 0 -SPINK7 UCSF GRCh37 5 147692956 147692956 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 97 72 197 0 ENST00000274565.4:c.81A>G p.Pro27= p.P27= ENST00000274565 NM_032566.2 27 ccA/ccG 0 -TAAR8 UCSF GRCh37 6 132874197 132874197 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 337 179 267 0 ENST00000275200.1:c.366G>T p.Leu122Phe p.L122F ENST00000275200 NM_053278.1 122 ttG/ttT 0 -TJP3 UCSF GRCh37 19 3738640 3738640 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 67 43 79 0 ENST00000541714.2:c.1372G>C p.Val458Leu p.V458L ENST00000541714 NM_001267560.1 458 Gtg/Ctg 0 -TLR7 UCSF GRCh37 X 12905935 12905935 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 69 11 131 0 ENST00000380659.3:c.2308A>T p.Asn770Tyr p.N770Y ENST00000380659 NM_016562.3 770 Aat/Tat 0 -TMEM201 UCSF GRCh37 1 9658524 9658524 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 45 26 97 0 ENST00000340381.6:c.447G>T p.Glu149Asp p.E149D ENST00000340381 NM_001130924.2 149 gaG/gaT 0 -TMLHE UCSF GRCh37 X 154743884 154743884 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 94 14 128 1 ENST00000334398.3:c.401T>G p.Val134Gly p.V134G ENST00000334398 NM_018196.3 134 gTg/gGg 0 -TMPRSS15 UCSF GRCh37 21 19732166 19732166 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 89 52 154 0 ENST00000284885.3:c.788T>A p.Leu263His p.L263H ENST00000284885 NM_002772.2 263 cTt/cAt 0 -TP53 UCSF GRCh37 17 7577572 7577572 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 9 66 78 0 ENST00000269305.4:c.709A>G p.Met237Val p.M237V ENST00000269305 NM_001126112.2 237 Atg/Gtg 0 -TRIM52 UCSF GRCh37 5 180687399 180687399 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 185 161 224 0 ENST00000327767.4:c.416T>G p.Leu139Trp p.L139W ENST00000327767 NM_032765.2 139 tTg/tGg 0 -TRIM52 UCSF GRCh37 5 180687407 180687407 + synonymous_variant Silent SNP T T G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 187 166 231 0 ENST00000327767.4:c.408A>C p.Leu136= p.L136= ENST00000327767 NM_032765.2 136 ctA/ctC 0 -TUBA3D UCSF GRCh37 2 132238306 132238306 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 193 29 160 2 ENST00000321253.6:c.1040G>T p.Cys347Phe p.C347F ENST00000321253 NM_080386.3 347 tGc/tTc 0 -USP18 UCSF GRCh37 22 18650764 18650764 + synonymous_variant Silent SNP T T A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 164 110 258 0 ENST00000215794.7:c.588T>A p.Leu196= p.L196= ENST00000215794 NM_017414.3 196 ctT/ctA 0 -WDR1 UCSF GRCh37 4 10089922 10089922 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 17 4 27 0 ENST00000382452.2:c.712T>G p.Tyr238Asp p.Y238D ENST00000382452 NM_017491.3 238 Tac/Gac 0 -ZNF280D UCSF GRCh37 15 56968955 56968955 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 161 89 209 0 ENST00000267807.7:c.1323T>G p.His441Gln p.H441Q ENST00000267807 NM_017661.2 441 caT/caG 0 -ZNF280D UCSF GRCh37 15 56969839 56969839 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 72 41 114 0 ENST00000267807.7:c.1196C>G p.Thr399Arg p.T399R ENST00000267807 NM_017661.2 399 aCa/aGa 0 -AATK UCSF GRCh37 17 79095911 79095911 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 18 5 23 0 ENST00000326724.4:c.1825T>C p.Ser609Pro p.S609P ENST00000326724 NM_001080395.2 609 Tct/Cct 0 -ABCA5 UCSF GRCh37 17 67309286 67309286 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 91 45 179 0 ENST00000392676.3:c.254C>A p.Thr85Asn p.T85N ENST00000392676 85 aCt/aAt 0 -ABHD6 UCSF GRCh37 3 58255111 58255111 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 45 18 81 0 ENST00000295962.4:c.340T>C p.Ser114Pro p.S114P ENST00000295962 NM_020676.5 114 Tcc/Ccc 0 -ANKRD57 UCSF GRCh37 2 110372925 110372925 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 30 17 32 0 ENST00000356454.3:c.859C>G p.Leu287Val p.L287V ENST00000356454 NM_023016.3 287 Ctc/Gtc 0 -APOB UCSF GRCh37 2 21230912 21230912 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 226 123 265 0 ENST00000233242.1:c.8828A>G p.Glu2943Gly p.E2943G ENST00000233242 NM_000384.2 2943 gAa/gGa 0 -ATRX UCSF GRCh37 X 76918998 76918999 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 48 0 ENST00000373344.5:c.3993dup p.Lys1332Ter p.K1332* ENST00000373344 NM_000489.3 1331 tct/tcTt 0 -BCAP31 UCSF GRCh37 X 152986398 152986398 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 89 10 93 1 ENST00000345046.6:c.122T>G p.Val41Gly p.V41G ENST00000345046 NM_001256447.1 41 gTg/gGg 0 -BRAF UCSF GRCh37 7 140453136 140453136 + missense_variant Missense_Mutation SNP A A T snp132_rs113488022 P18_Pri_D somatic WXS Sanger Illumina HiSeq 159 22 190 0 ENST00000288602.6:c.1799T>A p.Val600Glu p.V600E ENST00000288602 NM_004333.4 600 gTg/gAg 0 -C1orf146 UCSF GRCh37 1 92710342 92710342 + synonymous_variant Silent SNP G G C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 68 39 131 0 ENST00000370375.3:c.336G>C p.Leu112= p.L112= ENST00000370375 NM_001012425.1 112 ctG/ctC 0 -C6orf204 UCSF GRCh37 6 118791763 118791763 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 134 53 179 0 ENST00000368491.3:c.1959G>C p.Lys653Asn p.K653N ENST00000368491 NM_001042475.2 653 aaG/aaC 0 -CACNA1A UCSF GRCh37 19 13563763 13563763 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 378 193 300 0 ENST00000360228.5:c.466G>C p.Gly156Arg p.G156R ENST00000360228 NM_001127222.1 156 Ggg/Cgg 0 -CCDC91 UCSF GRCh37 12 28459819 28459819 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 92 50 161 0 ENST00000381259.1:c.412A>G p.Ile138Val p.I138V ENST00000381259 NM_018318.3 138 Att/Gtt 0 -CCT8L2 UCSF GRCh37 22 17071975 17071975 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 228 117 253 0 ENST00000359963.3:c.1466C>T p.Ala489Val p.A489V ENST00000359963 NM_014406.4 489 gCc/gTc 0 -CDKAL1 UCSF GRCh37 6 21201505 21201505 + missense_variant,splice_region_variant Missense_Mutation SNP G G C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 122 35 165 0 ENST00000274695.4:c.1548G>C p.Lys516Asn p.K516N ENST00000274695 NM_017774.3 516 aaG/aaC 0 -DCHS2 UCSF GRCh37 4 155411228 155411228 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 27 11 35 0 ENST00000339452.1:c.1280C>T p.Ser427Phe p.S427F ENST00000339452 NM_001142552.1 427 tCt/tTt 0 -DLEC1 UCSF GRCh37 3 38141899 38141899 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 102 25 155 0 ENST00000308059.6:c.2847G>A p.Val949= p.V949= ENST00000308059 949 gtG/gtA 0 -DNAH9 UCSF GRCh37 17 11865433 11865433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 57 111 184 0 ENST00000262442.4:c.13093C>T p.Arg4365Cys p.R4365C ENST00000262442 NM_001372.3 4365 Cgc/Tgc 0 -DYTN UCSF GRCh37 2 207572123 207572123 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 79 51 178 0 ENST00000452335.2:c.199C>T p.Gln67Ter p.Q67* ENST00000452335 NM_001093730.1 67 Caa/Taa 0 -EGF UCSF GRCh37 4 110932410 110932410 + synonymous_variant Silent SNP C C T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 99 28 148 0 ENST00000265171.5:c.3423C>T p.Gly1141= p.G1141= ENST00000265171 NM_001963.4 1141 ggC/ggT 0 -ENTREP1 UCSF GRCh37 9 71986494 71986494 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 166 52 213 0 ENST00000257515.8:c.92A>G p.Gln31Arg p.Q31R ENST00000257515 NM_004816.3 31 cAg/cGg 0 -FAT1 UCSF GRCh37 4 187516856 187516856 + synonymous_variant Silent SNP C C A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 292 130 277 0 ENST00000441802.2:c.13125G>T p.Ser4375= p.S4375= ENST00000441802 NM_005245.3 4375 tcG/tcT 0 -FIGNL1 UCSF GRCh37 7 50513387 50513387 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 192 93 226 0 ENST00000356889.4:c.1599A>G p.Thr533= p.T533= ENST00000356889 NM_001287495.1 533 acA/acG 0 -FLNB UCSF GRCh37 3 58135716 58135716 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 238 96 247 0 ENST00000295956.4:c.6231C>G p.Asp2077Glu p.D2077E ENST00000295956 NM_001457.3 2077 gaC/gaG 0 -GMNC UCSF GRCh37 3 190578563 190578563 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 157 67 167 0 ENST00000442080.1:c.88A>T p.Ser30Cys p.S30C ENST00000442080 NM_001146686.2 30 Agt/Tgt 0 -GPRIN2 UCSF GRCh37 10 46999601 46999601 + missense_variant Missense_Mutation SNP G G A snp132_rs9422022 P18_Pri_D Untested WXS Illumina HiSeq 89 11 73 1 ENST00000374314.4:c.721G>A p.Val241Met p.V241M ENST00000374314 241 Gtg/Atg 0 -HOXC12 UCSF GRCh37 12 54350163 54350163 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 160 71 213 0 ENST00000243103.3:c.662A>G p.Tyr221Cys p.Y221C ENST00000243103 NM_173860.1 221 tAt/tGt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 83 37 155 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGSF10 UCSF GRCh37 3 151154586 151154586 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 141 46 197 0 ENST00000282466.3:c.7763G>T p.Gly2588Val p.G2588V ENST00000282466 NM_178822.4 2588 gGt/gTt 0 -JUNB UCSF GRCh37 19 12903427 12903427 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 14 5 14 0 ENST00000302754.4:c.842C>G p.Ala281Gly p.A281G ENST00000302754 NM_002229.2 281 gCg/gGg 0 -MED8 UCSF GRCh37 1 43850143 43850144 + 3_prime_UTR_variant 3'UTR INS - - T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 6 0 ENST00000372457.4:c.*570dup *190* ENST00000372457 NM_201542.4 0 -MKI67 UCSF GRCh37 10 129905112 129905113 + frameshift_variant Frame_Shift_Del DEL TG TG - 1000g2010nov_all P18_Pri_D Untested WXS Illumina HiSeq 6 0 ENST00000368654.3:c.4991_4992delCA p.Thr1664ArgfsTer7 p.T1664Rfs*7 ENST00000368654 NM_002417.4 1664 aCA/a 0 -MN1 UCSF GRCh37 22 28194166 28194166 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 38 7 40 0 ENST00000302326.4:c.2366C>G p.Pro789Arg p.P789R ENST00000302326 NM_002430.2 789 cCt/cGt 0 -MYOF UCSF GRCh37 10 95097607 95097607 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 145 72 232 0 ENST00000359263.4:c.4402G>A p.Gly1468Arg p.G1468R ENST00000359263 NM_013451.3 1468 Gga/Aga 0 -NUP188 UCSF GRCh37 9 131755524 131755524 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 125 65 186 0 ENST00000372577.2:c.2689A>T p.Ile897Phe p.I897F ENST00000372577 NM_015354.2 897 Att/Ttt 0 -OR10G3 UCSF GRCh37 14 22038246 22038246 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 188 105 195 0 ENST00000303532.1:c.630T>C p.Ser210= p.S210= ENST00000303532 NM_001005465.1 210 agT/agC 0 -OR51T1 UCSF GRCh37 11 4903156 4903156 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 67 73 170 0 ENST00000322049.1:c.27G>A p.Ser9= p.S9= ENST00000322049 9 tcG/tcA 0 -OR5B3 UCSF GRCh37 11 58170636 58170636 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 232 89 217 1 ENST00000309403.2:c.247T>A p.Phe83Ile p.F83I ENST00000309403 NM_001005469.1 83 Ttc/Atc 0 -OR5D14 UCSF GRCh37 11 55563678 55563678 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 309 154 252 0 ENST00000335605.1:c.647T>C p.Ile216Thr p.I216T ENST00000335605 NM_001004735.1 216 aTc/aCc 0 -OR6C70 UCSF GRCh37 12 55863388 55863388 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 299 40 262 0 ENST00000327335.4:c.535A>G p.Ile179Val p.I179V ENST00000327335 NM_001005499.1 179 Att/Gtt 0 -OTOP1 UCSF GRCh37 4 4228243 4228243 + missense_variant Missense_Mutation SNP G G T 1000g2010nov_all_0.081 P18_Pri_D Untested WXS Illumina HiSeq 9 6 15 0 ENST00000296358.4:c.349C>A p.His117Asn p.H117N ENST00000296358 NM_177998.1 117 Cac/Aac 0 -PCDP1 UCSF GRCh37 2 120366070 120366085 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site INS CTCCCCAGGCAGGTGC CTCCCCAGGCAGGTGC TCTCCCCAGGCAGGGGG NOVEL P18_Pri_D Untested WXS Illumina HiSeq 6 0 ENST00000413369.3:c.1134-8_1141delinsTCTCCCCAGGCAGGGGG p.X378_splice ENST00000413369 NM_001271049.1 0 -PCLO UCSF GRCh37 7 82581498 82581499 + inframe_insertion In_Frame_Ins INS - - TCT NOVEL P18_Pri_D Untested WXS Illumina HiSeq 15 0 ENST00000333891.9:c.8770_8771insAGA p.Ile2923_Ile2924insLys p.I2923_I2924insK ENST00000333891 NM_033026.5 2924 ata/aAGAta 0 -PGR UCSF GRCh37 11 100933464 100933464 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 191 70 140 0 ENST00000325455.5:c.1926C>T p.Phe642= p.F642= ENST00000325455 NM_001202474.3 642 ttC/ttT 0 -PRPF40A UCSF GRCh37 2 153527822 153527822 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 155 53 242 0 ENST00000410080.1:c.1444G>A p.Glu482Lys p.E482K ENST00000410080 NM_017892.3 482 Gaa/Aaa 0 -RACGAP1 UCSF GRCh37 12 50387942 50387942 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 117 56 222 0 ENST00000312377.5:c.1311C>T p.Arg437= p.R437= ENST00000312377 437 cgC/cgT 0 -RAI14 UCSF GRCh37 5 34824590 34824590 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 50 24 110 0 ENST00000265109.3:c.2643T>C p.Asp881= p.D881= ENST00000265109 NM_015577.2 881 gaT/gaC 0 -RPL21 UCSF GRCh37 13 27830577 27830577 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 60 44 117 0 ENST00000272274.4:c.398C>T p.Ala133Val p.A133V ENST00000272274 133 gCt/gTt 0 -RYR1 UCSF GRCh37 19 38991267 38991267 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 78 28 84 0 ENST00000359596.3:c.7345G>A p.Glu2449Lys p.E2449K ENST00000359596 2449 Gag/Aag 0 -SORT1 UCSF GRCh37 1 109890108 109890108 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 103 27 89 0 ENST00000256637.6:c.829T>A p.Cys277Ser p.C277S ENST00000256637 NM_002959.5 277 Tgc/Agc 0 -SPINK7 UCSF GRCh37 5 147692956 147692956 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 127 50 197 0 ENST00000274565.4:c.81A>G p.Pro27= p.P27= ENST00000274565 NM_032566.2 27 ccA/ccG 0 -TAAR8 UCSF GRCh37 6 132874197 132874197 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 486 179 267 0 ENST00000275200.1:c.366G>T p.Leu122Phe p.L122F ENST00000275200 NM_053278.1 122 ttG/ttT 0 -TJP3 UCSF GRCh37 19 3738640 3738640 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 90 41 79 0 ENST00000541714.2:c.1372G>C p.Val458Leu p.V458L ENST00000541714 NM_001267560.1 458 Gtg/Ctg 0 -TMEM201 UCSF GRCh37 1 9658524 9658524 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 88 30 97 0 ENST00000340381.6:c.447G>T p.Glu149Asp p.E149D ENST00000340381 NM_001130924.2 149 gaG/gaT 0 -TMPRSS15 UCSF GRCh37 21 19732166 19732166 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 100 50 154 0 ENST00000284885.3:c.788T>A p.Leu263His p.L263H ENST00000284885 NM_002772.2 263 cTt/cAt 0 -TP53 UCSF GRCh37 17 7577572 7577572 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 17 65 78 0 ENST00000269305.4:c.709A>G p.Met237Val p.M237V ENST00000269305 NM_001126112.2 237 Atg/Gtg 0 -TRIM52 UCSF GRCh37 5 180687399 180687399 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 258 84 224 0 ENST00000327767.4:c.416T>G p.Leu139Trp p.L139W ENST00000327767 NM_032765.2 139 tTg/tGg 0 -TRIM52 UCSF GRCh37 5 180687407 180687407 + synonymous_variant Silent SNP T T G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 257 83 231 0 ENST00000327767.4:c.408A>C p.Leu136= p.L136= ENST00000327767 NM_032765.2 136 ctA/ctC 0 -UGT1A3 UCSF GRCh37 2 234638283 234638284 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 6 0 ENST00000482026.1:c.518dup p.Leu173PhefsTer7 p.L173Ffs*7 ENST00000482026 171 ttt/tTtt 0 -USP18 UCSF GRCh37 22 18650764 18650764 + synonymous_variant Silent SNP T T A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 226 101 258 0 ENST00000215794.7:c.588T>A p.Leu196= p.L196= ENST00000215794 NM_017414.3 196 ctT/ctA 0 -WDR1 UCSF GRCh37 4 10089922 10089922 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 16 3 27 0 ENST00000382452.2:c.712T>G p.Tyr238Asp p.Y238D ENST00000382452 NM_017491.3 238 Tac/Gac 0 -ZNF280D UCSF GRCh37 15 56968955 56968955 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 185 78 209 0 ENST00000267807.7:c.1323T>G p.His441Gln p.H441Q ENST00000267807 NM_017661.2 441 caT/caG 0 -ZNF280D UCSF GRCh37 15 56969839 56969839 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 55 34 114 0 ENST00000267807.7:c.1196C>G p.Thr399Arg p.T399R ENST00000267807 NM_017661.2 399 aCa/aGa 0 -ZNF518B UCSF GRCh37 4 10445063 10445063 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 226 35 233 0 ENST00000326756.3:c.2890A>T p.Asn964Tyr p.N964Y ENST00000326756 NM_053042.2 964 Aat/Tat 0 -A1BG UCSF GRCh37 19 58862971 58862971 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 25 60 0 ENST00000263100.3:c.696C>T p.Cys232= p.C232= ENST00000263100 NM_130786.3 232 tgC/tgT 0 -A2M UCSF GRCh37 12 9229956 9229956 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 24 16 51 0 ENST00000318602.7:c.3337C>T p.Pro1113Ser p.P1113S ENST00000318602 NM_000014.4 1113 Cct/Tct 0 -AADACL4 UCSF GRCh37 1 12721866 12721866 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 81 158 0 ENST00000376221.1:c.449+1G>A p.X150_splice ENST00000376221 NM_001013630.1 0 -AARS UCSF GRCh37 16 70287616 70287616 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 35 35 75 0 ENST00000261772.8:c.2607+1G>A p.X869_splice ENST00000261772 NM_001605.2 0 -AARS2 UCSF GRCh37 6 44271120 44271120 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 36 44 65 0 ENST00000244571.4:c.2048C>T p.Thr683Ile p.T683I ENST00000244571 NM_020745.3 683 aCt/aTt 0 -AARSD1 UCSF GRCh37 17 41107981 41107981 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 150 88 192 0 ENST00000421990.2:c.1194G>A p.Lys398= p.K398= ENST00000421990 NM_001136042.2 398 aaG/aaA 0 -AASDH UCSF GRCh37 4 57204898 57204898 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 64 135 0 ENST00000205214.6:c.2967G>A p.Glu989= p.E989= ENST00000205214 NM_181806.2 989 gaG/gaA 0 -AATK UCSF GRCh37 17 79094371 79094371 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 7 17 0 ENST00000326724.4:c.3365G>A p.Gly1122Glu p.G1122E ENST00000326724 NM_001080395.2 1122 gGa/gAa 0 -ABCA1 UCSF GRCh37 9 107547874 107547874 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 81 171 0 ENST00000374736.3:c.6448C>T p.Pro2150Ser p.P2150S ENST00000374736 NM_005502.3 2150 Ccg/Tcg 0 -ABCA1 UCSF GRCh37 9 107549232 107549232 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 117 75 177 0 ENST00000374736.3:c.6230C>T p.Pro2077Leu p.P2077L ENST00000374736 NM_005502.3 2077 cCc/cTc 0 -ABCA12 UCSF GRCh37 2 215917211 215917211 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 49 105 0 ENST00000272895.7:c.507G>A p.Lys169= p.K169= ENST00000272895 NM_173076.2 169 aaG/aaA 0 -ABCA13 UCSF GRCh37 7 48391970 48391970 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P18_Rec Untested WXS Illumina HiSeq 64 0 ENST00000435803.1:c.10577del p.Pro3526HisfsTer5 p.P3526Hfs*5 ENST00000435803 NM_152701.3 3525 gCc/gc 0 -ABCA2 UCSF GRCh37 9 139910874 139910874 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 54 124 0 ENST00000341511.6:c.2973C>T p.Val991= p.V991= ENST00000341511 NM_212533.2 991 gtC/gtT 0 -ABCA2 UCSF GRCh37 9 139902948 139902948 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 7 10 0 ENST00000341511.6:c.7195G>A p.Glu2399Lys p.E2399K ENST00000341511 NM_212533.2 2399 Gag/Aag 0 -ABCA3 UCSF GRCh37 16 2374452 2374452 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 12 35 0 ENST00000301732.5:c.400G>A p.Val134Ile p.V134I ENST00000301732 NM_001089.2 134 Gtc/Atc 0 -ABCA3 UCSF GRCh37 16 2336836 2336836 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 177 59 117 0 ENST00000301732.5:c.3137C>T p.Ala1046Val p.A1046V ENST00000301732 NM_001089.2 1046 gCg/gTg 0 -ABCA3 UCSF GRCh37 16 2334326 2334326 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 140 46 75 0 ENST00000301732.5:c.3816G>A p.Arg1272= p.R1272= ENST00000301732 NM_001089.2 1272 agG/agA 0 -ABCA4 UCSF GRCh37 1 94544147 94544147 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 64 140 0 ENST00000370225.3:c.1355G>A p.Arg452Lys p.R452K ENST00000370225 NM_000350.2 452 aGa/aAa 0 -ABCA5 UCSF GRCh37 17 67309286 67309286 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 63 179 0 ENST00000392676.3:c.254C>A p.Thr85Asn p.T85N ENST00000392676 85 aCt/aAt 0 -ABCA6 UCSF GRCh37 17 67103919 67103919 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 67 125 0 ENST00000284425.2:c.2307G>A p.Gln769= p.Q769= ENST00000284425 NM_080284.2 769 caG/caA 0 -ABCB1 UCSF GRCh37 7 87175303 87175303 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 139 94 217 0 ENST00000265724.3:c.1763G>A p.Arg588His p.R588H ENST00000265724 NM_000927.4 588 cGt/cAt 0 -ABCB9 UCSF GRCh37 12 123419954 123419954 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 40 73 0 ENST00000280560.8:c.1768G>A p.Val590Met p.V590M ENST00000280560 NM_019625.3 590 Gtg/Atg 0 -ABCC10 UCSF GRCh37 6 43400588 43400588 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 45 94 0 ENST00000372530.4:c.870G>A p.Leu290= p.L290= ENST00000372530 NM_001198934.1 290 ctG/ctA 0 -ABL1 UCSF GRCh37 9 133760187 133760187 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 23 21 46 0 ENST00000318560.5:c.2510G>A p.Gly837Glu p.G837E ENST00000318560 NM_005157.4 837 gGa/gAa 0 -ABLIM3 UCSF GRCh37 5 148620338 148620338 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 65 124 0 ENST00000309868.7:c.1303+1G>A p.X435_splice ENST00000309868 NM_014945.2 0 -ABTB2 UCSF GRCh37 11 34184228 34184228 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 41 28 53 0 ENST00000435224.2:c.2113G>A p.Gly705Arg p.G705R ENST00000435224 NM_145804.2 705 Ggg/Agg 0 -ACAA2 UCSF GRCh37 18 47311620 47311620 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 67 131 0 ENST00000285093.10:c.1056C>T p.His352= p.H352= ENST00000285093 NM_006111.2 352 caC/caT 0 -ACACA UCSF GRCh37 17 35545383 35545383 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 53 116 0 ENST00000353139.5:c.4610G>A p.Gly1537Glu p.G1537E ENST00000353139 NM_198834.1 1537 gGa/gAa 0 -ACACA UCSF GRCh37 17 35603853 35603853 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 164 88 210 0 ENST00000353139.5:c.2349G>A p.Glu783= p.E783= ENST00000353139 NM_198834.1 783 gaG/gaA 0 -ACAD10 UCSF GRCh37 12 112186993 112186993 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 166 111 268 0 ENST00000313698.4:c.2661C>T p.Val887= p.V887= ENST00000313698 NM_025247.5 887 gtC/gtT 0 -ACAD9 UCSF GRCh37 3 128612436 128612436 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 42 103 0 ENST00000308982.7:c.283G>A p.Asp95Asn p.D95N ENST00000308982 NM_014049.4 95 Gat/Aat 0 -ACADVL UCSF GRCh37 17 7128190 7128190 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 39 84 0 ENST00000356839.5:c.1814C>T p.Thr605Ile p.T605I ENST00000356839 NM_001270448.1 605 aCc/aTc 0 -ACAN UCSF GRCh37 15 89398830 89398830 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 122 65 231 0 ENST00000439576.2:c.3014C>T p.Ala1005Val p.A1005V ENST00000439576 NM_013227.3 1005 gCc/gTc 0 -ACAN UCSF GRCh37 15 89400170 89400170 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 237 147 365 0 ENST00000439576.2:c.4354C>T p.Pro1452Ser p.P1452S ENST00000439576 NM_013227.3 1452 Cct/Tct 0 -ACAN UCSF GRCh37 15 89417131 89417131 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 34 39 92 0 ENST00000439576.2:c.7392C>T p.Asp2464= p.D2464= ENST00000439576 NM_013227.3 2464 gaC/gaT 0 -ACAN UCSF GRCh37 15 89415235 89415235 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 98 182 0 ENST00000439576.2:c.7107C>T p.Asn2369= p.N2369= ENST00000439576 NM_013227.3 2369 aaC/aaT 0 -ACHE UCSF GRCh37 7 100490427 100490427 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 8 20 0 ENST00000241069.5:c.1081G>A p.Val361Met p.V361M ENST00000241069 NM_000665.3 361 Gtg/Atg 0 -ACO1 UCSF GRCh37 9 32427404 32427404 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 25 85 207 0 ENST00000309951.6:c.1454G>A p.Ser485Asn p.S485N ENST00000309951 NM_002197.2 485 aGc/aAc 0 -ACOT12 UCSF GRCh37 5 80626249 80626249 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 65 187 0 ENST00000307624.3:c.1632G>A p.Glu544= p.E544= ENST00000307624 NM_130767.2 544 gaG/gaA 0 -ACOT4 UCSF GRCh37 14 74061941 74061941 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 111 70 201 0 ENST00000326303.4:c.849G>A p.Lys283= p.K283= ENST00000326303 NM_152331.3 283 aaG/aaA 0 -ADGRF2P UCSF GRCh37 3 58520818 58520818 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 143 111 259 0 ENST00000302819.5:c.16C>T p.His6Tyr p.H6Y ENST00000302819 NM_003500.3 6 Cac/Tac 0 -ADGRF2P UCSF GRCh37 3 58510152 58510152 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 45 114 0 ENST00000302819.5:c.1526+1G>A p.X509_splice ENST00000302819 NM_003500.3 0 -ACOXL UCSF GRCh37 2 111551752 111551752 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 38 63 0 ENST00000389811.4:c.345+1G>A p.X115_splice ENST00000389811 0 -ACP5 UCSF GRCh37 19 11688112 11688112 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 21 44 0 ENST00000218758.5:c.21G>A p.Leu7= p.L7= ENST00000218758 NM_001111035.1 7 ctG/ctA 0 -ACP6 UCSF GRCh37 1 147122026 147122026 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 47 41 76 0 ENST00000369238.6:c.897G>A p.Met299Ile p.M299I ENST00000369238 NM_016361.4 299 atG/atA 0 -ACP6 UCSF GRCh37 1 147131086 147131086 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 99 221 0 ENST00000369238.6:c.548G>A p.Cys183Tyr p.C183Y ENST00000369238 NM_016361.4 183 tGt/tAt 0 -ACP6 UCSF GRCh37 1 147131860 147131860 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 47 108 0 ENST00000369238.6:c.250C>T p.Pro84Ser p.P84S ENST00000369238 NM_016361.4 84 Cca/Tca 0 -ACP3 UCSF GRCh37 3 132068815 132068815 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 72 150 0 ENST00000336375.5:c.833C>T p.Pro278Leu p.P278L ENST00000336375 NM_001099.4 278 cCa/cTa 0 -ACSBG2 UCSF GRCh37 19 6151774 6151774 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 14 22 0 ENST00000586696.1:c.354G>A p.Trp118Ter p.W118* ENST00000586696 118 tgG/tgA 0 -ACTG1 UCSF GRCh37 17 79477785 79477785 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 126 75 177 0 ENST00000331925.2:c.1059G>A p.Gln353= p.Q353= ENST00000331925 NM_001614.3 353 caG/caA 0 -ACTN1 UCSF GRCh37 14 69343938 69343938 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 78 47 133 0 ENST00000193403.6:c.2381G>A p.Arg794His p.R794H ENST00000193403 NM_001102.3 794 cGc/cAc 0 -ACTN1 UCSF GRCh37 14 69347572 69347572 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 86 196 0 ENST00000193403.6:c.2088G>A p.Gln696= p.Q696= ENST00000193403 NM_001102.3 696 caG/caA 0 -ACTR5 UCSF GRCh37 20 37396227 37396227 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 95 187 0 ENST00000243903.4:c.1554G>A p.Arg518= p.R518= ENST00000243903 NM_024855.3 518 cgG/cgA 0 -ADAM10 UCSF GRCh37 15 58938330 58938330 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P18_Rec Untested WXS Illumina HiSeq 8 0 ENST00000260408.3:c.659del p.Asn220IlefsTer23 p.N220Ifs*23 ENST00000260408 NM_001110.2 220 aAt/at 0 -ADAM15 UCSF GRCh37 1 155028467 155028467 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 53 38 103 0 ENST00000356955.2:c.735G>A p.Leu245= p.L245= ENST00000356955 NM_207197.2 245 ttG/ttA 0 -ADAM2 UCSF GRCh37 8 39624683 39624683 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 163 111 225 0 ENST00000265708.4:c.1300G>A p.Glu434Lys p.E434K ENST00000265708 NM_001464.4 434 Gaa/Aaa 0 -ADAM8 UCSF GRCh37 10 135085974 135085974 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 36 17 48 0 ENST00000445355.3:c.821G>A p.Trp274Ter p.W274* ENST00000445355 NM_001109.4 274 tGg/tAg 0 -ADAMTS13 UCSF GRCh37 9 136320640 136320640 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 30 81 0 ENST00000371929.3:c.3483G>A p.Trp1161Ter p.W1161* ENST00000371929 NM_139025.4 1161 tgG/tgA 0 -ADAMTS13 UCSF GRCh37 9 136303014 136303014 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 36 95 0 ENST00000371929.3:c.1581C>T p.Cys527= p.C527= ENST00000371929 NM_139025.4 527 tgC/tgT 0 -ADAMTS13 UCSF GRCh37 9 136313814 136313814 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 24 62 0 ENST00000371929.3:c.2826G>A p.Arg942= p.R942= ENST00000371929 NM_139025.4 942 cgG/cgA 0 -ADAMTS15 UCSF GRCh37 11 130319744 130319744 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 81 50 121 0 ENST00000299164.2:c.876C>T p.Phe292= p.F292= ENST00000299164 NM_139055.2 292 ttC/ttT 0 -ADAMTS4 UCSF GRCh37 1 161166346 161166346 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 58 34 117 0 ENST00000367996.5:c.957+1G>A p.X319_splice ENST00000367996 NM_005099.4 0 -ADAMTS9 UCSF GRCh37 3 64607929 64607929 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 63 127 0 ENST00000498707.1:c.2631G>A p.Gln877= p.Q877= ENST00000498707 NM_182920.1 877 caG/caA 0 -ADAMTSL4 UCSF GRCh37 1 150531823 150531823 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 56 115 0 ENST00000271643.4:c.2824G>A p.Gly942Arg p.G942R ENST00000271643 NM_019032.4 942 Ggg/Agg 0 -ADCK5 UCSF GRCh37 8 145618060 145618060 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 11 6 12 0 ENST00000308860.6:c.1590C>T p.Arg530= p.R530= ENST00000308860 NM_174922.4 530 cgC/cgT 0 -ADCY10 UCSF GRCh37 1 167847697 167847697 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Rec Untested WXS Illumina HiSeq 110 92 176 0 ENST00000367851.4:c.1393C>G p.Arg465Gly p.R465G ENST00000367851 NM_018417.4 465 Cgt/Ggt 0 -ADCY9 UCSF GRCh37 16 4015884 4015884 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 185 72 200 0 ENST00000294016.3:c.3954C>T p.Ala1318= p.A1318= ENST00000294016 NM_001116.3 1318 gcC/gcT 0 -ADCY9 UCSF GRCh37 16 4163830 4163830 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 265 99 244 0 ENST00000294016.3:c.1614C>T p.Tyr538= p.Y538= ENST00000294016 NM_001116.3 538 taC/taT 0 -ADH5 UCSF GRCh37 4 100006287 100006287 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 171 130 246 0 ENST00000296412.8:c.93G>A p.Lys31= p.K31= ENST00000296412 NM_000671.3 31 aaG/aaA 0 -ADORA3 UCSF GRCh37 1 112042978 112042978 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 203 148 309 0 ENST00000241356.4:c.551C>T p.Thr184Ile p.T184I ENST00000241356 NM_000677.3 184 aCc/aTc 0 -ADRB3 UCSF GRCh37 8 37823551 37823551 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 11 7 15 0 ENST00000345060.3:c.437G>A p.Gly146Asp p.G146D ENST00000345060 NM_000025.2 146 gGc/gAc 0 -ADRBK2 UCSF GRCh37 22 26110537 26110537 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 51 99 0 ENST00000324198.6:c.1654G>A p.Asp552Asn p.D552N ENST00000324198 NM_005160.3 552 Gat/Aat 0 -ADSL UCSF GRCh37 22 40749101 40749101 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 74 56 116 0 ENST00000216194.7:c.382C>T p.Leu128Phe p.L128F ENST00000216194 NM_000026.2 128 Ctt/Ttt 0 -AFF2 UCSF GRCh37 X 148037697 148037697 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 123 104 0 ENST00000370460.2:c.2122C>T p.Arg708Trp p.R708W ENST00000370460 NM_002025.3 708 Cgg/Tgg 0 -AFF4 UCSF GRCh37 5 132238158 132238158 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 34 90 0 ENST00000265343.5:c.1109C>T p.Thr370Ile p.T370I ENST00000265343 NM_014423.3 370 aCt/aTt 0 -AGA UCSF GRCh37 4 178357482 178357482 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 51 142 0 ENST00000264595.2:c.646G>A p.Gly216Arg p.G216R ENST00000264595 NM_001171988.1 216 Gga/Aga 0 -AGAP1 UCSF GRCh37 2 237029007 237029007 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 46 121 0 ENST00000304032.8:c.2286G>A p.Glu762= p.E762= ENST00000304032 NM_001037131.2 762 gaG/gaA 0 -AGAP5 UCSF GRCh37 10 75434558 75434558 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 66 285 0 ENST00000374094.4:c.1860G>A p.Gly620= p.G620= ENST00000374094 NM_001144000.1 620 ggG/ggA 0 -AGBL1 UCSF GRCh37 15 86790901 86790901 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 34 16 76 0 ENST00000441037.2:c.389-1G>A p.X130_splice ENST00000441037 NM_152336.2 0 -AGBL3 UCSF GRCh37 7 134674001 134674001 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 34 63 0 ENST00000436302.2:c.64G>A p.Asp22Asn p.D22N ENST00000436302 NM_178563.3 22 Gat/Aat 0 -AGBL5 UCSF GRCh37 2 27282331 27282331 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 69 151 0 ENST00000360131.4:c.2089+59G>A *697* ENST00000360131 NM_021831.5 0 -AGRP UCSF GRCh37 16 67516602 67516602 + synonymous_variant Silent SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 73 64 112 0 ENST00000290953.2:c.336C>T p.Phe112= p.F112= ENST00000290953 NM_001138.1 112 ttC/ttT 0 -AHCY UCSF GRCh37 20 32880197 32880197 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 37 88 0 ENST00000217426.2:c.412C>T p.Leu138Phe p.L138F ENST00000217426 NM_000687.2 138 Ctc/Ttc 0 -AHI1 UCSF GRCh37 6 135732643 135732643 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 162 116 240 0 ENST00000265602.6:c.2804G>A p.Gly935Glu p.G935E ENST00000265602 NM_001134831.1 935 gGa/gAa 0 -AHI1 UCSF GRCh37 6 135787067 135787067 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 164 325 0 ENST00000265602.6:c.634C>T p.Leu212= p.L212= ENST00000265602 NM_001134831.1 212 Ctg/Ttg 0 -AHNAK UCSF GRCh37 11 62284334 62284334 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 121 254 0 ENST00000378024.4:c.17555G>A p.Gly5852Glu p.G5852E ENST00000378024 NM_001620.2 5852 gGg/gAg 0 -AHNAK UCSF GRCh37 11 62294198 62294198 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 205 180 305 0 ENST00000378024.4:c.7691G>A p.Gly2564Glu p.G2564E ENST00000378024 NM_001620.2 2564 gGg/gAg 0 -AIM2 UCSF GRCh37 1 159036085 159036085 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 70 197 0 ENST00000368130.4:c.431C>T p.Ser144Phe p.S144F ENST00000368130 NM_004833.1 144 tCt/tTt 0 -AKAP11 UCSF GRCh37 13 42874392 42874392 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 110 66 188 0 ENST00000025301.2:c.1510C>T p.Leu504Phe p.L504F ENST00000025301 NM_016248.3 504 Ctt/Ttt 0 -PALM2AKAP2 UCSF GRCh37 9 112899087 112899087 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 69 67 129 0 ENST00000259318.7:c.570C>T p.Pro190= p.P190= ENST00000259318 NM_001136562.2 190 ccC/ccT 0 -AKAP3 UCSF GRCh37 12 4736817 4736817 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 172 129 258 0 ENST00000228850.1:c.1251C>T p.Asn417= p.N417= ENST00000228850 417 aaC/aaT 0 -AKAP8L UCSF GRCh37 19 15512246 15512246 + synonymous_variant Silent SNP A A T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 34 89 0 ENST00000397410.5:c.531T>A p.Gly177= p.G177= ENST00000397410 NM_014371.2 177 ggT/ggA 0 -AKR1C1 UCSF GRCh37 10 5008159 5008159 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 269 102 207 0 ENST00000380872.4:c.138C>T p.Phe46= p.F46= ENST00000380872 NM_001353.5 46 ttC/ttT 0 -AKR1E2 UCSF GRCh37 10 4872956 4872956 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 199 76 178 0 ENST00000298375.7:c.129G>A p.Glu43= p.E43= ENST00000298375 NM_001040177.2 43 gaG/gaA 0 -AKTIP UCSF GRCh37 16 53532381 53532381 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 142 117 278 0 ENST00000394657.7:c.170C>T p.Ala57Val p.A57V ENST00000394657 NM_022476.2 57 gCc/gTc 0 -ALDH1L1 UCSF GRCh37 3 125826076 125826076 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 77 172 0 ENST00000393434.2:c.2361G>A p.Glu787= p.E787= ENST00000393434 NM_012190.3 787 gaG/gaA 0 -ALDH3B1 UCSF GRCh37 11 67790074 67790074 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 41 70 0 ENST00000342456.6:c.847C>T p.Leu283= p.L283= ENST00000342456 NM_001030010.1 283 Ctg/Ttg 0 -ALDH3B2 UCSF GRCh37 11 67433865 67433865 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 13 17 0 ENST00000349015.3:c.159C>T p.Cys53= p.C53= ENST00000349015 NM_000695.3 53 tgC/tgT 0 -ALDH6A1 UCSF GRCh37 14 74533452 74533452 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 91 201 0 ENST00000553458.1:c.1180G>A p.Glu394Lys p.E394K ENST00000553458 NM_001278593.1 394 Gaa/Aaa 0 -ALG9 UCSF GRCh37 11 111708288 111708288 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 58 146 0 ENST00000531154.1:c.862G>A p.Asp288Asn p.D288N ENST00000531154 NM_024740.2 288 Gac/Aac 0 -ALKBH5 UCSF GRCh37 17 18110225 18110225 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 196 125 261 0 ENST00000399138.4:c.948G>A p.Arg316= p.R316= ENST00000399138 NM_017758.3 316 agG/agA 0 -ALMS1 UCSF GRCh37 2 73678109 73678109 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 165 137 267 0 ENST00000264448.6:c.4452C>T p.Ile1484= p.I1484= ENST00000264448 NM_015120.4 1484 atC/atT 0 -ALOX12B UCSF GRCh37 17 7977054 7977054 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 24 64 0 ENST00000319144.4:c.1676C>T p.Thr559Ile p.T559I ENST00000319144 NM_001139.2 559 aCc/aTc 0 -ALPL UCSF GRCh37 1 21890579 21890579 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 30 72 0 ENST00000374832.1:c.518C>T p.Thr173Ile p.T173I ENST00000374832 173 aCc/aTc 0 -ALPPL2 UCSF GRCh37 2 233274457 233274457 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 17 22 0 ENST00000295453.3:c.1474G>A p.Ala492Thr p.A492T ENST00000295453 NM_031313.2 492 Gcc/Acc 0 -ALS2CL UCSF GRCh37 3 46729143 46729143 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 22 46 0 ENST00000318962.4:c.334G>A p.Val112Met p.V112M ENST00000318962 NM_147129.3 112 Gtg/Atg 0 -ALS2CL UCSF GRCh37 3 46713075 46713075 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 58 39 88 0 ENST00000318962.4:c.2685-1G>A p.X895_splice ENST00000318962 NM_147129.3 0 -AMBRA1 UCSF GRCh37 11 46430176 46430176 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 38 73 0 ENST00000458649.2:c.3290C>T p.Thr1097Ile p.T1097I ENST00000458649 1097 aCc/aTc 0 -AMPD2 UCSF GRCh37 1 110173373 110173373 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 6 20 0 ENST00000256578.3:c.2388G>A p.Glu796= p.E796= ENST00000256578 NM_004037.7 796 gaG/gaA 0 -AMPH UCSF GRCh37 7 38534069 38534069 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 115 97 183 0 ENST00000356264.2:c.264C>T p.Asp88= p.D88= ENST00000356264 NM_001635.3 88 gaC/gaT 0 -AMT UCSF GRCh37 3 49455068 49455068 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 85 169 0 ENST00000273588.3:c.1117G>A p.Gly373Arg p.G373R ENST00000273588 NM_000481.3 373 Ggg/Agg 0 -AMY2A UCSF GRCh37 1 104160104 104160104 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 412 106 634 0 ENST00000414303.2:c.42G>A p.Trp14Ter p.W14* ENST00000414303 NM_000699.2 14 tgG/tgA 0 -ANK2 UCSF GRCh37 4 114276282 114276282 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 79 154 0 ENST00000357077.4:c.6508C>T p.Leu2170Phe p.L2170F ENST00000357077 NM_001148.4 2170 Ctc/Ttc 0 -ANK3 UCSF GRCh37 10 61898737 61898737 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 135 103 184 0 ENST00000280772.2:c.2723G>A p.Gly908Glu p.G908E ENST00000280772 NM_020987.3 908 gGa/gAa 0 -ANK3 UCSF GRCh37 10 61835701 61835701 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 66 154 0 ENST00000280772.2:c.4938C>T p.Ser1646= p.S1646= ENST00000280772 NM_020987.3 1646 tcC/tcT 0 -ANKDD1A UCSF GRCh37 15 65208096 65208096 + intron_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 30 63 0 ENST00000319580.8:c.34+3933C>T *12* ENST00000319580 0 -ANKRA2 UCSF GRCh37 5 72858513 72858513 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 184 147 257 0 ENST00000296785.3:c.194G>A p.Cys65Tyr p.C65Y ENST00000296785 NM_023039.4 65 tGt/tAt 0 -ANKRD11 UCSF GRCh37 16 89371633 89371633 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 35 64 0 ENST00000301030.4:c.207G>A p.Glu69= p.E69= ENST00000301030 NM_001256183.1 69 gaG/gaA 0 -ANKRD13B UCSF GRCh37 17 27939242 27939242 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 66 165 0 ENST00000394859.3:c.1209C>T p.Leu403= p.L403= ENST00000394859 NM_152345.4 403 ctC/ctT 0 -ANKRD13C UCSF GRCh37 1 70819858 70819858 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 60 134 0 ENST00000370944.4:c.234G>A p.Leu78= p.L78= ENST00000370944 NM_030816.4 78 ctG/ctA 0 -ANKRD13C UCSF GRCh37 1 70736609 70736609 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 34 102 0 ENST00000370944.4:c.1425C>T p.Pro475= p.P475= ENST00000370944 NM_030816.4 475 ccC/ccT 0 -ANKRD17 UCSF GRCh37 4 73957296 73957296 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 202 148 352 0 ENST00000358602.4:c.6049G>A p.Ala2017Thr p.A2017T ENST00000358602 NM_032217.3 2017 Gca/Aca 0 -ANKRD17 UCSF GRCh37 4 74017241 74017241 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 41 127 0 ENST00000358602.4:c.1235G>A p.Gly412Glu p.G412E ENST00000358602 NM_032217.3 412 gGa/gAa 0 -ANKRD2 UCSF GRCh37 10 99342361 99342361 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 66 168 0 ENST00000307518.5:c.835G>A p.Glu279Lys p.E279K ENST00000307518 279 Gaa/Aaa 0 -ANKRD20A4 UCSF GRCh37 9 69423583 69423583 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 444 83 953 0 ENST00000357336.3:c.1879G>A p.Glu627Lys p.E627K ENST00000357336 NM_001098805.1 627 Gaa/Aaa 0 -ANKRD36 UCSF GRCh37 2 97909671 97909671 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 156 93 300 0 ENST00000420699.2:c.4474C>T p.Gln1492Ter p.Q1492* ENST00000420699 NM_001164315.1 1492 Caa/Taa 0 -ANKRD57 UCSF GRCh37 2 110373562 110373562 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 49 108 0 ENST00000356454.3:c.1496G>A p.Gly499Glu p.G499E ENST00000356454 NM_023016.3 499 gGg/gAg 0 -ANKZF1 UCSF GRCh37 2 220095054 220095054 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 40 72 0 ENST00000323348.5:c.75C>T p.Val25= p.V25= ENST00000323348 NM_018089.2 25 gtC/gtT 0 -ANO10 UCSF GRCh37 3 43602826 43602826 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 80 213 0 ENST00000292246.3:c.1362G>A p.Trp454Ter p.W454* ENST00000292246 NM_018075.3 454 tgG/tgA 0 -ANO3 UCSF GRCh37 11 26484612 26484612 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 69 155 0 ENST00000256737.3:c.349G>A p.Glu117Lys p.E117K ENST00000256737 NM_031418.2 117 Gaa/Aaa 0 -ANO3 UCSF GRCh37 11 26664788 26664788 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 113 89 189 0 ENST00000256737.3:c.2335G>A p.Ala779Thr p.A779T ENST00000256737 NM_031418.2 779 Gct/Act 0 -ANXA7 UCSF GRCh37 10 75158082 75158082 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 34 79 0 ENST00000372919.4:c.116C>T p.Pro39Leu p.P39L ENST00000372919 NM_004034.2 39 cCt/cTt 0 -AOC3 UCSF GRCh37 17 41006484 41006484 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 44 33 74 0 ENST00000308423.2:c.1620G>A p.Trp540Ter p.W540* ENST00000308423 NM_003734.3 540 tgG/tgA 0 -AP1M1 UCSF GRCh37 19 16339647 16339647 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 41 86 0 ENST00000291439.3:c.955G>A p.Asp319Asn p.D319N ENST00000291439 NM_032493.3 319 Gat/Aat 0 -AP3D1 UCSF GRCh37 19 2114812 2114812 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 40 108 0 ENST00000345016.5:c.2358G>A p.Leu786= p.L786= ENST00000345016 NM_003938.6 786 ctG/ctA 0 -AP3M2 UCSF GRCh37 8 42025183 42025183 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 91 224 0 ENST00000174653.3:c.1012-1G>A p.X338_splice ENST00000174653 NM_006803.3 0 -APBB1IP UCSF GRCh37 10 26856330 26856330 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 59 17 52 0 ENST00000376236.4:c.1914G>A p.Gly638= p.G638= ENST00000376236 NM_019043.3 638 ggG/ggA 0 -APBB3 UCSF GRCh37 5 139942017 139942017 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 119 256 0 ENST00000357560.4:c.419G>A p.Ser140Asn p.S140N ENST00000357560 NM_133173.2 140 aGt/aAt 0 -APC UCSF GRCh37 5 112177881 112177881 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 129 76 219 0 ENST00000257430.4:c.6590G>A p.Ser2197Asn p.S2197N ENST00000257430 NM_000038.5 2197 aGt/aAt 0 -APLP1 UCSF GRCh37 19 36362177 36362177 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 13 28 0 ENST00000221891.4:c.463G>A p.Gly155Ser p.G155S ENST00000221891 NM_001024807.1 155 Ggc/Agc 0 -APOA4 UCSF GRCh37 11 116692033 116692033 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 72 170 0 ENST00000357780.3:c.741G>A p.Lys247= p.K247= ENST00000357780 NM_000482.3 247 aaG/aaA 0 -APPBP2 UCSF GRCh37 17 58571898 58571898 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 128 93 180 0 ENST00000083182.3:c.308G>A p.Arg103Lys p.R103K ENST00000083182 NM_006380.2 103 aGg/aAg 0 -AQP12B UCSF GRCh37 2 241621893 241621893 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 25 61 0 ENST00000407834.3:c.362G>A p.Gly121Asp p.G121D ENST00000407834 NM_001102467.1 121 gGc/gAc 0 -AQPEP UCSF GRCh37 5 115298720 115298720 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 36 68 0 ENST00000357872.4:c.406C>T p.Arg136Cys p.R136C ENST00000357872 NM_173800.4 136 Cgc/Tgc 0 -ARAP2 UCSF GRCh37 4 36212219 36212219 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 160 104 270 0 ENST00000303965.4:c.1280G>A p.Arg427Lys p.R427K ENST00000303965 NM_015230.3 427 aGa/aAa 0 -ARAP2 UCSF GRCh37 4 36149369 36149369 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 30 65 0 ENST00000303965.4:c.3001-1G>A p.X1001_splice ENST00000303965 NM_015230.3 0 -ARFGEF2 UCSF GRCh37 20 47601368 47601368 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 134 88 187 0 ENST00000371917.4:c.2061C>T p.Arg687= p.R687= ENST00000371917 NM_006420.2 687 cgC/cgT 0 -ARG1 UCSF GRCh37 6 131904993 131904993 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 76 159 0 ENST00000368087.3:c.914G>A p.Gly305Glu p.G305E ENST00000368087 305 gGa/gAa 0 -ARHGAP12 UCSF GRCh37 10 32120720 32120720 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 199 66 116 1 ENST00000344936.2:c.1395G>A p.Glu465= p.E465= ENST00000344936 NM_001270697.1 465 gaG/gaA 0 -ARHGAP17 UCSF GRCh37 16 24946897 24946897 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 31 59 0 ENST00000289968.6:c.1788G>A p.Gln596= p.Q596= ENST00000289968 NM_001006634.1 596 caG/caA 0 -ARHGAP21 UCSF GRCh37 10 24885691 24885691 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 211 74 166 0 ENST00000396432.2:c.3455G>A p.Cys1152Tyr p.C1152Y ENST00000396432 NM_020824.3 1152 tGc/tAc 0 -ARHGAP21 UCSF GRCh37 10 24922386 24922386 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 152 47 115 0 ENST00000396432.2:c.385G>A p.Gly129Arg p.G129R ENST00000396432 NM_020824.3 129 Gga/Aga 0 -ARHGAP24 UCSF GRCh37 4 86915904 86915904 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 183 158 302 0 ENST00000395184.1:c.1097C>T p.Thr366Ile p.T366I ENST00000395184 NM_001025616.2 366 aCc/aTc 0 -ARHGAP29 UCSF GRCh37 1 94643491 94643491 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 150 100 189 0 ENST00000260526.6:c.2713G>A p.Gly905Ser p.G905S ENST00000260526 NM_004815.3 905 Ggc/Agc 0 -ARHGAP29 UCSF GRCh37 1 94650550 94650550 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 32 79 0 ENST00000260526.6:c.1987C>T p.Pro663Ser p.P663S ENST00000260526 NM_004815.3 663 Cca/Tca 0 -ARHGAP29 UCSF GRCh37 1 94655595 94655595 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 55 109 0 ENST00000260526.6:c.1326C>T p.Ser442= p.S442= ENST00000260526 NM_004815.3 442 tcC/tcT 0 -ARHGAP35 UCSF GRCh37 19 47422027 47422027 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 175 149 251 0 ENST00000404338.3:c.95G>A p.Gly32Glu p.G32E ENST00000404338 NM_004491.4 32 gGg/gAg 0 -ARHGAP35 UCSF GRCh37 19 47423996 47423996 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 87 184 0 ENST00000404338.3:c.2064G>A p.Arg688= p.R688= ENST00000404338 NM_004491.4 688 cgG/cgA 0 -ARHGAP39 UCSF GRCh37 8 145759561 145759561 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 69 35 111 0 ENST00000276826.5:c.2547G>A p.Lys849= p.K849= ENST00000276826 849 aaG/aaA 0 -ARHGAP9 UCSF GRCh37 12 57869182 57869182 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 3 11 19 0 ENST00000393791.3:c.1445-1G>A p.X482_splice ENST00000393791 NM_032496.2 0 -ARHGAP9 UCSF GRCh37 12 57872322 57872322 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 75 137 0 ENST00000393791.3:c.534+1G>A p.X178_splice ENST00000393791 NM_032496.2 0 -ARHGEF17 UCSF GRCh37 11 73022664 73022664 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 65 129 0 ENST00000263674.3:c.2981C>T p.Ala994Val p.A994V ENST00000263674 NM_014786.3 994 gCc/gTc 0 -ARHGEF17 UCSF GRCh37 11 73076881 73076881 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 40 104 0 ENST00000263674.3:c.5884C>T p.Pro1962Ser p.P1962S ENST00000263674 NM_014786.3 1962 Ccc/Tcc 0 -ARID1A UCSF GRCh37 1 27101587 27101587 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 88 173 0 ENST00000324856.7:c.4869G>A p.Ser1623= p.S1623= ENST00000324856 NM_006015.4 1623 tcG/tcA 0 -ARL4D UCSF GRCh37 17 41477501 41477501 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 29 15 46 0 ENST00000320033.4:c.401C>T p.Ala134Val p.A134V ENST00000320033 NM_001661.3 134 gCc/gTc 0 -ARMC8 UCSF GRCh37 3 137956329 137956329 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 59 147 0 ENST00000469044.1:c.691G>A p.Val231Ile p.V231I ENST00000469044 NM_001267041.1 231 Gtt/Att 0 -BMAL2 UCSF GRCh37 12 27554297 27554297 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 80 171 0 ENST00000266503.5:c.1267+1G>A p.X423_splice ENST00000266503 0 -ARSI UCSF GRCh37 5 149678062 149678062 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 47 70 0 ENST00000328668.7:c.425C>T p.Thr142Ile p.T142I ENST00000328668 NM_001012301.2 142 aCc/aTc 0 -ASB14 UCSF GRCh37 3 57322030 57322030 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P18_Rec Untested WXS Illumina HiSeq 6 0 ENST00000389601.3:c.371del p.Leu124TrpfsTer8 p.L124Wfs*8 ENST00000389601 NM_130387.5 124 tTg/tg 0 -ASB14 UCSF GRCh37 3 57317424 57317424 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 64 141 0 ENST00000389601.3:c.516C>T p.Asn172= p.N172= ENST00000389601 NM_130387.5 172 aaC/aaT 0 -ASCL4 UCSF GRCh37 12 108169329 108169329 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 8 17 0 ENST00000342331.4:c.337G>A p.Glu113Lys p.E113K ENST00000342331 NM_203436.2 113 Gag/Aag 0 -ASH1L UCSF GRCh37 1 155449560 155449560 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 109 198 0 ENST00000368346.3:c.3101G>A p.Gly1034Asp p.G1034D ENST00000368346 1034 gGc/gAc 0 -ASH1L UCSF GRCh37 1 155451426 155451426 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 89 220 0 ENST00000368346.3:c.1235C>T p.Pro412Leu p.P412L ENST00000368346 412 cCt/cTt 0 -ASTN2 UCSF GRCh37 9 119568068 119568068 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 113 266 0 ENST00000313400.4:c.2239G>A p.Gly747Arg p.G747R ENST00000313400 747 Gga/Aga 0 -ASTN2 UCSF GRCh37 9 120053656 120053656 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 37 88 0 ENST00000313400.4:c.579G>A p.Glu193= p.E193= ENST00000313400 193 gaG/gaA 0 -ASXL3 UCSF GRCh37 18 31326351 31326351 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 151 108 207 0 ENST00000269197.5:c.6539G>A p.Ser2180Asn p.S2180N ENST00000269197 NM_030632.1 2180 aGt/aAt 0 -ATAD3A UCSF GRCh37 1 1464667 1464667 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 21 15 40 0 ENST00000378755.5:c.1714G>A p.Gly572Ser p.G572S ENST00000378755 NM_018188.3 572 Ggc/Agc 0 -ATF7IP UCSF GRCh37 12 14631306 14631306 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 177 125 271 0 ENST00000261168.4:c.2997G>A p.Val999= p.V999= ENST00000261168 NM_018179.3 999 gtG/gtA 0 -ATG14 UCSF GRCh37 14 55836494 55836494 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 102 62 154 0 ENST00000247178.5:c.1322C>T p.Pro441Leu p.P441L ENST00000247178 NM_014924.4 441 cCc/cTc 0 -ATG2B UCSF GRCh37 14 96772039 96772039 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 65 127 0 ENST00000359933.4:c.4620C>T p.His1540= p.H1540= ENST00000359933 NM_018036.5 1540 caC/caT 0 -ATG3 UCSF GRCh37 3 112280342 112280342 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 16 60 0 ENST00000283290.5:c.34G>A p.Ala12Thr p.A12T ENST00000283290 NM_022488.4 12 Gca/Aca 0 -ATG9B UCSF GRCh37 7 150720273 150720273 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 172 116 229 0 ENST00000377974.2:c.680C>T p.Thr227Ile p.T227I ENST00000377974 227 aCc/aTc 0 -ATIC UCSF GRCh37 2 216177284 216177284 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 111 91 211 0 ENST00000236959.9:c.83G>A p.Gly28Asp p.G28D ENST00000236959 NM_004044.6 28 gGt/gAt 0 -ATM UCSF GRCh37 11 108183179 108183179 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 94 231 0 ENST00000278616.4:c.5960C>T p.Ser1987Phe p.S1987F ENST00000278616 NM_000051.3 1987 tCt/tTt 0 -ATP10D UCSF GRCh37 4 47537949 47537949 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 93 156 0 ENST00000273859.3:c.914G>A p.Ser305Asn p.S305N ENST00000273859 NM_020453.3 305 aGt/aAt 0 -ATP11B UCSF GRCh37 3 182554943 182554943 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 61 138 0 ENST00000323116.5:c.637C>T p.Pro213Ser p.P213S ENST00000323116 NM_014616.2 213 Cca/Tca 0 -ATP13A1 UCSF GRCh37 19 19767531 19767531 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 46 123 0 ENST00000357324.6:c.1021C>T p.Leu341= p.L341= ENST00000357324 NM_020410.2 341 Ctg/Ttg 0 -ATP13A5 UCSF GRCh37 3 193007755 193007755 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 65 132 0 ENST00000342358.4:c.2942C>T p.Ser981Phe p.S981F ENST00000342358 NM_198505.2 981 tCc/tTc 0 -ATP13A5 UCSF GRCh37 3 193032873 193032873 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 135 87 238 0 ENST00000342358.4:c.2046G>A p.Glu682= p.E682= ENST00000342358 NM_198505.2 682 gaG/gaA 0 -ATP1A2 UCSF GRCh37 1 160099137 160099137 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 168 137 236 0 ENST00000361216.3:c.1408G>A p.Asp470Asn p.D470N ENST00000361216 NM_000702.3 470 Gac/Aac 0 -ATP1A4 UCSF GRCh37 1 160136808 160136808 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 60 127 0 ENST00000368081.4:c.1297G>A p.Ala433Thr p.A433T ENST00000368081 NM_144699.3 433 Gct/Act 0 -ATP2A1 UCSF GRCh37 16 28893772 28893772 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 146 42 103 0 ENST00000357084.3:c.325G>A p.Glu109Lys p.E109K ENST00000357084 NM_173201.3 109 Gag/Aag 0 -ATP2B1 UCSF GRCh37 12 89992395 89992395 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 215 142 282 0 ENST00000428670.3:c.3351+499C>T *1117* ENST00000428670 0 -ATP2B2 UCSF GRCh37 3 10401790 10401790 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 23 74 0 ENST00000352432.4:c.1677C>T p.Gly559= p.G559= ENST00000352432 559 ggC/ggT 0 -ATP2B4 UCSF GRCh37 1 203676351 203676351 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 63 44 114 0 ENST00000357681.5:c.1314G>A p.Lys438= p.K438= ENST00000357681 NM_001684.4 438 aaG/aaA 0 -ATP4A UCSF GRCh37 19 36051518 36051518 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 22 40 0 ENST00000262623.3:c.535-1G>A p.X179_splice ENST00000262623 NM_000704.2 0 -ATP5B UCSF GRCh37 12 57036564 57036564 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 80 166 0 ENST00000262030.3:c.844G>A p.Val282Ile p.V282I ENST00000262030 NM_001686.3 282 Gta/Ata 0 -ATP5D UCSF GRCh37 19 1244102 1244102 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 10 16 0 ENST00000215375.2:c.302G>A p.Ser101Asn p.S101N ENST00000215375 NM_001687.4 101 aGc/aAc 0 -ATP6V1B1 UCSF GRCh37 2 71191996 71191996 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 59 55 91 0 ENST00000234396.4:c.1378+1G>A p.X460_splice ENST00000234396 NM_001692.3 0 -ATP7B UCSF GRCh37 13 52511448 52511448 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 62 138 0 ENST00000242839.4:c.3985C>T p.Leu1329= p.L1329= ENST00000242839 NM_000053.3 1329 Ctg/Ttg 0 -ATP8B2 UCSF GRCh37 1 154310054 154310054 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 111 219 0 ENST00000368489.3:c.1133+34G>A *378* ENST00000368489 NM_020452.3 0 -ATP8B4 UCSF GRCh37 15 50190448 50190448 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 53 100 0 ENST00000284509.6:c.2290G>A p.Ala764Thr p.A764T ENST00000284509 NM_024837.3 764 Gct/Act 0 -ATPIF1 UCSF GRCh37 1 28562889 28562889 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 62 143 0 ENST00000335514.5:c.105G>A p.Arg35= p.R35= ENST00000335514 NM_016311.4 35 cgG/cgA 0 -ATRN UCSF GRCh37 20 3624900 3624900 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 93 176 0 ENST00000262919.5:c.4150C>T p.Pro1384Ser p.P1384S ENST00000262919 NM_139321.2 1384 Cct/Tct 0 -ATRN UCSF GRCh37 20 3624889 3624889 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 77 162 0 ENST00000262919.5:c.4139G>A p.Gly1380Asp p.G1380D ENST00000262919 NM_139321.2 1380 gGt/gAt 0 -ATRN UCSF GRCh37 20 3556596 3556596 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 60 138 0 ENST00000262919.5:c.2214+1G>A p.X738_splice ENST00000262919 NM_139321.2 0 -ATRN UCSF GRCh37 20 3575208 3575208 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 36 23 78 0 ENST00000262919.5:c.3405C>T p.Asp1135= p.D1135= ENST00000262919 NM_139321.2 1135 gaC/gaT 0 -ATRX UCSF GRCh37 X 76918998 76918999 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 62 0 ENST00000373344.5:c.3993dup p.Lys1332Ter p.K1332* ENST00000373344 NM_000489.3 1331 tct/tcTt 0 -ATXN1 UCSF GRCh37 6 16326873 16326873 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 63 49 117 1 ENST00000244769.4:c.1669G>A p.Val557Met p.V557M ENST00000244769 NM_000332.3 557 Gtg/Atg 0 -ATXN7L1 UCSF GRCh37 7 105254967 105254967 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 85 165 0 ENST00000419735.3:c.1814C>T p.Ser605Phe p.S605F ENST00000419735 NM_020725.1 605 tCc/tTc 0 -AURKC UCSF GRCh37 19 57744827 57744827 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 65 150 0 ENST00000302804.7:c.436-1G>A p.X146_splice ENST00000302804 NM_001015878.1 0 -AUTS2 UCSF GRCh37 7 69755436 69755436 + intron_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 123 111 208 0 ENST00000342771.4:c.661-145302C>T *221* ENST00000342771 NM_015570.2 0 -AVP UCSF GRCh37 20 3065294 3065294 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 80 129 0 ENST00000380293.3:c.27C>T p.Cys9= p.C9= ENST00000380293 NM_000490.4 9 tgC/tgT 0 -AVPI1 UCSF GRCh37 10 99439523 99439523 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 16 66 0 ENST00000370626.3:c.140G>A p.Gly47Glu p.G47E ENST00000370626 NM_021732.2 47 gGg/gAg 0 -AVPR1B UCSF GRCh37 1 206224614 206224614 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 48 133 0 ENST00000367126.4:c.174C>T p.Thr58= p.T58= ENST00000367126 NM_000707.3 58 acC/acT 0 -AXIN2 UCSF GRCh37 17 63554369 63554369 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 183 128 254 0 ENST00000307078.5:c.370G>A p.Asp124Asn p.D124N ENST00000307078 NM_004655.3 124 Gat/Aat 0 -AXIN2 UCSF GRCh37 17 63526149 63526149 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 91 195 0 ENST00000307078.5:c.2477C>T p.Thr826Met p.T826M ENST00000307078 NM_004655.3 826 aCg/aTg 0 -AZI2 UCSF GRCh37 3 28378370 28378370 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 76 186 0 ENST00000479665.1:c.446G>A p.Arg149Lys p.R149K ENST00000479665 NM_022461.4 149 aGg/aAg 0 -B3GALT5 UCSF GRCh37 21 41033171 41033171 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 82 214 0 ENST00000343118.4:c.685G>A p.Val229Met p.V229M ENST00000343118 NM_033171.2 229 Gtg/Atg 0 -B3GNT7 UCSF GRCh37 2 232262835 232262835 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 41 93 0 ENST00000287590.5:c.405C>T p.Tyr135= p.Y135= ENST00000287590 NM_145236.2 135 taC/taT 0 -B4GALNT2 UCSF GRCh37 17 47210398 47210398 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 24 37 0 ENST00000300404.2:c.11C>T p.Ala4Val p.A4V ENST00000300404 NM_153446.2 4 gCt/gTt 0 -B4GALNT2 UCSF GRCh37 17 47246984 47246984 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 58 142 0 ENST00000300404.2:c.1595C>T p.Ala532Val p.A532V ENST00000300404 NM_153446.2 532 gCt/gTt 0 -B4GALNT2 UCSF GRCh37 17 47247083 47247083 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 47 41 99 0 ENST00000300404.2:c.1694C>T p.Ala565Val p.A565V ENST00000300404 NM_153446.2 565 gCc/gTc 0 -B4GALT5 UCSF GRCh37 20 48257080 48257080 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 82 198 1 ENST00000371711.4:c.729C>T p.Arg243= p.R243= ENST00000371711 NM_004776.3 243 cgC/cgT 0 -BACH1 UCSF GRCh37 21 30714969 30714969 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 61 183 0 ENST00000286800.3:c.2026C>T p.Pro676Ser p.P676S ENST00000286800 NM_001186.2 676 Cct/Tct 0 -BACH2 UCSF GRCh37 6 90718495 90718495 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 67 145 0 ENST00000257749.4:c.69C>T p.Ile23= p.I23= ENST00000257749 NM_021813.2 23 atC/atT 0 -BAG2 UCSF GRCh37 6 57048790 57048790 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 76 183 0 ENST00000370693.5:c.438G>A p.Val146= p.V146= ENST00000370693 NM_004282.3 146 gtG/gtA 0 -BAIAP3 UCSF GRCh37 16 1397301 1397301 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 36 9 31 0 ENST00000324385.5:c.2859C>T p.Ala953= p.A953= ENST00000324385 NM_003933.4 953 gcC/gcT 0 -BANK1 UCSF GRCh37 4 102984291 102984291 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 33 108 0 ENST00000322953.4:c.2208C>T p.Val736= p.V736= ENST00000322953 NM_017935.4 736 gtC/gtT 0 -BAZ2B UCSF GRCh37 2 160269006 160269006 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 51 101 0 ENST00000392783.2:c.2517G>A p.Arg839= p.R839= ENST00000392783 NM_013450.2 839 agG/agA 0 -BBS7 UCSF GRCh37 4 122768661 122768661 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 91 181 0 ENST00000264499.4:c.935G>A p.Gly312Asp p.G312D ENST00000264499 NM_176824.2 312 gGc/gAc 0 -BBX UCSF GRCh37 3 107497265 107497265 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 84 194 0 ENST00000325805.8:c.2102C>T p.Pro701Leu p.P701L ENST00000325805 701 cCt/cTt 0 -BCAR3 UCSF GRCh37 1 94032835 94032835 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 64 119 0 ENST00000260502.6:c.2299+1G>A p.X767_splice ENST00000260502 NM_003567.3 0 -BCAT2 UCSF GRCh37 19 49300543 49300543 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 23 40 0 ENST00000316273.6:c.743G>A p.Gly248Asp p.G248D ENST00000316273 NM_001190.3 248 gGc/gAc 0 -BCL11A UCSF GRCh37 2 60688867 60688867 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 73 113 0 ENST00000335712.6:c.1180G>A p.Val394Met p.V394M ENST00000335712 NM_022893.3 394 Gtg/Atg 0 -BCL11B UCSF GRCh37 14 99723979 99723979 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 67 129 0 ENST00000357195.3:c.256G>A p.Gly86Ser p.G86S ENST00000357195 NM_138576.2 86 Ggt/Agt 0 -BCL11B UCSF GRCh37 14 99724090 99724090 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 58 107 0 ENST00000357195.3:c.145G>A p.Gly49Ser p.G49S ENST00000357195 NM_138576.2 49 Ggt/Agt 0 -BCL9L UCSF GRCh37 11 118770897 118770897 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 10 47 0 ENST00000334801.3:c.3135G>A p.Pro1045= p.P1045= ENST00000334801 NM_182557.2 1045 ccG/ccA 0 -BCLAF1 UCSF GRCh37 6 136597646 136597646 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 110 83 246 0 ENST00000531224.1:c.1017G>A p.Arg339= p.R339= ENST00000531224 NM_001077441.1 339 agG/agA 0 -BCORL1 UCSF GRCh37 X 129148508 129148508 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 7 50 77 0 ENST00000218147.7:c.1760C>T p.Thr587Ile p.T587I ENST00000218147 587 aCc/aTc 0 -BDP1 UCSF GRCh37 5 70819776 70819776 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 72 176 0 ENST00000358731.4:c.5398C>T p.Pro1800Ser p.P1800S ENST00000358731 NM_018429.2 1800 Ccg/Tcg 0 -BEX2 UCSF GRCh37 X 102564611 102564611 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 152 153 0 ENST00000372674.1:c.294G>A p.Lys98= p.K98= ENST00000372674 NM_001168401.1 98 aaG/aaA 0 -BHLHE40 UCSF GRCh37 3 5024966 5024966 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 317 75 178 0 ENST00000256495.3:c.828C>T p.Gly276= p.G276= ENST00000256495 NM_003670.2 276 ggC/ggT 0 -BIN1 UCSF GRCh37 2 127808783 127808783 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 20 33 0 ENST00000316724.5:c.1408C>T p.Pro470Ser p.P470S ENST00000316724 NM_139343.2 470 Cct/Tct 0 -BLM UCSF GRCh37 15 91328173 91328173 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 139 252 0 ENST00000355112.3:c.2685C>T p.Cys895= p.C895= ENST00000355112 NM_000057.2 895 tgC/tgT 0 -BMP4 UCSF GRCh37 14 54417031 54417031 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 60 50 109 0 ENST00000245451.4:c.946G>A p.Asp316Asn p.D316N ENST00000245451 NM_001202.3 316 Gac/Aac 0 -BOD1L UCSF GRCh37 4 13603033 13603033 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 222 159 354 0 ENST00000040738.5:c.5491G>A p.Asp1831Asn p.D1831N ENST00000040738 NM_148894.2 1831 Gac/Aac 0 -BOD1L UCSF GRCh37 4 13616011 13616011 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 80 212 0 ENST00000040738.5:c.983G>A p.Ser328Asn p.S328N ENST00000040738 NM_148894.2 328 aGc/aAc 0 -BPHL UCSF GRCh37 6 3140744 3140744 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 166 88 214 0 ENST00000380379.5:c.788+1G>A p.X263_splice ENST00000380379 NM_004332.2 0 -BPIFB1 UCSF GRCh37 20 31897518 31897518 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 74 54 138 1 ENST00000253354.1:c.1400C>T p.Ala467Val p.A467V ENST00000253354 NM_033197.2 467 gCc/gTc 0 -BPIFB3 UCSF GRCh37 20 31644420 31644420 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 77 180 0 ENST00000375494.3:c.197G>A p.Gly66Asp p.G66D ENST00000375494 NM_182658.1 66 gGc/gAc 0 -BPTF UCSF GRCh37 17 65955886 65955886 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 61 112 0 ENST00000321892.4:c.8534C>T p.Ser2845Phe p.S2845F ENST00000321892 2845 tCc/tTc 0 -BRCA1 UCSF GRCh37 17 41215370 41215370 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 45 125 0 ENST00000357654.3:c.5173G>A p.Glu1725Lys p.E1725K ENST00000357654 NM_007294.3 1725 Gaa/Aaa 0 -BRCA2 UCSF GRCh37 13 32910602 32910602 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 61 148 0 ENST00000380152.3:c.2110C>T p.Pro704Ser p.P704S ENST00000380152 704 Cca/Tca 0 -BRCA2 UCSF GRCh37 13 32930720 32930720 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 145 85 262 0 ENST00000380152.3:c.7591G>A p.Val2531Ile p.V2531I ENST00000380152 2531 Gtt/Att 0 -BRD1 UCSF GRCh37 22 50187939 50187939 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 43 93 0 ENST00000216267.8:c.2102A>T p.Asp701Val p.D701V ENST00000216267 NM_014577.1 701 gAc/gTc 0 -BRD2 UCSF GRCh37 6 32944590 32944590 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 160 132 238 0 ENST00000374825.4:c.1077G>A p.Glu359= p.E359= ENST00000374825 NM_005104.3 359 gaG/gaA 0 -BRF1 UCSF GRCh37 14 105685573 105685573 + splice_region_variant,intron_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 62 51 126 0 ENST00000546474.1:c.1378-4C>T p.X460_splice ENST00000546474 NM_001519.3 0 -BRI3 UCSF GRCh37 7 97920429 97920429 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 64 48 118 0 ENST00000297290.3:c.252G>A p.Gly84= p.G84= ENST00000297290 NM_015379.4 84 ggG/ggA 0 -BRPF1 UCSF GRCh37 3 9775866 9775866 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 60 131 0 ENST00000457855.1:c.42G>A p.Leu14= p.L14= ENST00000457855 14 ttG/ttA 0 -BRPF3 UCSF GRCh37 6 36178173 36178173 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 78 146 0 ENST00000357641.6:c.2047C>T p.Arg683Trp p.R683W ENST00000357641 NM_015695.2 683 Cgg/Tgg 0 -BRPF3 UCSF GRCh37 6 36185780 36185780 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 62 121 0 ENST00000357641.6:c.3076G>A p.Ala1026Thr p.A1026T ENST00000357641 NM_015695.2 1026 Gct/Act 0 -BSND UCSF GRCh37 1 55473906 55473906 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 36 23 78 0 ENST00000371265.4:c.568G>A p.Gly190Ser p.G190S ENST00000371265 NM_057176.2 190 Ggc/Agc 0 -BTBD9 UCSF GRCh37 6 38545422 38545422 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 74 182 0 ENST00000481247.1:c.1108C>T p.Leu370= p.L370= ENST00000481247 NM_052893.1 370 Ctg/Ttg 0 -BTD UCSF GRCh37 3 15686403 15686403 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 132 99 209 0 ENST00000303498.5:c.1040C>T p.Ala347Val p.A347V ENST00000303498 NM_000060.2 347 gCa/gTa 0 -BTN2A2 UCSF GRCh37 6 26385433 26385433 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 62 162 0 ENST00000356709.4:c.285G>A p.Glu95= p.E95= ENST00000356709 NM_001197240.1 95 gaG/gaA 0 -BUD13 UCSF GRCh37 11 116633778 116633778 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 96 257 0 ENST00000260210.4:c.527C>T p.Pro176Leu p.P176L ENST00000260210 NM_032725.3 176 cCt/cTt 0 -BZRAP1 UCSF GRCh37 17 56382433 56382433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 41 28 63 0 ENST00000343736.4:c.5533G>A p.Ala1845Thr p.A1845T ENST00000343736 1845 Gct/Act 0 -C10orf10 UCSF GRCh37 10 45473473 45473473 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 39 77 0 ENST00000298295.3:c.6G>A p.Arg2= p.R2= ENST00000298295 NM_007021.3 2 agG/agA 0 -LCOR UCSF GRCh37 10 98744434 98744434 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 72 157 0 ENST00000286067.2:c.3287G>A p.Ser1096Asn p.S1096N ENST00000286067 NM_015652.2 1096 aGc/aAc 0 -C10orf92 UCSF GRCh37 10 134647012 134647012 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 34 141 0 ENST00000368586.5:c.6967G>A p.Val2323Ile p.V2323I ENST00000368586 NM_001200049.2 2323 Gtt/Att 0 -C11orf2 UCSF GRCh37 11 64875733 64875733 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 18 6 26 0 ENST00000279281.3:c.790C>T p.Pro264Ser p.P264S ENST00000279281 NM_013265.3 264 Cct/Tct 0 -C11orf34 UCSF GRCh37 11 112123133 112123133 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 59 141 0 ENST00000338832.2:c.387-1G>A p.X129_splice ENST00000338832 NM_001145024.1 0 -C11orf41 UCSF GRCh37 11 33680437 33680437 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 42 33 54 0 ENST00000321505.4:c.5109T>C p.Asn1703= p.N1703= ENST00000321505 1703 aaT/aaC 0 -C11orf67 UCSF GRCh37 11 77553552 77553552 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 101 48 136 0 ENST00000393427.2:c.10C>T p.Pro4Ser p.P4S ENST00000393427 NM_024684.2 4 Cct/Tct 0 -C11orf80 UCSF GRCh37 11 66583523 66583523 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 98 202 0 ENST00000360962.4:c.1190-1G>A p.X397_splice ENST00000360962 NM_024650.3 0 -C12orf41 UCSF GRCh37 12 49054188 49054188 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 94 192 0 ENST00000420613.2:c.1188G>A p.Glu396= p.E396= ENST00000420613 NM_017822.3 396 gaG/gaA 0 -C12orf51 UCSF GRCh37 12 112605305 112605305 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 34 102 0 ENST00000550722.1:c.11912G>A p.Gly3971Glu p.G3971E ENST00000550722 NM_001109662.3 3971 gGg/gAg 0 -C13orf35 UCSF GRCh37 13 113333890 113333890 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 17 83 0 ENST00000356049.1:c.197G>A p.Gly66Asp p.G66D ENST00000356049 NM_207440.1 66 gGt/gAt 0 -C14orf169 UCSF GRCh37 14 73959400 73959400 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 56 48 111 0 ENST00000304061.5:n.1755G>A *585* ENST00000304061 0 -C14orf93 UCSF GRCh37 14 23467838 23467838 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 60 60 127 0 ENST00000299088.6:c.395G>A p.Gly132Glu p.G132E ENST00000299088 NM_001130708.1 132 gGg/gAg 0 -C15orf2 UCSF GRCh37 15 24921955 24921955 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 72 143 0 ENST00000329468.2:c.941G>A p.Ser314Asn p.S314N ENST00000329468 NM_018958.2 314 aGc/aAc 0 -C15orf38 UCSF GRCh37 15 90454051 90454051 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 44 77 0 ENST00000357484.5:c.93G>A p.Gly31= p.G31= ENST00000357484 NM_182616.2 31 ggG/ggA 0 -C15orf48 UCSF GRCh37 15 45723270 45723270 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 81 231 0 ENST00000344300.3:c.108G>A p.Trp36Ter p.W36* ENST00000344300 NM_032413.3 36 tgG/tgA 0 -C16orf11 UCSF GRCh37 16 613964 613964 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 8 13 0 ENST00000409413.3:c.670G>A p.Gly224Arg p.G224R ENST00000409413 NM_145270.2 224 Ggg/Agg 0 -C16orf79 UCSF GRCh37 16 2260557 2260557 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 27 37 0 ENST00000562360.1:c.146G>A p.Gly49Glu p.G49E ENST00000562360 49 gGa/gAa 0 -C16orf88 UCSF GRCh37 16 19722714 19722714 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 57 100 0 ENST00000219837.7:c.967G>A p.Asp323Asn p.D323N ENST00000219837 NM_001012991.2 323 Gat/Aat 0 -C16orf93 UCSF GRCh37 16 30770562 30770562 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 64 150 0 ENST00000543610.1:c.664C>T p.Leu222= p.L222= ENST00000543610 NM_001014979.2 222 Ctg/Ttg 0 -C17orf104 UCSF GRCh37 17 42745396 42745396 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 79 223 0 ENST00000409122.2:c.2117C>T p.Ser706Phe p.S706F ENST00000409122 NM_001145080.2 706 tCc/tTc 0 -C17orf108 UCSF GRCh37 17 26207345 26207345 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 126 85 210 0 ENST00000379102.3:c.174G>A p.Gln58= p.Q58= ENST00000379102 58 caG/caA 0 -C17orf61 UCSF GRCh37 17 7306428 7306428 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 71 141 0 ENST00000302422.3:c.299G>A p.Gly100Glu p.G100E ENST00000302422 NM_152766.3 100 gGa/gAa 0 -C17orf74 UCSF GRCh37 17 7330367 7330367 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 22 49 0 ENST00000333870.3:c.1057C>T p.Leu353Phe p.L353F ENST00000333870 NM_175734.4 353 Ctt/Ttt 0 -C19orf55 UCSF GRCh37 19 36258896 36258896 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 8 17 0 ENST00000396908.4:c.1149G>A p.Pro383= p.P383= ENST00000396908 NM_001039887.2 383 ccG/ccA 0 -C1orf101 UCSF GRCh37 1 244715903 244715903 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 145 103 214 0 ENST00000366534.4:c.816C>T p.Ile272= p.I272= ENST00000366534 NM_001130957.1 272 atC/atT 0 -C1orf141 UCSF GRCh37 1 67559268 67559268 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 54 119 0 ENST00000371006.1:c.623C>T p.Pro208Leu p.P208L ENST00000371006 208 cCc/cTc 0 -C1orf146 UCSF GRCh37 1 92710342 92710342 + synonymous_variant Silent SNP G G C NOVEL P18_Rec Untested WXS Illumina HiSeq 74 50 131 0 ENST00000370375.3:c.336G>C p.Leu112= p.L112= ENST00000370375 NM_001012425.1 112 ctG/ctC 0 -C1orf172 UCSF GRCh37 1 27278215 27278215 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 40 93 0 ENST00000320567.5:c.657C>T p.Phe219= p.F219= ENST00000320567 NM_152365.2 219 ttC/ttT 0 -C1orf174 UCSF GRCh37 1 3806606 3806606 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 69 163 0 ENST00000361605.3:c.650C>T p.Ser217Leu p.S217L ENST00000361605 NM_207356.2 217 tCa/tTa 0 -C1orf177 UCSF GRCh37 1 55273208 55273208 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 14 22 0 ENST00000371273.3:c.202G>A p.Gly68Ser p.G68S ENST00000371273 NM_001110533.1 68 Ggc/Agc 0 -C1orf185 UCSF GRCh37 1 51578242 51578242 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 48 137 0 ENST00000371759.2:c.122+1G>A p.X41_splice ENST00000371759 NM_001136508.1 0 -C1orf201 UCSF GRCh37 1 24687346 24687346 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 153 138 261 0 ENST00000337248.4:c.923G>A p.Gly308Asp p.G308D ENST00000337248 NM_001199014.1 308 gGc/gAc 0 -C1orf55 UCSF GRCh37 1 226176044 226176044 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 89 179 0 ENST00000272091.7:c.687G>A p.Glu229= p.E229= ENST00000272091 NM_152608.3 229 gaG/gaA 0 -C1orf9 UCSF GRCh37 1 172525047 172525047 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 76 46 122 0 ENST00000263688.3:c.327G>A p.Glu109= p.E109= ENST00000263688 NM_014283.3 109 gaG/gaA 0 -C1QC UCSF GRCh37 1 22974240 22974240 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 49 132 0 ENST00000374637.1:c.702C>T p.Asp234= p.D234= ENST00000374637 234 gaC/gaT 0 -C1QL1 UCSF GRCh37 17 43037688 43037688 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 53 93 0 ENST00000253407.3:c.645C>T p.Tyr215= p.Y215= ENST00000253407 NM_006688.3 215 taC/taT 0 -C1QTNF7 UCSF GRCh37 4 15444252 15444252 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 97 193 0 ENST00000429690.1:c.699G>A p.Gly233= p.G233= ENST00000429690 NM_001135171.1 233 ggG/ggA 0 -C1S UCSF GRCh37 12 7172428 7172428 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 57 128 0 ENST00000328916.3:c.542C>T p.Thr181Ile p.T181I ENST00000328916 NM_201442.2 181 aCt/aTt 0 -C20orf118 UCSF GRCh37 20 35515860 35515860 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 85 155 0 ENST00000217320.3:c.441C>T p.Val147= p.V147= ENST00000217320 NM_080628.1 147 gtC/gtT 0 -C20orf152 UCSF GRCh37 20 34571991 34571991 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 60 110 0 ENST00000373973.3:c.495G>A p.Lys165= p.K165= ENST00000373973 165 aaG/aaA 0 -C20orf173 UCSF GRCh37 20 34117064 34117064 + 5_prime_UTR_variant 5'UTR SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 33 76 0 ENST00000246199.2:c.-206C>T *69* ENST00000246199 0 -C20orf194 UCSF GRCh37 20 3296417 3296417 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 119 76 171 0 ENST00000252032.9:c.1555G>A p.Val519Ile p.V519I ENST00000252032 NM_001009984.2 519 Gta/Ata 0 -C20orf194 UCSF GRCh37 20 3305607 3305607 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 119 95 219 0 ENST00000252032.9:c.1197G>A p.Glu399= p.E399= ENST00000252032 NM_001009984.2 399 gaG/gaA 0 -C20orf203 UCSF GRCh37 20 31238448 31238448 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 13 20 0 ENST00000608990.1:n.944G>A *315* ENST00000608990 0 -C20orf4 UCSF GRCh37 20 34828399 34828399 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 69 163 0 ENST00000320849.4:c.609G>A p.Gly203= p.G203= ENST00000320849 NM_001271874.1 203 ggG/ggA 0 -C20orf43 UCSF GRCh37 20 55088414 55088414 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 13 29 0 ENST00000357348.5:c.611G>A p.Gly204Asp p.G204D ENST00000357348 NM_001283035.1 204 gGc/gAc 0 -C20orf54 UCSF GRCh37 20 745983 745983 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 67 43 87 0 ENST00000217254.7:c.436G>A p.Gly146Arg p.G146R ENST00000217254 NM_033409.3 146 Gga/Aga 0 -C20orf79 UCSF GRCh37 20 18794477 18794477 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 63 143 0 ENST00000377428.2:c.18C>T p.Asp6= p.D6= ENST00000377428 NM_178483.2 6 gaC/gaT 0 -C22orf13 UCSF GRCh37 22 24944004 24944004 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 51 77 0 ENST00000407471.3:c.166G>A p.Ala56Thr p.A56T ENST00000407471 NM_001284251.1 56 Gcc/Acc 0 -C22orf28 UCSF GRCh37 22 32793982 32793982 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 90 179 0 ENST00000216038.5:c.760G>A p.Val254Met p.V254M ENST00000216038 NM_014306.4 254 Gtg/Atg 0 -C2CD3 UCSF GRCh37 11 73789637 73789637 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 85 200 0 ENST00000334126.7:c.4126G>A p.Glu1376Lys p.E1376K ENST00000334126 NM_001286577.1 1376 Gaa/Aaa 0 -C2orf16 UCSF GRCh37 2 27799614 27799614 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 82 138 0 ENST00000408964.2:c.175G>A p.Asp59Asn p.D59N ENST00000408964 NM_032266.3 59 Gat/Aat 0 -C2orf40 UCSF GRCh37 2 106694240 106694240 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0054,snp132_rs117849769 P18_Rec Untested WXS Illumina HiSeq 129 106 196 0 ENST00000238044.3:c.305C>T p.Thr102Ile p.T102I ENST00000238044 NM_032411.2 102 aCc/aTc 0 -C2orf44 UCSF GRCh37 2 24260791 24260791 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 76 151 0 ENST00000295148.4:c.1574C>T p.Pro525Leu p.P525L ENST00000295148 NM_025203.2 525 cCc/cTc 0 -C2orf67 UCSF GRCh37 2 210896241 210896241 + stop_gained Nonsense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 194 151 283 1 ENST00000281772.9:c.2059G>T p.Gly687Ter p.G687* ENST00000281772 NM_152519.2 687 Gga/Tga 0 -C2orf68 UCSF GRCh37 2 85839061 85839061 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 13 23 0 ENST00000306336.5:c.47G>A p.Gly16Glu p.G16E ENST00000306336 NM_001013649.3 16 gGg/gAg 0 -C3orf25 UCSF GRCh37 3 129140431 129140431 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 74 197 0 ENST00000326085.3:c.265G>A p.Val89Ile p.V89I ENST00000326085 89 Gtt/Att 0 -C3orf30 UCSF GRCh37 3 118865880 118865880 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 122 85 163 0 ENST00000295622.1:c.844G>A p.Ala282Thr p.A282T ENST00000295622 NM_152539.2 282 Gct/Act 0 -C3orf30 UCSF GRCh37 3 118865621 118865621 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 131 243 0 ENST00000295622.1:c.585C>T p.Asp195= p.D195= ENST00000295622 NM_152539.2 195 gaC/gaT 0 -C4orf41 UCSF GRCh37 4 184628085 184628085 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 55 146 0 ENST00000334690.6:c.3181C>T p.Leu1061Phe p.L1061F ENST00000334690 NM_021942.5 1061 Ctc/Ttc 0 -C4orf46 UCSF GRCh37 4 159590829 159590829 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 75 146 0 ENST00000379205.4:c.278G>A p.Arg93His p.R93H ENST00000379205 NM_001008393.3 93 cGt/cAt 0 -C5 UCSF GRCh37 9 123742447 123742447 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 164 162 0 ENST00000223642.1:c.3572C>T p.Ser1191Phe p.S1191F ENST00000223642 NM_001735.2 1191 tCt/tTt 0 -C5AR1 UCSF GRCh37 19 47823952 47823952 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 66 176 0 ENST00000355085.3:c.918C>T p.Gly306= p.G306= ENST00000355085 NM_001736.3 306 ggC/ggT 0 -C5orf22 UCSF GRCh37 5 31538470 31538470 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 139 59 191 0 ENST00000325366.9:c.481C>T p.Pro161Ser p.P161S ENST00000325366 NM_018356.2 161 Cct/Tct 0 -RIMOC1 UCSF GRCh37 5 41917241 41917241 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 130 67 188 0 ENST00000381647.2:c.725C>T p.Ala242Val p.A242V ENST00000381647 NM_175921.4 242 gCg/gTg 0 -C6orf132 UCSF GRCh37 6 42071557 42071557 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 34 22 55 0 ENST00000341865.4:c.3509G>A p.Gly1170Glu p.G1170E ENST00000341865 NM_001164446.1 1170 gGg/gAg 0 -C6orf165 UCSF GRCh37 6 88126492 88126492 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 51 125 0 ENST00000369562.4:c.578G>A p.Gly193Glu p.G193E ENST00000369562 NM_001031743.2 193 gGa/gAa 0 -C6orf174 UCSF GRCh37 6 127796620 127796620 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 50 154 0 ENST00000481848.2:c.2551G>A p.Asp851Asn p.D851N ENST00000481848 851 Gac/Aac 0 -C6orf211 UCSF GRCh37 6 151785748 151785748 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 27 67 0 ENST00000367294.3:c.553C>T p.Leu185= p.L185= ENST00000367294 NM_024573.1 185 Ctg/Ttg 0 -LINC03040 UCSF GRCh37 6 43970685 43970685 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 29 54 0 ENST00000336600.5:c.551C>T p.Pro184Leu p.P184L ENST00000336600 NM_001171992.1 184 cCc/cTc 0 -C6orf47 UCSF GRCh37 6 31627559 31627559 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 56 108 0 ENST00000375911.1:c.166C>T p.Pro56Ser p.P56S ENST00000375911 NM_021184.3 56 Ccc/Tcc 0 -C6orf70 UCSF GRCh37 6 170168254 170168254 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 47 116 0 ENST00000366773.3:c.1046G>A p.Gly349Glu p.G349E ENST00000366773 NM_018341.2 349 gGa/gAa 0 -C6orf97 UCSF GRCh37 6 151865852 151865852 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 79 205 0 ENST00000239374.7:c.588+1G>A p.X196_splice ENST00000239374 NM_025059.3 0 -C7orf47 UCSF GRCh37 7 100033560 100033560 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 11 7 22 0 ENST00000292330.2:c.362G>A p.Gly121Glu p.G121E ENST00000292330 NM_145030.2 121 gGg/gAg 0 -C7orf65 UCSF GRCh37 7 47698652 47698652 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 60 159 0 ENST00000408988.2:c.282C>T p.Thr94= p.T94= ENST00000408988 NM_001123065.1 94 acC/acT 0 -C8A UCSF GRCh37 1 57351790 57351790 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 85 210 0 ENST00000361249.3:c.1046G>A p.Gly349Asp p.G349D ENST00000361249 NM_000562.2 349 gGc/gAc 0 -CFAP418 UCSF GRCh37 8 96259901 96259901 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 111 61 155 0 ENST00000286688.5:c.568G>A p.Glu190Lys p.E190K ENST00000286688 NM_177965.3 190 Gaa/Aaa 0 -C8orf40 UCSF GRCh37 8 42407718 42407718 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 122 93 224 0 ENST00000414154.2:c.291C>T p.Asn97= p.N97= ENST00000414154 NM_138436.3 97 aaC/aaT 0 -C9orf172 UCSF GRCh37 9 139739664 139739664 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 12 27 0 ENST00000436881.1:c.798G>A p.Glu266= p.E266= ENST00000436881 NM_001080482.2 266 gaG/gaA 0 -C9orf93 UCSF GRCh37 9 15571644 15571644 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 24 105 215 0 ENST00000380701.3:c.64G>A p.Val22Ile p.V22I ENST00000380701 NM_173550.2 22 Gta/Ata 0 -CA14 UCSF GRCh37 1 150234659 150234659 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 144 102 195 0 ENST00000369111.4:c.359G>A p.Gly120Glu p.G120E ENST00000369111 NM_012113.1 120 gGg/gAg 0 -CA4 UCSF GRCh37 17 58235074 58235074 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 69 179 0 ENST00000300900.4:c.438G>A p.Glu146= p.E146= ENST00000300900 NM_000717.3 146 gaG/gaA 0 -CA5A UCSF GRCh37 16 87925507 87925507 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 19 55 0 ENST00000309893.2:c.672C>T p.Cys224= p.C224= ENST00000309893 NM_001739.1 224 tgC/tgT 0 -CABS1 UCSF GRCh37 4 71201071 71201072 + frameshift_variant Frame_Shift_Del DEL CA CA G NOVEL P18_Rec Untested WXS Illumina HiSeq 46 0 ENST00000273936.5:c.315_316delinsG p.Ile106Ter p.I106* ENST00000273936 NM_033122.3 105 tcCAta/tcGta 0 -CABYR UCSF GRCh37 18 21736260 21736260 + synonymous_variant,NMD_transcript_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 65 159 0 ENST00000463087.1:c.795G>A p.Gln265= p.Q265= ENST00000463087 265 caG/caA 0 -CACHD1 UCSF GRCh37 1 65131847 65131847 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 77 93 0 ENST00000290039.5:c.2231C>T p.Ser744Phe p.S744F ENST00000290039 NM_020925.2 744 tCc/tTc 0 -CACNA1A UCSF GRCh37 19 13470554 13470554 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 59 110 0 ENST00000360228.5:c.844C>T p.Pro282Ser p.P282S ENST00000360228 NM_001127222.1 282 Ccc/Tcc 0 -CACNA1D UCSF GRCh37 3 53707796 53707796 + intron_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 65 168 0 ENST00000350061.5:c.1220+643C>T *407* ENST00000350061 NM_001128840.2 0 -CACNA1E UCSF GRCh37 1 181762842 181762842 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 119 74 168 0 ENST00000367573.2:c.5940C>T p.Asn1980= p.N1980= ENST00000367573 NM_001205293.1 1980 aaC/aaT 0 -CACNA1F UCSF GRCh37 X 49088147 49088147 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 67 75 0 ENST00000376265.2:c.268G>A p.Glu90Lys p.E90K ENST00000376265 NM_005183.2 90 Gag/Aag 0 -CACNA1I UCSF GRCh37 22 40066139 40066139 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 95 221 0 ENST00000402142.3:c.4291G>A p.Val1431Met p.V1431M ENST00000402142 NM_021096.3 1431 Gtg/Atg 0 -CACNA1I UCSF GRCh37 22 40015336 40015336 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 48 121 0 ENST00000402142.3:c.504C>T p.Asp168= p.D168= ENST00000402142 NM_021096.3 168 gaC/gaT 0 -CACNA1S UCSF GRCh37 1 201018178 201018178 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 33 55 0 ENST00000362061.3:c.4291C>T p.Pro1431Ser p.P1431S ENST00000362061 NM_000069.2 1431 Ccc/Tcc 0 -CACNA1S UCSF GRCh37 1 201030429 201030429 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 59 98 0 ENST00000362061.3:c.3221C>T p.Thr1074Ile p.T1074I ENST00000362061 NM_000069.2 1074 aCt/aTt 0 -CACNA2D2 UCSF GRCh37 3 50402395 50402395 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 14 45 0 ENST00000479441.1:c.3236G>A p.Gly1079Asp p.G1079D ENST00000479441 1079 gGc/gAc 0 -CACNA2D2 UCSF GRCh37 3 50404897 50404897 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 29 73 0 ENST00000479441.1:c.2350C>T p.Pro784Ser p.P784S ENST00000479441 784 Ccc/Tcc 0 -CACNB1 UCSF GRCh37 17 37331830 37331830 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 48 121 0 ENST00000394303.3:c.1413G>A p.Glu471= p.E471= ENST00000394303 NM_000723.4 471 gaG/gaA 0 -CACNG1 UCSF GRCh37 17 65040959 65040959 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 30 71 0 ENST00000226021.3:c.183C>T p.Ile61= p.I61= ENST00000226021 NM_000727.3 61 atC/atT 0 -CADPS UCSF GRCh37 3 62478043 62478043 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 209 165 297 0 ENST00000383710.4:c.2806G>A p.Ala936Thr p.A936T ENST00000383710 NM_003716.3 936 Gcc/Acc 0 -CADPS2 UCSF GRCh37 7 121960334 121960334 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 208 173 339 0 ENST00000449022.2:c.3776C>T p.Thr1259Ile p.T1259I ENST00000449022 NM_017954.10 1259 aCt/aTt 0 -CADPS2 UCSF GRCh37 7 122377059 122377059 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 117 86 197 0 ENST00000449022.2:c.403C>T p.Gln135Ter p.Q135* ENST00000449022 NM_017954.10 135 Caa/Taa 0 -CALCOCO1 UCSF GRCh37 12 54107963 54107963 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 6 32 91 1 ENST00000550804.1:c.1545G>A p.Trp515Ter p.W515* ENST00000550804 515 tgG/tgA 0 -CALR3 UCSF GRCh37 19 16593283 16593283 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 54 133 0 ENST00000269881.3:c.896C>T p.Ala299Val p.A299V ENST00000269881 NM_145046.4 299 gCc/gTc 0 -CAMK1G UCSF GRCh37 1 209783195 209783195 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 58 117 0 ENST00000009105.1:c.749-1G>A p.X250_splice ENST00000009105 0 -CAMK2G UCSF GRCh37 10 75612997 75612997 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 41 98 0 ENST00000322680.3:c.228C>T p.Leu76= p.L76= ENST00000322680 NM_172170.4 76 ctC/ctT 0 -CAMTA1 UCSF GRCh37 1 7723491 7723491 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 71 142 0 ENST00000303635.7:c.884G>A p.Gly295Glu p.G295E ENST00000303635 NM_015215.2 295 gGg/gAg 0 -CAPN11 UCSF GRCh37 6 44140111 44140111 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 18 36 0 ENST00000398776.1:c.482G>A p.Arg161Lys p.R161K ENST00000398776 NM_007058.3 161 aGa/aAa 0 -CAPN12 UCSF GRCh37 19 39226149 39226149 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 32 14 47 0 ENST00000328867.4:c.1619C>T p.Ser540Phe p.S540F ENST00000328867 NM_144691.3 540 tCt/tTt 0 -CAPNS1 UCSF GRCh37 19 36633571 36633571 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 100 179 0 ENST00000246533.3:c.261C>T p.Tyr87= p.Y87= ENST00000246533 NM_001749.2 87 taC/taT 0 -CAPZA1 UCSF GRCh37 1 113189886 113189886 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 96 228 0 ENST00000263168.3:c.94G>A p.Val32Ile p.V32I ENST00000263168 NM_006135.2 32 Gta/Ata 0 -CARD11 UCSF GRCh37 7 2977541 2977541 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 39 76 0 ENST00000396946.4:c.1143G>A p.Gln381= p.Q381= ENST00000396946 NM_032415.4 381 caG/caA 0 -CARD16 UCSF GRCh37 11 104912389 104912389 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 96 221 0 ENST00000375706.2:c.332G>A p.Arg111Lys p.R111K ENST00000375706 NM_001017534.1 111 aGa/aAa 0 -CARM1 UCSF GRCh37 19 11024706 11024706 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 15 47 0 ENST00000327064.4:c.823G>A p.Ala275Thr p.A275T ENST00000327064 NM_199141.1 275 Gcc/Acc 0 -CARNS1 UCSF GRCh37 11 67192040 67192040 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 18 10 26 0 ENST00000307823.3:c.2452C>T p.Pro818Ser p.P818S ENST00000307823 NM_020811.1 818 Cct/Tct 0 -CASP5 UCSF GRCh37 11 104871090 104871090 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 171 102 235 0 ENST00000260315.3:c.850G>A p.Asp284Asn p.D284N ENST00000260315 284 Gat/Aat 0 -CASP8AP2 UCSF GRCh37 6 90571890 90571890 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 131 89 223 0 ENST00000551025.1:n.1899G>A *633* ENST00000551025 0 -CASS4 UCSF GRCh37 20 55012249 55012249 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 86 168 0 ENST00000360314.3:c.66C>T p.Asn22= p.N22= ENST00000360314 NM_001164116.1 22 aaC/aaT 0 -CASZ1 UCSF GRCh37 1 10720317 10720317 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 31 71 0 ENST00000377022.3:c.782C>T p.Thr261Ile p.T261I ENST00000377022 NM_001079843.2 261 aCc/aTc 0 -CATSPER2 UCSF GRCh37 15 43924482 43924482 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 72 133 1 ENST00000321596.5:c.1476C>T p.Pro492= p.P492= ENST00000321596 492 ccC/ccT 0 -CCBL2 UCSF GRCh37 1 89414918 89414918 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 68 153 0 ENST00000260508.4:c.997G>A p.Asp333Asn p.D333N ENST00000260508 NM_001008661.2 333 Gat/Aat 0 -CCBP2 UCSF GRCh37 3 42906810 42906810 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 176 98 245 0 ENST00000273145.2:c.816G>A p.Leu272= p.L272= ENST00000273145 272 ctG/ctA 0 -CCDC102B UCSF GRCh37 18 66504265 66504265 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 154 127 250 0 ENST00000319445.6:c.265G>A p.Glu89Lys p.E89K ENST00000319445 NM_001093729.1 89 Gaa/Aaa 0 -CCDC107 UCSF GRCh37 9 35661073 35661073 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 66 129 0 ENST00000426546.2:c.741G>A p.Arg247= p.R247= ENST00000426546 NM_001195201.1 247 cgG/cgA 0 -CCDC129 UCSF GRCh37 7 31691601 31691601 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 78 164 0 ENST00000407970.3:c.2760G>A p.Gln920= p.Q920= ENST00000407970 NM_194300.3 920 caG/caA 0 -CCDC132 UCSF GRCh37 7 92963441 92963441 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 159 104 214 0 ENST00000305866.5:c.1990G>A p.Gly664Arg p.G664R ENST00000305866 NM_017667.3 664 Gga/Aga 0 -CCDC134 UCSF GRCh37 22 42209287 42209287 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 62 163 0 ENST00000255784.5:c.330G>A p.Glu110= p.E110= ENST00000255784 NM_024821.2 110 gaG/gaA 0 -CCDC135 UCSF GRCh37 16 57756942 57756942 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 82 156 0 ENST00000360716.3:c.1437G>A p.Trp479Ter p.W479* ENST00000360716 479 tgG/tgA 0 -CCDC149 UCSF GRCh37 4 24810064 24810064 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 47 85 0 ENST00000504487.1:c.1537G>A p.Asp513Asn p.D513N ENST00000504487 NM_001130726.2 513 Gac/Aac 0 -CCDC36 UCSF GRCh37 3 49294536 49294536 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 116 255 0 ENST00000296449.5:c.1606C>T p.Leu536Phe p.L536F ENST00000296449 NM_178173.3 536 Ctc/Ttc 0 -CCDC57 UCSF GRCh37 17 80141668 80141668 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 87 155 0 ENST00000389641.4:c.1193C>T p.Ser398Phe p.S398F ENST00000389641 398 tCc/tTc 0 -CCDC58 UCSF GRCh37 3 122078754 122078754 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 65 161 0 ENST00000291458.5:c.397C>T p.Arg133Cys p.R133C ENST00000291458 NM_001017928.2 133 Cgc/Tgc 0 -CCDC75 UCSF GRCh37 2 37316927 37316927 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 18 78 185 0 ENST00000608836.1:c.192G>A p.Lys64= p.K64= ENST00000608836 64 aaG/aaA 0 -CCDC77 UCSF GRCh37 12 550148 550148 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 58 161 0 ENST00000239830.4:c.1306C>T p.Gln436Ter p.Q436* ENST00000239830 NM_032358.3 436 Caa/Taa 0 -CCDC83 UCSF GRCh37 11 85630413 85630413 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 87 187 0 ENST00000342404.3:c.1102C>T p.Leu368= p.L368= ENST00000342404 NM_001286159.1 368 Ctg/Ttg 0 -CCDC91 UCSF GRCh37 12 28459819 28459819 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 100 79 161 0 ENST00000381259.1:c.412A>G p.Ile138Val p.I138V ENST00000381259 NM_018318.3 138 Att/Gtt 0 -CCNDBP1 UCSF GRCh37 15 43483770 43483770 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 67 150 0 ENST00000300213.4:c.757G>A p.Ala253Thr p.A253T ENST00000300213 NM_012142.4 253 Gcc/Acc 0 -CCNE1 UCSF GRCh37 19 30303917 30303917 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 32 76 0 ENST00000262643.3:c.153G>A p.Arg51= p.R51= ENST00000262643 NM_001238.2 51 agG/agA 0 -CCNH UCSF GRCh37 5 86700661 86700661 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 33 74 0 ENST00000256897.4:c.689G>A p.Ser230Asn p.S230N ENST00000256897 NM_001239.3 230 aGt/aAt 0 -CCNK UCSF GRCh37 14 99977096 99977096 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 8 21 0 ENST00000389879.5:c.1720G>A p.Gly574Arg p.G574R ENST00000389879 NM_001099402.1 574 Ggg/Agg 0 -CCNT1 UCSF GRCh37 12 49089613 49089613 + splice_acceptor_variant Splice_Site SNP C C T snp132_rs11833923 P18_Rec Untested WXS Illumina HiSeq 19 47 133 0 ENST00000261900.3:c.707-1G>A p.X236_splice ENST00000261900 NM_001240.3 0 -CCNT2 UCSF GRCh37 2 135696633 135696633 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 128 76 190 0 ENST00000264157.5:c.430+1G>A p.X144_splice ENST00000264157 NM_058241.2 0 -CCR8 UCSF GRCh37 3 39374006 39374006 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 169 117 271 0 ENST00000326306.4:c.184G>A p.Val62Ile p.V62I ENST00000326306 NM_005201.3 62 Gtc/Atc 0 -CCRL1 UCSF GRCh37 3 132320132 132320132 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 477 84 638 0 ENST00000249887.2:c.891C>T p.Cys297= p.C297= ENST00000249887 NM_016557.3 297 tgC/tgT 0 -CCT7 UCSF GRCh37 2 73466919 73466919 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 102 216 0 ENST00000258091.5:c.155G>A p.Gly52Asp p.G52D ENST00000258091 NM_006429.3 52 gGc/gAc 0 -CCT7 UCSF GRCh37 2 73471675 73471675 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 77 173 0 ENST00000258091.5:c.450G>A p.Glu150= p.E150= ENST00000258091 NM_006429.3 150 gaG/gaA 0 -CCT8L2 UCSF GRCh37 22 17073014 17073014 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 14 62 149 0 ENST00000359963.3:c.427G>A p.Val143Ile p.V143I ENST00000359963 NM_014406.4 143 Gtc/Atc 0 -CD101 UCSF GRCh37 1 117559965 117559965 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 123 76 173 0 ENST00000256652.4:c.1482C>T p.Phe494= p.F494= ENST00000256652 NM_004258.5 494 ttC/ttT 0 -CD207 UCSF GRCh37 2 71062662 71062662 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 52 110 0 ENST00000410009.3:c.150G>A p.Thr50= p.T50= ENST00000410009 NM_015717.3 50 acG/acA 0 -CD2BP2 UCSF GRCh37 16 30365523 30365523 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 95 220 0 ENST00000305596.3:c.199G>A p.Ala67Thr p.A67T ENST00000305596 NM_006110.2 67 Gcc/Acc 0 -CD300E UCSF GRCh37 17 72608796 72608796 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 43 96 0 ENST00000392619.1:c.695G>A p.Arg232Lys p.R232K ENST00000392619 NM_181449.2 232 aGa/aAa 0 -CD300LD UCSF GRCh37 17 72584665 72584665 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 112 75 166 0 ENST00000375352.1:c.364G>A p.Val122Met p.V122M ENST00000375352 NM_001115152.1 122 Gtg/Atg 0 -CD40 UCSF GRCh37 20 44750474 44750474 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 74 247 0 ENST00000372285.3:c.67C>T p.Pro23Ser p.P23S ENST00000372285 NM_001250.4 23 Ccc/Tcc 0 -CD5 UCSF GRCh37 11 60889194 60889194 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 38 86 0 ENST00000347785.3:c.917C>T p.Ala306Val p.A306V ENST00000347785 NM_014207.3 306 gCc/gTc 0 -CD6 UCSF GRCh37 11 60786787 60786787 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 11 56 0 ENST00000313421.7:c.2004C>T p.Ala668= p.A668= ENST00000313421 NM_006725.4 668 gcC/gcT 0 -CD79B UCSF GRCh37 17 62007564 62007564 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 51 107 0 ENST00000006750.3:c.300G>A p.Gln100= p.Q100= ENST00000006750 NM_021602.2 100 caG/caA 0 -CD83 UCSF GRCh37 6 14118245 14118245 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 36 13 56 0 ENST00000379153.3:c.102C>T p.Pro34= p.P34= ENST00000379153 NM_001040280.1 34 ccC/ccT 0 -CD86 UCSF GRCh37 3 121836932 121836932 + synonymous_variant Silent SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 52 128 0 ENST00000330540.2:c.885C>A p.Thr295= p.T295= ENST00000330540 NM_175862.4 295 acC/acA 0 -CD8A UCSF GRCh37 2 87013087 87013087 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 78 196 0 ENST00000283635.3:c.664G>A p.Val222Ile p.V222I ENST00000283635 NM_001768.6 222 Gtc/Atc 0 -CDADC1 UCSF GRCh37 13 49833592 49833592 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 161 77 231 0 ENST00000251108.6:c.363G>A p.Arg121= p.R121= ENST00000251108 NM_001193478.1 121 agG/agA 0 -CDADC1 UCSF GRCh37 13 49841626 49841626 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 49 125 0 ENST00000251108.6:c.431C>T p.Ala144Val p.A144V ENST00000251108 NM_001193478.1 144 gCt/gTt 0 -CDC16 UCSF GRCh37 13 115024859 115024859 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 43 141 0 ENST00000356221.3:c.1300G>A p.Ala434Thr p.A434T ENST00000356221 434 Gca/Aca 0 -CDC23 UCSF GRCh37 5 137534175 137534175 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 49 147 0 ENST00000394886.2:c.870G>A p.Arg290= p.R290= ENST00000394886 NM_004661.3 290 agG/agA 0 -CDC34 UCSF GRCh37 19 537137 537137 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 27 69 0 ENST00000215574.4:c.487G>A p.Asp163Asn p.D163N ENST00000215574 NM_004359.1 163 Gac/Aac 0 -CDC7 UCSF GRCh37 1 91973874 91973874 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 38 66 0 ENST00000234626.6:c.255G>A p.Glu85= p.E85= ENST00000234626 NM_001134419.1 85 gaG/gaA 0 -CDC7 UCSF GRCh37 1 91977338 91977338 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 68 139 0 ENST00000234626.6:c.430G>A p.Asp144Asn p.D144N ENST00000234626 NM_001134419.1 144 Gac/Aac 0 -CDCA4 UCSF GRCh37 14 105478160 105478160 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 65 170 0 ENST00000336219.3:c.107C>T p.Ser36Leu p.S36L ENST00000336219 NM_017955.3 36 tCg/tTg 0 -CDH2 UCSF GRCh37 18 25583066 25583066 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 73 183 0 ENST00000269141.3:c.915G>A p.Arg305= p.R305= ENST00000269141 NM_001792.3 305 agG/agA 0 -CDH2 UCSF GRCh37 18 25570165 25570165 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 69 203 0 ENST00000269141.3:c.1494C>T p.Ala498= p.A498= ENST00000269141 NM_001792.3 498 gcC/gcT 0 -CDH23 UCSF GRCh37 10 73556947 73556947 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 46 113 0 ENST00000224721.6:c.6814C>T p.Leu2272= p.L2272= ENST00000224721 NM_022124.5 2272 Cta/Tta 0 -CDH23 UCSF GRCh37 10 73437387 73437387 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 39 92 0 ENST00000224721.6:c.1704G>A p.Lys568= p.K568= ENST00000224721 NM_022124.5 568 aaG/aaA 0 -CDH23 UCSF GRCh37 10 73498296 73498296 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 128 106 178 0 ENST00000224721.6:c.4266G>A p.Arg1422= p.R1422= ENST00000224721 NM_022124.5 1422 cgG/cgA 0 -CDIPT UCSF GRCh37 16 29872497 29872497 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 49 136 0 ENST00000219789.6:c.262C>T p.Pro88Ser p.P88S ENST00000219789 NM_006319.3 88 Cct/Tct 0 -CDK12 UCSF GRCh37 17 37676277 37676277 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 140 89 203 0 ENST00000447079.4:c.3032C>T p.Ala1011Val p.A1011V ENST00000447079 NM_015083.1 1011 gCt/gTt 0 -CDK5 UCSF GRCh37 7 150754902 150754902 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 29 96 0 ENST00000485972.1:c.34G>A p.Glu12Lys p.E12K ENST00000485972 NM_004935.3 12 Gaa/Aaa 0 -FBXW10B UCSF GRCh37 17 15522780 15522780 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 235 133 468 0 ENST00000395906.3:c.47G>A p.Cys16Tyr p.C16Y ENST00000395906 NM_006382.3 16 tGt/tAt 0 -FBXW10B UCSF GRCh37 17 15496780 15496780 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Rec Untested WXS Illumina HiSeq 228 170 349 0 ENST00000395906.3:c.1877T>A p.Leu626His p.L626H ENST00000395906 NM_006382.3 626 cTc/cAc 0 -CEACAM20 UCSF GRCh37 19 45021256 45021256 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 53 146 0 ENST00000454753.1:n.1339G>A *447* ENST00000454753 0 -CEACAM21 UCSF GRCh37 19 42092212 42092212 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 44 113 0 ENST00000401445.2:c.870C>T p.Ser290= p.S290= ENST00000401445 290 agC/agT 0 -CELSR3 UCSF GRCh37 3 48684203 48684203 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 27 59 0 ENST00000164024.4:c.7288G>A p.Gly2430Ser p.G2430S ENST00000164024 NM_001407.2 2430 Ggt/Agt 0 -CELSR3 UCSF GRCh37 3 48697265 48697265 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 63 142 0 ENST00000164024.4:c.2803G>A p.Asp935Asn p.D935N ENST00000164024 NM_001407.2 935 Gac/Aac 0 -CELSR3 UCSF GRCh37 3 48698563 48698563 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 16 18 37 0 ENST00000164024.4:c.1505A>G p.Asp502Gly p.D502G ENST00000164024 NM_001407.2 502 gAc/gGc 0 -CEMP1 UCSF GRCh37 16 2580808 2580808 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 19 45 0 ENST00000567119.1:c.267G>A p.Gly89= p.G89= ENST00000567119 NM_001048212.3 89 ggG/ggA 0 -CENPB UCSF GRCh37 20 3766747 3766747 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 26 37 0 ENST00000379751.4:c.384G>A p.Arg128= p.R128= ENST00000379751 NM_001810.5 128 cgG/cgA 0 -CENPE UCSF GRCh37 4 104066777 104066777 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 115 72 172 0 ENST00000265148.3:c.4475C>T p.Thr1492Ile p.T1492I ENST00000265148 NM_001813.2 1492 aCt/aTt 0 -CENPF UCSF GRCh37 1 214814907 214814907 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 127 81 199 0 ENST00000366955.3:c.3226G>A p.Glu1076Lys p.E1076K ENST00000366955 NM_016343.3 1076 Gaa/Aaa 0 -CENPT UCSF GRCh37 16 67862212 67862212 + synonymous_variant Silent SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 34 38 90 0 ENST00000440851.2:c.1644C>T p.Ile548= p.I548= ENST00000440851 548 atC/atT 0 -CEP112 UCSF GRCh37 17 64092721 64092721 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 41 97 0 ENST00000392769.2:c.672G>A p.Lys224= p.K224= ENST00000392769 NM_145036.3 224 aaG/aaA 0 -CEP135 UCSF GRCh37 4 56876058 56876058 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 115 104 176 0 ENST00000257287.4:c.2494A>G p.Arg832Gly p.R832G ENST00000257287 NM_025009.4 832 Aga/Gga 0 -CEP170 UCSF GRCh37 1 243327806 243327806 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 77 316 0 ENST00000366542.1:c.3456G>A p.Gln1152= p.Q1152= ENST00000366542 NM_014812.2 1152 caG/caA 0 -CEP192 UCSF GRCh37 18 13096183 13096183 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 65 145 0 ENST00000506447.1:c.6434G>A p.Cys2145Tyr p.C2145Y ENST00000506447 NM_032142.3 2145 tGt/tAt 0 -CEP290 UCSF GRCh37 12 88500814 88500814 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 64 155 0 ENST00000552810.1:c.2545G>A p.Asp849Asn p.D849N ENST00000552810 NM_025114.3 849 Gat/Aat 0 -CEP78 UCSF GRCh37 9 80881440 80881440 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 59 144 0 ENST00000424347.2:c.1880G>A p.Gly627Glu p.G627E ENST00000424347 627 gGa/gAa 0 -CES3 UCSF GRCh37 16 67006937 67006937 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 52 106 0 ENST00000303334.4:c.1701C>T p.Ala567= p.A567= ENST00000303334 NM_024922.5 567 gcC/gcT 0 -CFHR3 UCSF GRCh37 1 196749019 196749019 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 68 137 0 ENST00000367425.4:c.346C>T p.Pro116Ser p.P116S ENST00000367425 NM_021023.5 116 Cct/Tct 0 -CHAF1A UCSF GRCh37 19 4423333 4423333 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 102 193 0 ENST00000301280.5:c.1249G>A p.Ala417Thr p.A417T ENST00000301280 NM_005483.2 417 Gct/Act 0 -CHAT UCSF GRCh37 10 50873074 50873074 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 69 156 0 ENST00000337653.2:c.2229C>T p.Ser743= p.S743= ENST00000337653 NM_020549.4 743 agC/agT 0 -CHD1L UCSF GRCh37 1 146765378 146765378 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 147 359 0 ENST00000369258.4:c.2478G>A p.Lys826= p.K826= ENST00000369258 NM_001256336.1 826 aaG/aaA 0 -CHD6 UCSF GRCh37 20 40065937 40065937 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 65 138 0 ENST00000373233.3:c.4045G>A p.Val1349Ile p.V1349I ENST00000373233 NM_032221.4 1349 Gta/Ata 0 -CHD6 UCSF GRCh37 20 40127937 40127937 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 22 55 0 ENST00000373233.3:c.913G>A p.Glu305Lys p.E305K ENST00000373233 NM_032221.4 305 Gag/Aag 0 -CHD9 UCSF GRCh37 16 53308204 53308204 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 169 128 237 0 ENST00000398510.3:c.4957G>A p.Val1653Ile p.V1653I ENST00000398510 1653 Gtt/Att 0 -CHI3L2 UCSF GRCh37 1 111781529 111781529 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 81 185 0 ENST00000369748.4:c.893C>T p.Ser298Phe p.S298F ENST00000369748 NM_004000.2 298 tCt/tTt 0 -CHIT1 UCSF GRCh37 1 203192374 203192374 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 79 175 0 ENST00000367229.1:c.494C>T p.Ala165Val p.A165V ENST00000367229 NM_003465.2 165 gCc/gTc 0 -CHPF2 UCSF GRCh37 7 150934555 150934555 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 49 111 0 ENST00000035307.2:c.1107C>T p.Arg369= p.R369= ENST00000035307 NM_019015.1 369 cgC/cgT 0 -CHRM1 UCSF GRCh37 11 62677564 62677564 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 59 143 0 ENST00000306960.3:c.1009G>A p.Ala337Thr p.A337T ENST00000306960 NM_000738.2 337 Gct/Act 0 -CHRM2 UCSF GRCh37 7 136700241 136700241 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 65 113 0 ENST00000320658.5:c.629C>T p.Ser210Phe p.S210F ENST00000320658 NM_001006632.1 210 tCc/tTc 0 -CHST11 UCSF GRCh37 12 105150931 105150931 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 45 114 0 ENST00000303694.5:c.409G>A p.Val137Ile p.V137I ENST00000303694 NM_018413.5 137 Gtc/Atc 0 -CHST12 UCSF GRCh37 7 2472470 2472470 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 55 95 0 ENST00000258711.6:c.196G>A p.Val66Ile p.V66I ENST00000258711 NM_001243794.1 66 Gtc/Atc 0 -CHST13 UCSF GRCh37 3 126260857 126260857 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.014,1000g2011may_all_0.0310,snp132_rs58576050 P18_Rec Untested WXS Illumina HiSeq 13 15 25 0 ENST00000319340.2:c.462C>T p.Asp154= p.D154= ENST00000319340 NM_152889.2 154 gaC/gaT 0 -CHST4 UCSF GRCh37 16 71570604 71570604 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 93 171 0 ENST00000338482.5:c.24G>A p.Lys8= p.K8= ENST00000338482 8 aaG/aaA 0 -CHST5 UCSF GRCh37 16 75564161 75564161 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 17 28 0 ENST00000336257.3:c.122C>T p.Thr41Ile p.T41I ENST00000336257 NM_024533.4 41 aCc/aTc 0 -CIT UCSF GRCh37 12 120295477 120295477 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 156 103 248 0 ENST00000261833.7:c.264G>A p.Gln88= p.Q88= ENST00000261833 NM_007174.2 88 caG/caA 0 -CITED2 UCSF GRCh37 6 139695002 139695002 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 15 12 34 0 ENST00000367651.2:c.80G>A p.Arg27His p.R27H ENST00000367651 NM_006079.4 27 cGc/cAc 0 -CKAP2 UCSF GRCh37 13 53039430 53039430 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 76 197 0 ENST00000378037.5:c.1309G>A p.Gly437Arg p.G437R ENST00000378037 NM_018204.3 437 Gga/Aga 0 -CKAP5 UCSF GRCh37 11 46819722 46819722 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 144 109 202 0 ENST00000529230.1:c.1084G>A p.Val362Ile p.V362I ENST00000529230 362 Gtt/Att 0 -CKMT2 UCSF GRCh37 5 80555039 80555039 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 45 110 0 ENST00000254035.4:c.980C>T p.Ala327Val p.A327V ENST00000254035 327 gCt/gTt 0 -CLCN1 UCSF GRCh37 7 143043243 143043243 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 41 85 0 ENST00000343257.2:c.2183C>T p.Ser728Phe p.S728F ENST00000343257 NM_000083.2 728 tCc/tTc 0 -CLCN2 UCSF GRCh37 3 184076576 184076576 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 22 39 0 ENST00000265593.4:c.246C>T p.Phe82= p.F82= ENST00000265593 NM_004366.5 82 ttC/ttT 0 -CLCN3 UCSF GRCh37 4 170613362 170613362 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 159 136 274 0 ENST00000513761.1:c.827G>A p.Gly276Asp p.G276D ENST00000513761 NM_001829.3 276 gGt/gAt 0 -CLCN7 UCSF GRCh37 16 1500513 1500513 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 5 20 0 ENST00000382745.4:c.1602C>T p.Tyr534= p.Y534= ENST00000382745 NM_001287.5 534 taC/taT 0 -CLDN1 UCSF GRCh37 3 190030796 190030796 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 188 132 269 0 ENST00000295522.3:c.253G>A p.Val85Met p.V85M ENST00000295522 NM_021101.4 85 Gtg/Atg 0 -CLEC9A UCSF GRCh37 12 10217414 10217414 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 76 165 0 ENST00000355819.1:c.555C>T p.Arg185= p.R185= ENST00000355819 NM_207345.2 185 cgC/cgT 0 -CLINT1 UCSF GRCh37 5 157221923 157221923 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 31 91 0 ENST00000411809.2:c.1070G>A p.Gly357Asp p.G357D ENST00000411809 NM_014666.3 357 gGc/gAc 0 -CLIP1 UCSF GRCh37 12 122862435 122862435 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 200 147 277 0 ENST00000540338.1:c.158A>G p.Glu53Gly p.E53G ENST00000540338 53 gAa/gGa 0 -CLMP UCSF GRCh37 11 122968596 122968596 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 86 167 0 ENST00000448775.2:c.93C>T p.Val31= p.V31= ENST00000448775 NM_024769.2 31 gtC/gtT 0 -CLSTN2 UCSF GRCh37 3 140280982 140280982 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 52 136 0 ENST00000458420.3:c.2044C>T p.Pro682Ser p.P682S ENST00000458420 NM_022131.2 682 Ccc/Tcc 0 -CLVS2 UCSF GRCh37 6 123318973 123318973 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 52 162 0 ENST00000275162.5:c.51C>T p.Arg17= p.R17= ENST00000275162 NM_001010852.3 17 cgC/cgT 0 -CMTM4 UCSF GRCh37 16 66651192 66651192 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 48 68 0 ENST00000330687.4:c.693G>A p.Trp231Ter p.W231* ENST00000330687 NM_181521.2 231 tgG/tgA 0 -CMYA5 UCSF GRCh37 5 79035216 79035216 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 62 141 0 ENST00000446378.2:c.10628G>A p.Ser3543Asn p.S3543N ENST00000446378 NM_153610.3 3543 aGt/aAt 0 -CMYA5 UCSF GRCh37 5 79041083 79041083 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 129 104 216 0 ENST00000446378.2:c.10773G>A p.Gln3591= p.Q3591= ENST00000446378 NM_153610.3 3591 caG/caA 0 -CNGB1 UCSF GRCh37 16 57954336 57954336 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 52 129 0 ENST00000251102.8:c.1756C>T p.Leu586Phe p.L586F ENST00000251102 NM_001297.4 586 Ctc/Ttc 0 -CNKSR1 UCSF GRCh37 1 26510770 26510770 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 92 155 0 ENST00000374253.5:c.1013C>T p.Ala338Val p.A338V ENST00000374253 NM_006314.2 338 gCc/gTc 0 -CNNM4 UCSF GRCh37 2 97475190 97475190 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 57 49 102 0 ENST00000377075.2:c.2264C>T p.Thr755Ile p.T755I ENST00000377075 NM_020184.3 755 aCc/aTc 0 -CNNM4 UCSF GRCh37 2 97427097 97427097 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 70 164 0 ENST00000377075.2:c.361G>A p.Val121Ile p.V121I ENST00000377075 NM_020184.3 121 Gtc/Atc 0 -CNTN3 UCSF GRCh37 3 74349022 74349022 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 42 133 0 ENST00000263665.6:c.2163G>A p.Trp721Ter p.W721* ENST00000263665 NM_020872.1 721 tgG/tgA 0 -CNTNAP4 UCSF GRCh37 16 76389299 76389299 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 92 75 159 0 ENST00000478060.1:c.206T>C p.Val69Ala p.V69A ENST00000478060 NM_138994.3 69 gTg/gCg 0 -CNTRL UCSF GRCh37 9 123886221 123886221 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 119 143 0 ENST00000238341.5:c.1663G>A p.Ala555Thr p.A555T ENST00000238341 NM_007018.4 555 Gct/Act 0 -CNTROB UCSF GRCh37 17 7837463 7837463 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 73 175 0 ENST00000563694.1:c.278C>T p.Ser93Phe p.S93F ENST00000563694 NM_053051.3 93 tCt/tTt 0 -CNTROB UCSF GRCh37 17 7847867 7847867 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 56 89 0 ENST00000563694.1:c.1645C>T p.Leu549= p.L549= ENST00000563694 NM_053051.3 549 Ctg/Ttg 0 -COIL UCSF GRCh37 17 55027908 55027908 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 109 212 0 ENST00000240316.4:c.695G>A p.Arg232Lys p.R232K ENST00000240316 NM_004645.2 232 aGg/aAg 0 -COL16A1 UCSF GRCh37 1 32122668 32122668 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 69 126 0 ENST00000373672.3:c.4022G>A p.Gly1341Asp p.G1341D ENST00000373672 NM_001856.3 1341 gGc/gAc 0 -COL17A1 UCSF GRCh37 10 105824195 105824195 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 29 49 0 ENST00000353479.5:c.766+1G>A p.X256_splice ENST00000353479 NM_000494.3 0 -COL20A1 UCSF GRCh37 20 61951530 61951530 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 29 19 46 0 ENST00000358894.6:c.3056C>T p.Pro1019Leu p.P1019L ENST00000358894 NM_020882.2 1019 cCc/cTc 0 -COL20A1 UCSF GRCh37 20 61959774 61959774 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 40 71 0 ENST00000358894.6:c.3705G>A p.Leu1235= p.L1235= ENST00000358894 NM_020882.2 1235 ctG/ctA 0 -COL21A1 UCSF GRCh37 6 55989066 55989066 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 86 92 139 0 ENST00000244728.5:c.1675G>A p.Ala559Thr p.A559T ENST00000244728 NM_030820.3 559 Gct/Act 0 -COL21A1 UCSF GRCh37 6 56031718 56031718 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 121 67 154 0 ENST00000244728.5:c.1264G>A p.Glu422Lys p.E422K ENST00000244728 NM_030820.3 422 Gag/Aag 0 -COL22A1 UCSF GRCh37 8 139606353 139606353 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 57 30 95 0 ENST00000303045.6:c.4522G>A p.Asp1508Asn p.D1508N ENST00000303045 NM_152888.1 1508 Gat/Aat 0 -COL22A1 UCSF GRCh37 8 139661982 139661982 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 36 34 65 0 ENST00000303045.6:c.3373C>T p.Pro1125Ser p.P1125S ENST00000303045 NM_152888.1 1125 Cct/Tct 0 -COL28A1 UCSF GRCh37 7 7410432 7410432 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 70 159 0 ENST00000399429.3:c.2990C>T p.Pro997Leu p.P997L ENST00000399429 NM_001037763.2 997 cCt/cTt 0 -COL28A1 UCSF GRCh37 7 7477036 7477036 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 29 60 0 ENST00000399429.3:c.1780C>T p.Pro594Ser p.P594S ENST00000399429 NM_001037763.2 594 Cct/Tct 0 -COL3A1 UCSF GRCh37 2 189864614 189864614 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 3 11 0 ENST00000304636.3:c.2276G>A p.Gly759Asp p.G759D ENST00000304636 NM_000090.3 759 gGc/gAc 0 -COL4A1 UCSF GRCh37 13 110815821 110815821 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 15 69 0 ENST00000375820.4:c.4238C>T p.Ala1413Val p.A1413V ENST00000375820 NM_001845.4 1413 gCc/gTc 0 -COL4A2 UCSF GRCh37 13 111102651 111102651 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 42 95 0 ENST00000360467.5:c.1190-1G>A p.X397_splice ENST00000360467 NM_001846.2 0 -COL5A2 UCSF GRCh37 2 189927939 189927939 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 72 145 0 ENST00000374866.3:c.1828C>T p.Gln610Ter p.Q610* ENST00000374866 NM_000393.3 610 Cag/Tag 0 -COL6A3 UCSF GRCh37 2 238290014 238290014 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 75 192 1 ENST00000295550.4:c.1441C>T p.Leu481Phe p.L481F ENST00000295550 NM_004369.3 481 Ctt/Ttt 0 -COL7A1 UCSF GRCh37 3 48619761 48619761 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 60 148 0 ENST00000328333.8:c.4630G>A p.Val1544Met p.V1544M ENST00000328333 NM_000094.3 1544 Gtg/Atg 0 -COL8A1 UCSF GRCh37 3 99514361 99514361 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 6 24 0 ENST00000261037.3:c.1616G>A p.Gly539Glu p.G539E ENST00000261037 NM_001850.4 539 gGa/gAa 0 -COL8A2 UCSF GRCh37 1 36564612 36564612 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 28 60 0 ENST00000303143.4:c.670G>A p.Ala224Thr p.A224T ENST00000303143 NM_005202.2 224 Gcc/Acc 0 -COMP UCSF GRCh37 19 18896951 18896951 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 60 68 115 0 ENST00000222271.2:c.1313G>A p.Gly438Glu p.G438E ENST00000222271 NM_000095.2 438 gGa/gAa 0 -COPS3 UCSF GRCh37 17 17171289 17171289 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 75 116 0 ENST00000268717.5:c.351C>T p.Pro117= p.P117= ENST00000268717 NM_003653.3 117 ccC/ccT 0 -COPS4 UCSF GRCh37 4 83971051 83971051 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 122 91 247 0 ENST00000264389.2:c.324G>A p.Gln108= p.Q108= ENST00000264389 NM_016129.2 108 caG/caA 0 -CORO7 UCSF GRCh37 16 4414887 4414887 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 10 28 0 ENST00000251166.4:c.933G>A p.Gly311= p.G311= ENST00000251166 NM_024535.4 311 ggG/ggA 0 -CPA2 UCSF GRCh37 7 129909590 129909590 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 139 147 0 ENST00000222481.4:c.235G>A p.Val79Met p.V79M ENST00000222481 NM_001869.2 79 Gtg/Atg 0 -CPA4 UCSF GRCh37 7 129939224 129939224 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 132 130 0 ENST00000222482.4:c.265G>A p.Val89Met p.V89M ENST00000222482 NM_016352.3 89 Gtg/Atg 0 -CPEB4 UCSF GRCh37 5 173372078 173372078 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 162 126 227 0 ENST00000265085.5:c.1391G>A p.Gly464Glu p.G464E ENST00000265085 NM_030627.2 464 gGg/gAg 0 -CPLX3 UCSF GRCh37 15 75120402 75120402 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 11 40 0 ENST00000395018.4:c.192G>A p.Gln64= p.Q64= ENST00000395018 NM_001030005.2 64 caG/caA 0 -CPNE8 UCSF GRCh37 12 39087557 39087557 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 126 85 202 0 ENST00000331366.5:c.1045G>A p.Glu349Lys p.E349K ENST00000331366 NM_153634.2 349 Gaa/Aaa 0 -CPNE8 UCSF GRCh37 12 39069519 39069519 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 49 101 0 ENST00000331366.5:c.1432G>A p.Ala478Thr p.A478T ENST00000331366 NM_153634.2 478 Gca/Aca 0 -CRAT UCSF GRCh37 9 131864202 131864202 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 48 107 0 ENST00000318080.2:c.765C>T p.His255= p.H255= ENST00000318080 NM_001257363.1 255 caC/caT 0 -CREB1 UCSF GRCh37 2 208420369 208420369 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 43 80 0 ENST00000432329.2:c.10G>A p.Glu4Lys p.E4K ENST00000432329 NM_134442.3 4 Gaa/Aaa 0 -CREB3L2 UCSF GRCh37 7 137569861 137569861 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 77 53 103 0 ENST00000330387.6:c.1150G>A p.Val384Met p.V384M ENST00000330387 NM_194071.3 384 Gtg/Atg 0 -CREBBP UCSF GRCh37 16 3778942 3778942 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 17 15 0 ENST00000262367.5:c.6106C>T p.Pro2036Ser p.P2036S ENST00000262367 NM_004380.2 2036 Ccc/Tcc 0 -CRELD1 UCSF GRCh37 3 9976276 9976276 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 45 25 95 0 ENST00000383811.3:c.154C>T p.Leu52= p.L52= ENST00000383811 NM_015513.4 52 Ctg/Ttg 0 -CRHBP UCSF GRCh37 5 76264612 76264612 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 84 171 0 ENST00000274368.4:c.871G>A p.Val291Ile p.V291I ENST00000274368 NM_001882.3 291 Gta/Ata 0 -CRLF1 UCSF GRCh37 19 18709378 18709378 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 38 132 0 ENST00000392386.3:c.561C>T p.Tyr187= p.Y187= ENST00000392386 NM_004750.4 187 taC/taT 0 -CROCC UCSF GRCh37 1 17292500 17292500 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 35 79 0 ENST00000375541.5:c.4582C>T p.Leu1528Phe p.L1528F ENST00000375541 NM_014675.3 1528 Ctt/Ttt 0 -CSE1L UCSF GRCh37 20 47688968 47688968 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 117 79 196 0 ENST00000262982.2:c.914G>A p.Gly305Asp p.G305D ENST00000262982 NM_001316.3 305 gGt/gAt 0 -CSF1R UCSF GRCh37 5 149434822 149434822 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 59 46 89 0 ENST00000286301.3:c.2632C>T p.Pro878Ser p.P878S ENST00000286301 NM_005211.3 878 Cct/Tct 0 -CSF3R UCSF GRCh37 1 36932337 36932337 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 60 130 0 ENST00000361632.4:c.2132C>T p.Ser711Phe p.S711F ENST00000361632 711 tCc/tTc 0 -CSF3R UCSF GRCh37 1 36934774 36934774 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 45 74 0 ENST00000361632.4:c.1559C>T p.Ala520Val p.A520V ENST00000361632 520 gCc/gTc 0 -CSF3R UCSF GRCh37 1 36933197 36933197 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 28 48 0 ENST00000361632.4:c.1920C>T p.Thr640= p.T640= ENST00000361632 640 acC/acT 0 -CSNK1A1 UCSF GRCh37 5 148897381 148897381 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 116 236 0 ENST00000377843.2:c.456+2472C>T *152* ENST00000377843 NM_001271741.1 0 -CSPG4 UCSF GRCh37 15 75977233 75977233 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 71 181 0 ENST00000308508.5:c.4293C>T p.Arg1431= p.R1431= ENST00000308508 NM_001897.4 1431 cgC/cgT 0 -CST7 UCSF GRCh37 20 24937999 24937999 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 164 110 267 0 ENST00000480798.1:c.147C>T p.Val49= p.V49= ENST00000480798 NM_003650.3 49 gtC/gtT 0 -CSTF2 UCSF GRCh37 X 100079185 100079185 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 7 68 85 0 ENST00000372972.2:c.641G>A p.Gly214Asp p.G214D ENST00000372972 NM_001325.2 214 gGc/gAc 0 -CTIF UCSF GRCh37 18 46284610 46284610 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 93 160 1 ENST00000256413.3:c.905C>T p.Thr302Ile p.T302I ENST00000256413 NM_014772.2 302 aCc/aTc 0 -CTNNAL1 UCSF GRCh37 9 111705072 111705072 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 80 173 0 ENST00000325551.4:c.2182G>A p.Asp728Asn p.D728N ENST00000325551 NM_003798.2 728 Gac/Aac 0 -CTSA UCSF GRCh37 20 44520380 44520380 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 87 147 0 ENST00000191018.5:c.173G>A p.Gly58Asp p.G58D ENST00000191018 58 gGc/gAc 0 -CTSC UCSF GRCh37 11 88068104 88068104 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 56 130 0 ENST00000227266.5:c.318+1G>A p.X106_splice ENST00000227266 NM_001814.4 0 -CTSL2 UCSF GRCh37 9 99795242 99795242 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 46 96 0 ENST00000259470.5:c.994C>T p.Pro332Ser p.P332S ENST00000259470 NM_001333.3 332 Ccc/Tcc 0 -CUBN UCSF GRCh37 10 16870808 16870808 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 87 133 0 ENST00000377833.4:c.10760G>A p.Gly3587Glu p.G3587E ENST00000377833 NM_001081.3 3587 gGa/gAa 0 -CUBN UCSF GRCh37 10 16962047 16962047 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 136 38 116 0 ENST00000377833.4:c.6736G>A p.Asp2246Asn p.D2246N ENST00000377833 NM_001081.3 2246 Gat/Aat 0 -CUBN UCSF GRCh37 10 17145230 17145230 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 159 54 101 0 ENST00000377833.4:c.1424G>A p.Gly475Glu p.G475E ENST00000377833 NM_001081.3 475 gGa/gAa 0 -CUL1 UCSF GRCh37 7 148480875 148480875 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 86 80 154 0 ENST00000325222.4:c.1084G>A p.Asp362Asn p.D362N ENST00000325222 NM_003592.2 362 Gac/Aac 0 -CUL3 UCSF GRCh37 2 225339030 225339030 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 64 164 0 ENST00000264414.4:c.2239G>A p.Gly747Arg p.G747R ENST00000264414 NM_003590.4 747 Gga/Aga 0 -CUL3 UCSF GRCh37 2 225342968 225342968 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 83 135 0 ENST00000264414.4:c.2124G>A p.Val708= p.V708= ENST00000264414 NM_003590.4 708 gtG/gtA 0 -CXCL1 UCSF GRCh37 4 74735207 74735207 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 8 18 0 ENST00000395761.3:c.20C>T p.Ser7Phe p.S7F ENST00000395761 NM_001511.3 7 tCc/tTc 0 -CXCL11 UCSF GRCh37 4 76957089 76957089 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 97 185 0 ENST00000306621.3:c.52G>A p.Val18Ile p.V18I ENST00000306621 NM_005409.4 18 Gtt/Att 0 -CYB561D2 UCSF GRCh37 3 50390813 50390813 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 42 127 0 ENST00000232508.5:c.307C>T p.Leu103Phe p.L103F ENST00000232508 NM_007022.3 103 Ctt/Ttt 0 -CYB5R1 UCSF GRCh37 1 202931800 202931800 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 52 105 0 ENST00000367249.4:c.773C>T p.Thr258Ile p.T258I ENST00000367249 NM_016243.2 258 aCt/aTt 0 -CYFIP2 UCSF GRCh37 5 156787375 156787375 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 152 93 230 0 ENST00000521420.1:c.2825C>T p.Ser942Phe p.S942F ENST00000521420 942 tCc/tTc 0 -CYP2C19 UCSF GRCh37 10 96522537 96522537 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 145 133 261 0 ENST00000371321.3:c.75G>A p.Gly25= p.G25= ENST00000371321 NM_000769.1 25 ggG/ggA 0 -CYP2D6 UCSF GRCh37 22 42523985 42523985 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 41 111 0 ENST00000360608.5:c.844G>A p.Ala282Thr p.A282T ENST00000360608 NM_000106.5 282 Gcc/Acc 0 -CYP2W1 UCSF GRCh37 7 1028323 1028323 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 16 28 0 ENST00000308919.7:c.1338G>A p.Leu446= p.L446= ENST00000308919 NM_017781.2 446 ctG/ctA 0 -CYP4A11 UCSF GRCh37 1 47398447 47398447 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 251 169 337 0 ENST00000310638.4:c.1350C>T p.Phe450= p.F450= ENST00000310638 NM_000778.3 450 ttC/ttT 0 -CYP4B1 UCSF GRCh37 1 47283665 47283665 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 145 107 224 0 ENST00000271153.4:c.1233C>T p.Ala411= p.A411= ENST00000271153 411 gcC/gcT 0 -DAB2IP UCSF GRCh37 9 124535010 124535010 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 46 77 0 ENST00000408936.3:c.2203C>T p.Pro735Ser p.P735S ENST00000408936 735 Cct/Tct 0 -DACH1 UCSF GRCh37 13 72440792 72440792 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 7 24 0 ENST00000305425.4:c.116C>T p.Ser39Phe p.S39F ENST00000305425 NM_080759.4 39 tCt/tTt 0 -DACT1 UCSF GRCh37 14 59107532 59107532 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 157 120 255 0 ENST00000335867.4:c.424G>A p.Asp142Asn p.D142N ENST00000335867 142 Gat/Aat 0 -DAG1 UCSF GRCh37 3 49568292 49568292 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 50 86 0 ENST00000308775.2:c.348C>T p.Thr116= p.T116= ENST00000308775 NM_001177639.2 116 acC/acT 0 -DAG1 UCSF GRCh37 3 49548030 49548030 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 62 114 0 ENST00000308775.2:c.63G>A p.Leu21= p.L21= ENST00000308775 NM_001177639.2 21 ctG/ctA 0 -DAO UCSF GRCh37 12 109294270 109294270 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 80 163 0 ENST00000228476.3:c.1003G>A p.Glu335Lys p.E335K ENST00000228476 NM_001917.4 335 Gaa/Aaa 0 -DAPK1 UCSF GRCh37 9 90263709 90263709 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 65 168 0 ENST00000358077.5:c.1343C>T p.Ala448Val p.A448V ENST00000358077 NM_001288731.1 448 gCc/gTc 0 -DAXX UCSF GRCh37 6 33288940 33288940 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 24 55 0 ENST00000266000.6:c.612G>A p.Arg204= p.R204= ENST00000266000 204 cgG/cgA 0 -DAXX UCSF GRCh37 6 33287477 33287477 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 74 178 0 ENST00000266000.6:c.1620C>T p.Pro540= p.P540= ENST00000266000 540 ccC/ccT 0 -DCAF11 UCSF GRCh37 14 24592253 24592253 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 110 58 115 0 ENST00000446197.3:c.1473G>A p.Trp491Ter p.W491* ENST00000446197 NM_025230.4 491 tgG/tgA 0 -DCAF4 UCSF GRCh37 14 73422231 73422231 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 137 116 232 0 ENST00000358377.2:c.1006G>A p.Ala336Thr p.A336T ENST00000358377 NM_001163509.1 336 Gct/Act 0 -DCAF4L1 UCSF GRCh37 4 41984708 41984708 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 111 93 206 0 ENST00000333141.5:c.899G>A p.Arg300Lys p.R300K ENST00000333141 NM_001029955.3 300 aGg/aAg 0 -DCAF5 UCSF GRCh37 14 69589060 69589060 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 53 136 0 ENST00000341516.5:c.232G>A p.Val78Ile p.V78I ENST00000341516 NM_003861.2 78 Gtt/Att 0 -DCBLD2 UCSF GRCh37 3 98518407 98518407 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 210 118 333 0 ENST00000326840.6:c.2137G>A p.Gly713Arg p.G713R ENST00000326840 NM_080927.3 713 Gga/Aga 0 -DCC UCSF GRCh37 18 50923802 50923802 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 70 149 0 ENST00000442544.2:c.2813C>T p.Thr938Ile p.T938I ENST00000442544 NM_005215.3 938 aCc/aTc 0 -DCDC5 UCSF GRCh37 11 30946895 30946895 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 185 129 290 0 ENST00000339794.5:c.195G>A p.Lys65= p.K65= ENST00000339794 65 aaG/aaA 0 -DCHS2 UCSF GRCh37 4 155156392 155156392 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 69 54 137 0 ENST00000357232.4:c.8047G>A p.Asp2683Asn p.D2683N ENST00000357232 NM_017639.3 2683 Gac/Aac 0 -DCHS2 UCSF GRCh37 4 155411228 155411228 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 16 35 0 ENST00000339452.1:c.1280C>T p.Ser427Phe p.S427F ENST00000339452 NM_001142552.1 427 tCt/tTt 0 -DCLK2 UCSF GRCh37 4 151114344 151114344 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 90 225 0 ENST00000296550.7:c.811C>T p.Pro271Ser p.P271S ENST00000296550 NM_001040260.3 271 Cca/Tca 0 -DCLK2 UCSF GRCh37 4 151023922 151023922 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 59 171 0 ENST00000296550.7:c.714C>T p.Asp238= p.D238= ENST00000296550 NM_001040260.3 238 gaC/gaT 0 -DCLRE1A UCSF GRCh37 10 115608882 115608882 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 223 179 387 0 ENST00000361384.2:c.1982C>T p.Ser661Phe p.S661F ENST00000361384 NM_014881.4 661 tCt/tTt 0 -DCTN4 UCSF GRCh37 5 150133040 150133040 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 35 72 0 ENST00000447998.2:c.385+1G>A p.X129_splice ENST00000447998 NM_016221.3 0 -DDX17 UCSF GRCh37 22 38881953 38881953 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 64 94 0 ENST00000403230.1:c.2177C>T p.Pro726Leu p.P726L ENST00000403230 726 cCt/cTt 0 -DDX24 UCSF GRCh37 14 94528656 94528656 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 171 132 236 0 ENST00000330836.5:c.1030C>T p.Leu344= p.L344= ENST00000330836 NM_020414.3 344 Ctg/Ttg 0 -DDX28 UCSF GRCh37 16 68056152 68056152 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 101 181 0 ENST00000332395.5:c.954C>T p.Asp318= p.D318= ENST00000332395 NM_018380.3 318 gaC/gaT 0 -DDX41 UCSF GRCh37 5 176941964 176941964 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 48 78 0 ENST00000507955.1:c.751C>T p.Pro251Ser p.P251S ENST00000507955 NM_016222.2 251 Ccc/Tcc 0 -DDX60 UCSF GRCh37 4 169206643 169206643 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 34 67 0 ENST00000393743.3:c.1346C>T p.Ser449Phe p.S449F ENST00000393743 NM_017631.5 449 tCc/tTc 0 -DDX60L UCSF GRCh37 4 169343778 169343778 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 67 116 0 ENST00000260184.7:c.2141G>A p.Gly714Glu p.G714E ENST00000260184 NM_001012967.1 714 gGa/gAa 0 -DEC1 UCSF GRCh37 9 118163567 118163567 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 64 147 0 ENST00000374016.1:c.183G>A p.Arg61= p.R61= ENST00000374016 NM_017418.2 61 agG/agA 0 -DEDD2 UCSF GRCh37 19 42703731 42703731 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 35 70 0 ENST00000595337.1:c.840G>A p.Leu280= p.L280= ENST00000595337 NM_001270614.1 280 ctG/ctA 0 -DEFA6 UCSF GRCh37 8 6783437 6783437 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 24 63 0 ENST00000297436.2:c.121C>T p.Gln41Ter p.Q41* ENST00000297436 NM_001926.3 41 Cag/Tag 0 -DEFB115 UCSF GRCh37 20 29845509 29845509 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 56 138 0 ENST00000400552.1:c.43C>T p.Leu15Phe p.L15F ENST00000400552 NM_001037730.1 15 Ctc/Ttc 0 -DENMT-ND3 UCSF GRCh37 8 142146891 142146891 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 6 22 0 ENST00000262585.2:c.145+1G>A p.X49_splice ENST00000262585 NM_014957.2 0 -DENMT-ND3 UCSF GRCh37 8 142165968 142165968 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 104 203 0 ENST00000262585.2:c.855G>A p.Leu285= p.L285= ENST00000262585 NM_014957.2 285 ctG/ctA 0 -DENND4B UCSF GRCh37 1 153915483 153915483 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 49 112 0 ENST00000361217.4:c.441C>T p.Tyr147= p.Y147= ENST00000361217 NM_014856.2 147 taC/taT 0 -DEPDC1B UCSF GRCh37 5 59943252 59943252 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 51 118 0 ENST00000265036.5:c.423G>A p.Glu141= p.E141= ENST00000265036 NM_018369.2 141 gaG/gaA 0 -DGKH UCSF GRCh37 13 42772728 42772728 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 69 164 0 ENST00000337343.4:c.2282C>T p.Ser761Phe p.S761F ENST00000337343 NM_178009.3 761 tCc/tTc 0 -DHRS3 UCSF GRCh37 1 12640563 12640563 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 53 48 104 0 ENST00000376223.2:c.327C>T p.Ala109= p.A109= ENST00000376223 NM_004753.4 109 gcC/gcT 0 -DHRS4 UCSF GRCh37 14 24429110 24429110 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 250 92 339 0 ENST00000313250.5:c.307-1G>A p.X103_splice ENST00000313250 NM_021004.2 0 -DHRS4L2 UCSF GRCh37 14 24464240 24464240 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 424 90 413 0 ENST00000335125.6:c.307-1G>A p.X103_splice ENST00000335125 NM_198083.3 0 -DHX16 UCSF GRCh37 6 30622538 30622538 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 83 135 0 ENST00000376442.3:c.2942C>T p.Pro981Leu p.P981L ENST00000376442 NM_001164239.1 981 cCa/cTa 0 -DHX34 UCSF GRCh37 19 47865856 47865856 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 27 57 0 ENST00000328771.4:c.1499G>A p.Cys500Tyr p.C500Y ENST00000328771 NM_014681.5 500 tGc/tAc 0 -DHX36 UCSF GRCh37 3 154032946 154032946 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 86 158 0 ENST00000496811.1:c.492C>T p.Asp164= p.D164= ENST00000496811 NM_020865.2 164 gaC/gaT 0 -DHX38 UCSF GRCh37 16 72134369 72134369 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 43 80 0 ENST00000268482.3:c.1151C>T p.Thr384Ile p.T384I ENST00000268482 NM_014003.3 384 aCc/aTc 0 -DHX9 UCSF GRCh37 1 182849668 182849668 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 69 138 0 ENST00000367549.3:c.2549C>T p.Pro850Leu p.P850L ENST00000367549 NM_001357.4 850 cCt/cTt 0 -DIABLO UCSF GRCh37 12 122693086 122693086 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 64 44 113 0 ENST00000443649.3:c.562C>T p.Gln188Ter p.Q188* ENST00000443649 NM_019887.5 188 Cag/Tag 0 -DIEXF UCSF GRCh37 1 210024658 210024658 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 78 144 0 ENST00000491415.2:c.2137G>A p.Ala713Thr p.A713T ENST00000491415 NM_014388.6 713 Gcc/Acc 0 -DIP2B UCSF GRCh37 12 51069194 51069194 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 67 142 0 ENST00000301180.5:c.879G>A p.Lys293= p.K293= ENST00000301180 NM_173602.2 293 aaG/aaA 0 -DISP1 UCSF GRCh37 1 223164090 223164090 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 148 71 231 0 ENST00000284476.6:c.663G>A p.Leu221= p.L221= ENST00000284476 NM_032890.3 221 ctG/ctA 0 -DIXDC1 UCSF GRCh37 11 111857613 111857613 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 76 182 0 ENST00000440460.2:c.1024C>T p.Leu342= p.L342= ENST00000440460 NM_001037954.3 342 Ctg/Ttg 0 -DLG5 UCSF GRCh37 10 79579141 79579141 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 26 66 0 ENST00000372391.2:c.3609G>A p.Arg1203= p.R1203= ENST00000372391 NM_004747.3 1203 agG/agA 0 -DLGAP2 UCSF GRCh37 8 1497055 1497055 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 4 19 0 ENST00000421627.2:c.196G>A p.Val66Met p.V66M ENST00000421627 NM_004745.4 66 Gtg/Atg 0 -DLGAP3 UCSF GRCh37 1 35369974 35369974 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 67 123 0 ENST00000235180.4:c.1011C>T p.Val337= p.V337= ENST00000235180 NM_001080418.1 337 gtC/gtT 0 -DLK2 UCSF GRCh37 6 43420863 43420863 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 37 62 0 ENST00000357338.3:c.151G>A p.Gly51Ser p.G51S ENST00000357338 NM_206539.1 51 Ggc/Agc 0 -DLL1 UCSF GRCh37 6 170597827 170597827 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 113 68 190 0 ENST00000366756.3:c.402C>T p.Asp134= p.D134= ENST00000366756 NM_005618.3 134 gaC/gaT 0 -DMAP1 UCSF GRCh37 1 44684045 44684045 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 104 193 0 ENST00000315913.5:c.456G>A p.Trp152Ter p.W152* ENST00000315913 152 tgG/tgA 0 -DMXL1 UCSF GRCh37 5 118470064 118470064 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 182 101 326 1 ENST00000311085.8:c.2356C>T p.Leu786Phe p.L786F ENST00000311085 NM_005509.4 786 Ctt/Ttt 0 -DNAAF1 UCSF GRCh37 16 84188229 84188229 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 49 159 0 ENST00000378553.5:c.400C>T p.Leu134Phe p.L134F ENST00000378553 NM_178452.4 134 Ctc/Ttc 0 -DNAH14 UCSF GRCh37 1 225334902 225334902 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 102 197 0 ENST00000445597.2:c.3537+2572G>A *1179* ENST00000445597 0 -DNAH14 UCSF GRCh37 1 225577523 225577523 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 173 125 258 0 ENST00000445597.2:c.9948C>T p.Phe3316= p.F3316= ENST00000445597 3316 ttC/ttT 0 -DNAH17 UCSF GRCh37 17 76525584 76525584 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 136 98 191 0 ENST00000389840.5:c.3477G>A p.Glu1159= p.E1159= ENST00000389840 1159 gaG/gaA 0 -DNAH2 UCSF GRCh37 17 7736727 7736727 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 43 139 0 ENST00000389173.2:c.13160C>T p.Pro4387Leu p.P4387L ENST00000389173 NM_020877.2 4387 cCc/cTc 0 -DNAH2 UCSF GRCh37 17 7637966 7637966 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 70 159 0 ENST00000389173.2:c.918C>T p.Ile306= p.I306= ENST00000389173 NM_020877.2 306 atC/atT 0 -DNAH3 UCSF GRCh37 16 21080757 21080757 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 86 221 0 ENST00000261383.3:c.3360G>A p.Trp1120Ter p.W1120* ENST00000261383 NM_017539.1 1120 tgG/tgA 0 -DNAH7 UCSF GRCh37 2 196728926 196728926 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 115 71 140 0 ENST00000312428.6:c.7453C>T p.Arg2485Cys p.R2485C ENST00000312428 NM_018897.2 2485 Cgt/Tgt 0 -DNAH8 UCSF GRCh37 6 38690880 38690880 + upstream_gene_variant 5'Flank SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 188 157 297 0 ENST00000359357 0 -DNAH9 UCSF GRCh37 17 11835454 11835454 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 82 210 0 ENST00000262442.4:c.12229C>T p.Pro4077Ser p.P4077S ENST00000262442 NM_001372.3 4077 Ccc/Tcc 0 -DNAH9 UCSF GRCh37 17 11865278 11865278 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 125 96 226 0 ENST00000262442.4:c.12938C>T p.Ser4313Phe p.S4313F ENST00000262442 NM_001372.3 4313 tCc/tTc 0 -DNAH9 UCSF GRCh37 17 11523033 11523033 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 157 116 237 0 ENST00000262442.4:c.1285G>A p.Asp429Asn p.D429N ENST00000262442 NM_001372.3 429 Gat/Aat 0 -DNAH9 UCSF GRCh37 17 11865433 11865433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 124 184 0 ENST00000262442.4:c.13093C>T p.Arg4365Cys p.R4365C ENST00000262442 NM_001372.3 4365 Cgc/Tgc 0 -DNAI2 UCSF GRCh37 17 72295924 72295924 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 41 89 0 ENST00000311014.6:c.792C>T p.Asp264= p.D264= ENST00000311014 264 gaC/gaT 0 -DNAJC1 UCSF GRCh37 10 22171240 22171240 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 139 40 95 1 ENST00000376980.3:c.949G>A p.Glu317Lys p.E317K ENST00000376980 NM_022365.3 317 Gaa/Aaa 0 -DNAJC2 UCSF GRCh37 7 102957397 102957397 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 131 89 211 0 ENST00000379263.3:c.1307C>T p.Ala436Val p.A436V ENST00000379263 NM_014377.1 436 gCa/gTa 0 -DNASE1L1 UCSF GRCh37 X 153633810 153633810 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 39 24 0 ENST00000014935.3:c.100G>A p.Val34Met p.V34M ENST00000014935 34 Gtg/Atg 0 -DNHD1 UCSF GRCh37 11 6588286 6588286 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 98 207 0 ENST00000254579.6:c.11547C>T p.Pro3849= p.P3849= ENST00000254579 NM_144666.2 3849 ccC/ccT 0 -DNM2 UCSF GRCh37 19 10916604 10916604 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 63 43 111 0 ENST00000355667.6:c.1506G>A p.Arg502= p.R502= ENST00000355667 NM_001005360.2 502 agG/agA 0 -DOCK1 UCSF GRCh37 10 129172097 129172097 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 57 169 0 ENST00000280333.6:c.3422G>A p.Gly1141Glu p.G1141E ENST00000280333 NM_001380.3 1141 gGa/gAa 0 -DOCK10 UCSF GRCh37 2 225714287 225714287 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 19 50 0 ENST00000258390.7:c.2172C>T p.Leu724= p.L724= ENST00000258390 NM_014689.2 724 ctC/ctT 0 -DOCK3 UCSF GRCh37 3 51308422 51308422 + synonymous_variant Silent SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 164 137 259 0 ENST00000266037.9:c.2532C>T p.Arg844= p.R844= ENST00000266037 NM_004947.4 844 cgC/cgT 0 -DOCK3 UCSF GRCh37 3 51264836 51264836 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 168 133 285 0 ENST00000266037.9:c.1500C>T p.Phe500= p.F500= ENST00000266037 NM_004947.4 500 ttC/ttT 0 -DOCK7 UCSF GRCh37 1 63027353 63027353 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 107 65 161 0 ENST00000340370.5:c.2134T>C p.Trp712Arg p.W712R ENST00000340370 NM_033407.3 712 Tgg/Cgg 0 -DOK2 UCSF GRCh37 8 21766883 21766883 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 61 134 0 ENST00000276420.4:c.1178C>T p.Ala393Val p.A393V ENST00000276420 NM_003974.2 393 gCt/gTt 0 -DOM3Z UCSF GRCh37 6 31939281 31939281 + missense_variant Missense_Mutation SNP G G A snp132_rs115027323 P18_Rec Untested WXS Illumina HiSeq 65 59 98 0 ENST00000337523.5:c.172C>T p.Arg58Cys p.R58C ENST00000337523 NM_005510.3 58 Cgc/Tgc 0 -DPEP3 UCSF GRCh37 16 68014163 68014163 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 18 30 0 ENST00000268793.4:c.196G>A p.Gly66Ser p.G66S ENST00000268793 NM_022357.3 66 Ggc/Agc 0 -DPF1 UCSF GRCh37 19 38713026 38713026 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 63 130 0 ENST00000420980.2:c.350C>T p.Pro117Leu p.P117L ENST00000420980 NM_004647.2 117 cCc/cTc 0 -DPH2 UCSF GRCh37 1 44436675 44436675 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 11 15 0 ENST00000255108.3:c.298G>A p.Ala100Thr p.A100T ENST00000255108 NM_001384.4 100 Gct/Act 0 -DPH2 UCSF GRCh37 1 44437200 44437200 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 77 149 0 ENST00000255108.3:c.626G>A p.Arg209Lys p.R209K ENST00000255108 NM_001384.4 209 aGg/aAg 0 -DPY19L3 UCSF GRCh37 19 32971452 32971452 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 42 75 0 ENST00000342179.5:c.1978G>A p.Ala660Thr p.A660T ENST00000342179 NM_207325.2 660 Gcc/Acc 0 -DPY19L4 UCSF GRCh37 8 95793303 95793310 + splice_acceptor_variant,intron_variant Splice_Site INS GCATTTTA GCATTTTA TTCCTTTTT NOVEL P18_Rec Untested WXS Illumina HiSeq 10 0 ENST00000414645.2:c.1633-9_1633-2delinsTTCCTTTTT p.X545_splice ENST00000414645 NM_181787.2 0 -DPYD UCSF GRCh37 1 97564070 97564070 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 93 247 0 ENST00000370192.3:c.2741C>T p.Pro914Leu p.P914L ENST00000370192 NM_000110.3 914 cCc/cTc 0 -DPYSL2 UCSF GRCh37 8 26485411 26485411 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 19 50 0 ENST00000311151.5:c.645G>A p.Leu215= p.L215= ENST00000311151 NM_001386.5 215 ctG/ctA 0 -DSCAML1 UCSF GRCh37 11 117387190 117387190 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 21 54 0 ENST00000321322.6:c.1955C>T p.Ala652Val p.A652V ENST00000321322 NM_020693.2 652 gCc/gTc 0 -DSCR4 UCSF GRCh37 21 39492435 39492435 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 46 116 0 ENST00000328264.3:c.196C>T p.Pro66Ser p.P66S ENST00000328264 NM_005867.2 66 Cct/Tct 0 -DSP UCSF GRCh37 6 7582925 7582925 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 122 86 172 0 ENST00000379802.3:c.5430G>A p.Gln1810= p.Q1810= ENST00000379802 NM_004415.2 1810 caG/caA 0 -DSPP UCSF GRCh37 4 88534257 88534257 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 56 166 1 ENST00000282478.7:c.919C>A p.Pro307Thr p.P307T ENST00000282478 307 Cct/Act 0 -DST UCSF GRCh37 6 56330989 56330989 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 123 86 210 0 ENST00000244364.6:c.14705G>A p.Gly4902Glu p.G4902E ENST00000244364 NM_015548.4 4902 gGa/gAa 0 -DST UCSF GRCh37 6 56422302 56422302 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 101 71 170 0 ENST00000244364.6:c.6586G>A p.Glu2196Lys p.E2196K ENST00000244364 NM_015548.4 2196 Gaa/Aaa 0 -DST UCSF GRCh37 6 56433267 56433267 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 191 128 295 0 ENST00000244364.6:c.6136G>A p.Gly2046Ser p.G2046S ENST00000244364 NM_015548.4 2046 Ggt/Agt 0 -DUOX2 UCSF GRCh37 15 45393011 45393011 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 58 119 0 ENST00000603300.1:c.2947C>T p.Pro983Ser p.P983S ENST00000603300 NM_014080.4 983 Cct/Tct 0 -DUOX2 UCSF GRCh37 15 45401098 45401098 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 67 170 0 ENST00000603300.1:c.1287C>T p.Ser429= p.S429= ENST00000603300 NM_014080.4 429 agC/agT 0 -DUS1L UCSF GRCh37 17 80022025 80022025 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 20 46 0 ENST00000306796.5:c.323G>A p.Cys108Tyr p.C108Y ENST00000306796 NM_022156.4 108 tGc/tAc 0 -DUSP11 UCSF GRCh37 2 74005494 74005494 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 54 127 0 ENST00000272444.3:c.252C>T p.Asp84= p.D84= ENST00000272444 NM_003584.2 84 gaC/gaT 0 -DUSP22 UCSF GRCh37 6 348153 348153 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 225 73 284 0 ENST00000344450.5:c.314C>T p.Thr105Ile p.T105I ENST00000344450 NM_020185.3 105 aCc/aTc 0 -DUSP22 UCSF GRCh37 6 345859 345859 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 27 113 0 ENST00000344450.5:c.194G>A p.Arg65Lys p.R65K ENST00000344450 NM_020185.3 65 aGa/aAa 0 -DVL2 UCSF GRCh37 17 7133431 7133431 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 63 153 0 ENST00000005340.5:c.454G>A p.Glu152Lys p.E152K ENST00000005340 NM_004422.2 152 Gaa/Aaa 0 -DYNC1H1 UCSF GRCh37 14 102446879 102446879 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 41 88 0 ENST00000360184.4:c.953C>T p.Thr318Ile p.T318I ENST00000360184 NM_001376.4 318 aCt/aTt 0 -DYTN UCSF GRCh37 2 207572123 207572123 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 75 178 0 ENST00000452335.2:c.199C>T p.Gln67Ter p.Q67* ENST00000452335 NM_001093730.1 67 Caa/Taa 0 -DZIP3 UCSF GRCh37 3 108403174 108403174 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 195 146 283 0 ENST00000361582.3:c.2995C>T p.Pro999Ser p.P999S ENST00000361582 NM_014648.3 999 Cct/Tct 0 -E2F3 UCSF GRCh37 6 20483110 20483110 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 65 163 0 ENST00000346618.3:c.843C>T p.Thr281= p.T281= ENST00000346618 NM_001949.4 281 acC/acT 0 -E2F8 UCSF GRCh37 11 19259421 19259421 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 176 113 256 0 ENST00000250024.4:c.274G>A p.Glu92Lys p.E92K ENST00000250024 NM_024680.3 92 Gag/Aag 0 -E4F1 UCSF GRCh37 16 2282801 2282801 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 145 45 99 0 ENST00000301727.4:c.775G>A p.Glu259Lys p.E259K ENST00000301727 NM_004424.3 259 Gag/Aag 0 -EBF3 UCSF GRCh37 10 131755587 131755587 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 77 156 0 ENST00000355311.5:c.489G>A p.Arg163= p.R163= ENST00000355311 163 cgG/cgA 0 -ECD UCSF GRCh37 10 74923685 74923685 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 83 175 0 ENST00000372979.4:c.11C>T p.Thr4Ile p.T4I ENST00000372979 NM_007265.2 4 aCc/aTc 0 -ECE2 UCSF GRCh37 3 184009200 184009200 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 29 81 0 ENST00000402825.3:c.2448C>T p.His816= p.H816= ENST00000402825 NM_014693.3 816 caC/caT 0 -ECEL1 UCSF GRCh37 2 233346327 233346327 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 14 38 0 ENST00000304546.1:c.1878C>T p.Asp626= p.D626= ENST00000304546 NM_004826.2 626 gaC/gaT 0 -ECT2L UCSF GRCh37 6 139186154 139186154 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 43 133 0 ENST00000367682.2:c.1313C>T p.Ser438Phe p.S438F ENST00000367682 NM_001077706.2 438 tCc/tTc 0 -EDC4 UCSF GRCh37 16 67914460 67914460 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 113 85 181 0 ENST00000358933.5:c.2098G>A p.Val700Met p.V700M ENST00000358933 NM_014329.4 700 Gtg/Atg 0 -EDDM3B UCSF GRCh37 14 21238360 21238360 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 65 129 0 ENST00000326783.3:c.51C>T p.Ile17= p.I17= ENST00000326783 NM_022360.4 17 atC/atT 0 -EEF1G UCSF GRCh37 11 62339367 62339367 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 43 82 0 ENST00000329251.4:c.178G>A p.Ala60Thr p.A60T ENST00000329251 NM_001404.4 60 Gca/Aca 0 -EEFSEC UCSF GRCh37 3 128060344 128060344 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 84 68 139 0 ENST00000254730.6:c.1055G>A p.Ser352Asn p.S352N ENST00000254730 NM_021937.3 352 aGt/aAt 0 -EFCAB4B UCSF GRCh37 12 3757770 3757770 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 44 29 76 0 ENST00000252322.1:c.1056C>T p.Tyr352= p.Y352= ENST00000252322 NM_032680.3 352 taC/taT 0 -EFNA2 UCSF GRCh37 19 1295590 1295590 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 8 26 0 ENST00000215368.2:c.187G>A p.Val63Met p.V63M ENST00000215368 NM_001405.3 63 Gtg/Atg 0 -EFNA3 UCSF GRCh37 1 155058671 155058671 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 13 37 0 ENST00000368408.3:c.576C>T p.Ile192= p.I192= ENST00000368408 NM_004952.4 192 atC/atT 0 -EFS UCSF GRCh37 14 23829833 23829833 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 28 70 0 ENST00000216733.3:c.228C>T p.Leu76= p.L76= ENST00000216733 NM_005864.3 76 ctC/ctT 0 -EGFR UCSF GRCh37 7 55242501 55242501 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 56 144 0 ENST00000275493.2:c.2271G>A p.Lys757= p.K757= ENST00000275493 NM_005228.3 757 aaG/aaA 0 -EGR2 UCSF GRCh37 10 64574204 64574204 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 49 111 0 ENST00000242480.3:c.194C>T p.Thr65Ile p.T65I ENST00000242480 NM_001136177.1 65 aCt/aTt 0 -EHD2 UCSF GRCh37 19 48220001 48220001 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 19 51 0 ENST00000263277.3:c.132C>T p.Ala44= p.A44= ENST00000263277 NM_014601.3 44 gcC/gcT 0 -EHMT2 UCSF GRCh37 6 31854826 31854826 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 37 74 0 ENST00000375537.4:c.2064C>T p.Pro688= p.P688= ENST00000375537 NM_006709.3 688 ccC/ccT 0 -EHMT2 UCSF GRCh37 6 31864507 31864507 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 55 146 0 ENST00000375537.4:c.204C>T p.Ala68= p.A68= ENST00000375537 NM_006709.3 68 gcC/gcT 0 -EIF2AK1 UCSF GRCh37 7 6064421 6064421 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 110 84 178 0 ENST00000199389.6:c.1776C>T p.Thr592= p.T592= ENST00000199389 NM_001134335.1 592 acC/acT 0 -EIF2C1 UCSF GRCh37 1 36385140 36385140 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 15 46 0 ENST00000373204.4:c.2506G>A p.Asp836Asn p.D836N ENST00000373204 NM_012199.2 836 Gac/Aac 0 -EIF2C2 UCSF GRCh37 8 141568663 141568663 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 49 114 0 ENST00000220592.5:c.799G>A p.Val267Met p.V267M ENST00000220592 NM_012154.3 267 Gtg/Atg 0 -EIF3A UCSF GRCh37 10 120833414 120833414 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 81 63 127 0 ENST00000369144.3:c.85G>A p.Asp29Asn p.D29N ENST00000369144 NM_003750.2 29 Gat/Aat 0 -EIF5B UCSF GRCh37 2 99984995 99984995 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 43 115 0 ENST00000289371.6:c.1328G>A p.Arg443Lys p.R443K ENST00000289371 NM_015904.3 443 aGg/aAg 0 -ELF1 UCSF GRCh37 13 41515250 41515250 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 142 134 270 0 ENST00000239882.3:c.1063C>T p.Pro355Ser p.P355S ENST00000239882 NM_172373.3 355 Ccc/Tcc 0 -ELF5 UCSF GRCh37 11 34502512 34502512 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 48 127 0 ENST00000312319.2:c.508C>T p.Leu170Phe p.L170F ENST00000312319 NM_001243081.1 170 Ctc/Ttc 0 -ELP4 UCSF GRCh37 11 31531461 31531461 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 30 71 0 ENST00000350638.5:c.130C>T p.Pro44Ser p.P44S ENST00000350638 NM_019040.3 44 Cct/Tct 0 -ELP4 UCSF GRCh37 11 31561313 31561313 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 126 97 192 0 ENST00000350638.5:c.364C>T p.Pro122Ser p.P122S ENST00000350638 NM_019040.3 122 Cct/Tct 0 -EMID1 UCSF GRCh37 22 29654839 29654839 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 26 69 0 ENST00000334018.6:c.1238G>A p.Gly413Asp p.G413D ENST00000334018 NM_001267895.1 413 gGc/gAc 0 -EML4 UCSF GRCh37 2 42513493 42513493 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 125 195 0 ENST00000318522.5:c.1096G>A p.Val366Ile p.V366I ENST00000318522 NM_019063.3 366 Gta/Ata 0 -ENC1 UCSF GRCh37 5 73932029 73932029 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 72 159 0 ENST00000302351.4:c.282C>T p.His94= p.H94= ENST00000302351 NM_003633.3 94 caC/caT 0 -ENOSF1 UCSF GRCh37 18 677400 677400 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 60 156 0 ENST00000251101.7:c.1093G>A p.Val365Met p.V365M ENST00000251101 NM_017512.5 365 Gtg/Atg 0 -ENPP2 UCSF GRCh37 8 120575108 120575108 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 57 170 0 ENST00000075322.6:c.2410G>A p.Glu804Lys p.E804K ENST00000075322 NM_001040092.2 804 Gag/Aag 0 -ENPP3 UCSF GRCh37 6 131962671 131962671 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 51 86 0 ENST00000357639.3:c.154+1G>A p.X52_splice ENST00000357639 NM_005021.3 0 -EP300 UCSF GRCh37 22 41554450 41554450 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 45 93 0 ENST00000263253.7:c.3536G>A p.Gly1179Asp p.G1179D ENST00000263253 NM_001429.3 1179 gGc/gAc 0 -EP400 UCSF GRCh37 12 132445312 132445312 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 35 73 0 ENST00000389561.2:c.148G>A p.Ala50Thr p.A50T ENST00000389561 NM_015409.4 50 Gca/Aca 0 -EPB41L1 UCSF GRCh37 20 34802304 34802304 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 29 51 0 ENST00000338074.2:c.2210G>A p.Gly737Glu p.G737E ENST00000338074 NM_012156.2 737 gGg/gAg 0 -EPB42 UCSF GRCh37 15 43489632 43489632 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 72 49 120 0 ENST00000441366.2:c.1944G>A p.Met648Ile p.M648I ENST00000441366 NM_001114134.1 648 atG/atA 0 -EPG5 UCSF GRCh37 18 43460180 43460180 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 41 48 88 0 ENST00000282041.5:c.5527G>A p.Glu1843Lys p.E1843K ENST00000282041 NM_020964.2 1843 Gag/Aag 0 -EPHA3 UCSF GRCh37 3 89259579 89259579 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 191 130 282 0 ENST00000336596.2:c.723G>A p.Arg241= p.R241= ENST00000336596 NM_005233.5 241 agG/agA 0 -EPHB2 UCSF GRCh37 1 23233224 23233224 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 34 36 83 0 ENST00000400191.3:c.1910G>A p.Ser637Asn p.S637N ENST00000400191 NM_004442.6 637 aGt/aAt 0 -EPHB2 UCSF GRCh37 1 23236953 23236953 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 61 128 0 ENST00000400191.3:c.2581G>A p.Asp861Asn p.D861N ENST00000400191 NM_004442.6 861 Gac/Aac 0 -EPHB4 UCSF GRCh37 7 100405188 100405188 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 43 138 0 ENST00000358173.3:c.2133G>A p.Gln711= p.Q711= ENST00000358173 NM_004444.4 711 caG/caA 0 -EPM2AIP1 UCSF GRCh37 3 37033760 37033760 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 129 107 184 0 ENST00000322716.5:c.809C>T p.Pro270Leu p.P270L ENST00000322716 NM_014805.3 270 cCc/cTc 0 -EPPK1 UCSF GRCh37 8 144941870 144941870 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 123 91 194 1 ENST00000525985.1:c.5552G>A p.Arg1851Lys p.R1851K ENST00000525985 NM_031308.2 1851 aGa/aAa 0 -EPPK1 UCSF GRCh37 8 144945283 144945283 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 65 146 0 ENST00000525985.1:c.2139G>A p.Arg713= p.R713= ENST00000525985 NM_031308.2 713 cgG/cgA 0 -EPX UCSF GRCh37 17 56274611 56274611 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 57 43 97 0 ENST00000225371.5:c.1113C>T p.Phe371= p.F371= ENST00000225371 NM_000502.4 371 ttC/ttT 0 -ERAP1 UCSF GRCh37 5 96139106 96139106 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 69 147 0 ENST00000443439.2:c.524G>A p.Arg175Lys p.R175K ENST00000443439 NM_001040458.1 175 aGg/aAg 0 -ERBB2IP UCSF GRCh37 5 65350661 65350661 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 51 156 0 ENST00000284037.5:c.3515G>A p.Arg1172Lys p.R1172K ENST00000284037 NM_001253697.1 1172 aGa/aAa 0 -ERBB4 UCSF GRCh37 2 212483992 212483992 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 39 98 0 ENST00000342788.4:c.2211G>A p.Trp737Ter p.W737* ENST00000342788 NM_005235.2 737 tgG/tgA 0 -ERP27 UCSF GRCh37 12 15070178 15070178 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 152 85 198 0 ENST00000266397.2:c.510G>A p.Lys170= p.K170= ENST00000266397 NM_152321.2 170 aaG/aaA 0 -ESRRB UCSF GRCh37 14 76966402 76966402 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 63 139 0 ENST00000380887.2:c.1493G>A p.Gly498Glu p.G498E ENST00000380887 498 gGa/gAa 0 -ESRRG UCSF GRCh37 1 216692502 216692502 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 45 152 0 ENST00000408911.3:c.1124C>T p.Ala375Val p.A375V ENST00000408911 NM_001438.3 375 gCt/gTt 0 -ETFB UCSF GRCh37 19 51869553 51869553 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 16 26 0 ENST00000309244.4:c.28G>A p.Val10Ile p.V10I ENST00000309244 NM_001985.2 10 Gtc/Atc 0 -ETFDH UCSF GRCh37 4 159627470 159627470 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 73 156 0 ENST00000511912.1:c.1415G>A p.Gly472Glu p.G472E ENST00000511912 NM_004453.2 472 gGa/gAa 0 -ETS1 UCSF GRCh37 11 128359262 128359262 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 174 153 313 0 ENST00000319397.6:c.326G>A p.Gly109Asp p.G109D ENST00000319397 NM_005238.3 109 gGt/gAt 0 -ETV3 UCSF GRCh37 1 157095543 157095543 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 31 46 0 ENST00000368192.4:c.629C>T p.Ser210Phe p.S210F ENST00000368192 NM_001145312.1 210 tCc/tTc 0 -EXOC6 UCSF GRCh37 10 94700484 94700484 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 27 88 0 ENST00000260762.6:c.1213G>A p.Gly405Ser p.G405S ENST00000260762 NM_019053.4 405 Ggt/Agt 0 -EXOSC2 UCSF GRCh37 9 133573605 133573605 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 54 89 0 ENST00000372358.5:c.327G>A p.Leu109= p.L109= ENST00000372358 109 ctG/ctA 0 -EXPH5 UCSF GRCh37 11 108382821 108382821 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 124 75 222 0 ENST00000265843.4:c.3413G>A p.Gly1138Glu p.G1138E ENST00000265843 NM_015065.2 1138 gGa/gAa 0 -EYA3 UCSF GRCh37 1 28362189 28362189 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 88 209 0 ENST00000373871.3:c.227C>T p.Pro76Leu p.P76L ENST00000373871 76 cCt/cTt 0 -EZR UCSF GRCh37 6 159205752 159205752 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 32 91 0 ENST00000337147.7:c.475G>A p.Asp159Asn p.D159N ENST00000337147 NM_003379.4 159 Gac/Aac 0 -F2RL3 UCSF GRCh37 19 17000773 17000773 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 12 6 19 0 ENST00000248076.3:c.499C>T p.Leu167= p.L167= ENST00000248076 NM_003950.2 167 Ctg/Ttg 0 -FAF1 UCSF GRCh37 1 51253837 51253837 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 56 168 0 ENST00000396153.2:c.202C>T p.Pro68Ser p.P68S ENST00000396153 NM_007051.2 68 Cca/Tca 0 -FAF2 UCSF GRCh37 5 175913454 175913454 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 70 145 0 ENST00000261942.6:c.231G>A p.Arg77= p.R77= ENST00000261942 NM_014613.2 77 agG/agA 0 -FAM105A UCSF GRCh37 5 14609106 14609106 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0011 P18_Rec Untested WXS Illumina HiSeq 208 135 280 0 ENST00000274217.3:c.877G>A p.Asp293Asn p.D293N ENST00000274217 NM_019018.2 293 Gac/Aac 0 -FAM107B UCSF GRCh37 10 14816616 14816616 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 168 71 149 0 ENST00000181796.2:c.47C>T p.Ser16Phe p.S16F ENST00000181796 NM_031453.2 16 tCt/tTt 0 -FAM109B UCSF GRCh37 22 42474031 42474031 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 9 20 0 ENST00000321753.3:c.734G>A p.Arg245Lys p.R245K ENST00000321753 NM_001002034.2 245 aGg/aAg 0 -FAM110B UCSF GRCh37 8 59059803 59059803 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 60 112 0 ENST00000361488.3:c.1014G>A p.Val338= p.V338= ENST00000361488 NM_147189.2 338 gtG/gtA 0 -FAM116A UCSF GRCh37 3 57614579 57614579 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 84 204 0 ENST00000311128.5:c.1654G>A p.Val552Ile p.V552I ENST00000311128 NM_152678.2 552 Gta/Ata 0 -FAM123C UCSF GRCh37 2 131519926 131519926 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 12 28 0 ENST00000321420.4:c.281C>T p.Thr94Ile p.T94I ENST00000321420 94 aCt/aTt 0 -FAM129C UCSF GRCh37 19 17653039 17653039 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 82 145 1 ENST00000335393.4:c.1358C>T p.Ala453Val p.A453V ENST00000335393 NM_173544.4 453 gCa/gTa 0 -FAM131C UCSF GRCh37 1 16386429 16386429 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 6 36 0 ENST00000375662.4:c.386C>T p.Ser129Phe p.S129F ENST00000375662 NM_182623.2 129 tCc/tTc 0 -FAM13B UCSF GRCh37 5 137278595 137278595 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 129 111 209 0 ENST00000033079.3:c.2491C>T p.Leu831Phe p.L831F ENST00000033079 NM_016603.2 831 Ctc/Ttc 0 -FAM149A UCSF GRCh37 4 187078868 187078868 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 72 113 0 ENST00000356371.5:c.1597C>T p.Pro533Ser p.P533S ENST00000356371 533 Ccc/Tcc 0 -FAM149B1 UCSF GRCh37 10 74995047 74995047 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 142 105 226 0 ENST00000242505.6:c.1573C>T p.Pro525Ser p.P525S ENST00000242505 NM_173348.1 525 Ccc/Tcc 0 -FAM154B UCSF GRCh37 15 82574934 82574934 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 110 69 170 0 ENST00000339465.5:c.728G>A p.Gly243Asp p.G243D ENST00000339465 NM_001008226.1 243 gGt/gAt 0 -FAM160A2 UCSF GRCh37 11 6245656 6245656 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 50 137 0 ENST00000449352.2:c.91G>A p.Ala31Thr p.A31T ENST00000449352 31 Gct/Act 0 -FAM161B UCSF GRCh37 14 74411536 74411536 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 21 43 0 ENST00000286544.3:c.616C>A p.Pro206Thr p.P206T ENST00000286544 NM_152445.2 206 Ccc/Acc 0 -FAM163A UCSF GRCh37 1 179783116 179783116 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 32 83 0 ENST00000341785.4:c.296C>T p.Ser99Phe p.S99F ENST00000341785 NM_173509.2 99 tCc/tTc 0 -FAM171B UCSF GRCh37 2 187605111 187605111 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 68 159 1 ENST00000304698.5:c.395G>A p.Gly132Glu p.G132E ENST00000304698 NM_177454.3 132 gGa/gAa 0 -FAM171B UCSF GRCh37 2 187627152 187627152 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 76 160 0 ENST00000304698.5:c.2083G>A p.Gly695Ser p.G695S ENST00000304698 NM_177454.3 695 Ggc/Agc 0 -FAM178B UCSF GRCh37 2 97637810 97637810 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 7 16 0 ENST00000417561.3:c.836C>T p.Ala279Val p.A279V ENST00000417561 279 gCc/gTc 0 -FAM180B UCSF GRCh37 11 47609803 47609803 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 34 83 0 ENST00000356737.2:c.492C>T p.Leu164= p.L164= ENST00000356737 164 ctC/ctT 0 -FAM184B UCSF GRCh37 4 17654527 17654527 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 11 20 0 ENST00000265018.3:c.2117C>T p.Ala706Val p.A706V ENST00000265018 NM_015688.1 706 gCc/gTc 0 -FAM188A UCSF GRCh37 10 15902243 15902243 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 19 28 0 ENST00000277632.3:c.56C>T p.Pro19Leu p.P19L ENST00000277632 NM_024948.2 19 cCc/cTc 0 -FAM194B UCSF GRCh37 13 46171026 46171026 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 145 95 220 0 ENST00000298738.2:c.115G>A p.Asp39Asn p.D39N ENST00000298738 NM_182542.2 39 Gat/Aat 0 -FAM203A UCSF GRCh37 8 145193675 145193675 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 29 88 0 ENST00000347708.4:c.752C>T p.Pro251Leu p.P251L ENST00000347708 NM_016458.2 251 cCc/cTc 0 -FAM208B UCSF GRCh37 10 5788719 5788719 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 358 148 299 0 ENST00000328090.5:c.3335C>T p.Ser1112Phe p.S1112F ENST00000328090 NM_017782.4 1112 tCt/tTt 0 -FAM20A UCSF GRCh37 17 66537057 66537057 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 18 20 34 0 ENST00000592554.1:c.1152C>T p.Ile384= p.I384= ENST00000592554 NM_001243746.1 384 atC/atT 0 -FAM32A UCSF GRCh37 19 16296498 16296498 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 11 24 0 ENST00000263384.7:c.138G>A p.Lys46= p.K46= ENST00000263384 NM_014077.2 46 aaG/aaA 0 -FAM40A UCSF GRCh37 1 110590402 110590402 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 8 13 0 ENST00000369795.3:c.1572C>T p.Leu524= p.L524= ENST00000369795 NM_033088.3 524 ctC/ctT 0 -FAM47E UCSF GRCh37 4 77199326 77199326 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 59 125 0 ENST00000424749.2:c.975G>A p.Glu325= p.E325= ENST00000424749 NM_001136570.2 325 gaG/gaA 0 -FAM65A UCSF GRCh37 16 67572917 67572917 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 35 103 0 ENST00000379312.3:c.294G>A p.Gln98= p.Q98= ENST00000379312 NM_001193522.1 98 caG/caA 0 -GARIN3 UCSF GRCh37 5 156590120 156590120 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 46 101 0 ENST00000302938.4:c.1156G>A p.Ala386Thr p.A386T ENST00000302938 NM_130899.2 386 Gca/Aca 0 -GARIN1B UCSF GRCh37 7 128355653 128355653 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 73 128 0 ENST00000315184.5:c.158G>A p.Gly53Asp p.G53D ENST00000315184 NM_032599.2 53 gGt/gAt 0 -FAM73B UCSF GRCh37 9 131825526 131825526 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 13 51 0 ENST00000358369.4:c.1014G>A p.Thr338= p.T338= ENST00000358369 NM_032809.2 338 acG/acA 0 -FAM83G UCSF GRCh37 17 18891670 18891670 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 64 158 0 ENST00000345041.4:c.580G>A p.Asp194Asn p.D194N ENST00000345041 194 Gac/Aac 0 -FAM84A UCSF GRCh37 2 14774968 14774968 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 28 46 0 ENST00000295092.2:c.865G>A p.Asp289Asn p.D289N ENST00000295092 NM_145175.2 289 Gac/Aac 0 -FANCD2 UCSF GRCh37 3 10128823 10128823 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 201 147 313 0 ENST00000383807.1:c.3341G>A p.Ser1114Asn p.S1114N ENST00000383807 NM_001018115.1 1114 aGc/aAc 0 -FANCM UCSF GRCh37 14 45636326 45636326 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 88 200 0 ENST00000267430.5:c.1962G>A p.Arg654= p.R654= ENST00000267430 NM_020937.2 654 cgG/cgA 0 -FARP1 UCSF GRCh37 13 99047730 99047730 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 37 101 0 ENST00000319562.6:c.1414G>A p.Gly472Ser p.G472S ENST00000319562 NM_005766.2 472 Ggc/Agc 0 -FARSB UCSF GRCh37 2 223464748 223464748 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 118 210 0 ENST00000281828.6:c.1517C>T p.Pro506Leu p.P506L ENST00000281828 NM_005687.3 506 cCt/cTt 0 -FASN UCSF GRCh37 17 80045130 80045130 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 15 5 26 0 ENST00000306749.2:c.3224-1G>A p.X1075_splice ENST00000306749 NM_004104.4 0 -FAT1 UCSF GRCh37 4 187558026 187558026 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 219 182 348 0 ENST00000441802.2:c.3685G>A p.Ala1229Thr p.A1229T ENST00000441802 NM_005245.3 1229 Gca/Aca 0 -FAT1 UCSF GRCh37 4 187516856 187516856 + synonymous_variant Silent SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 197 118 277 0 ENST00000441802.2:c.13125G>T p.Ser4375= p.S4375= ENST00000441802 NM_005245.3 4375 tcG/tcT 0 -FAT3 UCSF GRCh37 11 92539561 92539561 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 89 197 0 ENST00000298047.6:c.9127C>T p.Pro3043Ser p.P3043S ENST00000298047 3043 Cca/Tca 0 -FAT3 UCSF GRCh37 11 92592401 92592401 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 167 97 211 0 ENST00000298047.6:c.11571G>A p.Glu3857= p.E3857= ENST00000298047 3857 gaG/gaA 0 -FAT4 UCSF GRCh37 4 126241968 126241968 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 93 210 0 ENST00000394329.3:c.4402C>T p.His1468Tyr p.H1468Y ENST00000394329 NM_024582.4 1468 Cac/Tac 0 -FAT4 UCSF GRCh37 4 126239253 126239253 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 61 162 0 ENST00000394329.3:c.1687G>A p.Val563Met p.V563M ENST00000394329 NM_024582.4 563 Gtg/Atg 0 -FAT4 UCSF GRCh37 4 126411568 126411568 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 93 185 0 ENST00000394329.3:c.13591G>A p.Gly4531Arg p.G4531R ENST00000394329 NM_024582.4 4531 Ggg/Agg 0 -FBN2 UCSF GRCh37 5 127674694 127674694 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 79 176 0 ENST00000262464.4:c.3403C>T p.Pro1135Ser p.P1135S ENST00000262464 NM_001999.3 1135 Ccg/Tcg 0 -FBN3 UCSF GRCh37 19 8131101 8131101 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 27 46 0 ENST00000270509.2:c.8132G>A p.Gly2711Asp p.G2711D ENST00000270509 NM_032447.3 2711 gGc/gAc 0 -FBN3 UCSF GRCh37 19 8171033 8171033 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 47 81 0 ENST00000270509.2:c.4772C>T p.Pro1591Leu p.P1591L ENST00000270509 NM_032447.3 1591 cCa/cTa 0 -FBXL2 UCSF GRCh37 3 33418797 33418797 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 65 166 0 ENST00000484457.1:c.821C>T p.Thr274Ile p.T274I ENST00000484457 NM_012157.3 274 aCt/aTt 0 -FBXL5 UCSF GRCh37 4 15607372 15607372 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 28 78 0 ENST00000341285.3:c.2050C>T p.Arg684Ter p.R684* ENST00000341285 NM_001193534.1 684 Cga/Tga 0 -FBXO15 UCSF GRCh37 18 71797856 71797856 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 63 48 123 0 ENST00000419743.2:c.370C>T p.Pro124Ser p.P124S ENST00000419743 NM_001142958.1 124 Cct/Tct 0 -FBXO25 UCSF GRCh37 8 413085 413085 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 320 133 267 0 ENST00000382824.1:c.721C>T p.Pro241Ser p.P241S ENST00000382824 241 Cca/Tca 0 -FBXO34 UCSF GRCh37 14 55818764 55818764 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 152 97 239 0 ENST00000313833.4:c.1656G>A p.Lys552= p.K552= ENST00000313833 NM_017943.3 552 aaG/aaA 0 -FBXO36 UCSF GRCh37 2 230787285 230787285 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 41 36 77 0 ENST00000283946.3:c.56C>T p.Pro19Leu p.P19L ENST00000283946 NM_174899.4 19 cCt/cTt 0 -FBXO40 UCSF GRCh37 3 121341334 121341334 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 113 66 191 0 ENST00000338040.4:c.1058C>T p.Pro353Leu p.P353L ENST00000338040 NM_016298.3 353 cCt/cTt 0 -FCGBP UCSF GRCh37 19 40421162 40421162 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 37 50 0 ENST00000221347.6:c.2759C>T p.Thr920Met p.T920M ENST00000221347 NM_003890.2 920 aCg/aTg 0 -FCGR2B UCSF GRCh37 1 161642974 161642974 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 125 32 232 1 ENST00000358671.5:c.601G>A p.Gly201Ser p.G201S ENST00000358671 NM_001002275.2 201 Ggc/Agc 0 -FCRL1 UCSF GRCh37 1 157772450 157772450 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 29 72 0 ENST00000368176.3:c.324C>T p.Val108= p.V108= ENST00000368176 NM_001159398.1 108 gtC/gtT 0 -FCRL3 UCSF GRCh37 1 157659708 157659708 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 51 111 0 ENST00000368184.3:c.1691-1G>A p.X564_splice ENST00000368184 NM_052939.3 0 -FCRL5 UCSF GRCh37 1 157490246 157490246 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 8 21 0 ENST00000361835.3:c.2607C>T p.Leu869= p.L869= ENST00000361835 NM_001195388.1 869 ctC/ctT 0 -FCRLA UCSF GRCh37 1 161681016 161681016 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 33 52 1 ENST00000367959.2:c.320G>A p.Gly107Asp p.G107D ENST00000367959 NM_001184866.1 107 gGt/gAt 0 -FDXR UCSF GRCh37 17 72868192 72868192 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 23 42 0 ENST00000293195.5:c.146C>T p.Ala49Val p.A49V ENST00000293195 NM_001258014.1 49 gCt/gTt 0 -FEM1B UCSF GRCh37 15 68583057 68583057 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 124 255 0 ENST00000306917.4:c.1361C>T p.Ser454Phe p.S454F ENST00000306917 NM_015322.4 454 tCt/tTt 0 -FEM1C UCSF GRCh37 5 114860449 114860449 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 149 125 264 0 ENST00000274457.3:c.1410C>T p.Tyr470= p.Y470= ENST00000274457 NM_020177.2 470 taC/taT 0 -FER1L5 UCSF GRCh37 2 97361303 97361303 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 29 50 0 ENST00000397978.2:n.110G>A *37* ENST00000397978 0 -FER1L6 UCSF GRCh37 8 124978482 124978482 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 43 107 0 ENST00000399018.1:c.336G>A p.Lys112= p.K112= ENST00000399018 112 aaG/aaA 0 -FERD3L UCSF GRCh37 7 19184684 19184684 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 46 82 0 ENST00000275461.3:c.302C>T p.Ala101Val p.A101V ENST00000275461 NM_152898.2 101 gCc/gTc 0 -FERMT3 UCSF GRCh37 11 63978082 63978082 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 56 150 0 ENST00000279227.5:c.161-1G>A p.X54_splice ENST00000279227 NM_178443.2 0 -FES UCSF GRCh37 15 91428447 91428447 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 63 40 103 0 ENST00000328850.3:c.172G>A p.Gly58Ser p.G58S ENST00000328850 NM_002005.3 58 Ggc/Agc 0 -FGF7 UCSF GRCh37 15 49716728 49716728 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 127 83 175 0 ENST00000267843.4:c.234G>A p.Arg78= p.R78= ENST00000267843 NM_002009.3 78 agG/agA 0 -FGFBP2 UCSF GRCh37 4 15964451 15964451 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 69 8 81 0 ENST00000259989.6:c.302G>A p.Arg101His p.R101H ENST00000259989 NM_031950.3 101 cGc/cAc 0 -FGGY UCSF GRCh37 1 60133032 60133032 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 130 205 0 ENST00000303721.7:c.1374C>T p.Leu458= p.L458= ENST00000303721 NM_018291.3 458 ctC/ctT 0 -FHOD1 UCSF GRCh37 16 67265109 67265109 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 28 69 0 ENST00000258201.4:c.2649C>T p.Ala883= p.A883= ENST00000258201 NM_013241.2 883 gcC/gcT 0 -FIBCD1 UCSF GRCh37 9 133799169 133799169 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 34 30 62 0 ENST00000372338.4:c.811G>A p.Val271Met p.V271M ENST00000372338 NM_032843.4 271 Gtg/Atg 0 -FICD UCSF GRCh37 12 108912289 108912289 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 64 166 0 ENST00000552695.1:c.414C>T p.Asp138= p.D138= ENST00000552695 NM_007076.2 138 gaC/gaT 0 -FIGF UCSF GRCh37 X 15365310 15365310 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 17 129 157 0 ENST00000297904.3:c.914A>G p.Lys305Arg p.K305R ENST00000297904 NM_004469.4 305 aAg/aGg 0 -FIGF UCSF GRCh37 X 15376203 15376203 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 25 139 150 0 ENST00000297904.3:c.414C>T p.Asn138= p.N138= ENST00000297904 NM_004469.4 138 aaC/aaT 0 -FIGNL1 UCSF GRCh37 7 50513387 50513387 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 163 142 226 0 ENST00000356889.4:c.1599A>G p.Thr533= p.T533= ENST00000356889 NM_001287495.1 533 acA/acG 0 -FITM2 UCSF GRCh37 20 42935488 42935488 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 50 109 0 ENST00000396825.3:c.566C>T p.Thr189Ile p.T189I ENST00000396825 NM_001080472.1 189 aCc/aTc 0 -FLG UCSF GRCh37 1 152276776 152276776 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 201 144 319 0 ENST00000368799.1:c.10586C>T p.Pro3529Leu p.P3529L ENST00000368799 NM_002016.1 3529 cCc/cTc 0 -FLJ43860 UCSF GRCh37 8 142517203 142517203 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 9 49 0 ENST00000430863.1:c.47G>A p.Gly16Asp p.G16D ENST00000430863 NM_207414.2 16 gGt/gAt 0 -FLNA UCSF GRCh37 X 153585643 153585643 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 3 33 32 0 ENST00000369850.3:c.4946-1G>A p.X1649_splice ENST00000369850 NM_001110556.1 0 -FLNB UCSF GRCh37 3 58135716 58135716 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Rec Untested WXS Illumina HiSeq 159 106 247 0 ENST00000295956.4:c.6231C>G p.Asp2077Glu p.D2077E ENST00000295956 NM_001457.3 2077 gaC/gaG 0 -FLNB UCSF GRCh37 3 58067382 58067382 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 129 90 175 0 ENST00000295956.4:c.666C>T p.His222= p.H222= ENST00000295956 NM_001457.3 222 caC/caT 0 -FLNC UCSF GRCh37 7 128485171 128485171 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 37 94 0 ENST00000325888.8:c.3652C>T p.Pro1218Ser p.P1218S ENST00000325888 NM_001458.4 1218 Cct/Tct 0 -FLT3LG UCSF GRCh37 19 49983734 49983734 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 15 24 0 ENST00000594009.1:c.660+1G>A p.X220_splice ENST00000594009 NM_001204503.1 0 -FLT4 UCSF GRCh37 5 180057073 180057073 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 34 21 62 0 ENST00000261937.6:c.546G>A p.Glu182= p.E182= ENST00000261937 NM_182925.4 182 gaG/gaA 0 -FLVCR1 UCSF GRCh37 1 213062556 213062556 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 82 136 0 ENST00000366971.4:c.1482C>T p.Asn494= p.N494= ENST00000366971 NM_014053.3 494 aaC/aaT 0 -FMO4 UCSF GRCh37 1 171310886 171310886 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 39 88 0 ENST00000367749.3:c.1585C>T p.Leu529Phe p.L529F ENST00000367749 NM_002022.1 529 Ctt/Ttt 0 -FMO5 UCSF GRCh37 1 146687361 146687361 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 74 198 0 ENST00000254090.4:c.287C>T p.Ala96Val p.A96V ENST00000254090 NM_001461.3 96 gCc/gTc 0 -FN1 UCSF GRCh37 2 216296570 216296570 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 137 112 218 0 ENST00000359671.1:c.533C>T p.Thr178Ile p.T178I ENST00000359671 178 aCc/aTc 0 -FNDC1 UCSF GRCh37 6 159642672 159642672 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 69 178 0 ENST00000297267.9:c.710C>T p.Ser237Phe p.S237F ENST00000297267 NM_032532.2 237 tCt/tTt 0 -FNDC1 UCSF GRCh37 6 159653946 159653946 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 45 115 0 ENST00000297267.9:c.2402C>T p.Ala801Val p.A801V ENST00000297267 NM_032532.2 801 gCg/gTg 0 -FOXA2 UCSF GRCh37 20 22564892 22564892 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 20 44 0 ENST00000377115.4:c.7G>A p.Gly3Arg p.G3R ENST00000377115 NM_153675.2 3 Gga/Aga 0 -FOXA2 UCSF GRCh37 20 22563629 22563629 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 19 63 0 ENST00000377115.4:c.233C>T p.Ala78Val p.A78V ENST00000377115 NM_153675.2 78 gCg/gTg 0 -FOXJ2 UCSF GRCh37 12 8203198 8203198 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 59 152 0 ENST00000162391.3:c.1618G>A p.Ala540Thr p.A540T ENST00000162391 NM_018416.2 540 Gca/Aca 0 -FREM1 UCSF GRCh37 9 14824818 14824818 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 81 190 0 ENST00000380880.3:c.2054C>T p.Pro685Leu p.P685L ENST00000380880 685 cCt/cTt 0 -FREM2 UCSF GRCh37 13 39264884 39264884 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 79 194 0 ENST00000280481.7:c.3403G>A p.Ala1135Thr p.A1135T ENST00000280481 NM_207361.4 1135 Gct/Act 0 -FRG2 UCSF GRCh37 4 190946914 190946914 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 62 207 0 ENST00000378763.1:c.639C>T p.Leu213= p.L213= ENST00000378763 NM_001005217.1 213 ctC/ctT 0 -FRMD4B UCSF GRCh37 3 69336917 69336917 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 52 81 0 ENST00000398540.3:c.487G>A p.Ala163Thr p.A163T ENST00000398540 NM_015123.1 163 Gcc/Acc 0 -FRMD5 UCSF GRCh37 15 44180383 44180383 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 49 112 0 ENST00000417257.1:c.874G>A p.Ala292Thr p.A292T ENST00000417257 NM_032892.3 292 Gcc/Acc 0 -FRYL UCSF GRCh37 4 48514613 48514613 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 111 74 179 0 ENST00000358350.4:c.8030C>T p.Pro2677Leu p.P2677L ENST00000358350 NM_015030.1 2677 cCc/cTc 0 -FSCB UCSF GRCh37 14 44974174 44974174 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 18 88 0 ENST00000340446.4:c.2017C>T p.Pro673Ser p.P673S ENST00000340446 NM_032135.3 673 Cca/Tca 0 -FSIP2 UCSF GRCh37 2 186665922 186665922 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 153 103 252 0 ENST00000424728.1:c.11889G>A p.Gln3963= p.Q3963= ENST00000424728 3963 caG/caA 0 -FTCD UCSF GRCh37 21 47575416 47575416 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 60 29 69 0 ENST00000291670.5:c.22G>A p.Val8Ile p.V8I ENST00000291670 NM_006657.2 8 Gtc/Atc 0 -FTSJD1 UCSF GRCh37 16 71318179 71318179 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 47 122 0 ENST00000338099.5:c.1645G>A p.Val549Ile p.V549I ENST00000338099 549 Gtt/Att 0 -FTSJD1 UCSF GRCh37 16 71318132 71318132 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 81 45 132 0 ENST00000338099.5:c.1692G>A p.Glu564= p.E564= ENST00000338099 564 gaG/gaA 0 -FUBP3 UCSF GRCh37 9 133506129 133506129 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 50 91 0 ENST00000319725.9:c.1232C>T p.Pro411Leu p.P411L ENST00000319725 NM_003934.1 411 cCc/cTc 0 -FZD6 UCSF GRCh37 8 104337348 104337348 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 177 137 246 0 ENST00000358755.4:c.1014G>A p.Leu338= p.L338= ENST00000358755 NM_001164616.1 338 ctG/ctA 0 -FZD8 UCSF GRCh37 10 35928730 35928730 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 14 77 0 ENST00000374694.1:c.1628C>T p.Pro543Leu p.P543L ENST00000374694 NM_031866.2 543 cCc/cTc 0 -FZD9 UCSF GRCh37 7 72849769 72849769 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 57 39 95 0 ENST00000344575.3:c.1432C>T p.Leu478Phe p.L478F ENST00000344575 NM_003508.2 478 Ctt/Ttt 0 -G2E3 UCSF GRCh37 14 31061611 31061611 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 80 117 0 ENST00000206595.6:c.320G>A p.Gly107Glu p.G107E ENST00000206595 NM_017769.3 107 gGa/gAa 0 -G3BP1 UCSF GRCh37 5 151176891 151176891 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 61 148 0 ENST00000356245.3:c.643C>T p.Pro215Ser p.P215S ENST00000356245 NM_005754.2 215 Cct/Tct 0 -G3BP1 UCSF GRCh37 5 151176792 151176792 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 54 79 0 ENST00000356245.3:c.544G>A p.Asp182Asn p.D182N ENST00000356245 NM_005754.2 182 Gac/Aac 0 -GABARAP UCSF GRCh37 17 7144983 7144983 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 101 89 185 0 ENST00000302386.5:c.106G>A p.Ala36Thr p.A36T ENST00000302386 NM_007278.1 36 Gct/Act 0 -GABBR2 UCSF GRCh37 9 101304178 101304178 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 47 120 0 ENST00000259455.2:c.607C>T p.Gln203Ter p.Q203* ENST00000259455 NM_005458.7 203 Caa/Taa 0 -GABPA UCSF GRCh37 21 27136631 27136631 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 62 183 0 ENST00000354828.3:c.913G>A p.Glu305Lys p.E305K ENST00000354828 NM_001197297.1 305 Gaa/Aaa 0 -GABRA4 UCSF GRCh37 4 46930490 46930490 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 134 98 266 1 ENST00000264318.3:c.1417G>A p.Ala473Thr p.A473T ENST00000264318 NM_000809.3 473 Gct/Act 0 -GABRB1 UCSF GRCh37 4 47163377 47163377 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 170 144 306 0 ENST00000295454.3:c.352G>A p.Val118Ile p.V118I ENST00000295454 NM_000812.3 118 Gta/Ata 0 -GABRB3 UCSF GRCh37 15 26812804 26812804 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 58 160 0 ENST00000311550.5:c.759C>T p.Pro253= p.P253= ENST00000311550 NM_000814.5 253 ccC/ccT 0 -GABRR3 UCSF GRCh37 3 97720581 97720581 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 87 63 130 0 ENST00000472788.1:c.785T>C p.Val262Ala p.V262A ENST00000472788 NM_001105580.2 262 gTg/gCg 0 -GAL3ST2 UCSF GRCh37 2 242743054 242743054 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 7 15 0 ENST00000192314.6:c.670G>A p.Val224Met p.V224M ENST00000192314 NM_022134.2 224 Gtg/Atg 0 -GALNT1 UCSF GRCh37 18 33271053 33271053 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 177 145 263 0 ENST00000269195.5:c.1056C>T p.Tyr352= p.Y352= ENST00000269195 NM_020474.3 352 taC/taT 0 -GALNT4 UCSF GRCh37 12 89917070 89917070 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 114 216 0 ENST00000529983.2:c.1257G>A p.Leu419= p.L419= ENST00000529983 NM_003774.4 419 ttG/ttA 0 -GALNT5 UCSF GRCh37 2 158115847 158115847 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 77 212 0 ENST00000259056.4:c.1253G>A p.Ser418Asn p.S418N ENST00000259056 NM_014568.1 418 aGt/aAt 0 -GALNT7 UCSF GRCh37 4 174225262 174225262 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 60 147 0 ENST00000265000.4:c.1382C>T p.Thr461Ile p.T461I ENST00000265000 NM_017423.2 461 aCt/aTt 0 -GAPDHS UCSF GRCh37 19 36034723 36034723 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 37 29 65 0 ENST00000222286.4:c.1050G>A p.Glu350= p.E350= ENST00000222286 NM_014364.4 350 gaG/gaA 0 -GAPVD1 UCSF GRCh37 9 128099513 128099513 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 57 133 0 ENST00000394104.2:c.2520G>A p.Val840= p.V840= ENST00000394104 NM_001282679.1 840 gtG/gtA 0 -GARNL3 UCSF GRCh37 9 130098462 130098462 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 51 137 0 ENST00000373387.4:c.929G>A p.Gly310Glu p.G310E ENST00000373387 NM_032293.4 310 gGa/gAa 0 -GARNL3 UCSF GRCh37 9 130149546 130149546 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 61 130 0 ENST00000373387.4:c.2463C>T p.Ala821= p.A821= ENST00000373387 NM_032293.4 821 gcC/gcT 0 -GAS6 UCSF GRCh37 13 114542772 114542772 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 55 129 0 ENST00000327773.6:c.395C>T p.Ala132Val p.A132V ENST00000327773 NM_000820.2 132 gCc/gTc 0 -GBP3 UCSF GRCh37 1 89476628 89476628 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 21 183 186 0 ENST00000370481.4:c.1321C>T p.Leu441= p.L441= ENST00000370481 NM_018284.2 441 Ctg/Ttg 0 -GDAP2 UCSF GRCh37 1 118420712 118420712 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 57 130 0 ENST00000369443.5:c.1365G>A p.Val455= p.V455= ENST00000369443 NM_017686.3 455 gtG/gtA 0 -GDF15 UCSF GRCh37 19 18499125 18499125 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 14 33 0 ENST00000252809.3:c.307C>T p.Leu103= p.L103= ENST00000252809 NM_004864.2 103 Ctg/Ttg 0 -GDF2 UCSF GRCh37 10 48416610 48416610 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 26 18 56 0 ENST00000249598.1:c.84G>A p.Trp28Ter p.W28* ENST00000249598 NM_016204.1 28 tgG/tgA 0 -GFM2 UCSF GRCh37 5 74034354 74034354 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 86 62 161 0 ENST00000296805.3:c.1193C>T p.Ala398Val p.A398V ENST00000296805 NM_032380.4 398 gCc/gTc 0 -GGA1 UCSF GRCh37 22 38028003 38028003 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 29 88 0 ENST00000343632.4:c.1529G>A p.Ser510Asn p.S510N ENST00000343632 NM_013365.4 510 aGc/aAc 0 -GGA3 UCSF GRCh37 17 73238537 73238537 + 3_prime_UTR_variant 3'UTR SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 143 112 232 0 ENST00000537686.1:c.*61G>A *21* ENST00000537686 0 -GGCX UCSF GRCh37 2 85778691 85778691 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 111 77 185 0 ENST00000233838.4:c.1652C>T p.Thr551Ile p.T551I ENST00000233838 NM_000821.5 551 aCt/aTt 0 -GGCX UCSF GRCh37 2 85780478 85780478 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 83 184 0 ENST00000233838.4:c.1032G>A p.Val344= p.V344= ENST00000233838 NM_000821.5 344 gtG/gtA 0 -GHDC UCSF GRCh37 17 40344541 40344541 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 101 83 177 0 ENST00000301671.8:c.607G>A p.Ala203Thr p.A203T ENST00000301671 203 Gct/Act 0 -GHDC UCSF GRCh37 17 40342239 40342239 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 82 175 0 ENST00000301671.8:c.1338G>A p.Arg446= p.R446= ENST00000301671 446 agG/agA 0 -GIMAP8 UCSF GRCh37 7 150171727 150171727 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 58 132 0 ENST00000307271.3:c.1309+1G>A p.X437_splice ENST00000307271 NM_175571.2 0 -GIP UCSF GRCh37 17 47038273 47038273 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 10 21 0 ENST00000357424.2:c.427G>A p.Asp143Asn p.D143N ENST00000357424 NM_004123.2 143 Gat/Aat 0 -GIT2 UCSF GRCh37 12 110405292 110405292 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 63 136 0 ENST00000355312.3:c.735G>A p.Gln245= p.Q245= ENST00000355312 NM_057169.3 245 caG/caA 0 -GJA5 UCSF GRCh37 1 147230420 147230420 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 89 186 0 ENST00000271348.2:c.927G>A p.Gly309= p.G309= ENST00000271348 NM_005266.6 309 ggG/ggA 0 -GJB6 UCSF GRCh37 13 20796987 20796987 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 56 130 0 ENST00000241124.6:c.633C>T p.Cys211= p.C211= ENST00000241124 NM_006783.4 211 tgC/tgT 0 -GLI2 UCSF GRCh37 2 121747119 121747119 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 15 31 0 ENST00000361492.4:c.3629G>A p.Gly1210Glu p.G1210E ENST00000361492 NM_005270.4 1210 gGa/gAa 0 -GLOD5 UCSF GRCh37 X 48631750 48631750 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 125 110 0 ENST00000303227.6:c.382G>A p.Gly128Arg p.G128R ENST00000303227 NM_001080489.2 128 Ggg/Agg 0 -GLS2 UCSF GRCh37 12 56866533 56866533 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 90 199 0 ENST00000311966.4:c.1452C>T p.Asn484= p.N484= ENST00000311966 NM_001280797.1 484 aaC/aaT 0 -GLT25D1 UCSF GRCh37 19 17691630 17691630 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 23 83 0 ENST00000252599.4:c.1517C>T p.Ala506Val p.A506V ENST00000252599 NM_024656.2 506 gCc/gTc 0 -GLT25D1 UCSF GRCh37 19 17688209 17688209 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 7 9 0 ENST00000252599.4:c.1066G>A p.Glu356Lys p.E356K ENST00000252599 NM_024656.2 356 Gag/Aag 0 -GLT6D1 UCSF GRCh37 9 138516249 138516249 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 59 119 0 ENST00000371763.1:c.525C>T p.Asn175= p.N175= ENST00000371763 NM_182974.2 175 aaC/aaT 0 -GNAI3 UCSF GRCh37 1 110116530 110116530 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 83 182 0 ENST00000369851.4:c.174G>A p.Glu58= p.E58= ENST00000369851 NM_006496.3 58 gaG/gaA 0 -GNB2 UCSF GRCh37 7 100275839 100275839 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 96 161 0 ENST00000303210.4:c.616G>A p.Ala206Thr p.A206T ENST00000303210 NM_005273.3 206 Gcc/Acc 0 -GNG2 UCSF GRCh37 14 52433376 52433376 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 145 94 216 0 ENST00000335281.4:c.187G>A p.Glu63Lys p.E63K ENST00000335281 NM_001243774.1 63 Gag/Aag 0 -GNL1 UCSF GRCh37 6 30514932 30514932 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 50 124 0 ENST00000376621.3:c.1398C>T p.Asp466= p.D466= ENST00000376621 NM_005275.3 466 gaC/gaT 0 -GNL3L UCSF GRCh37 X 54570681 54570681 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 4 19 33 0 ENST00000336470.4:c.552G>A p.Glu184= p.E184= ENST00000336470 NM_019067.5 184 gaG/gaA 0 -GNPAT UCSF GRCh37 1 231386751 231386751 + synonymous_variant Silent SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 119 97 178 0 ENST00000366647.4:c.123G>A p.Glu41= p.E41= ENST00000366647 NM_014236.3 41 gaG/gaA 0 -GON4L UCSF GRCh37 1 155735038 155735038 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 151 121 263 0 ENST00000368331.1:c.4226G>A p.Gly1409Glu p.G1409E ENST00000368331 NM_001037533.1 1409 gGa/gAa 0 -GOT1L1 UCSF GRCh37 8 37796328 37796328 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 86 192 0 ENST00000307599.4:c.187G>A p.Asp63Asn p.D63N ENST00000307599 NM_152413.2 63 Gat/Aat 0 -GP1BA UCSF GRCh37 17 4836177 4836177 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 95 187 0 ENST00000329125.5:c.278C>T p.Pro93Leu p.P93L ENST00000329125 NM_000173.5 93 cCa/cTa 0 -GPAA1 UCSF GRCh37 8 145138941 145138941 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 70 104 0 ENST00000355091.4:c.614C>T p.Thr205Ile p.T205I ENST00000355091 NM_003801.3 205 aCt/aTt 0 -GPATCH1 UCSF GRCh37 19 33608917 33608917 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 56 128 0 ENST00000170564.2:c.2383G>A p.Asp795Asn p.D795N ENST00000170564 NM_018025.2 795 Gac/Aac 0 -GPATCH3 UCSF GRCh37 1 27217646 27217646 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 51 43 79 0 ENST00000361720.5:c.1433C>T p.Ser478Phe p.S478F ENST00000361720 NM_022078.2 478 tCc/tTc 0 -GPC5 UCSF GRCh37 13 92345775 92345775 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 34 113 0 ENST00000377067.3:c.660G>A p.Leu220= p.L220= ENST00000377067 NM_004466.4 220 ctG/ctA 0 -GPR108 UCSF GRCh37 19 6734315 6734315 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 15 36 0 ENST00000264080.7:c.378C>T p.Val126= p.V126= ENST00000264080 NM_001080452.1 126 gtC/gtT 0 -GPR112 UCSF GRCh37 X 135432197 135432197 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 106 112 0 ENST00000370652.1:c.6332C>T p.Thr2111Ile p.T2111I ENST00000370652 2111 aCc/aTc 0 -GPR113 UCSF GRCh37 2 26534502 26534502 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 73 101 0 ENST00000311519.1:c.2094C>T p.Ser698= p.S698= ENST00000311519 NM_001145168.1 698 agC/agT 0 -GPR116 UCSF GRCh37 6 46839599 46839599 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 126 99 197 0 ENST00000265417.7:c.1392A>G p.Lys464= p.K464= ENST00000265417 NM_015234.4 464 aaA/aaG 0 -GPR125 UCSF GRCh37 4 22446699 22446699 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 45 117 0 ENST00000334304.5:c.603G>A p.Trp201Ter p.W201* ENST00000334304 NM_145290.3 201 tgG/tgA 0 -GPR158 UCSF GRCh37 10 25701324 25701324 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 338 108 265 0 ENST00000376351.3:c.1257C>T p.Ala419= p.A419= ENST00000376351 NM_020752.2 419 gcC/gcT 0 -GPR179 UCSF GRCh37 17 36499172 36499172 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 62 143 0 ENST00000342292.4:c.501C>T p.Thr167= p.T167= ENST00000342292 NM_001004334.2 167 acC/acT 0 -GPR26 UCSF GRCh37 10 125426578 125426578 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Rec Untested WXS Illumina HiSeq 14 9 31 0 ENST00000284674.1:c.655G>T p.Asp219Tyr p.D219Y ENST00000284674 NM_153442.3 219 Gac/Tac 0 -GPR32 UCSF GRCh37 19 51274536 51274536 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 86 54 120 0 ENST00000270590.4:c.679G>A p.Gly227Arg p.G227R ENST00000270590 NM_001506.2 227 Ggg/Agg 0 -GPR35 UCSF GRCh37 2 241569429 241569429 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 43 96 0 ENST00000319838.5:c.60G>A p.Lys20= p.K20= ENST00000319838 NM_001195381.1 20 aaG/aaA 0 -GPR37 UCSF GRCh37 7 124404799 124404799 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 26 51 0 ENST00000303921.2:c.232G>A p.Ala78Thr p.A78T ENST00000303921 NM_005302.3 78 Gca/Aca 0 -GPR56 UCSF GRCh37 16 57687213 57687213 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 23 17 41 0 ENST00000567835.1:c.586G>A p.Ala196Thr p.A196T ENST00000567835 196 Gcc/Acc 0 -GPR56 UCSF GRCh37 16 57693441 57693441 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 48 110 0 ENST00000567835.1:c.1421G>A p.Gly474Asp p.G474D ENST00000567835 474 gGc/gAc 0 -GPR64 UCSF GRCh37 X 19028836 19028836 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 115 132 0 ENST00000379869.3:c.1160C>T p.Ala387Val p.A387V ENST00000379869 NM_001079858.2 387 gCt/gTt 0 -GPR82 UCSF GRCh37 X 41586742 41586742 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 96 97 0 ENST00000302548.4:c.463C>T p.Leu155= p.L155= ENST00000302548 NM_080817.4 155 Cta/Tta 0 -GPR98 UCSF GRCh37 5 90083954 90083954 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 140 94 198 0 ENST00000405460.2:c.13720G>A p.Asp4574Asn p.D4574N ENST00000405460 NM_032119.3 4574 Gac/Aac 0 -GPRIN1 UCSF GRCh37 5 176025149 176025149 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 90 193 0 ENST00000303991.4:c.1687C>T p.Pro563Ser p.P563S ENST00000303991 NM_052899.2 563 Ccc/Tcc 0 -GPS1 UCSF GRCh37 17 80010317 80010317 + intron_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 19 34 0 ENST00000306823.6:c.33+477C>T *11* ENST00000306823 0 -GPSM1 UCSF GRCh37 9 139252516 139252516 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 19 51 0 ENST00000440944.1:c.1872G>A p.Arg624= p.R624= ENST00000440944 NM_001145638.2 624 cgG/cgA 0 -GPX3 UCSF GRCh37 5 150407620 150407620 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 23 72 0 ENST00000388825.4:c.610G>A p.Val204Ile p.V204I ENST00000388825 NM_002084.3 204 Gtc/Atc 0 -GPX8 UCSF GRCh37 5 54456129 54456129 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 150 81 189 0 ENST00000503787.1:c.109C>T p.Leu37= p.L37= ENST00000503787 NM_001008397.2 37 Cta/Tta 0 -GREB1L UCSF GRCh37 18 18983857 18983857 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 175 141 316 0 ENST00000424526.1:c.734C>T p.Ala245Val p.A245V ENST00000424526 NM_001142966.1 245 gCt/gTt 0 -GREB1L UCSF GRCh37 18 19080545 19080545 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 19 42 0 ENST00000424526.1:c.4014C>T p.Phe1338= p.F1338= ENST00000424526 NM_001142966.1 1338 ttC/ttT 0 -GRID1 UCSF GRCh37 10 87966175 87966175 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 44 99 0 ENST00000327946.7:c.466C>T p.Leu156= p.L156= ENST00000327946 NM_017551.2 156 Ctg/Ttg 0 -GRIK5 UCSF GRCh37 19 42558519 42558519 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 35 82 0 ENST00000262895.3:c.1009G>A p.Ala337Thr p.A337T ENST00000262895 NM_002088.4 337 Gcc/Acc 0 -GRIN2A UCSF GRCh37 16 9858036 9858036 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 231 95 200 0 ENST00000330684.3:c.3365G>A p.Gly1122Asp p.G1122D ENST00000330684 NM_001134407.1 1122 gGt/gAt 0 -GRIN2A UCSF GRCh37 16 9923338 9923338 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 206 80 173 0 ENST00000330684.3:c.1949C>T p.Ala650Val p.A650V ENST00000330684 NM_001134407.1 650 gCt/gTt 0 -GRIN2C UCSF GRCh37 17 72848181 72848181 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 10 16 0 ENST00000293190.5:c.969C>T p.Pro323= p.P323= ENST00000293190 NM_000835.4 323 ccC/ccT 0 -GRIN3A UCSF GRCh37 9 104499668 104499668 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 43 123 0 ENST00000361820.3:c.594C>T p.Ala198= p.A198= ENST00000361820 NM_133445.2 198 gcC/gcT 0 -GRK6 UCSF GRCh37 5 176862108 176862108 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 19 54 0 ENST00000355472.5:c.1043C>T p.Thr348Ile p.T348I ENST00000355472 NM_002082.3 348 aCc/aTc 0 -GRK7 UCSF GRCh37 3 141497563 141497563 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 49 104 0 ENST00000264952.2:c.437C>T p.Ala146Val p.A146V ENST00000264952 NM_139209.2 146 gCa/gTa 0 -GSDMD UCSF GRCh37 8 144642028 144642028 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 23 56 0 ENST00000262580.4:c.299G>A p.Gly100Glu p.G100E ENST00000262580 NM_024736.6 100 gGa/gAa 0 -GTDC1 UCSF GRCh37 2 144714815 144714815 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 63 153 0 ENST00000344850.4:c.1077C>T p.Cys359= p.C359= ENST00000344850 359 tgC/tgT 0 -GTF2B UCSF GRCh37 1 89353037 89353037 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 171 129 260 0 ENST00000370500.5:c.31C>T p.Pro11Ser p.P11S ENST00000370500 NM_001514.5 11 Cca/Tca 0 -GTF2E2 UCSF GRCh37 8 30437797 30437797 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 183 125 284 0 ENST00000355904.4:c.759+1G>A p.X253_splice ENST00000355904 NM_002095.4 0 -GTF2F1 UCSF GRCh37 19 6380678 6380678 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 43 90 0 ENST00000394456.5:c.1255G>A p.Ala419Thr p.A419T ENST00000394456 NM_002096.2 419 Gca/Aca 0 -GTF2IRD1 UCSF GRCh37 7 73973225 73973225 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 42 95 0 ENST00000265755.3:c.2187C>T p.Val729= p.V729= ENST00000265755 NM_005685.3 729 gtC/gtT 0 -GTF3C2 UCSF GRCh37 2 27551736 27551736 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 54 93 0 ENST00000264720.3:c.2102C>T p.Thr701Ile p.T701I ENST00000264720 NM_001035521.2 701 aCt/aTt 0 -GYG1 UCSF GRCh37 3 148744574 148744574 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 61 152 0 ENST00000345003.4:c.907C>T p.Leu303= p.L303= ENST00000345003 NM_004130.3 303 Ctg/Ttg 0 -GYS1 UCSF GRCh37 19 49494637 49494637 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 93 159 0 ENST00000323798.3:c.222G>A p.Arg74= p.R74= ENST00000323798 NM_002103.4 74 agG/agA 0 -GZMA UCSF GRCh37 5 54404196 54404196 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 69 165 0 ENST00000274306.6:c.601C>T p.Leu201Phe p.L201F ENST00000274306 NM_006144.3 201 Ctc/Ttc 0 -GZMH UCSF GRCh37 14 25076612 25076612 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 26 71 0 ENST00000216338.4:c.340C>T p.Leu114= p.L114= ENST00000216338 NM_033423.4 114 Ctg/Ttg 0 -HAS1 UCSF GRCh37 19 52217087 52217087 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 13 30 0 ENST00000222115.1:c.1330G>A p.Ala444Thr p.A444T ENST00000222115 NM_001523.2 444 Gcc/Acc 0 -HAT1 UCSF GRCh37 2 172803277 172803277 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 74 158 0 ENST00000264108.4:c.162G>A p.Glu54= p.E54= ENST00000264108 NM_003642.3 54 gaG/gaA 0 -HBQ1 UCSF GRCh37 16 230818 230818 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 7 12 0 ENST00000199708.2:c.249G>A p.Ala83= p.A83= ENST00000199708 NM_005331.4 83 gcG/gcA 0 -HCK UCSF GRCh37 20 30674508 30674508 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 31 72 0 ENST00000534862.1:c.853G>A p.Glu285Lys p.E285K ENST00000534862 NM_001172132.1 285 Gag/Aag 0 -HCN4 UCSF GRCh37 15 73617356 73617356 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 64 111 0 ENST00000261917.3:c.1918G>A p.Val640Ile p.V640I ENST00000261917 NM_005477.2 640 Gtc/Atc 0 -HCRTR1 UCSF GRCh37 1 32087185 32087185 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 65 160 0 ENST00000373706.5:c.730G>A p.Gly244Ser p.G244S ENST00000373706 244 Ggc/Agc 0 -HDAC3 UCSF GRCh37 5 141004869 141004869 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 207 138 295 0 ENST00000305264.3:c.1123G>A p.Val375Ile p.V375I ENST00000305264 NM_003883.3 375 Gtc/Atc 0 -HDGFL2 UCSF GRCh37 19 4499544 4499544 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 19 53 0 ENST00000301284.4:c.1632C>T p.Thr544= p.T544= ENST00000301284 NM_001001520.1 544 acC/acT 0 -HEATR1 UCSF GRCh37 1 236744649 236744649 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 196 124 244 0 ENST00000366582.3:c.2628C>T p.Ser876= p.S876= ENST00000366582 NM_018072.5 876 agC/agT 0 -HEATR5B UCSF GRCh37 2 37235830 37235830 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 95 201 0 ENST00000233099.5:c.4446C>T p.Arg1482= p.R1482= ENST00000233099 NM_019024.1 1482 cgC/cgT 0 -HEATR8 UCSF GRCh37 1 55145099 55145099 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 32 23 73 0 ENST00000421030.2:c.2213G>A p.Arg738Lys p.R738K ENST00000421030 NM_001039464.2 738 aGg/aAg 0 -HEG1 UCSF GRCh37 3 124731715 124731715 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 161 130 305 0 ENST00000311127.4:c.2708G>A p.Arg903Lys p.R903K ENST00000311127 NM_020733.1 903 aGg/aAg 0 -HEG1 UCSF GRCh37 3 124746251 124746251 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 131 73 162 0 ENST00000311127.4:c.711G>A p.Glu237= p.E237= ENST00000311127 NM_020733.1 237 gaG/gaA 0 -HEG1 UCSF GRCh37 3 124692647 124692647 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 185 158 283 0 ENST00000311127.4:c.3924C>T p.Gly1308= p.G1308= ENST00000311127 NM_020733.1 1308 ggC/ggT 0 -HELZ UCSF GRCh37 17 65144795 65144795 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 186 106 290 0 ENST00000358691.5:c.2511G>A p.Glu837= p.E837= ENST00000358691 NM_014877.3 837 gaG/gaA 0 -HEMGN UCSF GRCh37 9 100693034 100693034 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 200 191 371 0 ENST00000259456.3:c.643C>T p.Pro215Ser p.P215S ENST00000259456 NM_018437.4 215 Cct/Tct 0 -HEMGN UCSF GRCh37 9 100692353 100692353 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 144 124 229 0 ENST00000259456.3:c.1324C>T p.Gln442Ter p.Q442* ENST00000259456 NM_018437.4 442 Cag/Tag 0 -HEPACAM UCSF GRCh37 11 124793894 124793894 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 18 40 0 ENST00000298251.4:c.440G>A p.Arg147Lys p.R147K ENST00000298251 NM_152722.4 147 aGg/aAg 0 -HERC2 UCSF GRCh37 15 28412840 28412840 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 103 203 0 ENST00000261609.7:c.10547C>T p.Thr3516Ile p.T3516I ENST00000261609 NM_004667.5 3516 aCc/aTc 0 -HERC2 UCSF GRCh37 15 28518093 28518093 + synonymous_variant Silent SNP C C T snp132_rs59154112 P18_Rec Untested WXS Illumina HiSeq 73 32 83 0 ENST00000261609.7:c.858G>A p.Gln286= p.Q286= ENST00000261609 NM_004667.5 286 caG/caA 0 -HERC2 UCSF GRCh37 15 28482229 28482229 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 94 284 0 ENST00000261609.7:c.3883C>T p.Leu1295= p.L1295= ENST00000261609 NM_004667.5 1295 Ctg/Ttg 0 -HESX1 UCSF GRCh37 3 57232851 57232851 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 287 188 402 0 ENST00000295934.3:c.287G>A p.Arg96Lys p.R96K ENST00000295934 NM_003865.2 96 aGa/aAa 0 -HFM1 UCSF GRCh37 1 91788756 91788756 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 96 242 0 ENST00000370425.3:c.2428G>A p.Val810Ile p.V810I ENST00000370425 NM_001017975.3 810 Gtt/Att 0 -HGF UCSF GRCh37 7 81374400 81374400 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 54 135 0 ENST00000222390.5:c.662G>A p.Gly221Asp p.G221D ENST00000222390 NM_000601.4 221 gGt/gAt 0 -HHIP UCSF GRCh37 4 145659036 145659036 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 121 232 0 ENST00000296575.3:c.2030C>T p.Thr677Ile p.T677I ENST00000296575 NM_022475.2 677 aCc/aTc 0 -HIATL1 UCSF GRCh37 9 97221478 97221478 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 86 176 0 ENST00000375344.3:c.1305G>A p.Gly435= p.G435= ENST00000375344 NM_032558.2 435 ggG/ggA 0 -HIPK2 UCSF GRCh37 7 139257685 139257685 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 14 25 0 ENST00000406875.3:c.3585C>T p.Tyr1195= p.Y1195= ENST00000406875 NM_022740.4 1195 taC/taT 0 -HIVEP1 UCSF GRCh37 6 12122847 12122847 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Rec Untested WXS Illumina HiSeq 53 40 112 0 ENST00000379388.2:c.2819T>A p.Leu940Gln p.L940Q ENST00000379388 NM_002114.2 940 cTg/cAg 0 -HIVEP3 UCSF GRCh37 1 42049788 42049788 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 55 119 0 ENST00000247584.5:c.681C>T p.Phe227= p.F227= ENST00000247584 227 ttC/ttT 0 -HKDC1 UCSF GRCh37 10 71018671 71018671 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 58 44 95 0 ENST00000354624.5:c.2172C>T p.Tyr724= p.Y724= ENST00000354624 NM_025130.3 724 taC/taT 0 -HLA-C UCSF GRCh37 6 31238956 31238956 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 10 94 0 ENST00000376228.5:c.513G>A p.Leu171= p.L171= ENST00000376228 NM_002117.5 171 ttG/ttA 0 -HLA-DQA1 UCSF GRCh37 6 32609823 32609823 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 18 38 52 0 ENST00000343139.5:c.406G>A p.Asp136Asn p.D136N ENST00000343139 NM_002122.3 136 Gac/Aac 0 -HLA-DQA2 UCSF GRCh37 6 32713642 32713642 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 276 45 352 0 ENST00000374940.3:c.406G>A p.Asp136Asn p.D136N ENST00000374940 NM_020056.4 136 Gac/Aac 0 -HLA-DRA UCSF GRCh37 6 32411128 32411128 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 111 207 0 ENST00000395388.2:c.495G>A p.Arg165= p.R165= ENST00000395388 NM_019111.4 165 agG/agA 0 -HLA-DRB5 UCSF GRCh37 6 32489786 32489786 + missense_variant Missense_Mutation SNP T T G 1000g2010nov_all_0.101,1000g2011may_all_0.1594,snp132_rs41541218 P18_Rec Untested WXS Illumina HiSeq 44 8 58 1 ENST00000374975.3:c.266A>C p.Tyr89Ser p.Y89S ENST00000374975 NM_002125.3 89 tAc/tCc 0 -HLA-DRB5 UCSF GRCh37 6 32489806 32489806 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.029,snp132_rs1059349 P18_Rec Untested WXS Illumina HiSeq 56 8 64 1 ENST00000374975.3:c.246G>A p.Leu82= p.L82= ENST00000374975 NM_002125.3 82 ctG/ctA 0 -HMCN1 UCSF GRCh37 1 186026477 186026477 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 86 204 0 ENST00000271588.4:c.7256C>T p.Thr2419Ile p.T2419I ENST00000271588 NM_031935.2 2419 aCc/aTc 0 -HMCN1 UCSF GRCh37 1 186136014 186136014 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 68 149 0 ENST00000271588.4:c.15514C>T p.Arg5172Cys p.R5172C ENST00000271588 NM_031935.2 5172 Cgc/Tgc 0 -HMCN1 UCSF GRCh37 1 186084079 186084079 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 167 139 266 0 ENST00000271588.4:c.11404+1G>A p.X3802_splice ENST00000271588 NM_031935.2 0 -HMGB1 UCSF GRCh37 13 31036689 31036689 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 218 118 345 0 ENST00000339872.4:c.457G>A p.Glu153Lys p.E153K ENST00000339872 153 Gaa/Aaa 0 -HMX2 UCSF GRCh37 10 124909357 124909357 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 26 43 0 ENST00000339992.3:c.540C>T p.Ala180= p.A180= ENST00000339992 NM_005519.1 180 gcC/gcT 0 -HN1L UCSF GRCh37 16 1741846 1741846 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 88 84 0 ENST00000248098.3:c.196G>A p.Gly66Ser p.G66S ENST00000248098 NM_144570.2 66 Ggt/Agt 0 -HNF1A UCSF GRCh37 12 121432194 121432194 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Rec Untested WXS Illumina HiSeq 10 12 23 0 ENST00000257555.6:c.941C>G p.Pro314Arg p.P314R ENST00000257555 314 cCc/cGc 0 -HNRNPC UCSF GRCh37 14 21699190 21699190 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 155 113 237 0 ENST00000420743.2:c.283G>A p.Ala95Thr p.A95T ENST00000420743 95 Gca/Aca 0 -HNRNPR UCSF GRCh37 1 23640128 23640128 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 65 180 0 ENST00000302271.6:c.1085C>T p.Ser362Phe p.S362F ENST00000302271 362 tCt/tTt 0 -HNRNPR UCSF GRCh37 1 23664278 23664278 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 150 83 182 0 ENST00000302271.6:c.353C>T p.Ser118Phe p.S118F ENST00000302271 118 tCc/tTc 0 -HNRNPU UCSF GRCh37 1 245021312 245021312 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 57 52 100 0 ENST00000283179.9:c.1494+1G>A p.X498_splice ENST00000283179 0 -HOMER1 UCSF GRCh37 5 78746835 78746835 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 60 140 0 ENST00000334082.6:c.272C>T p.Ser91Phe p.S91F ENST00000334082 NM_004272.4 91 tCc/tTc 0 -HOXA11 UCSF GRCh37 7 27224621 27224621 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 51 134 0 ENST00000006015.3:c.143C>T p.Ser48Phe p.S48F ENST00000006015 NM_005523.5 48 tCc/tTc 0 -HOXA3 UCSF GRCh37 7 27147692 27147692 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 35 81 0 ENST00000317201.2:c.1174G>A p.Ala392Thr p.A392T ENST00000317201 NM_153631.2 392 Gcc/Acc 0 -HOXD3 UCSF GRCh37 2 177036434 177036434 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 75 45 146 0 ENST00000249440.3:c.731A>G p.Asn244Ser p.N244S ENST00000249440 NM_006898.4 244 aAc/aGc 0 -HOXD9 UCSF GRCh37 2 176988780 176988780 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 148 98 224 0 ENST00000249499.6:c.936G>A p.Arg312= p.R312= ENST00000249499 NM_014213.3 312 cgG/cgA 0 -HP1BP3 UCSF GRCh37 1 21097494 21097494 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 82 134 0 ENST00000312239.5:c.583G>A p.Glu195Lys p.E195K ENST00000312239 NM_016287.3 195 Gag/Aag 0 -HPD UCSF GRCh37 12 122281701 122281701 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 68 124 0 ENST00000289004.4:c.869C>T p.Ser290Phe p.S290F ENST00000289004 NM_002150.2 290 tCt/tTt 0 -HPN UCSF GRCh37 19 35556509 35556509 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 60 108 0 ENST00000262626.2:c.974C>T p.Ala325Val p.A325V ENST00000262626 NM_182983.2 325 gCt/gTt 0 -HS3ST5 UCSF GRCh37 6 114378655 114378655 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 61 143 0 ENST00000312719.5:c.807G>A p.Val269= p.V269= ENST00000312719 269 gtG/gtA 0 -HS6ST1 UCSF GRCh37 2 129026197 129026197 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 22 94 0 ENST00000259241.6:c.775C>T p.Leu259= p.L259= ENST00000259241 NM_004807.2 259 Ctg/Ttg 0 -HSD17B1 UCSF GRCh37 17 40706695 40706695 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 27 24 47 0 ENST00000585807.1:c.726C>T p.Leu242= p.L242= ENST00000585807 NM_000413.2 242 ctC/ctT 0 -HSD3B1 UCSF GRCh37 1 120057019 120057019 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 108 210 0 ENST00000369413.3:c.873G>A p.Met291Ile p.M291I ENST00000369413 291 atG/atA 0 -HSDL2 UCSF GRCh37 9 115179137 115179137 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 63 50 106 0 ENST00000398805.3:c.412C>T p.Pro138Ser p.P138S ENST00000398805 NM_032303.4 138 Cct/Tct 0 -HSF4 UCSF GRCh37 16 67202963 67202963 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 28 82 0 ENST00000264009.8:c.1213C>T p.Arg405Ter p.R405* ENST00000264009 NM_001040667.2 405 Cga/Tga 0 -HSPA1A UCSF GRCh37 6 31785229 31785229 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 41 121 0 ENST00000375651.5:c.1696G>A p.Asp566Asn p.D566N ENST00000375651 NM_005345.5 566 Gac/Aac 0 -HSPA2 UCSF GRCh37 14 65008270 65008270 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 54 112 0 ENST00000247207.6:c.703G>A p.Asp235Asn p.D235N ENST00000247207 NM_021979.3 235 Gac/Aac 0 -HSPA6 UCSF GRCh37 1 161495582 161495582 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 19 93 0 ENST00000309758.4:c.1134G>A p.Gln378= p.Q378= ENST00000309758 NM_002155.3 378 caG/caA 0 -HSPBAP1 UCSF GRCh37 3 122459361 122459361 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 100 236 0 ENST00000306103.2:c.1298G>A p.Arg433Lys p.R433K ENST00000306103 NM_024610.5 433 aGa/aAa 0 -HSPG2 UCSF GRCh37 1 22217131 22217131 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 64 164 0 ENST00000374695.3:c.301G>A p.Glu101Lys p.E101K ENST00000374695 NM_005529.5 101 Gag/Aag 0 -HTR3D UCSF GRCh37 3 183754189 183754189 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Rec Untested WXS Illumina HiSeq 59 50 102 0 ENST00000382489.3:c.407T>A p.Met136Lys p.M136K ENST00000382489 NM_001163646.1 136 aTg/aAg 0 -HYDIN UCSF GRCh37 16 70929894 70929894 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 286 56 310 0 ENST00000393567.2:c.9138C>T p.Thr3046= p.T3046= ENST00000393567 NM_001270974.1 3046 acC/acT 0 -HYDIN UCSF GRCh37 16 71113831 71113831 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 152 27 159 0 ENST00000393567.2:c.1695C>T p.Phe565= p.F565= ENST00000393567 NM_001270974.1 565 ttC/ttT 0 -IARS2 UCSF GRCh37 1 220267700 220267700 + 5_prime_UTR_variant 5'UTR SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 10 33 0 ENST00000366922.1:c.-75G>A *25* ENST00000366922 0 -IARS2 UCSF GRCh37 1 220315250 220315250 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 107 232 0 ENST00000366922.1:c.2304C>T p.His768= p.H768= ENST00000366922 768 caC/caT 0 -ICAM1 UCSF GRCh37 19 10395087 10395087 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 42 118 0 ENST00000264832.3:c.934G>A p.Ala312Thr p.A312T ENST00000264832 NM_000201.2 312 Gcg/Acg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 54 155 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IFIT1B UCSF GRCh37 10 91143734 91143734 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 207 179 342 0 ENST00000371809.3:c.664C>T p.Leu222Phe p.L222F ENST00000371809 NM_001010987.2 222 Ctc/Ttc 0 -IFRD2 UCSF GRCh37 3 50326905 50326905 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 45 21 59 0 ENST00000417626.2:c.752G>A p.Ser251Asn p.S251N ENST00000417626 NM_006764.4 251 aGc/aAc 0 -IFT122 UCSF GRCh37 3 129197029 129197029 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 44 100 0 ENST00000348417.2:c.1318G>A p.Val440Met p.V440M ENST00000348417 NM_052989.2 440 Gtg/Atg 0 -IGF2BP1 UCSF GRCh37 17 47122362 47122362 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 132 66 205 0 ENST00000290341.3:c.1330C>T p.Pro444Ser p.P444S ENST00000290341 NM_006546.3 444 Ccc/Tcc 0 -IGF2R UCSF GRCh37 6 160493852 160493852 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 66 167 0 ENST00000356956.1:c.4626C>T p.Tyr1542= p.Y1542= ENST00000356956 NM_000876.2 1542 taC/taT 0 -IGF2R UCSF GRCh37 6 160467530 160467530 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 51 36 73 0 ENST00000356956.1:c.1904G>A p.Gly635Glu p.G635E ENST00000356956 NM_000876.2 635 gGg/gAg 0 -IGFN1 UCSF GRCh37 1 201185818 201185818 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 29 87 0 ENST00000295591.8:c.1012G>A p.Ala338Thr p.A338T ENST00000295591 338 Gct/Act 0 -IGHMBP2 UCSF GRCh37 11 68703919 68703919 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 65 121 0 ENST00000255078.3:c.1971G>A p.Gln657= p.Q657= ENST00000255078 NM_002180.2 657 caG/caA 0 -IGSF23 UCSF GRCh37 19 45127135 45127135 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 53 160 0 ENST00000402988.1:c.257G>A p.Ser86Asn p.S86N ENST00000402988 NM_001205280.1 86 aGt/aAt 0 -IGSF9 UCSF GRCh37 1 159898138 159898138 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 14 38 0 ENST00000368094.1:c.3040C>T p.Pro1014Ser p.P1014S ENST00000368094 NM_001135050.1 1014 Cct/Tct 0 -IK UCSF GRCh37 5 140037151 140037151 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 236 154 353 0 ENST00000417647.2:c.814C>T p.Leu272= p.L272= ENST00000417647 NM_006083.3 272 Ctg/Ttg 0 -IKBKB UCSF GRCh37 8 42174227 42174227 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 37 33 72 0 ENST00000520810.1:c.931-1G>A p.X311_splice ENST00000520810 NM_001556.2 0 -IKZF1 UCSF GRCh37 7 50444387 50444387 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 164 99 244 0 ENST00000331340.3:c.317G>A p.Gly106Glu p.G106E ENST00000331340 NM_006060.4 106 gGa/gAa 0 -IKZF5 UCSF GRCh37 10 124753424 124753424 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 91 193 0 ENST00000368886.5:c.1132C>T p.Leu378Phe p.L378F ENST00000368886 NM_001271840.1 378 Ctt/Ttt 0 -IL17RC UCSF GRCh37 3 9974706 9974706 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 10 23 0 ENST00000295981.3:c.1805G>A p.Gly602Asp p.G602D ENST00000295981 NM_153461.3 602 gGc/gAc 0 -IL20RB UCSF GRCh37 3 136710806 136710806 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 115 82 163 0 ENST00000329582.4:c.558G>A p.Gly186= p.G186= ENST00000329582 NM_144717.3 186 ggG/ggA 0 -ILF3 UCSF GRCh37 19 10793267 10793267 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 36 79 0 ENST00000590261.1:c.1435G>A p.Gly479Arg p.G479R ENST00000590261 479 Ggg/Agg 0 -IMP5 UCSF GRCh37 17 43924060 43924060 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 73 134 0 ENST00000329196.5:c.1788C>T p.Asp596= p.D596= ENST00000329196 NM_175882.2 596 gaC/gaT 0 -IMPG2 UCSF GRCh37 3 100994553 100994553 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 61 141 0 ENST00000193391.7:c.620C>T p.Ala207Val p.A207V ENST00000193391 NM_016247.3 207 gCc/gTc 0 -IMPG2 UCSF GRCh37 3 100961716 100961716 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 73 167 0 ENST00000193391.7:c.2838C>T p.Phe946= p.F946= ENST00000193391 NM_016247.3 946 ttC/ttT 0 -INADL UCSF GRCh37 1 62240978 62240978 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 168 117 276 0 ENST00000371158.2:c.821C>T p.Thr274Ile p.T274I ENST00000371158 NM_176877.2 274 aCt/aTt 0 -INO80D UCSF GRCh37 2 206921489 206921489 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0021 P18_Rec Untested WXS Illumina HiSeq 112 86 211 0 ENST00000403263.1:c.397C>T p.Pro133Ser p.P133S ENST00000403263 NM_017759.4 133 Cca/Tca 0 -INPP4A UCSF GRCh37 2 99136584 99136584 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 8 57 0 ENST00000074304.5:c.73G>A p.Val25Met p.V25M ENST00000074304 NM_001134224.1 25 Gtg/Atg 0 -INPP4A UCSF GRCh37 2 99170778 99170778 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 48 82 0 ENST00000074304.5:c.1407C>T p.Asn469= p.N469= ENST00000074304 NM_001134224.1 469 aaC/aaT 0 -INPP5F UCSF GRCh37 10 121579000 121579000 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 37 117 0 ENST00000361976.2:c.1887-1358G>A *629* ENST00000361976 NM_014937.3 0 -INPP5K UCSF GRCh37 17 1416790 1416790 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 165 114 231 0 ENST00000421807.2:c.218G>A p.Ser73Asn p.S73N ENST00000421807 NM_016532.3 73 aGc/aAc 0 -INTS10 UCSF GRCh37 8 19675133 19675133 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 7 8 15 0 ENST00000397977.3:c.85C>T p.Leu29= p.L29= ENST00000397977 NM_018142.2 29 Ctg/Ttg 0 -INTS3 UCSF GRCh37 1 153736307 153736307 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 14 42 0 ENST00000318967.2:c.1767-1G>A p.X589_splice ENST00000318967 NM_023015.3 0 -INTS3 UCSF GRCh37 1 153740288 153740288 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 63 109 0 ENST00000318967.2:c.2229C>T p.Pro743= p.P743= ENST00000318967 NM_023015.3 743 ccC/ccT 0 -INTS5 UCSF GRCh37 11 62414821 62414821 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 108 176 0 ENST00000330574.2:c.2731G>A p.Val911Met p.V911M ENST00000330574 NM_030628.1 911 Gtg/Atg 0 -IP6K3 UCSF GRCh37 6 33696027 33696027 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 37 84 0 ENST00000293756.4:c.250G>A p.Val84Ile p.V84I ENST00000293756 NM_054111.4 84 Gtt/Att 0 -IPO4 UCSF GRCh37 14 24656119 24656119 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 41 111 0 ENST00000354464.6:c.721C>T p.Pro241Ser p.P241S ENST00000354464 NM_024658.3 241 Ccc/Tcc 0 -IPO5 UCSF GRCh37 13 98654779 98654779 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 66 186 0 ENST00000357602.3:c.1167C>T p.Cys389= p.C389= ENST00000357602 389 tgC/tgT 0 -IQCB1 UCSF GRCh37 3 121544935 121544935 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 46 122 0 ENST00000310864.6:c.356G>A p.Gly119Glu p.G119E ENST00000310864 NM_001023570.2 119 gGg/gAg 0 -IQCG UCSF GRCh37 3 197619574 197619574 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 165 133 320 0 ENST00000265239.6:c.1020G>A p.Met340Ile p.M340I ENST00000265239 NM_032263.3 340 atG/atA 0 -IQCJ-SCHIP1 UCSF GRCh37 3 159606716 159606716 + synonymous_variant Silent SNP C C T snp132_rs2306063 P18_Rec Untested WXS Illumina HiSeq 121 93 201 0 ENST00000337808.6:c.1302C>T p.Leu434= p.L434= ENST00000337808 NM_001197107.1 434 ctC/ctT 0 -IREB2 UCSF GRCh37 15 78786575 78786575 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 224 125 301 0 ENST00000258886.8:c.2564G>A p.Arg855Lys p.R855K ENST00000258886 NM_004136.2 855 aGa/aAa 0 -IRF2 UCSF GRCh37 4 185350210 185350210 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 44 78 0 ENST00000393593.3:c.9G>A p.Val3= p.V3= ENST00000393593 NM_002199.3 3 gtG/gtA 0 -IRF2BP2 UCSF GRCh37 1 234743566 234743566 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 35 87 0 ENST00000366609.3:c.1081C>T p.Pro361Ser p.P361S ENST00000366609 NM_182972.2 361 Cca/Tca 0 -IRS4 UCSF GRCh37 X 107977198 107977198 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 166 159 0 ENST00000372129.2:c.2377C>T p.Pro793Ser p.P793S ENST00000372129 NM_003604.2 793 Ccc/Tcc 0 -IRX1 UCSF GRCh37 5 3600728 3600728 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 32 90 0 ENST00000302006.3:c.1318G>A p.Asp440Asn p.D440N ENST00000302006 NM_024337.3 440 Gac/Aac 0 -ITFG1 UCSF GRCh37 16 47409814 47409814 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 45 118 0 ENST00000320640.6:c.693C>T p.Thr231= p.T231= ENST00000320640 NM_030790.3 231 acC/acT 0 -ITGA5 UCSF GRCh37 12 54795811 54795811 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 51 131 0 ENST00000293379.4:c.2200G>A p.Gly734Ser p.G734S ENST00000293379 NM_002205.2 734 Ggc/Agc 0 -ITGA8 UCSF GRCh37 10 15647730 15647730 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 36 89 0 ENST00000378076.3:c.1963G>A p.Ala655Thr p.A655T ENST00000378076 NM_003638.1 655 Gct/Act 0 -ITGA8 UCSF GRCh37 10 15719614 15719614 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 239 126 185 0 ENST00000378076.3:c.653G>A p.Gly218Glu p.G218E ENST00000378076 NM_003638.1 218 gGa/gAa 0 -ITGAD UCSF GRCh37 16 31429662 31429662 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 56 115 0 ENST00000389202.2:c.2657C>T p.Thr886Ile p.T886I ENST00000389202 NM_005353.2 886 aCc/aTc 0 -ITGAL UCSF GRCh37 16 30500707 30500707 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 49 123 1 ENST00000356798.6:c.1213G>A p.Gly405Ser p.G405S ENST00000356798 NM_002209.2 405 Ggt/Agt 0 -ITGB3 UCSF GRCh37 17 45360902 45360902 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 78 46 121 0 ENST00000559488.1:c.348C>T p.Leu116= p.L116= ENST00000559488 NM_000212.2 116 ctC/ctT 0 -ITGB4 UCSF GRCh37 17 73739880 73739880 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 19 40 0 ENST00000200181.3:c.3049C>T p.Leu1017= p.L1017= ENST00000200181 NM_000213.3 1017 Ctg/Ttg 0 -ITGB4 UCSF GRCh37 17 73752517 73752517 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 41 112 0 ENST00000200181.3:c.4716G>A p.Leu1572= p.L1572= ENST00000200181 NM_000213.3 1572 ctG/ctA 0 -ITIH1 UCSF GRCh37 3 52812466 52812466 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 90 220 0 ENST00000273283.2:c.249G>A p.Arg83= p.R83= ENST00000273283 NM_002215.3 83 agG/agA 0 -ITPKC UCSF GRCh37 19 41224119 41224119 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 55 111 0 ENST00000263370.2:c.1079C>T p.Ala360Val p.A360V ENST00000263370 NM_025194.2 360 gCc/gTc 0 -ITPR1 UCSF GRCh37 3 4715049 4715049 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 580 120 296 0 ENST00000354582.6:c.2434C>T p.Pro812Ser p.P812S ENST00000354582 812 Ccc/Tcc 0 -ITPR1 UCSF GRCh37 3 4722322 4722322 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 292 56 135 0 ENST00000354582.6:c.3053C>T p.Thr1018Ile p.T1018I ENST00000354582 1018 aCt/aTt 0 -ITPR1 UCSF GRCh37 3 4681123 4681123 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 355 76 154 0 ENST00000354582.6:c.335G>A p.Gly112Glu p.G112E ENST00000354582 112 gGg/gAg 0 -ITPR1 UCSF GRCh37 3 4808213 4808213 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 428 88 233 0 ENST00000354582.6:c.5500-1G>A p.X1834_splice ENST00000354582 0 -ITPR1 UCSF GRCh37 3 4829658 4829658 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 551 132 263 0 ENST00000354582.6:c.6598C>T p.Gln2200Ter p.Q2200* ENST00000354582 2200 Cag/Tag 0 -ITPR1 UCSF GRCh37 3 4817088 4817088 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 629 140 305 0 ENST00000354582.6:c.6097C>T p.Leu2033= p.L2033= ENST00000354582 2033 Ctg/Ttg 0 -IWS1 UCSF GRCh37 2 128238734 128238734 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 70 157 0 ENST00000295321.4:c.2346G>A p.Lys782= p.K782= ENST00000295321 NM_017969.2 782 aaG/aaA 0 -JAG1 UCSF GRCh37 20 10620400 10620400 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 53 139 0 ENST00000254958.5:c.3403C>T p.Pro1135Ser p.P1135S ENST00000254958 NM_000214.2 1135 Ccc/Tcc 0 -JAKMIP2 UCSF GRCh37 5 147030033 147030033 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 60 146 0 ENST00000265272.5:c.705G>A p.Gln235= p.Q235= ENST00000265272 NM_014790.4 235 caG/caA 0 -JKAMP UCSF GRCh37 14 59970668 59970668 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 173 135 272 0 ENST00000261247.9:c.814G>A p.Asp272Asn p.D272N ENST00000261247 NM_001098625.1 272 Gat/Aat 0 -JUB UCSF GRCh37 14 23443256 23443256 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 144 103 249 0 ENST00000262713.2:c.1491G>A p.Glu497= p.E497= ENST00000262713 NM_032876.4 497 gaG/gaA 0 -JUNB UCSF GRCh37 19 12902742 12902742 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 28 47 0 ENST00000302754.4:c.157C>T p.Pro53Ser p.P53S ENST00000302754 NM_002229.2 53 Cct/Tct 0 -KANK1 UCSF GRCh37 9 713345 713345 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 108 229 0 ENST00000382297.2:c.2579G>A p.Gly860Asp p.G860D ENST00000382297 NM_001256877.1 860 gGc/gAc 0 -KANK4 UCSF GRCh37 1 62740568 62740568 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 97 194 0 ENST00000371153.4:c.208C>T p.Pro70Ser p.P70S ENST00000371153 NM_181712.4 70 Ccc/Tcc 0 -KAT6B UCSF GRCh37 10 76602646 76602646 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 103 246 0 ENST00000287239.4:c.31G>A p.Glu11Lys p.E11K ENST00000287239 NM_001256468.1 11 Gag/Aag 0 -KAZN UCSF GRCh37 1 15382767 15382767 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 26 57 0 ENST00000376030.2:c.907G>A p.Asp303Asn p.D303N ENST00000376030 NM_201628.2 303 Gac/Aac 0 -KBTBD10 UCSF GRCh37 2 170382119 170382119 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 117 80 197 0 ENST00000284669.1:c.1734G>A p.Trp578Ter p.W578* ENST00000284669 NM_006063.2 578 tgG/tgA 0 -KBTBD10 UCSF GRCh37 2 170374757 170374757 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 73 149 0 ENST00000284669.1:c.1434G>A p.Leu478= p.L478= ENST00000284669 NM_006063.2 478 ctG/ctA 0 -KBTBD6 UCSF GRCh37 13 41705456 41705456 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 92 239 0 ENST00000379485.1:c.1192G>A p.Ala398Thr p.A398T ENST00000379485 NM_152903.4 398 Gct/Act 0 -KCNA4 UCSF GRCh37 11 30033280 30033280 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 136 91 203 0 ENST00000328224.6:c.946G>A p.Val316Ile p.V316I ENST00000328224 NM_002233.3 316 Gtc/Atc 0 -KCMT-ND2 UCSF GRCh37 7 119914851 119914851 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 117 237 0 ENST00000331113.4:c.165G>A p.Trp55Ter p.W55* ENST00000331113 NM_012281.2 55 tgG/tgA 0 -KCMT-ND3 UCSF GRCh37 1 112524839 112524839 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 45 33 101 0 ENST00000315987.2:c.510G>A p.Trp170Ter p.W170* ENST00000315987 NM_004980.4 170 tgG/tgA 0 -KCNF1 UCSF GRCh37 2 11053062 11053062 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 24 82 0 ENST00000295082.1:c.510G>A p.Lys170= p.K170= ENST00000295082 NM_002236.4 170 aaG/aaA 0 -KCNH1 UCSF GRCh37 1 210857328 210857328 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 38 86 0 ENST00000271751.4:c.2265G>A p.Glu755= p.E755= ENST00000271751 755 gaG/gaA 0 -KCNH6 UCSF GRCh37 17 61607784 61607784 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 59 132 0 ENST00000583023.1:c.556C>T p.Leu186Phe p.L186F ENST00000583023 NM_030779.3 186 Ctc/Ttc 0 -KCNH8 UCSF GRCh37 3 19295191 19295191 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 152 104 236 0 ENST00000328405.2:c.122C>T p.Pro41Leu p.P41L ENST00000328405 NM_144633.2 41 cCc/cTc 0 -KCNJ16 UCSF GRCh37 17 68129012 68129012 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 182 114 274 0 ENST00000283936.1:c.784C>T p.Pro262Ser p.P262S ENST00000283936 NM_018658.2 262 Cct/Tct 0 -KCNJ3 UCSF GRCh37 2 155711415 155711415 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 75 196 0 ENST00000295101.2:c.1096C>T p.Leu366Phe p.L366F ENST00000295101 NM_002239.3 366 Ctc/Ttc 0 -KCNK1 UCSF GRCh37 1 233802420 233802420 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 39 100 0 ENST00000366621.3:c.435C>T p.Thr145= p.T145= ENST00000366621 NM_002245.3 145 acC/acT 0 -KCNK13 UCSF GRCh37 14 90650846 90650846 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 90 208 0 ENST00000282146.4:c.726C>T p.Asp242= p.D242= ENST00000282146 NM_022054.3 242 gaC/gaT 0 -KCNK16 UCSF GRCh37 6 39282863 39282863 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 61 142 0 ENST00000373229.5:c.845G>A p.Arg282Lys p.R282K ENST00000373229 NM_032115.3 282 aGa/aAa 0 -KCNK17 UCSF GRCh37 6 39267491 39267491 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 76 139 0 ENST00000373231.4:c.711C>T p.Tyr237= p.Y237= ENST00000373231 NM_031460.3 237 taC/taT 0 -KCNK4 UCSF GRCh37 11 64065096 64065096 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 86 57 131 0 ENST00000394525.2:c.632C>T p.Thr211Ile p.T211I ENST00000394525 211 aCc/aTc 0 -KCNK5 UCSF GRCh37 6 39162060 39162060 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 75 145 0 ENST00000359534.3:c.519C>T p.Val173= p.V173= ENST00000359534 NM_003740.3 173 gtC/gtT 0 -KCNMA1 UCSF GRCh37 10 79163778 79163778 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 54 106 0 ENST00000286628.8:c.382G>A p.Ala128Thr p.A128T ENST00000286628 NM_001161352.1 128 Gcc/Acc 0 -KCNT1 UCSF GRCh37 9 138645788 138645788 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 27 64 1 ENST00000488444.2:c.383G>A p.Gly128Asp p.G128D ENST00000488444 128 gGc/gAc 0 -KCNT1 UCSF GRCh37 9 138649046 138649046 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 62 44 119 0 ENST00000488444.2:c.588G>A p.Glu196= p.E196= ENST00000488444 196 gaG/gaA 0 -KCNT1 UCSF GRCh37 9 138678090 138678090 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 9 18 0 ENST00000488444.2:c.3162G>A p.Val1054= p.V1054= ENST00000488444 1054 gtG/gtA 0 -KCNU1 UCSF GRCh37 8 36691074 36691074 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 229 201 371 0 ENST00000399881.3:c.1109C>T p.Thr370Ile p.T370I ENST00000399881 NM_001031836.2 370 aCc/aTc 0 -KDM2B UCSF GRCh37 12 122016746 122016746 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 42 68 0 ENST00000377071.4:c.232C>T p.Leu78= p.L78= ENST00000377071 NM_032590.4 78 Ctg/Ttg 0 -KDM3B UCSF GRCh37 5 137754882 137754882 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 54 131 0 ENST00000314358.5:c.3676G>A p.Ala1226Thr p.A1226T ENST00000314358 NM_016604.3 1226 Gca/Aca 0 -KDM3B UCSF GRCh37 5 137767249 137767249 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 74 212 0 ENST00000314358.5:c.5205+1G>A p.X1735_splice ENST00000314358 NM_016604.3 0 -KERA UCSF GRCh37 12 91445287 91445287 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 52 134 0 ENST00000266719.3:c.895G>A p.Val299Ile p.V299I ENST00000266719 NM_007035.3 299 Gtc/Atc 0 -BLTP2 UCSF GRCh37 17 26945953 26945953 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 78 57 105 0 ENST00000528896.2:c.5679G>A p.Lys1893= p.K1893= ENST00000528896 NM_014680.3 1893 aaG/aaA 0 -BLTP2 UCSF GRCh37 17 26950785 26950785 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 83 171 0 ENST00000528896.2:c.4952G>A p.Trp1651Ter p.W1651* ENST00000528896 NM_014680.3 1651 tGg/tAg 0 -BLTP2 UCSF GRCh37 17 26960944 26960944 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 65 137 0 ENST00000528896.2:c.3231G>A p.Met1077Ile p.M1077I ENST00000528896 NM_014680.3 1077 atG/atA 0 -KIAA0141 UCSF GRCh37 5 141305047 141305047 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 67 162 0 ENST00000194118.4:c.219G>A p.Met73Ile p.M73I ENST00000194118 73 atG/atA 0 -KIAA0196 UCSF GRCh37 8 126093945 126093945 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 119 60 185 0 ENST00000318410.7:c.476G>A p.Gly159Glu p.G159E ENST00000318410 NM_014846.3 159 gGa/gAa 0 -KIAA0226 UCSF GRCh37 3 197421334 197421334 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 77 177 0 ENST00000296343.5:c.1596C>T p.Ile532= p.I532= ENST00000296343 NM_014687.1 532 atC/atT 0 -KIAA0232 UCSF GRCh37 4 6863304 6863304 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 89 163 0 ENST00000307659.5:c.1195G>A p.Glu399Lys p.E399K ENST00000307659 NM_014743.2 399 Gag/Aag 0 -KIAA0240 UCSF GRCh37 6 42797076 42797076 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 188 157 330 0 ENST00000314073.5:c.1005G>A p.Gln335= p.Q335= ENST00000314073 335 caG/caA 0 -KIAA0284 UCSF GRCh37 14 105350247 105350247 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 17 52 0 ENST00000414716.3:c.1131G>A p.Leu377= p.L377= ENST00000414716 NM_001112726.2 377 ttG/ttA 0 -KIAA0415 UCSF GRCh37 7 4821359 4821359 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 28 78 0 ENST00000348624.4:c.340C>T p.Leu114= p.L114= ENST00000348624 NM_014855.2 114 Ctg/Ttg 0 -KIAA0430 UCSF GRCh37 16 15710946 15710946 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 205 77 188 0 ENST00000396368.3:c.3040C>T p.Leu1014Phe p.L1014F ENST00000396368 NM_001184998.1 1014 Ctt/Ttt 0 -KIAA0564 UCSF GRCh37 13 42295652 42295652 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 95 156 0 ENST00000379310.3:c.2818C>T p.Leu940Phe p.L940F ENST00000379310 NM_015058.1 940 Ctc/Ttc 0 -KIAA0889 UCSF GRCh37 20 35444374 35444374 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 27 70 0 ENST00000237536.4:c.1471C>T p.Pro491Ser p.P491S ENST00000237536 NM_080627.2 491 Cct/Tct 0 -KIAA0922 UCSF GRCh37 4 154512332 154512332 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 109 267 0 ENST00000409663.3:c.1795C>T p.Leu599Phe p.L599F ENST00000409663 NM_015196.3 599 Ctt/Ttt 0 -KIAA0947 UCSF GRCh37 5 5464975 5464975 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 40 69 0 ENST00000296564.7:c.5528G>A p.Arg1843Lys p.R1843K ENST00000296564 NM_015325.2 1843 aGa/aAa 0 -KIAA1211 UCSF GRCh37 4 57190331 57190331 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 36 120 0 ENST00000264229.6:c.3440C>T p.Ser1147Phe p.S1147F ENST00000264229 NM_020722.1 1147 tCc/tTc 0 -KIAA1211 UCSF GRCh37 4 57182328 57182328 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 20 73 0 ENST00000264229.6:c.2660G>A p.Gly887Glu p.G887E ENST00000264229 NM_020722.1 887 gGg/gAg 0 -KIAA1217 UCSF GRCh37 10 24813287 24813287 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 101 63 110 0 ENST00000376454.3:c.2492C>T p.Ala831Val p.A831V ENST00000376454 NM_019590.3 831 gCa/gTa 0 -KIAA1217 UCSF GRCh37 10 24813626 24813626 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 141 41 98 0 ENST00000376454.3:c.2831C>T p.Ala944Val p.A944V ENST00000376454 NM_019590.3 944 gCc/gTc 0 -KIAA1217 UCSF GRCh37 10 24831845 24831845 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 59 104 0 ENST00000376454.3:c.3646C>T p.Pro1216Ser p.P1216S ENST00000376454 NM_019590.3 1216 Cct/Tct 0 -KIAA1217 UCSF GRCh37 10 24834887 24834887 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 279 149 263 0 ENST00000376454.3:c.5466C>T p.Ser1822= p.S1822= ENST00000376454 NM_019590.3 1822 agC/agT 0 -KIAA1310 UCSF GRCh37 2 97267863 97267863 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 26 57 0 ENST00000431828.1:c.2472C>T p.Asn824= p.N824= ENST00000431828 824 aaC/aaT 0 -KIAA1370 UCSF GRCh37 15 52903407 52903407 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 132 341 0 ENST00000261844.7:c.450C>T p.Val150= p.V150= ENST00000261844 NM_019600.2 150 gtC/gtT 0 -KIAA1383 UCSF GRCh37 1 232942673 232942673 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 149 126 213 0 ENST00000418460.1:c.1904G>A p.Gly635Glu p.G635E ENST00000418460 NM_019090.2 635 gGg/gAg 0 -KIAA1468 UCSF GRCh37 18 59942649 59942649 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 34 81 0 ENST00000398130.2:c.2910G>A p.Trp970Ter p.W970* ENST00000398130 NM_020854.3 970 tgG/tgA 0 -KIAA1614 UCSF GRCh37 1 180885292 180885292 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 18 52 0 ENST00000367588.4:c.53G>A p.Gly18Glu p.G18E ENST00000367588 NM_020950.1 18 gGg/gAg 0 -KIAA1671 UCSF GRCh37 22 25424711 25424711 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 5 17 28 0 ENST00000358431.3:c.745G>A p.Glu249Lys p.E249K ENST00000358431 NM_001145206.1 249 Gag/Aag 0 -KIAA1958 UCSF GRCh37 9 115408050 115408050 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 81 182 0 ENST00000337530.6:c.1292G>A p.Trp431Ter p.W431* ENST00000337530 NM_001287038.1 431 tGg/tAg 0 -KIAA2018 UCSF GRCh37 3 113377351 113377351 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 167 107 268 0 ENST00000316407.4:c.3178G>A p.Asp1060Asn p.D1060N ENST00000316407 NM_001009899.2 1060 Gat/Aat 0 -KIAA2018 UCSF GRCh37 3 113380149 113380149 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 143 96 227 0 ENST00000316407.4:c.380G>A p.Gly127Glu p.G127E ENST00000316407 NM_001009899.2 127 gGa/gAa 0 -KIF12 UCSF GRCh37 9 116854152 116854152 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 19 41 0 ENST00000374118.3:c.1531C>T p.Pro511Ser p.P511S ENST00000374118 NM_138424.1 511 Cct/Tct 0 -KIF13A UCSF GRCh37 6 17817358 17817358 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 70 105 0 ENST00000259711.6:c.1893C>T p.Leu631= p.L631= ENST00000259711 NM_022113.5 631 ctC/ctT 0 -KIF13A UCSF GRCh37 6 17799560 17799560 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 69 137 0 ENST00000259711.6:c.2727C>T p.Asp909= p.D909= ENST00000259711 NM_022113.5 909 gaC/gaT 0 -KIF15 UCSF GRCh37 3 44868999 44868999 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 43 119 0 ENST00000326047.4:c.2835G>A p.Glu945= p.E945= ENST00000326047 NM_020242.2 945 gaG/gaA 0 -KIF19 UCSF GRCh37 17 72351387 72351387 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 29 77 0 ENST00000389916.4:c.2933G>A p.Arg978His p.R978H ENST00000389916 NM_153209.3 978 cGt/cAt 0 -KIF1B UCSF GRCh37 1 10386370 10386370 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 71 151 0 ENST00000377086.1:c.2877G>A p.Gly959= p.G959= ENST00000377086 959 ggG/ggA 0 -KIF1B UCSF GRCh37 1 10402188 10402188 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 187 133 312 0 ENST00000377086.1:c.3594G>A p.Gln1198= p.Q1198= ENST00000377086 1198 caG/caA 0 -KIF21B UCSF GRCh37 1 200959124 200959124 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 32 91 0 ENST00000422435.2:c.3078C>T p.Ser1026= p.S1026= ENST00000422435 NM_001252100.1 1026 tcC/tcT 0 -KIF26A UCSF GRCh37 14 104639339 104639339 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 30 19 51 0 ENST00000423312.2:c.1446G>A p.Lys482= p.K482= ENST00000423312 NM_015656.1 482 aaG/aaA 0 -KIF3B UCSF GRCh37 20 30919053 30919053 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 69 166 0 ENST00000375712.3:c.2175C>T p.Ser725= p.S725= ENST00000375712 NM_004798.3 725 tcC/tcT 0 -KIF5B UCSF GRCh37 10 32321645 32321645 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 79 182 0 ENST00000302418.4:c.1363G>A p.Asp455Asn p.D455N ENST00000302418 NM_004521.2 455 Gat/Aat 0 -KIF5B UCSF GRCh37 10 32311839 32311839 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 122 87 192 0 ENST00000302418.4:c.1851G>A p.Glu617= p.E617= ENST00000302418 NM_004521.2 617 gaG/gaA 0 -KIFC3 UCSF GRCh37 16 57793698 57793698 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 7 19 0 ENST00000379655.4:c.2418C>T p.Ala806= p.A806= ENST00000379655 NM_005550.3 806 gcC/gcT 0 -KIRREL3 UCSF GRCh37 11 126333116 126333116 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 32 70 0 ENST00000525144.2:c.678G>A p.Val226= p.V226= ENST00000525144 NM_032531.3 226 gtG/gtA 0 -KLF17 UCSF GRCh37 1 44595450 44595450 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 48 133 0 ENST00000372299.3:c.507G>A p.Met169Ile p.M169I ENST00000372299 NM_173484.3 169 atG/atA 0 -KLF6 UCSF GRCh37 10 3824180 3824180 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 245 159 227 0 ENST00000497571.1:c.329G>A p.Ser110Asn p.S110N ENST00000497571 NM_001300.5 110 aGc/aAc 0 -KLHDC10 UCSF GRCh37 7 129762040 129762040 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 186 215 0 ENST00000335420.5:c.777G>A p.Glu259= p.E259= ENST00000335420 NM_014997.3 259 gaG/gaA 0 -KLHDC8B UCSF GRCh37 3 49211804 49211804 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 56 157 0 ENST00000332780.2:c.509C>T p.Thr170Ile p.T170I ENST00000332780 NM_173546.2 170 aCc/aTc 0 -KLHL17 UCSF GRCh37 1 899356 899356 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 80 134 0 ENST00000338591.3:c.1412C>T p.Thr471Ile p.T471I ENST00000338591 NM_198317.2 471 aCc/aTc 0 -KLHL17 UCSF GRCh37 1 898853 898853 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 25 54 0 ENST00000338591.3:c.1324G>A p.Gly442Ser p.G442S ENST00000338591 NM_198317.2 442 Ggc/Agc 0 -KLHL17 UCSF GRCh37 1 897130 897130 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 15 63 0 ENST00000338591.3:c.489G>A p.Gln163= p.Q163= ENST00000338591 NM_198317.2 163 caG/caA 0 -KLHL21 UCSF GRCh37 1 6653605 6653605 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 44 31 85 0 ENST00000377658.4:c.1614C>T p.Arg538= p.R538= ENST00000377658 NM_014851.2 538 cgC/cgT 0 -KLHL7 UCSF GRCh37 7 23205492 23205492 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 76 66 156 0 ENST00000339077.5:c.1112C>A p.Pro371His p.P371H ENST00000339077 NM_001031710.2 371 cCt/cAt 0 -KLHL8 UCSF GRCh37 4 88106529 88106529 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 163 135 256 0 ENST00000273963.5:c.639C>T p.Leu213= p.L213= ENST00000273963 NM_020803.3 213 ctC/ctT 0 -KLK10 UCSF GRCh37 19 51519265 51519265 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 12 6 11 0 ENST00000309958.3:c.417G>A p.Met139Ile p.M139I ENST00000309958 NM_002776.4 139 atG/atA 0 -KLK12 UCSF GRCh37 19 51534051 51534051 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 68 139 0 ENST00000319590.4:c.584C>T p.Ala195Val p.A195V ENST00000319590 NM_145894.1 195 gCc/gTc 0 -KPNA3 UCSF GRCh37 13 50306749 50306749 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 139 68 190 0 ENST00000261667.3:c.279G>A p.Gln93= p.Q93= ENST00000261667 NM_002267.3 93 caG/caA 0 -KPRP UCSF GRCh37 1 152733154 152733154 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 44 96 0 ENST00000606109.1:c.1090G>A p.Gly364Ser p.G364S ENST00000606109 364 Ggc/Agc 0 -KREMEN1 UCSF GRCh37 22 29490366 29490366 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Rec Untested WXS Illumina HiSeq 68 8 141 0 ENST00000407188.1:c.212A>C p.Tyr71Ser p.Y71S ENST00000407188 71 tAc/tCc 0 -KRT12 UCSF GRCh37 17 39019559 39019559 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 30 26 64 0 ENST00000251643.4:c.1132G>A p.Gly378Ser p.G378S ENST00000251643 NM_000223.3 378 Ggc/Agc 0 -KRT17 UCSF GRCh37 17 39777949 39777949 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 126 98 171 0 ENST00000311208.8:c.730G>A p.Ala244Thr p.A244T ENST00000311208 NM_000422.2 244 Gcc/Acc 0 -KRT23 UCSF GRCh37 17 39081672 39081672 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 60 154 0 ENST00000209718.3:c.1076G>A p.Gly359Asp p.G359D ENST00000209718 NM_015515.3 359 gGc/gAc 0 -KRTAP10-3 UCSF GRCh37 21 45977945 45977945 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.005,1000g2011may_all_0.0170,snp132_rs13047815 P18_Rec Untested WXS Illumina HiSeq 42 29 66 0 ENST00000391620.1:c.654G>A p.Lys218= p.K218= ENST00000391620 NM_198696.2 218 aaG/aaA 0 -KRTAP4-7 UCSF GRCh37 17 39240848 39240848 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 49 96 0 ENST00000391417.4:c.390C>T p.Cys130= p.C130= ENST00000391417 NM_033061.3 130 tgC/tgT 0 -KRTCAP3 UCSF GRCh37 2 27666821 27666821 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 23 56 96 0 ENST00000288873.3:c.621G>A p.Glu207= p.E207= ENST00000288873 NM_173853.3 207 gaG/gaA 0 -KSR2 UCSF GRCh37 12 118199019 118199019 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 56 91 0 ENST00000339824.5:c.783G>A p.Pro261= p.P261= ENST00000339824 261 ccG/ccA 0 -KTI12 UCSF GRCh37 1 52498937 52498937 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 59 151 0 ENST00000371614.1:c.497C>T p.Ala166Val p.A166V ENST00000371614 NM_138417.2 166 gCc/gTc 0 -LAG3 UCSF GRCh37 12 6882393 6882393 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 62 104 0 ENST00000203629.2:c.94G>A p.Val32Met p.V32M ENST00000203629 NM_002286.5 32 Gtg/Atg 0 -LAIR2 UCSF GRCh37 19 55021774 55021774 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 76 220 0 ENST00000301202.2:c.454C>T p.Pro152Ser p.P152S ENST00000301202 NM_002288.4 152 Cca/Tca 0 -LAMA3 UCSF GRCh37 18 21529802 21529802 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 81 56 145 0 ENST00000313654.9:c.9425C>T p.Ser3142Phe p.S3142F ENST00000313654 NM_198129.1 3142 tCt/tTt 0 -LAMA5 UCSF GRCh37 20 60909396 60909396 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 6 17 0 ENST00000252999.3:c.2585C>T p.Pro862Leu p.P862L ENST00000252999 NM_005560.4 862 cCt/cTt 0 -LAMB1 UCSF GRCh37 7 107599749 107599749 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 131 92 212 0 ENST00000222399.6:c.2635G>A p.Val879Met p.V879M ENST00000222399 NM_002291.2 879 Gtg/Atg 0 -LAMB4 UCSF GRCh37 7 107696233 107696233 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 53 131 0 ENST00000205386.4:c.3599C>T p.Ala1200Val p.A1200V ENST00000205386 1200 gCt/gTt 0 -LAMB4 UCSF GRCh37 7 107708557 107708557 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 93 164 0 ENST00000205386.4:c.2350C>T p.Leu784Phe p.L784F ENST00000205386 784 Ctt/Ttt 0 -LAMTOR2 UCSF GRCh37 1 156025217 156025217 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 59 121 0 ENST00000368305.4:c.231+1G>A p.X77_splice ENST00000368305 NM_014017.3 0 -LANCL2 UCSF GRCh37 7 55467677 55467677 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 120 264 0 ENST00000254770.2:c.558C>T p.Val186= p.V186= ENST00000254770 NM_018697.3 186 gtC/gtT 0 -LARS2 UCSF GRCh37 3 45518014 45518014 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 128 75 187 0 ENST00000265537.3:c.913G>A p.Ala305Thr p.A305T ENST00000265537 NM_015340.3 305 Gcc/Acc 0 -LARS2 UCSF GRCh37 3 45561725 45561725 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 110 80 174 0 ENST00000265537.3:c.2229C>T p.Phe743= p.F743= ENST00000265537 NM_015340.3 743 ttC/ttT 0 -LBP UCSF GRCh37 20 37005267 37005267 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 171 114 271 0 ENST00000217407.2:c.1402G>A p.Asp468Asn p.D468N ENST00000217407 NM_004139.3 468 Gac/Aac 0 -LCA5 UCSF GRCh37 6 80198823 80198823 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 139 105 208 0 ENST00000369846.4:c.1209G>A p.Gln403= p.Q403= ENST00000369846 NM_001122769.2 403 caG/caA 0 -LCE1B UCSF GRCh37 1 152785227 152785227 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 45 118 0 ENST00000360090.3:c.305G>A p.Gly102Asp p.G102D ENST00000360090 NM_178349.1 102 gGc/gAc 0 -LCORL UCSF GRCh37 4 17847453 17847453 + downstream_gene_variant 3'Flank SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 154 114 230 0 ENST00000251496 NM_022346.4 0 -LCT UCSF GRCh37 2 136594109 136594109 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 140 83 215 0 ENST00000264162.2:c.631G>T p.Ala211Ser p.A211S ENST00000264162 NM_002299.2 211 Gct/Tct 0 -LETM1 UCSF GRCh37 4 1823919 1823919 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 58 112 0 ENST00000302787.2:c.1597G>A p.Glu533Lys p.E533K ENST00000302787 NM_012318.2 533 Gag/Aag 0 -LGALS4 UCSF GRCh37 19 39297145 39297145 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 68 139 0 ENST00000307751.4:c.430C>T p.Leu144Phe p.L144F ENST00000307751 NM_006149.3 144 Ctt/Ttt 0 -LGALS9C UCSF GRCh37 17 18392297 18392297 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 29 22 81 0 ENST00000328114.6:c.487C>T p.Pro163Ser p.P163S ENST00000328114 NM_001040078.2 163 Ccg/Tcg 0 -LILRA6 UCSF GRCh37 19 54744315 54744315 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 246 75 304 0 ENST00000396365.2:c.1093C>T p.Pro365Ser p.P365S ENST00000396365 NM_024318.2 365 Cca/Tca 0 -LILRB1 UCSF GRCh37 19 55148046 55148046 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 54 150 0 ENST00000324602.7:c.1755G>A p.Gly585= p.G585= ENST00000324602 NM_001278399.1 585 ggG/ggA 0 -LILRB5 UCSF GRCh37 19 54756405 54756405 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 37 89 0 ENST00000449561.2:c.1482C>T p.Phe494= p.F494= ENST00000449561 494 ttC/ttT 0 -LIMCH1 UCSF GRCh37 4 41652573 41652573 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 53 116 0 ENST00000313860.7:c.1829G>A p.Gly610Asp p.G610D ENST00000313860 NM_014988.2 610 gGt/gAt 0 -LIMK1 UCSF GRCh37 7 73520545 73520545 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 50 154 0 ENST00000336180.2:c.853G>A p.Gly285Ser p.G285S ENST00000336180 NM_002314.3 285 Ggc/Agc 0 -LINGO3 UCSF GRCh37 19 2291415 2291415 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 45 23 74 0 ENST00000585527.1:c.361G>A p.Val121Ile p.V121I ENST00000585527 121 Gtc/Atc 0 -LIPH UCSF GRCh37 3 185252808 185252808 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 193 134 333 0 ENST00000296252.4:c.162A>G p.Ala54= p.A54= ENST00000296252 NM_139248.2 54 gcA/gcG 0 -LMCD1 UCSF GRCh37 3 8607163 8607163 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 233 64 145 0 ENST00000157600.3:c.769G>A p.Val257Ile p.V257I ENST00000157600 NM_014583.3 257 Gtc/Atc 0 -LMNA UCSF GRCh37 1 156105024 156105024 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 25 68 0 ENST00000368300.4:c.857G>A p.Gly286Glu p.G286E ENST00000368300 NM_170707.3 286 gGg/gAg 0 -LMO7 UCSF GRCh37 13 76379635 76379635 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 156 104 262 0 ENST00000465261.2:c.236G>A p.Gly79Asp p.G79D ENST00000465261 NM_015842.2 79 gGc/gAc 0 -LMO7 UCSF GRCh37 13 76407286 76407286 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 187 162 374 0 ENST00000465261.2:c.2350G>A p.Ala784Thr p.A784T ENST00000465261 NM_015842.2 784 Gca/Aca 0 -LMOD3 UCSF GRCh37 3 69168785 69168785 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 198 154 353 0 ENST00000420581.2:c.721C>T p.Leu241= p.L241= ENST00000420581 NM_198271.3 241 Ctg/Ttg 0 -LMTK2 UCSF GRCh37 7 97770709 97770709 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 86 193 0 ENST00000297293.5:c.232G>A p.Glu78Lys p.E78K ENST00000297293 NM_014916.3 78 Gaa/Aaa 0 -LMTK3 UCSF GRCh37 19 49001311 49001311 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 111 85 174 0 ENST00000600059.1:c.3015G>A p.Glu1005= p.E1005= ENST00000600059 1005 gaG/gaA 0 -LNPEP UCSF GRCh37 5 96362436 96362436 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 99 175 0 ENST00000231368.5:c.2839G>A p.Glu947Lys p.E947K ENST00000231368 NM_005575.2 947 Gag/Aag 0 -LONP1 UCSF GRCh37 19 5711911 5711911 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 53 88 0 ENST00000360614.3:c.741G>A p.Glu247= p.E247= ENST00000360614 NM_004793.3 247 gaG/gaA 0 -LPA UCSF GRCh37 6 161022079 161022079 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 65 195 0 ENST00000316300.5:c.2997G>A p.Trp999Ter p.W999* ENST00000316300 999 tgG/tgA 0 -LPHN2 UCSF GRCh37 1 82436047 82436047 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 125 85 220 0 ENST00000370717.2:c.2771C>T p.Ala924Val p.A924V ENST00000370717 924 gCt/gTt 0 -LPHN3 UCSF GRCh37 4 62598985 62598985 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 195 136 317 0 ENST00000514591.1:c.908C>T p.Thr303Ile p.T303I ENST00000514591 303 aCt/aTt 0 -LPO UCSF GRCh37 17 56345285 56345285 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 44 155 0 ENST00000262290.4:c.2069C>T p.Pro690Leu p.P690L ENST00000262290 NM_006151.2 690 cCc/cTc 0 -LRCH1 UCSF GRCh37 13 47262035 47262035 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 48 157 0 ENST00000389798.3:c.871G>A p.Ala291Thr p.A291T ENST00000389798 NM_015116.2 291 Gca/Aca 0 -LRFN4 UCSF GRCh37 11 66625310 66625310 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 19 59 0 ENST00000309602.4:c.95C>T p.Thr32Ile p.T32I ENST00000309602 NM_024036.4 32 aCc/aTc 0 -LRG1 UCSF GRCh37 19 4538924 4538924 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 38 101 0 ENST00000306390.6:c.72C>T p.Phe24= p.F24= ENST00000306390 NM_052972.2 24 ttC/ttT 0 -LRGUK UCSF GRCh37 7 133848209 133848209 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 87 166 0 ENST00000285928.2:c.856G>A p.Asp286Asn p.D286N ENST00000285928 NM_144648.1 286 Gat/Aat 0 -LRIT1 UCSF GRCh37 10 85994012 85994012 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 80 173 0 ENST00000372105.3:c.712C>T p.Leu238= p.L238= ENST00000372105 NM_015613.2 238 Ctg/Ttg 0 -LRRC15 UCSF GRCh37 3 194081183 194081183 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 155 122 248 0 ENST00000347624.3:c.590G>A p.Gly197Asp p.G197D ENST00000347624 NM_130830.4 197 gGc/gAc 0 -LRRC16B UCSF GRCh37 14 24534907 24534907 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 62 114 0 ENST00000342740.5:c.3473C>T p.Ala1158Val p.A1158V ENST00000342740 NM_138360.3 1158 gCc/gTc 0 -LRRC17 UCSF GRCh37 7 102584853 102584853 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 134 101 212 0 ENST00000339431.4:c.1125C>T p.Gly375= p.G375= ENST00000339431 NM_001031692.2 375 ggC/ggT 0 -LRRC25 UCSF GRCh37 19 18507245 18507245 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 21 84 0 ENST00000339007.3:c.529C>T p.Leu177Phe p.L177F ENST00000339007 NM_145256.2 177 Ctt/Ttt 0 -LRRC36 UCSF GRCh37 16 67400959 67400959 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 93 194 0 ENST00000329956.6:c.794C>T p.Ser265Phe p.S265F ENST00000329956 NM_018296.5 265 tCc/tTc 0 -LRRC37B UCSF GRCh37 17 30376161 30376161 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 176 126 374 0 ENST00000341671.7:c.2424C>T p.Ser808= p.S808= ENST00000341671 NM_052888.2 808 tcC/tcT 0 -LRRC43 UCSF GRCh37 12 122684865 122684865 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 58 47 104 0 ENST00000339777.4:c.1479C>T p.Ile493= p.I493= ENST00000339777 NM_152759.4 493 atC/atT 0 -LRRC46 UCSF GRCh37 17 45913823 45913823 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 63 45 75 0 ENST00000269025.4:c.577C>T p.Pro193Ser p.P193S ENST00000269025 NM_033413.3 193 Cca/Tca 0 -LRRC46 UCSF GRCh37 17 45914311 45914311 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 82 169 0 ENST00000269025.4:c.791C>T p.Ala264Val p.A264V ENST00000269025 NM_033413.3 264 gCc/gTc 0 -LRRC47 UCSF GRCh37 1 3712429 3712429 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 14 12 0 ENST00000378251.1:c.612C>T p.Leu204= p.L204= ENST00000378251 NM_020710.2 204 ctC/ctT 0 -LRRC4B UCSF GRCh37 19 51022257 51022257 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 30 23 49 0 ENST00000389201.3:c.713G>A p.Gly238Asp p.G238D ENST00000389201 NM_001080457.1 238 gGc/gAc 0 -LRRC56 UCSF GRCh37 11 550220 550220 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 2 23 39 0 ENST00000270115.7:c.572C>T p.Thr191Ile p.T191I ENST00000270115 NM_198075.3 191 aCc/aTc 0 -LRRC56 UCSF GRCh37 11 551933 551933 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 2 23 51 0 ENST00000270115.7:c.1004C>T p.Thr335Ile p.T335I ENST00000270115 NM_198075.3 335 aCc/aTc 0 -LRRC61 UCSF GRCh37 7 150034028 150034028 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 45 98 0 ENST00000323078.7:c.78C>T p.Gly26= p.G26= ENST00000323078 NM_023942.2 26 ggC/ggT 0 -LRRC7 UCSF GRCh37 1 70257745 70257745 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 166 85 229 0 ENST00000035383.5:c.209C>T p.Ala70Val p.A70V ENST00000035383 NM_020794.2 70 gCt/gTt 0 -LRRFIP1 UCSF GRCh37 2 238628200 238628200 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 58 125 0 ENST00000392000.4:c.188G>A p.Arg63Lys p.R63K ENST00000392000 NM_001137552.1 63 aGa/aAa 0 -LRRK2 UCSF GRCh37 12 40728953 40728953 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 72 98 0 ENST00000298910.7:c.5942G>A p.Gly1981Asp p.G1981D ENST00000298910 NM_198578.3 1981 gGt/gAt 0 -LRRK2 UCSF GRCh37 12 40734120 40734120 + synonymous_variant Silent SNP A A C NOVEL P18_Rec Untested WXS Illumina HiSeq 43 143 243 0 ENST00000298910.7:c.5973A>C p.Ile1991= p.I1991= ENST00000298910 NM_198578.3 1991 atA/atC 0 -LRRN2 UCSF GRCh37 1 204588972 204588972 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 26 57 0 ENST00000367175.1:c.149C>T p.Ala50Val p.A50V ENST00000367175 50 gCt/gTt 0 -LRRTM2 UCSF GRCh37 5 138208784 138208784 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 217 186 317 0 ENST00000274711.6:c.1466C>T p.Pro489Leu p.P489L ENST00000274711 NM_015564.2 489 cCc/cTc 0 -LRTM2 UCSF GRCh37 12 1943854 1943854 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 24 63 0 ENST00000299194.1:c.1080C>T p.His360= p.H360= ENST00000299194 360 caC/caT 0 -LRWD1 UCSF GRCh37 7 102106690 102106690 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 60 118 0 ENST00000292616.5:c.405G>A p.Glu135= p.E135= ENST00000292616 NM_152892.1 135 gaG/gaA 0 -LSAMP UCSF GRCh37 3 115560705 115560705 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 76 158 0 ENST00000490035.2:c.906C>T p.Ser302= p.S302= ENST00000490035 NM_002338.3 302 agC/agT 0 -LSM14B UCSF GRCh37 20 60699695 60699695 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 131 102 254 0 ENST00000279068.6:c.150C>T p.Asp50= p.D50= ENST00000279068 NM_144703.2 50 gaC/gaT 0 -LTB4R2 UCSF GRCh37 14 24780661 24780661 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 30 82 0 ENST00000528054.1:c.884G>A p.Gly295Glu p.G295E ENST00000528054 295 gGa/gAa 0 -LTBP4 UCSF GRCh37 19 41128531 41128531 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 18 21 31 0 ENST00000308370.7:c.3641G>A p.Gly1214Asp p.G1214D ENST00000308370 NM_001042544.1 1214 gGc/gAc 0 -LTK UCSF GRCh37 15 41796765 41796765 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 71 159 0 ENST00000263800.6:c.2194G>A p.Val732Met p.V732M ENST00000263800 NM_002344.5 732 Gtg/Atg 0 -LTN1 UCSF GRCh37 21 30329198 30329198 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 52 133 0 ENST00000361371.5:c.2965C>T p.Gln989Ter p.Q989* ENST00000361371 989 Cag/Tag 0 -LTN1 UCSF GRCh37 21 30365211 30365211 + upstream_gene_variant 5'Flank SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 30 30 81 0 ENST00000361371 0 -LYZL2 UCSF GRCh37 10 30918612 30918612 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 190 35 165 0 ENST00000375318.2:c.23G>A p.Cys8Tyr p.C8Y ENST00000375318 NM_183058.2 8 tGc/tAc 0 -MAGEA10-MAGEA5P UCSF GRCh37 X 151283771 151283771 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 99 96 0 ENST00000427663.2:n.447G>A *149* ENST00000427663 0 -MAGEA8 UCSF GRCh37 X 149013490 149013490 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 14 113 113 0 ENST00000286482.1:c.444C>T p.Asn148= p.N148= ENST00000286482 NM_005364.4 148 aaC/aaT 0 -MAGEB1 UCSF GRCh37 X 30269223 30269223 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 3 38 56 0 ENST00000378981.3:c.613C>T p.Leu205= p.L205= ENST00000378981 NM_002363.4 205 Ctg/Ttg 0 -MAGEB16 UCSF GRCh37 X 35820630 35820630 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 66 68 0 ENST00000399985.1:c.317G>A p.Arg106Lys p.R106K ENST00000399985 106 aGg/aAg 0 -MAGI3 UCSF GRCh37 1 114189228 114189228 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 126 106 162 0 ENST00000307546.9:c.2119G>A p.Val707Ile p.V707I ENST00000307546 NM_001142782.1 707 Gtc/Atc 0 -MAGI3 UCSF GRCh37 1 114196583 114196583 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 171 116 310 0 ENST00000307546.9:c.2572G>A p.Glu858Lys p.E858K ENST00000307546 NM_001142782.1 858 Gaa/Aaa 0 -MAGI3 UCSF GRCh37 1 114226361 114226361 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 106 199 0 ENST00000307546.9:c.4171G>A p.Gly1391Arg p.G1391R ENST00000307546 NM_001142782.1 1391 Gga/Aga 0 -MAL2 UCSF GRCh37 8 120252508 120252508 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 161 120 221 0 ENST00000276681.6:c.407C>T p.Thr136Ile p.T136I ENST00000276681 NM_052886.2 136 aCc/aTc 0 -MAMDC2 UCSF GRCh37 9 72840741 72840741 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 69 40 92 0 ENST00000377182.4:c.1987C>T p.Pro663Ser p.P663S ENST00000377182 NM_153267.4 663 Ccc/Tcc 0 -MANBA UCSF GRCh37 4 103571823 103571823 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 92 188 0 ENST00000226578.4:c.1740G>A p.Lys580= p.K580= ENST00000226578 NM_005908.3 580 aaG/aaA 0 -MANEA UCSF GRCh37 6 96034533 96034533 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 91 176 0 ENST00000358812.4:c.218C>T p.Thr73Ile p.T73I ENST00000358812 NM_024641.3 73 aCc/aTc 0 -MAP1B UCSF GRCh37 5 71491723 71491723 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 140 284 0 ENST00000296755.7:c.2541G>A p.Glu847= p.E847= ENST00000296755 NM_005909.3 847 gaG/gaA 0 -MAP2K4 UCSF GRCh37 17 12016621 12016621 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 108 84 203 0 ENST00000353533.5:c.757C>T p.Gln253Ter p.Q253* ENST00000353533 NM_003010.3 253 Cag/Tag 0 -MAP3K1 UCSF GRCh37 5 56174819 56174819 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 86 186 0 ENST00000399503.3:c.1978G>A p.Ala660Thr p.A660T ENST00000399503 NM_005921.1 660 Gcc/Acc 0 -MAP3K1 UCSF GRCh37 5 56177605 56177605 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 91 186 0 ENST00000399503.3:c.2578G>A p.Ala860Thr p.A860T ENST00000399503 NM_005921.1 860 Gca/Aca 0 -MAP3K15 UCSF GRCh37 X 19444406 19444406 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 103 92 0 ENST00000338883.4:c.1222G>A p.Val408Ile p.V408I ENST00000338883 NM_001001671.3 408 Gtt/Att 0 -MAP3K4 UCSF GRCh37 6 161469930 161469930 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 52 135 0 ENST00000392142.4:c.626C>T p.Pro209Leu p.P209L ENST00000392142 NM_005922.2 209 cCt/cTt 0 -MAPK10 UCSF GRCh37 4 87022299 87022299 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 73 130 0 ENST00000359221.3:c.636G>A p.Arg212= p.R212= ENST00000359221 212 agG/agA 0 -MAPKAPK3 UCSF GRCh37 3 50655216 50655216 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 30 67 0 ENST00000357955.2:c.219+1G>A p.X73_splice ENST00000357955 NM_001243925.1 0 -MAPKBP1 UCSF GRCh37 15 42116180 42116180 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 64 166 0 ENST00000456763.2:c.4152C>T p.Asn1384= p.N1384= ENST00000456763 NM_001128608.1 1384 aaC/aaT 0 -MARCH6 UCSF GRCh37 5 10394868 10394868 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 26 64 0 ENST00000274140.5:c.832C>T p.Leu278= p.L278= ENST00000274140 NM_005885.3 278 Cta/Tta 0 -MARS2 UCSF GRCh37 2 198570902 198570902 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 59 136 0 ENST00000282276.6:c.773G>A p.Arg258Lys p.R258K ENST00000282276 NM_138395.3 258 aGa/aAa 0 -MAST3 UCSF GRCh37 19 18256562 18256562 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 14 32 0 ENST00000262811.6:c.2962G>A p.Asp988Asn p.D988N ENST00000262811 NM_015016.1 988 Gac/Aac 0 -MASTL UCSF GRCh37 10 27448577 27448577 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 247 87 200 0 ENST00000375940.4:c.354C>T p.Val118= p.V118= ENST00000375940 118 gtC/gtT 0 -MATR3 UCSF GRCh37 5 138657666 138657666 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 75 190 0 ENST00000394805.3:c.1682G>A p.Gly561Glu p.G561E ENST00000394805 NM_001194955.1 561 gGg/gAg 0 -MAVS UCSF GRCh37 20 3845391 3845391 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0015 P18_Rec Untested WXS Illumina HiSeq 88 71 143 0 ENST00000428216.2:c.1114G>A p.Val372Met p.V372M ENST00000428216 NM_020746.4 372 Gtg/Atg 0 -MBD3 UCSF GRCh37 19 1585198 1585198 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 17 31 0 ENST00000434436.3:c.126G>A p.Lys42= p.K42= ENST00000434436 NM_001281453.1 42 aaG/aaA 0 -MBD6 UCSF GRCh37 12 57918856 57918856 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 15 44 112 0 ENST00000355673.3:c.337C>T p.Leu113= p.L113= ENST00000355673 NM_052897.3 113 Ctg/Ttg 0 -MBNL3 UCSF GRCh37 X 131540357 131540357 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 11 64 86 0 ENST00000370853.3:c.241G>A p.Glu81Lys p.E81K ENST00000370853 NM_018388.3 81 Gag/Aag 0 -MBOAT7 UCSF GRCh37 19 54677978 54677978 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 64 122 0 ENST00000245615.1:c.1179G>A p.Lys393= p.K393= ENST00000245615 NM_024298.3 393 aaG/aaA 0 -MCCC2 UCSF GRCh37 5 70948514 70948514 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 47 133 0 ENST00000340941.6:c.1507G>A p.Ala503Thr p.A503T ENST00000340941 NM_022132.4 503 Gcg/Acg 0 -MCHR2 UCSF GRCh37 6 100395771 100395771 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 96 251 0 ENST00000281806.2:c.259C>T p.Pro87Ser p.P87S ENST00000281806 NM_001040179.1 87 Cct/Tct 0 -MCM3 UCSF GRCh37 6 52141149 52141149 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 34 83 0 ENST00000229854.7:c.1291G>A p.Val431Met p.V431M ENST00000229854 431 Gtg/Atg 0 -MDH2 UCSF GRCh37 7 75686800 75686800 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 80 48 100 0 ENST00000315758.5:c.308C>T p.Pro103Leu p.P103L ENST00000315758 NM_005918.2 103 cCc/cTc 0 -MDN1 UCSF GRCh37 6 90402360 90402360 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 111 228 0 ENST00000369393.3:c.10389G>A p.Lys3463= p.K3463= ENST00000369393 3463 aaG/aaA 0 -MED11 UCSF GRCh37 17 4636437 4636437 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 53 87 0 ENST00000293777.5:c.309G>A p.Lys103= p.K103= ENST00000293777 NM_001001683.2 103 aaG/aaA 0 -MED13 UCSF GRCh37 17 60042453 60042453 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 57 132 0 ENST00000397786.2:c.4758G>A p.Gly1586= p.G1586= ENST00000397786 NM_005121.2 1586 ggG/ggA 0 -MED13L UCSF GRCh37 12 116429432 116429432 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 46 131 0 ENST00000281928.3:c.3327C>T p.Leu1109= p.L1109= ENST00000281928 NM_015335.4 1109 ctC/ctT 0 -MED27 UCSF GRCh37 9 134889740 134889740 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 68 110 0 ENST00000292035.5:c.463C>T p.Leu155Phe p.L155F ENST00000292035 NM_004269.3 155 Ctt/Ttt 0 -MED27 UCSF GRCh37 9 134889742 134889742 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 59 109 0 ENST00000292035.5:c.461C>T p.Thr154Ile p.T154I ENST00000292035 NM_004269.3 154 aCt/aTt 0 -MED28 UCSF GRCh37 4 17625266 17625266 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 62 144 0 ENST00000237380.7:c.382C>T p.Leu128= p.L128= ENST00000237380 NM_025205.3 128 Cta/Tta 0 -MED4 UCSF GRCh37 13 48669160 48669160 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 27 58 0 ENST00000258648.2:c.55G>A p.Gly19Arg p.G19R ENST00000258648 NM_014166.3 19 Gga/Aga 0 -MED4 UCSF GRCh37 13 48669152 48669152 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 30 45 0 ENST00000258648.2:c.63G>A p.Ala21= p.A21= ENST00000258648 NM_014166.3 21 gcG/gcA 0 -MEGF6 UCSF GRCh37 1 3407119 3407119 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 9 33 0 ENST00000356575.4:c.4599C>T p.Ser1533= p.S1533= ENST00000356575 NM_001409.3 1533 tcC/tcT 0 -MEGF8 UCSF GRCh37 19 42860343 42860343 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 7 7 27 0 ENST00000251268.6:c.4501G>A p.Ala1501Thr p.A1501T ENST00000251268 1501 Gcc/Acc 0 -MEOX2 UCSF GRCh37 7 15725839 15725839 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 11 32 0 ENST00000262041.5:c.189G>A p.Gln63= p.Q63= ENST00000262041 NM_005924.4 63 caG/caA 0 -MEP1A UCSF GRCh37 6 46797172 46797172 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 144 105 216 0 ENST00000230588.4:c.1008C>T p.Tyr336= p.Y336= ENST00000230588 NM_005588.2 336 taC/taT 0 -MEPCE UCSF GRCh37 7 100030654 100030654 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 83 176 0 ENST00000310512.2:c.1784G>A p.Gly595Asp p.G595D ENST00000310512 NM_019606.5 595 gGc/gAc 0 -METTL22 UCSF GRCh37 16 8722649 8722649 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 138 62 130 1 ENST00000381920.3:c.196G>A p.Gly66Ser p.G66S ENST00000381920 NM_024109.2 66 Ggt/Agt 0 -METTL3 UCSF GRCh37 14 21967728 21967728 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 123 99 207 0 ENST00000298717.4:c.1360G>A p.Glu454Lys p.E454K ENST00000298717 NM_019852.3 454 Gaa/Aaa 0 -MEX3C UCSF GRCh37 18 48703067 48703067 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 110 218 0 ENST00000406189.3:c.1634C>T p.Ser545Phe p.S545F ENST00000406189 NM_016626.4 545 tCt/tTt 0 -MFRP UCSF GRCh37 11 119215654 119215654 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 6 24 0 ENST00000449574.2:c.702C>T p.Val234= p.V234= ENST00000449574 234 gtC/gtT 0 -MGA UCSF GRCh37 15 42041421 42041421 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 227 176 332 0 ENST00000219905.7:c.5616G>A p.Gly1872= p.G1872= ENST00000219905 NM_001164273.1 1872 ggG/ggA 0 -MGMT UCSF GRCh37 10 131506280 131506280 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 87 173 0 ENST00000306010.7:c.340G>A p.Ala114Thr p.A114T ENST00000306010 NM_002412.3 114 Gct/Act 0 -MGRN1 UCSF GRCh37 16 4732837 4732837 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 15 51 0 ENST00000399577.5:c.1372C>T p.Pro458Ser p.P458S ENST00000399577 NM_001142290.2 458 Ccg/Tcg 0 -MGRN1 UCSF GRCh37 16 4730053 4730053 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 45 103 0 ENST00000399577.5:c.1086G>A p.Lys362= p.K362= ENST00000399577 NM_001142290.2 362 aaG/aaA 0 -MGST1 UCSF GRCh37 12 16510545 16510545 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 41 106 0 ENST00000010404.2:c.133G>A p.Ala45Thr p.A45T ENST00000010404 NM_145792.2 45 Gcc/Acc 0 -MIA3 UCSF GRCh37 1 222826618 222826618 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 72 164 0 ENST00000344922.5:c.4258G>A p.Glu1420Lys p.E1420K ENST00000344922 NM_198551.2 1420 Gaa/Aaa 0 -MIA3 UCSF GRCh37 1 222802863 222802863 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 69 168 0 ENST00000344922.5:c.2301G>A p.Gly767= p.G767= ENST00000344922 NM_198551.2 767 ggG/ggA 0 -MID2 UCSF GRCh37 X 107084129 107084129 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 24 111 120 0 ENST00000262843.6:c.234C>T p.Thr78= p.T78= ENST00000262843 NM_052817.2 78 acC/acT 0 -MIER1 UCSF GRCh37 1 67396083 67396083 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 17 39 0 ENST00000355356.3:c.9G>A p.Glu3= p.E3= ENST00000355356 NM_001077701.2 3 gaG/gaA 0 -MIER2 UCSF GRCh37 19 327170 327170 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 103 187 0 ENST00000264819.4:c.456C>T p.Ser152= p.S152= ENST00000264819 NM_017550.1 152 tcC/tcT 0 -MKI67 UCSF GRCh37 10 129911709 129911709 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 150 89 219 0 ENST00000368654.3:c.1638C>T p.Val546= p.V546= ENST00000368654 NM_002417.4 546 gtC/gtT 0 -MKL2 UCSF GRCh37 16 14340383 14340383 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 154 73 141 0 ENST00000318282.5:c.1266C>T p.Thr422= p.T422= ENST00000318282 422 acC/acT 0 -MLL UCSF GRCh37 11 118360597 118360597 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 85 141 0 ENST00000389506.5:c.4570G>A p.Val1524Ile p.V1524I ENST00000389506 1524 Gtc/Atc 0 -MLL2 UCSF GRCh37 12 49431402 49431402 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 9 32 60 0 ENST00000301067.7:c.9737C>T p.Pro3246Leu p.P3246L ENST00000301067 NM_003482.3 3246 cCc/cTc 0 -MLL2 UCSF GRCh37 12 49431257 49431257 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 25 78 0 ENST00000301067.7:c.9882C>T p.Ala3294= p.A3294= ENST00000301067 NM_003482.3 3294 gcC/gcT 0 -MLL3 UCSF GRCh37 7 151875061 151875061 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 76 45 119 0 ENST00000262189.6:c.7477C>T p.Pro2493Ser p.P2493S ENST00000262189 NM_170606.2 2493 Ccg/Tcg 0 -MLL4 UCSF GRCh37 19 36218834 36218834 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 17 21 0 ENST00000420124.1:c.4445G>A p.Gly1482Glu p.G1482E ENST00000420124 1482 gGa/gAa 0 -MLL4 UCSF GRCh37 19 36220182 36220182 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 25 50 0 ENST00000420124.1:c.4902C>T p.Ala1634= p.A1634= ENST00000420124 1634 gcC/gcT 0 -MLL4 UCSF GRCh37 19 36221731 36221731 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 37 20 76 0 ENST00000420124.1:c.5400G>A p.Glu1800= p.E1800= ENST00000420124 1800 gaG/gaA 0 -MLLT10 UCSF GRCh37 10 21827796 21827796 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.300,1000g2011may_all_0.31727,snp132_rs1802669 P18_Rec Untested WXS Illumina HiSeq 194 83 148 0 ENST00000307729.7:c.195G>A p.Pro65= p.P65= ENST00000307729 65 ccG/ccA 0 -MLPH UCSF GRCh37 2 238419422 238419422 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 18 74 0 ENST00000264605.3:c.316C>T p.Pro106Ser p.P106S ENST00000264605 NM_024101.6 106 Ccc/Tcc 0 -MMAA UCSF GRCh37 4 146567273 146567273 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 156 110 248 0 ENST00000281317.5:c.698G>A p.Gly233Glu p.G233E ENST00000281317 NM_172250.2 233 gGa/gAa 0 -MMACHC UCSF GRCh37 1 45974779 45974779 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 124 222 0 ENST00000401061.4:c.741C>T p.Ser247= p.S247= ENST00000401061 NM_015506.2 247 tcC/tcT 0 -MME UCSF GRCh37 3 154884718 154884718 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 121 200 0 ENST00000360490.2:c.1688C>T p.Pro563Leu p.P563L ENST00000360490 NM_007289.2 563 cCc/cTc 0 -MMP24 UCSF GRCh37 20 33842359 33842359 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 227 191 363 0 ENST00000246186.6:c.619C>T p.Pro207Ser p.P207S ENST00000246186 NM_006690.3 207 Cca/Tca 0 -MMP7 UCSF GRCh37 11 102398543 102398543 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 97 237 0 ENST00000260227.4:c.280G>A p.Glu94Lys p.E94K ENST00000260227 NM_002423.3 94 Gaa/Aaa 0 -MMP8 UCSF GRCh37 11 102584500 102584500 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 170 101 250 0 ENST00000236826.3:c.1279G>A p.Val427Ile p.V427I ENST00000236826 NM_002424.2 427 Gtt/Att 0 -MOGAT3 UCSF GRCh37 7 100841566 100841566 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 33 57 0 ENST00000223114.4:c.574G>A p.Gly192Arg p.G192R ENST00000223114 NM_178176.2 192 Ggg/Agg 0 -MORN4 UCSF GRCh37 10 99379358 99379358 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 122 111 232 0 ENST00000307450.6:c.53G>A p.Gly18Asp p.G18D ENST00000307450 NM_178832.3 18 gGc/gAc 0 -MORN5 UCSF GRCh37 9 124922265 124922265 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 49 152 0 ENST00000373764.3:c.14G>A p.Gly5Glu p.G5E ENST00000373764 NM_198469.2 5 gGg/gAg 0 -MOSC1 UCSF GRCh37 1 220971342 220971342 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.00182 P18_Rec somatic WXS Sanger Illumina HiSeq 196 167 298 0 ENST00000366910.5:c.739G>A p.Asp247Asn p.D247N ENST00000366910 NM_022746.3 247 Gat/Aat 0 -MPDZ UCSF GRCh37 9 13110053 13110053 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 24 119 210 0 ENST00000319217.7:c.5840G>A p.Gly1947Glu p.G1947E ENST00000319217 NM_001261406.1 1947 gGa/gAa 0 -MPO UCSF GRCh37 17 56350997 56350997 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 77 162 0 ENST00000225275.3:c.1399C>T p.Leu467= p.L467= ENST00000225275 NM_000250.1 467 Ctg/Ttg 0 -MRFAP1 UCSF GRCh37 4 6642626 6642626 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 102 166 0 ENST00000320912.4:c.37G>A p.Glu13Lys p.E13K ENST00000320912 NM_001272053.1 13 Gag/Aag 0 -MRPL14 UCSF GRCh37 6 44084277 44084277 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 155 112 234 0 ENST00000372014.3:c.71+1G>A p.X24_splice ENST00000372014 NM_032111.2 0 -MRPL34 UCSF GRCh37 19 17417154 17417154 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 6 25 0 ENST00000252602.1:c.245G>A p.Arg82Gln p.R82Q ENST00000252602 NM_023937.3 82 cGa/cAa 0 -MRPL36 UCSF GRCh37 5 1798955 1798955 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 39 123 0 ENST00000382647.7:c.95G>A p.Gly32Glu p.G32E ENST00000382647 32 gGa/gAa 0 -MRPL52 UCSF GRCh37 14 23299290 23299290 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 35 76 0 ENST00000355151.5:c.60C>T p.Ala20= p.A20= ENST00000355151 NM_181306.2 20 gcC/gcT 0 -MRPL9 UCSF GRCh37 1 151732528 151732528 + stop_lost Nonstop_Mutation SNP A A T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 52 104 0 ENST00000368830.3:c.802T>A p.Ter268LysextTer23 p.*268Kext*23 ENST00000368830 NM_031420.2 268 Taa/Aaa 0 -MRPS16 UCSF GRCh37 10 75011752 75011752 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 34 59 0 ENST00000372945.3:c.43G>A p.Gly15Ser p.G15S ENST00000372945 NM_016065.3 15 Ggc/Agc 0 -MRPS18B UCSF GRCh37 6 30593558 30593558 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 66 132 0 ENST00000259873.4:c.761C>T p.Pro254Leu p.P254L ENST00000259873 NM_014046.3 254 cCt/cTt 0 -MRPS18B UCSF GRCh37 6 30587270 30587270 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 68 120 0 ENST00000259873.4:c.79G>A p.Val27Ile p.V27I ENST00000259873 NM_014046.3 27 Gtt/Att 0 -MRPS5 UCSF GRCh37 2 95773982 95773982 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 78 158 0 ENST00000272418.2:c.575G>A p.Gly192Glu p.G192E ENST00000272418 NM_031902.3 192 gGa/gAa 0 -MS4A6E UCSF GRCh37 11 60105419 60105419 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 47 137 0 ENST00000300182.4:c.353C>T p.Ala118Val p.A118V ENST00000300182 NM_139249.2 118 gCt/gTt 0 -MSH2 UCSF GRCh37 2 47709944 47709944 + synonymous_variant Silent SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 16 56 125 0 ENST00000233146.2:c.2661C>T p.Phe887= p.F887= ENST00000233146 NM_000251.2 887 ttC/ttT 0 -MSH3 UCSF GRCh37 5 79974745 79974745 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 159 94 193 0 ENST00000265081.6:c.1174-1G>A p.X392_splice ENST00000265081 NM_002439.4 0 -MSH5 UCSF GRCh37 6 31713013 31713013 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 72 53 118 0 ENST00000375750.3:c.684-1G>A p.X228_splice ENST00000375750 NM_172165.3 0 -MSLNL UCSF GRCh37 16 830474 830474 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 203 75 196 0 ENST00000442466.1:c.38-312C>T *13* ENST00000442466 0 -MST4 UCSF GRCh37 X 131206346 131206346 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 14 44 63 0 ENST00000394334.2:c.983C>T p.Thr328Ile p.T328I ENST00000394334 NM_016542.3 328 aCc/aTc 0 -MTA1 UCSF GRCh37 14 105927194 105927194 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 51 31 60 0 ENST00000331320.7:c.846G>A p.Arg282= p.R282= ENST00000331320 NM_004689.3 282 agG/agA 0 -MTA2 UCSF GRCh37 11 62361989 62361989 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 84 183 0 ENST00000278823.2:c.1691C>T p.Thr564Ile p.T564I ENST00000278823 NM_004739.3 564 aCt/aTt 0 -MTF1 UCSF GRCh37 1 38280883 38280883 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 65 138 0 ENST00000373036.4:c.2187G>A p.Pro729= p.P729= ENST00000373036 NM_005955.2 729 ccG/ccA 0 -MTL5 UCSF GRCh37 11 68518092 68518092 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 5 22 0 ENST00000255087.5:c.37C>T p.Pro13Ser p.P13S ENST00000255087 NM_004923.3 13 Ccc/Tcc 0 -MTMR3 UCSF GRCh37 22 30394841 30394841 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 0 25 44 0 ENST00000401950.2:c.552G>A p.Lys184= p.K184= ENST00000401950 NM_021090.3 184 aaG/aaA 0 -MTR UCSF GRCh37 1 237001873 237001873 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 75 153 0 ENST00000366577.5:c.1489G>A p.Val497Ile p.V497I ENST00000366577 NM_000254.2 497 Gtc/Atc 0 -MTSS1L UCSF GRCh37 16 70698214 70698214 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 13 16 0 ENST00000338779.6:c.1610C>T p.Ala537Val p.A537V ENST00000338779 NM_138383.2 537 gCc/gTc 0 -MTSS1L UCSF GRCh37 16 70698015 70698015 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 8 19 0 ENST00000338779.6:c.1809C>T p.Gly603= p.G603= ENST00000338779 NM_138383.2 603 ggC/ggT 0 -MTUS1 UCSF GRCh37 8 17612340 17612340 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 193 121 283 0 ENST00000262102.6:c.977G>A p.Ser326Asn p.S326N ENST00000262102 NM_001001924.2 326 aGc/aAc 0 -MTUS1 UCSF GRCh37 8 17612346 17612346 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 197 117 273 0 ENST00000262102.6:c.971C>T p.Ser324Leu p.S324L ENST00000262102 NM_001001924.2 324 tCa/tTa 0 -MTX2 UCSF GRCh37 2 177193039 177193039 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 146 110 193 0 ENST00000249442.6:c.304G>A p.Gly102Arg p.G102R ENST00000249442 NM_006554.4 102 Ggg/Agg 0 -MUC12 UCSF GRCh37 7 100644479 100644479 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 351 160 480 0 ENST00000379442.3:c.11064G>A p.Gln3688= p.Q3688= ENST00000379442 3688 caG/caA 0 -MUC13 UCSF GRCh37 3 124646780 124646780 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 127 95 189 0 ENST00000311075.3:c.110G>A p.Gly37Asp p.G37D ENST00000311075 NM_033049.3 37 gGt/gAt 0 -MUC13 UCSF GRCh37 3 124646678 124646678 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 203 155 301 0 ENST00000311075.3:c.212C>T p.Pro71Leu p.P71L ENST00000311075 NM_033049.3 71 cCc/cTc 0 -MUC16 UCSF GRCh37 19 8993478 8993478 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 143 106 219 0 ENST00000397910.4:c.41611C>T p.Pro13871Ser p.P13871S ENST00000397910 NM_024690.2 13871 Cct/Tct 0 -MUC16 UCSF GRCh37 19 9049298 9049298 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 244 185 382 0 ENST00000397910.4:c.32333C>T p.Ser10778Leu p.S10778L ENST00000397910 NM_024690.2 10778 tCg/tTg 0 -MUC16 UCSF GRCh37 19 9061560 9061560 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.024,1000g2011may_all_0.0668,snp132_rs56807558 P18_Rec Untested WXS Illumina HiSeq 212 49 324 0 ENST00000397910.4:c.25886C>T p.Thr8629Met p.T8629M ENST00000397910 NM_024690.2 8629 aCg/aTg 0 -MUC16 UCSF GRCh37 19 9066635 9066635 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 247 194 388 0 ENST00000397910.4:c.20811G>A p.Glu6937= p.E6937= ENST00000397910 NM_024690.2 6937 gaG/gaA 0 -MUC16 UCSF GRCh37 19 9061022 9061022 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 223 145 306 0 ENST00000397910.4:c.26424C>T p.Ser8808= p.S8808= ENST00000397910 NM_024690.2 8808 agC/agT 0 -MUC16 UCSF GRCh37 19 9066128 9066128 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 166 127 290 0 ENST00000397910.4:c.21318C>T p.Thr7106= p.T7106= ENST00000397910 NM_024690.2 7106 acC/acT 0 -MUC17 UCSF GRCh37 7 100696713 100696713 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 24 80 0 ENST00000306151.4:c.13359C>T p.Cys4453= p.C4453= ENST00000306151 NM_001040105.1 4453 tgC/tgT 0 -MUC17 UCSF GRCh37 7 100678195 100678195 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 257 176 371 0 ENST00000306151.4:c.3498T>C p.Pro1166= p.P1166= ENST00000306151 NM_001040105.1 1166 ccT/ccC 0 -MUC4 UCSF GRCh37 3 195513137 195513137 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 694 100 828 0 ENST00000463781.3:c.5314G>A p.Ala1772Thr p.A1772T ENST00000463781 NM_018406.6 1772 Gct/Act 0 -MUC4 UCSF GRCh37 3 195513194 195513194 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 451 167 617 0 ENST00000463781.3:c.5257G>A p.Ala1753Thr p.A1753T ENST00000463781 NM_018406.6 1753 Gca/Aca 0 -MVP UCSF GRCh37 16 29856151 29856151 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 77 149 0 ENST00000357402.5:c.1972G>A p.Val658Ile p.V658I ENST00000357402 NM_017458.3 658 Gtc/Atc 0 -MVP UCSF GRCh37 16 29842379 29842379 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 19 43 0 ENST00000357402.5:c.306G>A p.Gly102= p.G102= ENST00000357402 NM_017458.3 102 ggG/ggA 0 -MYBBP1A UCSF GRCh37 17 4455460 4455460 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 53 104 0 ENST00000254718.4:c.865G>A p.Val289Met p.V289M ENST00000254718 289 Gtg/Atg 0 -MYBPC1 UCSF GRCh37 12 102036311 102036311 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 30 54 0 ENST00000550270.1:c.705C>T p.Arg235= p.R235= ENST00000550270 235 cgC/cgT 0 -MYBPC2 UCSF GRCh37 19 50944141 50944141 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 26 55 0 ENST00000357701.5:c.577G>A p.Val193Met p.V193M ENST00000357701 NM_004533.3 193 Gtg/Atg 0 -MYCBP2 UCSF GRCh37 13 77635855 77635855 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 30 112 0 ENST00000357337.6:c.12731G>A p.Cys4244Tyr p.C4244Y ENST00000357337 4244 tGt/tAt 0 -MYCBP2 UCSF GRCh37 13 77669565 77669565 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 58 137 0 ENST00000357337.6:c.10013C>T p.Pro3338Leu p.P3338L ENST00000357337 3338 cCc/cTc 0 -MYCBP2 UCSF GRCh37 13 77763129 77763129 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 55 178 0 ENST00000357337.6:c.4094C>T p.Pro1365Leu p.P1365L ENST00000357337 1365 cCt/cTt 0 -MYH10 UCSF GRCh37 17 8381764 8381764 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 47 133 0 ENST00000269243.4:c.5505G>A p.Lys1835= p.K1835= ENST00000269243 NM_005964.3 1835 aaG/aaA 0 -MYH13 UCSF GRCh37 17 10231375 10231375 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 68 163 0 ENST00000252172.4:c.2499G>A p.Trp833Ter p.W833* ENST00000252172 NM_003802.2 833 tgG/tgA 0 -MYH13 UCSF GRCh37 17 10212743 10212743 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 18 21 34 0 ENST00000252172.4:c.4977G>A p.Leu1659= p.L1659= ENST00000252172 NM_003802.2 1659 ctG/ctA 0 -MYH15 UCSF GRCh37 3 108156540 108156540 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 142 106 246 0 ENST00000273353.3:c.3142G>A p.Gly1048Ser p.G1048S ENST00000273353 NM_014981.1 1048 Ggt/Agt 0 -MYH2 UCSF GRCh37 17 10447245 10447245 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 174 124 272 0 ENST00000245503.5:c.622G>A p.Glu208Lys p.E208K ENST00000245503 NM_017534.5 208 Gaa/Aaa 0 -MYH3 UCSF GRCh37 17 10533424 10533424 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 181 120 253 0 ENST00000583535.1:c.5547G>A p.Lys1849= p.K1849= ENST00000583535 NM_002470.3 1849 aaG/aaA 0 -MYH4 UCSF GRCh37 17 10353882 10353882 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 90 168 1 ENST00000255381.2:c.4069G>A p.Ala1357Thr p.A1357T ENST00000255381 NM_017533.2 1357 Gcc/Acc 0 -MYH4 UCSF GRCh37 17 10355605 10355605 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 90 205 0 ENST00000255381.2:c.3391G>A p.Ala1131Thr p.A1131T ENST00000255381 NM_017533.2 1131 Gcc/Acc 0 -MYH4 UCSF GRCh37 17 10348301 10348301 + stop_gained Nonsense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 145 113 226 0 ENST00000255381.2:c.5458G>T p.Glu1820Ter p.E1820* ENST00000255381 NM_017533.2 1820 Gag/Tag 0 -MYH6 UCSF GRCh37 14 23868031 23868031 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 77 162 0 ENST00000356287.3:c.1797G>A p.Lys599= p.K599= ENST00000356287 599 aaG/aaA 0 -MYH9 UCSF GRCh37 22 36684872 36684872 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 82 170 0 ENST00000216181.5:c.4671G>A p.Arg1557= p.R1557= ENST00000216181 NM_002473.4 1557 cgG/cgA 0 -MYL1 UCSF GRCh37 2 211163168 211163168 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 113 65 179 0 ENST00000352451.3:c.280G>T p.Val94Phe p.V94F ENST00000352451 NM_079420.2 94 Gtt/Ttt 0 -MYL12B UCSF GRCh37 18 3277370 3277370 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 138 123 194 0 ENST00000237500.5:c.304G>A p.Val102Ile p.V102I ENST00000237500 NM_033546.3 102 Gtc/Atc 0 -MYLK UCSF GRCh37 3 123383000 123383000 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 135 84 220 0 ENST00000360304.3:c.3937G>A p.Glu1313Lys p.E1313K ENST00000360304 NM_053025.3 1313 Gag/Aag 0 -MYO18A UCSF GRCh37 17 27417083 27417083 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 47 153 0 ENST00000527372.1:c.5422G>A p.Glu1808Lys p.E1808K ENST00000527372 NM_078471.3 1808 Gag/Aag 0 -MYO1F UCSF GRCh37 19 8616672 8616672 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 70 132 0 ENST00000338257.8:c.723C>T p.Thr241= p.T241= ENST00000338257 NM_012335.3 241 acC/acT 0 -MYO5C UCSF GRCh37 15 52548869 52548869 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 95 214 0 ENST00000261839.7:c.1362C>T p.Tyr454= p.Y454= ENST00000261839 NM_018728.3 454 taC/taT 0 -MYO9A UCSF GRCh37 15 72190819 72190819 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 129 252 0 ENST00000356056.5:c.4025G>A p.Ser1342Asn p.S1342N ENST00000356056 NM_006901.3 1342 aGc/aAc 0 -MYO9B UCSF GRCh37 19 17273863 17273863 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 64 55 103 0 ENST00000594824.1:c.1602G>A p.Gln534= p.Q534= ENST00000594824 534 caG/caA 0 -MYOC UCSF GRCh37 1 171605628 171605628 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 115 82 160 0 ENST00000037502.6:c.952C>T p.Leu318= p.L318= ENST00000037502 NM_000261.1 318 Ctg/Ttg 0 -MYOF UCSF GRCh37 10 95097607 95097607 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 159 85 232 0 ENST00000359263.4:c.4402G>A p.Gly1468Arg p.G1468R ENST00000359263 NM_013451.3 1468 Gga/Aga 0 -MYOF UCSF GRCh37 10 95069906 95069906 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 56 109 0 ENST00000359263.4:c.6018C>T p.Phe2006= p.F2006= ENST00000359263 NM_013451.3 2006 ttC/ttT 0 -MYOM1 UCSF GRCh37 18 3188831 3188831 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 62 151 0 ENST00000356443.4:c.686C>T p.Ala229Val p.A229V ENST00000356443 NM_019856.1 229 gCt/gTt 0 -MYOM1 UCSF GRCh37 18 3151867 3151867 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 165 97 251 0 ENST00000356443.4:c.1668G>A p.Trp556Ter p.W556* ENST00000356443 NM_019856.1 556 tgG/tgA 0 -MYOM1 UCSF GRCh37 18 3215153 3215153 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 37 107 0 ENST00000356443.4:c.69C>T p.Arg23= p.R23= ENST00000356443 NM_019856.1 23 cgC/cgT 0 -MYOZ3 UCSF GRCh37 5 150056363 150056363 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 86 63 177 0 ENST00000297130.4:c.682C>T p.Leu228Phe p.L228F ENST00000297130 NM_133371.4 228 Ctc/Ttc 0 -MYT1 UCSF GRCh37 20 62839012 62839012 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 74 151 0 ENST00000328439.1:c.463G>A p.Gly155Ser p.G155S ENST00000328439 NM_004535.2 155 Ggc/Agc 0 -MYT1L UCSF GRCh37 2 1796216 1796216 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 46 98 0 ENST00000399161.2:c.3297C>T p.Asn1099= p.N1099= ENST00000399161 NM_015025.2 1099 aaC/aaT 0 -MZF1 UCSF GRCh37 19 59074195 59074195 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 6 9 12 0 ENST00000215057.2:c.1449C>T p.Gly483= p.G483= ENST00000215057 NM_001267033.1 483 ggC/ggT 0 -N4BP2 UCSF GRCh37 4 40103856 40103856 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 157 119 289 0 ENST00000261435.6:c.391G>A p.Asp131Asn p.D131N ENST00000261435 NM_018177.4 131 Gat/Aat 0 -N4BP2 UCSF GRCh37 4 40119559 40119559 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 73 174 0 ENST00000261435.6:c.1735G>A p.Val579Met p.V579M ENST00000261435 NM_018177.4 579 Gtg/Atg 0 -NAA16 UCSF GRCh37 13 41894911 41894911 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 42 150 0 ENST00000379406.3:c.353G>A p.Arg118Lys p.R118K ENST00000379406 NM_024561.4 118 aGg/aAg 0 -NAA35 UCSF GRCh37 9 88593224 88593224 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 130 300 0 ENST00000361671.5:c.805G>A p.Ala269Thr p.A269T ENST00000361671 NM_024635.3 269 Gca/Aca 0 -NACAD UCSF GRCh37 7 45124894 45124894 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 6 13 0 ENST00000490531.2:c.885C>T p.Phe295= p.F295= ENST00000490531 NM_001146334.1 295 ttC/ttT 0 -NADSYN1 UCSF GRCh37 11 71183505 71183505 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 50 108 0 ENST00000319023.2:c.418G>A p.Glu140Lys p.E140K ENST00000319023 NM_018161.4 140 Gag/Aag 0 -NAPSA UCSF GRCh37 19 50861859 50861859 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 24 35 0 ENST00000253719.2:c.1214G>A p.Gly405Glu p.G405E ENST00000253719 NM_004851.1 405 gGa/gAa 0 -NASP UCSF GRCh37 1 46073426 46073426 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 40 111 0 ENST00000350030.3:c.843G>A p.Gln281= p.Q281= ENST00000350030 NM_002482.3 281 caG/caA 0 -NAT10 UCSF GRCh37 11 34153694 34153694 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 229 164 358 0 ENST00000257829.3:c.1543C>T p.Leu515Phe p.L515F ENST00000257829 NM_024662.2 515 Ctc/Ttc 0 -NAT8B UCSF GRCh37 2 73928149 73928149 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 168 138 257 0 ENST00000377712.2:n.284C>T *95* ENST00000377712 0 -NBEA UCSF GRCh37 13 35692373 35692373 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 27 84 0 ENST00000400445.3:c.2091G>A p.Gly697= p.G697= ENST00000400445 NM_015678.4 697 ggG/ggA 0 -NBPF14 UCSF GRCh37 1 148015760 148015760 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 256 156 423 0 ENST00000310701.10:c.888G>A p.Val297Ile p.V297I ENST00000310701 297 Gtc/Atc 0 -NBPF7P UCSF GRCh37 1 120382012 120382012 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 156 150 243 0 ENST00000401014.1:n.1254G>A *418* ENST00000401014 0 -NBPF9 UCSF GRCh37 1 144825474 144825474 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 290 146 467 0 ENST00000375552.4:c.1422G>A p.Ala475Thr p.A475T ENST00000375552 NM_001277444.1 475 Gct/Act 0 -NCAPH2 UCSF GRCh37 22 50956631 50956631 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 40 67 0 ENST00000420993.2:c.570G>A p.Gly190= p.G190= ENST00000420993 NM_001185011.1 190 ggG/ggA 0 -NCKAP1L UCSF GRCh37 12 54905614 54905614 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 73 170 0 ENST00000293373.6:c.763G>A p.Val255Ile p.V255I ENST00000293373 NM_005337.4 255 Gta/Ata 0 -NCKAP5 UCSF GRCh37 2 133540839 133540839 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 153 108 264 0 ENST00000409261.1:c.3545C>T p.Ser1182Phe p.S1182F ENST00000409261 NM_207363.2 1182 tCc/tTc 0 -NCKIPSD UCSF GRCh37 3 48717086 48717086 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 62 147 0 ENST00000294129.2:c.1411G>A p.Asp471Asn p.D471N ENST00000294129 NM_016453.3 471 Gat/Aat 0 -NCOA1 UCSF GRCh37 2 24949505 24949505 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 80 155 0 ENST00000348332.3:c.2647C>T p.Pro883Ser p.P883S ENST00000348332 NM_147233.2 883 Cca/Tca 0 -NCOA2 UCSF GRCh37 8 71069245 71069245 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 110 94 190 0 ENST00000452400.2:c.1355G>A p.Gly452Asp p.G452D ENST00000452400 NM_006540.2 452 gGc/gAc 0 -NCOA3 UCSF GRCh37 20 46264805 46264805 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.018,1000g2011may_all_0.0462,snp132_rs2230781 P18_Rec Untested WXS Illumina HiSeq 107 96 208 0 ENST00000371998.3:c.1675C>T p.Pro559Ser p.P559S ENST00000371998 559 Cca/Tca 0 -NCOR2 UCSF GRCh37 12 124971028 124971028 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 13 29 0 ENST00000405201.1:c.192G>A p.Arg64= p.R64= ENST00000405201 64 cgG/cgA 0 -NCR1 UCSF GRCh37 19 55420876 55420876 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 50 106 0 ENST00000291890.4:c.628G>A p.Val210Ile p.V210I ENST00000291890 NM_004829.6 210 Gtc/Atc 0 -NDC80 UCSF GRCh37 18 2574999 2574999 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 52 113 0 ENST00000261597.4:c.113C>T p.Pro38Leu p.P38L ENST00000261597 NM_006101.2 38 cCa/cTa 0 -NDST1 UCSF GRCh37 5 149901129 149901129 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 72 156 0 ENST00000261797.6:c.313G>A p.Glu105Lys p.E105K ENST00000261797 NM_001543.4 105 Gag/Aag 0 -NDST4 UCSF GRCh37 4 115769441 115769441 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 83 196 0 ENST00000264363.2:c.1870C>T p.Leu624Phe p.L624F ENST00000264363 NM_022569.1 624 Ctc/Ttc 0 -NDUFS1 UCSF GRCh37 2 207011800 207011800 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 73 178 0 ENST00000233190.6:c.564G>A p.Glu188= p.E188= ENST00000233190 NM_005006.6 188 gaG/gaA 0 -NDUFS8 UCSF GRCh37 11 67803812 67803812 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 35 48 0 ENST00000313468.5:c.465C>T p.Phe155= p.F155= ENST00000313468 NM_002496.3 155 ttC/ttT 0 -NEB UCSF GRCh37 2 152424671 152424671 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 75 178 0 ENST00000172853.10:c.12655G>A p.Glu4219Lys p.E4219K ENST00000172853 4219 Gag/Aag 0 -NEB UCSF GRCh37 2 152477474 152477474 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 108 185 0 ENST00000172853.10:c.9790C>T p.Pro3264Ser p.P3264S ENST00000172853 3264 Ccc/Tcc 0 -NEB UCSF GRCh37 2 152424833 152424833 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 89 174 0 ENST00000172853.10:c.12630C>T p.Asp4210= p.D4210= ENST00000172853 4210 gaC/gaT 0 -NEB UCSF GRCh37 2 152468757 152468757 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 168 104 258 0 ENST00000172853.10:c.11019C>T p.Cys3673= p.C3673= ENST00000172853 3673 tgC/tgT 0 -NEBL UCSF GRCh37 10 21134283 21134283 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 111 43 97 0 ENST00000377122.4:c.1131G>A p.Glu377= p.E377= ENST00000377122 NM_006393.2 377 gaG/gaA 0 -NECAB2 UCSF GRCh37 16 84005771 84005771 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 37 41 88 0 ENST00000305202.4:c.217G>A p.Asp73Asn p.D73N ENST00000305202 NM_019065.2 73 Gac/Aac 0 -NEO1 UCSF GRCh37 15 73528829 73528829 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 98 220 0 ENST00000261908.6:c.1433C>T p.Thr478Ile p.T478I ENST00000261908 NM_002499.3 478 aCc/aTc 0 -NETO1 UCSF GRCh37 18 70450940 70450940 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 105 189 0 ENST00000327305.6:c.841C>T p.Gln281Ter p.Q281* ENST00000327305 NM_138966.3 281 Cag/Tag 0 -NEURL4 UCSF GRCh37 17 7220873 7220873 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 69 52 111 0 ENST00000399464.2:c.4225G>A p.Ala1409Thr p.A1409T ENST00000399464 NM_032442.2 1409 Gct/Act 0 -NF1 UCSF GRCh37 17 29587442 29587442 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 182 98 247 0 ENST00000358273.4:c.4486C>T p.Leu1496Phe p.L1496F ENST00000358273 NM_001042492.2 1496 Ctt/Ttt 0 -NF1 UCSF GRCh37 17 29661958 29661958 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 124 73 159 0 ENST00000358273.4:c.5915C>T p.Thr1972Ile p.T1972I ENST00000358273 NM_001042492.2 1972 aCt/aTt 0 -NFATC2IP UCSF GRCh37 16 28965910 28965910 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 271 105 241 0 ENST00000320805.4:c.485G>A p.Gly162Asp p.G162D ENST00000320805 NM_032815.3 162 gGt/gAt 0 -NFIX UCSF GRCh37 19 13192670 13192670 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 35 74 0 ENST00000592199.1:c.1254+1G>A p.X418_splice ENST00000592199 0 -NFIX UCSF GRCh37 19 13136017 13136017 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 67 162 0 ENST00000592199.1:c.210G>A p.Lys70= p.K70= ENST00000592199 70 aaG/aaA 0 -NGEF UCSF GRCh37 2 233748155 233748155 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 10 36 0 ENST00000264051.3:c.1623C>T p.Asp541= p.D541= ENST00000264051 NM_019850.2 541 gaC/gaT 0 -NGEF UCSF GRCh37 2 233839466 233839466 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 153 137 246 0 ENST00000264051.3:c.135C>T p.Asp45= p.D45= ENST00000264051 NM_019850.2 45 gaC/gaT 0 -NHSL1 UCSF GRCh37 6 138752305 138752305 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 38 93 0 ENST00000427025.2:c.3189G>A p.Glu1063= p.E1063= ENST00000427025 NM_020464.1 1063 gaG/gaA 0 -NID2 UCSF GRCh37 14 52527059 52527059 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 32 53 0 ENST00000216286.5:c.550G>A p.Ala184Thr p.A184T ENST00000216286 NM_007361.3 184 Gca/Aca 0 -NIPSNAP1 UCSF GRCh37 22 29966495 29966495 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 23 63 0 ENST00000216121.7:c.125G>A p.Ser42Asn p.S42N ENST00000216121 NM_001202502.1 42 aGc/aAc 0 -NISCH UCSF GRCh37 3 52514312 52514312 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 40 83 0 ENST00000345716.4:c.1528+1G>A p.X510_splice ENST00000345716 NM_007184.3 0 -NLRC5 UCSF GRCh37 16 57111876 57111876 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 16 44 0 ENST00000262510.6:c.5025G>A p.Gly1675= p.G1675= ENST00000262510 NM_032206.4 1675 ggG/ggA 0 -NMUR1 UCSF GRCh37 2 232390053 232390053 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 31 74 0 ENST00000305141.4:c.982G>A p.Asp328Asn p.D328N ENST00000305141 NM_006056.4 328 Gat/Aat 0 -NNT UCSF GRCh37 5 43653298 43653298 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 40 71 0 ENST00000264663.5:c.2042C>T p.Ala681Val p.A681V ENST00000264663 NM_012343.3 681 gCt/gTt 0 -NOD2 UCSF GRCh37 16 50733518 50733518 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 59 136 0 ENST00000300589.2:c.193G>A p.Val65Ile p.V65I ENST00000300589 NM_022162.1 65 Gtc/Atc 0 -NOL11 UCSF GRCh37 17 65720295 65720295 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 70 126 0 ENST00000253247.4:c.650C>T p.Ser217Phe p.S217F ENST00000253247 NM_015462.3 217 tCt/tTt 0 -NOL11 UCSF GRCh37 17 65733707 65733707 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 162 119 267 0 ENST00000253247.4:c.1302G>A p.Gly434= p.G434= ENST00000253247 NM_015462.3 434 ggG/ggA 0 -NOL11 UCSF GRCh37 17 65734319 65734319 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 77 156 0 ENST00000253247.4:c.1611G>A p.Glu537= p.E537= ENST00000253247 NM_015462.3 537 gaG/gaA 0 -NOL8 UCSF GRCh37 9 95060548 95060548 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 39 85 0 ENST00000442668.2:c.3444C>T p.Asn1148= p.N1148= ENST00000442668 NM_017948.5 1148 aaC/aaT 0 -NOP16 UCSF GRCh37 5 175812280 175812280 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 59 164 0 ENST00000510123.1:c.335C>T p.Ser112Phe p.S112F ENST00000510123 NM_001256539.1 112 tCt/tTt 0 -NOTCH4 UCSF GRCh37 6 32168681 32168681 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 12 45 0 ENST00000375023.3:c.4242G>A p.Ala1414= p.A1414= ENST00000375023 NM_004557.3 1414 gcG/gcA 0 -NOX4 UCSF GRCh37 11 89069061 89069061 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 76 147 0 ENST00000263317.4:c.1568G>A p.Arg523His p.R523H ENST00000263317 523 cGt/cAt 0 -NPEPL1 UCSF GRCh37 20 57276164 57276164 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 28 34 0 ENST00000356091.6:c.772G>A p.Val258Met p.V258M ENST00000356091 NM_024663.3 258 Gtg/Atg 0 -NPEPPS UCSF GRCh37 17 45673785 45673785 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 81 49 134 0 ENST00000322157.4:c.1493C>T p.Thr498Ile p.T498I ENST00000322157 NM_006310.3 498 aCc/aTc 0 -NPFFR2 UCSF GRCh37 4 72897682 72897682 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 42 87 0 ENST00000308744.6:c.64G>A p.Ala22Thr p.A22T ENST00000308744 NM_004885.2 22 Gca/Aca 0 -NPHP3 UCSF GRCh37 3 132435724 132435724 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 79 159 0 ENST00000337331.5:c.700G>A p.Gly234Ser p.G234S ENST00000337331 NM_153240.4 234 Ggc/Agc 0 -NPR1 UCSF GRCh37 1 153660173 153660173 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 121 80 184 0 ENST00000368680.3:c.2156C>T p.Ala719Val p.A719V ENST00000368680 NM_000906.3 719 gCt/gTt 0 -NR2F1 UCSF GRCh37 5 92923623 92923623 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 50 128 0 ENST00000327111.3:c.464C>T p.Ala155Val p.A155V ENST00000327111 NM_005654.4 155 gCg/gTg 0 -NR3C1 UCSF GRCh37 5 142779230 142779230 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 80 192 0 ENST00000343796.2:c.1175G>A p.Gly392Asp p.G392D ENST00000343796 NM_001018075.1 392 gGc/gAc 0 -NR4A1 UCSF GRCh37 12 52449925 52449925 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 9 34 88 0 ENST00000243050.1:c.988G>A p.Val330Met p.V330M ENST00000243050 NM_002135.4 330 Gtg/Atg 0 -NR6A1 UCSF GRCh37 9 127302330 127302330 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 154 105 232 0 ENST00000487099.2:c.578G>A p.Gly193Asp p.G193D ENST00000487099 NM_001489.4 193 gGc/gAc 0 -NRF1 UCSF GRCh37 7 129330360 129330360 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 50 128 0 ENST00000223190.4:c.580C>T p.Pro194Ser p.P194S ENST00000223190 194 Cca/Tca 0 -NRM UCSF GRCh37 6 30656569 30656569 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 40 92 0 ENST00000259953.4:c.658C>T p.Leu220Phe p.L220F ENST00000259953 NM_007243.2 220 Ctt/Ttt 0 -NRP2 UCSF GRCh37 2 206608113 206608113 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 68 146 0 ENST00000360409.3:c.1478G>A p.Gly493Glu p.G493E ENST00000360409 NM_003872.2 493 gGa/gAa 0 -NRP2 UCSF GRCh37 2 206610533 206610533 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 10 82 0 ENST00000360409.3:c.1705C>A p.Gln569Lys p.Q569K ENST00000360409 NM_003872.2 569 Cag/Aag 0 -NRSN2 UCSF GRCh37 20 334046 334046 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 45 112 0 ENST00000382285.2:c.382G>A p.Val128Ile p.V128I ENST00000382285 128 Gtt/Att 0 -NSRP1 UCSF GRCh37 17 28512333 28512333 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 71 129 0 ENST00000247026.5:c.1318C>T p.Arg440Ter p.R440* ENST00000247026 NM_032141.3 440 Cga/Tga 0 -NSUN2 UCSF GRCh37 5 6616964 6616964 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 69 158 0 ENST00000264670.6:c.897G>A p.Gln299= p.Q299= ENST00000264670 NM_017755.5 299 caG/caA 0 -NSUN4 UCSF GRCh37 1 46827324 46827324 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 116 217 0 ENST00000474844.1:c.961G>A p.Val321Met p.V321M ENST00000474844 NM_199044.3 321 Gtg/Atg 0 -NT5DC1 UCSF GRCh37 6 116542237 116542237 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 61 136 0 ENST00000319550.4:c.550C>T p.Pro184Ser p.P184S ENST00000319550 NM_152729.2 184 Cca/Tca 0 -NTF4 UCSF GRCh37 19 49564937 49564937 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 17 50 0 ENST00000593537.1:c.318C>T p.Asp106= p.D106= ENST00000593537 106 gaC/gaT 0 -NTN4 UCSF GRCh37 12 96180889 96180889 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 58 161 0 ENST00000343702.4:c.413G>A p.Arg138Lys p.R138K ENST00000343702 NM_021229.3 138 aGg/aAg 0 -NTN5 UCSF GRCh37 19 49173998 49173998 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 19 44 0 ENST00000270235.4:c.246C>T p.Phe82= p.F82= ENST00000270235 NM_145807.1 82 ttC/ttT 0 -NTNG1 UCSF GRCh37 1 107867358 107867358 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 64 150 0 ENST00000370068.1:c.701G>A p.Gly234Glu p.G234E ENST00000370068 234 gGa/gAa 0 -NUDC UCSF GRCh37 1 27268067 27268067 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 36 22 41 0 ENST00000321265.5:c.279G>A p.Lys93= p.K93= ENST00000321265 NM_006600.3 93 aaG/aaA 0 -NUP155 UCSF GRCh37 5 37338020 37338020 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 57 160 0 ENST00000231498.3:c.1247G>A p.Gly416Asp p.G416D ENST00000231498 NM_153485.2 416 gGt/gAt 0 -NUP210 UCSF GRCh37 3 13384708 13384708 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 57 106 0 ENST00000254508.5:c.2931C>T p.Asp977= p.D977= ENST00000254508 NM_024923.3 977 gaC/gaT 0 -NUP210L UCSF GRCh37 1 153974448 153974448 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 57 116 0 ENST00000368559.3:c.4944C>T p.Cys1648= p.C1648= ENST00000368559 NM_207308.2 1648 tgC/tgT 0 -NUP214 UCSF GRCh37 9 134108860 134108860 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 45 102 0 ENST00000359428.5:c.6259G>A p.Gly2087Ser p.G2087S ENST00000359428 NM_005085.3 2087 Ggc/Agc 0 -NUP54 UCSF GRCh37 4 77065364 77065364 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 187 172 336 0 ENST00000264883.3:c.233G>A p.Gly78Asp p.G78D ENST00000264883 NM_001278603.1 78 gGt/gAt 0 -NXF3 UCSF GRCh37 X 102335083 102335083 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 134 153 0 ENST00000395065.3:c.989C>T p.Thr330Ile p.T330I ENST00000395065 NM_022052.1 330 aCc/aTc 0 -OAS2 UCSF GRCh37 12 113446917 113446917 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 141 129 250 0 ENST00000342315.4:c.1921C>T p.Pro641Ser p.P641S ENST00000342315 NM_016817.2 641 Ccc/Tcc 0 -OASL UCSF GRCh37 12 121469348 121469348 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 64 153 0 ENST00000257570.5:c.554G>A p.Gly185Glu p.G185E ENST00000257570 NM_003733.3 185 gGa/gAa 0 -OBSCN UCSF GRCh37 1 228559629 228559629 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 33 61 0 ENST00000422127.1:c.21150C>T p.His7050= p.H7050= ENST00000422127 NM_001098623.2 7050 caC/caT 0 -OCRL UCSF GRCh37 X 128723821 128723821 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 7 79 87 0 ENST00000371113.4:c.2470-1G>A p.X824_splice ENST00000371113 NM_000276.3 0 -ODF2 UCSF GRCh37 9 131262385 131262385 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 76 187 0 ENST00000434106.3:c.2341G>A p.Asp781Asn p.D781N ENST00000434106 NM_153433.1 781 Gat/Aat 0 -ODF3L1 UCSF GRCh37 15 76019491 76019491 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 158 109 206 0 ENST00000332145.2:c.435C>T p.Tyr145= p.Y145= ENST00000332145 NM_175881.3 145 taC/taT 0 -ODF3L2 UCSF GRCh37 19 463984 463984 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 20 36 0 ENST00000315489.4:c.730T>A p.Cys244Ser p.C244S ENST00000315489 NM_182577.2 244 Tgc/Agc 0 -ODZ1 UCSF GRCh37 X 123518169 123518169 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 75 86 0 ENST00000371130.3:c.6591C>T p.Asp2197= p.D2197= ENST00000371130 NM_014253.3 2197 gaC/gaT 0 -ODZ3 UCSF GRCh37 4 183676192 183676192 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 201 138 331 0 ENST00000511685.1:c.4672G>A p.Asp1558Asn p.D1558N ENST00000511685 1558 Gac/Aac 0 -ODZ4 UCSF GRCh37 11 78523317 78523317 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 22 60 0 ENST00000278550.7:c.1828G>A p.Gly610Ser p.G610S ENST00000278550 NM_001098816.2 610 Ggc/Agc 0 -OGFR UCSF GRCh37 20 61444910 61444910 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 32 85 0 ENST00000290291.6:c.1943G>A p.Gly648Glu p.G648E ENST00000290291 NM_007346.2 648 gGa/gAa 0 -OPLAH UCSF GRCh37 8 145114911 145114911 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 14 52 0 ENST00000426825.1:c.25C>T p.His9Tyr p.H9Y ENST00000426825 NM_017570.3 9 Cac/Tac 0 -OPRM1 UCSF GRCh37 6 154412611 154412611 + splice_region_variant,intron_variant Splice_Region SNP C C T snp132_rs79668187 P18_Rec Untested WXS Illumina HiSeq 68 45 107 0 ENST00000330432.7:c.1164+4C>T p.X388_splice ENST00000330432 NM_000914.3 0 -OPTN UCSF GRCh37 10 13152332 13152332 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 197 67 152 0 ENST00000263036.5:c.225G>A p.Trp75Ter p.W75* ENST00000263036 75 tgG/tgA 0 -OR10G3 UCSF GRCh37 14 22038246 22038246 + synonymous_variant Silent SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 125 94 195 0 ENST00000303532.1:c.630T>C p.Ser210= p.S210= ENST00000303532 NM_001005465.1 210 agT/agC 0 -OR10H4 UCSF GRCh37 19 16059991 16059991 + synonymous_variant Silent SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 247 156 320 0 ENST00000322107.1:c.174A>G p.Thr58= p.T58= ENST00000322107 NM_001004465.1 58 acA/acG 0 -OR13C5 UCSF GRCh37 9 107361276 107361276 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 151 121 267 0 ENST00000374779.2:c.419C>T p.Ala140Val p.A140V ENST00000374779 NM_001004482.1 140 gCc/gTc 0 -OR1E1 UCSF GRCh37 17 3301584 3301584 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 130 81 228 0 ENST00000322608.2:c.121G>A p.Gly41Arg p.G41R ENST00000322608 NM_003553.2 41 Ggg/Agg 0 -OR1K1 UCSF GRCh37 9 125563103 125563103 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 53 116 0 ENST00000277309.2:c.702G>A p.Gly234= p.G234= ENST00000277309 NM_080859.1 234 ggG/ggA 0 -OR2A7 UCSF GRCh37 7 143955843 143955843 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Rec Untested WXS Illumina HiSeq 379 76 777 0 ENST00000493325.1:c.879C>A p.Asn293Lys p.N293K ENST00000493325 NM_001005328.1 293 aaC/aaA 0 -OR2B3 UCSF GRCh37 6 29054995 29054995 + stop_gained Nonsense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 59 104 0 ENST00000377173.2:c.31G>T p.Glu11Ter p.E11* ENST00000377173 NM_001005226.2 11 Gag/Tag 0 -OR2G2 UCSF GRCh37 1 247752168 247752168 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 154 113 201 0 ENST00000320065.1:c.507G>A p.Leu169= p.L169= ENST00000320065 NM_001001915.1 169 ctG/ctA 0 -OR2G3 UCSF GRCh37 1 247769095 247769095 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 215 167 345 0 ENST00000320002.2:c.208G>A p.Asp70Asn p.D70N ENST00000320002 NM_001001914.1 70 Gac/Aac 0 -OR2M7 UCSF GRCh37 1 248487743 248487743 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 197 166 324 0 ENST00000317965.2:c.128C>T p.Ser43Phe p.S43F ENST00000317965 NM_001004691.1 43 tCc/tTc 0 -OR2T27 UCSF GRCh37 1 248813649 248813649 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 32 108 0 ENST00000344889.3:c.537C>T p.Cys179= p.C179= ENST00000344889 NM_001001824.1 179 tgC/tgT 0 -OR4F6 UCSF GRCh37 15 102346758 102346758 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 72 150 0 ENST00000328882.4:c.836C>T p.Thr279Ile p.T279I ENST00000328882 NM_001005326.1 279 aCt/aTt 0 -OR4S2 UCSF GRCh37 11 55418984 55418984 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 169 131 251 0 ENST00000312422.2:c.605G>A p.Gly202Asp p.G202D ENST00000312422 NM_001004059.2 202 gGt/gAt 0 -OR51F1 UCSF GRCh37 11 4790433 4790433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 101 232 0 ENST00000380383.1:c.736G>A p.Val246Ile p.V246I ENST00000380383 246 Gtc/Atc 0 -OR51I1 UCSF GRCh37 11 5462162 5462162 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 39 119 0 ENST00000380211.1:c.583C>T p.His195Tyr p.H195Y ENST00000380211 NM_001005288.2 195 Cat/Tat 0 -OR56B1 UCSF GRCh37 11 5758081 5758081 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 71 125 0 ENST00000317121.3:c.335C>T p.Ala112Val p.A112V ENST00000317121 NM_001005180.2 112 gCc/gTc 0 -OR5B17 UCSF GRCh37 11 58125703 58125703 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 97 221 0 ENST00000357377.3:c.840C>T p.Ile280= p.I280= ENST00000357377 NM_001005489.1 280 atC/atT 0 -OR5B3 UCSF GRCh37 11 58170526 58170526 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 162 106 248 0 ENST00000309403.2:c.357C>T p.Asp119= p.D119= ENST00000309403 NM_001005469.1 119 gaC/gaT 0 -OR5D14 UCSF GRCh37 11 55563678 55563678 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 185 110 252 0 ENST00000335605.1:c.647T>C p.Ile216Thr p.I216T ENST00000335605 NM_001004735.1 216 aTc/aCc 0 -OR5M10 UCSF GRCh37 11 56344312 56344312 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 230 161 343 0 ENST00000526812.2:c.886G>A p.Asp296Asn p.D296N ENST00000526812 NM_001004741.1 296 Gat/Aat 0 -OR5M9 UCSF GRCh37 11 56230263 56230263 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 58 126 0 ENST00000279791.1:c.615C>T p.Phe205= p.F205= ENST00000279791 NM_001004743.1 205 ttC/ttT 0 -OR6K2 UCSF GRCh37 1 158669593 158669593 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 73 161 0 ENST00000359610.2:c.850C>T p.Pro284Ser p.P284S ENST00000359610 NM_001005279.1 284 Ccc/Tcc 0 -OR6Y1 UCSF GRCh37 1 158517323 158517323 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 39 108 0 ENST00000302617.3:c.573C>T p.Asn191= p.N191= ENST00000302617 NM_001005189.1 191 aaC/aaT 0 -OR7G1 UCSF GRCh37 19 9226257 9226257 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 213 151 323 0 ENST00000541538.1:c.183C>T p.Phe61= p.F61= ENST00000541538 NM_001005192.2 61 ttC/ttT 0 -OR8G1 UCSF GRCh37 11 124120655 124120655 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 180 180 376 0 ENST00000341493.2:c.233C>T p.Thr78Ile p.T78I ENST00000341493 NM_001002905.1 78 aCc/aTc 0 -OR8G2 UCSF GRCh37 11 124095866 124095866 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 224 176 366 0 ENST00000366149.3:n.430C>T *144* ENST00000366149 0 -OR8G5 UCSF GRCh37 11 124135083 124135083 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 205 168 330 0 ENST00000524943.2:c.361G>A p.Val121Met p.V121M ENST00000524943 NM_001005198.1 121 Gtg/Atg 0 -ORC1 UCSF GRCh37 1 52859350 52859350 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 76 165 0 ENST00000371566.1:c.847C>T p.Leu283Phe p.L283F ENST00000371566 283 Ctt/Ttt 0 -ORC1 UCSF GRCh37 1 52850228 52850228 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 72 154 0 ENST00000371566.1:c.1749C>T p.Ile583= p.I583= ENST00000371566 583 atC/atT 0 -ORC4 UCSF GRCh37 2 148710093 148710093 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 51 176 0 ENST00000264169.2:c.437G>A p.Gly146Asp p.G146D ENST00000264169 NM_181742.3 146 gGt/gAt 0 -ORMDL2 UCSF GRCh37 12 56212905 56212905 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 52 141 0 ENST00000243045.5:c.122C>T p.Pro41Leu p.P41L ENST00000243045 NM_014182.4 41 cCc/cTc 0 -OTOGL UCSF GRCh37 12 80665526 80665526 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 125 248 0 ENST00000547103.1:c.2590C>T p.Leu864= p.L864= ENST00000547103 864 Cta/Tta 0 -OTOL1 UCSF GRCh37 3 161220824 161220824 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 35 87 0 ENST00000327928.4:c.528C>T p.Gly176= p.G176= ENST00000327928 NM_001080440.1 176 ggC/ggT 0 -OTOR UCSF GRCh37 20 16730562 16730562 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 47 35 72 0 ENST00000246081.2:c.270C>T p.Gly90= p.G90= ENST00000246081 NM_020157.3 90 ggC/ggT 0 -OTUD6B UCSF GRCh37 8 92090594 92090594 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 32 95 0 ENST00000404789.3:c.23C>T p.Ala8Val p.A8V ENST00000404789 NM_001286745.1 8 gCt/gTt 0 -OTUD7B UCSF GRCh37 1 149921614 149921614 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 76 53 106 0 ENST00000369135.4:c.1041C>T p.Arg347= p.R347= ENST00000369135 NM_020205.3 347 cgC/cgT 0 -OXCT1 UCSF GRCh37 5 41850167 41850167 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 72 45 122 0 ENST00000196371.5:c.529G>A p.Asp177Asn p.D177N ENST00000196371 NM_000436.3 177 Gat/Aat 0 -OXCT1 UCSF GRCh37 5 41803240 41803240 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 127 88 202 0 ENST00000196371.5:c.981C>T p.Leu327= p.L327= ENST00000196371 NM_000436.3 327 ctC/ctT 0 -OXCT1 UCSF GRCh37 5 41870383 41870383 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 20 53 0 ENST00000196371.5:c.78G>A p.Lys26= p.K26= ENST00000196371 NM_000436.3 26 aaG/aaA 0 -OXT UCSF GRCh37 20 3052734 3052734 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 8 8 0 ENST00000217386.2:c.132C>T p.Cys44= p.C44= ENST00000217386 NM_000915.3 44 tgC/tgT 0 -P2RX1 UCSF GRCh37 17 3808555 3808555 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 49 44 110 0 ENST00000225538.3:c.244C>T p.Pro82Ser p.P82S ENST00000225538 NM_002558.3 82 Ccc/Tcc 0 -P4HB UCSF GRCh37 17 79817154 79817154 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 64 161 0 ENST00000331483.4:c.255G>A p.Thr85= p.T85= ENST00000331483 NM_000918.3 85 acG/acA 0 -PACSIN1 UCSF GRCh37 6 34498080 34498080 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 30 29 51 0 ENST00000244458.2:c.849C>T p.Asp283= p.D283= ENST00000244458 283 gaC/gaT 0 -PACSIN1 UCSF GRCh37 6 34496419 34496419 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 88 149 0 ENST00000244458.2:c.221G>A p.Gly74Asp p.G74D ENST00000244458 74 gGc/gAc 0 -PADI4 UCSF GRCh37 1 17681089 17681089 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 67 134 0 ENST00000375448.4:c.1217C>T p.Ser406Phe p.S406F ENST00000375448 NM_012387.2 406 tCc/tTc 0 -PADI4 UCSF GRCh37 1 17668568 17668568 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 49 140 0 ENST00000375448.4:c.783C>T p.Phe261= p.F261= ENST00000375448 NM_012387.2 261 ttC/ttT 0 -PAF1 UCSF GRCh37 19 39880286 39880286 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 84 162 0 ENST00000221265.3:c.286C>T p.Pro96Ser p.P96S ENST00000221265 NM_019088.3 96 Ccc/Tcc 0 -PAFAH1B3 UCSF GRCh37 19 42804127 42804127 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 145 86 208 0 ENST00000262890.3:c.403G>A p.Val135Met p.V135M ENST00000262890 NM_002573.3 135 Gtg/Atg 0 -PAK2 UCSF GRCh37 3 196509539 196509539 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 186 128 250 0 ENST00000327134.3:c.22G>A p.Glu8Lys p.E8K ENST00000327134 NM_002577.4 8 Gaa/Aaa 0 -PALLD UCSF GRCh37 4 169847516 169847516 + downstream_gene_variant 3'Flank SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 69 135 0 ENST00000505667 0 -PALLD UCSF GRCh37 4 169632805 169632805 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 62 143 0 ENST00000505667.1:c.1695C>T p.Pro565= p.P565= ENST00000505667 565 ccC/ccT 0 -PANK2 UCSF GRCh37 20 3891437 3891437 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 129 99 274 0 ENST00000316562.4:c.1195G>A p.Val399Ile p.V399I ENST00000316562 NM_153638.2 399 Gta/Ata 0 -PAPL UCSF GRCh37 19 39590972 39590972 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 113 88 198 0 ENST00000331256.5:c.611G>A p.Gly204Glu p.G204E ENST00000331256 NM_001004318.2 204 gGg/gAg 0 -PAPLN UCSF GRCh37 14 73727430 73727430 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 15 36 0 ENST00000554301.1:c.1999C>T p.Pro667Ser p.P667S ENST00000554301 667 Cct/Tct 0 -PAPOLB UCSF GRCh37 7 4900571 4900571 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 209 174 338 0 ENST00000404991.1:c.868C>T p.Pro290Ser p.P290S ENST00000404991 NM_020144.4 290 Cct/Tct 0 -PAPOLG UCSF GRCh37 2 60987413 60987413 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 82 156 0 ENST00000238714.3:c.162G>A p.Glu54= p.E54= ENST00000238714 NM_022894.3 54 gaG/gaA 0 -PAQR6 UCSF GRCh37 1 156213739 156213739 + 3_prime_UTR_variant 3'UTR SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 128 224 0 ENST00000292291.5:c.*181G>A *61* ENST00000292291 NM_198406.2 0 -PARD3B UCSF GRCh37 2 205990383 205990383 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 169 113 221 0 ENST00000406610.2:c.1356G>A p.Met452Ile p.M452I ENST00000406610 NM_205863.3 452 atG/atA 0 -PARD6A UCSF GRCh37 16 67695000 67695000 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 34 59 0 ENST00000219255.3:c.59G>A p.Ser20Asn p.S20N ENST00000219255 20 aGc/aAc 0 -PARD6A UCSF GRCh37 16 67696373 67696373 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 33 84 0 ENST00000219255.3:c.864G>A p.Glu288= p.E288= ENST00000219255 288 gaG/gaA 0 -PARP3 UCSF GRCh37 3 51978176 51978176 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 120 248 0 ENST00000417220.2:c.255C>T p.Ile85= p.I85= ENST00000417220 85 atC/atT 0 -PARVA UCSF GRCh37 11 12399244 12399244 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 5 14 26 0 ENST00000334956.8:c.170C>T p.Pro57Leu p.P57L ENST00000334956 NM_018222.4 57 cCc/cTc 0 -PATL1 UCSF GRCh37 11 59418277 59418277 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 34 115 0 ENST00000300146.9:c.1534G>A p.Glu512Lys p.E512K ENST00000300146 NM_152716.2 512 Gaa/Aaa 0 -PAX6 UCSF GRCh37 11 31815068 31815068 + missense_variant Missense_Mutation SNP C C T snp132_rs75572362 P18_Rec Untested WXS Illumina HiSeq 101 102 199 0 ENST00000241001.8:c.950G>A p.Arg317Gln p.R317Q ENST00000241001 317 cGa/cAa 0 -PAX7 UCSF GRCh37 1 19062467 19062467 + intron_variant Intron SNP A A T NOVEL P18_Rec Untested WXS Illumina HiSeq 35 10 43 0 ENST00000420770.2:c.1402+95A>T *468* ENST00000420770 NM_001135254.1 0 -PAX8 UCSF GRCh37 2 114002114 114002114 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 174 112 265 0 ENST00000263334.5:c.279G>A p.Gly93= p.G93= ENST00000263334 93 ggG/ggA 0 -PBRM1 UCSF GRCh37 3 52702642 52702642 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 42 92 0 ENST00000296302.7:c.256G>A p.Glu86Lys p.E86K ENST00000296302 86 Gaa/Aaa 0 -PCBP2 UCSF GRCh37 12 53854828 53854828 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 21 79 142 0 ENST00000439930.3:c.405G>A p.Gly135= p.G135= ENST00000439930 135 ggG/ggA 0 -PCDH1 UCSF GRCh37 5 141248699 141248699 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 42 106 0 ENST00000394536.3:c.338C>T p.Thr113Ile p.T113I ENST00000394536 NM_002587.4 113 aCc/aTc 0 -PCDH12 UCSF GRCh37 5 141336753 141336753 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 86 75 141 0 ENST00000231484.3:c.664C>T p.Pro222Ser p.P222S ENST00000231484 NM_016580.3 222 Ccc/Tcc 0 -PCDH19 UCSF GRCh37 X 99661951 99661951 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 15 85 109 0 ENST00000373034.4:c.1645G>A p.Val549Met p.V549M ENST00000373034 NM_001184880.1 549 Gtg/Atg 0 -PCDHA5 UCSF GRCh37 5 140202528 140202528 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 127 93 217 0 ENST00000529859.1:c.1168C>T p.Pro390Ser p.P390S ENST00000529859 NM_018908.2 390 Ccc/Tcc 0 -PCDHB1 UCSF GRCh37 5 140432771 140432771 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 78 167 0 ENST00000306549.3:c.1716C>T p.Pro572= p.P572= ENST00000306549 NM_013340.2 572 ccC/ccT 0 -PCDHB16 UCSF GRCh37 5 140563139 140563139 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 77 177 0 ENST00000361016.2:c.1005G>A p.Leu335= p.L335= ENST00000361016 NM_020957.1 335 ctG/ctA 0 -PCDHB4 UCSF GRCh37 5 140503344 140503344 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 37 115 0 ENST00000194152.1:c.1764G>A p.Val588= p.V588= ENST00000194152 NM_018938.2 588 gtG/gtA 0 -PCDHB6 UCSF GRCh37 5 140531894 140531894 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 69 195 0 ENST00000231136.1:c.2056G>A p.Val686Ile p.V686I ENST00000231136 NM_018939.2 686 Gtc/Atc 0 -PCDHGA1 UCSF GRCh37 5 140711739 140711739 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 169 141 280 0 ENST00000517417.1:c.1488C>T p.Ile496= p.I496= ENST00000517417 NM_018912.2 496 atC/atT 0 -PCDHGA2 UCSF GRCh37 5 140719980 140719980 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 102 249 0 ENST00000394576.2:c.1442G>A p.Ser481Asn p.S481N ENST00000394576 NM_018915.2 481 aGc/aAc 0 -PCDHGA5 UCSF GRCh37 5 140744805 140744805 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 53 108 0 ENST00000518069.1:c.908C>T p.Thr303Ile p.T303I ENST00000518069 NM_018918.2 303 aCt/aTt 0 -PCDHGA8 UCSF GRCh37 5 140774817 140774817 + intron_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 178 120 246 0 ENST00000253812.6:c.2424+48793C>T *808* ENST00000253812 NM_018916.3 0 -PCDHGB1 UCSF GRCh37 5 140729999 140729999 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 46 112 0 ENST00000523390.1:c.172G>A p.Glu58Lys p.E58K ENST00000523390 NM_018922.2 58 Gag/Aag 0 -PCDHGB3 UCSF GRCh37 5 140751620 140751620 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 46 117 0 ENST00000576222.1:c.1659C>T p.Asp553= p.D553= ENST00000576222 NM_018924.2 553 gaC/gaT 0 -PCDHGB4 UCSF GRCh37 5 140768577 140768577 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 83 212 0 ENST00000519479.1:c.1126C>T p.His376Tyr p.H376Y ENST00000519479 NM_003736.2 376 Cac/Tac 0 -PCDHGB6 UCSF GRCh37 5 140789820 140789820 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 74 202 0 ENST00000520790.1:c.2051C>T p.Pro684Leu p.P684L ENST00000520790 NM_018926.2 684 cCc/cTc 0 -PCDHGB7 UCSF GRCh37 5 140798542 140798542 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 155 116 272 0 ENST00000398594.2:c.1116G>A p.Arg372= p.R372= ENST00000398594 NM_018927.3 372 cgG/cgA 0 -PCDP1 UCSF GRCh37 2 120362768 120362768 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 53 130 0 ENST00000413369.3:c.1036G>A p.Gly346Ser p.G346S ENST00000413369 NM_001271049.1 346 Ggc/Agc 0 -PCF11 UCSF GRCh37 11 82875381 82875381 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 109 294 0 ENST00000298281.4:c.640C>T p.Gln214Ter p.Q214* ENST00000298281 NM_015885.3 214 Cag/Tag 0 -PCK2 UCSF GRCh37 14 24572399 24572399 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 24 51 0 ENST00000216780.4:c.1403G>A p.Trp468Ter p.W468* ENST00000216780 NM_004563.2 468 tGg/tAg 0 -PCK2 UCSF GRCh37 14 24572975 24572975 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 64 160 0 ENST00000216780.4:c.1725G>A p.Leu575= p.L575= ENST00000216780 NM_004563.2 575 ctG/ctA 0 -PCLO UCSF GRCh37 7 82583428 82583428 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 253 190 359 0 ENST00000333891.9:c.6841C>T p.Pro2281Ser p.P2281S ENST00000333891 NM_033026.5 2281 Cct/Tct 0 -PCLO UCSF GRCh37 7 82585868 82585868 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 254 159 408 0 ENST00000333891.9:c.4401G>A p.Glu1467= p.E1467= ENST00000333891 NM_033026.5 1467 gaG/gaA 0 -PCLO UCSF GRCh37 7 82579026 82579026 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 115 235 0 ENST00000333891.9:c.10878C>T p.Pro3626= p.P3626= ENST00000333891 NM_033026.5 3626 ccC/ccT 0 -PCNX UCSF GRCh37 14 71518672 71518672 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 97 200 0 ENST00000304743.2:c.4520G>A p.Ser1507Asn p.S1507N ENST00000304743 NM_014982.2 1507 aGt/aAt 0 -PCSK7 UCSF GRCh37 11 117079743 117079743 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 8 73 0 ENST00000320934.3:c.1561G>A p.Gly521Arg p.G521R ENST00000320934 NM_004716.2 521 Ggg/Agg 0 -PCSK7 UCSF GRCh37 11 117100424 117100424 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 26 30 65 0 ENST00000320934.3:c.137G>A p.Gly46Asp p.G46D ENST00000320934 NM_004716.2 46 gGc/gAc 0 -PCYOX1L UCSF GRCh37 5 148742296 148742296 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 111 78 188 0 ENST00000274569.4:c.185C>T p.Thr62Ile p.T62I ENST00000274569 NM_024028.3 62 aCc/aTc 0 -PDE1C UCSF GRCh37 7 31864559 31864559 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 175 112 274 0 ENST00000321453.7:c.1328C>T p.Thr443Met p.T443M ENST00000321453 NM_001191059.1 443 aCg/aTg 0 -PDE1C UCSF GRCh37 7 31887640 31887640 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 159 111 240 0 ENST00000321453.7:c.922C>T p.Leu308Phe p.L308F ENST00000321453 NM_001191059.1 308 Ctt/Ttt 0 -PDE2A UCSF GRCh37 11 72293528 72293528 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 50 118 0 ENST00000334456.5:c.1811C>T p.Thr604Ile p.T604I ENST00000334456 NM_002599.4 604 aCc/aTc 0 -PDE4D UCSF GRCh37 5 59284412 59284412 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 191 147 266 0 ENST00000502484.2:c.175G>A p.Ala59Thr p.A59T ENST00000502484 NM_001165899.1 59 Gct/Act 0 -PDE4DIP UCSF GRCh37 1 144879476 144879476 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 300 83 330 0 ENST00000369354.3:c.3974G>A p.Ser1325Asn p.S1325N ENST00000369354 1325 aGt/aAt 0 -PDE5A UCSF GRCh37 4 120422325 120422325 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 56 138 0 ENST00000354960.3:c.2490G>A p.Glu830= p.E830= ENST00000354960 NM_001083.3 830 gaG/gaA 0 -PDE6B UCSF GRCh37 4 657647 657647 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 20 29 0 ENST00000496514.1:c.2009C>T p.Ala670Val p.A670V ENST00000496514 670 gCc/gTc 0 -PDE6C UCSF GRCh37 10 95385407 95385407 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 53 85 0 ENST00000371447.3:c.939+1G>A p.X313_splice ENST00000371447 NM_006204.3 0 -PDE8A UCSF GRCh37 15 85664105 85664105 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 96 163 0 ENST00000310298.4:c.1812C>T p.Thr604= p.T604= ENST00000310298 604 acC/acT 0 -PDGFA UCSF GRCh37 7 551993 551993 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 20 63 0 ENST00000354513.5:c.260G>A p.Ser87Asn p.S87N ENST00000354513 NM_002607.5 87 aGc/aAc 0 -PDLIM3 UCSF GRCh37 4 186429600 186429600 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 79 168 0 ENST00000284770.5:c.515C>T p.Pro172Leu p.P172L ENST00000284770 NM_014476.5 172 cCt/cTt 0 -PDLIM7 UCSF GRCh37 5 176911158 176911158 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 50 118 0 ENST00000355841.2:c.1084G>A p.Val362Met p.V362M ENST00000355841 NM_005451.4 362 Gtg/Atg 0 -PDLIM7 UCSF GRCh37 5 176915113 176915113 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 75 134 0 ENST00000355841.2:c.1006C>T p.Arg336Cys p.R336C ENST00000355841 NM_005451.4 336 Cgc/Tgc 0 -PDZD2 UCSF GRCh37 5 32087729 32087729 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 40 100 0 ENST00000438447.1:c.4175C>T p.Ala1392Val p.A1392V ENST00000438447 1392 gCc/gTc 0 -PDZD2 UCSF GRCh37 5 31995702 31995702 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 54 141 0 ENST00000438447.1:c.999G>A p.Trp333Ter p.W333* ENST00000438447 333 tgG/tgA 0 -PEG3 UCSF GRCh37 19 57327800 57327800 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 155 106 227 0 ENST00000326441.9:c.2010G>A p.Gln670= p.Q670= ENST00000326441 NM_006210.2 670 caG/caA 0 -PELO UCSF GRCh37 5 52096954 52096954 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 71 142 0 ENST00000274311.2:c.726G>A p.Gln242= p.Q242= ENST00000274311 NM_015946.4 242 caG/caA 0 -PET112 UCSF GRCh37 4 152637283 152637283 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 57 43 110 0 ENST00000263985.6:c.641G>A p.Gly214Glu p.G214E ENST00000263985 NM_004564.2 214 gGa/gAa 0 -PEX13 UCSF GRCh37 2 61272904 61272904 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 24 71 168 0 ENST00000295030.5:c.831C>T p.Ala277= p.A277= ENST00000295030 NM_002618.3 277 gcC/gcT 0 -PEX14 UCSF GRCh37 1 10684432 10684432 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 66 127 0 ENST00000356607.4:c.523G>A p.Glu175Lys p.E175K ENST00000356607 NM_004565.2 175 Gag/Aag 0 -PEX5L UCSF GRCh37 3 179597794 179597794 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 68 141 0 ENST00000467460.1:c.428G>A p.Gly143Glu p.G143E ENST00000467460 NM_001256751.1 143 gGa/gAa 0 -PEX6 UCSF GRCh37 6 42936056 42936056 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 22 60 0 ENST00000304611.8:c.1660C>T p.Leu554Phe p.L554F ENST00000304611 NM_000287.3 554 Ctc/Ttc 0 -PFKM UCSF GRCh37 12 48536631 48536631 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 75 142 0 ENST00000312352.7:c.1720G>A p.Gly574Ser p.G574S ENST00000312352 NM_001166687.1 574 Ggt/Agt 0 -PGLS UCSF GRCh37 19 17628524 17628528 + frameshift_variant Frame_Shift_Del DEL GGAGA GGAGA - NOVEL P18_Rec Untested WXS Illumina HiSeq 49 0 ENST00000252603.2:c.504_508del p.Glu169AspfsTer7 p.E169Dfs*7 ENST00000252603 NM_012088.2 168 cgGGAGAag/cgag 0 -PGM3 UCSF GRCh37 6 83900605 83900605 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 132 82 191 0 ENST00000513973.1:c.127G>A p.Gly43Arg p.G43R ENST00000513973 NM_001199918.1 43 Gga/Aga 0 -PGR UCSF GRCh37 11 100933464 100933464 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 54 140 0 ENST00000325455.5:c.1926C>T p.Phe642= p.F642= ENST00000325455 NM_001202474.3 642 ttC/ttT 0 -PHF12 UCSF GRCh37 17 27233392 27233392 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 47 121 0 ENST00000332830.4:c.2824G>A p.Glu942Lys p.E942K ENST00000332830 NM_001033561.1 942 Gag/Aag 0 -PHF14 UCSF GRCh37 7 11022578 11022578 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 162 134 254 0 ENST00000403050.3:c.692G>A p.Gly231Glu p.G231E ENST00000403050 NM_014660.3 231 gGa/gAa 0 -PHF17 UCSF GRCh37 4 129783248 129783248 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 53 169 0 ENST00000226319.6:c.1371G>A p.Lys457= p.K457= ENST00000226319 NM_199320.2 457 aaG/aaA 0 -PHF6 UCSF GRCh37 X 133547969 133547969 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 106 126 0 ENST00000332070.3:c.702G>A p.Lys234= p.K234= ENST00000332070 NM_032458.2 234 aaG/aaA 0 -PHIP UCSF GRCh37 6 79650787 79650787 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 128 259 0 ENST00000275034.4:c.5089G>A p.Glu1697Lys p.E1697K ENST00000275034 NM_017934.5 1697 Gaa/Aaa 0 -PHKB UCSF GRCh37 16 47533749 47533749 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 131 114 245 0 ENST00000323584.5:c.249G>A p.Lys83= p.K83= ENST00000323584 NM_000293.2 83 aaG/aaA 0 -PHKG2 UCSF GRCh37 16 30767589 30767589 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 86 187 0 ENST00000563588.1:c.643G>A p.Asp215Asn p.D215N ENST00000563588 NM_000294.2 215 Gac/Aac 0 -PHOX2B UCSF GRCh37 4 41750393 41750393 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 29 102 0 ENST00000226382.2:c.235G>A p.Ala79Thr p.A79T ENST00000226382 NM_003924.3 79 Gcc/Acc 0 -PHRF1 UCSF GRCh37 11 606577 606577 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 22 65 0 ENST00000264555.5:c.1590C>T p.Ser530= p.S530= ENST00000264555 NM_020901.2 530 tcC/tcT 0 -PHTF2 UCSF GRCh37 7 77549735 77549735 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 200 130 300 0 ENST00000248550.7:c.916G>A p.Glu306Lys p.E306K ENST00000248550 306 Gaa/Aaa 0 -PHYHD1 UCSF GRCh37 9 131696310 131696310 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 59 108 0 ENST00000372592.3:c.289G>A p.Glu97Lys p.E97K ENST00000372592 NM_001100876.1 97 Gag/Aag 0 -PI4K2B UCSF GRCh37 4 25270136 25270136 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 58 115 0 ENST00000264864.6:c.1150C>T p.Pro384Ser p.P384S ENST00000264864 NM_018323.3 384 Cca/Tca 0 -PIAS1 UCSF GRCh37 15 68473593 68473593 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 186 147 297 0 ENST00000249636.6:c.1525C>T p.Pro509Ser p.P509S ENST00000249636 NM_016166.1 509 Cca/Tca 0 -PIDD UCSF GRCh37 11 799413 799413 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 12 53 112 0 ENST00000347755.5:c.2627G>A p.Gly876Asp p.G876D ENST00000347755 NM_145886.3 876 gGc/gAc 0 -PIEZO2 UCSF GRCh37 18 10680198 10680198 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 59 143 0 ENST00000503781.3:c.7611G>A p.Gln2537= p.Q2537= ENST00000503781 NM_022068.2 2537 caG/caA 0 -PIGL UCSF GRCh37 17 16221183 16221183 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 68 145 0 ENST00000225609.5:c.621C>T p.Val207= p.V207= ENST00000225609 NM_004278.3 207 gtC/gtT 0 -PIGO UCSF GRCh37 9 35095060 35095060 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 61 145 0 ENST00000378617.3:c.503C>T p.Thr168Ile p.T168I ENST00000378617 NM_032634.3 168 aCc/aTc 0 -PIGW UCSF GRCh37 17 34892953 34892953 + start_lost Translation_Start_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 54 148 0 ENST00000592983.1:c.3G>A p.Met1? p.M1? ENST00000592983 1 atG/atA 0 -PIK3CA UCSF GRCh37 3 178936082 178936082 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 76 58 158 0 ENST00000263967.3:c.1624G>A p.Glu542Lys p.E542K ENST00000263967 NM_006218.2 542 Gaa/Aaa 0 -PIK3CA UCSF GRCh37 3 178936076 178936076 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 70 57 153 0 ENST00000263967.3:c.1618C>G p.Leu540Val p.L540V ENST00000263967 NM_006218.2 540 Ctc/Gtc 0 -PIK3CD UCSF GRCh37 1 9775947 9775947 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 22 58 0 ENST00000377346.4:c.411C>T p.Asn137= p.N137= ENST00000377346 NM_005026.3 137 aaC/aaT 0 -PIK3R3 UCSF GRCh37 1 46532727 46532727 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 206 140 288 0 ENST00000262741.5:c.351C>T p.His117= p.H117= ENST00000262741 NM_003629.3 117 caC/caT 0 -PIK3R5 UCSF GRCh37 17 8791876 8791876 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 22 44 0 ENST00000447110.1:c.1228G>A p.Glu410Lys p.E410K ENST00000447110 NM_001251855.1 410 Gaa/Aaa 0 -PIKFYVE UCSF GRCh37 2 209214753 209214753 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 85 197 1 ENST00000264380.4:c.5380G>A p.Val1794Ile p.V1794I ENST00000264380 NM_015040.3 1794 Gta/Ata 0 -PILRB UCSF GRCh37 7 99956627 99956627 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 73 195 0 ENST00000452089.1:c.379G>A p.Val127Ile p.V127I ENST00000452089 127 Gtc/Atc 0 -PINX1 UCSF GRCh37 8 10623210 10623210 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 161 110 230 0 ENST00000314787.3:c.688C>T p.Pro230Ser p.P230S ENST00000314787 NM_017884.4 230 Cct/Tct 0 -PIP5KL1 UCSF GRCh37 9 130688199 130688199 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 34 77 0 ENST00000388747.4:c.710C>T p.Pro237Leu p.P237L ENST00000388747 NM_001135219.1 237 cCc/cTc 0 -PIWIL4 UCSF GRCh37 11 94341853 94341853 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 117 106 177 0 ENST00000299001.6:c.1943+1G>A p.X648_splice ENST00000299001 NM_152431.2 0 -PKD1 UCSF GRCh37 16 2160943 2160943 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 152 39 99 0 ENST00000262304.4:c.4225C>T p.Pro1409Ser p.P1409S ENST00000262304 NM_001009944.2 1409 Ccc/Tcc 0 -PKD1 UCSF GRCh37 16 2164604 2164604 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 8 16 0 ENST00000262304.4:c.2420C>T p.Ser807Phe p.S807F ENST00000262304 NM_001009944.2 807 tCc/tTc 0 -PKD1 UCSF GRCh37 16 2149911 2149911 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 34 69 0 ENST00000262304.4:c.9874C>T p.Leu3292= p.L3292= ENST00000262304 NM_001009944.2 3292 Ctg/Ttg 0 -PKD1 UCSF GRCh37 16 2159333 2159333 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 43 39 0 ENST00000262304.4:c.5835C>T p.Asp1945= p.D1945= ENST00000262304 NM_001009944.2 1945 gaC/gaT 0 -PKD2L1 UCSF GRCh37 10 102051073 102051073 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 110 64 191 0 ENST00000318222.3:c.1992C>T p.Asp664= p.D664= ENST00000318222 NM_016112.2 664 gaC/gaT 0 -PKHD1 UCSF GRCh37 6 51612952 51612952 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 219 170 363 0 ENST00000371117.3:c.9462C>T p.Asp3154= p.D3154= ENST00000371117 NM_138694.3 3154 gaC/gaT 0 -PLA2R1 UCSF GRCh37 2 160832690 160832690 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 47 115 0 ENST00000283243.7:c.2484C>T p.Thr828= p.T828= ENST00000283243 NM_001195641.1 828 acC/acT 0 -PLAGL1 UCSF GRCh37 6 144263210 144263210 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 69 152 0 ENST00000354765.2:c.743C>T p.Ala248Val p.A248V ENST00000354765 248 gCc/gTc 0 -PLAU UCSF GRCh37 10 75673360 75673360 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 180 138 301 0 ENST00000372764.3:c.524C>T p.Pro175Leu p.P175L ENST00000372764 NM_002658.3 175 cCc/cTc 0 -PLAUR UCSF GRCh37 19 44169538 44169538 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 68 155 0 ENST00000340093.3:c.240G>A p.Arg80= p.R80= ENST00000340093 NM_002659.3 80 cgG/cgA 0 -PLCB3 UCSF GRCh37 11 64030184 64030184 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 55 151 0 ENST00000279230.6:c.2259C>T p.Gly753= p.G753= ENST00000279230 753 ggC/ggT 0 -PLCD1 UCSF GRCh37 3 38050863 38050863 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 64 53 133 0 ENST00000334661.4:c.1506C>T p.Val502= p.V502= ENST00000334661 NM_006225.3 502 gtC/gtT 0 -PLCH1 UCSF GRCh37 3 155301352 155301352 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 100 197 0 ENST00000340059.7:c.644G>A p.Arg215Gln p.R215Q ENST00000340059 NM_001130960.1 215 cGa/cAa 0 -PLCL1 UCSF GRCh37 2 198950615 198950615 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 132 93 200 0 ENST00000428675.1:c.2374G>A p.Ala792Thr p.A792T ENST00000428675 NM_006226.3 792 Gcc/Acc 0 -PLCL1 UCSF GRCh37 2 198949378 198949378 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 170 121 257 0 ENST00000428675.1:c.1137G>A p.Gln379= p.Q379= ENST00000428675 NM_006226.3 379 caG/caA 0 -PLEC UCSF GRCh37 8 145007028 145007028 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 12 35 0 ENST00000322810.4:c.2081G>A p.Ser694Asn p.S694N ENST00000322810 NM_201380.2 694 aGc/aAc 0 -PLEC UCSF GRCh37 8 145010156 145010156 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 37 73 0 ENST00000322810.4:c.873G>A p.Gln291= p.Q291= ENST00000322810 NM_201380.2 291 caG/caA 0 -PLEC UCSF GRCh37 8 144992720 144992720 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 16 41 0 ENST00000322810.4:c.11680C>T p.Leu3894= p.L3894= ENST00000322810 NM_201380.2 3894 Ctg/Ttg 0 -PLEKHA6 UCSF GRCh37 1 204197900 204197900 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 59 113 0 ENST00000272203.3:c.2841G>A p.Lys947= p.K947= ENST00000272203 NM_014935.4 947 aaG/aaA 0 -PLEKHA6 UCSF GRCh37 1 204198137 204198137 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 41 89 0 ENST00000272203.3:c.2679C>T p.Pro893= p.P893= ENST00000272203 NM_014935.4 893 ccC/ccT 0 -PLEKHD1 UCSF GRCh37 14 69995020 69995020 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 9 31 0 ENST00000322564.7:c.1405G>A p.Glu469Lys p.E469K ENST00000322564 NM_001161498.1 469 Gag/Aag 0 -PLEKHG1 UCSF GRCh37 6 151130280 151130280 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 60 144 0 ENST00000358517.2:c.952C>T p.Leu318= p.L318= ENST00000358517 318 Ctg/Ttg 0 -PLEKHG6 UCSF GRCh37 12 6427914 6427914 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 30 88 0 ENST00000011684.7:c.1279G>A p.Asp427Asn p.D427N ENST00000011684 NM_018173.3 427 Gac/Aac 0 -PLEKHM2 UCSF GRCh37 1 16051828 16051828 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 12 6 26 0 ENST00000375799.3:c.729C>T p.Asp243= p.D243= ENST00000375799 NM_015164.2 243 gaC/gaT 0 -PLIN2 UCSF GRCh37 9 19121023 19121023 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 30 114 242 0 ENST00000276914.2:c.450G>A p.Glu150= p.E150= ENST00000276914 NM_001122.3 150 gaG/gaA 0 -PLIN4 UCSF GRCh37 19 4512632 4512632 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 195 145 329 0 ENST00000301286.3:c.1298C>T p.Ala433Val p.A433V ENST00000301286 NM_001080400.1 433 gCc/gTc 0 -PLK3 UCSF GRCh37 1 45270338 45270338 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 93 235 0 ENST00000372201.4:c.1522C>T p.Pro508Ser p.P508S ENST00000372201 NM_004073.2 508 Ccc/Tcc 0 -PLP2 UCSF GRCh37 X 49029528 49029528 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 41 60 0 ENST00000376327.5:c.149C>T p.Ser50Phe p.S50F ENST00000376327 NM_002668.2 50 tCc/tTc 0 -PLS1 UCSF GRCh37 3 142430816 142430816 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 186 155 291 0 ENST00000337777.3:c.1857C>T p.Cys619= p.C619= ENST00000337777 NM_002670.2 619 tgC/tgT 0 -PLSCR3 UCSF GRCh37 17 7296785 7296785 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 157 151 269 0 ENST00000535512.1:c.286+1G>A p.X96_splice ENST00000535512 0 -PLSCR4 UCSF GRCh37 3 145924492 145924492 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 34 62 0 ENST00000354952.2:c.175G>A p.Gly59Arg p.G59R ENST00000354952 NM_020353.2 59 Gga/Aga 0 -PLXDC2 UCSF GRCh37 10 20432236 20432236 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 303 94 230 0 ENST00000377252.4:c.554C>T p.Thr185Ile p.T185I ENST00000377252 NM_032812.7 185 aCt/aTt 0 -PLXNA2 UCSF GRCh37 1 208218062 208218062 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 17 64 0 ENST00000367033.3:c.3665C>T p.Ser1222Leu p.S1222L ENST00000367033 NM_025179.3 1222 tCg/tTg 0 -PLXNA2 UCSF GRCh37 1 208272261 208272261 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 26 58 0 ENST00000367033.3:c.1661C>T p.Ala554Val p.A554V ENST00000367033 NM_025179.3 554 gCc/gTc 0 -PLXNA2 UCSF GRCh37 1 208227865 208227865 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 51 77 0 ENST00000367033.3:c.2757C>T p.Gly919= p.G919= ENST00000367033 NM_025179.3 919 ggC/ggT 0 -PLXNB1 UCSF GRCh37 3 48462134 48462134 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 16 59 0 ENST00000296440.6:c.1968G>A p.Trp656Ter p.W656* ENST00000296440 NM_001130082.1 656 tgG/tgA 0 -PLXMT-ND1 UCSF GRCh37 3 129290040 129290040 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 55 48 126 0 ENST00000324093.4:c.3443A>G p.Asp1148Gly p.D1148G ENST00000324093 NM_015103.2 1148 gAc/gGc 0 -PML UCSF GRCh37 15 74325727 74325727 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 37 75 0 ENST00000268058.3:c.1629C>T p.Asn543= p.N543= ENST00000268058 NM_033238.2 543 aaC/aaT 0 -PMM1 UCSF GRCh37 22 41973821 41973821 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 55 139 0 ENST00000216259.7:c.657G>A p.Glu219= p.E219= ENST00000216259 NM_002676.2 219 gaG/gaA 0 -PNLIPRP3 UCSF GRCh37 10 118220511 118220511 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 125 69 189 0 ENST00000369230.3:c.599C>T p.Thr200Ile p.T200I ENST00000369230 NM_001011709.2 200 aCt/aTt 0 -POC1A UCSF GRCh37 3 52109984 52109984 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 76 171 0 ENST00000296484.2:c.1143G>A p.Glu381= p.E381= ENST00000296484 NM_015426.4 381 gaG/gaA 0 -POGK UCSF GRCh37 1 166810316 166810316 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 59 137 0 ENST00000367875.1:c.123G>A p.Glu41= p.E41= ENST00000367875 41 gaG/gaA 0 -POGZ UCSF GRCh37 1 151396657 151396657 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 108 184 0 ENST00000271715.2:c.1291C>T p.Pro431Ser p.P431S ENST00000271715 NM_015100.3 431 Cct/Tct 0 -POLA1 UCSF GRCh37 X 25014013 25014013 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 75 73 0 ENST00000379059.3:c.4335C>T p.Gly1445= p.G1445= ENST00000379059 NM_016937.3 1445 ggC/ggT 0 -POLD1 UCSF GRCh37 19 50905276 50905276 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 32 85 0 ENST00000440232.2:c.484G>T p.Gly162Cys p.G162C ENST00000440232 NM_002691.3 162 Ggt/Tgt 0 -POLDIP3 UCSF GRCh37 22 42988024 42988024 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 104 224 0 ENST00000252115.5:c.958G>A p.Val320Met p.V320M ENST00000252115 NM_001278657.1 320 Gtg/Atg 0 -POLH UCSF GRCh37 6 43582155 43582155 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 235 152 309 0 ENST00000372236.4:c.2003C>T p.Ser668Phe p.S668F ENST00000372236 NM_006502.2 668 tCt/tTt 0 -POLN UCSF GRCh37 4 2129915 2129915 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 203 141 308 1 ENST00000382865.1:c.1907C>T p.Ser636Phe p.S636F ENST00000382865 NM_181808.2 636 tCt/tTt 0 -POLN UCSF GRCh37 4 2159619 2159619 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 145 117 251 0 ENST00000382865.1:c.1631C>T p.Thr544Ile p.T544I ENST00000382865 NM_181808.2 544 aCc/aTc 0 -POLR1E UCSF GRCh37 9 37503132 37503132 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 65 166 0 ENST00000377792.3:c.1379C>T p.Thr460Ile p.T460I ENST00000377792 460 aCc/aTc 0 -POLR1E UCSF GRCh37 9 37486787 37486787 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 32 104 224 0 ENST00000377792.3:c.350G>A p.Arg117Lys p.R117K ENST00000377792 117 aGg/aAg 0 -POLR3A UCSF GRCh37 10 79745098 79745098 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 91 145 0 ENST00000372371.3:c.3072G>A p.Arg1024= p.R1024= ENST00000372371 NM_007055.3 1024 agG/agA 0 -POM121 UCSF GRCh37 7 72400590 72400590 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 190 141 339 0 ENST00000434423.2:c.1216C>T p.Pro406Ser p.P406S ENST00000434423 406 Cct/Tct 0 -POMZP3 UCSF GRCh37 7 76240803 76240803 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 100 149 0 ENST00000310842.4:c.543G>A p.Trp181Ter p.W181* ENST00000310842 NM_012230.3 181 tgG/tgA 0 -POU2F3 UCSF GRCh37 11 120139950 120139950 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 64 120 0 ENST00000543440.2:c.129G>A p.Arg43= p.R43= ENST00000543440 NM_014352.3 43 agG/agA 0 -POU3F1 UCSF GRCh37 1 38511573 38511573 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 51 44 91 0 ENST00000373012.2:c.843C>T p.Gly281= p.G281= ENST00000373012 NM_002699.3 281 ggC/ggT 0 -PPAPDC3 UCSF GRCh37 9 134165721 134165721 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 49 108 0 ENST00000372264.3:c.337G>A p.Val113Ile p.V113I ENST00000372264 NM_032728.3 113 Gtc/Atc 0 -PPARGC1A UCSF GRCh37 4 23826108 23826108 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 177 151 310 0 ENST00000264867.2:c.781C>T p.Pro261Ser p.P261S ENST00000264867 NM_013261.3 261 Cct/Tct 0 -PPARGC1B UCSF GRCh37 5 149214929 149214929 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 78 163 0 ENST00000309241.5:c.1807+1G>A p.X603_splice ENST00000309241 NM_133263.3 0 -PPEF2 UCSF GRCh37 4 76797592 76797592 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 42 26 79 0 ENST00000286719.7:c.1168G>A p.Val390Met p.V390M ENST00000286719 NM_006239.2 390 Gtg/Atg 0 -PPFIA1 UCSF GRCh37 11 70201767 70201767 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 81 141 0 ENST00000253925.7:c.2338C>T p.Pro780Ser p.P780S ENST00000253925 NM_003626.3 780 Ccc/Tcc 0 -PPIG UCSF GRCh37 2 170493450 170493450 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 94 197 0 ENST00000260970.3:c.1682G>A p.Arg561Lys p.R561K ENST00000260970 NM_004792.2 561 aGa/aAa 0 -PPIP5K1 UCSF GRCh37 15 43827298 43827298 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 137 103 209 0 ENST00000396923.3:c.3876C>T p.Asn1292= p.N1292= ENST00000396923 1292 aaC/aaT 0 -PPL UCSF GRCh37 16 4953973 4953973 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 21 64 0 ENST00000345988.2:c.231C>T p.Asp77= p.D77= ENST00000345988 NM_002705.4 77 gaC/gaT 0 -PPP1R13B UCSF GRCh37 14 104219354 104219354 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 62 141 0 ENST00000202556.9:c.811C>T p.Leu271= p.L271= ENST00000202556 NM_015316.2 271 Ctg/Ttg 0 -PPP1R15A UCSF GRCh37 19 49376632 49376632 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 29 62 0 ENST00000200453.5:c.142G>A p.Glu48Lys p.E48K ENST00000200453 NM_014330.3 48 Gaa/Aaa 0 -PPP1R16A UCSF GRCh37 8 145722709 145722709 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 23 49 0 ENST00000292539.4:c.132C>T p.Ala44= p.A44= ENST00000292539 44 gcC/gcT 0 -PPP1R3D UCSF GRCh37 20 58514666 58514666 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 27 6 20 0 ENST00000370996.3:c.321C>T p.Asp107= p.D107= ENST00000370996 NM_006242.3 107 gaC/gaT 0 -PPP2R5C UCSF GRCh37 14 102368190 102368190 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 57 153 0 ENST00000334743.5:c.987G>A p.Arg329= p.R329= ENST00000334743 NM_002719.3 329 cgG/cgA 0 -PPP3CB UCSF GRCh37 10 75230479 75230479 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 64 136 0 ENST00000360663.5:c.948G>A p.Ser316= p.S316= ENST00000360663 316 tcG/tcA 0 -PPP3CC UCSF GRCh37 8 22368658 22368658 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 135 96 200 0 ENST00000240139.5:c.544C>T p.Pro182Ser p.P182S ENST00000240139 NM_005605.4 182 Cct/Tct 0 -PPP6R2 UCSF GRCh37 22 50869666 50869666 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 58 188 0 ENST00000216061.5:c.1190C>T p.Ala397Val p.A397V ENST00000216061 397 gCt/gTt 0 -PPT1 UCSF GRCh37 1 40544268 40544268 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 66 177 0 ENST00000433473.3:c.690C>T p.Phe230= p.F230= ENST00000433473 NM_000310.3 230 ttC/ttT 0 -PRAMEF1 UCSF GRCh37 1 12854201 12854201 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 351 176 605 0 ENST00000332296.7:c.425G>A p.Gly142Glu p.G142E ENST00000332296 NM_023013.2 142 gGa/gAa 0 -PRAMEF12 UCSF GRCh37 1 12836049 12836049 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 156 114 239 0 ENST00000357726.4:c.651C>T p.Ser217= p.S217= ENST00000357726 NM_001080830.1 217 tcC/tcT 0 -PRAMEF4 UCSF GRCh37 1 12941966 12941966 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 105 301 0 ENST00000235349.5:c.584G>A p.Arg195His p.R195H ENST00000235349 NM_001009611.2 195 cGc/cAc 0 -PRAMEF6 UCSF GRCh37 1 13001251 13001251 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 420 108 732 0 ENST00000376189.1:c.432G>A p.Gln144= p.Q144= ENST00000376189 NM_001010889.2 144 caG/caA 0 -PRAMEF7 UCSF GRCh37 1 12979697 12979697 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 45 235 0 ENST00000330881.5:c.889G>A p.Val297Ile p.V297I ENST00000330881 NM_001012277.1 297 Gtc/Atc 0 -PRB4 UCSF GRCh37 12 11461546 11461546 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 214 69 289 0 ENST00000279575.1:c.371C>T p.Pro124Leu p.P124L ENST00000279575 NM_001261399.1 124 cCc/cTc 0 -PRDM10 UCSF GRCh37 11 129814713 129814713 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 114 85 190 0 ENST00000358825.5:c.715C>T p.Pro239Ser p.P239S ENST00000358825 NM_020228.2 239 Cct/Tct 0 -PRDM15 UCSF GRCh37 21 43221771 43221771 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 38 104 0 ENST00000269844.3:c.4153C>T p.Leu1385Phe p.L1385F ENST00000269844 NM_022115.3 1385 Ctc/Ttc 0 -PRDM15 UCSF GRCh37 21 43258105 43258105 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 111 76 202 0 ENST00000269844.3:c.2037G>A p.Arg679= p.R679= ENST00000269844 NM_022115.3 679 cgG/cgA 0 -PRDM16 UCSF GRCh37 1 3334421 3334421 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 97 177 0 ENST00000270722.5:c.2721G>A p.Lys907= p.K907= ENST00000270722 907 aaG/aaA 0 -PRDM2 UCSF GRCh37 1 14106287 14106287 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 70 148 0 ENST00000235372.7:c.1997G>A p.Ser666Asn p.S666N ENST00000235372 NM_012231.4 666 aGt/aAt 0 -PRDM2 UCSF GRCh37 1 14106776 14106776 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 80 180 0 ENST00000235372.7:c.2486G>A p.Gly829Asp p.G829D ENST00000235372 NM_012231.4 829 gGt/gAt 0 -PRDM4 UCSF GRCh37 12 108147759 108147759 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 47 98 0 ENST00000228437.5:c.273C>T p.Thr91= p.T91= ENST00000228437 NM_012406.3 91 acC/acT 0 -PRDX2 UCSF GRCh37 19 12911811 12911811 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 33 72 0 ENST00000301522.2:c.176G>A p.Ser59Asn p.S59N ENST00000301522 NM_005809.5 59 aGc/aAc 0 -PREX2 UCSF GRCh37 8 69017553 69017553 + intron_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 61 151 0 ENST00000288368.4:c.2716-2791C>T *906* ENST00000288368 NM_024870.2 0 -PRG4 UCSF GRCh37 1 186276020 186276020 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 63 63 126 0 ENST00000445192.2:c.1169C>T p.Pro390Leu p.P390L ENST00000445192 NM_005807.3 390 cCc/cTc 0 -PRIC285 UCSF GRCh37 20 62191299 62191299 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 25 56 0 ENST00000467148.1:c.7807G>A p.Glu2603Lys p.E2603K ENST00000467148 NM_001037335.2 2603 Gag/Aag 0 -PRIM2 UCSF GRCh37 6 57398214 57398214 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 428 114 714 1 ENST00000607273.1:c.917G>A p.Arg306Gln p.R306Q ENST00000607273 NM_000947.3 306 cGa/cAa 0 -PRKACG UCSF GRCh37 9 71628387 71628387 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 43 110 0 ENST00000377276.2:c.622C>T p.Pro208Ser p.P208S ENST00000377276 NM_002732.3 208 Ccc/Tcc 0 -PRKAG2 UCSF GRCh37 7 151573591 151573591 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 28 49 1 ENST00000287878.4:c.114+1G>A p.X38_splice ENST00000287878 NM_016203.3 0 -PRKCH UCSF GRCh37 14 61857951 61857951 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0014 P18_Rec Untested WXS Illumina HiSeq 75 67 130 0 ENST00000332981.5:c.372C>T p.Leu124= p.L124= ENST00000332981 NM_006255.3 124 ctC/ctT 0 -PRKCSH UCSF GRCh37 19 11552127 11552127 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 67 217 0 ENST00000589838.1:c.423G>A p.Lys141= p.K141= ENST00000589838 141 aaG/aaA 0 -PRKD1 UCSF GRCh37 14 30100122 30100122 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 90 179 0 ENST00000331968.5:c.1498G>A p.Val500Met p.V500M ENST00000331968 NM_002742.2 500 Gtg/Atg 0 -PRKD2 UCSF GRCh37 19 47195006 47195006 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 72 150 0 ENST00000291281.4:c.1688G>A p.Gly563Glu p.G563E ENST00000291281 563 gGa/gAa 0 -PRKD2 UCSF GRCh37 19 47204305 47204305 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 55 83 0 ENST00000291281.4:c.954C>T p.Ala318= p.A318= ENST00000291281 318 gcC/gcT 0 -PRMT10 UCSF GRCh37 4 148604985 148604985 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 41 108 0 ENST00000322396.6:c.154C>T p.Leu52Phe p.L52F ENST00000322396 NM_138364.2 52 Ctc/Ttc 0 -PRMT6 UCSF GRCh37 1 107600343 107600343 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 29 83 1 ENST00000370078.1:c.1006G>A p.Asp336Asn p.D336N ENST00000370078 336 Gac/Aac 0 -PRMT7 UCSF GRCh37 16 68380067 68380067 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 71 159 0 ENST00000339507.5:c.1075G>A p.Val359Ile p.V359I ENST00000339507 359 Gtc/Atc 0 -PROKR2 UCSF GRCh37 20 5294982 5294982 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 61 130 0 ENST00000217270.3:c.34C>T p.Pro12Ser p.P12S ENST00000217270 NM_144773.2 12 Ccc/Tcc 0 -PROL1 UCSF GRCh37 4 71275570 71275570 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 71 194 0 ENST00000399575.2:c.525C>T p.Ile175= p.I175= ENST00000399575 NM_021225.4 175 atC/atT 0 -PROM2 UCSF GRCh37 2 95941741 95941741 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 16 29 0 ENST00000317620.9:c.358G>A p.Val120Met p.V120M ENST00000317620 NM_001165978.1 120 Gtg/Atg 0 -PRPF19 UCSF GRCh37 11 60665699 60665699 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 60 137 0 ENST00000227524.4:c.1185C>T p.Ile395= p.I395= ENST00000227524 NM_014502.4 395 atC/atT 0 -PRPF31 UCSF GRCh37 19 54634839 54634839 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 48 99 0 ENST00000321030.4:c.1476G>A p.Glu492= p.E492= ENST00000321030 NM_015629.3 492 gaG/gaA 0 -PRPH2 UCSF GRCh37 6 42689649 42689649 + missense_variant Missense_Mutation SNP G G A snp132_rs61755783 P18_Rec Untested WXS Illumina HiSeq 83 89 162 0 ENST00000230381.5:c.424C>T p.Arg142Trp p.R142W ENST00000230381 NM_000322.4 142 Cgg/Tgg 0 -PRR13 UCSF GRCh37 12 53837352 53837352 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 7 25 90 0 ENST00000429243.2:c.197C>T p.Pro66Leu p.P66L ENST00000429243 NM_018457.3 66 cCa/cTa 0 -PRR14 UCSF GRCh37 16 30664424 30664424 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 42 85 0 ENST00000300835.4:c.504G>A p.Glu168= p.E168= ENST00000300835 NM_024031.2 168 gaG/gaA 0 -PRR14L UCSF GRCh37 22 32111480 32111480 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 129 308 0 ENST00000327423.6:c.2345C>T p.Ser782Phe p.S782F ENST00000327423 NM_173566.2 782 tCt/tTt 0 -PRR3 UCSF GRCh37 6 30529888 30529888 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 73 205 0 ENST00000376560.3:c.447C>T p.Pro149= p.P149= ENST00000376560 NM_025263.3 149 ccC/ccT 0 -PRRC2A UCSF GRCh37 6 31599022 31599022 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 102 73 164 0 ENST00000376007.4:c.2572G>A p.Glu858Lys p.E858K ENST00000376007 NM_080686.2 858 Gaa/Aaa 0 -PRRC2B UCSF GRCh37 9 134350096 134350096 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 80 62 141 0 ENST00000357304.4:c.2580C>T p.Val860= p.V860= ENST00000357304 NM_013318.3 860 gtC/gtT 0 -PRRC2B UCSF GRCh37 9 134362554 134362554 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 45 95 0 ENST00000357304.4:c.5857G>A p.Ala1953Thr p.A1953T ENST00000357304 NM_013318.3 1953 Gcc/Acc 0 -PRRC2C UCSF GRCh37 1 171519286 171519286 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 147 114 237 0 ENST00000338920.4:c.5028G>A p.Leu1676= p.L1676= ENST00000338920 NM_015172.3 1676 ttG/ttA 0 -PRRT2 UCSF GRCh37 16 29824379 29824379 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 44 91 0 ENST00000358758.7:c.4G>A p.Ala2Thr p.A2T ENST00000358758 NM_001256442.1 2 Gca/Aca 0 -PRSS1 UCSF GRCh37 7 142460858 142460858 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 173 107 209 0 ENST00000311737.7:c.731C>T p.Ala244Val p.A244V ENST00000311737 NM_002769.4 244 gCt/gTt 0 -PRSS21 UCSF GRCh37 16 2871579 2871579 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 50 106 0 ENST00000005995.3:c.918G>A p.Trp306Ter p.W306* ENST00000005995 306 tgG/tgA 0 -PRSS27 UCSF GRCh37 16 2763685 2763685 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 27 92 0 ENST00000302641.3:c.523C>T p.Pro175Ser p.P175S ENST00000302641 NM_031948.3 175 Ccg/Tcg 0 -PRSS36 UCSF GRCh37 16 31160803 31160803 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 34 105 1 ENST00000268281.4:c.90G>A p.Gln30= p.Q30= ENST00000268281 NM_173502.4 30 caG/caA 0 -PRSS48 UCSF GRCh37 4 152203454 152203454 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 180 327 0 ENST00000455694.2:c.370G>A p.Val124Ile p.V124I ENST00000455694 NM_183375.2 124 Gtc/Atc 0 -PSAP UCSF GRCh37 10 73594165 73594165 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 42 69 0 ENST00000394936.3:c.138G>A p.Lys46= p.K46= ENST00000394936 46 aaG/aaA 0 -PSAP UCSF GRCh37 10 73579249 73579249 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 48 143 0 ENST00000394936.3:c.1323C>T p.Ser441= p.S441= ENST00000394936 441 agC/agT 0 -PSD2 UCSF GRCh37 5 139219697 139219697 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 54 122 0 ENST00000274710.3:c.2054G>A p.Gly685Asp p.G685D ENST00000274710 NM_032289.2 685 gGc/gAc 0 -PSD3 UCSF GRCh37 8 18413857 18413857 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 113 242 0 ENST00000440756.2:c.2796G>A p.Glu932= p.E932= ENST00000440756 932 gaG/gaA 0 -PSD4 UCSF GRCh37 2 113953307 113953307 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 59 160 0 ENST00000245796.6:c.2185C>T p.Leu729Phe p.L729F ENST00000245796 NM_012455.2 729 Ctc/Ttc 0 -PSEN1 UCSF GRCh37 14 73683941 73683941 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 138 95 169 0 ENST00000324501.5:c.1237G>A p.Ala413Thr p.A413T ENST00000324501 NM_000021.3 413 Gcc/Acc 0 -PSMB1 UCSF GRCh37 6 170858151 170858151 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 61 108 0 ENST00000262193.6:c.164C>T p.Thr55Ile p.T55I ENST00000262193 NM_002793.3 55 aCt/aTt 0 -PSMB8 UCSF GRCh37 6 32809339 32809339 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 144 101 213 0 ENST00000374882.3:c.711C>T p.His237= p.H237= ENST00000374882 NM_148919.3 237 caC/caT 0 -PSMC1 UCSF GRCh37 14 90725515 90725515 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 43 118 0 ENST00000261303.8:c.15G>A p.Gln5= p.Q5= ENST00000261303 NM_002802.2 5 caG/caA 0 -PTBP1 UCSF GRCh37 19 806408 806408 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 21 19 0 ENST00000349038.4:c.893G>A p.Gly298Asp p.G298D ENST00000349038 NM_031991.3 298 gGc/gAc 0 -PTCHD1 UCSF GRCh37 X 23410906 23410906 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 143 151 1 ENST00000379361.4:c.1271G>A p.Ser424Asn p.S424N ENST00000379361 NM_173495.2 424 aGc/aAc 0 -PTCHD2 UCSF GRCh37 1 11579791 11579791 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 67 139 0 ENST00000294484.6:c.2054G>A p.Gly685Glu p.G685E ENST00000294484 NM_020780.1 685 gGa/gAa 0 -PTCRA UCSF GRCh37 6 42890938 42890938 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 70 155 0 ENST00000304672.1:c.232C>T p.Pro78Ser p.P78S ENST00000304672 NM_001243168.1 78 Cct/Tct 0 -PTDSS2 UCSF GRCh37 11 489641 489641 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 5 9 26 0 ENST00000308020.5:c.1023C>T p.Pro341= p.P341= ENST00000308020 NM_030783.1 341 ccC/ccT 0 -PTGS2 UCSF GRCh37 1 186647536 186647536 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 42 145 0 ENST00000367468.5:c.314C>T p.Ser105Phe p.S105F ENST00000367468 NM_000963.2 105 tCc/tTc 0 -PTPN12 UCSF GRCh37 7 77247874 77247874 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 129 106 226 0 ENST00000248594.6:c.1017G>A p.Arg339= p.R339= ENST00000248594 NM_002835.3 339 agG/agA 0 -PTPN13 UCSF GRCh37 4 87706518 87706518 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 77 57 115 0 ENST00000411767.2:c.6253C>T p.Pro2085Ser p.P2085S ENST00000411767 2085 Cca/Tca 0 -PTPN13 UCSF GRCh37 4 87732259 87732259 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 76 53 115 0 ENST00000411767.2:c.7360G>A p.Glu2454Lys p.E2454K ENST00000411767 2454 Gag/Aag 0 -PTPN14 UCSF GRCh37 1 214557113 214557113 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 42 39 94 0 ENST00000366956.5:c.2085G>A p.Lys695= p.K695= ENST00000366956 NM_005401.4 695 aaG/aaA 0 -PTPN23 UCSF GRCh37 3 47449443 47449443 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 21 19 47 0 ENST00000265562.4:c.1182G>A p.Leu394= p.L394= ENST00000265562 NM_015466.2 394 ctG/ctA 0 -PTPRA UCSF GRCh37 20 2968684 2968684 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 147 121 265 0 ENST00000380393.3:c.534G>A p.Lys178= p.K178= ENST00000380393 NM_002836.3 178 aaG/aaA 0 -PTPRD UCSF GRCh37 9 8518354 8518354 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 97 147 0 ENST00000356435.5:c.1037G>A p.Gly346Glu p.G346E ENST00000356435 346 gGg/gAg 0 -PTPRK UCSF GRCh37 6 128302298 128302298 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 44 104 0 ENST00000368215.3:c.3671G>A p.Gly1224Glu p.G1224E ENST00000368215 1224 gGg/gAg 0 -PTPRM UCSF GRCh37 18 7955142 7955142 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 80 45 149 0 ENST00000332175.8:c.862C>T p.Pro288Ser p.P288S ENST00000332175 NM_002845.3 288 Cct/Tct 0 -PTPRN UCSF GRCh37 2 220155002 220155002 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 23 55 0 ENST00000295718.2:c.2886C>T p.Ala962= p.A962= ENST00000295718 NM_002846.3 962 gcC/gcT 0 -PTPRT UCSF GRCh37 20 40790034 40790034 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 61 145 0 ENST00000373187.1:c.2640G>A p.Gln880= p.Q880= ENST00000373187 880 caG/caA 0 -PTPRZ1 UCSF GRCh37 7 121653306 121653306 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 128 105 234 0 ENST00000393386.2:c.4206G>A p.Leu1402= p.L1402= ENST00000393386 NM_001206838.1 1402 ctG/ctA 0 -PUF60 UCSF GRCh37 8 144898928 144898928 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 104 180 0 ENST00000526683.1:c.1442G>A p.Gly481Glu p.G481E ENST00000526683 NM_001271098.1 481 gGg/gAg 0 -PVRL3 UCSF GRCh37 3 110830999 110830999 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 75 191 0 ENST00000485303.1:c.283C>T p.His95Tyr p.H95Y ENST00000485303 NM_001243286.1 95 Cat/Tat 0 -PWP2 UCSF GRCh37 21 45542135 45542135 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 80 160 0 ENST00000291576.7:c.1714C>T p.Pro572Ser p.P572S ENST00000291576 NM_005049.2 572 Cct/Tct 0 -PWP2 UCSF GRCh37 21 45535238 45535238 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 127 86 189 0 ENST00000291576.7:c.564G>A p.Lys188= p.K188= ENST00000291576 NM_005049.2 188 aaG/aaA 0 -PXDN UCSF GRCh37 2 1670193 1670193 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 6 25 55 0 ENST00000252804.4:c.1084G>A p.Glu362Lys p.E362K ENST00000252804 NM_012293.1 362 Gag/Aag 0 -PYGM UCSF GRCh37 11 64514753 64514753 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 38 126 0 ENST00000164139.3:c.2255C>T p.Ser752Phe p.S752F ENST00000164139 NM_005609.2 752 tCc/tTc 0 -PYHIN1 UCSF GRCh37 1 158906715 158906715 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 65 133 0 ENST00000368140.1:c.15C>T p.Tyr5= p.Y5= ENST00000368140 NM_152501.4 5 taC/taT 0 -PYHIN1 UCSF GRCh37 1 158946491 158946491 + splice_region_variant,3_prime_UTR_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 140 80 198 0 ENST00000368140.1:c.*6G>A p.X2_splice ENST00000368140 NM_152501.4 0 -PYROXD2 UCSF GRCh37 10 100143560 100143560 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 131 93 201 0 ENST00000370575.4:c.1741A>G p.Met581Val p.M581V ENST00000370575 NM_032709.2 581 Atg/Gtg 0 -RAB11FIP5 UCSF GRCh37 2 73316440 73316440 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 132 97 184 0 ENST00000258098.6:c.435G>A p.Trp145Ter p.W145* ENST00000258098 NM_015470.2 145 tgG/tgA 0 -RAB18 UCSF GRCh37 10 27821451 27821451 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 315 128 219 0 ENST00000356940.6:c.202G>A p.Glu68Lys p.E68K ENST00000356940 NM_001256410.1 68 Gag/Aag 0 -RAB19 UCSF GRCh37 7 140125911 140125911 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 52 132 0 ENST00000356407.3:c.615G>A p.Met205Ile p.M205I ENST00000356407 205 atG/atA 0 -RAB20 UCSF GRCh37 13 111176438 111176438 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 52 128 0 ENST00000267328.3:c.279C>T p.Asp93= p.D93= ENST00000267328 NM_017817.1 93 gaC/gaT 0 -RAB26 UCSF GRCh37 16 2198927 2198927 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 7 15 11 0 ENST00000210187.6:c.143C>T p.Pro48Leu p.P48L ENST00000210187 NM_014353.4 48 cCc/cTc 0 -RAB3D UCSF GRCh37 19 11446138 11446138 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 35 62 0 ENST00000222120.3:c.457C>T p.Leu153Phe p.L153F ENST00000222120 NM_004283.3 153 Ctc/Ttc 0 -RAB40AL UCSF GRCh37 X 102192759 102192759 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 49 77 0 ENST00000218249.5:c.513C>T p.Ala171= p.A171= ENST00000218249 NM_001031834.1 171 gcC/gcT 0 -RAD1 UCSF GRCh37 5 34908987 34908987 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 152 113 245 0 ENST00000341754.4:c.732G>A p.Arg244= p.R244= ENST00000341754 244 cgG/cgA 0 -RAD18 UCSF GRCh37 3 8940731 8940731 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 193 56 105 0 ENST00000264926.2:c.1169G>A p.Gly390Glu p.G390E ENST00000264926 NM_020165.3 390 gGa/gAa 0 -RAD9B UCSF GRCh37 12 110960024 110960024 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 122 98 217 0 ENST00000392672.4:c.933C>T p.Gly311= p.G311= ENST00000392672 NM_152442.3 311 ggC/ggT 0 -RAET1E UCSF GRCh37 6 150210512 150210512 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 55 128 0 ENST00000357183.4:c.594G>A p.Gly198= p.G198= ENST00000357183 NM_139165.2 198 ggG/ggA 0 -RAI1 UCSF GRCh37 17 17697865 17697865 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 59 52 94 0 ENST00000353383.1:c.1603G>A p.Ala535Thr p.A535T ENST00000353383 NM_030665.3 535 Gcc/Acc 0 -RALA UCSF GRCh37 7 39726287 39726287 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 64 158 0 ENST00000005257.2:c.21G>A p.Lys7= p.K7= ENST00000005257 NM_005402.3 7 aaG/aaA 0 -RANBP17 UCSF GRCh37 5 170640635 170640635 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 132 76 151 0 ENST00000523189.1:c.2232G>A p.Met744Ile p.M744I ENST00000523189 NM_022897.3 744 atG/atA 0 -RANBP2 UCSF GRCh37 2 109398766 109398766 + synonymous_variant Silent SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 130 115 253 0 ENST00000283195.6:c.8943G>A p.Val2981= p.V2981= ENST00000283195 NM_006267.4 2981 gtG/gtA 0 -RANBP2 UCSF GRCh37 2 109392223 109392223 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 121 84 221 0 ENST00000283195.6:c.8328C>T p.Asp2776= p.D2776= ENST00000283195 NM_006267.4 2776 gaC/gaT 0 -RANBP2 UCSF GRCh37 2 109382380 109382380 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 132 90 216 0 ENST00000283195.6:c.5385G>A p.Glu1795= p.E1795= ENST00000283195 NM_006267.4 1795 gaG/gaA 0 -RAP1GAP2 UCSF GRCh37 17 2901517 2901517 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 193 123 291 0 ENST00000254695.8:c.1047C>T p.Leu349= p.L349= ENST00000254695 NM_015085.4 349 ctC/ctT 0 -RAP1GDS1 UCSF GRCh37 4 99264359 99264359 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Rec Untested WXS Illumina HiSeq 113 106 177 1 ENST00000408927.3:c.182A>C p.Gln61Pro p.Q61P ENST00000408927 NM_021159.4 61 cAg/cCg 0 -RAPGEF1 UCSF GRCh37 9 134463203 134463203 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 52 104 0 ENST00000372189.3:c.2595G>A p.Leu865= p.L865= ENST00000372189 NM_005312.2 865 ttG/ttA 0 -RAPGEF2 UCSF GRCh37 4 160277170 160277170 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 20 62 0 ENST00000264431.4:c.4334C>T p.Ala1445Val p.A1445V ENST00000264431 NM_014247.2 1445 gCt/gTt 0 -RAPH1 UCSF GRCh37 2 204304764 204304764 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 56 118 0 ENST00000319170.5:c.3149C>T p.Ala1050Val p.A1050V ENST00000319170 NM_213589.1 1050 gCc/gTc 0 -RAPH1 UCSF GRCh37 2 204306084 204306084 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 17 23 0 ENST00000319170.5:c.1829C>T p.Ser610Phe p.S610F ENST00000319170 NM_213589.1 610 tCc/tTc 0 -RASAL1 UCSF GRCh37 12 113573235 113573235 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 14 16 16 0 ENST00000261729.5:c.33G>A p.Val11= p.V11= ENST00000261729 11 gtG/gtA 0 -RAVER2 UCSF GRCh37 1 65278515 65278515 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 60 117 0 ENST00000294428.3:c.1775C>T p.Pro592Leu p.P592L ENST00000294428 592 cCc/cTc 0 -RBCK1 UCSF GRCh37 20 390563 390563 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 82 208 0 ENST00000356286.5:c.61G>A p.Gly21Ser p.G21S ENST00000356286 NM_031229.2 21 Ggc/Agc 0 -RBFOX1 UCSF GRCh37 16 7568257 7568257 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 208 92 195 0 ENST00000547338.1:c.136C>T p.Pro46Ser p.P46S ENST00000547338 NM_001142334.1 46 Ccc/Tcc 0 -RBM12 UCSF GRCh37 20 34241744 34241744 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 200 141 280 0 ENST00000359646.1:c.1501C>T p.Gln501Ter p.Q501* ENST00000359646 501 Caa/Taa 0 -RBM14 UCSF GRCh37 11 66392770 66392770 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 126 103 192 0 ENST00000310137.4:c.1423G>A p.Gly475Arg p.G475R ENST00000310137 NM_006328.3 475 Ggg/Agg 0 -RBM15 UCSF GRCh37 1 110883854 110883854 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 38 67 0 ENST00000369784.3:c.1827G>A p.Glu609= p.E609= ENST00000369784 NM_022768.4 609 gaG/gaA 0 -RBM19 UCSF GRCh37 12 114377894 114377894 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 56 153 0 ENST00000261741.5:c.1809G>A p.Leu603= p.L603= ENST00000261741 NM_016196.3 603 ctG/ctA 0 -RBM26 UCSF GRCh37 13 79932554 79932554 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 36 115 0 ENST00000438737.2:c.1544G>A p.Arg515Lys p.R515K ENST00000438737 NM_001286631.1 515 aGa/aAa 0 -RBMS2 UCSF GRCh37 12 56975264 56975264 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 25 54 113 0 ENST00000262031.5:c.704G>A p.Gly235Glu p.G235E ENST00000262031 NM_002898.3 235 gGa/gAa 0 -RBP3 UCSF GRCh37 10 48388215 48388215 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 26 71 0 ENST00000224600.4:c.2663C>T p.Pro888Leu p.P888L ENST00000224600 NM_002900.2 888 cCc/cTc 0 -RBPJL UCSF GRCh37 20 43942178 43942178 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 22 44 0 ENST00000343694.3:c.690C>T p.Tyr230= p.Y230= ENST00000343694 NM_001281449.1 230 taC/taT 0 -RCOR1 UCSF GRCh37 14 103188554 103188554 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 78 186 0 ENST00000570597.1:c.1211C>T p.Ala404Val p.A404V ENST00000570597 404 gCa/gTa 0 -RDX UCSF GRCh37 11 110124675 110124675 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 65 142 0 ENST00000343115.4:c.955G>A p.Glu319Lys p.E319K ENST00000343115 NM_001260494.1 319 Gaa/Aaa 0 -RECK UCSF GRCh37 9 36112353 36112353 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 61 112 0 ENST00000377966.3:c.1940G>A p.Gly647Glu p.G647E ENST00000377966 NM_021111.2 647 gGg/gAg 0 -RECK UCSF GRCh37 9 36118754 36118754 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 42 84 0 ENST00000377966.3:c.2254C>T p.Pro752Ser p.P752S ENST00000377966 NM_021111.2 752 Ccc/Tcc 0 -REEP1 UCSF GRCh37 2 86444230 86444230 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 44 95 0 ENST00000165698.5:c.599C>T p.Thr200Ile p.T200I ENST00000165698 NM_022912.2 200 aCc/aTc 0 -REEP5 UCSF GRCh37 5 112257851 112257851 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 13 38 0 ENST00000379638.4:c.37C>T p.Leu13= p.L13= ENST00000379638 NM_005669.4 13 Ctg/Ttg 0 -RELB UCSF GRCh37 19 45537734 45537734 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 18 63 0 ENST00000221452.8:c.1302G>A p.Arg434= p.R434= ENST00000221452 NM_006509.3 434 cgG/cgA 0 -REM2 UCSF GRCh37 14 23354170 23354170 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 51 87 0 ENST00000267396.4:c.391G>A p.Ala131Thr p.A131T ENST00000267396 NM_173527.2 131 Gca/Aca 0 -REV3L UCSF GRCh37 6 111694354 111694354 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 154 121 213 0 ENST00000358835.3:c.5204G>A p.Ser1735Asn p.S1735N ENST00000358835 1735 aGc/aAc 0 -REV3L UCSF GRCh37 6 111678216 111678216 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 83 208 0 ENST00000358835.3:c.7184+1G>A p.X2395_splice ENST00000358835 0 -RFPL2 UCSF GRCh37 22 32588955 32588955 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 99 212 0 ENST00000248983.4:c.220A>T p.Ile74Phe p.I74F ENST00000248983 NM_001159545.1 74 Atc/Ttc 0 -RGNEF UCSF GRCh37 5 73072480 73072480 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 233 141 367 0 ENST00000426542.2:c.799C>T p.Leu267Phe p.L267F ENST00000426542 267 Ctc/Ttc 0 -RGS10 UCSF GRCh37 10 121285617 121285617 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P18_Rec Untested WXS Illumina HiSeq 30 0 ENST00000369101.3:c.158del p.Lys53ArgfsTer12 p.K53Rfs*12 ENST00000369101 53 aAg/ag 0 -RGS20 UCSF GRCh37 8 54791981 54791981 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 38 94 0 ENST00000297313.3:c.329C>T p.Ala110Val p.A110V ENST00000297313 NM_170587.2 110 gCc/gTc 0 -RGS22 UCSF GRCh37 8 101076176 101076176 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 153 105 244 0 ENST00000360863.6:c.820G>A p.Glu274Lys p.E274K ENST00000360863 NM_015668.3 274 Gaa/Aaa 0 -RHBDF2 UCSF GRCh37 17 74469187 74469187 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 35 61 0 ENST00000313080.4:c.1897G>A p.Val633Met p.V633M ENST00000313080 NM_024599.5 633 Gtg/Atg 0 -RHCE UCSF GRCh37 1 25715505 25715505 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 51 140 0 ENST00000294413.7:c.901G>A p.Ala301Thr p.A301T ENST00000294413 NM_020485.4 301 Gct/Act 0 -RHOBTB1 UCSF GRCh37 10 62670645 62670645 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 43 112 0 ENST00000337910.5:c.296G>A p.Arg99Lys p.R99K ENST00000337910 NM_001242359.1 99 aGg/aAg 0 -RHOBTB2 UCSF GRCh37 8 22868171 22868171 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 101 198 0 ENST00000251822.6:c.1741C>T p.Leu581Phe p.L581F ENST00000251822 NM_015178.2 581 Ctc/Ttc 0 -RHPN1 UCSF GRCh37 8 144462236 144462236 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 15 28 0 ENST00000289013.6:c.1107G>A p.Ala369= p.A369= ENST00000289013 NM_052924.2 369 gcG/gcA 0 -RIMS1 UCSF GRCh37 6 72892596 72892596 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 11 14 0 ENST00000521978.1:c.1422C>T p.Ser474= p.S474= ENST00000521978 NM_014989.5 474 agC/agT 0 -RIN2 UCSF GRCh37 20 19970700 19970700 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 46 112 0 ENST00000255006.6:c.1960G>A p.Gly654Arg p.G654R ENST00000255006 NM_018993.3 654 Ggg/Agg 0 -RIN2 UCSF GRCh37 20 19945668 19945668 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 173 130 267 0 ENST00000255006.6:c.683G>A p.Arg228Lys p.R228K ENST00000255006 NM_018993.3 228 aGg/aAg 0 -RING1 UCSF GRCh37 6 33179242 33179242 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 8 24 0 ENST00000374656.4:c.763C>T p.Pro255Ser p.P255S ENST00000374656 NM_002931.3 255 Ccc/Tcc 0 -RIPK4 UCSF GRCh37 21 43161833 43161833 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 64 47 118 0 ENST00000352483.2:c.1664C>T p.Ala555Val p.A555V ENST00000352483 555 gCc/gTc 0 -RIPK4 UCSF GRCh37 21 43171318 43171318 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 68 129 0 ENST00000352483.2:c.562C>T p.Leu188Phe p.L188F ENST00000352483 188 Ctc/Ttc 0 -RLF UCSF GRCh37 1 40688383 40688383 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 69 180 0 ENST00000372771.4:c.947+1G>A p.X316_splice ENST00000372771 NM_012421.3 0 -RLN3 UCSF GRCh37 19 14141712 14141712 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 43 157 0 ENST00000431365.2:c.381C>T p.Ser127= p.S127= ENST00000431365 NM_080864.2 127 agC/agT 0 -RLTPR UCSF GRCh37 16 67690536 67690536 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 29 64 0 ENST00000334583.6:c.4024C>T p.Pro1342Ser p.P1342S ENST00000334583 NM_001013838.1 1342 Ccc/Tcc 0 -RNF123 UCSF GRCh37 3 49750002 49750002 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 56 121 0 ENST00000327697.6:c.2587C>T p.Pro863Ser p.P863S ENST00000327697 NM_022064.3 863 Ccc/Tcc 0 -RNF168 UCSF GRCh37 3 196229968 196229968 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 57 129 0 ENST00000318037.3:c.77C>T p.Pro26Leu p.P26L ENST00000318037 NM_152617.3 26 cCc/cTc 0 -RNF208 UCSF GRCh37 9 140114906 140114906 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 8 12 0 ENST00000391553.1:c.759C>T p.Asn253= p.N253= ENST00000391553 NM_031297.4 253 aaC/aaT 0 -RNF25 UCSF GRCh37 2 219528704 219528704 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 72 150 0 ENST00000295704.2:c.1356C>T p.Gly452= p.G452= ENST00000295704 NM_022453.2 452 ggC/ggT 0 -RNF32 UCSF GRCh37 7 156437244 156437244 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 63 101 0 ENST00000317955.5:c.67G>A p.Asp23Asn p.D23N ENST00000317955 NM_030936.3 23 Gat/Aat 0 -RP1L1 UCSF GRCh37 8 10468205 10468205 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 69 174 0 ENST00000382483.3:c.3403C>T p.Pro1135Ser p.P1135S ENST00000382483 NM_178857.5 1135 Cct/Tct 0 -RPL21 UCSF GRCh37 13 27830577 27830577 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 51 117 0 ENST00000272274.4:c.398C>T p.Ala133Val p.A133V ENST00000272274 133 gCt/gTt 0 -RPL22L1 UCSF GRCh37 3 170584270 170584270 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 61 141 0 ENST00000295830.8:c.268C>T p.Leu90Phe p.L90F ENST00000295830 NM_001099645.1 90 Ctt/Ttt 0 -RPL5 UCSF GRCh37 1 93300406 93300406 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 200 133 278 0 ENST00000370321.3:c.260G>A p.Gly87Asp p.G87D ENST00000370321 NM_000969.3 87 gGt/gAt 0 -RPL5 UCSF GRCh37 1 93301773 93301773 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 160 99 254 0 ENST00000370321.3:c.351G>A p.Lys117= p.K117= ENST00000370321 NM_000969.3 117 aaG/aaA 0 -RPL8 UCSF GRCh37 8 146017481 146017481 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 24 11 37 0 ENST00000262584.3:c.34G>A p.Ala12Thr p.A12T ENST00000262584 NM_000973.3 12 Gcc/Acc 0 -RPLP0 UCSF GRCh37 12 120637204 120637204 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 62 142 0 ENST00000228306.4:c.139C>T p.Leu47Phe p.L47F ENST00000228306 NM_053275.3 47 Ctt/Ttt 0 -RPP38 UCSF GRCh37 10 15145394 15145394 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 238 92 190 0 ENST00000378197.4:c.81C>T p.Asn27= p.N27= ENST00000378197 NM_183005.4 27 aaC/aaT 0 -RPS10 UCSF GRCh37 6 34389575 34389575 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 143 125 213 0 ENST00000326199.8:c.332G>A p.Gly111Asp p.G111D ENST00000326199 NM_001014.4 111 gGt/gAt 0 -RPS6KA4 UCSF GRCh37 11 64129475 64129475 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 34 91 0 ENST00000334205.4:c.906+1G>A p.X302_splice ENST00000334205 NM_003942.2 0 -RRP15 UCSF GRCh37 1 218480844 218480844 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 72 137 0 ENST00000366932.3:c.575G>A p.Gly192Glu p.G192E ENST00000366932 NM_016052.3 192 gGa/gAa 0 -RSAD1 UCSF GRCh37 17 48559649 48559649 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 43 100 0 ENST00000258955.2:c.672C>T p.Ser224= p.S224= ENST00000258955 NM_018346.1 224 tcC/tcT 0 -RSPH10B UCSF GRCh37 7 5967960 5967960 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 583 156 606 0 ENST00000337579.3:c.2299G>A p.Val767Ile p.V767I ENST00000337579 767 Gtc/Atc 0 -RSU1 UCSF GRCh37 10 16794618 16794618 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 293 169 279 0 ENST00000345264.5:c.518C>T p.Pro173Leu p.P173L ENST00000345264 NM_012425.3 173 cCt/cTt 0 -RTCD1 UCSF GRCh37 1 100757039 100757039 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 158 114 257 0 ENST00000370128.4:c.1080G>A p.Gly360= p.G360= ENST00000370128 NM_003729.3 360 ggG/ggA 0 -RTL1 UCSF GRCh37 14 101348097 101348097 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 80 187 0 ENST00000534062.1:c.3029C>T p.Ala1010Val p.A1010V ENST00000534062 NM_001134888.2 1010 gCc/gTc 0 -RUFY2 UCSF GRCh37 10 70115139 70115139 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 21 108 0 ENST00000388768.2:c.1675G>A p.Asp559Asn p.D559N ENST00000388768 NM_017987.4 559 Gac/Aac 0 -RUSC1 UCSF GRCh37 1 155296523 155296523 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 49 126 0 ENST00000368352.5:c.2014C>T p.Pro672Ser p.P672S ENST00000368352 NM_001105203.1 672 Ccc/Tcc 0 -RYR1 UCSF GRCh37 19 38964107 38964107 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 22 72 0 ENST00000359596.3:c.3856C>T p.Leu1286Phe p.L1286F ENST00000359596 1286 Ctt/Ttt 0 -RYR2 UCSF GRCh37 1 237811891 237811891 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 67 136 0 ENST00000366574.2:c.7490G>A p.Arg2497Gln p.R2497Q ENST00000366574 NM_001035.2 2497 cGg/cAg 0 -RYR3 UCSF GRCh37 15 34023823 34023823 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 186 124 280 0 ENST00000389232.4:c.7352G>A p.Arg2451Lys p.R2451K ENST00000389232 NM_001036.3 2451 aGg/aAg 0 -RYR3 UCSF GRCh37 15 33936690 33936690 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 111 85 221 0 ENST00000389232.4:c.3735C>T p.Val1245= p.V1245= ENST00000389232 NM_001036.3 1245 gtC/gtT 0 -S100A7 UCSF GRCh37 1 153430419 153430419 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 195 30 176 1 ENST00000368722.1:c.169G>A p.Asp57Asn p.D57N ENST00000368722 57 Gat/Aat 0 -S100A7 UCSF GRCh37 1 153430418 153430418 + missense_variant Missense_Mutation SNP T T G NOVEL P18_Rec Untested WXS Illumina HiSeq 196 33 178 0 ENST00000368722.1:c.170A>C p.Asp57Ala p.D57A ENST00000368722 57 gAt/gCt 0 -S100A7 UCSF GRCh37 1 153430338 153430338 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.003,snp132_rs56232841 P18_Rec Untested WXS Illumina HiSeq 158 52 146 0 ENST00000368722.1:c.250A>G p.Thr84Ala p.T84A ENST00000368722 84 Aca/Gca 0 -S100A7 UCSF GRCh37 1 153430309 153430309 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 139 38 125 0 ENST00000368722.1:c.279A>G p.Ala93= p.A93= ENST00000368722 93 gcA/gcG 0 -S1PR3 UCSF GRCh37 9 91616518 91616518 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 63 63 138 0 ENST00000358157.2:c.403G>A p.Glu135Lys p.E135K ENST00000358157 NM_005226.3 135 Gag/Aag 0 -S1PR5 UCSF GRCh37 19 10625409 10625409 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 12 29 0 ENST00000333430.4:c.279C>T p.Ile93= p.I93= ENST00000333430 NM_030760.4 93 atC/atT 0 -SAFB UCSF GRCh37 19 5653197 5653197 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 58 55 115 0 ENST00000292123.5:c.1365C>T p.Ser455= p.S455= ENST00000292123 NM_002967.3 455 tcC/tcT 0 -SALL3 UCSF GRCh37 18 76753259 76753259 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 29 50 1 ENST00000537592.2:c.1268G>A p.Arg423His p.R423H ENST00000537592 NM_171999.3 423 cGc/cAc 0 -SAMD11 UCSF GRCh37 1 865678 865678 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 5 20 0 ENST00000342066.3:c.216G>A p.Lys72= p.K72= ENST00000342066 NM_152486.2 72 aaG/aaA 0 -SAMD15 UCSF GRCh37 14 77844599 77844599 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 143 129 269 0 ENST00000216471.4:c.838C>T p.Pro280Ser p.P280S ENST00000216471 NM_001010860.1 280 Cct/Tct 0 -SAMD9L UCSF GRCh37 7 92763754 92763754 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 143 99 195 0 ENST00000318238.4:c.1531C>T p.Pro511Ser p.P511S ENST00000318238 NM_152703.2 511 Cct/Tct 0 -SARS2 UCSF GRCh37 19 39421155 39421155 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 34 91 0 ENST00000221431.6:c.222G>A p.Leu74= p.L74= ENST00000221431 NM_017827.3 74 ctG/ctA 0 -SART1 UCSF GRCh37 11 65743941 65743941 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 27 17 54 0 ENST00000312397.5:c.1648G>A p.Ala550Thr p.A550T ENST00000312397 NM_005146.4 550 Gcc/Acc 0 -SBF1 UCSF GRCh37 22 50893824 50893824 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 29 23 58 0 ENST00000380817.3:c.4383G>A p.Val1461= p.V1461= ENST00000380817 NM_002972.2 1461 gtG/gtA 0 -SBK2 UCSF GRCh37 19 56041272 56041272 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 6 15 0 ENST00000344158.3:c.875C>T p.Pro292Leu p.P292L ENST00000344158 292 cCc/cTc 0 -SCAI UCSF GRCh37 9 127783049 127783049 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 76 164 0 ENST00000336505.6:c.513-1G>A p.X171_splice ENST00000336505 NM_001144877.2 0 -SCAPER UCSF GRCh37 15 77067433 77067433 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 136 82 189 0 ENST00000324767.7:c.798G>A p.Glu266= p.E266= ENST00000324767 NM_020843.2 266 gaG/gaA 0 -SCLY UCSF GRCh37 2 238973011 238973011 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 41 119 0 ENST00000254663.6:c.127G>A p.Asp43Asn p.D43N ENST00000254663 NM_016510.5 43 Gac/Aac 0 -SCN3A UCSF GRCh37 2 166003442 166003442 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 162 104 243 0 ENST00000360093.3:c.1478C>T p.Ser493Phe p.S493F ENST00000360093 NM_001081677.1 493 tCc/tTc 0 -SCNN1D UCSF GRCh37 1 1223152 1223152 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 6 13 0 ENST00000338555.2:c.1007C>T p.Pro336Leu p.P336L ENST00000338555 336 cCc/cTc 0 -SCO2 UCSF GRCh37 22 50962564 50962564 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 43 81 0 ENST00000252785.3:c.277G>A p.Ala93Thr p.A93T ENST00000252785 NM_001169111.1 93 Gcc/Acc 0 -SCOC UCSF GRCh37 4 141300319 141300319 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 199 142 313 0 ENST00000608372.1:c.226C>T p.Pro76Ser p.P76S ENST00000608372 76 Ccc/Tcc 0 -SCRIB UCSF GRCh37 8 144873903 144873903 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 19 48 0 ENST00000320476.3:c.4695+143C>T *1565* ENST00000320476 NM_015356.4 0 -SCYL1 UCSF GRCh37 11 65293669 65293669 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 33 71 0 ENST00000270176.5:c.450C>T p.Asp150= p.D150= ENST00000270176 NM_020680.3 150 gaC/gaT 0 -SDC4 UCSF GRCh37 20 43964433 43964433 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 54 122 0 ENST00000372733.3:c.188C>T p.Ser63Phe p.S63F ENST00000372733 NM_002999.3 63 tCt/tTt 0 -SDCCAG3 UCSF GRCh37 9 139301615 139301615 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 22 78 0 ENST00000357365.3:c.801G>A p.Leu267= p.L267= ENST00000357365 NM_001039707.1 267 ctG/ctA 0 -SDK1 UCSF GRCh37 7 4119212 4119212 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 68 168 0 ENST00000404826.2:c.3320G>A p.Gly1107Glu p.G1107E ENST00000404826 NM_152744.3 1107 gGg/gAg 0 -SEBOX UCSF GRCh37 17 26691913 26691913 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 30 58 0 ENST00000555059.2:c.394G>A p.Gly132Arg p.G132R ENST00000555059 132 Gga/Aga 0 -SEC11A UCSF GRCh37 15 85223946 85223946 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 158 111 232 0 ENST00000268220.7:c.429G>A p.Arg143= p.R143= ENST00000268220 NM_014300.3 143 agG/agA 0 -SEC13 UCSF GRCh37 3 10346745 10346745 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 40 87 0 ENST00000350697.3:c.680C>T p.Pro227Leu p.P227L ENST00000350697 NM_183352.2 227 cCc/cTc 0 -SEC14L6 UCSF GRCh37 22 30921822 30921822 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 40 111 0 ENST00000402034.2:c.762C>T p.Cys254= p.C254= ENST00000402034 NM_001193336.2 254 tgC/tgT 0 -SEC16A UCSF GRCh37 9 139361486 139361486 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 86 178 0 ENST00000313050.7:c.3852C>T p.Pro1284= p.P1284= ENST00000313050 NM_014866.1 1284 ccC/ccT 0 -SEC22A UCSF GRCh37 3 122928095 122928095 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 79 162 0 ENST00000309934.4:c.31C>T p.Arg11Cys p.R11C ENST00000309934 NM_012430.4 11 Cgt/Tgt 0 -SEC24B UCSF GRCh37 4 110394304 110394304 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 83 171 0 ENST00000265175.5:c.1022C>T p.Thr341Ile p.T341I ENST00000265175 NM_006323.2 341 aCc/aTc 0 -SEC24D UCSF GRCh37 4 119718875 119718875 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 69 158 0 ENST00000280551.6:c.1004C>T p.Ala335Val p.A335V ENST00000280551 335 gCt/gTt 0 -SEC31A UCSF GRCh37 4 83799897 83799897 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 71 150 0 ENST00000355196.2:c.388G>A p.Val130Met p.V130M ENST00000355196 130 Gtg/Atg 0 -SEC31B UCSF GRCh37 10 102258480 102258480 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 75 146 0 ENST00000370345.3:c.1666G>A p.Glu556Lys p.E556K ENST00000370345 NM_015490.3 556 Gag/Aag 0 -SEC61A1 UCSF GRCh37 3 127785931 127785931 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 142 94 194 0 ENST00000243253.3:c.912C>T p.Ile304= p.I304= ENST00000243253 NM_013336.3 304 atC/atT 0 -SELE UCSF GRCh37 1 169698710 169698710 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 91 175 0 ENST00000333360.7:c.820G>A p.Glu274Lys p.E274K ENST00000333360 NM_000450.2 274 Gaa/Aaa 0 -SELV UCSF GRCh37 19 40009788 40009788 + stop_retained_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 37 35 74 0 ENST00000335426.4:c.1041G>A p.Ter347= p.*347= ENST00000335426 NM_182704.1 347 taG/taA 0 -SEMA3E UCSF GRCh37 7 83047781 83047781 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 36 61 0 ENST00000307792.3:c.475G>A p.Glu159Lys p.E159K ENST00000307792 NM_012431.2 159 Gaa/Aaa 0 -SEMA4A UCSF GRCh37 1 156128558 156128558 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 156 99 220 0 ENST00000355014.2:c.511G>A p.Glu171Lys p.E171K ENST00000355014 NM_001193301.1 171 Gag/Aag 0 -SEMA4B UCSF GRCh37 15 90764230 90764230 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 47 98 0 ENST00000411539.2:c.500C>T p.Thr167Ile p.T167I ENST00000411539 NM_198925.2 167 aCc/aTc 0 -SEMA4C UCSF GRCh37 2 97529843 97529843 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 24 60 0 ENST00000305476.5:c.1150C>T p.Leu384= p.L384= ENST00000305476 NM_017789.4 384 Ctg/Ttg 0 -SEMA4D UCSF GRCh37 9 91978436 91978436 + downstream_gene_variant 3'Flank SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 26 60 0 ENST00000375807 NM_024077.3 0 -SEMA5A UCSF GRCh37 5 9122932 9122932 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 47 117 0 ENST00000382496.5:c.1617G>A p.Val539= p.V539= ENST00000382496 NM_003966.2 539 gtG/gtA 0 -SEMA6C UCSF GRCh37 1 151105838 151105838 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 8 19 0 ENST00000341697.3:c.1915G>A p.Asp639Asn p.D639N ENST00000341697 639 Gac/Aac 0 -SEMA6D UCSF GRCh37 15 48056446 48056446 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 83 151 0 ENST00000316364.5:c.1041G>A p.Gln347= p.Q347= ENST00000316364 NM_153618.1 347 caG/caA 0 -SEMG2 UCSF GRCh37 20 43852008 43852008 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 58 138 0 ENST00000372769.3:c.1735C>T p.Pro579Ser p.P579S ENST00000372769 NM_003008.2 579 Cca/Tca 0 -SEPN1 UCSF GRCh37 1 26131720 26131720 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 59 146 0 ENST00000361547.2:c.491C>T p.Pro164Leu p.P164L ENST00000361547 NM_020451.2 164 cCt/cTt 0 -SEPT1 UCSF GRCh37 16 30392662 30392662 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 74 94 0 ENST00000321367.3:c.579G>A p.Arg193= p.R193= ENST00000321367 NM_052838.4 193 cgG/cgA 0 -SEPT3 UCSF GRCh37 22 42388723 42388723 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 13 45 0 ENST00000396426.3:c.821G>A p.Gly274Asp p.G274D ENST00000396426 NM_145733.2 274 gGc/gAc 0 -SEPT3 UCSF GRCh37 22 42382070 42382070 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 29 57 0 ENST00000396426.3:c.285G>A p.Arg95= p.R95= ENST00000396426 NM_145733.2 95 cgG/cgA 0 -SERAC1 UCSF GRCh37 6 158576362 158576362 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 39 90 0 ENST00000367104.3:c.113G>A p.Gly38Glu p.G38E ENST00000367104 NM_032861.3 38 gGa/gAa 0 -SERPINB12 UCSF GRCh37 18 61228327 61228327 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 111 262 0 ENST00000269491.1:c.394G>A p.Asp132Asn p.D132N ENST00000269491 NM_080474.1 132 Gat/Aat 0 -SERPINB3 UCSF GRCh37 18 61323037 61323037 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 144 104 202 0 ENST00000283752.5:c.1027G>A p.Ala343Thr p.A343T ENST00000283752 NM_006919.2 343 Gct/Act 0 -SERPINF1 UCSF GRCh37 17 1675304 1675304 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 36 107 0 ENST00000254722.4:c.578C>T p.Ala193Val p.A193V ENST00000254722 NM_002615.5 193 gCc/gTc 0 -SETBP1 UCSF GRCh37 18 42531407 42531407 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 61 107 0 ENST00000282030.5:c.2102G>A p.Gly701Glu p.G701E ENST00000282030 NM_015559.2 701 gGg/gAg 0 -SETD1A UCSF GRCh37 16 30977303 30977303 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 54 143 0 ENST00000262519.8:c.2101G>A p.Ala701Thr p.A701T ENST00000262519 NM_014712.1 701 Gcc/Acc 0 -SETMAR UCSF GRCh37 3 4355176 4355176 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 352 86 190 0 ENST00000358065.4:c.751G>A p.Asp251Asn p.D251N ENST00000358065 NM_006515.3 251 Gat/Aat 0 -SEZ6 UCSF GRCh37 17 27286898 27286898 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 24 54 0 ENST00000317338.12:c.1589G>A p.Gly530Asp p.G530D ENST00000317338 530 gGc/gAc 0 -SF3B2 UCSF GRCh37 11 65824827 65824827 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 77 160 0 ENST00000322535.6:c.758C>T p.Pro253Leu p.P253L ENST00000322535 NM_006842.2 253 cCt/cTt 0 -SFSWAP UCSF GRCh37 12 132237854 132237854 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 50 89 0 ENST00000261674.4:c.1268C>T p.Pro423Leu p.P423L ENST00000261674 NM_004592.3 423 cCc/cTc 0 -SFTPA1 UCSF GRCh37 10 81371624 81371624 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 85 173 0 ENST00000398636.3:c.43G>A p.Ala15Thr p.A15T ENST00000398636 NM_005411.4 15 Gcc/Acc 0 -SFTPA2 UCSF GRCh37 10 81319071 81319071 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 48 134 0 ENST00000372325.2:c.169C>T p.Pro57Ser p.P57S ENST00000372325 NM_001098668.2 57 Cca/Tca 0 -SGIP1 UCSF GRCh37 1 67195022 67195022 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0022 P18_Rec Untested WXS Illumina HiSeq 113 81 185 0 ENST00000371037.4:c.1818G>A p.Pro606= p.P606= ENST00000371037 NM_032291.2 606 ccG/ccA 0 -PRAG1 UCSF GRCh37 8 8185635 8185635 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 158 124 201 0 ENST00000520004.1:c.2657G>A p.Gly886Asp p.G886D ENST00000520004 886 gGc/gAc 0 -PRAG1 UCSF GRCh37 8 8185896 8185896 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 39 87 0 ENST00000520004.1:c.2396C>T p.Thr799Ile p.T799I ENST00000520004 799 aCt/aTt 0 -PRAG1 UCSF GRCh37 8 8176294 8176294 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 12 9 35 0 ENST00000520004.1:c.3591G>A p.Pro1197= p.P1197= ENST00000520004 1197 ccG/ccA 0 -SGMS1 UCSF GRCh37 10 52067029 52067029 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 48 94 0 ENST00000361781.2:c.1115G>A p.Arg372Lys p.R372K ENST00000361781 NM_147156.3 372 aGg/aAg 0 -SGPL1 UCSF GRCh37 10 72619236 72619236 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 44 107 0 ENST00000373202.3:c.595G>A p.Gly199Arg p.G199R ENST00000373202 NM_003901.3 199 Gga/Aga 0 -SGPP2 UCSF GRCh37 2 223423585 223423585 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 72 154 0 ENST00000321276.7:c.1168C>T p.Pro390Ser p.P390S ENST00000321276 NM_152386.2 390 Ccg/Tcg 0 -SH3BP4 UCSF GRCh37 2 235949844 235949844 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 102 61 153 0 ENST00000344528.4:c.431G>A p.Gly144Glu p.G144E ENST00000344528 144 gGa/gAa 0 -SH3BP4 UCSF GRCh37 2 235949878 235949878 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 66 165 0 ENST00000344528.4:c.465G>A p.Met155Ile p.M155I ENST00000344528 155 atG/atA 0 -SH3RF2 UCSF GRCh37 5 145442142 145442142 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 53 119 0 ENST00000359120.4:c.2068G>A p.Ala690Thr p.A690T ENST00000359120 NM_152550.3 690 Gcc/Acc 0 -SHANK1 UCSF GRCh37 19 51172385 51172385 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 6 8 16 0 ENST00000293441.1:c.2832C>T p.Arg944= p.R944= ENST00000293441 NM_016148.2 944 cgC/cgT 0 -SHANK2 UCSF GRCh37 11 70319358 70319358 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 48 126 0 ENST00000423696.2:c.4029G>A p.Leu1343= p.L1343= ENST00000423696 1343 ctG/ctA 0 -SHC1 UCSF GRCh37 1 154942558 154942558 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 61 133 0 ENST00000368445.5:c.445C>T p.Leu149= p.L149= ENST00000368445 NM_183001.4 149 Ctg/Ttg 0 -SHC2 UCSF GRCh37 19 422180 422180 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 26 45 0 ENST00000264554.6:c.1586C>T p.Pro529Leu p.P529L ENST00000264554 NM_012435.2 529 cCc/cTc 0 -SHD UCSF GRCh37 19 4288240 4288240 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 63 25 97 0 ENST00000543264.2:c.717G>A p.Pro239= p.P239= ENST00000543264 NM_020209.3 239 ccG/ccA 0 -SHMT1 UCSF GRCh37 17 18250882 18250882 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 80 190 0 ENST00000316694.3:c.447G>A p.Leu149= p.L149= ENST00000316694 NM_004169.3 149 ctG/ctA 0 -SHROOM3 UCSF GRCh37 4 77700237 77700237 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 76 168 0 ENST00000296043.6:c.5898C>T p.Ala1966= p.A1966= ENST00000296043 NM_020859.3 1966 gcC/gcT 0 -SI UCSF GRCh37 3 164750338 164750338 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 68 180 0 ENST00000264382.3:c.2708C>T p.Ser903Phe p.S903F ENST00000264382 NM_001041.3 903 tCc/tTc 0 -SIGLEC1 UCSF GRCh37 20 3677521 3677521 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 39 22 50 0 ENST00000344754.4:c.2395C>T p.Pro799Ser p.P799S ENST00000344754 NM_023068.3 799 Cca/Tca 0 -SIK1 UCSF GRCh37 21 44839319 44839319 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 24 18 46 0 ENST00000270162.6:c.1159G>A p.Ala387Thr p.A387T ENST00000270162 NM_173354.3 387 Gcc/Acc 0 -SIK2 UCSF GRCh37 11 111591297 111591297 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 76 157 0 ENST00000304987.3:c.1591G>A p.Asp531Asn p.D531N ENST00000304987 NM_015191.1 531 Gac/Aac 0 -SIL1 UCSF GRCh37 5 138282962 138282962 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 23 79 0 ENST00000265195.5:c.1230C>T p.Asp410= p.D410= ENST00000265195 NM_001037633.1 410 gaC/gaT 0 -SIN3A UCSF GRCh37 15 75715130 75715130 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 78 31 141 0 ENST00000360439.4:c.224G>A p.Gly75Glu p.G75E ENST00000360439 NM_001145357.1 75 gGg/gAg 0 -SIPA1L1 UCSF GRCh37 14 72196876 72196876 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 60 175 1 ENST00000555818.1:c.4782G>A p.Arg1594= p.R1594= ENST00000555818 NM_015556.1 1594 agG/agA 0 -SIPA1L3 UCSF GRCh37 19 38597280 38597280 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 58 116 0 ENST00000222345.6:c.2133G>A p.Gln711= p.Q711= ENST00000222345 NM_015073.1 711 caG/caA 0 -SKAP2 UCSF GRCh37 7 26778483 26778483 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 81 163 0 ENST00000345317.2:c.400G>A p.Gly134Arg p.G134R ENST00000345317 NM_003930.3 134 Gga/Aga 0 -SKI UCSF GRCh37 1 2235395 2235395 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 18 36 0 ENST00000378536.4:c.1328C>T p.Pro443Leu p.P443L ENST00000378536 NM_003036.3 443 cCc/cTc 0 -SKIC2 UCSF GRCh37 6 31936246 31936246 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 50 92 0 ENST00000375394.2:c.3000C>T p.Leu1000= p.L1000= ENST00000375394 NM_006929.4 1000 ctC/ctT 0 -SKIC2 UCSF GRCh37 6 31928217 31928217 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 173 135 282 0 ENST00000375394.2:c.363G>A p.Leu121= p.L121= ENST00000375394 NM_006929.4 121 ctG/ctA 0 -SKIV2L2 UCSF GRCh37 5 54640934 54640934 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 32 84 0 ENST00000230640.5:c.1018G>A p.Glu340Lys p.E340K ENST00000230640 NM_015360.4 340 Gaa/Aaa 0 -SLAMF1 UCSF GRCh37 1 160607134 160607134 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 88 193 0 ENST00000302035.6:c.262C>T p.Pro88Ser p.P88S ENST00000302035 NM_003037.2 88 Cct/Tct 0 -SLAMF6 UCSF GRCh37 1 160465922 160465922 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 99 178 0 ENST00000368057.3:c.311C>T p.Thr104Ile p.T104I ENST00000368057 104 aCa/aTa 0 -SLC12A3 UCSF GRCh37 16 56913080 56913080 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 44 10 54 1 ENST00000563236.1:c.1276A>G p.Asn426Asp p.N426D ENST00000563236 426 Aac/Gac 0 -SLC14A2 UCSF GRCh37 18 43212405 43212405 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 89 212 0 ENST00000255226.6:c.612G>T p.Trp204Cys p.W204C ENST00000255226 NM_007163.3 204 tgG/tgT 0 -SLC15A1 UCSF GRCh37 13 99361913 99361913 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 62 61 146 0 ENST00000376503.5:c.980C>T p.Thr327Ile p.T327I ENST00000376503 NM_005073.3 327 aCc/aTc 0 -SLC15A2 UCSF GRCh37 3 121659250 121659250 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 52 113 0 ENST00000489711.1:c.1928C>T p.Ser643Phe p.S643F ENST00000489711 NM_021082.3 643 tCt/tTt 0 -SLC15A3 UCSF GRCh37 11 60706981 60706981 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 21 63 0 ENST00000227880.3:c.1406G>A p.Gly469Glu p.G469E ENST00000227880 NM_016582.2 469 gGg/gAg 0 -SLC16A1 UCSF GRCh37 1 113464699 113464699 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 73 149 0 ENST00000369626.3:c.274G>A p.Gly92Ser p.G92S ENST00000369626 NM_003051.3 92 Ggt/Agt 0 -SLC17A3 UCSF GRCh37 6 25850111 25850111 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 92 201 0 ENST00000360657.3:c.959C>T p.Ala320Val p.A320V ENST00000360657 320 gCc/gTc 0 -SLC17A9 UCSF GRCh37 20 61588814 61588814 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 36 85 0 ENST00000370351.4:c.279C>T p.Ile93= p.I93= ENST00000370351 NM_022082.3 93 atC/atT 0 -SLC18A3 UCSF GRCh37 10 50819055 50819055 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 35 81 0 ENST00000374115.3:c.269C>T p.Ala90Val p.A90V ENST00000374115 NM_003055.2 90 gCc/gTc 0 -SLC19A3 UCSF GRCh37 2 228564098 228564098 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 140 120 262 0 ENST00000258403.3:c.333C>T p.Phe111= p.F111= ENST00000258403 NM_025243.3 111 ttC/ttT 0 -SLC1A7 UCSF GRCh37 1 53569205 53569205 + synonymous_variant Silent SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 14 6 24 0 ENST00000371494.4:c.510C>T p.Pro170= p.P170= ENST00000371494 NM_006671.4 170 ccC/ccT 0 -SLC1A7 UCSF GRCh37 1 53558287 53558287 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 43 92 0 ENST00000371494.4:c.970C>T p.Pro324Ser p.P324S ENST00000371494 NM_006671.4 324 Ccc/Tcc 0 -SLC22A23 UCSF GRCh37 6 3324091 3324091 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 32 18 58 0 ENST00000406686.3:c.1059C>T p.Phe353= p.F353= ENST00000406686 NM_015482.1 353 ttC/ttT 0 -SLC22A24 UCSF GRCh37 11 62910949 62910949 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 59 186 0 ENST00000326192.5:c.303G>A p.Leu101= p.L101= ENST00000326192 101 ctG/ctA 0 -SLC22A9 UCSF GRCh37 11 63174117 63174117 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 78 120 0 ENST00000279178.3:c.1222G>A p.Ala408Thr p.A408T ENST00000279178 NM_080866.2 408 Gca/Aca 0 -SLC22A9 UCSF GRCh37 11 63176153 63176153 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 53 109 0 ENST00000279178.3:c.1403G>A p.Arg468Lys p.R468K ENST00000279178 NM_080866.2 468 aGa/aAa 0 -SLC22A9 UCSF GRCh37 11 63174096 63174096 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Rec Untested WXS Illumina HiSeq 104 89 141 0 ENST00000279178.3:c.1201C>G p.Leu401Val p.L401V ENST00000279178 NM_080866.2 401 Ctg/Gtg 0 -SLC23A2 UCSF GRCh37 20 4842731 4842731 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 50 104 0 ENST00000338244.1:c.1487G>A p.Gly496Glu p.G496E ENST00000338244 NM_005116.5 496 gGa/gAa 0 -SLC24A1 UCSF GRCh37 15 65917613 65917613 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 121 66 174 0 ENST00000261892.6:c.1195C>T p.Pro399Ser p.P399S ENST00000261892 NM_004727.2 399 Cca/Tca 0 -SLC24A1 UCSF GRCh37 15 65943185 65943185 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 79 201 0 ENST00000261892.6:c.2698G>A p.Asp900Asn p.D900N ENST00000261892 NM_004727.2 900 Gac/Aac 0 -SLC24A3 UCSF GRCh37 20 19261715 19261715 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 45 130 0 ENST00000328041.6:c.255G>A p.Lys85= p.K85= ENST00000328041 NM_020689.3 85 aaG/aaA 0 -SLC24A6 UCSF GRCh37 12 113744348 113744348 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 39 67 0 ENST00000202831.3:c.1444G>A p.Gly482Ser p.G482S ENST00000202831 NM_024959.2 482 Ggc/Agc 0 -SLC24A6 UCSF GRCh37 12 113753213 113753213 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 6 9 20 0 ENST00000202831.3:c.1062G>A p.Trp354Ter p.W354* ENST00000202831 NM_024959.2 354 tgG/tgA 0 -SLC25A13 UCSF GRCh37 7 95799390 95799390 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 142 113 237 0 ENST00000265631.5:c.1278C>T p.Val426= p.V426= ENST00000265631 426 gtC/gtT 0 -SLC25A32 UCSF GRCh37 8 104417054 104417054 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 39 98 0 ENST00000297578.4:c.341G>A p.Arg114Lys p.R114K ENST00000297578 NM_030780.4 114 aGa/aAa 0 -SLC26A2 UCSF GRCh37 5 149360728 149360728 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 174 152 280 0 ENST00000286298.4:c.1572G>A p.Leu524= p.L524= ENST00000286298 NM_000112.3 524 ctG/ctA 0 -SLC26A7 UCSF GRCh37 8 92307932 92307932 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 57 118 0 ENST00000276609.3:c.477+1G>A p.X159_splice ENST00000276609 NM_052832.2 0 -SLC27A4 UCSF GRCh37 9 131107677 131107677 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 45 31 58 0 ENST00000300456.4:c.405C>T p.Asn135= p.N135= ENST00000300456 NM_005094.3 135 aaC/aaT 0 -SLC29A1 UCSF GRCh37 6 44199835 44199835 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 51 92 0 ENST00000371708.1:c.965G>A p.Ser322Asn p.S322N ENST00000371708 322 aGc/aAc 0 -SLC2A1 UCSF GRCh37 1 43395384 43395384 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 76 161 0 ENST00000426263.3:c.747G>A p.Arg249= p.R249= ENST00000426263 NM_006516.2 249 cgG/cgA 0 -SLC35A5 UCSF GRCh37 3 112299912 112299912 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 117 75 193 0 ENST00000492406.1:c.948G>A p.Gln316= p.Q316= ENST00000492406 NM_017945.3 316 caG/caA 0 -SLC35B2 UCSF GRCh37 6 44223172 44223172 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 92 161 0 ENST00000393812.3:c.570C>T p.Ser190= p.S190= ENST00000393812 NM_178148.2 190 agC/agT 0 -SLC35C2 UCSF GRCh37 20 44979157 44979157 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 63 45 106 0 ENST00000243896.2:c.974G>A p.Gly325Asp p.G325D ENST00000243896 NM_173179.3 325 gGt/gAt 0 -SLC35D2 UCSF GRCh37 9 99106194 99106194 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 155 126 318 0 ENST00000253270.7:c.676C>T p.Leu226= p.L226= ENST00000253270 NM_007001.2 226 Ctg/Ttg 0 -SLC36A3 UCSF GRCh37 5 150663711 150663711 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 152 101 237 0 ENST00000335230.3:c.868G>A p.Gly290Arg p.G290R ENST00000335230 NM_181774.3 290 Ggg/Agg 0 -SLC38A1 UCSF GRCh37 12 46582843 46582843 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 95 204 0 ENST00000398637.5:c.1374C>T p.Phe458= p.F458= ENST00000398637 NM_030674.3 458 ttC/ttT 0 -SLC38A7 UCSF GRCh37 16 58701337 58701337 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 61 103 0 ENST00000219320.4:c.1341C>T p.Ile447= p.I447= ENST00000219320 NM_018231.1 447 atC/atT 0 -SLC39A1 UCSF GRCh37 1 153932594 153932594 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 64 125 0 ENST00000310483.6:c.955C>T p.Leu319= p.L319= ENST00000310483 NM_014437.4 319 Ctg/Ttg 0 -SLC39A13 UCSF GRCh37 11 47436366 47436366 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 40 138 0 ENST00000362021.4:c.825C>T p.Asp275= p.D275= ENST00000362021 NM_001128225.2 275 gaC/gaT 0 -SLC39A4 UCSF GRCh37 8 145641309 145641309 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 4 19 0 ENST00000301305.3:c.359C>T p.Ala120Val p.A120V ENST00000301305 NM_130849.3 120 gCc/gTc 0 -SLC41A2 UCSF GRCh37 12 105239662 105239662 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 66 131 0 ENST00000258538.3:c.1346C>T p.Pro449Leu p.P449L ENST00000258538 NM_032148.3 449 cCc/cTc 0 -SLC44A2 UCSF GRCh37 19 10748407 10748407 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 76 200 0 ENST00000335757.5:c.1679G>A p.Arg560Lys p.R560K ENST00000335757 560 aGg/aAg 0 -SLC44A4 UCSF GRCh37 6 31831431 31831431 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 32 23 42 0 ENST00000229729.6:c.2106C>T p.Pro702= p.P702= ENST00000229729 NM_025257.2 702 ccC/ccT 0 -SLC4A4 UCSF GRCh37 4 72429552 72429552 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 151 110 223 0 ENST00000264485.5:c.3142C>T p.Pro1048Ser p.P1048S ENST00000264485 NM_001098484.2 1048 Cca/Tca 0 -SLC4A4 UCSF GRCh37 4 72432773 72432773 + 3_prime_UTR_variant 3'UTR SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 49 138 0 ENST00000264485.5:c.*9C>T *3* ENST00000264485 NM_001098484.2 0 -SLC5A10 UCSF GRCh37 17 18922759 18922759 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 16 48 0 ENST00000395645.3:c.1265G>A p.Gly422Asp p.G422D ENST00000395645 NM_001042450.2 422 gGc/gAc 0 -SLC5A3 UCSF GRCh37 21 35469301 35469301 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 155 99 238 0 ENST00000381151.3:c.1804G>A p.Asp602Asn p.D602N ENST00000381151 602 Gat/Aat 0 -SLC5A5 UCSF GRCh37 19 17986914 17986914 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 40 79 0 ENST00000222248.3:c.697G>A p.Asp233Asn p.D233N ENST00000222248 NM_000453.2 233 Gac/Aac 0 -SLC5A8 UCSF GRCh37 12 101603315 101603315 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 32 27 48 0 ENST00000536262.2:c.312C>T p.Leu104= p.L104= ENST00000536262 NM_145913.3 104 ctC/ctT 0 -SLC6A18 UCSF GRCh37 5 1243822 1243822 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 41 76 0 ENST00000324642.3:c.1284C>T p.Pro428= p.P428= ENST00000324642 NM_182632.2 428 ccC/ccT 0 -SLC6A3 UCSF GRCh37 5 1422087 1422087 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 62 125 0 ENST00000270349.9:c.696C>T p.Asp232= p.D232= ENST00000270349 NM_001044.4 232 gaC/gaT 0 -SLC6A5 UCSF GRCh37 11 20628611 20628611 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 36 86 0 ENST00000525748.1:c.738C>T p.Phe246= p.F246= ENST00000525748 NM_004211.3 246 ttC/ttT 0 -SLC9A10 UCSF GRCh37 3 111993771 111993771 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 158 109 209 0 ENST00000305815.5:c.586C>T p.Leu196= p.L196= ENST00000305815 NM_183061.1 196 Cta/Tta 0 -SLC9A3 UCSF GRCh37 5 483527 483527 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 3 23 0 ENST00000264938.3:c.1003G>A p.Val335Met p.V335M ENST00000264938 NM_004174.2 335 Gtg/Atg 0 -SLC9A5 UCSF GRCh37 16 67300129 67300129 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 51 39 80 0 ENST00000299798.11:c.2218+1G>A p.X740_splice ENST00000299798 NM_004594.2 0 -SLFN5 UCSF GRCh37 17 33591579 33591579 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 87 211 0 ENST00000299977.4:c.1516G>A p.Val506Ile p.V506I ENST00000299977 NM_144975.3 506 Gtt/Att 0 -SLIT1 UCSF GRCh37 10 98945240 98945240 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 8 31 0 ENST00000266058.4:c.192G>A p.Glu64= p.E64= ENST00000266058 NM_003061.2 64 gaG/gaA 0 -SLITRK5 UCSF GRCh37 13 88328840 88328840 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 45 120 0 ENST00000325089.6:c.1197G>A p.Glu399= p.E399= ENST00000325089 NM_015567.1 399 gaG/gaA 0 -SLX4 UCSF GRCh37 16 3647861 3647861 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 76 132 0 ENST00000294008.3:c.1303G>A p.Gly435Ser p.G435S ENST00000294008 NM_032444.2 435 Ggt/Agt 0 -SMAP2 UCSF GRCh37 1 40882730 40882730 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 44 41 59 0 ENST00000372718.3:c.1126G>A p.Val376Ile p.V376I ENST00000372718 NM_022733.2 376 Gtc/Atc 0 -SMARCA4 UCSF GRCh37 19 11144114 11144114 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 99 70 162 0 ENST00000344626.4:c.3695G>A p.Gly1232Asp p.G1232D ENST00000344626 NM_003072.3 1232 gGc/gAc 0 -SMARCA4 UCSF GRCh37 19 11145748 11145748 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 17 30 0 ENST00000344626.4:c.4110C>T p.Gly1370= p.G1370= ENST00000344626 NM_003072.3 1370 ggC/ggT 0 -SMARCAD1 UCSF GRCh37 4 95173835 95173835 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 23 62 0 ENST00000354268.4:c.958C>T p.Pro320Ser p.P320S ENST00000354268 320 Cct/Tct 0 -SMARCB1 UCSF GRCh37 22 24145540 24145540 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 21 67 190 0 ENST00000263121.7:c.559G>A p.Val187Ile p.V187I ENST00000263121 NM_003073.3 187 Gtc/Atc 0 -SMC4 UCSF GRCh37 3 160130152 160130152 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 86 161 0 ENST00000344722.5:c.891C>T p.Ala297= p.A297= ENST00000344722 NM_005496.3 297 gcC/gcT 0 -SMG1 UCSF GRCh37 16 18896968 18896968 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 360 147 308 0 ENST00000446231.2:c.843G>A p.Gln281= p.Q281= ENST00000446231 281 caG/caA 0 -SMG6 UCSF GRCh37 17 2203390 2203390 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 91 200 0 ENST00000263073.6:c.657G>A p.Arg219= p.R219= ENST00000263073 NM_017575.4 219 agG/agA 0 -SMG9 UCSF GRCh37 19 44251867 44251867 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 8 17 0 ENST00000270066.6:c.408G>A p.Glu136= p.E136= ENST00000270066 NM_019108.2 136 gaG/gaA 0 -SMYD2 UCSF GRCh37 1 214504359 214504359 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 80 215 0 ENST00000366957.5:c.883G>A p.Val295Ile p.V295I ENST00000366957 NM_020197.2 295 Gtc/Atc 0 -SNAP25 UCSF GRCh37 20 10279964 10279964 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 96 235 0 ENST00000254976.2:c.456G>A p.Gln152= p.Q152= ENST00000254976 NM_130811.2 152 caG/caA 0 -SNAPC4 UCSF GRCh37 9 139279233 139279233 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 56 184 0 ENST00000298532.2:c.1359G>A p.Lys453= p.K453= ENST00000298532 NM_003086.2 453 aaG/aaA 0 -SNCAIP UCSF GRCh37 5 121787009 121787009 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 79 169 0 ENST00000261368.8:c.2467G>A p.Val823Met p.V823M ENST00000261368 NM_005460.2 823 Gtg/Atg 0 -SNCAIP UCSF GRCh37 5 121758579 121758579 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 62 143 0 ENST00000261368.8:c.147G>A p.Trp49Ter p.W49* ENST00000261368 NM_005460.2 49 tgG/tgA 0 -SMT-ND1 UCSF GRCh37 7 127343361 127343361 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 60 116 0 ENST00000354725.3:c.824G>A p.Gly275Asp p.G275D ENST00000354725 NM_014390.2 275 gGt/gAt 0 -SNRNP25 UCSF GRCh37 16 105853 105853 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 28 63 0 ENST00000383018.3:c.237G>A p.Glu79= p.E79= ENST00000383018 NM_024571.3 79 gaG/gaA 0 -SNRPA1 UCSF GRCh37 15 101826467 101826467 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 59 154 0 ENST00000254193.6:c.491G>A p.Gly164Asp p.G164D ENST00000254193 NM_003090.2 164 gGc/gAc 0 -SNRPB UCSF GRCh37 20 2448337 2448337 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 71 169 0 ENST00000438552.2:c.71G>A p.Gly24Asp p.G24D ENST00000438552 NM_198216.1 24 gGc/gAc 0 -SNTG1 UCSF GRCh37 8 51415431 51415431 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 61 108 0 ENST00000518864.1:c.457G>A p.Asp153Asn p.D153N ENST00000518864 153 Gat/Aat 0 -SNW1 UCSF GRCh37 14 78198932 78198932 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 67 172 0 ENST00000261531.7:c.787C>T p.Pro263Ser p.P263S ENST00000261531 NM_012245.2 263 Cca/Tca 0 -SNX24 UCSF GRCh37 5 122281781 122281781 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 48 90 0 ENST00000261369.4:c.176C>T p.Pro59Leu p.P59L ENST00000261369 NM_014035.2 59 cCt/cTt 0 -SNX27 UCSF GRCh37 1 151638437 151638437 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 116 58 159 0 ENST00000458013.2:c.935G>A p.Ser312Asn p.S312N ENST00000458013 312 aGt/aAt 0 -SNX33 UCSF GRCh37 15 75949512 75949512 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 110 77 156 0 ENST00000308527.5:c.1681G>A p.Gly561Ser p.G561S ENST00000308527 NM_153271.1 561 Ggc/Agc 0 -SOCS6 UCSF GRCh37 18 67992170 67992170 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 88 207 0 ENST00000397942.3:c.266G>A p.Gly89Asp p.G89D ENST00000397942 NM_004232.3 89 gGc/gAc 0 -SON UCSF GRCh37 21 34945614 34945614 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 69 161 0 ENST00000356577.4:c.6886G>A p.Asp2296Asn p.D2296N ENST00000356577 NM_138927.2 2296 Gat/Aat 0 -SORCS1 UCSF GRCh37 10 108357112 108357112 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 41 83 0 ENST00000263054.6:c.3262G>A p.Ala1088Thr p.A1088T ENST00000263054 NM_001206570.1 1088 Gcg/Acg 0 -SORCS3 UCSF GRCh37 10 106802835 106802835 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 90 207 0 ENST00000369701.3:c.977G>A p.Gly326Glu p.G326E ENST00000369701 NM_014978.1 326 gGa/gAa 0 -SOX2 UCSF GRCh37 3 181430304 181430304 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 72 44 87 0 ENST00000325404.1:c.156C>T p.Ser52= p.S52= ENST00000325404 NM_003106.3 52 tcC/tcT 0 -SOX8 UCSF GRCh37 16 1035317 1035317 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 10 21 0 ENST00000293894.3:c.1272C>T p.Ala424= p.A424= ENST00000293894 NM_014587.3 424 gcC/gcT 0 -SPAG5 UCSF GRCh37 17 26905492 26905492 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 64 146 0 ENST00000321765.5:c.3253G>A p.Glu1085Lys p.E1085K ENST00000321765 NM_006461.3 1085 Gag/Aag 0 -SPATA19 UCSF GRCh37 11 133711925 133711925 + splice_region_variant,3_prime_UTR_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 64 122 0 ENST00000299140.3:c.*9G>A p.X3_splice ENST00000299140 NM_174927.1 0 -SPATA4 UCSF GRCh37 4 177113852 177113852 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 59 149 0 ENST00000280191.2:c.614C>T p.Thr205Ile p.T205I ENST00000280191 NM_144644.2 205 aCc/aTc 0 -SPATA4 UCSF GRCh37 4 177113937 177113937 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 43 101 0 ENST00000280191.2:c.529C>T p.Pro177Ser p.P177S ENST00000280191 NM_144644.2 177 Ccc/Tcc 0 -SPDYE1 UCSF GRCh37 7 44047166 44047166 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 153 84 326 0 ENST00000258704.3:c.932C>T p.Ser311Phe p.S311F ENST00000258704 NM_175064.2 311 tCc/tTc 0 -SPEN UCSF GRCh37 1 16255398 16255398 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 220 163 308 0 ENST00000375759.3:c.2663G>A p.Gly888Glu p.G888E ENST00000375759 NM_015001.2 888 gGa/gAa 0 -SPEN UCSF GRCh37 1 16264397 16264397 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 78 160 0 ENST00000375759.3:c.10600G>A p.Ala3534Thr p.A3534T ENST00000375759 NM_015001.2 3534 Gcc/Acc 0 -SPEN UCSF GRCh37 1 16264466 16264466 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 70 103 0 ENST00000375759.3:c.10669G>A p.Ala3557Thr p.A3557T ENST00000375759 NM_015001.2 3557 Gca/Aca 0 -SPG11 UCSF GRCh37 15 44887641 44887641 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 49 116 0 ENST00000261866.7:c.4451C>T p.Ser1484Phe p.S1484F ENST00000261866 NM_025137.3 1484 tCt/tTt 0 -SPG20 UCSF GRCh37 13 36886372 36886372 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 124 111 208 0 ENST00000355182.4:c.1643G>A p.Gly548Glu p.G548E ENST00000355182 NM_001142294.1 548 gGa/gAa 0 -SPHK1 UCSF GRCh37 17 74382100 74382100 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 9 35 0 ENST00000392496.3:c.45C>T p.Cys15= p.C15= ENST00000392496 NM_001142602.1 15 tgC/tgT 0 -SPHKAP UCSF GRCh37 2 228883796 228883796 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 55 133 0 ENST00000392056.3:c.1774G>A p.Ala592Thr p.A592T ENST00000392056 NM_001142644.1 592 Gca/Aca 0 -SPINK5 UCSF GRCh37 5 147478850 147478850 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 51 111 0 ENST00000256084.7:c.1064G>A p.Arg355Lys p.R355K ENST00000256084 NM_006846.3 355 aGa/aAa 0 -SPINK7 UCSF GRCh37 5 147692956 147692956 + synonymous_variant Silent SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 133 87 197 0 ENST00000274565.4:c.81A>G p.Pro27= p.P27= ENST00000274565 NM_032566.2 27 ccA/ccG 0 -SPINK8 UCSF GRCh37 3 48351427 48351427 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 63 33 78 0 ENST00000434006.1:c.249G>A p.Gly83= p.G83= ENST00000434006 NM_001080525.1 83 ggG/ggA 0 -SPIRE1 UCSF GRCh37 18 12546786 12546786 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 158 126 260 0 ENST00000409402.4:c.490G>A p.Val164Met p.V164M ENST00000409402 NM_001128626.1 164 Gtg/Atg 0 -SPIRE1 UCSF GRCh37 18 12464913 12464913 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 37 71 0 ENST00000409402.4:c.1449C>T p.Pro483= p.P483= ENST00000409402 NM_001128626.1 483 ccC/ccT 0 -SPNS1 UCSF GRCh37 16 28993726 28993726 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 44 134 0 ENST00000311008.11:c.1015C>T p.Leu339= p.L339= ENST00000311008 NM_032038.2 339 Ctg/Ttg 0 -SPRED1 UCSF GRCh37 15 38641642 38641642 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 83 125 0 ENST00000299084.4:c.602G>A p.Gly201Asp p.G201D ENST00000299084 NM_152594.2 201 gGc/gAc 0 -SPTAN1 UCSF GRCh37 9 131394412 131394412 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 22 52 0 ENST00000372731.4:c.6754C>T p.His2252Tyr p.H2252Y ENST00000372731 NM_003127.3 2252 Cac/Tac 0 -SPTAN1 UCSF GRCh37 9 131349977 131349977 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 45 108 0 ENST00000372731.4:c.2871G>A p.Arg957= p.R957= ENST00000372731 NM_003127.3 957 cgG/cgA 0 -SPTBN5 UCSF GRCh37 15 42179555 42179555 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 18 41 0 ENST00000320955.6:c.744G>A p.Glu248= p.E248= ENST00000320955 NM_016642.3 248 gaG/gaA 0 -SPZ1 UCSF GRCh37 5 79616573 79616573 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 97 251 0 ENST00000296739.4:c.539C>T p.Ala180Val p.A180V ENST00000296739 NM_032567.3 180 gCc/gTc 0 -SRCAP UCSF GRCh37 16 30722945 30722945 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 85 150 0 ENST00000262518.4:c.1372G>A p.Gly458Ser p.G458S ENST00000262518 NM_006662.2 458 Ggc/Agc 0 -SRCAP UCSF GRCh37 16 30724618 30724618 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 109 212 0 ENST00000262518.4:c.2220G>A p.Trp740Ter p.W740* ENST00000262518 NM_006662.2 740 tgG/tgA 0 -SRCIN1 UCSF GRCh37 17 36714548 36714548 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 36 79 0 ENST00000264659.7:c.2116G>A p.Asp706Asn p.D706N ENST00000264659 NM_025248.2 706 Gac/Aac 0 -SRCRB4D UCSF GRCh37 7 76027005 76027005 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 25 46 0 ENST00000275560.3:c.698G>A p.Gly233Glu p.G233E ENST00000275560 NM_080744.1 233 gGg/gAg 0 -SREBF1 UCSF GRCh37 17 17723659 17723659 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 31 82 0 ENST00000261646.5:c.268C>T p.Pro90Ser p.P90S ENST00000261646 NM_004176.4 90 Ccg/Tcg 0 -SREBF1 UCSF GRCh37 17 17723768 17723768 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 32 81 0 ENST00000261646.5:c.159G>A p.Gly53= p.G53= ENST00000261646 NM_004176.4 53 ggG/ggA 0 -SRGAP1 UCSF GRCh37 12 64536263 64536263 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 23 97 187 0 ENST00000355086.3:c.3069G>A p.Gln1023= p.Q1023= ENST00000355086 NM_020762.2 1023 caG/caA 0 -SRGAP3 UCSF GRCh37 3 9097938 9097938 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 234 62 161 0 ENST00000383836.3:c.1104C>T p.Thr368= p.T368= ENST00000383836 NM_014850.3 368 acC/acT 0 -SRGAP3 UCSF GRCh37 3 9099983 9099983 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 294 79 179 0 ENST00000383836.3:c.975C>T p.Val325= p.V325= ENST00000383836 NM_014850.3 325 gtC/gtT 0 -SRL UCSF GRCh37 16 4247852 4247852 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 128 57 144 0 ENST00000399609.3:c.324C>T p.Thr108= p.T108= ENST00000399609 NM_001098814.1 108 acC/acT 0 -SRRM2 UCSF GRCh37 16 2813421 2813421 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 347 120 279 0 ENST00000301740.8:c.2892G>A p.Leu964= p.L964= ENST00000301740 NM_016333.3 964 ttG/ttA 0 -SRRM3 UCSF GRCh37 7 75914999 75914999 + 3_prime_UTR_variant 3'UTR SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 13 29 0 ENST00000326382.8:c.*6G>A *2* ENST00000326382 NM_001110199.1 0 -SSBP4 UCSF GRCh37 19 18542824 18542824 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 7 42 0 ENST00000270061.7:c.580G>A p.Gly194Ser p.G194S ENST00000270061 NM_032627.4 194 Ggc/Agc 0 -SSH3 UCSF GRCh37 11 67074528 67074528 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 46 74 0 ENST00000308127.4:c.480C>T p.Thr160= p.T160= ENST00000308127 NM_017857.3 160 acC/acT 0 -SSPO UCSF GRCh37 7 149504001 149504001 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 9 27 0 ENST00000378016.2:n.8825G>A *2942* ENST00000378016 0 -SSTR4 UCSF GRCh37 20 23017130 23017130 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 51 104 0 ENST00000255008.3:c.1010G>A p.Gly337Glu p.G337E ENST00000255008 NM_001052.2 337 gGa/gAa 0 -SSX1 UCSF GRCh37 X 48125757 48125757 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 178 195 0 ENST00000376919.3:c.502C>T p.Leu168= p.L168= ENST00000376919 NM_005635.3 168 Ctg/Ttg 0 -ST3GAL4 UCSF GRCh37 11 126277205 126277205 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 106 235 0 ENST00000392669.2:c.241C>T p.Pro81Ser p.P81S ENST00000392669 NM_001254758.1 81 Cca/Tca 0 -STAB1 UCSF GRCh37 3 52540864 52540864 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 27 38 0 ENST00000321725.6:c.1987G>A p.Ala663Thr p.A663T ENST00000321725 NM_015136.2 663 Gcg/Acg 0 -STAB1 UCSF GRCh37 3 52536691 52536691 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 39 73 0 ENST00000321725.6:c.531G>A p.Gly177= p.G177= ENST00000321725 NM_015136.2 177 ggG/ggA 0 -STAG3 UCSF GRCh37 7 99778250 99778250 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 198 127 286 0 ENST00000317296.5:c.71C>T p.Ala24Val p.A24V ENST00000317296 NM_012447.2 24 gCc/gTc 0 -STARD10 UCSF GRCh37 11 72470348 72470348 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 61 149 0 ENST00000334805.6:c.286G>A p.Asp96Asn p.D96N ENST00000334805 NM_006645.2 96 Gac/Aac 0 -STARD9 UCSF GRCh37 15 42930238 42930238 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 81 184 0 ENST00000290607.7:c.399G>A p.Arg133= p.R133= ENST00000290607 NM_020759.2 133 agG/agA 0 -STAT3 UCSF GRCh37 17 40475363 40475363 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 83 180 0 ENST00000264657.5:c.1663G>A p.Ala555Thr p.A555T ENST00000264657 NM_139276.2 555 Gct/Act 0 -STAT5B UCSF GRCh37 17 40354446 40354446 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 25 62 0 ENST00000293328.3:c.2149G>A p.Asp717Asn p.D717N ENST00000293328 NM_012448.3 717 Gat/Aat 0 -STIM1 UCSF GRCh37 11 4112853 4112853 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 62 158 0 ENST00000300737.4:c.1883C>T p.Ser628Phe p.S628F ENST00000300737 NM_003156.3 628 tCt/tTt 0 -STK11IP UCSF GRCh37 2 220471515 220471515 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 71 161 0 ENST00000295641.10:c.1102C>T p.Pro368Ser p.P368S ENST00000295641 NM_052902.2 368 Cct/Tct 0 -STK32A UCSF GRCh37 5 146763487 146763487 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 90 208 0 ENST00000397936.3:c.1132C>T p.Leu378= p.L378= ENST00000397936 NM_001112724.1 378 Cta/Tta 0 -STOML3 UCSF GRCh37 13 39541032 39541032 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 92 169 0 ENST00000379631.4:c.806C>T p.Pro269Leu p.P269L ENST00000379631 NM_145286.2 269 cCc/cTc 0 -STON1 UCSF GRCh37 2 48809625 48809625 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 76 180 0 ENST00000309835.3:c.1853C>T p.Thr618Ile p.T618I ENST00000309835 618 aCt/aTt 0 -STXBP5 UCSF GRCh37 6 147646219 147646219 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 45 128 0 ENST00000321680.6:c.1927C>T p.Leu643= p.L643= ENST00000321680 NM_001127715.2 643 Ctg/Ttg 0 -SULT2A1 UCSF GRCh37 19 48387013 48387013 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 53 102 0 ENST00000222002.3:c.166C>T p.Leu56= p.L56= ENST00000222002 NM_003167.3 56 Ctg/Ttg 0 -SULT2B1 UCSF GRCh37 19 49100093 49100093 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 16 42 0 ENST00000201586.2:c.743C>T p.Ala248Val p.A248V ENST00000201586 NM_177973.1 248 gCc/gTc 0 -SVIL UCSF GRCh37 10 29756720 29756720 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 167 65 130 0 ENST00000355867.4:c.5928G>A p.Trp1976Ter p.W1976* ENST00000355867 NM_021738.2 1976 tgG/tgA 0 -SYCE1 UCSF GRCh37 10 135369349 135369349 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 50 110 0 ENST00000343131.5:c.654G>A p.Gly218= p.G218= ENST00000343131 NM_001143764.1 218 ggG/ggA 0 -SYCE2 UCSF GRCh37 19 13011406 13011406 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 126 89 193 0 ENST00000293695.7:c.363C>T p.His121= p.H121= ENST00000293695 NM_001105578.1 121 caC/caT 0 -SYNE1 UCSF GRCh37 6 152603061 152603061 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 60 47 116 0 ENST00000367255.5:c.18262T>C p.Tyr6088His p.Y6088H ENST00000367255 NM_182961.3 6088 Tat/Cat 0 -SYNE1 UCSF GRCh37 6 152545661 152545661 + stop_gained Nonsense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 71 205 0 ENST00000367255.5:c.21490G>T p.Glu7164Ter p.E7164* ENST00000367255 NM_182961.3 7164 Gaa/Taa 0 -SYNE2 UCSF GRCh37 14 64469624 64469624 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 86 186 0 ENST00000344113.4:c.3973C>T p.Leu1325= p.L1325= ENST00000344113 NM_015180.4 1325 Ctg/Ttg 0 -SYNGAP1 UCSF GRCh37 6 33412273 33412273 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 52 137 0 ENST00000418600.2:c.3461C>T p.Thr1154Ile p.T1154I ENST00000418600 NM_006772.2 1154 aCa/aTa 0 -SYNGR3 UCSF GRCh37 16 2042036 2042036 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 3 13 0 ENST00000248121.2:c.161G>A p.Gly54Asp p.G54D ENST00000248121 NM_004209.5 54 gGc/gAc 0 -SYNJ1 UCSF GRCh37 21 34038826 34038826 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 182 102 243 0 ENST00000433931.2:c.1986C>T p.Asn662= p.N662= ENST00000433931 NM_003895.3 662 aaC/aaT 0 -SYNJ2 UCSF GRCh37 6 158449942 158449942 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 80 50 160 0 ENST00000355585.4:c.369C>T p.Ile123= p.I123= ENST00000355585 NM_001178088.1 123 atC/atT 0 -SYT11 UCSF GRCh37 1 155838193 155838193 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 107 215 0 ENST00000368324.4:c.472C>T p.Leu158= p.L158= ENST00000368324 NM_152280.4 158 Cta/Tta 0 -SYT12 UCSF GRCh37 11 66816106 66816106 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 42 66 0 ENST00000393946.2:c.1144G>A p.Asp382Asn p.D382N ENST00000393946 382 Gac/Aac 0 -SYT3 UCSF GRCh37 19 51132555 51132555 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 16 32 0 ENST00000338916.4:c.1277G>A p.Gly426Asp p.G426D ENST00000338916 NM_032298.2 426 gGc/gAc 0 -SZT2 UCSF GRCh37 1 43907023 43907023 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 85 196 0 ENST00000562955.1:c.7312G>A p.Gly2438Ser p.G2438S ENST00000562955 NM_015284.3 2438 Ggc/Agc 0 -T UCSF GRCh37 6 166580152 166580152 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 59 150 0 ENST00000296946.2:c.399G>A p.Gly133= p.G133= ENST00000296946 NM_003181.3 133 ggG/ggA 0 -TAB3 UCSF GRCh37 X 30873508 30873508 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 4 33 43 0 ENST00000378933.1:c.274C>T p.Leu92Phe p.L92F ENST00000378933 NM_152787.3 92 Ctt/Ttt 0 -TACC2 UCSF GRCh37 10 123843783 123843783 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 47 120 0 ENST00000334433.3:c.1768G>A p.Asp590Asn p.D590N ENST00000334433 590 Gac/Aac 0 -TADA2A UCSF GRCh37 17 35802719 35802719 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 38 113 0 ENST00000394395.2:c.497C>T p.Ala166Val p.A166V ENST00000394395 NM_001166105.1 166 gCc/gTc 0 -TAF11 UCSF GRCh37 6 34846481 34846481 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 60 147 0 ENST00000361288.4:c.522G>A p.Glu174= p.E174= ENST00000361288 NM_005643.3 174 gaG/gaA 0 -TAF1L UCSF GRCh37 9 32635537 32635537 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 55 131 0 ENST00000242310.4:c.41C>T p.Thr14Ile p.T14I ENST00000242310 NM_153809.2 14 aCc/aTc 0 -TAF4B UCSF GRCh37 18 23866446 23866446 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 93 185 0 ENST00000269142.5:c.1573G>A p.Val525Ile p.V525I ENST00000269142 NM_005640.1 525 Gtt/Att 0 -TAGLN UCSF GRCh37 11 117074071 117074071 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 67 156 0 ENST00000278968.6:c.229G>A p.Val77Met p.V77M ENST00000278968 NM_001001522.1 77 Gtg/Atg 0 -TANK UCSF GRCh37 2 162061305 162061305 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 50 137 0 ENST00000259075.2:c.327+1G>A p.X109_splice ENST00000259075 NM_004180.2 0 -TAOK1 UCSF GRCh37 17 27857551 27857551 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 94 197 0 ENST00000261716.3:c.2275C>T p.Arg759Trp p.R759W ENST00000261716 NM_020791.2 759 Cgg/Tgg 0 -TAOK3 UCSF GRCh37 12 118639265 118639265 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 54 121 0 ENST00000392533.3:c.823G>A p.Asp275Asn p.D275N ENST00000392533 NM_016281.3 275 Gac/Aac 0 -TARDBP UCSF GRCh37 1 11082189 11082189 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 86 154 0 ENST00000240185.3:c.723G>A p.Gln241= p.Q241= ENST00000240185 NM_007375.3 241 caG/caA 0 -TAS2R20 UCSF GRCh37 12 11149806 11149806 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 185 155 326 0 ENST00000538986.1:c.669C>T p.Ile223= p.I223= ENST00000538986 NM_176889.2 223 atC/atT 0 -TASP1 UCSF GRCh37 20 13539702 13539702 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 85 180 0 ENST00000337743.4:c.628G>A p.Asp210Asn p.D210N ENST00000337743 NM_017714.2 210 Gac/Aac 0 -TBC1D10A UCSF GRCh37 22 30700641 30700641 + intron_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 18 33 96 0 ENST00000215790.7:c.210-22G>A *70* ENST00000215790 NM_031937.2 0 -TBC1D14 UCSF GRCh37 4 6925299 6925299 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 59 144 0 ENST00000409757.4:c.183C>T p.Leu61= p.L61= ENST00000409757 NM_020773.2 61 ctC/ctT 0 -TBC1D16 UCSF GRCh37 17 77984396 77984396 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 5 21 0 ENST00000310924.2:c.342G>A p.Arg114= p.R114= ENST00000310924 NM_019020.3 114 cgG/cgA 0 -TBC1D19 UCSF GRCh37 4 26585897 26585897 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 13 32 0 ENST00000264866.4:c.82C>T p.Leu28= p.L28= ENST00000264866 NM_018317.2 28 Ctg/Ttg 0 -TBC1D30 UCSF GRCh37 12 65230282 65230282 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 41 114 0 ENST00000539867.1:c.607C>T p.Leu203Phe p.L203F ENST00000539867 NM_015279.1 203 Ctt/Ttt 0 -TBC1D4 UCSF GRCh37 13 75866342 75866342 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 71 131 0 ENST00000377636.3:c.3382G>A p.Glu1128Lys p.E1128K ENST00000377636 NM_014832.2 1128 Gag/Aag 0 -TBC1D4 UCSF GRCh37 13 75894149 75894149 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 30 94 0 ENST00000377636.3:c.2222+1G>A p.X741_splice ENST00000377636 NM_014832.2 0 -TBC1D8 UCSF GRCh37 2 101648800 101648800 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 91 140 0 ENST00000376840.4:c.1821G>A p.Glu607= p.E607= ENST00000376840 607 gaG/gaA 0 -TBCCD1 UCSF GRCh37 3 186272541 186272541 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 50 96 0 ENST00000338733.5:c.1047-1G>A p.X349_splice ENST00000338733 NM_018138.3 0 -TBCD UCSF GRCh37 17 80739489 80739489 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 138 88 206 0 ENST00000355528.4:c.663G>A p.Lys221= p.K221= ENST00000355528 NM_005993.4 221 aaG/aaA 0 -TBX15 UCSF GRCh37 1 119474318 119474318 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 42 110 0 ENST00000369429.3:c.343G>A p.Val115Met p.V115M ENST00000369429 115 Gtg/Atg 0 -TBX5 UCSF GRCh37 12 114804055 114804055 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 83 142 0 ENST00000310346.4:c.897C>T p.Gly299= p.G299= ENST00000310346 NM_000192.3 299 ggC/ggT 0 -TBXAS1 UCSF GRCh37 7 139657524 139657524 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 68 141 0 ENST00000336425.5:c.780G>A p.Arg260= p.R260= ENST00000336425 260 agG/agA 0 -TCEAL5 UCSF GRCh37 X 102529174 102529174 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 123 137 0 ENST00000372680.1:c.318C>T p.Arg106= p.R106= ENST00000372680 NM_001012979.2 106 cgC/cgT 0 -TCEB3B UCSF GRCh37 18 44561448 44561448 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 32 87 0 ENST00000332567.4:c.188G>A p.Gly63Asp p.G63D ENST00000332567 NM_016427.2 63 gGc/gAc 0 -TCERG1 UCSF GRCh37 5 145838501 145838501 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 96 205 0 ENST00000296702.5:c.493G>A p.Val165Ile p.V165I ENST00000296702 NM_006706.3 165 Gtt/Att 0 -TCF25 UCSF GRCh37 16 89958648 89958648 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 23 46 0 ENST00000263346.8:c.662C>T p.Thr221Ile p.T221I ENST00000263346 NM_014972.2 221 aCc/aTc 0 -TCHH UCSF GRCh37 1 152084192 152084192 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 27 164 0 ENST00000368804.1:c.1501G>A p.Glu501Lys p.E501K ENST00000368804 NM_007113.3 501 Gag/Aag 0 -TCHH UCSF GRCh37 1 152084210 152084210 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 124 16 163 0 ENST00000368804.1:c.1483G>A p.Glu495Lys p.E495K ENST00000368804 NM_007113.3 495 Gag/Aag 0 -TCHH UCSF GRCh37 1 152084193 152084194 + inframe_insertion In_Frame_Ins INS - - CTGCTGCTCGCGCCTCTT NOVEL P18_Rec Untested WXS Illumina HiSeq 10 0 ENST00000368804.1:c.1499_1500insAAGAGGCGCGAGCAGCAG p.Gln500_Glu501insArgGlyAlaSerSerArg p.Q500_E501insRGASSR ENST00000368804 NM_007113.3 500 cag/caAAGAGGCGCGAGCAGCAGg 0 -TCP10L2 UCSF GRCh37 6 167592009 167592009 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 350 75 415 0 ENST00000366832.2:c.636G>A p.Arg212= p.R212= ENST00000366832 NM_001145121.1 212 cgG/cgA 0 -TCTN1 UCSF GRCh37 12 111078207 111078207 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 65 105 0 ENST00000551590.1:c.863C>T p.Ser288Phe p.S288F ENST00000551590 288 tCc/tTc 0 -TDRD1 UCSF GRCh37 10 115991270 115991270 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 41 100 0 ENST00000251864.2:c.3564C>T p.Pro1188= p.P1188= ENST00000251864 NM_198795.1 1188 ccC/ccT 0 -TDRD9 UCSF GRCh37 14 104472730 104472730 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 174 119 284 0 ENST00000409874.4:c.1718G>A p.Gly573Glu p.G573E ENST00000409874 NM_153046.2 573 gGa/gAa 0 -TDRD9 UCSF GRCh37 14 104482389 104482389 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 58 123 0 ENST00000409874.4:c.2295G>A p.Arg765= p.R765= ENST00000409874 NM_153046.2 765 agG/agA 0 -TEC 7006 UCSF GRCh37 4 48147290 48147290 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 112 67 145 0 ENST00000381501.3:c.1276G>A p.Val426Met p.V426M ENST00000381501 NM_003215.2 426 Gtg/Atg 0 -TECTA UCSF GRCh37 11 120989349 120989349 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 121 105 195 0 ENST00000264037.2:c.1125C>T p.Val375= p.V375= ENST00000264037 NM_005422.2 375 gtC/gtT 0 -TECTA UCSF GRCh37 11 120996226 120996226 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 136 109 214 0 ENST00000264037.2:c.1419C>T p.Leu473= p.L473= ENST00000264037 NM_005422.2 473 ctC/ctT 0 -TERF1 UCSF GRCh37 8 73958219 73958219 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 147 93 206 0 ENST00000276603.5:c.1167G>A p.Lys389= p.K389= ENST00000276603 NM_017489.2 389 aaG/aaA 0 -TEX11 UCSF GRCh37 X 70080787 70080787 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 49 55 0 ENST00000344304.3:c.290-1G>A p.X97_splice ENST00000344304 0 -TEX19 UCSF GRCh37 17 80320513 80320513 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 53 126 0 ENST00000333437.4:c.487C>T p.Pro163Ser p.P163S ENST00000333437 NM_207459.3 163 Cct/Tct 0 -TFAM UCSF GRCh37 10 60146021 60146021 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 122 88 182 0 ENST00000487519.1:c.143G>A p.Ser48Asn p.S48N ENST00000487519 NM_003201.2 48 aGt/aAt 0 -TFF2 UCSF GRCh37 21 43771060 43771060 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.006,1000g2011may_all_0.0182,snp132_rs7277409 P18_Rec Untested WXS Illumina HiSeq 34 37 64 0 ENST00000291526.4:c.7C>T p.Arg3Trp p.R3W ENST00000291526 NM_005423.4 3 Cgg/Tgg 0 -TFR2 UCSF GRCh37 7 100229785 100229785 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 56 167 0 ENST00000223051.3:c.886C>T p.Leu296Phe p.L296F ENST00000223051 NM_003227.3 296 Ctc/Ttc 0 -TGFBR2 UCSF GRCh37 3 30713734 30713734 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 122 104 208 0 ENST00000295754.5:c.1059C>T p.Ser353= p.S353= ENST00000295754 NM_003242.5 353 tcC/tcT 0 -TGM3 UCSF GRCh37 20 2293603 2293603 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 128 118 205 0 ENST00000381458.5:c.600C>T p.Arg200= p.R200= ENST00000381458 NM_003245.3 200 cgC/cgT 0 -TH1L UCSF GRCh37 20 57564990 57564990 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 49 90 0 ENST00000602795.1:c.789G>A p.Gly263= p.G263= ENST00000602795 NM_198976.2 263 ggG/ggA 0 -THBS3 UCSF GRCh37 1 155170289 155170289 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 142 116 224 0 ENST00000368378.3:c.1661A>G p.Asp554Gly p.D554G ENST00000368378 NM_007112.4 554 gAt/gGt 0 -THBS3 UCSF GRCh37 1 155171292 155171292 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 58 90 0 ENST00000368378.3:c.1245C>T p.Ala415= p.A415= ENST00000368378 NM_007112.4 415 gcC/gcT 0 -THOC5 UCSF GRCh37 22 29916062 29916062 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 38 98 0 ENST00000397871.1:c.1309C>T p.Leu437= p.L437= ENST00000397871 NM_001002879.1 437 Cta/Tta 0 -THSD7B UCSF GRCh37 2 138030196 138030196 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 111 237 0 ENST00000272643.3:c.2360G>A p.Arg787Lys p.R787K ENST00000272643 787 aGa/aAa 0 -THUMPD3 UCSF GRCh37 3 9408637 9408637 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 299 63 170 0 ENST00000345094.3:c.298G>A p.Glu100Lys p.E100K ENST00000345094 NM_001114092.1 100 Gag/Aag 0 -TIE1 UCSF GRCh37 1 43772556 43772556 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 57 113 0 ENST00000372476.3:c.530G>A p.Arg177Gln p.R177Q ENST00000372476 NM_005424.4 177 cGg/cAg 0 -TIGIT UCSF GRCh37 3 114026946 114026946 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 168 105 271 0 ENST00000383671.3:c.703G>A p.Gly235Ser p.G235S ENST00000383671 NM_173799.3 235 Ggt/Agt 0 -TIMM50 UCSF GRCh37 19 39971203 39971203 + upstream_gene_variant 5'Flank SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 61 134 0 ENST00000607714 0 -TIMP1 UCSF GRCh37 X 47442895 47442895 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 11 70 68 0 ENST00000218388.4:c.81C>T p.Val27= p.V27= ENST00000218388 NM_003254.2 27 gtC/gtT 0 -TINAG UCSF GRCh37 6 54173386 54173386 + missense_variant Missense_Mutation SNP T T G NOVEL P18_Rec Untested WXS Illumina HiSeq 58 29 73 0 ENST00000259782.4:c.38T>G p.Leu13Arg p.L13R ENST00000259782 NM_014464.3 13 cTt/cGt 0 -TINAGL1 UCSF GRCh37 1 32050857 32050857 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 97 164 0 ENST00000271064.7:c.963C>T p.Arg321= p.R321= ENST00000271064 NM_022164.2 321 cgC/cgT 0 -TJP3 UCSF GRCh37 19 3738640 3738640 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Rec Untested WXS Illumina HiSeq 64 44 79 0 ENST00000541714.2:c.1372G>C p.Val458Leu p.V458L ENST00000541714 NM_001267560.1 458 Gtg/Ctg 0 -TKT UCSF GRCh37 3 53265544 53265544 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 43 107 0 ENST00000423525.2:c.771G>A p.Trp257Ter p.W257* ENST00000423525 NM_001135055.2 257 tgG/tgA 0 -TLE3 UCSF GRCh37 15 70347554 70347554 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 63 127 0 ENST00000558939.1:c.1421C>T p.Pro474Leu p.P474L ENST00000558939 NM_001282979.1 474 cCg/cTg 0 -TLE6 UCSF GRCh37 19 2989107 2989107 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 47 124 0 ENST00000246112.4:c.789C>T p.Ala263= p.A263= ENST00000246112 NM_001143986.1 263 gcC/gcT 0 -TLN2 UCSF GRCh37 15 63125806 63125806 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 23 70 178 0 ENST00000306829.6:c.7106G>A p.Arg2369Lys p.R2369K ENST00000306829 NM_015059.2 2369 aGg/aAg 0 -TM9SF4 UCSF GRCh37 20 30737484 30737484 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 50 63 0 ENST00000398022.2:c.1002C>T p.Val334= p.V334= ENST00000398022 NM_014742.3 334 gtC/gtT 0 -TMBIM4 UCSF GRCh37 12 66539731 66539731 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 55 135 0 ENST00000358230.3:c.354C>T p.Phe118= p.F118= ENST00000358230 NM_016056.2 118 ttC/ttT 0 -TMC8 UCSF GRCh37 17 76134223 76134223 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 50 105 0 ENST00000318430.5:c.1487C>T p.Pro496Leu p.P496L ENST00000318430 NM_152468.4 496 cCc/cTc 0 -TMEM109 UCSF GRCh37 11 60687263 60687263 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 136 112 202 0 ENST00000227525.3:c.98C>T p.Ala33Val p.A33V ENST00000227525 NM_024092.2 33 gCc/gTc 0 -TMEM115 UCSF GRCh37 3 50395655 50395655 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.00097 P18_Rec Untested WXS Illumina HiSeq 111 89 165 0 ENST00000266025.3:c.840C>T p.Ala280= p.A280= ENST00000266025 NM_007024.4 280 gcC/gcT 0 -TMEM131 UCSF GRCh37 2 98409175 98409175 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 68 158 0 ENST00000186436.5:c.3818G>A p.Gly1273Asp p.G1273D ENST00000186436 NM_015348.1 1273 gGt/gAt 0 -TMEM132A UCSF GRCh37 11 60694802 60694802 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 72 54 135 0 ENST00000453848.2:c.227C>T p.Ser76Phe p.S76F ENST00000453848 76 tCc/tTc 0 -TMEM132C UCSF GRCh37 12 129178440 129178440 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 68 159 0 ENST00000435159.2:c.1516G>A p.Val506Met p.V506M ENST00000435159 NM_001136103.2 506 Gtg/Atg 0 -TMEM143 UCSF GRCh37 19 48845943 48845943 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 41 37 76 0 ENST00000293261.3:c.819G>A p.Thr273= p.T273= ENST00000293261 NM_018273.2 273 acG/acA 0 -TMEM151B UCSF GRCh37 6 44243428 44243428 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 4 17 0 ENST00000451188.2:c.865G>A p.Asp289Asn p.D289N ENST00000451188 NM_001137560.1 289 Gac/Aac 0 -TMEM164 UCSF GRCh37 X 109247135 109247135 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 82 93 0 ENST00000372068.2:c.133G>A p.Val45Ile p.V45I ENST00000372068 NM_032227.3 45 Gtc/Atc 0 -TMEM165 UCSF GRCh37 4 56290810 56290810 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 53 40 97 0 ENST00000381334.5:c.898G>A p.Val300Met p.V300M ENST00000381334 NM_018475.4 300 Gtg/Atg 0 -TMEM173 UCSF GRCh37 5 138858022 138858022 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 111 111 246 0 ENST00000330794.4:c.592C>T p.Leu198= p.L198= ENST00000330794 NM_198282.2 198 Ctg/Ttg 0 -TMEM176A UCSF GRCh37 7 150501561 150501561 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 51 121 0 ENST00000004103.3:c.666+1G>A p.X222_splice ENST00000004103 NM_018487.2 0 -TMEM177 UCSF GRCh37 2 120439314 120439314 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 45 156 0 ENST00000272521.6:c.885G>A p.Arg295= p.R295= ENST00000272521 NM_030577.2 295 cgG/cgA 0 -TMEM181 UCSF GRCh37 6 158957729 158957729 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 9 19 0 ENST00000367090.3:c.251G>A p.Gly84Asp p.G84D ENST00000367090 NM_020823.1 84 gGt/gAt 0 -TMEM207 UCSF GRCh37 3 190167548 190167548 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 66 139 0 ENST00000354905.2:c.51G>A p.Gly17= p.G17= ENST00000354905 NM_207316.1 17 ggG/ggA 0 -TMEM209 UCSF GRCh37 7 129841783 129841783 + synonymous_variant Silent SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 240 99 216 0 ENST00000397622.2:c.480T>C p.Thr160= p.T160= ENST00000397622 NM_032842.3 160 acT/acC 0 -TMEM214 UCSF GRCh37 2 27258058 27258058 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 51 99 0 ENST00000238788.9:c.407G>A p.Gly136Glu p.G136E ENST00000238788 NM_017727.4 136 gGa/gAa 0 -TMEM38A UCSF GRCh37 19 16791263 16791263 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 199 139 310 0 ENST00000187762.2:c.337C>T p.Pro113Ser p.P113S ENST00000187762 NM_024074.1 113 Cct/Tct 0 -TMEM39A UCSF GRCh37 3 119156784 119156784 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 59 141 0 ENST00000319172.5:c.742C>T p.Leu248= p.L248= ENST00000319172 NM_018266.2 248 Cta/Tta 0 -TMEM44 UCSF GRCh37 3 194343978 194343978 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 40 102 0 ENST00000392432.2:c.587C>T p.Ser196Phe p.S196F ENST00000392432 NM_001166305.1 196 tCt/tTt 0 -TMEM63B UCSF GRCh37 6 44117599 44117599 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 16 21 0 ENST00000259746.9:c.1417C>T p.Pro473Ser p.P473S ENST00000259746 473 Ccc/Tcc 0 -TMEM63C UCSF GRCh37 14 77705765 77705765 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 37 70 0 ENST00000298351.4:c.736C>T p.Pro246Ser p.P246S ENST00000298351 NM_020431.2 246 Cca/Tca 0 -TMEM85 UCSF GRCh37 15 34520724 34520724 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 213 152 310 0 ENST00000267750.4:c.450G>A p.Lys150= p.K150= ENST00000267750 NM_016454.2 150 aaG/aaA 0 -TMF1 UCSF GRCh37 3 69092917 69092917 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 70 135 0 ENST00000398559.2:c.1562G>A p.Arg521Lys p.R521K ENST00000398559 521 aGa/aAa 0 -TMPRSS11A UCSF GRCh37 4 68795751 68795751 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 77 189 0 ENST00000334830.7:c.337G>A p.Glu113Lys p.E113K ENST00000334830 113 Gaa/Aaa 0 -TMPRSS11D UCSF GRCh37 4 68688127 68688127 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 127 92 226 0 ENST00000283916.6:c.1185G>A p.Leu395= p.L395= ENST00000283916 NM_004262.2 395 ctG/ctA 0 -TMPRSS13 UCSF GRCh37 11 117784494 117784494 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 55 119 0 ENST00000524993.1:c.807G>A p.Glu269= p.E269= ENST00000524993 NM_001077263.2 269 gaG/gaA 0 -TMPRSS15 UCSF GRCh37 21 19732166 19732166 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Rec Untested WXS Illumina HiSeq 125 85 154 0 ENST00000284885.3:c.788T>A p.Leu263His p.L263H ENST00000284885 NM_002772.2 263 cTt/cAt 0 -TMPRSS3 UCSF GRCh37 21 43796669 43796669 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 53 98 0 ENST00000291532.3:c.1175G>A p.Gly392Asp p.G392D ENST00000291532 NM_032404.2 392 gGt/gAt 0 -TNFAIP1 UCSF GRCh37 17 26669339 26669339 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 42 34 80 0 ENST00000226225.2:c.585C>T p.Gly195= p.G195= ENST00000226225 NM_021137.4 195 ggC/ggT 0 -TNFAIP8L3 UCSF GRCh37 15 51350625 51350625 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 33 80 0 ENST00000327536.5:c.332G>A p.Ser111Asn p.S111N ENST00000327536 NM_207381.2 111 aGt/aAt 0 -TNFRSF10B UCSF GRCh37 8 22926275 22926275 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 14 22 0 ENST00000276431.4:c.133G>A p.Val45Ile p.V45I ENST00000276431 NM_147187.2 45 Gtc/Atc 0 -TNFRSF13C UCSF GRCh37 22 42322114 42322114 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 13 30 0 ENST00000291232.3:c.358G>A p.Asp120Asn p.D120N ENST00000291232 NM_052945.3 120 Gac/Aac 0 -TNFRSF4 UCSF GRCh37 1 1147450 1147450 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 15 9 18 0 ENST00000379236.3:c.506G>A p.Arg169Lys p.R169K ENST00000379236 NM_003327.3 169 aGg/aAg 0 -TNK1 UCSF GRCh37 17 7290413 7290413 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 31 49 0 ENST00000576812.1:c.1352C>T p.Thr451Ile p.T451I ENST00000576812 NM_001251902.1 451 aCc/aTc 0 -TNK2 UCSF GRCh37 3 195608963 195608963 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 48 120 0 ENST00000333602.6:c.846C>T p.Asp282= p.D282= ENST00000333602 NM_005781.4 282 gaC/gaT 0 -TNNI1 UCSF GRCh37 1 201383683 201383683 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 16 33 0 ENST00000336092.4:c.152C>T p.Thr51Met p.T51M ENST00000336092 51 aCg/aTg 0 -TNNI3 UCSF GRCh37 19 55665468 55665468 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 69 129 0 ENST00000344887.5:c.479G>A p.Gly160Glu p.G160E ENST00000344887 NM_000363.4 160 gGg/gAg 0 -TNRC18 UCSF GRCh37 7 5353477 5353477 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 28 52 0 ENST00000430969.1:c.7045G>A p.Glu2349Lys p.E2349K ENST00000430969 NM_001080495.2 2349 Gag/Aag 0 -TNRC18 UCSF GRCh37 7 5410939 5410939 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 7 12 26 0 ENST00000430969.1:c.3286C>T p.Pro1096Ser p.P1096S ENST00000430969 NM_001080495.2 1096 Cct/Tct 0 -TNXB UCSF GRCh37 6 32065707 32065707 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 53 105 0 ENST00000375244.3:c.269G>A p.Gly90Asp p.G90D ENST00000375244 90 gGc/gAc 0 -TOB1 UCSF GRCh37 17 48941018 48941018 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 71 171 0 ENST00000268957.3:c.361G>A p.Gly121Arg p.G121R ENST00000268957 NM_001243877.1 121 Gga/Aga 0 -TOM1 UCSF GRCh37 22 35713897 35713897 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 62 133 0 ENST00000449058.2:c.80G>A p.Ser27Asn p.S27N ENST00000449058 NM_005488.2 27 aGc/aAc 0 -TONSL UCSF GRCh37 8 145659615 145659615 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 9 23 0 ENST00000409379.3:c.3133C>T p.Leu1045Phe p.L1045F ENST00000409379 NM_013432.4 1045 Ctc/Ttc 0 -TOP1 UCSF GRCh37 20 39741529 39741529 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 55 126 0 ENST00000361337.2:c.1416C>T p.Val472= p.V472= ENST00000361337 NM_003286.2 472 gtC/gtT 0 -TOP2A UCSF GRCh37 17 38563110 38563110 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 128 231 0 ENST00000423485.1:c.1711G>A p.Glu571Lys p.E571K ENST00000423485 NM_001067.3 571 Gag/Aag 0 -TOP2B UCSF GRCh37 3 25670612 25670612 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 179 115 250 0 ENST00000264331.4:c.1714G>A p.Gly572Ser p.G572S ENST00000264331 572 Ggc/Agc 0 -TOR1AIP2 UCSF GRCh37 1 179820072 179820072 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 79 200 0 ENST00000367612.3:c.461C>T p.Pro154Leu p.P154L ENST00000367612 NM_145034.4 154 cCt/cTt 0 -TOR1B UCSF GRCh37 9 132571237 132571237 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 62 67 161 0 ENST00000259339.2:c.695G>A p.Gly232Glu p.G232E ENST00000259339 NM_014506.1 232 gGa/gAa 0 -TOR2A UCSF GRCh37 9 130495599 130495599 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 57 133 0 ENST00000373284.5:c.593+65C>T *198* ENST00000373284 NM_001085347.2 0 -TP53 UCSF GRCh37 17 7578242 7578242 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 69 41 111 0 ENST00000269305.4:c.607G>A p.Val203Met p.V203M ENST00000269305 NM_001126112.2 203 Gtg/Atg 0 -TP53 UCSF GRCh37 17 7577572 7577572 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 18 61 78 0 ENST00000269305.4:c.709A>G p.Met237Val p.M237V ENST00000269305 NM_001126112.2 237 Atg/Gtg 0 -TPR UCSF GRCh37 1 186287932 186287932 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 74 190 0 ENST00000367478.4:c.6597C>T p.Phe2199= p.F2199= ENST00000367478 NM_003292.2 2199 ttC/ttT 0 -TRAF3IP1 UCSF GRCh37 2 239242654 239242654 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 31 69 0 ENST00000373327.4:c.1041G>A p.Arg347= p.R347= ENST00000373327 NM_015650.3 347 cgG/cgA 0 -TRAF3IP3 UCSF GRCh37 1 209936207 209936207 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 142 71 196 0 ENST00000367024.1:c.543G>A p.Gln181= p.Q181= ENST00000367024 181 caG/caA 0 -TRAFD1 UCSF GRCh37 12 112585941 112585941 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 60 112 0 ENST00000257604.5:c.991G>A p.Val331Met p.V331M ENST00000257604 NM_001143906.1 331 Gtg/Atg 0 -TRANK1 UCSF GRCh37 3 36896976 36896976 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 198 148 338 0 ENST00000429976.2:c.4105G>A p.Val1369Ile p.V1369I ENST00000429976 1369 Gtt/Att 0 -TRAPPC10 UCSF GRCh37 21 45506703 45506703 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 74 156 0 ENST00000291574.4:c.2401C>T p.Pro801Ser p.P801S ENST00000291574 NM_003274.4 801 Cct/Tct 0 -TREX1 UCSF GRCh37 3 48508814 48508814 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 81 157 0 ENST00000422277.2:c.925C>T p.Leu309= p.L309= ENST00000422277 NM_016381.4 309 Ctg/Ttg 0 -TRIM29 UCSF GRCh37 11 120008683 120008683 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 36 23 70 0 ENST00000341846.5:c.57C>T p.Ala19= p.A19= ENST00000341846 NM_012101.3 19 gcC/gcT 0 -TRIM33 UCSF GRCh37 1 114940462 114940462 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 167 135 246 0 ENST00000358465.2:c.3192G>A p.Gln1064= p.Q1064= ENST00000358465 NM_015906.3 1064 caG/caA 0 -TRIM43B UCSF GRCh37 2 96147415 96147415 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 51 162 0 ENST00000454263.2:n.565G>A *189* ENST00000454263 0 -TRIM45 UCSF GRCh37 1 117663495 117663495 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 66 112 0 ENST00000256649.4:c.329C>T p.Ala110Val p.A110V ENST00000256649 NM_025188.3 110 gCt/gTt 0 -TRIM47 UCSF GRCh37 17 73872525 73872525 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 15 40 0 ENST00000254816.2:c.820G>A p.Ala274Thr p.A274T ENST00000254816 NM_033452.2 274 Gct/Act 0 -TRIM50 UCSF GRCh37 7 72738554 72738554 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 58 123 0 ENST00000333149.2:c.232C>T p.Leu78= p.L78= ENST00000333149 NM_001281450.1 78 Ctg/Ttg 0 -TRIM52 UCSF GRCh37 5 180687399 180687399 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Rec Untested WXS Illumina HiSeq 159 107 224 0 ENST00000327767.4:c.416T>G p.Leu139Trp p.L139W ENST00000327767 NM_032765.2 139 tTg/tGg 0 -TRIM52 UCSF GRCh37 5 180687407 180687407 + synonymous_variant Silent SNP T T G NOVEL P18_Rec Untested WXS Illumina HiSeq 147 106 231 0 ENST00000327767.4:c.408A>C p.Leu136= p.L136= ENST00000327767 NM_032765.2 136 ctA/ctC 0 -TRIM55 UCSF GRCh37 8 67086798 67086798 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 179 112 235 0 ENST00000315962.4:c.1617C>T p.Ser539= p.S539= ENST00000315962 NM_184085.1 539 tcC/tcT 0 -TRIM71 UCSF GRCh37 3 32933098 32933098 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 81 145 0 ENST00000383763.5:c.2402C>T p.Ala801Val p.A801V ENST00000383763 NM_001039111.1 801 gCt/gTt 0 -TRIM71 UCSF GRCh37 3 32932469 32932469 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 45 95 0 ENST00000383763.5:c.1773C>T p.Leu591= p.L591= ENST00000383763 NM_001039111.1 591 ctC/ctT 0 -TRIM77P UCSF GRCh37 11 89443679 89443679 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 90 211 0 ENST00000398290.3:c.213G>A p.Glu71= p.E71= ENST00000398290 NM_001146162.1 71 gaG/gaA 0 -TRIM9 UCSF GRCh37 14 51446261 51446261 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 166 105 231 0 ENST00000298355.3:c.1914G>A p.Glu638= p.E638= ENST00000298355 NM_015163.5 638 gaG/gaA 0 -TRIM9 UCSF GRCh37 14 51448685 51448685 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 84 144 0 ENST00000298355.3:c.1740C>T p.Tyr580= p.Y580= ENST00000298355 NM_015163.5 580 taC/taT 0 -TRIO UCSF GRCh37 5 14368834 14368834 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 81 162 0 ENST00000344204.4:c.2892G>A p.Ala964= p.A964= ENST00000344204 NM_007118.2 964 gcG/gcA 0 -TRIP11 UCSF GRCh37 14 92482083 92482083 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 66 154 0 ENST00000267622.4:c.780C>T p.Asp260= p.D260= ENST00000267622 NM_004239.3 260 gaC/gaT 0 -TRMT5 UCSF GRCh37 14 61441857 61441857 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0014 P18_Rec Untested WXS Illumina HiSeq 71 49 98 0 ENST00000261249.6:c.1500C>T p.Asp500= p.D500= ENST00000261249 NM_020810.2 500 gaC/gaT 0 -TRPA1 UCSF GRCh37 8 72968057 72968057 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 64 116 0 ENST00000262209.4:c.1228G>A p.Asp410Asn p.D410N ENST00000262209 NM_007332.2 410 Gac/Aac 0 -TRPC4AP UCSF GRCh37 20 33600840 33600840 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 121 74 184 0 ENST00000252015.2:c.1380G>A p.Arg460= p.R460= ENST00000252015 460 agG/agA 0 -TRPM2 UCSF GRCh37 21 45859007 45859007 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 36 72 0 ENST00000300482.5:c.4225G>A p.Glu1409Lys p.E1409K ENST00000300482 1409 Gag/Aag 0 -TRPM5 UCSF GRCh37 11 2441483 2441483 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 40 77 0 ENST00000155858.6:c.618G>A p.Lys206= p.K206= ENST00000155858 NM_014555.3 206 aaG/aaA 0 -TRPM6 UCSF GRCh37 9 77397347 77397347 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 85 176 0 ENST00000360774.1:c.3140C>T p.Pro1047Leu p.P1047L ENST00000360774 NM_017662.4 1047 cCa/cTa 0 -TRPS1 UCSF GRCh37 8 116616617 116616617 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 161 109 235 0 ENST00000220888.5:c.1540G>A p.Gly514Arg p.G514R ENST00000220888 514 Gga/Aga 0 -TRPV2 UCSF GRCh37 17 16330800 16330800 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 96 64 113 0 ENST00000338560.7:c.1289C>T p.Ser430Phe p.S430F ENST00000338560 NM_016113.4 430 tCc/tTc 0 -TRPV2 UCSF GRCh37 17 16330170 16330170 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 59 127 0 ENST00000338560.7:c.1230C>T p.Tyr410= p.Y410= ENST00000338560 NM_016113.4 410 taC/taT 0 -TRRAP UCSF GRCh37 7 98581887 98581887 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 368 118 397 0 ENST00000359863.4:c.9206C>T p.Thr3069Ile p.T3069I ENST00000359863 NM_001244580.1 3069 aCt/aTt 0 -TSC1 UCSF GRCh37 9 135772893 135772893 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 182 125 287 0 ENST00000298552.3:c.2730G>A p.Leu910= p.L910= ENST00000298552 NM_001162426.1 910 ttG/ttA 0 -TSEN2 UCSF GRCh37 3 12544891 12544891 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 110 88 179 0 ENST00000284995.6:c.439G>A p.Ala147Thr p.A147T ENST00000284995 NM_025265.3 147 Gct/Act 0 -TSHZ3 UCSF GRCh37 19 31768396 31768396 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 48 109 0 ENST00000240587.4:c.2303C>T p.Pro768Leu p.P768L ENST00000240587 NM_020856.2 768 cCc/cTc 0 -TSN UCSF GRCh37 2 122519079 122519079 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 197 154 307 0 ENST00000389682.3:c.352G>A p.Ala118Thr p.A118T ENST00000389682 NM_004622.2 118 Gca/Aca 0 -TSN UCSF GRCh37 2 122514836 122514836 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 50 122 0 ENST00000389682.3:c.87G>A p.Gln29= p.Q29= ENST00000389682 NM_004622.2 29 caG/caA 0 -TSPAN32 UCSF GRCh37 11 2325364 2325364 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 7 19 31 0 ENST00000182290.4:c.209G>A p.Gly70Asp p.G70D ENST00000182290 NM_139022.2 70 gGc/gAc 0 -TSPAN5 UCSF GRCh37 4 99579356 99579356 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 70 171 0 ENST00000305798.3:c.22G>A p.Gly8Ser p.G8S ENST00000305798 NM_005723.3 8 Ggt/Agt 0 -TSPYL2 UCSF GRCh37 X 53112481 53112481 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 47 54 0 ENST00000375442.4:c.801C>T p.Val267= p.V267= ENST00000375442 NM_022117.3 267 gtC/gtT 0 -TSSK4 UCSF GRCh37 14 24676709 24676709 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 44 119 0 ENST00000287913.6:c.798G>A p.Glu266= p.E266= ENST00000287913 266 gaG/gaA 0 -TTBK1 UCSF GRCh37 6 43250801 43250801 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 7 18 0 ENST00000259750.4:c.2323G>A p.Ala775Thr p.A775T ENST00000259750 NM_032538.1 775 Gca/Aca 0 -TTC38 UCSF GRCh37 22 46668245 46668245 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 51 133 0 ENST00000381031.3:c.125C>T p.Thr42Ile p.T42I ENST00000381031 NM_017931.2 42 aCc/aTc 0 -TTC38 UCSF GRCh37 22 46669910 46669910 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 66 129 0 ENST00000381031.3:c.309G>A p.Gln103= p.Q103= ENST00000381031 NM_017931.2 103 caG/caA 0 -TTC39A UCSF GRCh37 1 51760071 51760071 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 76 109 0 ENST00000447632.2:c.1366C>T p.Pro456Ser p.P456S ENST00000447632 456 Cct/Tct 0 -TTC39C UCSF GRCh37 18 21660666 21660666 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 86 67 149 0 ENST00000317571.3:c.578C>T p.Thr193Ile p.T193I ENST00000317571 NM_001135993.1 193 aCt/aTt 0 -TTC7B UCSF GRCh37 14 91142910 91142910 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 137 91 207 0 ENST00000328459.6:c.1109C>T p.Thr370Ile p.T370I ENST00000328459 NM_001010854.1 370 aCc/aTc 0 -TTF2 UCSF GRCh37 1 117618096 117618096 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 99 65 197 0 ENST00000369466.4:c.890A>G p.Asp297Gly p.D297G ENST00000369466 NM_003594.3 297 gAt/gGt 0 -TTI1 UCSF GRCh37 20 36641885 36641885 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 103 235 0 ENST00000373447.3:c.334C>T p.Pro112Ser p.P112S ENST00000373447 112 Cct/Tct 0 -TTLL2 UCSF GRCh37 6 167755101 167755101 + synonymous_variant Silent SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 87 65 148 0 ENST00000239587.5:c.1713G>A p.Arg571= p.R571= ENST00000239587 NM_031949.4 571 agG/agA 0 -TTLL4 UCSF GRCh37 2 219603311 219603311 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 105 184 0 ENST00000258398.4:c.912G>A p.Trp304Ter p.W304* ENST00000258398 304 tgG/tgA 0 -TTLL5 UCSF GRCh37 14 76211907 76211907 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 51 125 0 ENST00000298832.9:c.1470G>A p.Glu490= p.E490= ENST00000298832 NM_015072.4 490 gaG/gaA 0 -TTN UCSF GRCh37 2 179429104 179429104 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 160 107 256 0 ENST00000591111.1:c.76832G>A p.Gly25611Glu p.G25611E ENST00000591111 25611 gGa/gAa 0 -TTN UCSF GRCh37 2 179425139 179425139 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 214 189 343 0 ENST00000591111.1:c.80797C>T p.Pro26933Ser p.P26933S ENST00000591111 26933 Ccc/Tcc 0 -TTN UCSF GRCh37 2 179500188 179500188 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 163 95 222 0 ENST00000591111.1:c.36940C>T p.Pro12314Ser p.P12314S ENST00000591111 12314 Cct/Tct 0 -TTN UCSF GRCh37 2 179642652 179642652 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 62 47 108 0 ENST00000591111.1:c.4259C>T p.Ala1420Val p.A1420V ENST00000591111 1420 gCa/gTa 0 -TTN UCSF GRCh37 2 179429433 179429433 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 129 106 194 0 ENST00000591111.1:c.76503G>A p.Glu25501= p.E25501= ENST00000591111 25501 gaG/gaA 0 -TUBAL3 UCSF GRCh37 10 5436157 5436157 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 70 144 0 ENST00000380419.3:c.664C>T p.Arg222Cys p.R222C ENST00000380419 NM_024803.2 222 Cgt/Tgt 0 -TUBAL3 UCSF GRCh37 10 5435827 5435827 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.00094 P18_Rec Untested WXS Illumina HiSeq 146 96 153 0 ENST00000380419.3:c.994C>T p.Pro332Ser p.P332S ENST00000380419 NM_024803.2 332 Ccc/Tcc 0 -TUBB UCSF GRCh37 6 30691620 30691620 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 129 102 220 0 ENST00000327892.8:c.781C>T p.Pro261Ser p.P261S ENST00000327892 NM_178014.2 261 Cca/Tca 0 -TUBB6 UCSF GRCh37 18 12308752 12308752 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 54 108 0 ENST00000317702.5:c.124C>T p.Leu42= p.L42= ENST00000317702 42 Ctg/Ttg 0 -TUFM UCSF GRCh37 16 28856684 28856684 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 211 84 204 0 ENST00000313511.3:c.365C>T p.Ala122Val p.A122V ENST00000313511 NM_003321.4 122 gCc/gTc 0 -TWF2 UCSF GRCh37 3 52269091 52269091 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 37 67 0 ENST00000305533.5:c.57G>A p.Lys19= p.K19= ENST00000305533 NM_007284.3 19 aaG/aaA 0 -TXLNG UCSF GRCh37 X 16859664 16859664 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 75 79 0 ENST00000380122.5:c.1362C>T p.Val454= p.V454= ENST00000380122 NM_018360.2 454 gtC/gtT 0 -TXNL4B UCSF GRCh37 16 72124636 72124636 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 101 198 0 ENST00000268483.3:c.13C>T p.Leu5= p.L5= ENST00000268483 NM_017853.2 5 Ctg/Ttg 0 -TXNRD1 UCSF GRCh37 12 104712817 104712817 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 191 155 290 0 ENST00000525566.1:c.857G>A p.Gly286Asp p.G286D ENST00000525566 NM_001093771.2 286 gGt/gAt 0 -TYK2 UCSF GRCh37 19 10475430 10475430 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 57 114 0 ENST00000264818.6:c.1227C>T p.Ser409= p.S409= ENST00000264818 409 tcC/tcT 0 -TYW1B UCSF GRCh37 7 72267497 72267497 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 191 144 289 0 ENST00000438904.2:c.764G>A p.Gly255Asp p.G255D ENST00000438904 255 gGt/gAt 0 -UBA6 UCSF GRCh37 4 68530983 68530983 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 59 179 0 ENST00000322244.5:c.821G>A p.Gly274Asp p.G274D ENST00000322244 NM_018227.5 274 gGt/gAt 0 -UBE2F UCSF GRCh37 2 238881803 238881803 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 152 100 234 0 ENST00000272930.4:c.54G>A p.Arg18= p.R18= ENST00000272930 NM_001278308.1 18 cgG/cgA 0 -UBE2O UCSF GRCh37 17 74397137 74397137 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 36 77 0 ENST00000319380.7:c.849G>A p.Lys283= p.K283= ENST00000319380 NM_022066.3 283 aaG/aaA 0 -UBE4B UCSF GRCh37 1 10186901 10186901 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 68 173 0 ENST00000343090.6:c.1604C>T p.Ser535Phe p.S535F ENST00000343090 NM_001105562.2 535 tCc/tTc 0 -UBQLN1 UCSF GRCh37 9 86294846 86294846 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 185 137 280 0 ENST00000376395.4:c.555G>A p.Met185Ile p.M185I ENST00000376395 NM_053067.2 185 atG/atA 0 -UBR3 UCSF GRCh37 2 170734087 170734087 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 77 173 0 ENST00000272793.5:c.928G>A p.Asp310Asn p.D310N ENST00000272793 310 Gat/Aat 0 -UBR3 UCSF GRCh37 2 170912076 170912076 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 60 102 0 ENST00000272793.5:c.4767C>T p.His1589= p.H1589= ENST00000272793 1589 caC/caT 0 -UBR4 UCSF GRCh37 1 19453150 19453150 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 42 86 0 ENST00000375254.3:c.9229-1G>A p.X3077_splice ENST00000375254 NM_020765.2 0 -UBR5 UCSF GRCh37 8 103283366 103283366 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 81 70 125 0 ENST00000520539.1:c.7081G>A p.Asp2361Asn p.D2361N ENST00000520539 NM_015902.5 2361 Gat/Aat 0 -UBTF UCSF GRCh37 17 42288315 42288315 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 29 25 74 0 ENST00000302904.4:c.1204G>A p.Gly402Ser p.G402S ENST00000302904 402 Ggc/Agc 0 -UCN3 UCSF GRCh37 10 5415867 5415867 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 35 43 0 ENST00000380433.3:c.184C>T p.Leu62= p.L62= ENST00000380433 NM_053049.2 62 Ctg/Ttg 0 -UGT2A3 UCSF GRCh37 4 69817062 69817062 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 63 170 0 ENST00000251566.4:c.417G>A p.Gln139= p.Q139= ENST00000251566 NM_024743.3 139 caG/caA 0 -UGT2B7 UCSF GRCh37 4 69964261 69964261 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 173 111 283 0 ENST00000305231.7:c.725G>A p.Arg242Lys p.R242K ENST00000305231 NM_001074.2 242 aGa/aAa 0 -UGT3A1 UCSF GRCh37 5 35965937 35965937 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 63 166 0 ENST00000274278.3:c.394G>A p.Asp132Asn p.D132N ENST00000274278 NM_152404.3 132 Gat/Aat 0 -UGT3A2 UCSF GRCh37 5 36035916 36035916 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 39 102 1 ENST00000282507.3:c.1456C>T p.Leu486Phe p.L486F ENST00000282507 NM_174914.3 486 Ctc/Ttc 0 -UGT3A2 UCSF GRCh37 5 36038081 36038081 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 64 165 0 ENST00000282507.3:c.1113G>A p.Gly371= p.G371= ENST00000282507 NM_174914.3 371 ggG/ggA 0 -BLTP3B UCSF GRCh37 12 100453025 100453025 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 115 92 180 0 ENST00000279907.7:c.2030C>T p.Thr677Ile p.T677I ENST00000279907 NM_015054.1 677 aCt/aTt 0 -ULK2 UCSF GRCh37 17 19700973 19700973 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 39 72 0 ENST00000361658.2:c.1545G>A p.Gln515= p.Q515= ENST00000361658 NM_001142610.1 515 caG/caA 0 -UNC45A UCSF GRCh37 15 91486148 91486148 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 127 89 221 0 ENST00000418476.2:c.863C>T p.Ala288Val p.A288V ENST00000418476 NM_018671.3 288 gCc/gTc 0 -UNC5C UCSF GRCh37 4 96104058 96104058 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 90 199 0 ENST00000453304.1:c.2441C>T p.Thr814Ile p.T814I ENST00000453304 NM_003728.3 814 aCc/aTc 0 -UPF2 UCSF GRCh37 10 12021094 12021094 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 241 79 195 0 ENST00000356352.2:c.1915G>A p.Asp639Asn p.D639N ENST00000356352 639 Gat/Aat 0 -UPF2 UCSF GRCh37 10 12077080 12077080 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 282 166 267 0 ENST00000356352.2:c.343G>A p.Glu115Lys p.E115K ENST00000356352 115 Gaa/Aaa 0 -URB1 UCSF GRCh37 21 33755740 33755740 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 31 71 0 ENST00000382751.3:c.558G>A p.Arg186= p.R186= ENST00000382751 NM_014825.2 186 agG/agA 0 -URGCP UCSF GRCh37 7 43917741 43917741 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 123 105 213 0 ENST00000453200.1:c.1321G>A p.Ala441Thr p.A441T ENST00000453200 441 Gca/Aca 0 -USH2A UCSF GRCh37 1 216420210 216420210 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 142 129 223 0 ENST00000307340.3:c.2526C>T p.Phe842= p.F842= ENST00000307340 NM_206933.2 842 ttC/ttT 0 -USHBP1 UCSF GRCh37 19 17370229 17370229 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 68 151 0 ENST00000252597.3:c.915G>A p.Glu305= p.E305= ENST00000252597 NM_031941.3 305 gaG/gaA 0 -USP18 UCSF GRCh37 22 18650764 18650764 + synonymous_variant Silent SNP T T A NOVEL P18_Rec Untested WXS Illumina HiSeq 27 106 258 0 ENST00000215794.7:c.588T>A p.Leu196= p.L196= ENST00000215794 NM_017414.3 196 ctT/ctA 0 -USP19 UCSF GRCh37 3 49154746 49154746 + intron_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 27 78 0 ENST00000398888.2:c.606+124G>A *202* ENST00000398888 NM_006677.2 0 -USP20 UCSF GRCh37 9 132635984 132635984 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 50 128 0 ENST00000315480.4:c.1701G>A p.Arg567= p.R567= ENST00000315480 567 cgG/cgA 0 -USP32 UCSF GRCh37 17 58303402 58303402 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 124 91 197 0 ENST00000300896.4:c.1430G>A p.Ser477Asn p.S477N ENST00000300896 NM_032582.3 477 aGc/aAc 0 -USP34 UCSF GRCh37 2 61597500 61597500 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 25 244 0 ENST00000398571.2:c.1207C>T p.Arg403Ter p.R403* ENST00000398571 NM_014709.3 403 Cga/Tga 0 -USP36 UCSF GRCh37 17 76816091 76816091 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 63 192 0 ENST00000542802.3:c.832G>A p.Ala278Thr p.A278T ENST00000542802 278 Gct/Act 0 -USP42 UCSF GRCh37 7 6196395 6196395 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 34 148 0 ENST00000306177.5:c.3652G>A p.Asp1218Asn p.D1218N ENST00000306177 NM_032172.2 1218 Gac/Aac 0 -USP43 UCSF GRCh37 17 9580186 9580186 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 56 109 0 ENST00000285199.7:c.957C>T p.Val319= p.V319= ENST00000285199 NM_001267576.1 319 gtC/gtT 0 -USP43 UCSF GRCh37 17 9631548 9631548 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 52 162 0 ENST00000285199.7:c.2613C>T p.Ala871= p.A871= ENST00000285199 NM_001267576.1 871 gcC/gcT 0 -USP44 UCSF GRCh37 12 95926690 95926690 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 68 182 0 ENST00000258499.3:c.1343C>T p.Ala448Val p.A448V ENST00000258499 NM_032147.3 448 gCt/gTt 0 -USP48 UCSF GRCh37 1 22083161 22083161 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 102 244 0 ENST00000308271.9:c.290C>T p.Thr97Ile p.T97I ENST00000308271 NM_032236.5 97 aCt/aTt 0 -USP51 UCSF GRCh37 X 55513774 55513774 + synonymous_variant Silent SNP A A C NOVEL P18_Rec Untested WXS Illumina HiSeq 8 51 69 0 ENST00000500968.3:c.1599T>G p.Ala533= p.A533= ENST00000500968 NM_201286.3 533 gcT/gcG 0 -USP7 UCSF GRCh37 16 8997143 8997143 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 49 139 0 ENST00000344836.4:c.1821G>A p.Gln607= p.Q607= ENST00000344836 NM_003470.2 607 caG/caA 0 -USP7 UCSF GRCh37 16 9009190 9009190 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 227 92 203 0 ENST00000344836.4:c.999G>A p.Gln333= p.Q333= ENST00000344836 NM_003470.2 333 caG/caA 0 -USPL1 UCSF GRCh37 13 31232629 31232629 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 55 189 0 ENST00000255304.4:c.2415C>T p.Asn805= p.N805= ENST00000255304 NM_005800.4 805 aaC/aaT 0 -VAMP1 UCSF GRCh37 12 6575007 6575007 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 69 124 0 ENST00000396308.3:c.288+1G>A p.X96_splice ENST00000396308 NM_199245.1 0 -VAMP4 UCSF GRCh37 1 171697711 171697711 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 27 21 49 0 ENST00000236192.7:c.67-1G>A p.X23_splice ENST00000236192 NM_003762.4 0 -VANGL1 UCSF GRCh37 1 116206884 116206884 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 27 19 52 0 ENST00000310260.3:c.807C>T p.His269= p.H269= ENST00000310260 NM_001172412.1 269 caC/caT 0 -VARS UCSF GRCh37 6 31760855 31760855 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 34 60 0 ENST00000375663.3:c.430G>A p.Glu144Lys p.E144K ENST00000375663 NM_006295.2 144 Gag/Aag 0 -VARS2 UCSF GRCh37 6 30882677 30882677 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 58 64 134 0 ENST00000321897.5:c.64C>T p.Leu22Phe p.L22F ENST00000321897 22 Ctc/Ttc 0 -VARS2 UCSF GRCh37 6 30892185 30892185 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 25 62 0 ENST00000321897.5:c.2521G>A p.Val841Ile p.V841I ENST00000321897 841 Gtc/Atc 0 -VAT1 UCSF GRCh37 17 41168536 41168536 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 29 70 0 ENST00000355653.3:c.886C>T p.Arg296Trp p.R296W ENST00000355653 NM_006373.3 296 Cgg/Tgg 0 -VAV2 UCSF GRCh37 9 136857324 136857324 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 9 15 0 ENST00000371850.3:c.77C>T p.Pro26Leu p.P26L ENST00000371850 NM_001134398.1 26 cCc/cTc 0 -VAX2 UCSF GRCh37 2 71160000 71160000 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 22 67 0 ENST00000234392.2:c.539C>T p.Ser180Phe p.S180F ENST00000234392 NM_012476.2 180 tCc/tTc 0 -VEGFC UCSF GRCh37 4 177649081 177649081 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 69 150 0 ENST00000280193.2:c.403G>A p.Glu135Lys p.E135K ENST00000280193 NM_005429.3 135 Gag/Aag 0 -VGLL3 UCSF GRCh37 3 87039824 87039824 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 29 10 44 0 ENST00000398399.2:c.70G>A p.Ala24Thr p.A24T ENST00000398399 NM_016206.2 24 Gca/Aca 0 -VIL1 UCSF GRCh37 2 219295554 219295554 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 34 103 0 ENST00000248444.5:c.1055C>T p.Ser352Phe p.S352F ENST00000248444 NM_007127.2 352 tCc/tTc 0 -VIL1 UCSF GRCh37 2 219301967 219301967 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 73 145 0 ENST00000248444.5:c.2092G>A p.Val698Met p.V698M ENST00000248444 NM_007127.2 698 Gtg/Atg 0 -VIPR2 UCSF GRCh37 7 158824555 158824555 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 43 113 0 ENST00000262178.2:c.1107G>A p.Leu369= p.L369= ENST00000262178 NM_003382.4 369 ctG/ctA 0 -VIT UCSF GRCh37 2 37041492 37041492 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 64 147 0 ENST00000389975.3:c.2025G>A p.Gln675= p.Q675= ENST00000389975 NM_001177970.1 675 caG/caA 0 -VOPP1 UCSF GRCh37 7 55560094 55560094 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 13 41 0 ENST00000285279.5:c.209G>A p.Gly70Asp p.G70D ENST00000285279 NM_030796.3 70 gGc/gAc 0 -VPRBP UCSF GRCh37 3 51475733 51475733 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 211 150 346 0 ENST00000504652.1:c.694G>A p.Glu232Lys p.E232K ENST00000504652 232 Gaa/Aaa 0 -VPS13D UCSF GRCh37 1 12429692 12429692 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 139 99 228 0 ENST00000358136.3:c.10743C>T p.Phe3581= p.F3581= ENST00000358136 NM_015378.2 3581 ttC/ttT 0 -VPS13D UCSF GRCh37 1 12557575 12557575 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 66 110 0 ENST00000358136.3:c.12684G>A p.Arg4228= p.R4228= ENST00000358136 NM_015378.2 4228 cgG/cgA 0 -VPS33A UCSF GRCh37 12 122726966 122726966 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 94 209 0 ENST00000267199.4:c.1059C>T p.Asn353= p.N353= ENST00000267199 NM_022916.4 353 aaC/aaT 0 -VPS33B UCSF GRCh37 15 91543182 91543182 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 126 102 205 0 ENST00000333371.3:c.1605G>A p.Gln535= p.Q535= ENST00000333371 NM_018668.3 535 caG/caA 0 -VPS39 UCSF GRCh37 15 42454583 42454583 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 51 116 0 ENST00000348544.4:c.2305C>T p.Gln769Ter p.Q769* ENST00000348544 769 Cag/Tag 0 -VPS39 UCSF GRCh37 15 42453939 42453939 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 175 109 221 0 ENST00000348544.4:c.2526G>A p.Val842= p.V842= ENST00000348544 842 gtG/gtA 0 -VPS53 UCSF GRCh37 17 465893 465893 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 65 118 0 ENST00000571805.1:c.1406C>T p.Pro469Leu p.P469L ENST00000571805 469 cCc/cTc 0 -VPS54 UCSF GRCh37 2 64161058 64161058 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 56 117 0 ENST00000272322.4:c.1488G>A p.Lys496= p.K496= ENST00000272322 496 aaG/aaA 0 -VSIG10L UCSF GRCh37 19 51840535 51840535 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 19 51 0 ENST00000335624.4:c.2262G>A p.Gly754= p.G754= ENST00000335624 NM_001163922.1 754 ggG/ggA 0 -VSTM4 UCSF GRCh37 10 50315883 50315883 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 46 142 0 ENST00000332853.4:c.213G>A p.Gln71= p.Q71= ENST00000332853 NM_001031746.3 71 caG/caA 0 -VTN UCSF GRCh37 17 26694933 26694933 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 25 62 0 ENST00000226218.4:c.1127G>A p.Arg376His p.R376H ENST00000226218 NM_000638.3 376 cGc/cAc 0 -VWA3B UCSF GRCh37 2 98846658 98846658 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 61 118 0 ENST00000477737.1:c.2296G>A p.Val766Ile p.V766I ENST00000477737 NM_144992.4 766 Gtc/Atc 0 -VWA5B2 UCSF GRCh37 3 183958847 183958847 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 16 35 0 ENST00000426955.2:c.2914C>T p.His972Tyr p.H972Y ENST00000426955 NM_138345.1 972 Cac/Tac 0 -VWDE UCSF GRCh37 7 12376886 12376886 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 45 122 0 ENST00000275358.3:c.4379C>T p.Pro1460Leu p.P1460L ENST00000275358 NM_001135924.1 1460 cCt/cTt 0 -WAPAL UCSF GRCh37 10 88211755 88211755 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 79 165 0 ENST00000298767.5:c.3083G>A p.Gly1028Glu p.G1028E ENST00000298767 NM_015045.2 1028 gGa/gAa 0 -WAPAL UCSF GRCh37 10 88233649 88233649 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 142 90 212 0 ENST00000298767.5:c.1726C>T p.Pro576Ser p.P576S ENST00000298767 NM_015045.2 576 Cct/Tct 0 -WBP4 UCSF GRCh37 13 41639178 41639178 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 49 134 0 ENST00000379487.3:c.102G>A p.Lys34= p.K34= ENST00000379487 NM_007187.3 34 aaG/aaA 0 -WDFY3 UCSF GRCh37 4 85771060 85771060 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 154 100 247 0 ENST00000295888.4:c.299C>T p.Ser100Phe p.S100F ENST00000295888 NM_014991.4 100 tCc/tTc 0 -WDFY3 UCSF GRCh37 4 85599335 85599335 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 72 177 0 ENST00000295888.4:c.10245C>T p.Ala3415= p.A3415= ENST00000295888 NM_014991.4 3415 gcC/gcT 0 -WDFY3 UCSF GRCh37 4 85605246 85605246 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 50 143 0 ENST00000295888.4:c.9576C>T p.Ile3192= p.I3192= ENST00000295888 NM_014991.4 3192 atC/atT 0 -WDFY4 UCSF GRCh37 10 50040716 50040716 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 112 108 168 0 ENST00000325239.5:c.6625C>T p.Pro2209Ser p.P2209S ENST00000325239 NM_020945.1 2209 Ccc/Tcc 0 -WDFY4 UCSF GRCh37 10 49951044 49951044 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 21 51 0 ENST00000325239.5:c.1910G>A p.Gly637Asp p.G637D ENST00000325239 NM_020945.1 637 gGt/gAt 0 -WDR11 UCSF GRCh37 10 122645451 122645451 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 68 144 0 ENST00000263461.6:c.1973+1G>A p.X658_splice ENST00000263461 NM_018117.11 0 -WDR36 UCSF GRCh37 5 110441832 110441832 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 80 162 0 ENST00000506538.2:c.1338G>A p.Lys446= p.K446= ENST00000506538 NM_139281.2 446 aaG/aaA 0 -WDR47 UCSF GRCh37 1 109533922 109533922 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 88 193 1 ENST00000369962.3:c.1721C>T p.Pro574Leu p.P574L ENST00000369962 574 cCt/cTt 0 -WDR48 UCSF GRCh37 3 39116230 39116230 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 52 111 0 ENST00000302313.5:c.686G>A p.Ser229Asn p.S229N ENST00000302313 NM_020839.2 229 aGt/aAt 0 -WDR54 UCSF GRCh37 2 74650480 74650480 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 127 111 187 0 ENST00000348227.4:c.320G>A p.Trp107Ter p.W107* ENST00000348227 NM_032118.2 107 tGg/tAg 0 -WDR60 UCSF GRCh37 7 158662547 158662547 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 68 186 0 ENST00000407559.3:c.17G>A p.Arg6Lys p.R6K ENST00000407559 NM_018051.4 6 aGa/aAa 0 -SKIC8 UCSF GRCh37 15 78585531 78585531 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 80 184 0 ENST00000267973.2:c.124G>A p.Asp42Asn p.D42N ENST00000267973 42 Gac/Aac 0 -WDR63 UCSF GRCh37 1 85592310 85592310 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 75 139 0 ENST00000294664.6:c.2229G>A p.Trp743Ter p.W743* ENST00000294664 NM_145172.3 743 tgG/tgA 0 -WDR69 UCSF GRCh37 2 228786134 228786134 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 96 182 0 ENST00000309931.2:c.1070G>A p.Gly357Glu p.G357E ENST00000309931 NM_178821.1 357 gGg/gAg 0 -WDR76 UCSF GRCh37 15 44158475 44158475 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 122 212 0 ENST00000263795.6:c.1766G>A p.Gly589Glu p.G589E ENST00000263795 NM_001167941.1 589 gGa/gAa 0 -WDR82 UCSF GRCh37 3 52293841 52293841 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 201 139 258 0 ENST00000296490.3:c.591G>A p.Trp197Ter p.W197* ENST00000296490 NM_025222.3 197 tgG/tgA 0 -WDR87 UCSF GRCh37 19 38377607 38377607 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 150 104 241 0 ENST00000303868.5:c.6587G>A p.Arg2196Lys p.R2196K ENST00000303868 NM_031951.3 2196 aGg/aAg 0 -WDR87 UCSF GRCh37 19 38385526 38385526 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 17 33 0 ENST00000303868.5:c.700G>A p.Gly234Ser p.G234S ENST00000303868 NM_031951.3 234 Ggc/Agc 0 -WDR90 UCSF GRCh37 16 706475 706475 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 3 16 0 ENST00000293879.4:c.2140C>T p.Gln714Ter p.Q714* ENST00000293879 714 Cag/Tag 0 -WDR91 UCSF GRCh37 7 134873185 134873185 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 74 142 0 ENST00000354475.4:c.1881G>A p.Lys627= p.K627= ENST00000354475 NM_014149.3 627 aaG/aaA 0 -WFDC12 UCSF GRCh37 20 43752816 43752816 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 34 123 0 ENST00000372785.3:c.170G>A p.Gly57Glu p.G57E ENST00000372785 NM_080869.1 57 gGg/gAg 0 -WFDC12 UCSF GRCh37 20 43752779 43752779 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Rec Untested WXS Illumina HiSeq 65 34 114 0 ENST00000372785.3:c.207G>C p.Lys69Asn p.K69N ENST00000372785 NM_080869.1 69 aaG/aaC 0 -WHSC1 UCSF GRCh37 4 1902712 1902712 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 72 65 140 0 ENST00000382891.5:c.331C>T p.Pro111Ser p.P111S ENST00000382891 NM_133335.3 111 Ccc/Tcc 0 -WHSC1 UCSF GRCh37 4 1936936 1936936 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 111 213 0 ENST00000382891.5:c.1621G>A p.Ala541Thr p.A541T ENST00000382891 NM_133335.3 541 Gct/Act 0 -WHSC1 UCSF GRCh37 4 1962801 1962801 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 101 208 0 ENST00000382891.5:c.3295G>A p.Glu1099Lys p.E1099K ENST00000382891 NM_133335.3 1099 Gag/Aag 0 -WIPI2 UCSF GRCh37 7 5254295 5254295 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 109 226 0 ENST00000288828.4:c.341G>A p.Ser114Asn p.S114N ENST00000288828 NM_001278299.1 114 aGc/aAc 0 -WIZ UCSF GRCh37 19 15537936 15537936 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 43 91 0 ENST00000263381.7:c.938C>T p.Pro313Leu p.P313L ENST00000263381 NM_021241.2 313 cCc/cTc 0 -WNK3 UCSF GRCh37 X 54259424 54259424 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 89 106 0 ENST00000354646.2:c.4658C>T p.Thr1553Ile p.T1553I ENST00000354646 NM_020922.4 1553 aCc/aTc 0 -WNT1 UCSF GRCh37 12 49373497 49373497 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 24 48 0 ENST00000293549.3:c.351C>T p.Val117= p.V117= ENST00000293549 NM_005430.3 117 gtC/gtT 0 -WNT2B UCSF GRCh37 1 113057690 113057690 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 38 93 0 ENST00000369684.4:c.377C>T p.Thr126Ile p.T126I ENST00000369684 NM_024494.2 126 aCc/aTc 0 -WNT7B UCSF GRCh37 22 46327072 46327072 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 34 103 0 ENST00000339464.4:c.476G>A p.Gly159Asp p.G159D ENST00000339464 NM_058238.2 159 gGc/gAc 0 -WNT9A UCSF GRCh37 1 228109320 228109320 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 26 68 0 ENST00000272164.5:c.997C>T p.Arg333Trp p.R333W ENST00000272164 NM_003395.2 333 Cgg/Tgg 0 -WSB2 UCSF GRCh37 12 118476159 118476159 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 36 77 0 ENST00000315436.3:c.594G>A p.Gln198= p.Q198= ENST00000315436 NM_018639.4 198 caG/caA 0 -WWP2 UCSF GRCh37 16 69964091 69964091 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 61 86 0 ENST00000359154.2:c.1375G>A p.Val459Met p.V459M ENST00000359154 NM_001270454.1 459 Gtg/Atg 0 -WWTR1 UCSF GRCh37 3 149260308 149260308 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 42 108 0 ENST00000360632.3:c.585C>T p.His195= p.H195= ENST00000360632 NM_015472.4 195 caC/caT 0 -XCL2 UCSF GRCh37 1 168510233 168510233 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 67 145 0 ENST00000367819.2:c.302G>A p.Gly101Glu p.G101E ENST00000367819 NM_003175.3 101 gGa/gAa 0 -XCR1 UCSF GRCh37 3 46063248 46063248 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 50 98 0 ENST00000309285.3:c.192C>T p.Ser64= p.S64= ENST00000309285 NM_001024644.1 64 tcC/tcT 0 -XIRP1 UCSF GRCh37 3 39228860 39228860 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 55 103 0 ENST00000340369.3:c.2077G>A p.Val693Met p.V693M ENST00000340369 NM_194293.2 693 Gtg/Atg 0 -XIRP1 UCSF GRCh37 3 39229708 39229708 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 178 133 249 0 ENST00000340369.3:c.1229G>A p.Gly410Asp p.G410D ENST00000340369 NM_194293.2 410 gGt/gAt 0 -XIRP1 UCSF GRCh37 3 39228192 39228192 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 60 29 83 0 ENST00000340369.3:c.2745G>A p.Arg915= p.R915= ENST00000340369 NM_194293.2 915 cgG/cgA 0 -XIRP2 UCSF GRCh37 2 168103905 168103905 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 86 77 142 0 ENST00000409195.1:c.6003G>A p.Met2001Ile p.M2001I ENST00000409195 NM_152381.5 2001 atG/atA 0 -XIRP2 UCSF GRCh37 2 168107768 168107768 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Rec Untested WXS Illumina HiSeq 150 101 244 0 ENST00000409195.1:c.9866G>C p.Ser3289Thr p.S3289T ENST00000409195 NM_152381.5 3289 aGt/aCt 0 -XIRP2 UCSF GRCh37 2 168115309 168115309 + 3_prime_UTR_variant 3'UTR SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 72 198 0 ENST00000409195.1:c.*982G>A *328* ENST00000409195 NM_152381.5 0 -XKR7 UCSF GRCh37 20 30584735 30584735 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 78 59 136 0 ENST00000562532.2:c.1215C>T p.Ser405= p.S405= ENST00000562532 NM_001011718.1 405 agC/agT 0 -XKRX UCSF GRCh37 X 100169423 100169423 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 147 144 0 ENST00000372956.2:c.1254C>T p.Asp418= p.D418= ENST00000372956 418 gaC/gaT 0 -XPR1 UCSF GRCh37 1 180772570 180772570 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 90 161 0 ENST00000367590.4:c.270G>A p.Glu90= p.E90= ENST00000367590 NM_004736.3 90 gaG/gaA 0 -YSK4 UCSF GRCh37 2 135744645 135744645 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 160 96 248 0 ENST00000375845.3:c.1797G>A p.Lys599= p.K599= ENST00000375845 NM_025052.3 599 aaG/aaA 0 -YTHDC1 UCSF GRCh37 4 69196001 69196001 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 33 100 0 ENST00000344157.4:c.1150G>A p.Glu384Lys p.E384K ENST00000344157 NM_001031732.2 384 Gag/Aag 0 -YTHDC1 UCSF GRCh37 4 69184300 69184300 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 46 83 0 ENST00000344157.4:c.1762-1G>A p.X588_splice ENST00000344157 NM_001031732.2 0 -YTHDC2 UCSF GRCh37 5 112851004 112851004 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 142 92 169 0 ENST00000161863.4:c.223A>G p.Arg75Gly p.R75G ENST00000161863 NM_022828.3 75 Aga/Gga 0 -YTHDF2 UCSF GRCh37 1 29069051 29069051 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 156 109 261 0 ENST00000373812.3:c.269G>A p.Gly90Glu p.G90E ENST00000373812 NM_016258.2 90 gGa/gAa 0 -YY1 UCSF GRCh37 14 100742893 100742893 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 80 190 0 ENST00000262238.4:c.970G>A p.Val324Ile p.V324I ENST00000262238 NM_003403.4 324 Gtc/Atc 0 -YY1 UCSF GRCh37 14 100743830 100743830 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 86 187 0 ENST00000262238.4:c.1138G>A p.Asp380Asn p.D380N ENST00000262238 NM_003403.4 380 Gac/Aac 0 -ZAN UCSF GRCh37 7 100350307 100350307 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 16 15 0 ENST00000546292.1:c.2579C>T p.Pro860Leu p.P860L ENST00000546292 NM_173059.1 860 cCc/cTc 0 -ZAN UCSF GRCh37 7 100383720 100383720 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 128 78 177 0 ENST00000546292.1:c.6933C>T p.Cys2311= p.C2311= ENST00000546292 NM_173059.1 2311 tgC/tgT 0 -ZAN UCSF GRCh37 7 100365518 100365518 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 69 123 0 ENST00000546292.1:c.4925G>A p.Ser1642Asn p.S1642N ENST00000546292 NM_173059.1 1642 aGc/aAc 0 -ZBED4 UCSF GRCh37 22 50278716 50278716 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 91 205 0 ENST00000216268.5:c.1406C>T p.Pro469Leu p.P469L ENST00000216268 NM_014838.2 469 cCc/cTc 0 -ZBTB11 UCSF GRCh37 3 101371436 101371436 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 132 91 248 0 ENST00000312938.4:c.2548G>A p.Gly850Arg p.G850R ENST00000312938 NM_014415.3 850 Gga/Aga 0 -ZBTB38 UCSF GRCh37 3 141164212 141164212 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 42 84 0 ENST00000321464.5:c.2985G>A p.Gly995= p.G995= ENST00000321464 995 ggG/ggA 0 -ZBTB45 UCSF GRCh37 19 59028884 59028884 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 51 121 0 ENST00000354590.3:c.157G>A p.Ala53Thr p.A53T ENST00000354590 NM_032792.2 53 Gcc/Acc 0 -ZBTB45 UCSF GRCh37 19 59028490 59028490 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 59 126 0 ENST00000354590.3:c.551C>T p.Pro184Leu p.P184L ENST00000354590 NM_032792.2 184 cCc/cTc 0 -ZBTB7C UCSF GRCh37 18 45566509 45566509 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 46 123 0 ENST00000535628.2:c.970C>T p.Pro324Ser p.P324S ENST00000535628 NM_001039360.2 324 Ccc/Tcc 0 -ZC3H12A UCSF GRCh37 1 37948447 37948447 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 51 116 0 ENST00000373087.6:c.1035C>T p.Pro345= p.P345= ENST00000373087 NM_025079.2 345 ccC/ccT 0 -ZC3H12C UCSF GRCh37 11 110035699 110035699 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 177 143 297 0 ENST00000278590.3:c.1889G>A p.Gly630Glu p.G630E ENST00000278590 NM_033390.1 630 gGg/gAg 0 -ZC3H6 UCSF GRCh37 2 113069414 113069414 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 98 240 0 ENST00000343936.4:c.647G>A p.Gly216Asp p.G216D ENST00000343936 216 gGt/gAt 0 -ZC3H6 UCSF GRCh37 2 113088668 113088668 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 137 90 195 0 ENST00000343936.4:c.2173G>A p.Glu725Lys p.E725K ENST00000343936 725 Gaa/Aaa 0 -ZC3H6 UCSF GRCh37 2 113089968 113089968 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 153 105 234 0 ENST00000343936.4:c.3473G>A p.Ser1158Asn p.S1158N ENST00000343936 1158 aGc/aAc 0 -ZCCHC14 UCSF GRCh37 16 87445700 87445700 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 25 67 0 ENST00000268616.4:c.2216C>T p.Pro739Leu p.P739L ENST00000268616 NM_015144.2 739 cCt/cTt 0 -ZCWPW2 UCSF GRCh37 3 28476702 28476702 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 124 94 181 0 ENST00000383768.2:c.434C>T p.Pro145Leu p.P145L ENST00000383768 145 cCc/cTc 0 -ZDHHC17 UCSF GRCh37 12 77244705 77244705 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 176 123 306 0 ENST00000426126.2:c.1839G>A p.Trp613Ter p.W613* ENST00000426126 NM_015336.2 613 tgG/tgA 0 -ZDHHC23 UCSF GRCh37 3 113673143 113673143 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 37 105 0 ENST00000330212.3:c.758C>T p.Pro253Leu p.P253L ENST00000330212 NM_173570.3 253 cCc/cTc 0 -ZEB1 UCSF GRCh37 10 31812964 31812964 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 357 129 302 0 ENST00000320985.10:c.2705G>A p.Gly902Glu p.G902E ENST00000320985 902 gGa/gAa 0 -ZFC3H1 UCSF GRCh37 12 72020039 72020039 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 70 168 0 ENST00000378743.3:c.4317+1G>A p.X1439_splice ENST00000378743 NM_144982.4 0 -ZFHX2 UCSF GRCh37 14 24002695 24002695 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 29 58 0 ENST00000419474.3:c.1840G>A p.Gly614Arg p.G614R ENST00000419474 NM_033400.2 614 Ggg/Agg 0 -ZFHX2 UCSF GRCh37 14 24004210 24004210 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 44 118 0 ENST00000419474.3:c.325G>A p.Asp109Asn p.D109N ENST00000419474 NM_033400.2 109 Gac/Aac 0 -ZFHX3 UCSF GRCh37 16 72829959 72829959 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 144 103 218 0 ENST00000268489.5:c.6622C>T p.Pro2208Ser p.P2208S ENST00000268489 NM_006885.3 2208 Cct/Tct 0 -ZFP30 UCSF GRCh37 19 38126599 38126599 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 93 207 0 ENST00000351218.2:c.843G>A p.Gln281= p.Q281= ENST00000351218 NM_014898.2 281 caG/caA 0 -ZFP92 UCSF GRCh37 X 152686803 152686803 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 1 24 28 0 ENST00000338647.5:c.968G>A p.Arg323His p.R323H ENST00000338647 NM_001136273.1 323 cGc/cAc 0 -ZFPM2 UCSF GRCh37 8 106573677 106573677 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 171 110 254 0 ENST00000407775.2:c.388C>T p.Pro130Ser p.P130S ENST00000407775 NM_012082.3 130 Cct/Tct 0 -ZFY UCSF GRCh37 Y 2829565 2829565 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 24 131 159 0 ENST00000155093.3:c.512T>C p.Ile171Thr p.I171T ENST00000155093 NM_003411.3 171 aTa/aCa 0 -ZFYVE16 UCSF GRCh37 5 79733758 79733758 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 67 154 0 ENST00000338008.5:c.1254G>A p.Gln418= p.Q418= ENST00000338008 NM_014733.3 418 caG/caA 0 -ZFYVE20 UCSF GRCh37 3 15115414 15115414 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 68 163 0 ENST00000253699.3:c.2230G>A p.Asp744Asn p.D744N ENST00000253699 NM_022340.2 744 Gat/Aat 0 -ZFYVE26 UCSF GRCh37 14 68234548 68234548 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 82 155 0 ENST00000347230.4:c.5663G>A p.Ser1888Asn p.S1888N ENST00000347230 NM_015346.3 1888 aGc/aAc 0 -ZFYVE26 UCSF GRCh37 14 68264935 68264935 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 49 130 0 ENST00000347230.4:c.2044G>A p.Glu682Lys p.E682K ENST00000347230 NM_015346.3 682 Gaa/Aaa 0 -ZFYVE28 UCSF GRCh37 4 2306047 2306047 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 48 84 0 ENST00000290974.2:c.2020C>T p.His674Tyr p.H674Y ENST00000290974 NM_020972.2 674 Cac/Tac 0 -ZFYVE9 UCSF GRCh37 1 52803605 52803605 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 33 70 0 ENST00000287727.3:c.3832G>A p.Gly1278Ser p.G1278S ENST00000287727 NM_004799.3 1278 Ggt/Agt 0 -ZKSCAN5 UCSF GRCh37 7 99123443 99123443 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 99 197 0 ENST00000326775.5:c.780G>A p.Glu260= p.E260= ENST00000326775 NM_145102.2 260 gaG/gaA 0 -ZMYM2 UCSF GRCh37 13 20632781 20632781 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 210 111 313 0 ENST00000382871.2:c.2560C>T p.Pro854Ser p.P854S ENST00000382871 854 Cct/Tct 0 -ZNF12 UCSF GRCh37 7 6730763 6730763 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 167 142 250 0 ENST00000405858.1:c.1810G>A p.Ala604Thr p.A604T ENST00000405858 NM_016265.3 604 Gcc/Acc 0 -ZNF133 UCSF GRCh37 20 18296873 18296873 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 71 158 0 ENST00000316358.4:c.1378C>T p.His460Tyr p.H460Y ENST00000316358 NM_001283008.1 460 Cac/Tac 0 -ZNF133 UCSF GRCh37 20 18286988 18286988 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 53 33 84 0 ENST00000316358.4:c.168G>A p.Gly56= p.G56= ENST00000316358 NM_001283008.1 56 ggG/ggA 0 -ZNF141 UCSF GRCh37 4 367239 367239 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 212 105 306 0 ENST00000240499.7:c.1013C>T p.Pro338Leu p.P338L ENST00000240499 NM_003441.2 338 cCc/cTc 0 -ZNF148 UCSF GRCh37 3 125007042 125007042 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 68 125 0 ENST00000360647.4:c.364G>A p.Asp122Asn p.D122N ENST00000360647 NM_021964.2 122 Gat/Aat 0 -ZNF167 UCSF GRCh37 3 44612845 44612845 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 89 216 0 ENST00000273320.3:c.2243G>A p.Gly748Asp p.G748D ENST00000273320 NM_018651.2 748 gGt/gAt 0 -ZNF189 UCSF GRCh37 9 104171069 104171069 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 167 113 197 0 ENST00000339664.2:c.1019G>A p.Gly340Asp p.G340D ENST00000339664 NM_001278240.1 340 gGc/gAc 0 -ZNF207 UCSF GRCh37 17 30688510 30688510 + intron_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 25 82 0 ENST00000321233.6:c.551+524C>T *184* ENST00000321233 NM_003457.3 0 -ZNF208 UCSF GRCh37 19 22156272 22156272 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 104 314 0 ENST00000397126.4:c.1564G>A p.Glu522Lys p.E522K ENST00000397126 NM_007153.3 522 Gag/Aag 0 -ZNF232 UCSF GRCh37 17 5009700 5009700 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 77 198 0 ENST00000250076.3:c.754G>A p.Asp252Asn p.D252N ENST00000250076 NM_014519.2 252 Gac/Aac 0 -ZNF259 UCSF GRCh37 11 116655613 116655613 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 42 96 0 ENST00000227322.3:c.778C>T p.Pro260Ser p.P260S ENST00000227322 NM_003904.3 260 Cca/Tca 0 -ZNF273 UCSF GRCh37 7 64388509 64388509 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 48 167 0 ENST00000319636.5:c.608G>A p.Gly203Asp p.G203D ENST00000319636 203 gGc/gAc 0 -ZNF273 UCSF GRCh37 7 64378666 64378666 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 189 89 244 0 ENST00000319636.5:c.126C>T p.Pro42= p.P42= ENST00000319636 42 ccC/ccT 0 -ZNF274 UCSF GRCh37 19 58718448 58718448 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 19 53 0 ENST00000326804.4:c.616G>A p.Glu206Lys p.E206K ENST00000326804 NM_133502.2 206 Gag/Aag 0 -ZNF276 UCSF GRCh37 16 89804646 89804646 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 17 28 0 ENST00000443381.2:c.1837C>T p.Pro613Ser p.P613S ENST00000443381 NM_001113525.1 613 Ccc/Tcc 0 -ZNF280D UCSF GRCh37 15 56968955 56968955 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Rec Untested WXS Illumina HiSeq 158 97 209 0 ENST00000267807.7:c.1323T>G p.His441Gln p.H441Q ENST00000267807 NM_017661.2 441 caT/caG 0 -ZNF280D UCSF GRCh37 15 56969839 56969839 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Rec Untested WXS Illumina HiSeq 75 46 114 0 ENST00000267807.7:c.1196C>G p.Thr399Arg p.T399R ENST00000267807 NM_017661.2 399 aCa/aGa 0 -ZNF281 UCSF GRCh37 1 200376691 200376691 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 98 219 0 ENST00000294740.3:c.2143C>T p.Pro715Ser p.P715S ENST00000294740 NM_001281293.1 715 Cct/Tct 0 -ZNF282 UCSF GRCh37 7 148895529 148895529 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 72 141 0 ENST00000262085.3:c.270G>A p.Gln90= p.Q90= ENST00000262085 NM_003575.2 90 caG/caA 0 -ZNF317 UCSF GRCh37 19 9271310 9271310 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 45 119 0 ENST00000247956.6:c.989G>A p.Gly330Glu p.G330E ENST00000247956 NM_020933.4 330 gGa/gAa 0 -ZNF335 UCSF GRCh37 20 44596467 44596467 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 30 104 0 ENST00000322927.2:c.720G>A p.Val240= p.V240= ENST00000322927 NM_022095.3 240 gtG/gtA 0 -ZNF343 UCSF GRCh37 20 2464326 2464326 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 138 93 210 0 ENST00000278772.4:c.1281C>T p.His427= p.H427= ENST00000278772 NM_024325.4 427 caC/caT 0 -ZNF418 UCSF GRCh37 19 58437817 58437817 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 137 93 225 0 ENST00000396147.1:c.1732C>T p.Leu578Phe p.L578F ENST00000396147 NM_133460.1 578 Ctc/Ttc 0 -ZNF432 UCSF GRCh37 19 52537770 52537770 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 166 133 272 0 ENST00000221315.5:c.1162A>G p.Met388Val p.M388V ENST00000221315 NM_014650.2 388 Atg/Gtg 0 -ZNF434 UCSF GRCh37 16 3433147 3433147 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 157 85 134 0 ENST00000396846.3:c.1799C>T p.Thr600Ile p.T600I ENST00000396846 600 aCc/aTc 0 -ZNF440 UCSF GRCh37 19 11943637 11943637 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 99 216 0 ENST00000304060.5:c.1646G>A p.Gly549Glu p.G549E ENST00000304060 NM_152357.2 549 gGa/gAa 0 -ZNF445 UCSF GRCh37 3 44488170 44488170 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 150 129 275 0 ENST00000396077.2:c.2993G>A p.Arg998Lys p.R998K ENST00000396077 NM_181489.5 998 aGa/aAa 0 -ZNF451 UCSF GRCh37 6 57017077 57017077 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 66 154 0 ENST00000370706.4:c.2811G>A p.Arg937= p.R937= ENST00000370706 NM_001031623.2 937 agG/agA 0 -ZNF462 UCSF GRCh37 9 109688504 109688504 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 102 76 164 0 ENST00000277225.5:c.2311G>A p.Glu771Lys p.E771K ENST00000277225 771 Gag/Aag 0 -ZNF462 UCSF GRCh37 9 109691673 109691673 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 78 150 0 ENST00000277225.5:c.5480G>A p.Gly1827Asp p.G1827D ENST00000277225 1827 gGc/gAc 0 -ZNF473 UCSF GRCh37 19 50542435 50542435 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 65 162 0 ENST00000270617.3:c.27G>A p.Lys9= p.K9= ENST00000270617 NM_015428.1 9 aaG/aaA 0 -ZNF496 UCSF GRCh37 1 247473629 247473629 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 50 106 0 ENST00000294753.4:c.781C>T p.Pro261Ser p.P261S ENST00000294753 NM_032752.1 261 Cca/Tca 0 -ZNF497 UCSF GRCh37 19 58867996 58867996 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 10 18 0 ENST00000311044.3:c.1006G>A p.Gly336Ser p.G336S ENST00000311044 NM_198458.2 336 Ggc/Agc 0 -ZNF500 UCSF GRCh37 16 4815955 4815955 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 42 118 0 ENST00000219478.6:c.25C>T p.Pro9Ser p.P9S ENST00000219478 9 Ccc/Tcc 0 -ZNF500 UCSF GRCh37 16 4815944 4815944 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 58 112 0 ENST00000219478.6:c.36C>T p.Thr12= p.T12= ENST00000219478 12 acC/acT 0 -ZNF513 UCSF GRCh37 2 27600534 27600534 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0011 P18_Rec Untested WXS Illumina HiSeq 25 65 162 0 ENST00000323703.6:c.1504C>T p.Pro502Ser p.P502S ENST00000323703 NM_144631.5 502 Cct/Tct 0 -ZNF516 UCSF GRCh37 18 74091160 74091160 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 37 27 65 0 ENST00000443185.2:c.2910C>T p.Ala970= p.A970= ENST00000443185 NM_014643.3 970 gcC/gcT 0 -ZNF517 UCSF GRCh37 8 146032905 146032905 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 4 26 0 ENST00000359971.3:c.604G>A p.Ala202Thr p.A202T ENST00000359971 NM_213605.2 202 Gcc/Acc 0 -ZNF518B UCSF GRCh37 4 10445190 10445190 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 163 139 254 0 ENST00000326756.3:c.2763G>A p.Arg921= p.R921= ENST00000326756 NM_053042.2 921 agG/agA 0 -ZNF534 UCSF GRCh37 19 52942513 52942513 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 176 132 271 0 ENST00000332323.6:c.1839T>C p.His613= p.H613= ENST00000332323 NM_001143939.1 613 caT/caC 0 -ZNF540 UCSF GRCh37 19 38090612 38090612 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 90 182 0 ENST00000316433.4:c.95G>A p.Arg32Lys p.R32K ENST00000316433 NM_001172225.2 32 aGa/aAa 0 -ZNF570 UCSF GRCh37 19 37975761 37975761 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 156 119 238 0 ENST00000330173.1:c.1237C>T p.Pro413Ser p.P413S ENST00000330173 NM_144694.1 413 Cct/Tct 0 -ZNF570 UCSF GRCh37 19 37975724 37975724 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 106 191 0 ENST00000330173.1:c.1200C>T p.His400= p.H400= ENST00000330173 NM_144694.1 400 caC/caT 0 -ZNF586 UCSF GRCh37 19 58290725 58290725 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 145 80 246 0 ENST00000396154.2:c.770C>T p.Thr257Ile p.T257I ENST00000396154 NM_017652.3 257 aCa/aTa 0 -ZNF592 UCSF GRCh37 15 85326026 85326026 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 129 104 226 0 ENST00000299927.3:c.120C>T p.Pro40= p.P40= ENST00000299927 40 ccC/ccT 0 -ZNF608 UCSF GRCh37 5 124079985 124079985 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 62 144 0 ENST00000306315.5:c.698G>A p.Gly233Glu p.G233E ENST00000306315 NM_020747.2 233 gGg/gAg 0 -ZNF621 UCSF GRCh37 3 40571750 40571750 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 57 107 0 ENST00000339296.5:c.202G>A p.Glu68Lys p.E68K ENST00000339296 NM_198484.3 68 Gaa/Aaa 0 -ZNF628 UCSF GRCh37 19 55995469 55995469 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 15 15 0 ENST00000598519.1:c.2909C>T p.Pro970Leu p.P970L ENST00000598519 NM_033113.2 970 cCc/cTc 0 -ZNF646 UCSF GRCh37 16 31088860 31088860 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 34 15 43 0 ENST00000394979.2:c.1215C>T p.Leu405= p.L405= ENST00000394979 405 ctC/ctT 0 -ZNF648 UCSF GRCh37 1 182026975 182026975 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 56 159 0 ENST00000339948.3:c.171C>T p.Gly57= p.G57= ENST00000339948 NM_001009992.1 57 ggC/ggT 0 -ZNF672 UCSF GRCh37 1 249142351 249142351 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 24 32 0 ENST00000306562.3:c.878G>A p.Gly293Glu p.G293E ENST00000306562 NM_024836.1 293 gGg/gAg 0 -ZNF691 UCSF GRCh37 1 43315411 43315411 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 103 201 0 ENST00000397044.3:c.82G>A p.Glu28Lys p.E28K ENST00000397044 28 Gag/Aag 0 -ZNF77 UCSF GRCh37 19 2936675 2936675 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 78 66 113 0 ENST00000314531.4:c.158G>A p.Gly53Glu p.G53E ENST00000314531 NM_021217.2 53 gGa/gAa 0 -ZNF778 UCSF GRCh37 16 89294114 89294114 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 158 124 264 0 ENST00000433976.2:c.1334G>A p.Gly445Glu p.G445E ENST00000433976 NM_001201407.1 445 gGa/gAa 0 -ZNF800 UCSF GRCh37 7 127014204 127014204 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 172 108 250 0 ENST00000265827.3:c.1186G>A p.Gly396Ser p.G396S ENST00000265827 NM_176814.3 396 Ggc/Agc 0 -ZNF804B UCSF GRCh37 7 88964016 88964016 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 76 190 0 ENST00000333190.4:c.1720G>A p.Glu574Lys p.E574K ENST00000333190 NM_181646.2 574 Gaa/Aaa 0 -ZNF836 UCSF GRCh37 19 52660411 52660411 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 227 163 330 0 ENST00000597252.1:c.525C>T p.Ser175= p.S175= ENST00000597252 175 tcC/tcT 0 -ZNF846 UCSF GRCh37 19 9868417 9868417 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 87 167 0 ENST00000397902.2:c.1336G>A p.Gly446Arg p.G446R ENST00000397902 NM_001077624.1 446 Gga/Aga 0 -ZNF846 UCSF GRCh37 19 9868865 9868865 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 117 97 197 0 ENST00000397902.2:c.888C>T p.Tyr296= p.Y296= ENST00000397902 NM_001077624.1 296 taC/taT 0 -ZNF862 UCSF GRCh37 7 149558596 149558596 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 24 58 0 ENST00000223210.4:c.2347G>A p.Asp783Asn p.D783N ENST00000223210 NM_001099220.1 783 Gat/Aat 0 -ZNHIT3 UCSF GRCh37 17 34842624 34842624 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 65 83 0 ENST00000225410.4:c.81G>A p.Val27= p.V27= ENST00000225410 NM_004773.3 27 gtG/gtA 0 -ZPBP UCSF GRCh37 7 49977191 49977191 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 125 78 171 0 ENST00000046087.2:c.989C>T p.Pro330Leu p.P330L ENST00000046087 NM_007009.2 330 cCc/cTc 0 -ZSCAN10 UCSF GRCh37 16 3142133 3142133 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 28 91 0 ENST00000252463.2:c.416C>T p.Pro139Leu p.P139L ENST00000252463 NM_032805.1 139 cCg/cTg 0 -ZSCAN12 UCSF GRCh37 6 28358508 28358508 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 75 184 0 ENST00000361028.1:c.1559C>T p.Thr520Ile p.T520I ENST00000361028 520 aCt/aTt 0 -ZSCAN2 UCSF GRCh37 15 85164774 85164774 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 69 135 0 ENST00000448803.2:c.1348G>A p.Val450Met p.V450M ENST00000448803 NM_181877.3 450 Gtg/Atg 0 -ZSWIM1 UCSF GRCh37 20 44512582 44512582 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 57 92 0 ENST00000372520.1:c.1351G>A p.Gly451Ser p.G451S ENST00000372520 451 Ggt/Agt 0 -ZSWIM2 UCSF GRCh37 2 187702039 187702039 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 145 89 204 0 ENST00000295131.2:c.737G>A p.Cys246Tyr p.C246Y ENST00000295131 NM_182521.2 246 tGt/tAt 0 -ZWILCH UCSF GRCh37 15 66807978 66807978 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 57 134 0 ENST00000307897.5:c.316G>A p.Ala106Thr p.A106T ENST00000307897 NM_017975.3 106 Gca/Aca 0 -ZYG11B UCSF GRCh37 1 53250719 53250719 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 80 49 111 0 ENST00000294353.6:c.1263C>T p.His421= p.H421= ENST00000294353 NM_024646.2 421 caC/caT 0 -ATRX UCSF GRCh37 X 76845402 76845403 + frameshift_variant Frame_Shift_Del DEL AA AA - NOVEL P21_Pri Untested WXS Illumina HiSeq 36 0 ENST00000373344.5:c.6118_6119del p.Phe2040GlnfsTer11 p.F2040Qfs*11 ENST00000373344 NM_000489.3 2040 TTc/c 0 -CAPN12 UCSF GRCh37 19 39228950 39228950 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 10 8 53 0 ENST00000328867.4:c.928G>A p.Asp310Asn p.D310N ENST00000328867 NM_144691.3 310 Gat/Aat 0 -CDC16 UCSF GRCh37 13 115002355 115002355 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 74 58 95 0 ENST00000356221.3:c.185C>T p.Ser62Leu p.S62L ENST00000356221 62 tCa/tTa 0 -CDKN1B UCSF GRCh37 12 12870849 12870849 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P21_Pri somatic WXS Sanger Illumina HiSeq 186 0 ENST00000228872.4:c.78del p.Ser27ArgfsTer15 p.S27Rfs*15 ENST00000228872 NM_004064.3 26 Ccc/cc 0 -CENPE UCSF GRCh37 4 104066758 104066758 + synonymous_variant Silent SNP C C G NOVEL P21_Pri Untested WXS Illumina HiSeq 134 17 239 0 ENST00000265148.3:c.4494G>C p.Val1498= p.V1498= ENST00000265148 NM_001813.2 1498 gtG/gtC 0 -COL6A3 UCSF GRCh37 2 238289888 238289888 + synonymous_variant Silent SNP G G A NOVEL P21_Pri Untested WXS Illumina HiSeq 130 32 303 0 ENST00000295550.4:c.1567C>T p.Leu523= p.L523= ENST00000295550 NM_004369.3 523 Ctg/Ttg 0 -DENND2D UCSF GRCh37 1 111740573 111740573 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 40 20 48 0 ENST00000357640.4:c.395G>A p.Ser132Asn p.S132N ENST00000357640 NM_024901.4 132 aGc/aAc 0 -HIST1H2AH UCSF GRCh37 6 27115070 27115070 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Pri Untested WXS Illumina HiSeq 100 56 280 0 ENST00000377459.1:c.163G>C p.Val55Leu p.V55L ENST00000377459 NM_080596.2 55 Gtg/Ctg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 55 41 126 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -INPPL1 UCSF GRCh37 11 71948227 71948227 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Pri Untested WXS Illumina HiSeq 96 56 223 0 ENST00000298229.2:c.2939G>C p.Ser980Thr p.S980T ENST00000298229 NM_001567.3 980 aGc/aCc 0 -KDM5A UCSF GRCh37 12 416215 416215 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Pri Untested WXS Illumina HiSeq 275 110 339 0 ENST00000399788.2:c.3971T>C p.Val1324Ala p.V1324A ENST00000399788 NM_001042603.1 1324 gTg/gCg 0 -KIAA0020 UCSF GRCh37 9 2837245 2837245 + missense_variant Missense_Mutation SNP T T A NOVEL P21_Pri Untested WXS Illumina HiSeq 223 235 542 0 ENST00000397885.2:c.239A>T p.Asn80Ile p.N80I ENST00000397885 NM_014878.4 80 aAc/aTc 0 -KIF6 UCSF GRCh37 6 39563952 39563952 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Pri Untested WXS Illumina HiSeq 61 30 98 0 ENST00000287152.7:c.724C>T p.Arg242Ter p.R242* ENST00000287152 NM_145027.4 242 Cga/Tga 0 -LTB4R UCSF GRCh37 14 24785606 24785606 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 15 6 21 0 ENST00000345363.3:c.749C>T p.Ala250Val p.A250V ENST00000345363 250 gCc/gTc 0 -NBPF10 UCSF GRCh37 1 145327548 145327548 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Pri Untested WXS Illumina HiSeq 47 11 17 0 ENST00000342960.5:c.4105A>G p.Asn1369Asp p.N1369D ENST00000342960 NM_001039703.5 1369 Aat/Gat 0 -NECAP2 UCSF GRCh37 1 16767274 16767274 + synonymous_variant Silent SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 45 8 103 0 ENST00000337132.5:c.18C>T p.Tyr6= p.Y6= ENST00000337132 NM_018090.4 6 taC/taT 0 -NPY UCSF GRCh37 7 24324899 24324899 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Pri Untested WXS Illumina HiSeq 39 19 106 0 ENST00000242152.2:c.40C>G p.Leu14Val p.L14V ENST00000242152 NM_000905.3 14 Ctc/Gtc 0 -PIK3AP1 UCSF GRCh37 10 98405415 98405415 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Pri somatic WXS Sanger Illumina HiSeq 67 16 144 0 ENST00000339364.5:c.1190C>T p.Thr397Met p.T397M ENST00000339364 NM_152309.2 397 aCg/aTg 0 -RAP1GAP2 UCSF GRCh37 17 2908700 2908700 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Pri Untested WXS Illumina HiSeq 216 115 544 0 ENST00000254695.8:c.1238G>T p.Gly413Val p.G413V ENST00000254695 NM_015085.4 413 gGt/gTt 0 -SCAF4 UCSF GRCh37 21 33058004 33058004 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Pri Untested WXS Illumina HiSeq 34 23 62 0 ENST00000286835.7:c.2086C>T p.Gln696Ter p.Q696* ENST00000286835 NM_020706.2 696 Cag/Tag 0 -SPTBN4 UCSF GRCh37 19 41019235 41019235 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Pri Untested WXS Illumina HiSeq 14 5 24 0 ENST00000352632.3:c.2539C>A p.Pro847Thr p.P847T ENST00000352632 847 Cca/Aca 0 -TBX2 UCSF GRCh37 17 59479224 59479224 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Pri Untested WXS Illumina HiSeq 52 8 116 0 ENST00000240328.3:c.575G>T p.Ser192Ile p.S192I ENST00000240328 NM_005994.3 192 aGc/aTc 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Pri somatic WXS Sanger Illumina HiSeq 52 40 129 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TP53 UCSF GRCh37 17 7578388 7578388 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Pri Untested WXS Illumina HiSeq 46 31 127 0 ENST00000269305.4:c.542G>C p.Arg181Pro p.R181P ENST00000269305 NM_001126112.2 181 cGc/cCc 0 -TRDN UCSF GRCh37 6 123824996 123824996 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P21_Pri Untested WXS Illumina HiSeq 29 0 ENST00000334268.4:c.661del p.Glu221LysfsTer2 p.E221Kfs*2 ENST00000334268 221 Gaa/aa 0 -UNC5B UCSF GRCh37 10 73051501 73051501 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Pri Untested WXS Illumina HiSeq 32 7 88 0 ENST00000335350.6:c.1607G>C p.Gly536Ala p.G536A ENST00000335350 NM_170744.4 536 gGc/gCc 0 -UNC5B UCSF GRCh37 10 73051475 73051475 + synonymous_variant Silent SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 51 9 104 0 ENST00000335350.6:c.1581C>T p.Ala527= p.A527= ENST00000335350 NM_170744.4 527 gcC/gcT 0 -A2ML1 UCSF GRCh37 12 9001452 9001452 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 368 58 422 0 ENST00000299698.7:c.1970G>A p.Arg657His p.R657H ENST00000299698 NM_144670.4 657 cGt/cAt 0 -AADACL3 UCSF GRCh37 1 12785370 12785370 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 241 63 313 0 ENST00000359318.5:c.460G>A p.Asp154Asn p.D154N ENST00000359318 NM_001103170.1 154 Gat/Aat 0 -ABCB4 UCSF GRCh37 7 87068997 87068997 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 101 39 179 0 ENST00000265723.4:c.1717G>T p.Ala573Ser p.A573S ENST00000265723 NM_000443.3 573 Gca/Tca 0 -ABCC1 UCSF GRCh37 16 16184294 16184294 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 48 11 72 0 ENST00000399410.3:c.2493C>T p.Tyr831= p.Y831= ENST00000399410 NM_004996.3 831 taC/taT 0 -ABR UCSF GRCh37 17 995003 995003 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 135 26 188 1 ENST00000302538.5:c.433G>A p.Asp145Asn p.D145N ENST00000302538 NM_021962.3 145 Gac/Aac 0 -ABR UCSF GRCh37 17 914089 914089 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 117 28 181 0 ENST00000302538.5:c.2116C>T p.Leu706= p.L706= ENST00000302538 NM_021962.3 706 Ctg/Ttg 0 -ACACA UCSF GRCh37 17 35598915 35598915 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 109 22 118 0 ENST00000353139.5:c.2986G>A p.Glu996Lys p.E996K ENST00000353139 NM_198834.1 996 Gaa/Aaa 0 -ACBD4 UCSF GRCh37 17 43214454 43214454 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 74 17 110 0 ENST00000376955.4:c.363G>A p.Gln121= p.Q121= ENST00000376955 NM_001135707.1 121 caG/caA 0 -ACE UCSF GRCh37 17 61574338 61574338 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 34 6 49 0 ENST00000290866.4:c.3683C>T p.Pro1228Leu p.P1228L ENST00000290866 NM_000789.3 1228 cCg/cTg 0 -ACO1 UCSF GRCh37 9 32431790 32431790 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 26 127 0 ENST00000309951.6:c.1800G>A p.Glu600= p.E600= ENST00000309951 NM_002197.2 600 gaG/gaA 0 -ACRC UCSF GRCh37 X 70832774 70832774 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 43 7 46 0 ENST00000373695.1:c.2018C>T p.Ser673Phe p.S673F ENST00000373695 673 tCt/tTt 0 -ACTL7B UCSF GRCh37 9 111617807 111617807 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 84 55 151 0 ENST00000374667.3:c.404G>A p.Arg135His p.R135H ENST00000374667 NM_006686.3 135 cGc/cAc 0 -ACTR1A UCSF GRCh37 10 104241629 104241629 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 126 39 258 0 ENST00000369905.4:c.952G>A p.Val318Met p.V318M ENST00000369905 NM_005736.3 318 Gtg/Atg 0 -ACTR8 UCSF GRCh37 3 53916017 53916017 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 14 6 34 0 ENST00000335754.3:c.112T>C p.Ser38Pro p.S38P ENST00000335754 NM_022899.4 38 Tcg/Ccg 0 -ADAMTS15 UCSF GRCh37 11 130318956 130318956 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 27 19 93 0 ENST00000299164.2:c.88C>T p.Arg30Ter p.R30* ENST00000299164 NM_139055.2 30 Cga/Tga 0 -ADAP1 UCSF GRCh37 7 938844 938844 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 78 15 142 0 ENST00000265846.5:c.922G>T p.Val308Leu p.V308L ENST00000265846 NM_006869.2 308 Gtg/Ttg 0 -ADCY9 UCSF GRCh37 16 4016763 4016763 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 280 79 526 0 ENST00000294016.3:c.3075G>A p.Arg1025= p.R1025= ENST00000294016 NM_001116.3 1025 cgG/cgA 0 -ADNP UCSF GRCh37 20 49509195 49509195 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 194 60 286 0 ENST00000349014.3:c.2056C>T p.His686Tyr p.H686Y ENST00000349014 NM_001282532.1 686 Cac/Tac 0 -AGAP3 UCSF GRCh37 7 150839618 150839618 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 85 10 107 0 ENST00000397238.2:c.2170C>T p.Pro724Ser p.P724S ENST00000397238 NM_031946.5 724 Cct/Tct 0 -AGBL1 UCSF GRCh37 15 87531263 87531263 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 412 96 492 0 ENST00000441037.2:c.3129C>T p.Tyr1043= p.Y1043= ENST00000441037 NM_152336.2 1043 taC/taT 0 -AGBL3 UCSF GRCh37 7 134719029 134719029 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 121 37 195 0 ENST00000436302.2:c.687C>T p.Thr229= p.T229= ENST00000436302 NM_178563.3 229 acC/acT 0 -AGPAT5 UCSF GRCh37 8 6605321 6605321 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 114 30 123 0 ENST00000285518.6:c.717G>A p.Gly239= p.G239= ENST00000285518 NM_018361.3 239 ggG/ggA 0 -AGTR1 UCSF GRCh37 3 148458912 148458912 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 117 37 134 0 ENST00000349243.3:c.90G>A p.Met30Ile p.M30I ENST00000349243 NM_000685.4 30 atG/atA 0 -AHNAK UCSF GRCh37 11 62300649 62300649 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 125 19 164 0 ENST00000378024.4:c.1240G>A p.Glu414Lys p.E414K ENST00000378024 NM_001620.2 414 Gaa/Aaa 0 -AHNAK2 UCSF GRCh37 14 105414940 105414940 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 400 153 852 0 ENST00000333244.5:c.6848G>A p.Ser2283Asn p.S2283N ENST00000333244 NM_138420.2 2283 aGc/aAc 0 -AHNAK2 UCSF GRCh37 14 105418590 105418590 + synonymous_variant Silent SNP G G C NOVEL P21_Rec Untested WXS Illumina HiSeq 354 125 656 0 ENST00000333244.5:c.3198C>G p.Leu1066= p.L1066= ENST00000333244 NM_138420.2 1066 ctC/ctG 0 -AKAP13 UCSF GRCh37 15 86284312 86284312 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 30 12 71 0 ENST00000394518.2:c.7644C>T p.Asp2548= p.D2548= ENST00000394518 NM_007200.4 2548 gaC/gaT 0 -AKAP6 UCSF GRCh37 14 33046434 33046434 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 120 23 151 0 ENST00000280979.4:c.2455C>T p.Leu819= p.L819= ENST00000280979 NM_004274.4 819 Ctg/Ttg 0 -AKAP9 UCSF GRCh37 7 91631287 91631287 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 78 11 113 0 ENST00000356239.3:c.2056G>A p.Asp686Asn p.D686N ENST00000356239 NM_147185.2 686 Gac/Aac 0 -AKT2 UCSF GRCh37 19 40747844 40747844 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 48 17 84 0 ENST00000392038.2:c.573+1G>A p.X191_splice ENST00000392038 NM_001626.4 0 -ALDH3B1 UCSF GRCh37 11 67790122 67790122 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 64 11 95 0 ENST00000342456.6:c.895G>A p.Gly299Arg p.G299R ENST00000342456 NM_001030010.1 299 Ggg/Agg 0 -ALDH6A1 UCSF GRCh37 14 74539242 74539242 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 88 30 154 0 ENST00000553458.1:c.184C>T p.Pro62Ser p.P62S ENST00000553458 NM_001278593.1 62 Cca/Tca 0 -ALG12 UCSF GRCh37 22 50307094 50307094 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 160 39 196 0 ENST00000330817.6:c.234C>T p.Ser78= p.S78= ENST00000330817 NM_024105.3 78 tcC/tcT 0 -ALG13 UCSF GRCh37 X 111003111 111003111 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 100 80 172 1 ENST00000394780.3:c.3298C>T p.Pro1100Ser p.P1100S ENST00000394780 NM_001257231.1 1100 Cca/Tca 0 -ALK UCSF GRCh37 2 29430102 29430102 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 54 22 85 1 ENST00000389048.3:c.3873G>A p.Leu1291= p.L1291= ENST00000389048 NM_004304.4 1291 ctG/ctA 0 -ALMS1 UCSF GRCh37 2 73786249 73786249 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 68 12 112 0 ENST00000264448.6:c.10361C>T p.Ser3454Phe p.S3454F ENST00000264448 NM_015120.4 3454 tCc/tTc 0 -ALOX15 UCSF GRCh37 17 4542834 4542834 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 54 12 77 1 ENST00000293761.3:c.228G>A p.Trp76Ter p.W76* ENST00000293761 NM_001140.3 76 tgG/tgA 0 -ALOX5 UCSF GRCh37 10 45907762 45907762 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 91 23 138 0 ENST00000374391.2:c.554+1G>A p.X185_splice ENST00000374391 NM_000698.3 0 -ALS2 UCSF GRCh37 2 202589068 202589068 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 141 43 248 1 ENST00000264276.6:c.3462G>A p.Gln1154= p.Q1154= ENST00000264276 NM_020919.3 1154 caG/caA 0 -ALS2 UCSF GRCh37 2 202598137 202598137 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 40 18 49 0 ENST00000264276.6:c.2442G>A p.Glu814= p.E814= ENST00000264276 NM_020919.3 814 gaG/gaA 0 -AMOTL2 UCSF GRCh37 3 134078188 134078188 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 78 13 122 0 ENST00000422605.2:c.2041G>A p.Gly681Ser p.G681S ENST00000422605 681 Ggc/Agc 0 -ANGPTL1 UCSF GRCh37 1 178822772 178822772 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 155 41 179 0 ENST00000234816.2:c.974C>T p.Thr325Ile p.T325I ENST00000234816 NM_004673.3 325 aCa/aTa 0 -ANK1 UCSF GRCh37 8 41550641 41550641 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 96 31 120 0 ENST00000347528.4:c.3611C>T p.Thr1204Ile p.T1204I ENST00000347528 NM_020477.2 1204 aCc/aTc 0 -AP2A1 UCSF GRCh37 19 50304848 50304848 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 82 20 140 0 ENST00000359032.5:c.1755C>T p.Thr585= p.T585= ENST00000359032 NM_014203.2 585 acC/acT 0 -AP2B1 UCSF GRCh37 17 33984689 33984689 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 97 30 139 0 ENST00000312678.8:c.1868C>T p.Ser623Phe p.S623F ENST00000312678 NM_001030006.1 623 tCt/tTt 0 -AP3B1 UCSF GRCh37 5 77396850 77396850 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 22 3 19 0 ENST00000255194.6:c.2398-1G>A p.X800_splice ENST00000255194 0 -APC UCSF GRCh37 5 112174811 112174811 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 164 49 209 0 ENST00000257430.4:c.3520G>A p.Asp1174Asn p.D1174N ENST00000257430 NM_000038.5 1174 Gat/Aat 0 -ARHGAP15 UCSF GRCh37 2 144314015 144314015 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 159 43 262 0 ENST00000295095.6:c.964C>T p.Leu322= p.L322= ENST00000295095 NM_018460.3 322 Ctg/Ttg 0 -ARHGAP31 UCSF GRCh37 3 119134420 119134420 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 78 25 111 0 ENST00000264245.4:c.3644C>T p.Pro1215Leu p.P1215L ENST00000264245 NM_020754.2 1215 cCc/cTc 0 -ARHGAP32 UCSF GRCh37 11 128840445 128840445 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 107 26 157 0 ENST00000310343.9:c.4621G>A p.Gly1541Arg p.G1541R ENST00000310343 NM_001142685.1 1541 Gga/Aga 0 -ARHGEF2 UCSF GRCh37 1 155920170 155920170 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 101 33 160 1 ENST00000361247.4:c.2807G>A p.Arg936Gln p.R936Q ENST00000361247 NM_001162384.1 936 cGg/cAg 0 -ARL13A UCSF GRCh37 X 100240728 100240728 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 159 114 345 0 ENST00000450457.2:c.203C>T p.Ser68Phe p.S68F ENST00000450457 68 tCc/tTc 0 -ARMC5 UCSF GRCh37 16 31478036 31478036 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 16 3 22 0 ENST00000268314.4:c.2634C>T p.Pro878= p.P878= ENST00000268314 NM_001105247.1 878 ccC/ccT 0 -ARNT UCSF GRCh37 1 150788827 150788827 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 50 19 62 0 ENST00000358595.5:c.1858C>T p.Gln620Ter p.Q620* ENST00000358595 NM_178427.2 620 Cag/Tag 0 -ARPM1 UCSF GRCh37 3 169485464 169485464 + missense_variant Missense_Mutation SNP G G A snp132_rs55656133 P21_Rec Untested WXS Illumina HiSeq 237 56 287 1 ENST00000330368.2:c.875C>T p.Ser292Phe p.S292F ENST00000330368 NM_032487.4 292 tCc/tTc 0 -ASCC3 UCSF GRCh37 6 101247327 101247327 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 41 17 106 0 ENST00000369162.2:c.1249G>A p.Ala417Thr p.A417T ENST00000369162 NM_006828.2 417 Gca/Aca 0 -ASXL1 UCSF GRCh37 20 31024066 31024066 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 153 33 212 1 ENST00000375687.4:c.3551C>T p.Thr1184Ile p.T1184I ENST00000375687 NM_015338.5 1184 aCa/aTa 0 -ASXL1 UCSF GRCh37 20 31023784 31023784 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 224 77 359 0 ENST00000375687.4:c.3269G>A p.Arg1090Lys p.R1090K ENST00000375687 NM_015338.5 1090 aGa/aAa 0 -ATG4A UCSF GRCh37 X 107381120 107381120 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 27 183 275 0 ENST00000372232.3:c.634G>A p.Gly212Ser p.G212S ENST00000372232 NM_052936.3 212 Ggc/Agc 0 -ATP13A4 UCSF GRCh37 3 193156272 193156272 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 46 30 122 0 ENST00000342695.4:c.2664C>T p.His888= p.H888= ENST00000342695 NM_032279.2 888 caC/caT 0 -ATP1A2 UCSF GRCh37 1 160105700 160105700 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 221 33 268 1 ENST00000361216.3:c.2356C>T p.Pro786Ser p.P786S ENST00000361216 NM_000702.3 786 Ccc/Tcc 0 -ATP5L UCSF GRCh37 11 118279715 118279715 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 15 9 35 0 ENST00000300688.3:c.214G>A p.Glu72Lys p.E72K ENST00000300688 NM_006476.4 72 Gaa/Aaa 0 -ATP5S UCSF GRCh37 14 50789230 50789230 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 97 12 167 0 ENST00000311459.7:c.154G>A p.Val52Met p.V52M ENST00000311459 NM_001003803.2 52 Gtg/Atg 0 -ATP6V1B1 UCSF GRCh37 2 71187101 71187101 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 71 32 159 0 ENST00000234396.4:c.478C>T p.Pro160Ser p.P160S ENST00000234396 NM_001692.3 160 Ccc/Tcc 0 -ATRX UCSF GRCh37 X 76845402 76845403 + frameshift_variant Frame_Shift_Del DEL AA AA - NOVEL P21_Rec Untested WXS Illumina HiSeq 23 0 ENST00000373344.5:c.6118_6119del p.Phe2040GlnfsTer11 p.F2040Qfs*11 ENST00000373344 NM_000489.3 2040 TTc/c 0 -B4GALNT1 UCSF GRCh37 12 58024853 58024853 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 131 55 285 0 ENST00000341156.4:c.400G>A p.Asp134Asn p.D134N ENST00000341156 NM_001478.4 134 Gac/Aac 0 -NCR3LG1 UCSF GRCh37 11 17388734 17388734 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 94 57 286 1 ENST00000338965.4:c.600C>T p.Ile200= p.I200= ENST00000338965 NM_001202439.1 200 atC/atT 0 -BAAT UCSF GRCh37 9 104130406 104130406 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 52 20 78 0 ENST00000259407.2:c.665C>T p.Pro222Leu p.P222L ENST00000259407 NM_001127610.1 222 cCa/cTa 0 -BAG3 UCSF GRCh37 10 121429613 121429613 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 42 27 165 0 ENST00000369085.3:c.431C>T p.Thr144Ile p.T144I ENST00000369085 NM_004281.3 144 aCc/aTc 0 -BAHCC1 UCSF GRCh37 17 79410157 79410157 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 30 9 61 0 ENST00000307745.7:c.1782G>A p.Met594Ile p.M594I ENST00000307745 594 atG/atA 0 -BARD1 UCSF GRCh37 2 215645709 215645709 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 103 28 196 0 ENST00000260947.4:c.889G>A p.Val297Ile p.V297I ENST00000260947 NM_000465.2 297 Gta/Ata 0 -BARD1 UCSF GRCh37 2 215593469 215593469 + synonymous_variant Silent SNP G G A snp132_rs13389324 P21_Rec Untested WXS Illumina HiSeq 78 27 133 0 ENST00000260947.4:c.2265C>T p.Val755= p.V755= ENST00000260947 NM_000465.2 755 gtC/gtT 0 -BATF2 UCSF GRCh37 11 64756758 64756758 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 65 16 85 0 ENST00000301887.4:c.668C>T p.Pro223Leu p.P223L ENST00000301887 NM_138456.3 223 cCc/cTc 0 -BBS1 UCSF GRCh37 11 66283345 66283345 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 88 18 120 0 ENST00000318312.7:c.532G>A p.Glu178Lys p.E178K ENST00000318312 NM_024649.4 178 Gag/Aag 0 -BCR UCSF GRCh37 22 23523778 23523778 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 96 28 158 0 ENST00000305877.8:c.631G>A p.Glu211Lys p.E211K ENST00000305877 NM_004327.3 211 Gag/Aag 0 -BDH2 UCSF GRCh37 4 104016418 104016418 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 57 37 120 0 ENST00000296424.4:c.93C>T p.Ala31= p.A31= ENST00000296424 NM_020139.3 31 gcC/gcT 0 -BICC1 UCSF GRCh37 10 60556125 60556125 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 108 29 191 0 ENST00000373886.3:c.1205G>A p.Arg402Gln p.R402Q ENST00000373886 NM_001080512.1 402 cGa/cAa 0 -BIRC6 UCSF GRCh37 2 32656086 32656086 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 147 49 324 0 ENST00000421745.2:c.3176C>T p.Pro1059Leu p.P1059L ENST00000421745 NM_016252.3 1059 cCt/cTt 0 -BMI1 UCSF GRCh37 10 22615405 22615405 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 257 53 231 0 ENST00000376663.3:c.27C>T p.Ile9= p.I9= ENST00000376663 NM_005180.8 9 atC/atT 0 -BOD1L UCSF GRCh37 4 13605438 13605438 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 404 107 475 1 ENST00000040738.5:c.3086G>A p.Ser1029Asn p.S1029N ENST00000040738 NM_148894.2 1029 aGt/aAt 0 -BPNT1 UCSF GRCh37 1 220236275 220236275 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 107 26 125 0 ENST00000322067.7:c.496G>A p.Gly166Arg p.G166R ENST00000322067 NM_006085.4 166 Ggg/Agg 0 -BPTF UCSF GRCh37 17 65850839 65850839 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 114 18 112 0 ENST00000321892.4:c.1397G>A p.Ser466Asn p.S466N ENST00000321892 466 aGt/aAt 0 -BRCA2 UCSF GRCh37 13 32907452 32907452 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 35 4 78 0 ENST00000380152.3:c.1837C>T p.Leu613= p.L613= ENST00000380152 613 Cta/Tta 0 -BRIP1 UCSF GRCh37 17 59871087 59871087 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 68 22 91 0 ENST00000259008.2:c.1344G>A p.Trp448Ter p.W448* ENST00000259008 NM_032043.2 448 tgG/tgA 0 -BTN2A1 UCSF GRCh37 6 26468761 26468761 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 485 74 352 1 ENST00000312541.5:c.1568C>T p.Thr523Ile p.T523I ENST00000312541 NM_007049.4 523 aCc/aTc 0 -BTNL3 UCSF GRCh37 5 180419994 180419994 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 77 61 272 0 ENST00000342868.6:c.231G>A p.Gln77= p.Q77= ENST00000342868 NM_197975.2 77 caG/caA 0 -BTNL8 UCSF GRCh37 5 180335635 180335635 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 50 26 187 0 ENST00000340184.4:c.99G>A p.Gly33= p.G33= ENST00000340184 NM_001040462.2 33 ggG/ggA 0 -BUB3 UCSF GRCh37 10 124919988 124919988 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 60 45 212 0 ENST00000368865.4:c.483G>A p.Val161= p.V161= ENST00000368865 NM_004725.3 161 gtG/gtA 0 -C11orf30 UCSF GRCh37 11 76207340 76207340 + missense_variant Missense_Mutation SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 171 61 229 0 ENST00000334736.3:c.1190T>C p.Leu397Pro p.L397P ENST00000334736 NM_020193.3 397 cTt/cCt 0 -C11orf91 UCSF GRCh37 11 33719981 33719981 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 29 21 101 0 ENST00000379011.4:c.576C>T p.Leu192= p.L192= ENST00000379011 NM_001166692.1 192 ctC/ctT 0 -C12orf4 UCSF GRCh37 12 4609359 4609359 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 149 21 121 0 ENST00000261250.3:c.1385C>T p.Thr462Ile p.T462I ENST00000261250 NM_020374.2 462 aCc/aTc 0 -C15orf43 UCSF GRCh37 15 45258369 45258369 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 29 10 30 0 ENST00000340827.3:c.362C>T p.Thr121Ile p.T121I ENST00000340827 NM_152448.2 121 aCa/aTa 0 -C17orf101 UCSF GRCh37 17 80373330 80373330 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 165 47 221 0 ENST00000313056.5:c.248G>A p.Gly83Glu p.G83E ENST00000313056 NM_024648.2 83 gGg/gAg 0 -FIRRM UCSF GRCh37 1 169819407 169819407 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 42 8 44 0 ENST00000286031.6:c.2165G>A p.Gly722Glu p.G722E ENST00000286031 NM_018186.2 722 gGa/gAa 0 -C1QC UCSF GRCh37 1 22974090 22974090 + synonymous_variant Silent SNP C C G NOVEL P21_Rec Untested WXS Illumina HiSeq 182 59 340 0 ENST00000374637.1:c.552C>G p.Arg184= p.R184= ENST00000374637 184 cgC/cgG 0 -C20orf194 UCSF GRCh37 20 3236766 3236766 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 120 25 171 0 ENST00000252032.9:c.3147C>T p.Asp1049= p.D1049= ENST00000252032 NM_001009984.2 1049 gaC/gaT 0 -C2CD3 UCSF GRCh37 11 73785467 73785467 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 125 28 149 0 ENST00000334126.7:c.4782C>T p.Leu1594= p.L1594= ENST00000334126 NM_001286577.1 1594 ctC/ctT 0 -C2orf18 UCSF GRCh37 2 26997143 26997143 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 82 19 138 0 ENST00000344420.5:c.102G>A p.Glu34= p.E34= ENST00000344420 NM_017877.3 34 gaG/gaA 0 -C3orf39 UCSF GRCh37 3 43122166 43122166 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 105 53 208 1 ENST00000344697.2:c.758C>A p.Pro253Gln p.P253Q ENST00000344697 NM_032806.5 253 cCg/cAg 0 -C3orf39 UCSF GRCh37 3 43121571 43121571 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 67 33 131 0 ENST00000344697.2:c.1353G>A p.Lys451= p.K451= ENST00000344697 NM_032806.5 451 aaG/aaA 0 -C6orf138 UCSF GRCh37 6 47847449 47847449 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 521 67 388 0 ENST00000339488.4:c.1131G>A p.Leu377= p.L377= ENST00000339488 NM_001013732.3 377 ttG/ttA 0 -C9orf172 UCSF GRCh37 9 139739679 139739679 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 27 10 33 0 ENST00000436881.1:c.813C>T p.Pro271= p.P271= ENST00000436881 NM_001080482.2 271 ccC/ccT 0 -C9orf84 UCSF GRCh37 9 114490030 114490030 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 161 33 146 0 ENST00000318737.4:c.1525G>A p.Glu509Lys p.E509K ENST00000318737 NM_173521.3 509 Gaa/Aaa 0 -C9orf96 UCSF GRCh37 9 136270002 136270002 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 98 28 166 0 ENST00000371957.3:c.1822C>T p.Pro608Ser p.P608S ENST00000371957 NM_153710.4 608 Ccg/Tcg 0 -CA7 UCSF GRCh37 16 66886645 66886645 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 67 10 98 0 ENST00000338437.2:c.547C>T p.Pro183Ser p.P183S ENST00000338437 NM_005182.2 183 Ccc/Tcc 0 -CAD UCSF GRCh37 2 27447343 27447343 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 110 17 152 0 ENST00000264705.4:c.1239C>T p.Asp413= p.D413= ENST00000264705 NM_004341.3 413 gaC/gaT 0 -CAMKK2 UCSF GRCh37 12 121711942 121711942 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 19 9 23 0 ENST00000324774.5:c.388C>T p.Pro130Ser p.P130S ENST00000324774 NM_006549.3 130 Ccc/Tcc 0 -CAP2 UCSF GRCh37 6 17551772 17551772 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 215 34 194 0 ENST00000229922.2:c.1287C>T p.Asp429= p.D429= ENST00000229922 NM_006366.2 429 gaC/gaT 0 -CAPN12 UCSF GRCh37 19 39228950 39228950 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 31 22 53 0 ENST00000328867.4:c.928G>A p.Asp310Asn p.D310N ENST00000328867 NM_144691.3 310 Gat/Aat 0 -CAPN9 UCSF GRCh37 1 230891097 230891097 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 86 20 118 0 ENST00000271971.2:c.228C>T p.Asn76= p.N76= ENST00000271971 NM_006615.2 76 aaC/aaT 0 -CARD6 UCSF GRCh37 5 40841605 40841605 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 107 39 144 0 ENST00000254691.5:c.121G>A p.Glu41Lys p.E41K ENST00000254691 NM_032587.3 41 Gag/Aag 0 -CASD1 UCSF GRCh37 7 94168278 94168278 + splice_acceptor_variant Splice_Site SNP G G A snp132_rs115186017 P21_Rec Untested WXS Illumina HiSeq 51 21 65 0 ENST00000297273.4:c.1267-1G>A p.X423_splice ENST00000297273 NM_022900.4 0 -CASKIN2 UCSF GRCh37 17 73499007 73499007 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 22 9 57 0 ENST00000321617.3:c.2148C>T p.Ala716= p.A716= ENST00000321617 NM_020753.4 716 gcC/gcT 0 -CASZ1 UCSF GRCh37 1 10720283 10720283 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 77 31 103 0 ENST00000377022.3:c.816C>T p.Thr272= p.T272= ENST00000377022 NM_001079843.2 272 acC/acT 0 -CAT UCSF GRCh37 11 34472578 34472578 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 116 63 275 0 ENST00000241052.4:c.282C>T p.Tyr94= p.Y94= ENST00000241052 NM_001752.3 94 taC/taT 0 -CBFA2T2 UCSF GRCh37 20 32199107 32199107 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 168 51 229 0 ENST00000346541.3:c.413G>A p.Gly138Glu p.G138E ENST00000346541 NM_005093.3 138 gGg/gAg 0 -CCDC108 UCSF GRCh37 2 219888018 219888018 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 17 6 45 0 ENST00000341552.5:c.2731C>T p.Leu911= p.L911= ENST00000341552 NM_194302.3 911 Ctg/Ttg 0 -CCDC132 UCSF GRCh37 7 92979301 92979301 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 16 117 0 ENST00000305866.5:c.2419G>A p.Glu807Lys p.E807K ENST00000305866 NM_017667.3 807 Gaa/Aaa 0 -CCDC135 UCSF GRCh37 16 57764849 57764849 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 106 31 159 0 ENST00000360716.3:c.2398C>T p.Gln800Ter p.Q800* ENST00000360716 800 Cag/Tag 0 -CCDC86 UCSF GRCh37 11 60609982 60609982 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 135 28 164 0 ENST00000227520.5:c.385C>T p.Gln129Ter p.Q129* ENST00000227520 NM_024098.3 129 Cag/Tag 0 -CCDC97 UCSF GRCh37 19 41825651 41825651 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 52 16 76 0 ENST00000269967.3:c.675C>T p.Leu225= p.L225= ENST00000269967 NM_052848.1 225 ctC/ctT 0 -CCMT-ND2 UCSF GRCh37 12 4385225 4385225 + splice_region_variant,non_coding_transcript_exon_variant Splice_Region SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 143 24 143 0 ENST00000539135.1:n.126G>A p.X42_splice ENST00000539135 0 -CCNJ UCSF GRCh37 10 97816568 97816568 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 82 40 141 0 ENST00000265992.5:c.391G>A p.Glu131Lys p.E131K ENST00000265992 NM_019084.4 131 Gaa/Aaa 0 -CCT8 UCSF GRCh37 21 30439053 30439053 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 106 20 114 0 ENST00000286788.4:c.608G>A p.Arg203Lys p.R203K ENST00000286788 NM_006585.2 203 aGa/aAa 0 -CD163L1 UCSF GRCh37 12 7559158 7559158 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 251 61 322 0 ENST00000313599.3:c.1057C>T p.His353Tyr p.H353Y ENST00000313599 353 Cat/Tat 0 -CD1B UCSF GRCh37 1 158299756 158299756 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.006,1000g2011may_all_0.01772,snp132_rs62642467 P21_Rec Untested WXS Illumina HiSeq 354 95 446 0 ENST00000368168.3:c.493C>T p.Leu165= p.L165= ENST00000368168 NM_001764.2 165 Cta/Tta 0 -CD276 UCSF GRCh37 15 73995123 73995123 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 31 23 66 0 ENST00000318443.5:c.429G>A p.Ser143= p.S143= ENST00000318443 NM_001024736.1 143 tcG/tcA 0 -CDAN1 UCSF GRCh37 15 43023168 43023168 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 160 48 222 0 ENST00000356231.3:c.1962C>T p.Pro654= p.P654= ENST00000356231 NM_138477.2 654 ccC/ccT 0 -CDC16 UCSF GRCh37 13 115002355 115002355 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 42 18 95 0 ENST00000356221.3:c.185C>T p.Ser62Leu p.S62L ENST00000356221 62 tCa/tTa 0 -CDC40 UCSF GRCh37 6 110541060 110541060 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 33 37 158 0 ENST00000307731.1:c.1328G>A p.Arg443Lys p.R443K ENST00000307731 NM_015891.2 443 aGa/aAa 0 -CDC42EP1 UCSF GRCh37 22 37962634 37962634 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 76 21 106 0 ENST00000249014.4:c.278G>A p.Gly93Glu p.G93E ENST00000249014 NM_152243.2 93 gGg/gAg 0 -CDH11 UCSF GRCh37 16 64981800 64981800 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 180 50 266 0 ENST00000268603.4:c.2097G>A p.Glu699= p.E699= ENST00000268603 NM_001797.2 699 gaG/gaA 0 -CDH12 UCSF GRCh37 5 21752025 21752025 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 138 38 212 0 ENST00000382254.1:c.2206C>T p.Leu736= p.L736= ENST00000382254 NM_004061.3 736 Ctg/Ttg 0 -CDH23 UCSF GRCh37 10 73405665 73405665 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 80 28 200 0 ENST00000224721.6:c.1233G>A p.Gln411= p.Q411= ENST00000224721 NM_022124.5 411 caG/caA 0 -CDH23 UCSF GRCh37 10 73544108 73544108 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 66 29 160 0 ENST00000224721.6:c.5448G>A p.Arg1816= p.R1816= ENST00000224721 NM_022124.5 1816 cgG/cgA 0 -CDHR3 UCSF GRCh37 7 105672892 105672892 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 108 38 167 0 ENST00000317716.9:c.2407G>A p.Asp803Asn p.D803N ENST00000317716 NM_152750.4 803 Gat/Aat 0 -CDKN1B UCSF GRCh37 12 12870849 12870849 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 39 0 ENST00000228872.4:c.78del p.Ser27ArgfsTer15 p.S27Rfs*15 ENST00000228872 NM_004064.3 26 Ccc/cc 0 -CDKN2A UCSF GRCh37 9 21974770 21974770 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 12 0 ENST00000304494.5:c.57del p.Ala20ArgfsTer6 p.A20Rfs*6 ENST00000304494 NM_000077.4 19 gcC/gc 0 -CDON UCSF GRCh37 11 125851126 125851126 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 98 12 173 0 ENST00000392693.3:c.3094G>A p.Val1032Ile p.V1032I ENST00000392693 NM_001243597.1 1032 Gtt/Att 0 -CDX4 UCSF GRCh37 X 72667505 72667505 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 4 42 63 0 ENST00000373514.2:c.416C>T p.Thr139Met p.T139M ENST00000373514 NM_005193.1 139 aCg/aTg 0 -CELSR3 UCSF GRCh37 3 48696345 48696345 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 60 15 103 0 ENST00000164024.4:c.3723G>A p.Val1241= p.V1241= ENST00000164024 NM_001407.2 1241 gtG/gtA 0 -CENPF UCSF GRCh37 1 214819208 214819208 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 142 18 157 0 ENST00000366955.3:c.6295G>A p.Glu2099Lys p.E2099K ENST00000366955 NM_016343.3 2099 Gag/Aag 0 -CEP350 UCSF GRCh37 1 179961206 179961206 + missense_variant Missense_Mutation SNP A A T NOVEL P21_Rec Untested WXS Illumina HiSeq 36 7 42 0 ENST00000367607.3:c.245A>T p.Tyr82Phe p.Y82F ENST00000367607 NM_014810.4 82 tAc/tTc 0 -CEP72 UCSF GRCh37 5 620366 620366 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 92 21 133 0 ENST00000264935.5:c.393C>T p.Leu131= p.L131= ENST00000264935 NM_018140.3 131 ctC/ctT 0 -CEP78 UCSF GRCh37 9 80880305 80880305 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 113 29 154 0 ENST00000424347.2:c.1643C>T p.Thr548Ile p.T548I ENST00000424347 548 aCa/aTa 0 -CETN2 UCSF GRCh37 X 151997217 151997217 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 40 26 85 0 ENST00000370277.3:c.293C>T p.Ser98Phe p.S98F ENST00000370277 NM_004344.1 98 tCt/tTt 0 -CFHR5 UCSF GRCh37 1 196965270 196965270 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 156 38 189 0 ENST00000256785.4:c.909G>A p.Met303Ile p.M303I ENST00000256785 303 atG/atA 0 -CHCHD7 UCSF GRCh37 8 57129925 57129925 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 52 13 63 0 ENST00000355315.3:c.189G>A p.Val63= p.V63= ENST00000355315 NM_001011671.1 63 gtG/gtA 0 -CHD6 UCSF GRCh37 20 40162013 40162013 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 173 52 209 0 ENST00000373233.3:c.230C>T p.Thr77Ile p.T77I ENST00000373233 NM_032221.4 77 aCa/aTa 0 -CHD9 UCSF GRCh37 16 53357969 53357969 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 312 46 394 0 ENST00000398510.3:c.7856C>T p.Thr2619Ile p.T2619I ENST00000398510 2619 aCt/aTt 0 -CHEK2 UCSF GRCh37 22 29085187 29085187 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 122 30 260 0 ENST00000328354.6:c.1478G>A p.Arg493Lys p.R493K ENST00000328354 NM_007194.3 493 aGa/aAa 0 -CHI3L1 UCSF GRCh37 1 203151876 203151876 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 73 17 114 0 ENST00000255409.3:c.570C>T p.Asp190= p.D190= ENST00000255409 NM_001276.2 190 gaC/gaT 0 -CHMP7 UCSF GRCh37 8 23114047 23114047 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 226 58 359 0 ENST00000313219.7:c.732G>A p.Leu244= p.L244= ENST00000313219 244 ctG/ctA 0 -CHRM5 UCSF GRCh37 15 34356140 34356140 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Rec Untested WXS Illumina HiSeq 216 48 319 0 ENST00000383263.5:c.1222C>G p.Pro408Ala p.P408A ENST00000383263 NM_012125.3 408 Cca/Gca 0 -CHRNA1 UCSF GRCh37 2 175619138 175619138 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 70 25 142 0 ENST00000261007.5:c.424G>A p.Asp142Asn p.D142N ENST00000261007 NM_001039523.2 142 Gat/Aat 0 -CHST9 UCSF GRCh37 18 24604085 24604085 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 29 16 43 0 ENST00000581714.1:c.197G>A p.Arg66Lys p.R66K ENST00000581714 66 aGa/aAa 0 -CLCNKA UCSF GRCh37 1 16355325 16355325 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 79 21 123 0 ENST00000331433.4:c.1038C>T p.His346= p.H346= ENST00000331433 346 caC/caT 0 -CLEC6A UCSF GRCh37 12 8618156 8618156 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 160 25 169 0 ENST00000382073.3:c.300G>A p.Trp100Ter p.W100* ENST00000382073 NM_001007033.1 100 tgG/tgA 0 -CLK2 UCSF GRCh37 1 155233756 155233756 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 137 48 187 0 ENST00000368361.4:c.1302C>T p.Asn434= p.N434= ENST00000368361 434 aaC/aaT 0 -CLSPN UCSF GRCh37 1 36230067 36230067 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 136 26 100 1 ENST00000318121.3:c.382G>A p.Val128Met p.V128M ENST00000318121 NM_022111.3 128 Gtg/Atg 0 -CLSTN3 UCSF GRCh37 12 7285717 7285717 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 59 15 82 0 ENST00000266546.6:c.162C>T p.Asp54= p.D54= ENST00000266546 NM_014718.3 54 gaC/gaT 0 -CMAS UCSF GRCh37 12 22218154 22218154 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 210 34 190 0 ENST00000229329.2:c.1214G>A p.Cys405Tyr p.C405Y ENST00000229329 NM_018686.4 405 tGc/tAc 0 -CMYA5 UCSF GRCh37 5 79025325 79025325 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 193 47 194 0 ENST00000446378.2:c.737G>A p.Gly246Glu p.G246E ENST00000446378 NM_153610.3 246 gGa/gAa 0 -CNGA1 UCSF GRCh37 4 47951873 47951873 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 74 21 89 0 ENST00000358519.4:c.276G>A p.Val92= p.V92= ENST00000358519 92 gtG/gtA 0 -CNPY4 UCSF GRCh37 7 99722496 99722496 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 117 46 217 0 ENST00000262932.3:c.732C>T p.Asp244= p.D244= ENST00000262932 NM_152755.1 244 gaC/gaT 0 -CNR2 UCSF GRCh37 1 24201575 24201575 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 107 27 151 0 ENST00000374472.4:c.533C>T p.Pro178Leu p.P178L ENST00000374472 NM_001841.2 178 cCc/cTc 0 -CNTN6 UCSF GRCh37 3 1444021 1444021 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 75 29 127 0 ENST00000350110.2:c.2837G>A p.Arg946Lys p.R946K ENST00000350110 NM_014461.2 946 aGa/aAa 0 -CNTNAP1 UCSF GRCh37 17 40849300 40849300 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 85 16 109 0 ENST00000264638.4:c.3483C>T p.Tyr1161= p.Y1161= ENST00000264638 NM_003632.2 1161 taC/taT 0 -COG8 UCSF GRCh37 16 69366747 69366747 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 127 34 191 0 ENST00000306875.4:c.1452G>A p.Glu484= p.E484= ENST00000306875 NM_032382.4 484 gaG/gaA 0 -COL10A1 UCSF GRCh37 6 116442735 116442735 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 37 5 82 0 ENST00000243222.4:c.544C>T p.Pro182Ser p.P182S ENST00000243222 NM_000493.3 182 Cct/Tct 0 -COL1A1 UCSF GRCh37 17 48273995 48273995 + missense_variant Missense_Mutation SNP C C T snp132_rs72645334 P21_Rec Untested WXS Illumina HiSeq 370 93 491 0 ENST00000225964.5:c.841G>A p.Gly281Ser p.G281S ENST00000225964 NM_000088.3 281 Ggt/Agt 0 -COL5A3 UCSF GRCh37 19 10108817 10108817 + synonymous_variant Silent SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 270 59 364 0 ENST00000264828.3:c.1119A>G p.Gly373= p.G373= ENST00000264828 NM_015719.3 373 ggA/ggG 0 -COL6A2 UCSF GRCh37 21 47544812 47544812 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 66 17 80 0 ENST00000300527.4:c.1748C>T p.Pro583Leu p.P583L ENST00000300527 NM_001849.3 583 cCc/cTc 0 -COL6A3 UCSF GRCh37 2 238303787 238303787 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 46 23 75 0 ENST00000295550.4:c.152G>A p.Gly51Glu p.G51E ENST00000295550 NM_004369.3 51 gGa/gAa 0 -COL6A3 UCSF GRCh37 2 238275523 238275523 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 106 38 214 0 ENST00000295550.4:c.5307G>A p.Arg1769= p.R1769= ENST00000295550 NM_004369.3 1769 agG/agA 0 -COL6A6 UCSF GRCh37 3 130286093 130286093 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 303 74 365 0 ENST00000358511.6:c.1830C>T p.Ile610= p.I610= ENST00000358511 NM_001102608.1 610 atC/atT 0 -COL6A6 UCSF GRCh37 3 130300508 130300508 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 365 97 443 0 ENST00000358511.6:c.3651C>T p.Ile1217= p.I1217= ENST00000358511 NM_001102608.1 1217 atC/atT 0 -COL9A1 UCSF GRCh37 6 70973001 70973001 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 17 3 29 0 ENST00000357250.6:c.1342-1G>A p.X448_splice ENST00000357250 NM_001851.4 0 -COL9A2 UCSF GRCh37 1 40777380 40777380 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 26 123 0 ENST00000372748.3:c.425C>T p.Pro142Leu p.P142L ENST00000372748 NM_001852.3 142 cCt/cTt 0 -COPA UCSF GRCh37 1 160281759 160281759 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 81 21 128 0 ENST00000241704.7:c.975C>T p.Ala325= p.A325= ENST00000241704 NM_004371.3 325 gcC/gcT 0 -COPB1 UCSF GRCh37 11 14510097 14510097 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 22 12 62 0 ENST00000249923.3:c.640G>A p.Asp214Asn p.D214N ENST00000249923 NM_016451.4 214 Gat/Aat 0 -COQ2 UCSF GRCh37 4 84191112 84191112 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 83 44 229 1 ENST00000311469.4:c.813G>A p.Trp271Ter p.W271* ENST00000311469 NM_015697.7 271 tgG/tgA 0 -CORO1A UCSF GRCh37 16 30199523 30199523 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 129 18 213 0 ENST00000219150.5:c.1018C>T p.Leu340= p.L340= ENST00000219150 NM_007074.3 340 Ctg/Ttg 0 -CP UCSF GRCh37 3 148899850 148899850 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 126 38 163 0 ENST00000264613.6:c.2496C>T p.Tyr832= p.Y832= ENST00000264613 NM_000096.3 832 taC/taT 0 -CPNE3 UCSF GRCh37 8 87540831 87540831 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 85 19 115 0 ENST00000198765.4:c.58G>T p.Asp20Tyr p.D20Y ENST00000198765 20 Gat/Tat 0 -CPNE3 UCSF GRCh37 8 87559997 87559997 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 42 6 40 0 ENST00000198765.4:c.878C>T p.Thr293Ile p.T293I ENST00000198765 293 aCt/aTt 0 -CPNE6 UCSF GRCh37 14 24546809 24546809 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 104 48 249 0 ENST00000397016.2:c.1544C>T p.Pro515Leu p.P515L ENST00000397016 NM_001280558.1 515 cCc/cTc 0 -CPNE9 UCSF GRCh37 3 9746480 9746480 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 25 4 29 0 ENST00000383832.3:c.156+1G>A p.X52_splice ENST00000383832 NM_153635.2 0 -CPT1A UCSF GRCh37 11 68540840 68540840 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 102 37 161 0 ENST00000265641.5:c.1633G>A p.Asp545Asn p.D545N ENST00000265641 NM_001876.3 545 Gat/Aat 0 -CRADD UCSF GRCh37 12 94244012 94244012 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 46 11 58 0 ENST00000332896.3:c.565G>A p.Val189Met p.V189M ENST00000332896 NM_003805.3 189 Gtg/Atg 0 -CREBBP UCSF GRCh37 16 3779333 3779333 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 14 5 24 0 ENST00000262367.5:c.5715C>T p.Pro1905= p.P1905= ENST00000262367 NM_004380.2 1905 ccC/ccT 0 -CRLF3 UCSF GRCh37 17 29112936 29112936 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 81 16 96 0 ENST00000324238.6:c.1072+1G>A p.X358_splice ENST00000324238 NM_015986.3 0 -CRMP1 UCSF GRCh37 4 5827243 5827243 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 105 27 145 0 ENST00000397890.2:c.1605C>T p.His535= p.H535= ENST00000397890 NM_001313.3 535 caC/caT 0 -CRTC1 UCSF GRCh37 19 18888034 18888034 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 262 100 327 0 ENST00000321949.8:c.1747G>A p.Gly583Arg p.G583R ENST00000321949 NM_015321.2 583 Ggg/Agg 0 -CSHL1 UCSF GRCh37 17 61987262 61987262 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 242 70 341 0 ENST00000309894.5:c.478G>A p.Glu160Lys p.E160K ENST00000309894 NM_022579.1 160 Gaa/Aaa 0 -CTDP1 UCSF GRCh37 18 77474755 77474755 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 13 5 25 0 ENST00000299543.7:c.1295G>A p.Gly432Asp p.G432D ENST00000299543 NM_001202504.1 432 gGt/gAt 0 -CTLA4 UCSF GRCh37 2 204736188 204736188 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 114 32 179 0 ENST00000302823.3:c.545C>T p.Thr182Ile p.T182I ENST00000302823 NM_005214.4 182 aCa/aTa 0 -CTNNA3 UCSF GRCh37 10 69281603 69281603 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 76 20 146 0 ENST00000433211.2:c.576G>A p.Gln192= p.Q192= ENST00000433211 NM_013266.2 192 caG/caA 0 -CTSL2 UCSF GRCh37 9 99799878 99799878 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 266 62 339 0 ENST00000259470.5:c.146G>A p.Arg49Lys p.R49K ENST00000259470 NM_001333.3 49 aGa/aAa 0 -CTTNBP2NL UCSF GRCh37 1 112991731 112991731 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 81 22 91 0 ENST00000271277.6:c.267G>A p.Gln89= p.Q89= ENST00000271277 NM_018704.2 89 caG/caA 0 -CTU2 UCSF GRCh37 16 88776418 88776418 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 122 31 274 0 ENST00000453996.2:c.216C>T p.Gly72= p.G72= ENST00000453996 NM_001012759.1 72 ggC/ggT 0 -CUL7 UCSF GRCh37 6 43005665 43005665 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 90 15 72 0 ENST00000265348.3:c.4858G>A p.Asp1620Asn p.D1620N ENST00000265348 1620 Gac/Aac 0 -CX3CL1 UCSF GRCh37 16 57416257 57416257 + synonymous_variant Silent SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 56 29 102 0 ENST00000006053.6:c.507C>A p.Leu169= p.L169= ENST00000006053 NM_002996.3 169 ctC/ctA 0 -CYB5D1 UCSF GRCh37 17 7762789 7762789 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 121 39 199 0 ENST00000332439.4:c.546G>A p.Gly182= p.G182= ENST00000332439 NM_144607.4 182 ggG/ggA 0 -CYFIP2 UCSF GRCh37 5 156747704 156747704 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 58 37 169 0 ENST00000521420.1:c.1487G>A p.Gly496Glu p.G496E ENST00000521420 496 gGa/gAa 0 -CYP26C1 UCSF GRCh37 10 94828367 94828367 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 17 10 37 0 ENST00000285949.5:c.1482G>A p.Thr494= p.T494= ENST00000285949 NM_183374.2 494 acG/acA 0 -CYTH2 UCSF GRCh37 19 48973630 48973630 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 157 53 231 0 ENST00000427476.1:c.40G>A p.Glu14Lys p.E14K ENST00000427476 NM_017457.5 14 Gag/Aag 0 -DACT1 UCSF GRCh37 14 59107525 59107525 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 152 56 243 0 ENST00000335867.4:c.417G>A p.Leu139= p.L139= ENST00000335867 139 ctG/ctA 0 -DBF4B UCSF GRCh37 17 42828469 42828469 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 167 59 280 0 ENST00000315005.3:c.1696C>T p.Pro566Ser p.P566S ENST00000315005 NM_145663.2 566 Ccc/Tcc 0 -DCHS1 UCSF GRCh37 11 6648774 6648774 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 67 8 117 0 ENST00000299441.3:c.5496G>A p.Gln1832= p.Q1832= ENST00000299441 NM_003737.2 1832 caG/caA 0 -DCHS1 UCSF GRCh37 11 6643673 6643673 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 22 11 46 0 ENST00000299441.3:c.9234C>T p.Asp3078= p.D3078= ENST00000299441 NM_003737.2 3078 gaC/gaT 0 -DDR1 UCSF GRCh37 6 30865957 30865957 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 204 27 145 0 ENST00000324771.8:c.2324G>A p.Gly775Glu p.G775E ENST00000324771 775 gGg/gAg 0 -DDX18 UCSF GRCh37 2 118586528 118586528 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 46 8 57 0 ENST00000263239.2:c.1639C>T p.Pro547Ser p.P547S ENST00000263239 NM_006773.3 547 Cca/Tca 0 -DDX49 UCSF GRCh37 19 19033453 19033453 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 158 29 141 0 ENST00000247003.4:c.676G>A p.Val226Met p.V226M ENST00000247003 NM_019070.4 226 Gtg/Atg 0 -DENND2D UCSF GRCh37 1 111740573 111740573 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 40 18 48 0 ENST00000357640.4:c.395G>A p.Ser132Asn p.S132N ENST00000357640 NM_024901.4 132 aGc/aAc 0 -DIDO1 UCSF GRCh37 20 61511428 61511428 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 209 52 314 0 ENST00000266070.4:c.5880G>A p.Arg1960= p.R1960= ENST00000266070 NM_033081.2 1960 agG/agA 0 -DLEC1 UCSF GRCh37 3 38125727 38125727 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 129 35 150 1 ENST00000308059.6:c.1252C>T p.Leu418= p.L418= ENST00000308059 418 Ctg/Ttg 0 -DLGAP4 UCSF GRCh37 20 35125306 35125306 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 117 22 155 0 ENST00000339266.5:c.1847C>T p.Thr616Ile p.T616I ENST00000339266 616 aCc/aTc 0 -DLL4 UCSF GRCh37 15 41229048 41229048 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 137 42 171 0 ENST00000249749.5:c.1863C>T p.Pro621= p.P621= ENST00000249749 NM_019074.3 621 ccC/ccT 0 -DMXL1 UCSF GRCh37 5 118469874 118469874 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 168 27 188 0 ENST00000311085.8:c.2254+1G>A p.X752_splice ENST00000311085 NM_005509.4 0 -DNAH11 UCSF GRCh37 7 21723468 21723468 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 253 109 475 1 ENST00000409508.3:c.5527C>T p.His1843Tyr p.H1843Y ENST00000409508 NM_001277115.1 1843 Cac/Tac 0 -DNAH9 UCSF GRCh37 17 11583146 11583146 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 154 46 251 1 ENST00000262442.4:c.3426C>T p.Phe1142= p.F1142= ENST00000262442 NM_001372.3 1142 ttC/ttT 0 -DNAH9 UCSF GRCh37 17 11795177 11795177 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 187 39 242 1 ENST00000262442.4:c.11196C>T p.Asp3732= p.D3732= ENST00000262442 NM_001372.3 3732 gaC/gaT 0 -DNAJC13 UCSF GRCh37 3 132203503 132203503 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 133 26 142 0 ENST00000260818.6:c.3254C>T p.Pro1085Leu p.P1085L ENST00000260818 NM_015268.3 1085 cCc/cTc 0 -DNAJC13 UCSF GRCh37 3 132172971 132172971 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 86 12 85 0 ENST00000260818.6:c.902G>A p.Gly301Glu p.G301E ENST00000260818 NM_015268.3 301 gGg/gAg 0 -DNAJC14 UCSF GRCh37 12 56221696 56221696 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 103 46 214 0 ENST00000317269.3:c.747G>A p.Gln249= p.Q249= ENST00000317269 NM_032364.5 249 caG/caA 0 -DNPEP UCSF GRCh37 2 220251054 220251054 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 117 50 246 0 ENST00000273075.4:c.413C>T p.Thr138Ile p.T138I ENST00000273075 NM_012100.2 138 aCc/aTc 0 -DOCK5 UCSF GRCh37 8 25174587 25174587 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 345 42 467 1 ENST00000276440.7:c.1383G>A p.Lys461= p.K461= ENST00000276440 NM_024940.6 461 aaG/aaA 0 -DPCD UCSF GRCh37 10 103361091 103361091 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 95 40 221 0 ENST00000370151.4:c.402G>A p.Lys134= p.K134= ENST00000370151 NM_015448.1 134 aaG/aaA 0 -DPEP2 UCSF GRCh37 16 68026929 68026929 + missense_variant Missense_Mutation SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 11 6 31 0 ENST00000393847.1:c.187A>G p.Thr63Ala p.T63A ENST00000393847 NM_022355.3 63 Aca/Gca 0 -DPP8 UCSF GRCh37 15 65756199 65756199 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 72 16 89 0 ENST00000341861.5:c.1919G>A p.Ser640Asn p.S640N ENST00000341861 NM_197960.2 640 aGt/aAt 0 -DPP8 UCSF GRCh37 15 65771336 65771336 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 64 24 63 0 ENST00000341861.5:c.1386G>A p.Glu462= p.E462= ENST00000341861 NM_197960.2 462 gaG/gaA 0 -DPP9 UCSF GRCh37 19 4697580 4697580 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 37 31 85 0 ENST00000598800.1:c.1071G>A p.Trp357Ter p.W357* ENST00000598800 357 tgG/tgA 0 -DPYSL5 UCSF GRCh37 2 27165609 27165609 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 69 24 126 0 ENST00000288699.6:c.1431G>A p.Gln477= p.Q477= ENST00000288699 NM_001253724.1 477 caG/caA 0 -DSCAM UCSF GRCh37 21 41668075 41668075 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 133 27 138 0 ENST00000400454.1:c.2089C>T p.Arg697Trp p.R697W ENST00000400454 NM_001271534.1 697 Cgg/Tgg 0 -DST UCSF GRCh37 6 56483139 56483139 + intron_variant Intron SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 164 24 119 0 ENST00000244364.6:c.3319-3857G>A *1107* ENST00000244364 NM_015548.4 0 -DST UCSF GRCh37 6 56438626 56438626 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 333 39 281 0 ENST00000244364.6:c.5218C>T p.Leu1740Phe p.L1740F ENST00000244364 NM_015548.4 1740 Ctc/Ttc 0 -DTNA UCSF GRCh37 18 32462088 32462088 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 73 20 137 0 ENST00000399113.3:c.2137G>A p.Asp713Asn p.D713N ENST00000399113 713 Gac/Aac 0 -DUOX2 UCSF GRCh37 15 45386450 45386450 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 84 25 103 0 ENST00000603300.1:c.4545C>T p.Phe1515= p.F1515= ENST00000603300 NM_014080.4 1515 ttC/ttT 0 -DYTN UCSF GRCh37 2 207569614 207569614 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 158 51 250 0 ENST00000452335.2:c.436C>T p.Arg146Cys p.R146C ENST00000452335 NM_001093730.1 146 Cgc/Tgc 0 -EBF4 UCSF GRCh37 20 2690257 2690257 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 18 3 34 0 ENST00000609451.1:c.526G>A p.Glu176Lys p.E176K ENST00000609451 176 Gag/Aag 0 -EDC4 UCSF GRCh37 16 67915601 67915601 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 92 25 135 0 ENST00000358933.5:c.2857C>T p.Leu953= p.L953= ENST00000358933 NM_014329.4 953 Cta/Tta 0 -EEF1A1 UCSF GRCh37 6 74228138 74228138 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 52 33 288 0 ENST00000309268.6:c.968G>A p.Gly323Asp p.G323D ENST00000309268 323 gGc/gAc 0 -EFR3A UCSF GRCh37 8 132966207 132966207 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 150 29 126 0 ENST00000254624.5:c.631G>A p.Val211Ile p.V211I ENST00000254624 NM_015137.4 211 Gtt/Att 0 -EHD1 UCSF GRCh37 11 64645795 64645795 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 147 48 248 0 ENST00000320631.3:c.142C>T p.Pro48Ser p.P48S ENST00000320631 NM_006795.2 48 Ccc/Tcc 0 -EHMT2 UCSF GRCh37 6 31864468 31864468 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 199 29 135 0 ENST00000375537.4:c.243C>T p.Thr81= p.T81= ENST00000375537 NM_006709.3 81 acC/acT 0 -EIF2AK2 UCSF GRCh37 2 37374877 37374877 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 155 51 268 0 ENST00000233057.4:c.73C>T p.Leu25Phe p.L25F ENST00000233057 NM_001135651.2 25 Ctt/Ttt 0 -EIF2AK3 UCSF GRCh37 2 88874467 88874467 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 188 45 273 0 ENST00000303236.3:c.2534G>A p.Ser845Asn p.S845N ENST00000303236 NM_004836.5 845 aGc/aAc 0 -EIF2C1 UCSF GRCh37 1 36360759 36360759 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 135 23 199 0 ENST00000373204.4:c.909G>A p.Glu303= p.E303= ENST00000373204 NM_012199.2 303 gaG/gaA 0 -EIF2D UCSF GRCh37 1 206772907 206772907 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 141 28 179 0 ENST00000271764.2:c.1112G>A p.Ser371Asn p.S371N ENST00000271764 NM_006893.2 371 aGc/aAc 0 -ELANE UCSF GRCh37 19 855770 855770 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 97 31 100 0 ENST00000263621.1:c.573G>A p.Arg191= p.R191= ENST00000263621 NM_001972.2 191 agG/agA 0 -ELL UCSF GRCh37 19 18572590 18572590 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 127 20 142 0 ENST00000262809.4:c.542C>T p.Pro181Leu p.P181L ENST00000262809 NM_006532.3 181 cCc/cTc 0 -ELMO3 UCSF GRCh37 16 67236151 67236151 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 168 56 291 0 ENST00000393997.2:c.1384G>A p.Val462Met p.V462M ENST00000393997 NM_024712.3 462 Gtg/Atg 0 -EME1 UCSF GRCh37 17 48456458 48456458 + intron_variant Intron SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 118 30 151 1 ENST00000338165.4:c.1113-10C>T *371* ENST00000338165 NM_152463.2 0 -EMR1 UCSF GRCh37 19 6937382 6937382 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 102 43 194 1 ENST00000312053.4:c.2510G>A p.Gly837Glu p.G837E ENST00000312053 NM_001974.4 837 gGg/gAg 0 -ENTHD1 UCSF GRCh37 22 40140178 40140178 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 112 28 132 0 ENST00000325157.6:c.1330C>T p.Pro444Ser p.P444S ENST00000325157 NM_152512.3 444 Cct/Tct 0 -EP400 UCSF GRCh37 12 132529870 132529870 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 54 16 98 0 ENST00000389561.2:c.6791G>A p.Gly2264Asp p.G2264D ENST00000389561 NM_015409.4 2264 gGc/gAc 0 -EPB41L4B UCSF GRCh37 9 111947801 111947801 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 55 11 72 0 ENST00000374566.3:c.2386G>A p.Val796Ile p.V796I ENST00000374566 NM_019114.3 796 Gtt/Att 0 -EPC2 UCSF GRCh37 2 149447906 149447906 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 282 59 375 0 ENST00000258484.6:c.277G>A p.Glu93Lys p.E93K ENST00000258484 NM_015630.3 93 Gag/Aag 0 -EPHA6 UCSF GRCh37 3 97198182 97198182 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 63 10 96 0 ENST00000389672.5:c.2048G>A p.Arg683Lys p.R683K ENST00000389672 NM_001080448.2 683 aGa/aAa 0 -EPHB3 UCSF GRCh37 3 184293762 184293762 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 73 51 222 0 ENST00000330394.2:c.1001G>A p.Ser334Asn p.S334N ENST00000330394 NM_004443.3 334 aGt/aAt 0 -EPRS UCSF GRCh37 1 220160503 220160503 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 108 30 130 0 ENST00000366923.3:c.3019G>A p.Gly1007Arg p.G1007R ENST00000366923 NM_004446.2 1007 Ggg/Agg 0 -ERCC6L UCSF GRCh37 X 71427075 71427075 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 80 44 126 0 ENST00000334463.3:c.1542G>A p.Leu514= p.L514= ENST00000334463 NM_017669.2 514 ttG/ttA 0 -ERCC8 UCSF GRCh37 5 60240799 60240799 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 153 22 171 0 ENST00000265038.5:c.37G>A p.Glu13Lys p.E13K ENST00000265038 NM_000082.3 13 Gag/Aag 0 -ESPL1 UCSF GRCh37 12 53663436 53663436 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 209 88 413 0 ENST00000257934.4:c.710G>A p.Gly237Glu p.G237E ENST00000257934 NM_012291.4 237 gGg/gAg 0 -ESRP1 UCSF GRCh37 8 95654212 95654212 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 217 43 206 0 ENST00000433389.2:c.161G>A p.Arg54Lys p.R54K ENST00000433389 NM_001034915.2 54 aGa/aAa 0 -EVC2 UCSF GRCh37 4 5624425 5624425 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 48 37 99 0 ENST00000344408.5:c.2340C>T p.His780= p.H780= ENST00000344408 NM_147127.4 780 caC/caT 0 -EYA3 UCSF GRCh37 1 28384522 28384522 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 139 36 163 0 ENST00000373871.3:c.16G>A p.Asp6Asn p.D6N ENST00000373871 6 Gat/Aat 0 -FAAH UCSF GRCh37 1 46871454 46871454 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 61 23 105 0 ENST00000243167.8:c.773G>A p.Gly258Glu p.G258E ENST00000243167 NM_001441.2 258 gGg/gAg 0 -FAF2 UCSF GRCh37 5 175906208 175906208 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 50 25 133 0 ENST00000261942.6:c.83C>T p.Ser28Phe p.S28F ENST00000261942 NM_014613.2 28 tCt/tTt 0 -FAM109B UCSF GRCh37 22 42474031 42474031 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 16 7 15 0 ENST00000321753.3:c.734G>A p.Arg245Lys p.R245K ENST00000321753 NM_001002034.2 245 aGg/aAg 0 -FAM110B UCSF GRCh37 8 59059817 59059817 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 81 17 131 0 ENST00000361488.3:c.1028C>T p.Ser343Phe p.S343F ENST00000361488 NM_147189.2 343 tCt/tTt 0 -FAM117B UCSF GRCh37 2 203622117 203622117 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 77 14 138 0 ENST00000392238.2:c.1286G>A p.Ser429Asn p.S429N ENST00000392238 429 aGt/aAt 0 -FAM120A UCSF GRCh37 9 96320950 96320950 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 112 36 144 0 ENST00000277165.6:c.2756G>A p.Cys919Tyr p.C919Y ENST00000277165 NM_014612.3 919 tGc/tAc 0 -FAM120AOS UCSF GRCh37 9 96214878 96214878 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 36 13 54 0 ENST00000375412.5:c.114C>T p.Asp38= p.D38= ENST00000375412 NM_198841.2 38 gaC/gaT 0 -FAM153A UCSF GRCh37 5 177166124 177166124 + synonymous_variant,NMD_transcript_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 60 9 136 1 ENST00000360669.6:c.321C>T p.Thr107= p.T107= ENST00000360669 107 acC/acT 0 -FAM179B UCSF GRCh37 14 45432574 45432574 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 110 33 148 0 ENST00000361577.3:c.950G>A p.Ser317Asn p.S317N ENST00000361577 NM_015091.2 317 aGt/aAt 0 -FAM184B UCSF GRCh37 4 17636702 17636702 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 110 29 129 0 ENST00000265018.3:c.2819G>A p.Ser940Asn p.S940N ENST00000265018 NM_015688.1 940 aGt/aAt 0 -FAM208B UCSF GRCh37 10 5789811 5789811 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 151 22 146 0 ENST00000328090.5:c.4427C>T p.Ser1476Phe p.S1476F ENST00000328090 NM_017782.4 1476 tCt/tTt 0 -FAM21B UCSF GRCh37 10 47911067 47911067 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 28 5 73 0 ENST00000358474.5:c.935C>T p.Pro312Leu p.P312L ENST00000358474 NM_018232.1 312 cCt/cTt 0 -FAM40A UCSF GRCh37 1 110582130 110582130 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 12 6 37 0 ENST00000369795.3:c.574G>A p.Glu192Lys p.E192K ENST00000369795 NM_033088.3 192 Gaa/Aaa 0 -FAM40B UCSF GRCh37 7 129096376 129096376 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 86 33 189 0 ENST00000249344.2:c.931G>A p.Val311Met p.V311M ENST00000249344 NM_020704.2 311 Gtg/Atg 0 -FAM47C UCSF GRCh37 X 37026847 37026847 + stop_gained Nonsense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 82 56 152 0 ENST00000358047.3:c.364G>T p.Glu122Ter p.E122* ENST00000358047 NM_001013736.2 122 Gaa/Taa 0 -FAM76A UCSF GRCh37 1 28081740 28081740 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 178 48 232 0 ENST00000373954.6:c.634A>G p.Thr212Ala p.T212A ENST00000373954 NM_152660.2 212 Act/Gct 0 -FAM96A UCSF GRCh37 15 64365200 64365200 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 136 50 144 0 ENST00000300030.3:c.413G>A p.Arg138Gln p.R138Q ENST00000300030 NM_032231.4 138 cGa/cAa 0 -FAN1 UCSF GRCh37 15 31221558 31221558 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 173 38 222 0 ENST00000362065.4:c.2745C>T p.Ser915= p.S915= ENST00000362065 NM_014967.4 915 tcC/tcT 0 -FANCM UCSF GRCh37 14 45668044 45668044 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 86 34 122 0 ENST00000267430.5:c.5914G>A p.Ala1972Thr p.A1972T ENST00000267430 NM_020937.2 1972 Gca/Aca 0 -FAT1 UCSF GRCh37 4 187557930 187557930 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 332 173 707 1 ENST00000441802.2:c.3781G>A p.Asp1261Asn p.D1261N ENST00000441802 NM_005245.3 1261 Gac/Aac 0 -FBXL18 UCSF GRCh37 7 5530973 5530973 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 24 8 39 0 ENST00000382368.3:c.1889C>T p.Pro630Leu p.P630L ENST00000382368 NM_024963.4 630 cCc/cTc 0 -FBXO5 UCSF GRCh37 6 153296649 153296649 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 85 45 181 0 ENST00000229758.3:c.211C>T p.Leu71= p.L71= ENST00000229758 NM_012177.3 71 Cta/Tta 0 -FCGR2A UCSF GRCh37 1 161483691 161483691 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 249 57 355 1 ENST00000271450.6:c.749C>T p.Ser250Phe p.S250F ENST00000271450 NM_021642.3 250 tCc/tTc 0 -FCGR3B UCSF GRCh37 1 161600921 161600921 + 5_prime_UTR_variant 5'UTR SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 157 43 259 0 ENST00000294800.3:c.-37G>A *13* ENST00000294800 NM_001271035.1 0 -FEM1C UCSF GRCh37 5 114879155 114879155 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 111 35 130 0 ENST00000274457.3:c.36G>A p.Arg12= p.R12= ENST00000274457 NM_020177.2 12 cgG/cgA 0 -FERMT3 UCSF GRCh37 11 63978216 63978216 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 266 60 368 0 ENST00000279227.5:c.294G>A p.Arg98= p.R98= ENST00000279227 NM_178443.2 98 cgG/cgA 0 -FGFR2 UCSF GRCh37 10 123278254 123278254 + intron_variant Intron SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 37 24 143 0 ENST00000358487.5:c.939+1239C>T *313* ENST00000358487 NM_000141.4 0 -FILIP1L UCSF GRCh37 3 99643078 99643078 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 239 71 349 0 ENST00000354552.3:c.601G>A p.Glu201Lys p.E201K ENST00000354552 NM_182909.2 201 Gaa/Aaa 0 -FIP1L1 UCSF GRCh37 4 54319248 54319249 + frameshift_variant Frame_Shift_Del DEL AG AG - 1000g2010nov_all P21_Rec Untested WXS Illumina HiSeq 20 0 ENST00000337488.6:c.1459_1460delAG p.Arg487GlyfsTer3 p.R487Gfs*3 ENST00000337488 NM_030917.3 483 AGa/a 0 -FKBP10 UCSF GRCh37 17 39974720 39974720 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 57 19 96 0 ENST00000321562.4:c.668C>T p.Pro223Leu p.P223L ENST00000321562 NM_021939.3 223 cCt/cTt 0 -FLG UCSF GRCh37 1 152280250 152280250 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 545 153 995 0 ENST00000368799.1:c.7112G>A p.Ser2371Asn p.S2371N ENST00000368799 NM_002016.1 2371 aGt/aAt 0 -FLG UCSF GRCh37 1 152287016 152287016 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 175 31 196 0 ENST00000368799.1:c.346G>A p.Glu116Lys p.E116K ENST00000368799 NM_002016.1 116 Gaa/Aaa 0 -FLNB UCSF GRCh37 3 58064451 58064451 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 27 3 29 0 ENST00000295956.4:c.549C>T p.Cys183= p.C183= ENST00000295956 NM_001457.3 183 tgC/tgT 0 -FLT1 UCSF GRCh37 13 29012374 29012374 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 30 5 86 0 ENST00000282397.4:c.497C>T p.Thr166Ile p.T166I ENST00000282397 NM_002019.4 166 aCt/aTt 0 -FMN2 UCSF GRCh37 1 240370916 240370916 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 60 27 118 1 ENST00000319653.9:c.2804C>T p.Pro935Leu p.P935L ENST00000319653 NM_020066.4 935 cCc/cTc 0 -FMO1 UCSF GRCh37 1 171254589 171254589 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 164 39 167 0 ENST00000354841.4:c.1505G>A p.Arg502Gln p.R502Q ENST00000354841 NM_001282692.1 502 cGa/cAa 0 -FOXJ3 UCSF GRCh37 1 42657376 42657376 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 184 24 286 0 ENST00000361346.1:c.949C>T p.Pro317Ser p.P317S ENST00000361346 NM_014947.4 317 Cct/Tct 0 -FPGT UCSF GRCh37 1 74671005 74671005 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 137 44 175 0 ENST00000609362.1:c.1274G>A p.Gly425Glu p.G425E ENST00000609362 425 gGg/gAg 0 -FRAS1 UCSF GRCh37 4 79430074 79430074 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 71 44 216 0 ENST00000264895.6:c.9694G>A p.Val3232Met p.V3232M ENST00000264895 NM_025074.6 3232 Gtg/Atg 0 -FSIP2 UCSF GRCh37 2 186670828 186670828 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Rec Untested WXS Illumina HiSeq 115 32 204 0 ENST00000424728.1:c.16795G>C p.Val5599Leu p.V5599L ENST00000424728 5599 Gta/Cta 0 -FTSJD1 UCSF GRCh37 16 71318473 71318473 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 105 31 118 0 ENST00000338099.5:c.1351G>A p.Glu451Lys p.E451K ENST00000338099 451 Gaa/Aaa 0 -FYTTD1 UCSF GRCh37 3 197482706 197482706 + intron_variant Intron SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 108 23 221 0 ENST00000241502.4:c.104-591G>A *35* ENST00000241502 NM_032288.6 0 -GABRA4 UCSF GRCh37 4 46979087 46979087 + missense_variant Missense_Mutation SNP A A T NOVEL P21_Rec Untested WXS Illumina HiSeq 30 4 46 0 ENST00000264318.3:c.568T>A p.Phe190Ile p.F190I ENST00000264318 NM_000809.3 190 Ttc/Atc 0 -GABRG3 UCSF GRCh37 15 27765224 27765224 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 117 35 147 0 ENST00000333743.6:c.819G>A p.Val273= p.V273= ENST00000333743 NM_033223.4 273 gtG/gtA 0 -GADD45B UCSF GRCh37 19 2477114 2477114 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 69 15 95 0 ENST00000215631.4:c.234C>T p.Ile78= p.I78= ENST00000215631 NM_015675.3 78 atC/atT 0 -GALNT8 UCSF GRCh37 12 4853683 4853683 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 22 107 0 ENST00000252318.2:c.677G>A p.Gly226Glu p.G226E ENST00000252318 NM_017417.1 226 gGa/gAa 0 -GALNTL1 UCSF GRCh37 14 69799836 69799836 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 51 18 105 0 ENST00000337827.4:c.813G>A p.Gln271= p.Q271= ENST00000337827 NM_020692.2 271 caG/caA 0 -GATA2 UCSF GRCh37 3 128204813 128204813 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 45 9 76 0 ENST00000341105.2:c.628G>A p.Gly210Ser p.G210S ENST00000341105 NM_032638.4 210 Ggc/Agc 0 -GBA1 UCSF GRCh37 1 155204985 155204985 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 186 56 305 0 ENST00000327247.5:c.1505+1G>A p.X502_splice ENST00000327247 NM_001005742.2 0 -GBGT1 UCSF GRCh37 9 136030687 136030687 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 44 9 67 0 ENST00000372040.3:c.237G>A p.Leu79= p.L79= ENST00000372040 79 ctG/ctA 0 -GGA1 UCSF GRCh37 22 38019349 38019349 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 262 67 371 0 ENST00000343632.4:c.625G>A p.Glu209Lys p.E209K ENST00000343632 NM_013365.4 209 Gag/Aag 0 -GHRHR UCSF GRCh37 7 31008546 31008546 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 69 21 117 0 ENST00000326139.2:c.155C>T p.Thr52Ile p.T52I ENST00000326139 NM_000823.3 52 aCc/aTc 0 -GIPC3 UCSF GRCh37 19 3586840 3586840 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 57 14 99 0 ENST00000322315.5:c.440G>A p.Arg147Gln p.R147Q ENST00000322315 NM_133261.2 147 cGg/cAg 0 -GJA4 UCSF GRCh37 1 35260362 35260362 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 92 18 170 0 ENST00000342280.4:c.548C>T p.Pro183Leu p.P183L ENST00000342280 NM_002060.2 183 cCc/cTc 0 -GLG1 UCSF GRCh37 16 74542750 74542750 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 66 9 86 0 ENST00000422840.2:c.545C>T p.Ser182Phe p.S182F ENST00000422840 NM_001145667.1 182 tCt/tTt 0 -GLI3 UCSF GRCh37 7 42005317 42005317 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 198 24 316 0 ENST00000395925.3:c.3354C>T p.Asp1118= p.D1118= ENST00000395925 NM_000168.5 1118 gaC/gaT 0 -GLIPR1 UCSF GRCh37 12 75874799 75874799 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 88 38 154 0 ENST00000266659.3:c.139G>A p.Glu47Lys p.E47K ENST00000266659 NM_006851.2 47 Gag/Aag 0 -GMCL1 UCSF GRCh37 2 70096865 70096865 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 97 24 134 0 ENST00000282570.3:c.1233G>A p.Trp411Ter p.W411* ENST00000282570 NM_178439.3 411 tgG/tgA 0 -GMIP UCSF GRCh37 19 19745726 19745726 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 165 74 182 0 ENST00000203556.4:c.1762G>A p.Val588Ile p.V588I ENST00000203556 NM_016573.2 588 Gtc/Atc 0 -GMIP UCSF GRCh37 19 19740773 19740773 + stop_retained_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 23 4 24 0 ENST00000203556.4:c.2912G>A p.Ter971= p.*971= ENST00000203556 NM_016573.2 971 tGa/tAa 0 -GNAI2 UCSF GRCh37 3 50290583 50290583 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 192 24 289 0 ENST00000313601.6:c.431C>T p.Ser144Leu p.S144L ENST00000313601 NM_002070.2 144 tCa/tTa 0 -GNL3L UCSF GRCh37 X 54569664 54569664 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 24 5 53 0 ENST00000336470.4:c.415C>T p.Leu139= p.L139= ENST00000336470 NM_019067.5 139 Ctg/Ttg 0 -GPC1 UCSF GRCh37 2 241401873 241401873 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 43 9 43 0 ENST00000264039.2:c.591G>A p.Glu197= p.E197= ENST00000264039 NM_002081.2 197 gaG/gaA 0 -GPER UCSF GRCh37 7 1131933 1131933 + missense_variant Missense_Mutation SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 83 40 169 0 ENST00000297469.3:c.569T>C p.Leu190Pro p.L190P ENST00000297469 NM_001505.2 190 cTg/cCg 0 -GPLD1 UCSF GRCh37 6 24475433 24475433 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 138 18 154 0 ENST00000230036.1:c.357G>A p.Leu119= p.L119= ENST00000230036 NM_001503.3 119 ttG/ttA 0 -GPR111 UCSF GRCh37 6 47649587 47649587 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 437 53 322 0 ENST00000296862.1:c.1292C>T p.Ser431Phe p.S431F ENST00000296862 431 tCt/tTt 0 -GPR112 UCSF GRCh37 X 135432388 135432388 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 66 57 130 0 ENST00000370652.1:c.6523C>T p.Leu2175= p.L2175= ENST00000370652 2175 Ctg/Ttg 0 -GPR114 UCSF GRCh37 16 57600590 57600590 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 151 37 214 0 ENST00000340339.4:c.626G>A p.Cys209Tyr p.C209Y ENST00000340339 NM_153837.1 209 tGt/tAt 0 -GPR125 UCSF GRCh37 4 22390463 22390463 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 141 24 138 0 ENST00000334304.5:c.2831G>A p.Arg944Lys p.R944K ENST00000334304 NM_145290.3 944 aGa/aAa 0 -GPR125 UCSF GRCh37 4 22389518 22389518 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 159 34 171 0 ENST00000334304.5:c.3776C>T p.Thr1259Ile p.T1259I ENST00000334304 NM_145290.3 1259 aCc/aTc 0 -GPR15 UCSF GRCh37 3 98251207 98251207 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 116 34 174 0 ENST00000284311.3:c.330C>T p.Ser110= p.S110= ENST00000284311 NM_005290.2 110 tcC/tcT 0 -GPR155 UCSF GRCh37 2 175335141 175335141 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 55 17 101 0 ENST00000295500.4:c.1003C>T p.Gln335Ter p.Q335* ENST00000295500 NM_001033045.3 335 Caa/Taa 0 -GRIN3A UCSF GRCh37 9 104432882 104432882 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 114 30 167 0 ENST00000361820.3:c.1812G>A p.Lys604= p.K604= ENST00000361820 NM_133445.2 604 aaG/aaA 0 -GSTA5 UCSF GRCh37 6 52701042 52701042 + synonymous_variant Silent SNP C C T snp132_rs61735553 P21_Rec Untested WXS Illumina HiSeq 503 67 463 0 ENST00000284562.2:c.264G>A p.Glu88= p.E88= ENST00000284562 NM_153699.1 88 gaG/gaA 0 -GTF2F1 UCSF GRCh37 19 6380431 6380431 + missense_variant Missense_Mutation SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 326 83 504 1 ENST00000394456.5:c.1415A>G p.Asp472Gly p.D472G ENST00000394456 NM_002096.2 472 gAc/gGc 0 -GTPBP2 UCSF GRCh37 6 43596768 43596768 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 35 9 28 0 ENST00000307126.5:c.132G>A p.Lys44= p.K44= ENST00000307126 NM_019096.3 44 aaG/aaA 0 -GTPBP4 UCSF GRCh37 10 1054927 1054927 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 116 42 180 0 ENST00000360803.4:c.1143G>A p.Val381= p.V381= ENST00000360803 NM_012341.2 381 gtG/gtA 0 -GULP1 UCSF GRCh37 2 189405948 189405948 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 71 37 124 0 ENST00000359135.3:c.302G>A p.Cys101Tyr p.C101Y ENST00000359135 101 tGt/tAt 0 -GZF1 UCSF GRCh37 20 23351007 23351007 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 148 27 202 0 ENST00000338121.5:c.2065G>A p.Glu689Lys p.E689K ENST00000338121 689 Gag/Aag 0 -GZF1 UCSF GRCh37 20 23346133 23346133 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 167 58 341 0 ENST00000338121.5:c.1113C>T p.His371= p.H371= ENST00000338121 371 caC/caT 0 -H2AFY UCSF GRCh37 5 134670722 134670722 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 148 48 206 0 ENST00000510038.1:c.1063G>A p.Asp355Asn p.D355N ENST00000510038 355 Gac/Aac 0 -HAUS1 UCSF GRCh37 18 43702472 43702472 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 90 24 140 0 ENST00000282058.6:c.516G>A p.Arg172= p.R172= ENST00000282058 NM_138443.3 172 agG/agA 0 -HAUS5 UCSF GRCh37 19 36113550 36113550 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 83 17 80 0 ENST00000203166.5:c.1699C>T p.Leu567= p.L567= ENST00000203166 NM_015302.1 567 Ctg/Ttg 0 -HAUS8 UCSF GRCh37 19 17160698 17160698 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 231 59 331 0 ENST00000253669.5:c.1218G>A p.Gly406= p.G406= ENST00000253669 406 ggG/ggA 0 -HEATR1 UCSF GRCh37 1 236722401 236722401 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 91 20 112 0 ENST00000366582.3:c.4805C>T p.Pro1602Leu p.P1602L ENST00000366582 NM_018072.5 1602 cCt/cTt 0 -HEATR5A UCSF GRCh37 14 31813262 31813262 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 110 37 169 0 ENST00000389961.3:c.3050C>T p.Thr1017Ile p.T1017I ENST00000389961 1017 aCt/aTt 0 -HEATR5B UCSF GRCh37 2 37302778 37302778 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 105 33 177 0 ENST00000233099.5:c.448-1G>A p.X150_splice ENST00000233099 NM_019024.1 0 -HECW2 UCSF GRCh37 2 197184437 197184437 + stop_gained Nonsense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 95 44 197 0 ENST00000260983.3:c.1177G>T p.Glu393Ter p.E393* ENST00000260983 NM_020760.1 393 Gaa/Taa 0 -HERC1 UCSF GRCh37 15 63964892 63964892 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 130 23 144 1 ENST00000443617.2:c.7848G>A p.Glu2616= p.E2616= ENST00000443617 NM_003922.3 2616 gaG/gaA 0 -HERC2 UCSF GRCh37 15 28408402 28408402 + synonymous_variant Silent SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 115 17 165 0 ENST00000261609.7:c.10584T>C p.Gly3528= p.G3528= ENST00000261609 NM_004667.5 3528 ggT/ggC 0 -HERC3 UCSF GRCh37 4 89583686 89583686 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 47 39 111 0 ENST00000264345.3:c.1251C>T p.His417= p.H417= ENST00000264345 417 caC/caT 0 -HGS UCSF GRCh37 17 79663016 79663016 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 59 18 101 0 ENST00000329138.4:c.1380G>A p.Leu460= p.L460= ENST00000329138 NM_004712.4 460 ctG/ctA 0 -HHIPL2 UCSF GRCh37 1 222721267 222721267 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 46 24 83 0 ENST00000343410.6:c.120G>A p.Gln40= p.Q40= ENST00000343410 NM_024746.3 40 caG/caA 0 -HIBADH UCSF GRCh37 7 27582634 27582634 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 47 22 83 0 ENST00000265395.2:c.570G>A p.Gly190= p.G190= ENST00000265395 NM_152740.3 190 ggG/ggA 0 -HINFP UCSF GRCh37 11 119001584 119001584 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 104 57 318 0 ENST00000350777.2:c.331C>T p.Pro111Ser p.P111S ENST00000350777 NM_198971.2 111 Ccc/Tcc 0 -HIPK1 UCSF GRCh37 1 114516014 114516014 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 243 66 329 0 ENST00000369558.1:c.3513C>T p.Ala1171= p.A1171= ENST00000369558 1171 gcC/gcT 0 -HIST1H2AH UCSF GRCh37 6 27115070 27115070 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Rec Untested WXS Illumina HiSeq 235 193 280 0 ENST00000377459.1:c.163G>C p.Val55Leu p.V55L ENST00000377459 NM_080596.2 55 Gtg/Ctg 0 -HK3 UCSF GRCh37 5 176314586 176314586 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 26 12 88 0 ENST00000292432.5:c.1466C>T p.Pro489Leu p.P489L ENST00000292432 NM_002115.2 489 cCa/cTa 0 -HLA-DQA2 UCSF GRCh37 6 32713057 32713057 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 499 67 352 0 ENST00000374940.3:c.204C>T p.Val68= p.V68= ENST00000374940 NM_020056.4 68 gtC/gtT 0 -HMOX2 UCSF GRCh37 16 4556969 4556969 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 339 50 568 0 ENST00000219700.6:c.160G>A p.Val54Ile p.V54I ENST00000219700 NM_001286268.1 54 Gtc/Atc 0 -HNRNPH1 UCSF GRCh37 5 179046349 179046349 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 129 74 331 0 ENST00000356731.5:c.457G>A p.Gly153Arg p.G153R ENST00000356731 153 Ggg/Agg 0 -HOXB2 UCSF GRCh37 17 46620758 46620758 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 34 16 30 0 ENST00000330070.4:c.743C>T p.Pro248Leu p.P248L ENST00000330070 NM_002145.3 248 cCg/cTg 0 -HP1BP3 UCSF GRCh37 1 21106840 21106840 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 59 9 55 0 ENST00000312239.5:c.94G>A p.Glu32Lys p.E32K ENST00000312239 NM_016287.3 32 Gag/Aag 0 -HRNR UCSF GRCh37 1 152193713 152193713 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 285 65 301 0 ENST00000368801.2:c.392G>A p.Ser131Asn p.S131N ENST00000368801 NM_001009931.2 131 aGt/aAt 0 -HSP90AB1 UCSF GRCh37 6 44216400 44216400 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 546 86 320 0 ENST00000353801.3:c.34G>A p.Val12Met p.V12M ENST00000353801 NM_001271969.1 12 Gtg/Atg 0 -HSPA4 UCSF GRCh37 5 132426984 132426984 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 191 47 246 1 ENST00000304858.2:c.1478C>A p.Ser493Tyr p.S493Y ENST00000304858 NM_002154.3 493 tCc/tAc 0 -HSPG2 UCSF GRCh37 1 22206919 22206919 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 55 13 103 0 ENST00000374695.3:c.2132C>T p.Ala711Val p.A711V ENST00000374695 NM_005529.5 711 gCc/gTc 0 -HTR7 UCSF GRCh37 10 92508880 92508880 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 36 200 1 ENST00000336152.3:c.1011C>T p.Thr337= p.T337= ENST00000336152 NM_019859.3 337 acC/acT 0 -HUWE1 UCSF GRCh37 X 53579645 53579645 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 57 28 91 0 ENST00000262854.6:c.8704G>A p.Gly2902Ser p.G2902S ENST00000262854 NM_031407.5 2902 Ggc/Agc 0 -IARS2 UCSF GRCh37 1 220273858 220273858 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 84 16 74 0 ENST00000366922.1:c.201C>T p.Phe67= p.F67= ENST00000366922 67 ttC/ttT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 30 74 126 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IDO1 UCSF GRCh37 8 39776390 39776390 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 381 65 450 0 ENST00000518237.1:c.360G>A p.Leu120= p.L120= ENST00000518237 NM_002164.5 120 ctG/ctA 0 -IFITM1 UCSF GRCh37 11 314927 314927 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 48 18 172 0 ENST00000328221.5:c.192G>A p.Arg64= p.R64= ENST00000328221 64 agG/agA 0 -IFT172 UCSF GRCh37 2 27668177 27668177 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 22 4 34 0 ENST00000260570.3:c.5054C>T p.Pro1685Leu p.P1685L ENST00000260570 NM_015662.1 1685 cCc/cTc 0 -IFT172 UCSF GRCh37 2 27704119 27704119 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 39 21 65 0 ENST00000260570.3:c.579G>A p.Leu193= p.L193= ENST00000260570 NM_015662.1 193 ttG/ttA 0 -IGSF10 UCSF GRCh37 3 151166450 151166450 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 189 50 258 0 ENST00000282466.3:c.1319G>A p.Arg440Lys p.R440K ENST00000282466 NM_178822.4 440 aGa/aAa 0 -IGSF22 UCSF GRCh37 11 18730979 18730979 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 67 49 230 0 ENST00000319338.6:c.2650G>A p.Glu884Lys p.E884K ENST00000319338 884 Gag/Aag 0 -IGSF9 UCSF GRCh37 1 159900927 159900927 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 70 23 95 1 ENST00000368094.1:c.1637+1G>A p.X546_splice ENST00000368094 NM_001135050.1 0 -IKBKAP UCSF GRCh37 9 111679912 111679912 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 207 41 185 0 ENST00000374647.5:c.779C>T p.Pro260Leu p.P260L ENST00000374647 NM_003640.3 260 cCc/cTc 0 -IKBKAP UCSF GRCh37 9 111692117 111692117 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 242 28 295 1 ENST00000374647.5:c.235G>A p.Asp79Asn p.D79N ENST00000374647 NM_003640.3 79 Gat/Aat 0 -IL10RB UCSF GRCh37 21 34648906 34648906 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 365 55 295 1 ENST00000290200.2:c.179G>A p.Arg60Lys p.R60K ENST00000290200 NM_000628.4 60 aGg/aAg 0 -INA UCSF GRCh37 10 105037185 105037185 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 31 16 73 0 ENST00000369849.4:c.217G>A p.Asp73Asn p.D73N ENST00000369849 NM_032727.3 73 Gac/Aac 0 -INA UCSF GRCh37 10 105037961 105037961 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 12 6 33 0 ENST00000369849.4:c.993G>A p.Gly331= p.G331= ENST00000369849 NM_032727.3 331 ggG/ggA 0 -INCENP UCSF GRCh37 11 61917663 61917663 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 131 32 184 0 ENST00000394818.3:c.2526C>T p.Ile842= p.I842= ENST00000394818 NM_001040694.1 842 atC/atT 0 -INF2 UCSF GRCh37 14 105169465 105169465 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 78 34 193 0 ENST00000392634.4:c.415G>A p.Val139Met p.V139M ENST00000392634 NM_022489.3 139 Gtg/Atg 0 -INO80 UCSF GRCh37 15 41289801 41289801 + splice_acceptor_variant Splice_Site SNP T T A NOVEL P21_Rec Untested WXS Illumina HiSeq 65 17 86 1 ENST00000361937.3:c.3498-2A>T p.X1166_splice ENST00000361937 0 -INO80 UCSF GRCh37 15 41313228 41313228 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 94 30 135 0 ENST00000361937.3:c.3144G>A p.Gln1048= p.Q1048= ENST00000361937 1048 caG/caA 0 -INPPL1 UCSF GRCh37 11 71948227 71948227 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Rec Untested WXS Illumina HiSeq 104 96 223 0 ENST00000298229.2:c.2939G>C p.Ser980Thr p.S980T ENST00000298229 NM_001567.3 980 aGc/aCc 0 -INSR UCSF GRCh37 19 7141710 7141710 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 110 22 148 0 ENST00000302850.5:c.2660G>A p.Ser887Asn p.S887N ENST00000302850 NM_000208.2 887 aGt/aAt 0 -INSRR UCSF GRCh37 1 156828357 156828357 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 109 23 137 0 ENST00000368195.3:c.57C>T p.Ser19= p.S19= ENST00000368195 NM_014215.2 19 tcC/tcT 0 -INTS10 UCSF GRCh37 8 19703277 19703277 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 76 21 80 0 ENST00000397977.3:c.1945G>A p.Glu649Lys p.E649K ENST00000397977 NM_018142.2 649 Gaa/Aaa 0 -INVS UCSF GRCh37 9 103054908 103054908 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 95 31 125 0 ENST00000262457.2:c.2369C>T p.Pro790Leu p.P790L ENST00000262457 NM_014425.3 790 cCc/cTc 0 -IQGAP3 UCSF GRCh37 1 156504354 156504354 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 58 10 72 0 ENST00000361170.2:c.3679G>A p.Gly1227Arg p.G1227R ENST00000361170 NM_178229.4 1227 Ggg/Agg 0 -IRAK4 UCSF GRCh37 12 44165049 44165049 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 65 27 86 0 ENST00000551736.1:c.188G>A p.Gly63Glu p.G63E ENST00000551736 NM_001114182.2 63 gGa/gAa 0 -IRF2BP2 UCSF GRCh37 1 234743379 234743379 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 147 38 212 0 ENST00000366609.3:c.1268C>T p.Ser423Phe p.S423F ENST00000366609 NM_182972.2 423 tCc/tTc 0 -IRF2BPL UCSF GRCh37 14 77491854 77491854 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 96 45 169 0 ENST00000238647.3:c.2282G>A p.Gly761Glu p.G761E ENST00000238647 NM_024496.3 761 gGa/gAa 0 -IRF2BPL UCSF GRCh37 14 77492290 77492290 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 17 5 21 0 ENST00000238647.3:c.1846G>A p.Ala616Thr p.A616T ENST00000238647 NM_024496.3 616 Gcc/Acc 0 -ITGB1 UCSF GRCh37 10 33211251 33211251 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 195 58 176 0 ENST00000302278.3:c.1062G>A p.Lys354= p.K354= ENST00000302278 NM_002211.3 354 aaG/aaA 0 -ITGB2 UCSF GRCh37 21 46306818 46306818 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 113 14 112 0 ENST00000302347.5:c.2081-1G>A p.X694_splice ENST00000302347 NM_000211.3 0 -ITIH4 UCSF GRCh37 3 52848224 52848224 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 50 16 77 0 ENST00000266041.4:c.2626+1G>A p.X876_splice ENST00000266041 NM_002218.4 0 -ITIH5 UCSF GRCh37 10 7618900 7618900 + synonymous_variant Silent SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 111 58 137 0 ENST00000256861.6:c.1494C>A p.Ala498= p.A498= ENST00000256861 NM_030569.6 498 gcC/gcA 0 -JAKMIP2 UCSF GRCh37 5 147020296 147020296 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 93 49 233 0 ENST00000265272.5:c.1372C>T p.Pro458Ser p.P458S ENST00000265272 NM_014790.4 458 Cca/Tca 0 -JAM2 UCSF GRCh37 21 27071072 27071072 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 145 24 130 0 ENST00000480456.1:c.478G>A p.Gly160Arg p.G160R ENST00000480456 NM_001270407.1 160 Ggg/Agg 0 -JARID2 UCSF GRCh37 6 15496685 15496685 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 156 22 147 0 ENST00000341776.2:c.1229G>A p.Ser410Asn p.S410N ENST00000341776 NM_004973.3 410 aGt/aAt 0 -KAT6B UCSF GRCh37 10 76737107 76737107 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 98 22 140 0 ENST00000287239.4:c.2027G>A p.Ser676Asn p.S676N ENST00000287239 NM_001256468.1 676 aGt/aAt 0 -KCNH7 UCSF GRCh37 2 163302755 163302755 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 93 25 200 0 ENST00000332142.5:c.1327G>A p.Glu443Lys p.E443K ENST00000332142 NM_033272.3 443 Gaa/Aaa 0 -KCNJ14 UCSF GRCh37 19 48967778 48967778 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 121 30 147 0 ENST00000342291.2:c.1055C>T p.Thr352Ile p.T352I ENST00000342291 NM_013348.3 352 aCt/aTt 0 -KCNJ3 UCSF GRCh37 2 155711377 155711377 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 128 31 197 0 ENST00000295101.2:c.1058C>T p.Thr353Ile p.T353I ENST00000295101 NM_002239.3 353 aCc/aTc 0 -KCNMA1 UCSF GRCh37 10 78870030 78870030 + synonymous_variant Silent SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 194 82 334 0 ENST00000286628.8:c.1032T>C p.Tyr344= p.Y344= ENST00000286628 NM_001161352.1 344 taT/taC 0 -KCNQ5 UCSF GRCh37 6 73332281 73332281 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 16 7 44 0 ENST00000370398.1:c.364C>T p.Pro122Ser p.P122S ENST00000370398 NM_019842.3 122 Ccc/Tcc 0 -KCTD15 UCSF GRCh37 19 34302256 34302256 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 31 14 60 0 ENST00000430256.3:c.492G>A p.Arg164= p.R164= ENST00000430256 164 cgG/cgA 0 -KDM4D UCSF GRCh37 11 94731128 94731128 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 115 59 318 0 ENST00000335080.5:c.592C>T p.Leu198Phe p.L198F ENST00000335080 NM_018039.2 198 Ctt/Ttt 0 -KDM5C UCSF GRCh37 X 53225875 53225875 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 36 27 78 0 ENST00000375401.3:c.2974G>A p.Glu992Lys p.E992K ENST00000375401 NM_004187.3 992 Gag/Aag 0 -KDM5D UCSF GRCh37 Y 21877842 21877842 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 50 46 106 0 ENST00000317961.4:c.2080G>A p.Glu694Lys p.E694K ENST00000317961 NM_004653.4 694 Gaa/Aaa 0 -KDM5D UCSF GRCh37 Y 21868399 21868399 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 13 11 45 0 ENST00000317961.4:c.4197G>A p.Glu1399= p.E1399= ENST00000317961 NM_004653.4 1399 gaG/gaA 0 -KIAA0020 UCSF GRCh37 9 2837245 2837245 + missense_variant Missense_Mutation SNP T T A NOVEL P21_Rec Untested WXS Illumina HiSeq 71 245 542 0 ENST00000397885.2:c.239A>T p.Asn80Ile p.N80I ENST00000397885 NM_014878.4 80 aAc/aTc 0 -KIAA0319L UCSF GRCh37 1 35944779 35944779 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 76 26 125 0 ENST00000325722.3:c.701C>T p.Thr234Ile p.T234I ENST00000325722 NM_024874.4 234 aCc/aTc 0 -KIAA0753 UCSF GRCh37 17 6531854 6531854 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 176 53 210 0 ENST00000361413.3:c.301G>A p.Val101Ile p.V101I ENST00000361413 NM_014804.2 101 Gtc/Atc 0 -KIAA0825 UCSF GRCh37 5 93775796 93775796 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 182 29 233 0 ENST00000513200.3:c.2388G>A p.Glu796= p.E796= ENST00000513200 NM_001145678.1 796 gaG/gaA 0 -KIAA0889 UCSF GRCh37 20 35421664 35421664 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 73 15 82 0 ENST00000237536.4:c.4821C>T p.Val1607= p.V1607= ENST00000237536 NM_080627.2 1607 gtC/gtT 0 -KIAA1191 UCSF GRCh37 5 175774703 175774703 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 102 14 215 0 ENST00000298569.4:c.818C>T p.Pro273Leu p.P273L ENST00000298569 NM_020444.3 273 cCc/cTc 0 -KIAA1199 UCSF GRCh37 15 81201554 81201554 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 93 18 139 0 ENST00000220244.3:c.1704G>A p.Arg568= p.R568= ENST00000220244 NM_018689.1 568 agG/agA 0 -KIAA1211 UCSF GRCh37 4 57181573 57181573 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 70 8 64 0 ENST00000264229.6:c.1905G>A p.Gly635= p.G635= ENST00000264229 NM_020722.1 635 ggG/ggA 0 -KIAA1486 UCSF GRCh37 2 226378195 226378195 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 197 82 368 0 ENST00000272907.6:c.330C>T p.Cys110= p.C110= ENST00000272907 NM_020864.1 110 tgC/tgT 0 -KIAA1704 UCSF GRCh37 13 45589195 45589195 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 26 8 90 0 ENST00000379151.4:c.517G>A p.Glu173Lys p.E173K ENST00000379151 NM_018559.2 173 Gaa/Aaa 0 -KIAA2018 UCSF GRCh37 3 113376584 113376584 + synonymous_variant Silent SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 234 77 296 0 ENST00000316407.4:c.3945A>G p.Pro1315= p.P1315= ENST00000316407 NM_001009899.2 1315 ccA/ccG 0 -KIF13A UCSF GRCh37 6 17817420 17817422 + frameshift_variant Frame_Shift_Del DEL CTA CTA TT NOVEL P21_Rec Untested WXS Illumina HiSeq 30 0 ENST00000259711.6:c.1829_1831delinsAA p.Leu610GlnfsTer8 p.L610Qfs*8 ENST00000259711 NM_022113.5 610 cTAGaa/cAAaa 0 -KIF17 UCSF GRCh37 1 20991147 20991147 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 71 9 98 0 ENST00000247986.2:c.3020C>T p.Ser1007Phe p.S1007F ENST00000247986 1007 tCc/tTc 0 -KIF1B UCSF GRCh37 1 10363361 10363361 + intron_variant Intron SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 120 21 132 0 ENST00000377086.1:c.2115+6057G>A *705* ENST00000377086 0 -KIF20B UCSF GRCh37 10 91483742 91483742 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 56 11 112 0 ENST00000371728.3:c.1744G>A p.Asp582Asn p.D582N ENST00000371728 NM_001284259.1 582 Gac/Aac 0 -KIF23 UCSF GRCh37 15 69737233 69737233 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 158 43 210 0 ENST00000260363.4:c.2484G>A p.Met828Ile p.M828I ENST00000260363 NM_138555.3 828 atG/atA 0 -KIF23 UCSF GRCh37 15 69738636 69738636 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 100 21 96 0 ENST00000260363.4:c.2729G>A p.Arg910Lys p.R910K ENST00000260363 NM_138555.3 910 aGa/aAa 0 -KIF6 UCSF GRCh37 6 39563952 39563952 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 98 89 98 0 ENST00000287152.7:c.724C>T p.Arg242Ter p.R242* ENST00000287152 NM_145027.4 242 Cga/Tga 0 -KIFC1 UCSF GRCh37 6 33372666 33372666 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 153 20 120 0 ENST00000428849.2:c.794G>A p.Ser265Asn p.S265N ENST00000428849 NM_002263.3 265 aGc/aAc 0 -KL UCSF GRCh37 13 33591228 33591228 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 27 3 46 0 ENST00000380099.3:c.650G>A p.Arg217Lys p.R217K ENST00000380099 NM_004795.3 217 aGg/aAg 0 -KLHDC7B UCSF GRCh37 22 50988351 50988351 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 24 4 39 0 ENST00000395676.2:c.1756C>T p.Pro586Ser p.P586S ENST00000395676 NM_138433.3 586 Cct/Tct 0 -KLHL20 UCSF GRCh37 1 173702880 173702880 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 146 29 190 0 ENST00000209884.4:c.52G>A p.Gly18Arg p.G18R ENST00000209884 NM_014458.3 18 Gga/Aga 0 -KLK3 UCSF GRCh37 19 51362853 51362853 + intron_variant Intron SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 104 25 159 0 ENST00000326003.2:c.631-375C>T *211* ENST00000326003 NM_001030047.1 0 -KLRC2 UCSF GRCh37 12 10586474 10586474 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 185 68 163 1 ENST00000381902.2:c.399G>A p.Lys133= p.K133= ENST00000381902 NM_002260.3 133 aaG/aaA 0 -KMO UCSF GRCh37 1 241755331 241755331 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 183 37 233 0 ENST00000366559.4:c.1337C>T p.Ser446Leu p.S446L ENST00000366559 NM_003679.4 446 tCa/tTa 0 -KPNA2 UCSF GRCh37 17 66040553 66040553 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 398 115 528 0 ENST00000330459.3:c.1281C>T p.Asn427= p.N427= ENST00000330459 NM_002266.2 427 aaC/aaT 0 -KPNB1 UCSF GRCh37 17 45755738 45755738 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 122 17 140 0 ENST00000290158.4:c.2312G>A p.Gly771Glu p.G771E ENST00000290158 NM_002265.5 771 gGa/gAa 0 -KRT9 UCSF GRCh37 17 39728026 39728026 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 19 12 38 0 ENST00000246662.4:c.219C>T p.Tyr73= p.Y73= ENST00000246662 NM_000226.3 73 taC/taT 0 -KRTAP4-1 UCSF GRCh37 17 39341039 39341039 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 93 37 160 0 ENST00000398472.1:c.68C>A p.Thr23Asn p.T23N ENST00000398472 23 aCc/aAc 0 -KSR1 UCSF GRCh37 17 25909824 25909824 + missense_variant Missense_Mutation SNP C C T snp132_rs34914492 P21_Rec Untested WXS Illumina HiSeq 44 14 77 0 ENST00000398988.3:c.262C>T p.Pro88Ser p.P88S ENST00000398988 NM_014238.1 88 Cca/Tca 0 -LAMA1 UCSF GRCh37 18 7023359 7023359 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 70 19 110 0 ENST00000389658.3:c.2505C>T p.Tyr835= p.Y835= ENST00000389658 NM_005559.3 835 taC/taT 0 -LAMA3 UCSF GRCh37 18 21494764 21494764 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 35 8 51 0 ENST00000313654.9:c.7584C>T p.Leu2528= p.L2528= ENST00000313654 NM_198129.1 2528 ctC/ctT 0 -LAMB4 UCSF GRCh37 7 107671346 107671346 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 163 32 228 0 ENST00000205386.4:c.4897C>T p.Leu1633= p.L1633= ENST00000205386 1633 Ctg/Ttg 0 -LETM1 UCSF GRCh37 4 1823925 1823925 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 99 11 119 0 ENST00000302787.2:c.1591G>A p.Val531Met p.V531M ENST00000302787 NM_012318.2 531 Gtg/Atg 0 -LETM1 UCSF GRCh37 4 1827392 1827392 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 61 20 74 0 ENST00000302787.2:c.1099G>A p.Val367Met p.V367M ENST00000302787 NM_012318.2 367 Gtg/Atg 0 -LGALS14 UCSF GRCh37 19 40197953 40197953 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 366 97 482 1 ENST00000392052.3:c.228G>A p.Glu76= p.E76= ENST00000392052 NM_020129.2 76 gaG/gaA 0 -LIX1L UCSF GRCh37 1 145487444 145487444 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 118 25 131 0 ENST00000369308.3:c.433G>A p.Gly145Arg p.G145R ENST00000369308 NM_153713.2 145 Gga/Aga 0 -LMOD2 UCSF GRCh37 7 123303046 123303046 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 36 16 65 0 ENST00000458573.2:c.1406C>T p.Ala469Val p.A469V ENST00000458573 NM_207163.1 469 gCc/gTc 0 -LOXL3 UCSF GRCh37 2 74779470 74779470 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 34 9 82 0 ENST00000264094.3:c.292G>A p.Ala98Thr p.A98T ENST00000264094 NM_032603.2 98 Gcc/Acc 0 -LPA UCSF GRCh37 6 160952788 160952788 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 65 40 221 0 ENST00000316300.5:c.6096G>A p.Trp2032Ter p.W2032* ENST00000316300 2032 tgG/tgA 0 -LPA UCSF GRCh37 6 161056204 161056204 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 487 62 972 0 ENST00000316300.5:c.1026G>A p.Ala342= p.A342= ENST00000316300 342 gcG/gcA 0 -LPAR3 UCSF GRCh37 1 85331417 85331417 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 456 91 694 0 ENST00000370611.3:c.387G>A p.Met129Ile p.M129I ENST00000370611 NM_012152.2 129 atG/atA 0 -LPHN3 UCSF GRCh37 4 62453029 62453029 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 97 59 235 0 ENST00000514591.1:c.140G>A p.Gly47Glu p.G47E ENST00000514591 47 gGa/gAa 0 -LRMP UCSF GRCh37 12 25232607 25232607 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 152 35 119 0 ENST00000354454.3:c.154C>T p.Leu52= p.L52= ENST00000354454 NM_006152.3 52 Ctg/Ttg 0 -LRRC19 UCSF GRCh37 9 26995558 26995558 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 39 8 46 0 ENST00000380055.5:c.1074C>T p.Asp358= p.D358= ENST00000380055 NM_022901.2 358 gaC/gaT 0 -LRRC8C UCSF GRCh37 1 90179564 90179564 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 139 41 212 0 ENST00000370454.4:c.1435G>A p.Val479Ile p.V479I ENST00000370454 NM_032270.4 479 Gtc/Atc 0 -LRRC8C UCSF GRCh37 1 90180190 90180190 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 118 34 121 0 ENST00000370454.4:c.2061C>T p.Tyr687= p.Y687= ENST00000370454 NM_032270.4 687 taC/taT 0 -LRRIQ1 UCSF GRCh37 12 85432020 85432020 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 76 21 126 0 ENST00000393217.2:c.66C>T p.Ser22= p.S22= ENST00000393217 NM_001079910.1 22 tcC/tcT 0 -LRRK2 UCSF GRCh37 12 40758823 40758823 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 143 27 136 0 ENST00000298910.7:c.7361C>T p.Ser2454Leu p.S2454L ENST00000298910 NM_198578.3 2454 tCg/tTg 0 -LRRTM2 UCSF GRCh37 5 138209046 138209046 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 163 93 440 0 ENST00000274711.6:c.1204G>A p.Gly402Ser p.G402S ENST00000274711 NM_015564.2 402 Ggc/Agc 0 -LTBP2 UCSF GRCh37 14 75078270 75078270 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.006,1000g2011may_all_0.0052 P21_Rec Untested WXS Illumina HiSeq 32 6 40 0 ENST00000261978.4:c.378C>T p.Pro126= p.P126= ENST00000261978 NM_000428.2 126 ccC/ccT 0 -LTN1 UCSF GRCh37 21 30329684 30329684 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 150 28 114 0 ENST00000361371.5:c.2862G>T p.Trp954Cys p.W954C ENST00000361371 954 tgG/tgT 0 -M6PR UCSF GRCh37 12 9098119 9098119 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 169 36 199 0 ENST00000000412.3:c.238G>A p.Glu80Lys p.E80K ENST00000000412 NM_002355.3 80 Gaa/Aaa 0 -MACF1 UCSF GRCh37 1 39753082 39753082 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 334 60 462 0 ENST00000372915.3:c.1648G>A p.Ala550Thr p.A550T ENST00000372915 550 Gca/Aca 0 -MAGI2 UCSF GRCh37 7 78636498 78636498 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 77 20 132 0 ENST00000354212.4:c.326G>A p.Arg109His p.R109H ENST00000354212 NM_012301.3 109 cGt/cAt 0 -MAN2A1 UCSF GRCh37 5 109200736 109200736 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 25 110 0 ENST00000261483.4:c.3172-1G>A p.X1058_splice ENST00000261483 NM_002372.2 0 -MAP2 UCSF GRCh37 2 210560059 210560059 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 352 66 306 0 ENST00000360351.4:c.3165G>A p.Gln1055= p.Q1055= ENST00000360351 NM_002374.3 1055 caG/caA 0 -MAP3K1 UCSF GRCh37 5 56177036 56177036 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 87 17 85 0 ENST00000399503.3:c.2306C>T p.Pro769Leu p.P769L ENST00000399503 NM_005921.1 769 cCt/cTt 0 -MAP3K14 UCSF GRCh37 17 43344879 43344879 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 58 15 69 0 ENST00000344686.2:n.2326G>A *776* ENST00000344686 0 -MAP3K6 UCSF GRCh37 1 27683593 27683593 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 35 8 55 0 ENST00000357582.2:c.3271C>T p.Leu1091Phe p.L1091F ENST00000357582 1091 Ctc/Ttc 0 -MAP4K2 UCSF GRCh37 11 64557083 64557083 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 25 8 47 0 ENST00000294066.2:c.2389G>A p.Glu797Lys p.E797K ENST00000294066 NM_004579.3 797 Gag/Aag 0 -MAP4K4 UCSF GRCh37 2 102488148 102488148 + intron_variant Intron SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 90 30 173 0 ENST00000347699.4:c.2517+1271G>A *839* ENST00000347699 NM_145687.3 0 -MAP6 UCSF GRCh37 11 75299168 75299168 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 173 46 231 0 ENST00000304771.3:c.1378G>A p.Asp460Asn p.D460N ENST00000304771 NM_033063.1 460 Gac/Aac 0 -MAP7D1 UCSF GRCh37 1 36644187 36644187 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 13 4 19 0 ENST00000373151.2:c.1876G>A p.Glu626Lys p.E626K ENST00000373151 NM_018067.3 626 Gaa/Aaa 0 -MAP7D1 UCSF GRCh37 1 36638150 36638150 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 33 8 45 0 ENST00000373151.2:c.546G>A p.Leu182= p.L182= ENST00000373151 NM_018067.3 182 ctG/ctA 0 -MAPK13 UCSF GRCh37 6 36106555 36106555 + missense_variant,splice_region_variant Missense_Mutation SNP A A T NOVEL P21_Rec Untested WXS Illumina HiSeq 91 14 73 0 ENST00000211287.4:c.839A>T p.Gln280Leu p.Q280L ENST00000211287 NM_002754.4 280 cAg/cTg 0 -MAPKAPK5 UCSF GRCh37 12 112321443 112321443 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 210 73 407 0 ENST00000551404.2:c.719C>T p.Pro240Leu p.P240L ENST00000551404 240 cCt/cTt 0 -MBTPS1 UCSF GRCh37 16 84089694 84089694 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 131 30 175 0 ENST00000343411.3:c.2878G>A p.Val960Met p.V960M ENST00000343411 NM_003791.2 960 Gtg/Atg 0 -MCC UCSF GRCh37 5 112478934 112478934 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 75 17 80 0 ENST00000302475.4:c.295C>T p.Leu99= p.L99= ENST00000302475 NM_002387.2 99 Ctg/Ttg 0 -MCM3AP UCSF GRCh37 21 47695166 47695166 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 45 14 55 0 ENST00000291688.1:c.1932G>A p.Lys644= p.K644= ENST00000291688 NM_003906.3 644 aaG/aaA 0 -MCM4 UCSF GRCh37 8 48885522 48885522 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 50 12 81 0 ENST00000262105.2:c.2034G>A p.Glu678= p.E678= ENST00000262105 NM_005914.3 678 gaG/gaA 0 -MCM6 UCSF GRCh37 2 136610432 136610432 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 79 24 112 0 ENST00000264156.2:c.1680G>A p.Glu560= p.E560= ENST00000264156 NM_005915.5 560 gaG/gaA 0 -MECOM UCSF GRCh37 3 169099279 169099279 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 112 91 176 1 ENST00000486748.1:c.143T>C p.Ile48Thr p.I48T ENST00000486748 48 aTa/aCa 0 -MED12 UCSF GRCh37 X 70341647 70341647 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 53 28 73 0 ENST00000374080.3:c.1082G>A p.Gly361Asp p.G361D ENST00000374080 361 gGc/gAc 0 -MED12 UCSF GRCh37 X 70347192 70347192 + synonymous_variant Silent SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 37 24 48 0 ENST00000374080.3:c.2856T>C p.Cys952= p.C952= ENST00000374080 952 tgT/tgC 0 -MFAP1 UCSF GRCh37 15 44109561 44109561 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 190 47 212 0 ENST00000267812.3:c.165G>A p.Glu55= p.E55= ENST00000267812 NM_005926.2 55 gaG/gaA 0 -MFHAS1 UCSF GRCh37 8 8748927 8748927 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 102 47 150 0 ENST00000276282.6:c.1642G>A p.Glu548Lys p.E548K ENST00000276282 NM_004225.2 548 Gag/Aag 0 -MFHAS1 UCSF GRCh37 8 8749257 8749257 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 86 27 151 0 ENST00000276282.6:c.1312C>T p.Pro438Ser p.P438S ENST00000276282 NM_004225.2 438 Cca/Tca 0 -MFSD8 UCSF GRCh37 4 128861044 128861044 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 34 39 127 0 ENST00000296468.3:c.662G>A p.Gly221Glu p.G221E ENST00000296468 NM_152778.2 221 gGa/gAa 0 -MICAL3 UCSF GRCh37 22 18347444 18347444 + intron_variant Intron SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 22 3 36 0 ENST00000441493.2:c.2605+221C>T *869* ENST00000441493 NM_015241.2 0 -MIER1 UCSF GRCh37 1 67411859 67411859 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 153 37 162 0 ENST00000355356.3:c.61G>A p.Glu21Lys p.E21K ENST00000355356 NM_001077701.2 21 Gaa/Aaa 0 -MIOS UCSF GRCh37 7 7646697 7646697 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 58 9 122 1 ENST00000340080.4:c.2602G>A p.Val868Ile p.V868I ENST00000340080 NM_019005.3 868 Gta/Ata 0 -MKI67 UCSF GRCh37 10 129902612 129902612 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 131 72 386 0 ENST00000368654.3:c.7492G>A p.Val2498Ile p.V2498I ENST00000368654 NM_002417.4 2498 Gtc/Atc 0 -MKRN2 UCSF GRCh37 3 12623345 12623345 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 284 76 310 0 ENST00000170447.7:c.1007C>T p.Thr336Ile p.T336I ENST00000170447 NM_014160.4 336 aCc/aTc 0 -MLF2 UCSF GRCh37 12 6861100 6861100 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 157 26 183 0 ENST00000203630.5:c.171G>A p.Arg57= p.R57= ENST00000203630 57 cgG/cgA 0 -MLL UCSF GRCh37 11 118373420 118373420 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 101 23 259 1 ENST00000389506.5:c.6804G>A p.Arg2268= p.R2268= ENST00000389506 2268 agG/agA 0 -MLL2 UCSF GRCh37 12 49443842 49443842 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 85 32 128 0 ENST00000301067.7:c.3529G>A p.Gly1177Arg p.G1177R ENST00000301067 NM_003482.3 1177 Ggg/Agg 0 -MLL3 UCSF GRCh37 7 152027799 152027799 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 92 37 178 0 ENST00000262189.6:c.276G>A p.Glu92= p.E92= ENST00000262189 NM_170606.2 92 gaG/gaA 0 -MMS19 UCSF GRCh37 10 99236698 99236698 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 150 61 336 0 ENST00000370782.2:c.516C>T p.Asp172= p.D172= ENST00000370782 172 gaC/gaT 0 -MOV10L1 UCSF GRCh37 22 50572463 50572463 + synonymous_variant Silent SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 42 8 42 0 ENST00000262794.5:c.1938A>G p.Ala646= p.A646= ENST00000262794 NM_018995.2 646 gcA/gcG 0 -MRPL39 UCSF GRCh37 21 26973701 26973701 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 89 15 84 0 ENST00000352957.4:c.499G>A p.Val167Ile p.V167I ENST00000352957 NM_017446.3 167 Gtc/Atc 0 -MRPL48 UCSF GRCh37 11 73556001 73556001 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 183 56 210 0 ENST00000310614.7:c.351C>T p.Leu117= p.L117= ENST00000310614 NM_016055.5 117 ctC/ctT 0 -MRPS18B UCSF GRCh37 6 30593516 30593516 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 234 44 198 0 ENST00000259873.4:c.719C>T p.Pro240Leu p.P240L ENST00000259873 NM_014046.3 240 cCt/cTt 0 -MRPS7 UCSF GRCh37 17 73257992 73257992 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 20 3 22 0 ENST00000245539.6:c.11C>T p.Pro4Leu p.P4L ENST00000245539 NM_015971.3 4 cCc/cTc 0 -MTERFD1 UCSF GRCh37 8 97256170 97256170 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 173 32 133 0 ENST00000287025.3:c.1036C>T p.His346Tyr p.H346Y ENST00000287025 NM_015942.3 346 Cac/Tac 0 -MTHFR UCSF GRCh37 1 11862938 11862938 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 71 20 160 0 ENST00000376590.3:c.236G>A p.Arg79Lys p.R79K ENST00000376590 NM_005957.4 79 aGg/aAg 0 -MTMR10 UCSF GRCh37 15 31253149 31253149 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 235 48 264 0 ENST00000435680.1:c.693C>T p.Ile231= p.I231= ENST00000435680 NM_017762.2 231 atC/atT 0 -MUC16 UCSF GRCh37 19 9071859 9071859 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 445 115 601 1 ENST00000397910.4:c.15587G>A p.Ser5196Asn p.S5196N ENST00000397910 NM_024690.2 5196 aGt/aAt 0 -MUC5B UCSF GRCh37 11 1264731 1264731 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 86 38 219 0 ENST00000529681.1:c.6621C>T p.Pro2207= p.P2207= ENST00000529681 NM_002458.2 2207 ccC/ccT 0 -MX1 UCSF GRCh37 21 42817417 42817417 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Rec Untested WXS Illumina HiSeq 215 46 199 0 ENST00000398598.3:c.1051C>G p.Gln351Glu p.Q351E ENST00000398598 NM_002462.3 351 Cag/Gag 0 -MYCBP2 UCSF GRCh37 13 77844511 77844511 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 38 28 109 0 ENST00000357337.6:c.994C>T p.Gln332Ter p.Q332* ENST00000357337 332 Cag/Tag 0 -MYCBP2 UCSF GRCh37 13 77635322 77635322 + stop_gained Nonsense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 39 19 99 0 ENST00000357337.6:c.12904G>T p.Glu4302Ter p.E4302* ENST00000357337 4302 Gaa/Taa 0 -MYH1 UCSF GRCh37 17 10402076 10402076 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 153 55 255 0 ENST00000226207.5:c.4048C>T p.Gln1350Ter p.Q1350* ENST00000226207 NM_005963.3 1350 Cag/Tag 0 -MYH6 UCSF GRCh37 14 23873582 23873582 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 142 63 267 0 ENST00000356287.3:c.658C>T p.Gln220Ter p.Q220* ENST00000356287 220 Cag/Tag 0 -MYH9 UCSF GRCh37 22 36681211 36681211 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 120 30 201 0 ENST00000216181.5:c.5439G>A p.Glu1813= p.E1813= ENST00000216181 NM_002473.4 1813 gaG/gaA 0 -MYLK UCSF GRCh37 3 123333125 123333125 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Rec Untested WXS Illumina HiSeq 191 71 283 0 ENST00000360304.3:c.5572G>C p.Asp1858His p.D1858H ENST00000360304 NM_053025.3 1858 Gac/Cac 0 -MYO1C UCSF GRCh37 17 1384175 1384175 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 61 22 107 0 ENST00000359786.5:c.632C>T p.Ala211Val p.A211V ENST00000359786 NM_001080779.1 211 gCc/gTc 0 -MYO1G UCSF GRCh37 7 45005692 45005692 + missense_variant Missense_Mutation SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 41 9 78 0 ENST00000258787.7:c.2137A>G p.Ile713Val p.I713V ENST00000258787 NM_033054.2 713 Att/Gtt 0 -MYO7B UCSF GRCh37 2 128378042 128378042 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 26 15 63 0 ENST00000409816.2:c.3447+1G>A p.X1149_splice ENST00000409816 0 -MZT2A UCSF GRCh37 2 132241665 132241665 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 101 36 196 0 ENST00000309451.6:c.446C>T p.Pro149Leu p.P149L ENST00000309451 NM_001085365.1 149 cCt/cTt 0 -N4BP2 UCSF GRCh37 4 40144355 40144355 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 78 23 144 0 ENST00000261435.6:c.4848C>T p.Tyr1616= p.Y1616= ENST00000261435 NM_018177.4 1616 taC/taT 0 -NALCN UCSF GRCh37 13 101725987 101725987 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 42 15 111 0 ENST00000251127.6:c.4146G>A p.Leu1382= p.L1382= ENST00000251127 NM_052867.2 1382 ctG/ctA 0 -NAT8L UCSF GRCh37 4 2062856 2062856 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 29 9 38 0 ENST00000423729.2:c.508G>A p.Ala170Thr p.A170T ENST00000423729 NM_178557.3 170 Gcg/Acg 0 -NBPF10 UCSF GRCh37 1 145327548 145327548 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 23 7 17 0 ENST00000342960.5:c.4105A>G p.Asn1369Asp p.N1369D ENST00000342960 NM_001039703.5 1369 Aat/Gat 0 -NCBP1 UCSF GRCh37 9 100410414 100410414 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 89 15 123 1 ENST00000375147.3:c.806C>T p.Pro269Leu p.P269L ENST00000375147 NM_002486.4 269 cCt/cTt 0 -NCOA4 UCSF GRCh37 10 51585212 51585212 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 180 70 372 0 ENST00000452682.1:c.1359G>A p.Lys453= p.K453= ENST00000452682 NM_001145260.1 453 aaG/aaA 0 -NCOR2 UCSF GRCh37 12 124885083 124885083 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 101 47 212 0 ENST00000405201.1:c.1777G>A p.Glu593Lys p.E593K ENST00000405201 593 Gag/Aag 0 -NES UCSF GRCh37 1 156641450 156641450 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 138 40 138 0 ENST00000368223.3:c.2530G>A p.Glu844Lys p.E844K ENST00000368223 NM_006617.1 844 Gaa/Aaa 0 -NET1 UCSF GRCh37 10 5494478 5494478 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 17 88 0 ENST00000355029.4:c.521G>A p.Arg174Lys p.R174K ENST00000355029 NM_001047160.2 174 aGa/aAa 0 -NFASC UCSF GRCh37 1 204948528 204948528 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 244 60 345 0 ENST00000339876.6:c.2017G>A p.Gly673Arg p.G673R ENST00000339876 NM_001005388.2 673 Ggg/Agg 0 -NFATC3 UCSF GRCh37 16 68160380 68160380 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 128 43 182 0 ENST00000346183.3:c.1268C>T p.Pro423Leu p.P423L ENST00000346183 NM_173165.2 423 cCt/cTt 0 -NFIX UCSF GRCh37 19 13184830 13184830 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 158 38 220 0 ENST00000592199.1:c.808C>T p.Pro270Ser p.P270S ENST00000592199 270 Cct/Tct 0 -NHSL1 UCSF GRCh37 6 138745224 138745224 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 20 8 54 0 ENST00000427025.2:c.4827G>A p.Glu1609= p.E1609= ENST00000427025 NM_020464.1 1609 gaG/gaA 0 -NIN UCSF GRCh37 14 51211012 51211012 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 130 48 223 0 ENST00000382041.3:c.5136G>A p.Leu1712= p.L1712= ENST00000382041 NM_016350.4 1712 ctG/ctA 0 -NKTR UCSF GRCh37 3 42679042 42679042 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 176 69 316 1 ENST00000232978.8:c.1846C>T p.Pro616Ser p.P616S ENST00000232978 NM_005385.3 616 Cct/Tct 0 -NLGN4X UCSF GRCh37 X 6069303 6069303 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 88 55 155 0 ENST00000275857.6:c.205C>T p.Pro69Ser p.P69S ENST00000275857 NM_020742.2 69 Cca/Tca 0 -NLRC3 UCSF GRCh37 16 3614574 3614574 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 59 20 109 0 ENST00000359128.5:c.364G>A p.Val122Ile p.V122I ENST00000359128 122 Gtc/Atc 0 -NLRC3 UCSF GRCh37 16 3594294 3594294 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 120 42 206 0 ENST00000359128.5:c.2720G>A p.Cys907Tyr p.C907Y ENST00000359128 907 tGt/tAt 0 -NLRP8 UCSF GRCh37 19 56467155 56467155 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 130 38 144 0 ENST00000291971.3:c.1731C>T p.Cys577= p.C577= ENST00000291971 NM_176811.2 577 tgC/tgT 0 -NOS2 UCSF GRCh37 17 26091083 26091083 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 21 8 34 0 ENST00000313735.6:c.2516C>T p.Thr839Ile p.T839I ENST00000313735 NM_000625.4 839 aCc/aTc 0 -NOTCH2 UCSF GRCh37 1 120460309 120460309 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 158 28 164 0 ENST00000256646.2:c.6006C>T p.Asn2002= p.N2002= ENST00000256646 NM_024408.3 2002 aaC/aaT 0 -NOTCH3 UCSF GRCh37 19 15289943 15289943 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 37 27 61 0 ENST00000263388.2:c.3611C>T p.Ala1204Val p.A1204V ENST00000263388 NM_000435.2 1204 gCa/gTa 0 -NOTCH4 UCSF GRCh37 6 32165142 32165142 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 115 13 109 0 ENST00000375023.3:c.4986G>A p.Gln1662= p.Q1662= ENST00000375023 NM_004557.3 1662 caG/caA 0 -NPL UCSF GRCh37 1 182797922 182797922 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 121 38 125 0 ENST00000258317.2:c.842C>T p.Pro281Leu p.P281L ENST00000258317 281 cCc/cTc 0 -NPTN UCSF GRCh37 15 73862565 73862565 + missense_variant Missense_Mutation SNP A A T NOVEL P21_Rec Untested WXS Illumina HiSeq 129 50 164 0 ENST00000345330.4:c.1040T>A p.Leu347Gln p.L347Q ENST00000345330 NM_012428.3 347 cTg/cAg 0 -NPY2R UCSF GRCh37 4 156135396 156135397 + frameshift_variant Frame_Shift_Del DEL TG TG - NOVEL P21_Rec Untested WXS Illumina HiSeq 26 0 ENST00000329476.3:c.308_309del p.Cys103SerfsTer90 p.C103Sfs*90 ENST00000329476 NM_000910.2 102 cTG/c 0 -NR0B1 UCSF GRCh37 X 30327138 30327138 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 26 3 39 0 ENST00000378970.4:c.343G>A p.Val115Met p.V115M ENST00000378970 NM_000475.4 115 Gtg/Atg 0 -NRBF2 UCSF GRCh37 10 64913831 64913831 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0014 P21_Rec Untested WXS Illumina HiSeq 61 16 110 0 ENST00000277746.6:c.717C>T p.Ala239= p.A239= ENST00000277746 NM_030759.3 239 gcC/gcT 0 -NSL1 UCSF GRCh37 1 212911796 212911796 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 174 30 161 0 ENST00000366977.3:c.800G>A p.Arg267Lys p.R267K ENST00000366977 NM_015471.3 267 aGa/aAa 0 -NT5C1B-RDH14 UCSF GRCh37 2 18736478 18736478 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 137 36 217 0 ENST00000381249.3:c.990G>A p.Val330= p.V330= ENST00000381249 NM_020905.3 330 gtG/gtA 0 -NT5E UCSF GRCh37 6 86195118 86195118 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 49 32 143 0 ENST00000257770.3:c.917A>G p.Asn306Ser p.N306S ENST00000257770 NM_002526.3 306 aAt/aGt 0 -NTRK3 UCSF GRCh37 15 88678426 88678426 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 163 44 235 0 ENST00000360948.2:c.1110C>T p.His370= p.H370= ENST00000360948 NM_001012338.2 370 caC/caT 0 -NTSR2 UCSF GRCh37 2 11798712 11798712 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 42 186 0 ENST00000306928.5:c.1126C>T p.Leu376= p.L376= ENST00000306928 NM_012344.3 376 Ctg/Ttg 0 -NUDT17 UCSF GRCh37 1 145586887 145586887 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 208 58 262 0 ENST00000334513.5:c.801G>A p.Met267Ile p.M267I ENST00000334513 NM_001012758.2 267 atG/atA 0 -NUDT9 UCSF GRCh37 4 88356236 88356236 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 53 56 142 0 ENST00000302174.4:c.211C>T p.Pro71Ser p.P71S ENST00000302174 NM_024047.4 71 Cca/Tca 0 -NUMA1 UCSF GRCh37 11 71734170 71734170 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 148 41 196 0 ENST00000393695.3:c.232C>T p.Pro78Ser p.P78S ENST00000393695 NM_006185.2 78 Cca/Tca 0 -NUMB UCSF GRCh37 14 73750804 73750804 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 87 27 194 0 ENST00000355058.3:c.934C>T p.Pro312Ser p.P312S ENST00000355058 312 Ccc/Tcc 0 -NUP133 UCSF GRCh37 1 229623317 229623317 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 139 30 158 0 ENST00000261396.3:c.1238C>T p.Ser413Leu p.S413L ENST00000261396 NM_018230.2 413 tCa/tTa 0 -NUP188 UCSF GRCh37 9 131741577 131741577 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 172 22 170 0 ENST00000372577.2:c.1240C>T p.Pro414Ser p.P414S ENST00000372577 NM_015354.2 414 Cct/Tct 0 -NUP188 UCSF GRCh37 9 131721310 131721310 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 72 10 81 0 ENST00000372577.2:c.482G>A p.Cys161Tyr p.C161Y ENST00000372577 NM_015354.2 161 tGt/tAt 0 -NUP214 UCSF GRCh37 9 134064441 134064441 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 137 20 136 0 ENST00000359428.5:c.3497G>A p.Gly1166Glu p.G1166E ENST00000359428 NM_005085.3 1166 gGg/gAg 0 -NUP93 UCSF GRCh37 16 56863004 56863004 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 143 45 154 0 ENST00000308159.5:c.910C>T p.Pro304Ser p.P304S ENST00000308159 NM_014669.4 304 Ccc/Tcc 0 -NWD1 UCSF GRCh37 19 16875883 16875883 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 45 27 98 0 ENST00000552788.1:c.2290G>A p.Gly764Ser p.G764S ENST00000552788 764 Ggc/Agc 0 -OBSCN UCSF GRCh37 1 228520590 228520590 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 124 37 210 0 ENST00000422127.1:c.15682G>A p.Asp5228Asn p.D5228N ENST00000422127 NM_001098623.2 5228 Gat/Aat 0 -OBSL1 UCSF GRCh37 2 220430123 220430123 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 201 55 439 0 ENST00000404537.1:c.2248T>C p.Tyr750His p.Y750H ENST00000404537 NM_015311.2 750 Tac/Cac 0 -ODZ1 UCSF GRCh37 X 123519885 123519885 + synonymous_variant Silent SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 80 46 121 0 ENST00000371130.3:c.5697G>T p.Arg1899= p.R1899= ENST00000371130 NM_014253.3 1899 cgG/cgT 0 -OLFM1 UCSF GRCh37 9 137967582 137967582 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 13 6 22 0 ENST00000252854.4:c.30C>T p.Asp10= p.D10= ENST00000252854 NM_014279.4 10 gaC/gaT 0 -OR14J1 UCSF GRCh37 6 29275388 29275388 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 255 47 181 0 ENST00000377160.2:c.922C>T p.Leu308Phe p.L308F ENST00000377160 NM_030946.1 308 Ctt/Ttt 0 -OR1G1 UCSF GRCh37 17 3030177 3030177 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 77 61 173 0 ENST00000328890.2:c.669G>A p.Ser223= p.S223= ENST00000328890 NM_003555.1 223 tcG/tcA 0 -OR2B6 UCSF GRCh37 6 27925897 27925897 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 242 28 151 0 ENST00000244623.1:c.879G>A p.Arg293= p.R293= ENST00000244623 NM_012367.1 293 agG/agA 0 -OR51I2 UCSF GRCh37 11 5474787 5474787 + synonymous_variant Silent SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 22 64 155 0 ENST00000341449.2:c.69T>C p.Ser23= p.S23= ENST00000341449 NM_001004754.2 23 tcT/tcC 0 -OR52B4 UCSF GRCh37 11 4389013 4389013 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 42 39 141 0 ENST00000408920.2:c.513C>T p.Cys171= p.C171= ENST00000408920 NM_001005161.3 171 tgC/tgT 0 -OR5AS1 UCSF GRCh37 11 55798225 55798225 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 223 57 252 0 ENST00000313555.1:c.331G>A p.Glu111Lys p.E111K ENST00000313555 NM_001001921.1 111 Gag/Aag 0 -OR5B12 UCSF GRCh37 11 58206872 58206872 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 128 25 147 1 ENST00000302572.2:c.753G>A p.Gly251= p.G251= ENST00000302572 NM_001004733.2 251 ggG/ggA 0 -OR5K3 UCSF GRCh37 3 98110426 98110426 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 60 12 43 0 ENST00000383695.1:c.917G>A p.Arg306Lys p.R306K ENST00000383695 NM_001005516.1 306 aGa/aAa 0 -OR8B4 UCSF GRCh37 11 124293998 124293998 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 51 23 133 0 ENST00000356130.3:c.770C>T p.Thr257Ile p.T257I ENST00000356130 NM_001005196.1 257 aCc/aTc 0 -OR8J1 UCSF GRCh37 11 56128341 56128341 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 168 46 183 0 ENST00000303039.3:c.619G>A p.Val207Met p.V207M ENST00000303039 NM_001005205.2 207 Gtg/Atg 0 -ORC1 UCSF GRCh37 1 52854139 52854139 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 280 33 370 0 ENST00000371566.1:c.1358C>T p.Thr453Ile p.T453I ENST00000371566 453 aCc/aTc 0 -OSGIN2 UCSF GRCh37 8 90937737 90937737 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 137 27 92 0 ENST00000297438.2:c.1495G>A p.Gly499Arg p.G499R ENST00000297438 NM_004337.2 499 Gga/Aga 0 -OTOGL UCSF GRCh37 12 80645976 80645976 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 262 35 424 0 ENST00000547103.1:c.1253C>T p.Pro418Leu p.P418L ENST00000547103 418 cCa/cTa 0 -OTOS UCSF GRCh37 2 241078726 241078726 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 129 18 185 0 ENST00000319460.1:c.131C>T p.Thr44Ile p.T44I ENST00000319460 NM_148961.3 44 aCc/aTc 0 -OVCH1 UCSF GRCh37 12 29630283 29630283 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 496 106 518 1 ENST00000318184.5:c.1237T>C p.Ser413Pro p.S413P ENST00000318184 NM_183378.2 413 Tca/Cca 0 -OXA1L UCSF GRCh37 14 23240692 23240692 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 212 62 327 0 ENST00000285848.5:c.1413G>A p.Lys471= p.K471= ENST00000285848 NM_005015.3 471 aaG/aaA 0 -P2RY12 UCSF GRCh37 3 151055634 151055634 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 138 41 159 0 ENST00000302632.3:c.1000G>A p.Gly334Ser p.G334S ENST00000302632 NM_022788.4 334 Ggt/Agt 0 -P2RY12 UCSF GRCh37 3 151056491 151056491 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 97 19 89 0 ENST00000302632.3:c.143G>A p.Arg48Lys p.R48K ENST00000302632 NM_022788.4 48 aGg/aAg 0 -PACSIN3 UCSF GRCh37 11 47204082 47204082 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 55 41 159 0 ENST00000298838.6:c.83G>A p.Arg28Gln p.R28Q ENST00000298838 NM_016223.4 28 cGg/cAg 0 -PADI1 UCSF GRCh37 1 17563920 17563920 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 80 25 128 0 ENST00000375471.4:c.1425G>A p.Glu475= p.E475= ENST00000375471 NM_013358.2 475 gaG/gaA 0 -PAH UCSF GRCh37 12 103306658 103306658 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Rec Untested WXS Illumina HiSeq 100 38 174 0 ENST00000553106.1:c.79G>C p.Asp27His p.D27H ENST00000553106 NM_000277.1 27 Gac/Cac 0 -PAPPA2 UCSF GRCh37 1 176525700 176525700 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 291 66 376 1 ENST00000367662.3:c.242C>T p.Pro81Leu p.P81L ENST00000367662 NM_020318.2 81 cCc/cTc 0 -PAPSS2 UCSF GRCh37 10 89503288 89503288 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 124 18 242 0 ENST00000361175.4:c.1366G>A p.Asp456Asn p.D456N ENST00000361175 NM_004670.3 456 Gac/Aac 0 -PC UCSF GRCh37 11 66620748 66620748 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 135 16 175 0 ENST00000393955.2:c.1475C>T p.Pro492Leu p.P492L ENST00000393955 NM_022172.2 492 cCt/cTt 0 -PCDHB13 UCSF GRCh37 5 140595033 140595033 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 149 99 537 0 ENST00000341948.4:c.1338C>T p.Asp446= p.D446= ENST00000341948 NM_018933.2 446 gaC/gaT 0 -PCDP1 UCSF GRCh37 2 120362788 120362788 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 60 13 114 0 ENST00000413369.3:c.1056G>A p.Thr352= p.T352= ENST00000413369 NM_001271049.1 352 acG/acA 0 -PCGF5 UCSF GRCh37 10 93038059 93038059 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 62 17 101 0 ENST00000336126.5:c.757A>G p.Ile253Val p.I253V ENST00000336126 NM_032373.4 253 Att/Gtt 0 -PCSK2 UCSF GRCh37 20 17208024 17208024 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 53 41 106 0 ENST00000262545.2:c.74C>A p.Ala25Asp p.A25D ENST00000262545 NM_002594.3 25 gCt/gAt 0 -PDE11A UCSF GRCh37 2 178576529 178576529 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 35 11 84 0 ENST00000286063.6:c.2121C>T p.Asp707= p.D707= ENST00000286063 NM_016953.3 707 gaC/gaT 0 -PDGFRA UCSF GRCh37 4 55131142 55131142 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 253 689 207 0 ENST00000257290.5:c.685G>A p.Glu229Lys p.E229K ENST00000257290 NM_006206.4 229 Gaa/Aaa 0 -PDGFRB UCSF GRCh37 5 149501589 149501589 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 53 16 134 0 ENST00000261799.4:c.2198C>T p.Thr733Ile p.T733I ENST00000261799 NM_002609.3 733 aCc/aTc 0 -PDPR UCSF GRCh37 16 70176162 70176162 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 247 33 310 0 ENST00000288050.4:c.1341C>T p.Pro447= p.P447= ENST00000288050 NM_017990.3 447 ccC/ccT 0 -PEAK1 UCSF GRCh37 15 77450873 77450873 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 120 33 152 0 ENST00000312493.4:c.3303C>T p.Asn1101= p.N1101= ENST00000312493 NM_024776.3 1101 aaC/aaT 0 -PENK UCSF GRCh37 8 57354046 57354046 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 175 67 228 0 ENST00000314922.3:c.589C>T p.Pro197Ser p.P197S ENST00000314922 NM_006211.3 197 Ccc/Tcc 0 -PER3 UCSF GRCh37 1 7886742 7886742 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 59 25 99 0 ENST00000361923.2:c.2136G>A p.Arg712= p.R712= ENST00000361923 NM_016831.1 712 agG/agA 0 -PEX5 UCSF GRCh37 12 7360673 7360673 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 98 19 110 0 ENST00000420616.2:c.1178G>A p.Arg393Gln p.R393Q ENST00000420616 NM_001131025.1 393 cGg/cAg 0 -PFAS UCSF GRCh37 17 8168739 8168739 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 142 44 224 0 ENST00000314666.6:c.2414C>T p.Ser805Phe p.S805F ENST00000314666 NM_012393.2 805 tCc/tTc 0 -PFAS UCSF GRCh37 17 8172160 8172160 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 55 18 90 0 ENST00000314666.6:c.3692G>A p.Ser1231Asn p.S1231N ENST00000314666 NM_012393.2 1231 aGt/aAt 0 -PFKFB2 UCSF GRCh37 1 207240875 207240875 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 122 41 177 0 ENST00000367080.3:c.664G>A p.Gly222Ser p.G222S ENST00000367080 NM_006212.2 222 Ggc/Agc 0 -PFKFB4 UCSF GRCh37 3 48576744 48576744 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 36 11 65 0 ENST00000232375.3:c.454-1G>A p.X152_splice ENST00000232375 NM_004567.2 0 -PGP UCSF GRCh37 16 2263816 2263816 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 179 41 243 0 ENST00000333503.7:c.879G>A p.Gln293= p.Q293= ENST00000333503 NM_001042371.2 293 caG/caA 0 -PHF21A UCSF GRCh37 11 45955610 45955610 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 42 5 79 0 ENST00000418153.2:c.1952C>T p.Pro651Leu p.P651L ENST00000418153 651 cCc/cTc 0 -PHF21B UCSF GRCh37 22 45281750 45281750 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 147 48 205 0 ENST00000313237.5:c.1266C>T p.His422= p.H422= ENST00000313237 NM_138415.4 422 caC/caT 0 -PHLDB1 UCSF GRCh37 11 118495696 118495696 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 48 34 168 0 ENST00000361417.2:c.402C>T p.His134= p.H134= ENST00000361417 NM_015157.3 134 caC/caT 0 -PIGT UCSF GRCh37 20 44052855 44052855 + splice_acceptor_variant Splice_Site SNP G G A snp132_rs112243674 P21_Rec Untested WXS Illumina HiSeq 79 24 140 0 ENST00000279036.6:c.1235-1G>A p.X412_splice ENST00000279036 NM_015937.5 0 -PIKFYVE UCSF GRCh37 2 209198074 209198074 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 95 11 142 0 ENST00000264380.4:c.3999G>A p.Trp1333Ter p.W1333* ENST00000264380 NM_015040.3 1333 tgG/tgA 0 -PIWIL2 UCSF GRCh37 8 22171841 22171841 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 34 10 43 0 ENST00000356766.6:c.1990G>A p.Gly664Arg p.G664R ENST00000356766 NM_018068.3 664 Ggg/Agg 0 -PKD1 UCSF GRCh37 16 2153526 2153526 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 248 75 463 0 ENST00000262304.4:c.8532C>T p.Val2844= p.V2844= ENST00000262304 NM_001009944.2 2844 gtC/gtT 0 -PKHD1L1 UCSF GRCh37 8 110498908 110498908 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 551 75 508 0 ENST00000378402.5:c.9738G>A p.Glu3246= p.E3246= ENST00000378402 NM_177531.4 3246 gaG/gaA 0 -PKLR UCSF GRCh37 1 155269984 155269984 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 62 18 79 0 ENST00000342741.4:c.188C>T p.Ala63Val p.A63V ENST00000342741 NM_000298.5 63 gCt/gTt 0 -PKN2 UCSF GRCh37 1 89294219 89294219 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 77 16 75 0 ENST00000370521.3:c.2475C>T p.Ala825= p.A825= ENST00000370521 NM_006256.2 825 gcC/gcT 0 -PLEKHG2 UCSF GRCh37 19 39904836 39904836 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 17 6 30 0 ENST00000425673.1:c.109+1G>A p.X37_splice ENST00000425673 0 -PLEKHG3 UCSF GRCh37 14 65194574 65194574 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 24 10 51 0 ENST00000394691.1:c.225C>T p.Leu75= p.L75= ENST00000394691 75 ctC/ctT 0 -PLEKHM1 UCSF GRCh37 17 43552712 43552712 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 154 40 268 0 ENST00000430334.3:c.677C>T p.Ser226Phe p.S226F ENST00000430334 NM_014798.2 226 tCt/tTt 0 -PLOD1 UCSF GRCh37 1 12032969 12032969 + missense_variant Missense_Mutation SNP A A T NOVEL P21_Rec Untested WXS Illumina HiSeq 119 25 184 0 ENST00000196061.4:c.1943A>T p.Asp648Val p.D648V ENST00000196061 NM_000302.3 648 gAt/gTt 0 -PLSCR3 UCSF GRCh37 17 7296919 7296919 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 159 40 202 0 ENST00000535512.1:c.243+1G>A p.X81_splice ENST00000535512 0 -PLXNA1 UCSF GRCh37 3 126741603 126741603 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 170 39 301 2 ENST00000393409.2:c.4304C>T p.Ser1435Leu p.S1435L ENST00000393409 NM_032242.3 1435 tCg/tTg 0 -PML UCSF GRCh37 15 74290735 74290735 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 20 118 0 ENST00000268058.3:c.520G>A p.Val174Met p.V174M ENST00000268058 NM_033238.2 174 Gtg/Atg 0 -POLI UCSF GRCh37 18 51800296 51800296 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 115 47 174 0 ENST00000579534.1:c.242G>A p.Gly81Glu p.G81E ENST00000579534 NM_007195.2 81 gGg/gAg 0 -POLK UCSF GRCh37 5 74892598 74892598 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 78 19 74 0 ENST00000241436.4:c.2080G>A p.Glu694Lys p.E694K ENST00000241436 NM_016218.2 694 Gaa/Aaa 0 -POLN UCSF GRCh37 4 2082740 2082740 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 139 31 191 0 ENST00000382865.1:c.2332C>T p.Leu778= p.L778= ENST00000382865 NM_181808.2 778 Ctg/Ttg 0 -PON2 UCSF GRCh37 7 95039262 95039262 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 157 46 277 0 ENST00000222572.3:c.646G>A p.Ala216Thr p.A216T ENST00000222572 216 Gca/Aca 0 -POSTN UCSF GRCh37 13 38161957 38161957 + splice_donor_variant Splice_Site SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 40 33 96 0 ENST00000379747.4:c.606+2T>C p.X202_splice ENST00000379747 NM_006475.2 0 -PPFIA4 UCSF GRCh37 1 203022984 203022984 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 21 8 30 0 ENST00000447715.2:c.1693G>A p.Val565Ile p.V565I ENST00000447715 565 Gtc/Atc 0 -PPFIBP1 UCSF GRCh37 12 27841986 27841986 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 216 95 245 0 ENST00000318304.8:c.2553G>T p.Gln851His p.Q851H ENST00000318304 NM_177444.2 851 caG/caT 0 -PPIB UCSF GRCh37 15 64448950 64448950 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 268 96 434 0 ENST00000300026.3:c.502G>A p.Val168Met p.V168M ENST00000300026 NM_000942.4 168 Gtg/Atg 0 -PPM1B UCSF GRCh37 2 44445214 44445214 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 54 22 73 0 ENST00000282412.4:c.1073G>A p.Gly358Asp p.G358D ENST00000282412 NM_002706.4 358 gGc/gAc 0 -PPP1R13L UCSF GRCh37 19 45889151 45889151 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 33 6 37 0 ENST00000360957.5:c.2012C>T p.Ala671Val p.A671V ENST00000360957 NM_006663.3 671 gCc/gTc 0 -PPP2R1A UCSF GRCh37 19 52715981 52715981 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 131 47 184 0 ENST00000322088.6:c.546G>A p.Arg182= p.R182= ENST00000322088 NM_014225.5 182 cgG/cgA 0 -PPP2R2C UCSF GRCh37 4 6325083 6325083 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 93 23 152 0 ENST00000382599.4:c.1290C>T p.Ala430= p.A430= ENST00000382599 430 gcC/gcT 0 -PPWD1 UCSF GRCh37 5 64867978 64867978 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 142 39 162 0 ENST00000261308.5:c.834G>A p.Lys278= p.K278= ENST00000261308 NM_001278927.1 278 aaG/aaA 0 -PRG2 UCSF GRCh37 11 57156716 57156716 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 127 26 189 0 ENST00000311862.5:c.133G>A p.Glu45Lys p.E45K ENST00000311862 NM_002728.4 45 Gag/Aag 0 -PRKCB UCSF GRCh37 16 24135240 24135240 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 174 58 357 0 ENST00000321728.7:c.1003G>A p.Asp335Asn p.D335N ENST00000321728 NM_212535.2 335 Gac/Aac 0 -PRKD1 UCSF GRCh37 14 30194858 30194858 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 90 40 177 0 ENST00000331968.5:c.287G>A p.Gly96Glu p.G96E ENST00000331968 NM_002742.2 96 gGa/gAa 0 -PRKDC UCSF GRCh37 8 48792051 48792051 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 93 14 93 0 ENST00000314191.2:c.5232+1G>A p.X1744_splice ENST00000314191 NM_006904.6 0 -PRKDC UCSF GRCh37 8 48842573 48842573 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 122 32 131 0 ENST00000314191.2:c.1893-1G>A p.X631_splice ENST00000314191 NM_006904.6 0 -PRODH UCSF GRCh37 22 18910629 18910629 + missense_variant,splice_region_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 131 41 201 0 ENST00000357068.6:c.731T>C p.Leu244Pro p.L244P ENST00000357068 NM_016335.4 244 cTg/cCg 0 -PRPF40B UCSF GRCh37 12 50027730 50027730 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 50 18 115 0 ENST00000380281.1:c.601C>T p.Pro201Ser p.P201S ENST00000380281 201 Ccc/Tcc 0 -PRPF40B UCSF GRCh37 12 50035712 50035712 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 76 22 109 0 ENST00000380281.1:c.1723G>A p.Val575Met p.V575M ENST00000380281 575 Gtg/Atg 0 -PRR12 UCSF GRCh37 19 50098109 50098109 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 15 5 20 0 ENST00000418929.2:c.517C>T p.Pro173Ser p.P173S ENST00000418929 NM_020719.1 173 Ccc/Tcc 0 -PRRC2C UCSF GRCh37 1 171510733 171510733 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.0061,snp132_rs74122867 P21_Rec Untested WXS Illumina HiSeq 192 45 241 0 ENST00000338920.4:c.4122G>A p.Gln1374= p.Q1374= ENST00000338920 NM_015172.3 1374 caG/caA 0 -PRSS3 UCSF GRCh37 9 33797843 33797843 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 418 92 659 0 ENST00000361005.5:c.388C>T p.Leu130= p.L130= ENST00000361005 NM_007343.3 130 Ctg/Ttg 0 -PSAPL1 UCSF GRCh37 4 7435437 7435437 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 148 47 233 0 ENST00000319098.4:c.1170G>A p.Glu390= p.E390= ENST00000319098 NM_001085382.1 390 gaG/gaA 0 -PSD3 UCSF GRCh37 8 18725432 18725432 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 231 62 310 0 ENST00000440756.2:c.1386G>A p.Glu462= p.E462= ENST00000440756 462 gaG/gaA 0 -PSMB1 UCSF GRCh37 6 170844403 170844403 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 63 33 213 0 ENST00000262193.6:c.631G>A p.Ala211Thr p.A211T ENST00000262193 NM_002793.3 211 Gct/Act 0 -PTCH1 UCSF GRCh37 9 98209333 98209333 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 109 27 174 0 ENST00000331920.6:c.4205C>T p.Pro1402Leu p.P1402L ENST00000331920 NM_000264.3 1402 cCt/cTt 0 -PTCHD2 UCSF GRCh37 1 11561820 11561820 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 25 14 53 0 ENST00000294484.6:c.771C>T p.Asp257= p.D257= ENST00000294484 NM_020780.1 257 gaC/gaT 0 -PTPLAD2 UCSF GRCh37 9 21026605 21026605 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 95 37 200 0 ENST00000495827.2:c.260G>A p.Arg87Lys p.R87K ENST00000495827 NM_001010915.3 87 aGg/aAg 0 -PTPRN2 UCSF GRCh37 7 157926724 157926724 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 80 24 166 0 ENST00000389418.4:c.1201G>A p.Gly401Ser p.G401S ENST00000389418 NM_002847.3 401 Ggc/Agc 0 -PUM2 UCSF GRCh37 2 20478577 20478577 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 114 57 218 0 ENST00000338086.5:c.1724G>A p.Gly575Asp p.G575D ENST00000338086 NM_015317.1 575 gGc/gAc 0 -PXDN UCSF GRCh37 2 1677534 1677534 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 302 93 630 0 ENST00000252804.4:c.899G>A p.Gly300Glu p.G300E ENST00000252804 NM_012293.1 300 gGg/gAg 0 -QSOX2 UCSF GRCh37 9 139108532 139108532 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 70 21 102 0 ENST00000358701.5:c.1123G>A p.Glu375Lys p.E375K ENST00000358701 NM_181701.3 375 Gag/Aag 0 -R3HCC1 UCSF GRCh37 8 23147752 23147752 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 18 5 16 0 ENST00000411463.1:c.742C>T p.Leu248= p.L248= ENST00000411463 248 Ctg/Ttg 0 -RAB3GAP2 UCSF GRCh37 1 220364547 220364547 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 99 36 159 0 ENST00000358951.2:c.1350C>T p.Ser450= p.S450= ENST00000358951 NM_012414.3 450 tcC/tcT 0 -RABGAP1L UCSF GRCh37 1 174957826 174957826 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 78 19 82 0 ENST00000325589.5:c.775G>A p.Gly259Ser p.G259S ENST00000325589 259 Ggt/Agt 0 -RAD17 UCSF GRCh37 5 68692336 68692336 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 51 14 61 0 ENST00000380774.3:c.1568C>T p.Pro523Leu p.P523L ENST00000380774 NM_133339.2 523 cCc/cTc 0 -RAD21 UCSF GRCh37 8 117866648 117866648 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 309 38 266 0 ENST00000297338.2:c.997G>A p.Asp333Asn p.D333N ENST00000297338 NM_006265.2 333 Gat/Aat 0 -RAD51 UCSF GRCh37 15 40991018 40991018 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 98 32 155 0 ENST00000267868.3:c.62G>A p.Gly21Asp p.G21D ENST00000267868 NM_002875.4 21 gGc/gAc 0 -RAD54L2 UCSF GRCh37 3 51672310 51672310 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 136 50 150 0 ENST00000409535.2:c.1833C>T p.Pro611= p.P611= ENST00000409535 NM_015106.2 611 ccC/ccT 0 -RALGAPB UCSF GRCh37 20 37137727 37137727 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 176 50 246 0 ENST00000262879.6:c.748C>T p.Arg250Cys p.R250C ENST00000262879 250 Cgc/Tgc 0 -RALGDS UCSF GRCh37 9 135974021 135974021 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 110 13 127 0 ENST00000372050.3:c.2698C>T p.Pro900Ser p.P900S ENST00000372050 NM_006266.3 900 Cct/Tct 0 -RANBP3 UCSF GRCh37 19 5923259 5923259 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 98 15 139 0 ENST00000340578.6:c.1155G>A p.Leu385= p.L385= ENST00000340578 NM_007322.2 385 ttG/ttA 0 -RAP1GAP2 UCSF GRCh37 17 2908700 2908700 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 247 158 544 0 ENST00000254695.8:c.1238G>T p.Gly413Val p.G413V ENST00000254695 NM_015085.4 413 gGt/gTt 0 -RAPGEF5 UCSF GRCh37 7 22349610 22349610 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 144 64 270 0 ENST00000344041.6:c.30G>A p.Leu10= p.L10= ENST00000344041 NM_012294.3 10 ctG/ctA 0 -RASGRF1 UCSF GRCh37 15 79382719 79382719 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 246 61 324 0 ENST00000419573.3:c.122C>T p.Thr41Ile p.T41I ENST00000419573 NM_002891.4 41 aCc/aTc 0 -RASGRF1 UCSF GRCh37 15 79298560 79298560 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 151 37 240 0 ENST00000419573.3:c.2082C>T p.Ile694= p.I694= ENST00000419573 NM_002891.4 694 atC/atT 0 -RBAK UCSF GRCh37 7 5104026 5104026 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 132 56 231 0 ENST00000353796.3:c.939G>A p.Glu313= p.E313= ENST00000353796 NM_001204456.1 313 gaG/gaA 0 -RBM12 UCSF GRCh37 20 34241916 34241916 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 160 37 160 0 ENST00000359646.1:c.1329C>T p.Asn443= p.N443= ENST00000359646 443 aaC/aaT 0 -RBM15 UCSF GRCh37 1 110884780 110884780 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 145 55 201 0 ENST00000369784.3:c.2753G>A p.Gly918Glu p.G918E ENST00000369784 NM_022768.4 918 gGg/gAg 0 -RBM17 UCSF GRCh37 10 6151953 6151953 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 214 33 172 0 ENST00000379888.4:c.567C>T p.Pro189= p.P189= ENST00000379888 NM_032905.4 189 ccC/ccT 0 -RBM26 UCSF GRCh37 13 79928639 79928639 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 67 8 123 0 ENST00000438737.2:c.1921G>A p.Gly641Ser p.G641S ENST00000438737 NM_001286631.1 641 Ggt/Agt 0 -RBMS3 UCSF GRCh37 3 29476270 29476270 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 137 37 182 1 ENST00000383767.2:c.112C>A p.Pro38Thr p.P38T ENST00000383767 38 Ccc/Acc 0 -RC3H2 UCSF GRCh37 9 125659702 125659702 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 96 25 133 0 ENST00000357244.2:c.87C>T p.Ile29= p.I29= ENST00000357244 NM_001100588.1 29 atC/atT 0 -RCSD1 UCSF GRCh37 1 167666688 167666688 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 19 4 31 0 ENST00000367854.3:c.827C>T p.Pro276Leu p.P276L ENST00000367854 NM_052862.3 276 cCg/cTg 0 -REV1 UCSF GRCh37 2 100024589 100024589 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 148 18 174 0 ENST00000258428.3:c.2350G>A p.Val784Ile p.V784I ENST00000258428 NM_001037872.1 784 Gta/Ata 0 -REV3L UCSF GRCh37 6 111695087 111695087 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 107 80 244 0 ENST00000358835.3:c.4471G>A p.Val1491Ile p.V1491I ENST00000358835 1491 Gta/Ata 0 -RG9MTD3 UCSF GRCh37 9 37770683 37770683 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 56 17 91 0 ENST00000297994.3:c.667G>A p.Asp223Asn p.D223N ENST00000297994 NM_144964.2 223 Gat/Aat 0 -RGS12 UCSF GRCh37 4 3318901 3318901 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 177 45 247 1 ENST00000336727.3:c.1004C>T p.Thr335Ile p.T335I ENST00000336727 NM_002926.3 335 aCt/aTt 0 -RGS14 UCSF GRCh37 5 176795777 176795777 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 15 59 136 0 ENST00000408923.3:c.909C>T p.Tyr303= p.Y303= ENST00000408923 NM_006480.4 303 taC/taT 0 -RHAG UCSF GRCh37 6 49604443 49604443 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0042,snp132_rs114042395 P21_Rec Untested WXS Illumina HiSeq 368 52 259 0 ENST00000371175.4:c.83C>T p.Thr28Met p.T28M ENST00000371175 NM_000324.2 28 aCg/aTg 0 -RHBDF2 UCSF GRCh37 17 74470598 74470598 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 67 27 113 0 ENST00000313080.4:c.1408G>A p.Gly470Arg p.G470R ENST00000313080 NM_024599.5 470 Ggg/Agg 0 -RHOB UCSF GRCh37 2 20647261 20647261 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 34 15 84 0 ENST00000272233.4:c.35G>A p.Gly12Asp p.G12D ENST00000272233 NM_004040.2 12 gGc/gAc 0 -RHOT2 UCSF GRCh37 16 722944 722944 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 98 36 153 0 ENST00000315082.4:c.1544G>A p.Gly515Glu p.G515E ENST00000315082 NM_138769.2 515 gGg/gAg 0 -RIMS1 UCSF GRCh37 6 73110251 73110251 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 119 35 332 0 ENST00000521978.1:c.4914G>A p.Val1638= p.V1638= ENST00000521978 NM_014989.5 1638 gtG/gtA 0 -RIN2 UCSF GRCh37 20 19956118 19956118 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 141 32 259 0 ENST00000255006.6:c.1596G>A p.Arg532= p.R532= ENST00000255006 NM_018993.3 532 agG/agA 0 -RNF19B UCSF GRCh37 1 33407982 33407982 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 88 37 132 0 ENST00000373456.7:c.1484C>T p.Thr495Ile p.T495I ENST00000373456 NM_153341.2 495 aCt/aTt 0 -RNF20 UCSF GRCh37 9 104303258 104303258 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 76 31 134 0 ENST00000389120.3:c.628+1G>A p.X210_splice ENST00000389120 NM_019592.6 0 -RNF212 UCSF GRCh37 4 1087248 1087248 + intron_variant Intron SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 53 7 66 0 ENST00000433731.2:c.247-2622G>A *83* ENST00000433731 0 -RNF26 UCSF GRCh37 11 119206973 119206973 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 91 12 172 0 ENST00000311413.4:c.1141G>A p.Val381Ile p.V381I ENST00000311413 NM_032015.4 381 Gtc/Atc 0 -RNF43 UCSF GRCh37 17 56434896 56434896 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 118 40 186 1 ENST00000407977.2:c.2241G>A p.Trp747Ter p.W747* ENST00000407977 747 tgG/tgA 0 -RNGTT UCSF GRCh37 6 89673110 89673110 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 21 9 59 0 ENST00000369485.4:c.19C>T p.Pro7Ser p.P7S ENST00000369485 NM_003800.3 7 Ccg/Tcg 0 -RNMTL1 UCSF GRCh37 17 686449 686449 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 149 26 173 0 ENST00000304478.4:c.441C>T p.Ser147= p.S147= ENST00000304478 NM_018146.2 147 agC/agT 0 -ROBO2 UCSF GRCh37 3 77638066 77638066 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 114 82 181 0 ENST00000461745.1:c.2665G>A p.Gly889Arg p.G889R ENST00000461745 NM_002942.4 889 Gga/Aga 0 -ROR2 UCSF GRCh37 9 94487067 94487067 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 109 24 171 0 ENST00000375708.3:c.1709C>T p.Pro570Leu p.P570L ENST00000375708 NM_004560.3 570 cCg/cTg 0 -RPP25 UCSF GRCh37 15 75248436 75248436 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 23 9 23 0 ENST00000322177.5:c.489G>A p.Pro163= p.P163= ENST00000322177 NM_017793.2 163 ccG/ccA 0 -RREB1 UCSF GRCh37 6 7248786 7248786 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 121 20 148 0 ENST00000349384.6:c.4649C>T p.Thr1550Ile p.T1550I ENST00000349384 NM_001003698.3 1550 aCc/aTc 0 -RRM2 UCSF GRCh37 2 10263567 10263567 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 45 18 98 0 ENST00000304567.5:c.228C>T p.Asn76= p.N76= ENST00000304567 NM_001034.3 76 aaC/aaT 0 -RRP1B UCSF GRCh37 21 45103245 45103245 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 98 13 94 0 ENST00000340648.4:c.882C>T p.Pro294= p.P294= ENST00000340648 NM_015056.2 294 ccC/ccT 0 -RRP36 UCSF GRCh37 6 42996950 42996950 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 515 61 297 0 ENST00000244496.5:c.764C>T p.Pro255Leu p.P255L ENST00000244496 NM_033112.2 255 cCt/cTt 0 -RTN4RL2 UCSF GRCh37 11 57235467 57235467 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 112 39 182 0 ENST00000335099.3:c.417C>T p.Tyr139= p.Y139= ENST00000335099 NM_178570.2 139 taC/taT 0 -RUNDC1 UCSF GRCh37 17 41143444 41143444 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 132 34 218 0 ENST00000361677.1:c.1553C>T p.Thr518Ile p.T518I ENST00000361677 NM_173079.2 518 aCa/aTa 0 -RYR3 UCSF GRCh37 15 34049710 34049710 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 53 11 85 0 ENST00000389232.4:c.8618G>A p.Ser2873Asn p.S2873N ENST00000389232 NM_001036.3 2873 aGt/aAt 0 -SAFB2 UCSF GRCh37 19 5594077 5594077 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 11 4 25 0 ENST00000252542.4:c.2032G>A p.Glu678Lys p.E678K ENST00000252542 NM_014649.2 678 Gag/Aag 0 -SAMD8 UCSF GRCh37 10 76936330 76936330 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 110 33 194 0 ENST00000542569.1:c.1128G>A p.Arg376= p.R376= ENST00000542569 NM_144660.2 376 agG/agA 0 -SAP130 UCSF GRCh37 2 128750879 128750879 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 185 51 280 0 ENST00000259235.3:c.1437G>A p.Pro479= p.P479= ENST00000259235 NM_024545.3 479 ccG/ccA 0 -SARS UCSF GRCh37 1 109777933 109777933 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 160 55 234 0 ENST00000234677.2:c.849G>A p.Glu283= p.E283= ENST00000234677 NM_006513.3 283 gaG/gaA 0 -SART1 UCSF GRCh37 11 65746346 65746346 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 146 26 187 0 ENST00000312397.5:c.2345C>T p.Pro782Leu p.P782L ENST00000312397 NM_005146.4 782 cCc/cTc 0 -SART1 UCSF GRCh37 11 65743865 65743865 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 22 8 35 0 ENST00000312397.5:c.1573-1G>A p.X525_splice ENST00000312397 NM_005146.4 0 -SBNO1 UCSF GRCh37 12 123798194 123798194 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 32 18 45 0 ENST00000420886.2:c.3193C>T p.Pro1065Ser p.P1065S ENST00000420886 NM_001167856.1 1065 Cca/Tca 0 -SCAF11 UCSF GRCh37 12 46357889 46357889 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 23 7 30 0 ENST00000369367.3:c.61+1G>A p.X21_splice ENST00000369367 NM_004719.2 0 -SCAF4 UCSF GRCh37 21 33058004 33058004 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 33 53 62 0 ENST00000286835.7:c.2086C>T p.Gln696Ter p.Q696* ENST00000286835 NM_020706.2 696 Cag/Tag 0 -SCAF8 UCSF GRCh37 6 155145444 155145444 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 79 45 221 0 ENST00000367178.3:c.2003C>T p.Pro668Leu p.P668L ENST00000367178 NM_014892.3 668 cCt/cTt 0 -SCARA3 UCSF GRCh37 8 27516386 27516386 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 64 9 95 0 ENST00000301904.3:c.699G>T p.Trp233Cys p.W233C ENST00000301904 NM_016240.2 233 tgG/tgT 0 -SCN11A UCSF GRCh37 3 38924723 38924723 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 77 13 136 0 ENST00000302328.3:c.3219+1G>A p.X1073_splice ENST00000302328 NM_014139.2 0 -SCN3B UCSF GRCh37 11 123513277 123513277 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 87 13 190 0 ENST00000299333.3:c.322C>T p.Leu108Phe p.L108F ENST00000299333 NM_001040151.1 108 Ctc/Ttc 0 -SCNM1 UCSF GRCh37 1 151139625 151139625 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 251 58 314 0 ENST00000368905.4:c.240G>A p.Gln80= p.Q80= ENST00000368905 NM_024041.3 80 caG/caA 0 -SCPEP1 UCSF GRCh37 17 55078335 55078335 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 187 58 266 0 ENST00000262288.3:c.1114C>T p.Leu372Phe p.L372F ENST00000262288 NM_021626.2 372 Ctc/Ttc 0 -SCUBE2 UCSF GRCh37 11 9052337 9052337 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 99 41 270 0 ENST00000520467.1:c.2138G>A p.Gly713Glu p.G713E ENST00000520467 NM_020974.2 713 gGa/gAa 0 -SCYL2 UCSF GRCh37 12 100723044 100723044 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 69 12 77 0 ENST00000360820.2:c.1708G>A p.Val570Met p.V570M ENST00000360820 NM_017988.4 570 Gtg/Atg 0 -SCYL3 UCSF GRCh37 1 169847817 169847817 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 151 39 203 0 ENST00000367770.1:c.309G>A p.Gly103= p.G103= ENST00000367770 103 ggG/ggA 0 -SEMA6A UCSF GRCh37 5 115808768 115808768 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 199 54 225 0 ENST00000343348.6:c.1729+1G>A p.X577_splice ENST00000343348 NM_020796.3 0 -SEMA6A UCSF GRCh37 5 115814408 115814408 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 217 66 292 0 ENST00000343348.6:c.1257C>T p.Arg419= p.R419= ENST00000343348 NM_020796.3 419 cgC/cgT 0 -SERTAD1 UCSF GRCh37 19 40929159 40929159 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 18 3 27 0 ENST00000357949.4:c.295G>A p.Val99Met p.V99M ENST00000357949 NM_013376.3 99 Gtg/Atg 0 -SETD5 UCSF GRCh37 3 9512549 9512549 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 299 61 247 0 ENST00000402198.1:c.3131C>T p.Pro1044Leu p.P1044L ENST00000402198 NM_001080517.1 1044 cCt/cTt 0 -SETD5 UCSF GRCh37 3 9485095 9485095 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 92 14 90 0 ENST00000402198.1:c.1181G>A p.Ser394Asn p.S394N ENST00000402198 NM_001080517.1 394 aGt/aAt 0 -SETD6 UCSF GRCh37 16 58550503 58550503 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 68 22 102 0 ENST00000219315.4:c.598C>T p.Pro200Ser p.P200S ENST00000219315 200 Ccc/Tcc 0 -SF3B3 UCSF GRCh37 16 70601401 70601401 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 106 21 123 1 ENST00000302516.5:c.2914C>T p.Leu972= p.L972= ENST00000302516 NM_012426.4 972 Ctg/Ttg 0 -SFXN2 UCSF GRCh37 10 104491966 104491966 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 62 29 152 0 ENST00000369893.5:c.712C>T p.Pro238Ser p.P238S ENST00000369893 NM_178858.4 238 Cct/Tct 0 -SGOL1 UCSF GRCh37 3 20216193 20216193 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 87 23 112 0 ENST00000263753.4:c.830C>T p.Ser277Phe p.S277F ENST00000263753 NM_001012410.3 277 tCt/tTt 0 -SGSM3 UCSF GRCh37 22 40803205 40803205 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 93 22 126 0 ENST00000248929.9:c.1241G>A p.Gly414Glu p.G414E ENST00000248929 NM_015705.4 414 gGg/gAg 0 -SHANK2 UCSF GRCh37 11 70332736 70332736 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 25 122 0 ENST00000423696.2:c.2525C>T p.Ser842Phe p.S842F ENST00000423696 842 tCc/tTc 0 -SHBG UCSF GRCh37 17 7534144 7534144 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 79 9 121 0 ENST00000380450.4:c.350C>T p.Thr117Met p.T117M ENST00000380450 NM_001040.3 117 aCg/aTg 0 -SHMT2 UCSF GRCh37 12 57627415 57627415 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 77 33 166 0 ENST00000328923.3:c.1093C>T p.Leu365= p.L365= ENST00000328923 NM_005412.5 365 Ctg/Ttg 0 -SI UCSF GRCh37 3 164777734 164777734 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 257 77 302 0 ENST00000264382.3:c.1102G>A p.Val368Met p.V368M ENST00000264382 NM_001041.3 368 Gtg/Atg 0 -SIAH3 UCSF GRCh37 13 46358136 46358136 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 23 18 114 0 ENST00000400405.2:c.192C>T p.His64= p.H64= ENST00000400405 NM_198849.2 64 caC/caT 0 -SIDT1 UCSF GRCh37 3 113331041 113331041 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 85 27 99 0 ENST00000264852.4:c.1966G>A p.Asp656Asn p.D656N ENST00000264852 NM_017699.2 656 Gat/Aat 0 -SLC10A2 UCSF GRCh37 13 103698539 103698539 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 48 6 108 0 ENST00000245312.3:c.991G>A p.Glu331Lys p.E331K ENST00000245312 NM_000452.2 331 Gag/Aag 0 -SLC10A4 UCSF GRCh37 4 48490831 48490831 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 79 20 88 0 ENST00000273861.4:c.1189G>A p.Asp397Asn p.D397N ENST00000273861 NM_152679.3 397 Gat/Aat 0 -SLC12A1 UCSF GRCh37 15 48539196 48539196 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0029 P21_Rec Untested WXS Illumina HiSeq 310 199 501 0 ENST00000380993.3:c.1543G>A p.Ala515Thr p.A515T ENST00000380993 NM_000338.2 515 Gca/Aca 0 -SLC12A6 UCSF GRCh37 15 34533453 34533453 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 35 10 40 0 ENST00000354181.3:c.2248C>A p.Pro750Thr p.P750T ENST00000354181 750 Cca/Aca 0 -SLC17A2 UCSF GRCh37 6 25917232 25917232 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 189 36 141 0 ENST00000265425.3:c.733G>A p.Glu245Lys p.E245K ENST00000265425 245 Gaa/Aaa 0 -SLC24A5 UCSF GRCh37 15 48428997 48428997 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 136 37 146 0 ENST00000341459.3:c.708C>T p.Ala236= p.A236= ENST00000341459 NM_205850.2 236 gcC/gcT 0 -SLC25A14 UCSF GRCh37 X 129506898 129506898 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 126 100 210 0 ENST00000218197.5:c.952G>A p.Glu318Lys p.E318K ENST00000218197 NM_022810.1 318 Gag/Aag 0 -SLC25A25 UCSF GRCh37 9 130869597 130869597 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 147 33 211 0 ENST00000373064.5:c.1284G>A p.Arg428= p.R428= ENST00000373064 NM_052901.4 428 cgG/cgA 0 -SLC26A8 UCSF GRCh37 6 35927270 35927270 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 269 54 195 0 ENST00000355574.2:c.1830C>T p.Phe610= p.F610= ENST00000355574 NM_001193476.1 610 ttC/ttT 0 -SLC27A3 UCSF GRCh37 1 153750305 153750305 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 106 23 175 0 ENST00000368661.3:c.1246G>A p.Val416Met p.V416M ENST00000368661 NM_024330.1 416 Gtg/Atg 0 -SLC28A1 UCSF GRCh37 15 85438637 85438637 + intron_variant Intron SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 62 28 86 0 ENST00000286749.3:c.461+283C>T *154* ENST00000286749 NM_001287762.1 0 -SLC29A4 UCSF GRCh37 7 5340179 5340179 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 162 61 343 0 ENST00000297195.4:c.1336C>T p.Pro446Ser p.P446S ENST00000297195 NM_001040661.1 446 Ccc/Tcc 0 -SLC30A1 UCSF GRCh37 1 211749269 211749269 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 178 48 241 1 ENST00000367001.4:c.985C>T p.Leu329Phe p.L329F ENST00000367001 NM_021194.2 329 Ctt/Ttt 0 -SLC30A6 UCSF GRCh37 2 32445766 32445766 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 68 42 167 0 ENST00000282587.5:c.1370G>A p.Gly457Glu p.G457E ENST00000282587 NM_017964.3 457 gGa/gAa 0 -SLC35G1 UCSF GRCh37 10 95661083 95661083 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 92 18 144 0 ENST00000427197.1:c.934G>A p.Gly312Arg p.G312R ENST00000427197 NM_001134658.1 312 Ggg/Agg 0 -SLC41A2 UCSF GRCh37 12 105199074 105199074 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 259 30 390 1 ENST00000258538.3:c.1578C>T p.His526= p.H526= ENST00000258538 NM_032148.3 526 caC/caT 0 -SLC4A4 UCSF GRCh37 4 72222843 72222843 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 81 54 244 0 ENST00000264485.5:c.669C>T p.Ser223= p.S223= ENST00000264485 NM_001098484.2 223 tcC/tcT 0 -SLC5A6 UCSF GRCh37 2 27423865 27423865 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 62 13 112 0 ENST00000310574.3:c.1764+1G>A p.X588_splice ENST00000310574 NM_021095.2 0 -SLC6A11 UCSF GRCh37 3 10970906 10970906 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 261 43 322 0 ENST00000254488.2:c.1252C>T p.Leu418= p.L418= ENST00000254488 NM_014229.1 418 Ctg/Ttg 0 -SLC6A17 UCSF GRCh37 1 110741056 110741056 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 93 34 134 0 ENST00000331565.4:c.2174C>T p.Ser725Leu p.S725L ENST00000331565 NM_001010898.2 725 tCg/tTg 0 -SLC7A5 UCSF GRCh37 16 87874719 87874719 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 28 154 0 ENST00000261622.4:c.707C>T p.Thr236Ile p.T236I ENST00000261622 NM_003486.5 236 aCc/aTc 0 -SLC9A1 UCSF GRCh37 1 27426843 27426843 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 26 137 0 ENST00000263980.3:c.2403C>T p.His801= p.H801= ENST00000263980 NM_003047.4 801 caC/caT 0 -SLCO1B1 UCSF GRCh37 12 21350030 21350030 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 376 57 275 1 ENST00000256958.2:c.878C>T p.Ser293Leu p.S293L ENST00000256958 NM_006446.4 293 tCa/tTa 0 -SLCO1B7 UCSF GRCh37 12 21201727 21201727 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 178 26 108 0 ENST00000421593.2:c.1076G>T p.Gly359Val p.G359V ENST00000421593 NM_001009562.4 359 gGa/gTa 0 -SLITRK2 UCSF GRCh37 X 144905522 144905522 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 66 42 138 0 ENST00000370490.1:c.1579C>T p.Gln527Ter p.Q527* ENST00000370490 527 Cag/Tag 0 -SMC2 UCSF GRCh37 9 106880459 106880459 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 112 18 133 0 ENST00000286398.7:c.1799C>T p.Pro600Leu p.P600L ENST00000286398 NM_006444.2 600 cCt/cTt 0 -SMG7 UCSF GRCh37 1 183514090 183514090 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 222 36 262 0 ENST00000347615.2:c.2013C>T p.Ile671= p.I671= ENST00000347615 NM_173156.2 671 atC/atT 0 -SMG9 UCSF GRCh37 19 44251951 44251951 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 55 10 53 0 ENST00000270066.6:c.324G>A p.Lys108= p.K108= ENST00000270066 NM_019108.2 108 aaG/aaA 0 -SMOC1 UCSF GRCh37 14 70418989 70418989 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 113 33 226 0 ENST00000381280.4:c.234C>T p.Thr78= p.T78= ENST00000381280 NM_022137.5 78 acC/acT 0 -SMOX UCSF GRCh37 20 4155907 4155907 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 102 36 162 0 ENST00000305958.4:c.205C>T p.Leu69Phe p.L69F ENST00000305958 NM_175839.2 69 Ctt/Ttt 0 -SNF8 UCSF GRCh37 17 47010644 47010644 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 125 32 169 0 ENST00000502492.1:c.487G>A p.Val163Met p.V163M ENST00000502492 163 Gtg/Atg 0 -SNIP1 UCSF GRCh37 1 38005897 38005897 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 151 47 214 0 ENST00000296215.6:c.787C>T p.Pro263Ser p.P263S ENST00000296215 NM_024700.3 263 Cca/Tca 0 -SNRPD2 UCSF GRCh37 19 46191721 46191721 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 176 45 217 0 ENST00000342669.3:c.106G>A p.Val36Ile p.V36I ENST00000342669 NM_004597.5 36 Gtc/Atc 0 -SNTG1 UCSF GRCh37 8 51362269 51362269 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 35 16 44 0 ENST00000518864.1:c.261C>T p.Ile87= p.I87= ENST00000518864 87 atC/atT 0 -SNUPN UCSF GRCh37 15 75890747 75890747 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 152 44 193 0 ENST00000308588.5:c.1035G>A p.Lys345= p.K345= ENST00000308588 NM_001042581.1 345 aaG/aaA 0 -SORBS3 UCSF GRCh37 8 22423953 22423953 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 170 19 209 0 ENST00000240123.7:c.1046C>T p.Pro349Leu p.P349L ENST00000240123 NM_005775.4 349 cCc/cTc 0 -SOS2 UCSF GRCh37 14 50585328 50585328 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 81 27 144 0 ENST00000216373.5:c.3733G>A p.Asp1245Asn p.D1245N ENST00000216373 NM_006939.2 1245 Gat/Aat 0 -SPAG11B UCSF GRCh37 8 7320250 7320250 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 173 32 503 0 ENST00000297498.2:c.193C>T p.Pro65Ser p.P65S ENST00000297498 NM_016512.3 65 Ccg/Tcg 0 -SPAG17 UCSF GRCh37 1 118565973 118565973 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 79 21 111 0 ENST00000336338.5:c.4023G>A p.Gln1341= p.Q1341= ENST00000336338 NM_206996.2 1341 caG/caA 0 -SPAG9 UCSF GRCh37 17 49083481 49083481 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 238 60 306 0 ENST00000262013.7:c.1389G>A p.Glu463= p.E463= ENST00000262013 NM_001130528.2 463 gaG/gaA 0 -SPEN UCSF GRCh37 1 16259115 16259115 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 176 57 303 0 ENST00000375759.3:c.6380C>T p.Pro2127Leu p.P2127L ENST00000375759 NM_015001.2 2127 cCc/cTc 0 -SPON1 UCSF GRCh37 11 14287095 14287095 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 60 32 148 0 ENST00000310358.7:n.2821C>T *941* ENST00000310358 0 -SPRED2 UCSF GRCh37 2 65571911 65571911 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 35 12 95 0 ENST00000356388.4:c.146C>T p.Pro49Leu p.P49L ENST00000356388 NM_181784.2 49 cCc/cTc 0 -SRRM3 UCSF GRCh37 7 75915110 75915110 + 3_prime_UTR_variant 3'UTR SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 9 6 16 0 ENST00000326382.8:c.*117C>T *39* ENST00000326382 NM_001110199.1 0 -SRSF4 UCSF GRCh37 1 29475117 29475117 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 341 47 508 0 ENST00000373795.4:c.1290G>A p.Glu430= p.E430= ENST00000373795 NM_005626.4 430 gaG/gaA 0 -SRSF7 UCSF GRCh37 2 38977222 38977222 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 121 41 188 0 ENST00000313117.6:c.143G>A p.Gly48Glu p.G48E ENST00000313117 NM_001195446.1 48 gGa/gAa 0 -SSC5D UCSF GRCh37 19 56009384 56009384 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 52 13 55 0 ENST00000389623.6:c.1525G>A p.Gly509Ser p.G509S ENST00000389623 NM_001144950.1 509 Ggc/Agc 0 -SSPN UCSF GRCh37 12 26377228 26377228 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 348 65 304 0 ENST00000242729.2:c.282C>T p.Val94= p.V94= ENST00000242729 NM_005086.4 94 gtC/gtT 0 -SSPO UCSF GRCh37 7 149489775 149489775 + non_coding_transcript_exon_variant RNA SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 43 12 100 0 ENST00000378016.2:n.5831G>T *1944* ENST00000378016 0 -STAM UCSF GRCh37 10 17750927 17750927 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 158 42 160 0 ENST00000377524.3:c.1362G>A p.Gln454= p.Q454= ENST00000377524 NM_003473.3 454 caG/caA 0 -STBD1 UCSF GRCh37 4 77228007 77228007 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 11 6 30 0 ENST00000237642.6:c.85G>A p.Asp29Asn p.D29N ENST00000237642 NM_003943.4 29 Gac/Aac 0 -STK4 UCSF GRCh37 20 43629817 43629817 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 85 19 112 0 ENST00000372806.3:c.970G>A p.Glu324Lys p.E324K ENST00000372806 NM_006282.2 324 Gaa/Aaa 0 -STRA6 UCSF GRCh37 15 74473662 74473662 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 37 6 46 0 ENST00000323940.5:c.1658C>T p.Pro553Leu p.P553L ENST00000323940 NM_001142618.1 553 cCa/cTa 0 -SUFU UCSF GRCh37 10 104309744 104309744 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 133 44 256 0 ENST00000369902.3:c.335G>A p.Gly112Glu p.G112E ENST00000369902 NM_016169.3 112 gGa/gAa 0 -SUMF1 UCSF GRCh37 3 4452646 4452646 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 150 29 175 0 ENST00000272902.5:c.857C>T p.Pro286Leu p.P286L ENST00000272902 NM_182760.3 286 cCc/cTc 0 -SUPV3L1 UCSF GRCh37 10 70949130 70949130 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 117 14 143 0 ENST00000359655.4:c.680G>A p.Gly227Glu p.G227E ENST00000359655 NM_003171.3 227 gGa/gAa 0 -SVEP1 UCSF GRCh37 9 113151837 113151837 + missense_variant Missense_Mutation SNP T T C 1000g2011may_all_0.0014 P21_Rec Untested WXS Illumina HiSeq 133 107 239 0 ENST00000374469.1:c.9784A>G p.Arg3262Gly p.R3262G ENST00000374469 3262 Aga/Gga 0 -SVIL UCSF GRCh37 10 29822130 29822130 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 151 30 189 0 ENST00000355867.4:c.1166C>T p.Ser389Phe p.S389F ENST00000355867 NM_021738.2 389 tCt/tTt 0 -SYCE1 UCSF GRCh37 10 135369192 135369192 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 21 17 74 0 ENST00000343131.5:c.739C>T p.His247Tyr p.H247Y ENST00000343131 NM_001143764.1 247 Cac/Tac 0 -SYMPK UCSF GRCh37 19 46352083 46352083 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 108 66 179 0 ENST00000245934.7:c.351C>T p.Leu117= p.L117= ENST00000245934 NM_004819.2 117 ctC/ctT 0 -SYNJ1 UCSF GRCh37 21 34067381 34067381 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 272 35 211 0 ENST00000433931.2:c.808G>A p.Val270Ile p.V270I ENST00000433931 NM_003895.3 270 Gta/Ata 0 -SYNPO UCSF GRCh37 5 150028638 150028638 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 31 16 92 0 ENST00000394243.1:c.1533G>A p.Glu511= p.E511= ENST00000394243 NM_001166208.1 511 gaG/gaA 0 -TAF1 UCSF GRCh37 X 70618489 70618489 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 38 21 78 0 ENST00000373790.4:c.3685G>A p.Glu1229Lys p.E1229K ENST00000373790 NM_004606.3 1229 Gag/Aag 0 -TAF1L UCSF GRCh37 9 32633675 32633675 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 200 54 240 0 ENST00000242310.4:c.1903C>T p.His635Tyr p.H635Y ENST00000242310 NM_153809.2 635 Cat/Tat 0 -TAP1 UCSF GRCh37 6 32816791 32816791 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 43 8 30 0 ENST00000354258.4:c.1533G>A p.Gln511= p.Q511= ENST00000354258 NM_000593.5 511 caG/caA 0 -TARBP1 UCSF GRCh37 1 234534285 234534285 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 66 18 75 0 ENST00000040877.1:c.4086C>T p.Ile1362= p.I1362= ENST00000040877 NM_005646.3 1362 atC/atT 0 -TAS2R30 UCSF GRCh37 12 11286352 11286352 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 525 110 535 0 ENST00000539585.1:c.492G>A p.Trp164Ter p.W164* ENST00000539585 NM_001097643.1 164 tgG/tgA 0 -TBC1D10A UCSF GRCh37 22 30722783 30722783 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 27 10 36 0 ENST00000215790.7:c.88C>T p.Pro30Ser p.P30S ENST00000215790 NM_031937.2 30 Ccc/Tcc 0 -TBCB UCSF GRCh37 19 36611642 36611642 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Rec Untested WXS Illumina HiSeq 53 11 68 0 ENST00000221855.3:c.289G>C p.Glu97Gln p.E97Q ENST00000221855 NM_001281.2 97 Gag/Cag 0 -TBP UCSF GRCh37 6 170876034 170876034 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 18 9 68 0 ENST00000230354.6:c.614G>A p.Arg205Lys p.R205K ENST00000230354 205 aGa/aAa 0 -TBX10 UCSF GRCh37 11 67399796 67399796 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 100 27 136 0 ENST00000335385.3:c.861G>A p.Arg287= p.R287= ENST00000335385 NM_005995.4 287 agG/agA 0 -TCEB3 UCSF GRCh37 1 24078002 24078002 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.00094 P21_Rec Untested WXS Illumina HiSeq 137 34 206 0 ENST00000418390.2:c.985G>A p.Asp329Asn p.D329N ENST00000418390 NM_003198.2 329 Gac/Aac 0 -TCOF1 UCSF GRCh37 5 149756077 149756077 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 24 8 52 0 ENST00000377797.3:c.2234G>A p.Gly745Glu p.G745E ENST00000377797 NM_001135243.1 745 gGg/gAg 0 -TDP1 UCSF GRCh37 14 90458304 90458304 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 52 14 89 0 ENST00000335725.4:c.1410G>A p.Gln470= p.Q470= ENST00000335725 NM_018319.3 470 caG/caA 0 -TDRD1 UCSF GRCh37 10 115986970 115986970 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 79 28 185 0 ENST00000251864.2:c.3315G>A p.Glu1105= p.E1105= ENST00000251864 NM_198795.1 1105 gaG/gaA 0 -TET1 UCSF GRCh37 10 70427014 70427014 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 45 5 53 0 ENST00000373644.4:c.4673+1G>A p.X1558_splice ENST00000373644 NM_030625.2 0 -TEX2 UCSF GRCh37 17 62290570 62290570 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 117 37 140 0 ENST00000583097.1:c.1008G>A p.Gly336= p.G336= ENST00000583097 336 ggG/ggA 0 -TFEB UCSF GRCh37 6 41658886 41658886 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 26 6 17 0 ENST00000230323.4:c.66G>A p.Arg22= p.R22= ENST00000230323 NM_007162.2 22 cgG/cgA 0 -TFG UCSF GRCh37 3 100438827 100438827 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 59 13 80 0 ENST00000240851.4:c.193C>T p.Leu65Phe p.L65F ENST00000240851 NM_001195478.1 65 Ctt/Ttt 0 -THAP6 UCSF GRCh37 4 76442089 76442089 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 38 38 121 0 ENST00000311638.3:c.188C>T p.Ser63Leu p.S63L ENST00000311638 NM_144721.4 63 tCg/tTg 0 -THBS1 UCSF GRCh37 15 39882761 39882761 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 92 26 107 0 ENST00000260356.5:c.2190C>T p.Asp730= p.D730= ENST00000260356 NM_003246.2 730 gaC/gaT 0 -THRA UCSF GRCh37 17 38242972 38242972 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 25 117 0 ENST00000264637.4:c.589G>A p.Gly197Ser p.G197S ENST00000264637 NM_003250.5 197 Ggc/Agc 0 -THSD4 UCSF GRCh37 15 72030269 72030269 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 132 27 229 0 ENST00000355327.3:c.1829C>T p.Pro610Leu p.P610L ENST00000355327 610 cCg/cTg 0 -THSD7A UCSF GRCh37 7 11632897 11632897 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 236 51 411 0 ENST00000423059.4:c.1255G>A p.Val419Ile p.V419I ENST00000423059 NM_015204.2 419 Gtt/Att 0 -THSD7A UCSF GRCh37 7 11632919 11632919 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 237 36 422 0 ENST00000423059.4:c.1233C>T p.Pro411= p.P411= ENST00000423059 NM_015204.2 411 ccC/ccT 0 -THUMPD2 UCSF GRCh37 2 39982434 39982434 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 38 21 57 0 ENST00000505747.1:c.1078+1G>A p.X360_splice ENST00000505747 NM_025264.4 0 -TIGD3 UCSF GRCh37 11 65124305 65124305 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 99 22 129 0 ENST00000309880.5:c.1026C>A p.His342Gln p.H342Q ENST00000309880 NM_145719.2 342 caC/caA 0 -TIMP3 UCSF GRCh37 22 33253331 33253331 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 117 17 163 0 ENST00000266085.6:c.300C>T p.Tyr100= p.Y100= ENST00000266085 NM_000362.4 100 taC/taT 0 -TLE2 UCSF GRCh37 19 3011090 3011090 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 13 6 34 0 ENST00000262953.6:c.942C>T p.Thr314= p.T314= ENST00000262953 NM_003260.4 314 acC/acT 0 -TLR9 UCSF GRCh37 3 52255337 52255337 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 116 26 172 0 ENST00000360658.2:c.2995C>T p.Pro999Ser p.P999S ENST00000360658 NM_017442.3 999 Ccc/Tcc 0 -TMBIM6 UCSF GRCh37 12 50146858 50146858 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 61 25 144 0 ENST00000267115.5:c.159C>T p.Phe53= p.F53= ENST00000267115 NM_003217.2 53 ttC/ttT 0 -TMC3 UCSF GRCh37 15 81627309 81627309 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 162 42 253 0 ENST00000359440.5:c.2211C>T p.Ile737= p.I737= ENST00000359440 NM_001080532.1 737 atC/atT 0 -TMC6 UCSF GRCh37 17 76122611 76122611 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 37 11 66 0 ENST00000322914.3:c.175G>A p.Val59Met p.V59M ENST00000322914 NM_007267.6 59 Gtg/Atg 0 -TMCO4 UCSF GRCh37 1 20066374 20066374 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 81 35 119 0 ENST00000294543.6:c.1122C>T p.Leu374= p.L374= ENST00000294543 NM_181719.4 374 ctC/ctT 0 -TMEM106B UCSF GRCh37 7 12258127 12258127 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 33 14 43 0 ENST00000396667.3:c.261G>A p.Gln87= p.Q87= ENST00000396667 NM_018374.3 87 caG/caA 0 -TMEM237 UCSF GRCh37 2 202503751 202503751 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 72 18 116 0 ENST00000409883.2:c.97C>T p.Arg33Cys p.R33C ENST00000409883 NM_001044385.2 33 Cgt/Tgt 0 -TMEM74 UCSF GRCh37 8 109796670 109796670 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 123 19 122 0 ENST00000297459.3:c.658G>A p.Glu220Lys p.E220K ENST00000297459 NM_153015.1 220 Gag/Aag 0 -TMPRSS15 UCSF GRCh37 21 19685352 19685352 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 163 32 163 0 ENST00000284885.3:c.2075G>A p.Arg692Gln p.R692Q ENST00000284885 NM_002772.2 692 cGg/cAg 0 -TMPRSS15 UCSF GRCh37 21 19687538 19687538 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 108 26 117 0 ENST00000284885.3:c.1957G>A p.Gly653Arg p.G653R ENST00000284885 NM_002772.2 653 Gga/Aga 0 -TMTC2 UCSF GRCh37 12 83290098 83290098 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 240 77 402 0 ENST00000321196.3:c.1156C>T p.Gln386Ter p.Q386* ENST00000321196 NM_152588.1 386 Cag/Tag 0 -TMTC4 UCSF GRCh37 13 101288914 101288914 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 56 29 230 0 ENST00000376234.3:c.1017G>A p.Trp339Ter p.W339* ENST00000376234 NM_001079669.1 339 tgG/tgA 0 -TNFRSF10A UCSF GRCh37 8 23082424 23082424 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 19 5 23 0 ENST00000221132.3:c.151G>A p.Gly51Ser p.G51S ENST00000221132 NM_003844.3 51 Ggc/Agc 0 -TNFRSF1A UCSF GRCh37 12 6439070 6439070 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 22 8 21 0 ENST00000162749.2:c.931C>T p.Arg311Cys p.R311C ENST00000162749 NM_001065.3 311 Cgc/Tgc 0 -TNFRSF8 UCSF GRCh37 1 12198444 12198444 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 31 4 58 0 ENST00000263932.2:c.1494G>A p.Arg498= p.R498= ENST00000263932 NM_001243.3 498 agG/agA 0 -TNKS1BP1 UCSF GRCh37 11 57088121 57088121 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 30 6 43 0 ENST00000358252.3:c.160C>T p.Pro54Ser p.P54S ENST00000358252 NM_033396.2 54 Cct/Tct 0 -TNPO3 UCSF GRCh37 7 128610265 128610265 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 165 68 295 0 ENST00000265388.5:c.2535C>T p.Leu845= p.L845= ENST00000265388 845 ctC/ctT 0 -TNRC6A UCSF GRCh37 16 24826609 24826609 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 67 21 91 0 ENST00000395799.3:c.4814G>A p.Ser1605Asn p.S1605N ENST00000395799 NM_014494.2 1605 aGt/aAt 0 -TNRC6B UCSF GRCh37 22 40681770 40681770 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 339 73 405 0 ENST00000454349.2:c.3704C>T p.Pro1235Leu p.P1235L ENST00000454349 NM_001162501.1 1235 cCc/cTc 0 -TOM1L2 UCSF GRCh37 17 17786035 17786035 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 116 28 153 0 ENST00000379504.3:c.644C>T p.Thr215Ile p.T215I ENST00000379504 NM_001082968.1 215 aCa/aTa 0 -TOPBP1 UCSF GRCh37 3 133331320 133331320 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 164 37 206 0 ENST00000260810.5:c.3948G>A p.Glu1316= p.E1316= ENST00000260810 NM_007027.3 1316 gaG/gaA 0 -TOPBP1 UCSF GRCh37 3 133375522 133375522 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 237 59 234 0 ENST00000260810.5:c.543G>A p.Glu181= p.E181= ENST00000260810 NM_007027.3 181 gaG/gaA 0 -TOR2A UCSF GRCh37 9 130496642 130496642 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 62 19 70 0 ENST00000373284.5:c.353C>T p.Pro118Leu p.P118L ENST00000373284 NM_001085347.2 118 cCc/cTc 0 -TP53 UCSF GRCh37 17 7578388 7578388 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 53 43 127 0 ENST00000269305.4:c.542G>C p.Arg181Pro p.R181P ENST00000269305 NM_001126112.2 181 cGc/cCc 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 58 44 129 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TP53 UCSF GRCh37 17 7579434 7579434 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 152 59 241 0 ENST00000269305.4:c.253C>T p.Pro85Ser p.P85S ENST00000269305 NM_001126112.2 85 Cct/Tct 0 -TPM4 UCSF GRCh37 19 16186900 16186900 + upstream_gene_variant 5'Flank SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 24 3 31 0 ENST00000300933 NM_003290.2 0 -TPO UCSF GRCh37 2 1507752 1507752 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 68 25 136 0 ENST00000329066.4:c.2419C>T p.Pro807Ser p.P807S ENST00000329066 NM_001206744.1 807 Ccc/Tcc 0 -TPTE2 UCSF GRCh37 13 20056662 20056662 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 63 26 189 0 ENST00000400230.2:c.145G>A p.Glu49Lys p.E49K ENST00000400230 49 Gaa/Aaa 0 -TRHDE UCSF GRCh37 12 72771831 72771831 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 73 15 75 0 ENST00000261180.4:c.1110C>T p.Leu370= p.L370= ENST00000261180 NM_013381.2 370 ctC/ctT 0 -TRIM14 UCSF GRCh37 9 100850237 100850237 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 13 4 17 0 ENST00000341469.2:c.844C>T p.Leu282= p.L282= ENST00000341469 NM_014788.2 282 Ctg/Ttg 0 -TRIM28 UCSF GRCh37 19 59059517 59059517 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 316 77 457 0 ENST00000253024.5:c.1071C>T p.Asn357= p.N357= ENST00000253024 NM_005762.2 357 aaC/aaT 0 -TRIM44 UCSF GRCh37 11 35706878 35706878 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 29 23 111 0 ENST00000299413.5:c.741C>T p.Asp247= p.D247= ENST00000299413 NM_017583.4 247 gaC/gaT 0 -TRIOBP UCSF GRCh37 22 38151613 38151613 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 107 30 156 0 ENST00000406386.3:c.5634G>A p.Trp1878Ter p.W1878* ENST00000406386 NM_001039141.2 1878 tgG/tgA 0 -TRMT12 UCSF GRCh37 8 125464397 125464397 + missense_variant Missense_Mutation SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 175 27 153 0 ENST00000328599.3:c.1229T>C p.Val410Ala p.V410A ENST00000328599 NM_017956.3 410 gTg/gCg 0 -TRO UCSF GRCh37 X 54949475 54949475 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 50 13 70 0 ENST00000173898.7:c.510G>A p.Leu170= p.L170= ENST00000173898 NM_001039705.2 170 ttG/ttA 0 -TRPS1 UCSF GRCh37 8 116426892 116426892 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 315 48 228 0 ENST00000220888.5:c.3205G>A p.Glu1069Lys p.E1069K ENST00000220888 1069 Gaa/Aaa 0 -TSFM UCSF GRCh37 12 58190181 58190181 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 41 10 60 0 ENST00000454289.3:c.793C>T p.Pro265Ser p.P265S ENST00000454289 NM_005726.5 265 Ccc/Tcc 0 -TSHZ3 UCSF GRCh37 19 31768293 31768293 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 157 31 216 0 ENST00000240587.4:c.2406C>T p.Ser802= p.S802= ENST00000240587 NM_020856.2 802 tcC/tcT 0 -TSPAN3 UCSF GRCh37 15 77339196 77339196 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 17 4 35 0 ENST00000267970.4:c.743C>T p.Thr248Ile p.T248I ENST00000267970 NM_001168412.1 248 aCt/aTt 0 -TST UCSF GRCh37 22 37414267 37414267 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 53 13 69 0 ENST00000249042.3:c.507G>A p.Leu169= p.L169= ENST00000249042 NM_003312.5 169 ctG/ctA 0 -TTC17 UCSF GRCh37 11 43469637 43469637 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 50 40 158 0 ENST00000039989.4:c.2751G>A p.Val917= p.V917= ENST00000039989 NM_018259.5 917 gtG/gtA 0 -TTC21B UCSF GRCh37 2 166756331 166756331 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 50 23 91 0 ENST00000243344.7:c.2817G>A p.Arg939= p.R939= ENST00000243344 NM_024753.4 939 cgG/cgA 0 -TTC21B UCSF GRCh37 2 166797655 166797655 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 81 25 128 0 ENST00000243344.7:c.592C>T p.Leu198= p.L198= ENST00000243344 NM_024753.4 198 Ctg/Ttg 0 -TTC4 UCSF GRCh37 1 55207137 55207137 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 161 28 216 0 ENST00000371281.3:c.1115C>T p.Pro372Leu p.P372L ENST00000371281 NM_004623.4 372 cCt/cTt 0 -TTK UCSF GRCh37 6 80736183 80736183 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 80 39 229 0 ENST00000369798.2:c.1346C>T p.Ser449Phe p.S449F ENST00000369798 NM_003318.4 449 tCt/tTt 0 -TTN UCSF GRCh37 2 179560080 179560080 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 68 25 127 0 ENST00000591111.1:c.30314C>T p.Pro10105Leu p.P10105L ENST00000591111 10105 cCt/cTt 0 -TTN UCSF GRCh37 2 179427207 179427207 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 223 75 385 0 ENST00000591111.1:c.78729G>A p.Trp26243Ter p.W26243* ENST00000591111 26243 tgG/tgA 0 -TUBAL3 UCSF GRCh37 10 5436278 5436278 + synonymous_variant Silent SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 115 57 142 0 ENST00000380419.3:c.543C>A p.Ala181= p.A181= ENST00000380419 NM_024803.2 181 gcC/gcA 0 -TUFT1 UCSF GRCh37 1 151546806 151546806 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 73 21 93 0 ENST00000368849.3:c.655G>A p.Glu219Lys p.E219K ENST00000368849 NM_020127.2 219 Gag/Aag 0 -TXNDC12 UCSF GRCh37 1 52489209 52489209 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 107 30 144 0 ENST00000371626.4:c.393G>A p.Glu131= p.E131= ENST00000371626 NM_015913.3 131 gaG/gaA 0 -TXNDC16 UCSF GRCh37 14 52899137 52899137 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 103 28 155 1 ENST00000281741.4:c.2363G>A p.Arg788Lys p.R788K ENST00000281741 NM_020784.2 788 aGa/aAa 0 -TXNDC5 UCSF GRCh37 6 7884664 7884664 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 174 38 213 0 ENST00000379757.4:c.1104C>T p.Phe368= p.F368= ENST00000379757 NM_030810.3 368 ttC/ttT 0 -TYMP UCSF GRCh37 22 50967706 50967706 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 74 18 102 0 ENST00000252029.3:c.276C>T p.Thr92= p.T92= ENST00000252029 NM_001953.4 92 acC/acT 0 -TYW1B UCSF GRCh37 7 72178679 72178679 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 121 41 330 0 ENST00000343721.5:c.148C>T p.Pro50Ser p.P50S ENST00000343721 50 Cca/Tca 0 -TYW5 UCSF GRCh37 2 200798002 200798002 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 79 29 132 0 ENST00000354611.4:c.736G>A p.Val246Met p.V246M ENST00000354611 NM_001039693.2 246 Gtg/Atg 0 -U2AF2 UCSF GRCh37 19 56171880 56171880 + splice_acceptor_variant Splice_Site SNP A A C NOVEL P21_Rec Untested WXS Illumina HiSeq 18 6 28 1 ENST00000308924.4:c.231-2A>C p.X77_splice ENST00000308924 0 -U2SURP UCSF GRCh37 3 142735817 142735817 + splice_region_variant,synonymous_variant Splice_Region SNP T T A NOVEL P21_Rec Untested WXS Illumina HiSeq 158 26 167 0 ENST00000473835.2:c.570T>A p.Pro190= p.P190= ENST00000473835 NM_001080415.1 190 ccT/ccA 0 -UBE4B UCSF GRCh37 1 10221321 10221321 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 101 27 141 0 ENST00000343090.6:c.3175G>A p.Glu1059Lys p.E1059K ENST00000343090 NM_001105562.2 1059 Gaa/Aaa 0 -UBFD1 UCSF GRCh37 16 23570865 23570865 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 97 24 134 0 ENST00000395878.3:c.432G>A p.Val144= p.V144= ENST00000395878 NM_019116.2 144 gtG/gtA 0 -UBOX5 UCSF GRCh37 20 3102943 3102943 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 113 16 133 0 ENST00000217173.2:c.342G>A p.Ala114= p.A114= ENST00000217173 NM_001267584.1 114 gcG/gcA 0 -UGDH UCSF GRCh37 4 39511429 39511429 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.003,1000g2011may_all_0.0022 P21_Rec Untested WXS Illumina HiSeq 92 15 114 1 ENST00000316423.6:c.762G>A p.Ala254= p.A254= ENST00000316423 NM_001184701.1 254 gcG/gcA 0 -UGP2 UCSF GRCh37 2 64109776 64109776 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 99 41 173 1 ENST00000337130.5:c.432G>A p.Gln144= p.Q144= ENST00000337130 NM_006759.3 144 caG/caA 0 -UMODL1 UCSF GRCh37 21 43543178 43543178 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 113 15 151 0 ENST00000408910.2:c.3065C>T p.Pro1022Leu p.P1022L ENST00000408910 NM_001004416.2 1022 cCc/cTc 0 -UNC13B UCSF GRCh37 9 35385781 35385781 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 151 45 184 0 ENST00000378495.3:c.2689C>T p.Leu897= p.L897= ENST00000378495 NM_006377.3 897 Ctg/Ttg 0 -UNC79 UCSF GRCh37 14 94063753 94063753 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 135 29 241 0 ENST00000393151.2:c.3239C>T p.Thr1080Ile p.T1080I ENST00000393151 1080 aCc/aTc 0 -UNC80 UCSF GRCh37 2 210840926 210840926 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 30 21 92 0 ENST00000439458.1:c.8473C>T p.Leu2825= p.L2825= ENST00000439458 NM_032504.1 2825 Ctg/Ttg 0 -UNKL UCSF GRCh37 16 1416349 1416349 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 10 5 29 0 ENST00000389221.4:c.1935G>A p.Arg645= p.R645= ENST00000389221 NM_001193388.3 645 cgG/cgA 0 -URM1 UCSF GRCh37 9 131140376 131140376 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 305 87 432 0 ENST00000372853.4:c.97G>A p.Glu33Lys p.E33K ENST00000372853 NM_001265582.1 33 Gag/Aag 0 -UROC1 UCSF GRCh37 3 126211359 126211359 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 39 6 60 0 ENST00000290868.2:c.1510G>A p.Val504Met p.V504M ENST00000290868 NM_144639.2 504 Gtg/Atg 0 -USP15 UCSF GRCh37 12 62688014 62688014 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 77 16 87 0 ENST00000280377.5:c.144C>T p.Asp48= p.D48= ENST00000280377 NM_001252078.1 48 gaC/gaT 0 -USP24 UCSF GRCh37 1 55591349 55591349 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 112 36 179 0 ENST00000294383.6:c.3718C>T p.Leu1240= p.L1240= ENST00000294383 NM_015306.2 1240 Cta/Tta 0 -USP4 UCSF GRCh37 3 49316274 49316274 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 228 59 342 1 ENST00000265560.4:c.2706G>A p.Val902= p.V902= ENST00000265560 NM_003363.3 902 gtG/gtA 0 -VARS UCSF GRCh37 6 31759704 31759704 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 53 6 49 0 ENST00000375663.3:c.916G>A p.Glu306Lys p.E306K ENST00000375663 NM_006295.2 306 Gag/Aag 0 -VARS UCSF GRCh37 6 31747218 31747218 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 74 9 39 0 ENST00000375663.3:c.3384C>T p.Thr1128= p.T1128= ENST00000375663 NM_006295.2 1128 acC/acT 0 -VPRBP UCSF GRCh37 3 51440745 51440745 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 294 90 442 0 ENST00000423656.1:c.3010C>T p.Leu1004= p.L1004= ENST00000423656 1004 Ctg/Ttg 0 -VPS13C UCSF GRCh37 15 62202505 62202505 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 44 8 57 0 ENST00000261517.5:c.8716-1G>A p.X2906_splice ENST00000261517 NM_020821.2 0 -VPS37C UCSF GRCh37 11 60900006 60900006 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 40 14 76 0 ENST00000301765.5:c.354G>A p.Met118Ile p.M118I ENST00000301765 NM_017966.4 118 atG/atA 0 -VPS41 UCSF GRCh37 7 38835080 38835080 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 87 28 196 0 ENST00000310301.4:c.702G>A p.Trp234Ter p.W234* ENST00000310301 NM_014396.3 234 tgG/tgA 0 -VWC2 UCSF GRCh37 7 49951759 49951759 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 66 11 130 0 ENST00000340652.4:c.956G>A p.Arg319Lys p.R319K ENST00000340652 NM_198570.3 319 aGa/aAa 0 -WAPAL UCSF GRCh37 10 88259980 88259980 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 200 66 406 0 ENST00000298767.5:c.1020G>A p.Gly340= p.G340= ENST00000298767 NM_015045.2 340 ggG/ggA 0 -WBP2NL UCSF GRCh37 22 42418293 42418293 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 117 34 150 0 ENST00000328823.9:c.447C>T p.Phe149= p.F149= ENST00000328823 NM_152613.2 149 ttC/ttT 0 -WDHD1 UCSF GRCh37 14 55408278 55408278 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 68 21 85 0 ENST00000360586.3:c.3320C>T p.Ser1107Phe p.S1107F ENST00000360586 NM_007086.3 1107 tCt/tTt 0 -WDR19 UCSF GRCh37 4 39206875 39206875 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 228 45 204 0 ENST00000399820.3:c.705C>T p.Val235= p.V235= ENST00000399820 NM_025132.3 235 gtC/gtT 0 -WDR33 UCSF GRCh37 2 128463960 128463960 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 161 55 310 0 ENST00000322313.4:c.3948G>A p.Gly1316= p.G1316= ENST00000322313 NM_018383.4 1316 ggG/ggA 0 -WDR34 UCSF GRCh37 9 131403107 131403107 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 79 22 124 0 ENST00000372715.2:c.298C>T p.Pro100Ser p.P100S ENST00000372715 NM_052844.3 100 Ccg/Tcg 0 -WDR35 UCSF GRCh37 2 20166556 20166556 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 61 22 118 0 ENST00000345530.3:c.1123G>A p.Gly375Ser p.G375S ENST00000345530 NM_001006657.1 375 Ggt/Agt 0 -WDR36 UCSF GRCh37 5 110445982 110445982 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 218 48 229 0 ENST00000506538.2:c.1589G>A p.Gly530Glu p.G530E ENST00000506538 NM_139281.2 530 gGa/gAa 0 -WDR60 UCSF GRCh37 7 158718922 158718922 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 123 42 235 0 ENST00000407559.3:c.2302G>A p.Val768Ile p.V768I ENST00000407559 NM_018051.4 768 Gta/Ata 0 -WDR7 UCSF GRCh37 18 54363620 54363620 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 102 25 187 0 ENST00000254442.3:c.1505G>A p.Gly502Glu p.G502E ENST00000254442 NM_015285.2 502 gGa/gAa 0 -WDR7 UCSF GRCh37 18 54385293 54385293 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 91 28 160 0 ENST00000254442.3:c.1677C>T p.His559= p.H559= ENST00000254442 NM_015285.2 559 caC/caT 0 -WNK2 UCSF GRCh37 9 96010058 96010058 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 14 6 26 0 ENST00000297954.4:c.1776G>A p.Pro592= p.P592= ENST00000297954 NM_001282394.1 592 ccG/ccA 0 -WNK2 UCSF GRCh37 9 96051290 96051290 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 28 7 40 0 ENST00000297954.4:c.4365G>A p.Gly1455= p.G1455= ENST00000297954 NM_001282394.1 1455 ggG/ggA 0 -WT1 UCSF GRCh37 11 32456391 32456391 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 13 4 26 0 ENST00000332351.3:c.501G>A p.Gln167= p.Q167= ENST00000332351 NM_024426.4 167 caG/caA 0 -XAB2 UCSF GRCh37 19 7687515 7687515 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 70 21 113 0 ENST00000358368.4:c.1404G>A p.Glu468= p.E468= ENST00000358368 NM_020196.2 468 gaG/gaA 0 -XAB2 UCSF GRCh37 19 7692635 7692635 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 159 31 186 0 ENST00000358368.4:c.303G>A p.Arg101= p.R101= ENST00000358368 NM_020196.2 101 agG/agA 0 -XIRP2 UCSF GRCh37 2 168106609 168106609 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 105 44 179 0 ENST00000409195.1:c.8707G>A p.Gly2903Ser p.G2903S ENST00000409195 NM_152381.5 2903 Ggc/Agc 0 -XKR6 UCSF GRCh37 8 11058163 11058163 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 17 9 51 0 ENST00000416569.2:c.686G>A p.Gly229Glu p.G229E ENST00000416569 NM_173683.3 229 gGg/gAg 0 -YAF2 UCSF GRCh37 12 42555550 42555550 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 49 6 98 0 ENST00000534854.2:c.170C>T p.Ser57Phe p.S57F ENST00000534854 NM_005748.4 57 tCc/tTc 0 -YLPM1 UCSF GRCh37 14 75295966 75295966 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 252 53 423 0 ENST00000325680.7:c.6214G>A p.Ala2072Thr p.A2072T ENST00000325680 NM_019589.2 2072 Gcc/Acc 0 -YWHAZ UCSF GRCh37 8 101932975 101932975 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 117 15 112 0 ENST00000353245.3:c.684G>A p.Trp228Ter p.W228* ENST00000353245 NM_003406.3 228 tgG/tgA 0 -ZACN UCSF GRCh37 17 74078655 74078655 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 105 20 136 0 ENST00000334586.5:c.1160G>A p.Gly387Glu p.G387E ENST00000334586 NM_180990.3 387 gGa/gAa 0 -ZBTB9 UCSF GRCh37 6 33423368 33423368 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 290 38 212 0 ENST00000395064.2:c.491C>T p.Ser164Phe p.S164F ENST00000395064 NM_152735.3 164 tCc/tTc 0 -ZEB1 UCSF GRCh37 10 31784732 31784732 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 273 46 279 0 ENST00000320985.10:c.284G>A p.Gly95Glu p.G95E ENST00000320985 95 gGg/gAg 0 -ZFHX3 UCSF GRCh37 16 72821920 72821920 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 68 27 111 0 ENST00000268489.5:c.10255C>T p.Pro3419Ser p.P3419S ENST00000268489 NM_006885.3 3419 Ccc/Tcc 0 -ZFHX4 UCSF GRCh37 8 77766808 77766808 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 250 87 398 0 ENST00000521891.2:c.7651C>T p.Leu2551= p.L2551= ENST00000521891 NM_024721.4 2551 Ctg/Ttg 0 -ZFPM2 UCSF GRCh37 8 106813523 106813523 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 517 58 505 0 ENST00000407775.2:c.1213G>A p.Glu405Lys p.E405K ENST00000407775 NM_012082.3 405 Gaa/Aaa 0 -ZFPM2 UCSF GRCh37 8 106813752 106813752 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 443 84 453 0 ENST00000407775.2:c.1442C>T p.Ser481Leu p.S481L ENST00000407775 NM_012082.3 481 tCa/tTa 0 -ZFYVE26 UCSF GRCh37 14 68282603 68282603 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 105 21 176 0 ENST00000347230.4:c.78G>A p.Arg26= p.R26= ENST00000347230 NM_015346.3 26 agG/agA 0 -ZFYVE9 UCSF GRCh37 1 52811748 52811748 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 110 36 184 0 ENST00000287727.3:c.4133G>A p.Gly1378Glu p.G1378E ENST00000287727 NM_004799.3 1378 gGg/gAg 0 -ZHX2 UCSF GRCh37 8 123964106 123964106 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 252 45 236 1 ENST00000314393.4:c.356C>T p.Thr119Ile p.T119I ENST00000314393 NM_014943.3 119 aCc/aTc 0 -ZHX3 UCSF GRCh37 20 39833299 39833299 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 188 39 202 0 ENST00000309060.3:c.258C>T p.Ser86= p.S86= ENST00000309060 86 tcC/tcT 0 -ZNF107 UCSF GRCh37 7 64168031 64168031 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 102 16 103 0 ENST00000344930.3:c.1349G>A p.Ser450Asn p.S450N ENST00000344930 NM_001013746.1 450 aGc/aAc 0 -ZNF155 UCSF GRCh37 19 44501158 44501158 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 346 95 441 1 ENST00000270014.2:c.1149G>A p.Trp383Ter p.W383* ENST00000270014 NM_198089.2 383 tgG/tgA 0 -ZNF167 UCSF GRCh37 3 44612356 44612356 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 202 77 332 0 ENST00000273320.3:c.1754G>A p.Gly585Glu p.G585E ENST00000273320 NM_018651.2 585 gGg/gAg 0 -ZNF211 UCSF GRCh37 19 58152509 58152509 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 201 48 289 0 ENST00000347302.3:c.655G>A p.Ala219Thr p.A219T ENST00000347302 NM_198855.2 219 Gcg/Acg 0 -ZNF217 UCSF GRCh37 20 52192575 52192575 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 118 31 140 0 ENST00000302342.3:c.2728G>A p.Ala910Thr p.A910T ENST00000302342 NM_006526.2 910 Gca/Aca 0 -ZNF225 UCSF GRCh37 19 44635006 44635006 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 187 145 345 0 ENST00000262894.6:c.239G>A p.Gly80Asp p.G80D ENST00000262894 NM_013362.2 80 gGc/gAc 0 -ZNF248 UCSF GRCh37 10 38120932 38120932 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 338 65 277 1 ENST00000357328.4:c.1351C>T p.Leu451Phe p.L451F ENST00000357328 NM_001267597.1 451 Ctc/Ttc 0 -ZNF267 UCSF GRCh37 16 31925937 31925937 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 138 21 168 0 ENST00000300870.10:c.367G>A p.Glu123Lys p.E123K ENST00000300870 NM_003414.5 123 Gaa/Aaa 0 -ZNF292 UCSF GRCh37 6 87964427 87964427 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 139 81 346 0 ENST00000369577.3:c.1080G>A p.Glu360= p.E360= ENST00000369577 NM_015021.1 360 gaG/gaA 0 -ZNF331 UCSF GRCh37 19 54080807 54080807 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 151 19 207 0 ENST00000253144.9:c.993G>A p.Glu331= p.E331= ENST00000253144 NM_018555.5 331 gaG/gaA 0 -ZNF34 UCSF GRCh37 8 145999772 145999772 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 100 56 229 0 ENST00000343459.4:c.562C>T p.Pro188Ser p.P188S ENST00000343459 188 Cct/Tct 0 -ZNF410 UCSF GRCh37 14 74360506 74360506 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 90 36 167 0 ENST00000555044.1:c.40G>A p.Val14Ile p.V14I ENST00000555044 NM_021188.2 14 Gta/Ata 0 -ZNF434 UCSF GRCh37 16 3433513 3433513 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 84 27 149 0 ENST00000396846.3:c.1433C>T p.Ser478Phe p.S478F ENST00000396846 478 tCc/tTc 0 -ZNF444 UCSF GRCh37 19 56658566 56658566 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 10 7 28 0 ENST00000337080.3:c.286G>A p.Glu96Lys p.E96K ENST00000337080 NM_018337.3 96 Gag/Aag 0 -ZNF446 UCSF GRCh37 19 58989194 58989194 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 23 8 36 0 ENST00000594369.1:c.532+1G>A p.X178_splice ENST00000594369 NM_017908.2 0 -ZNF451 UCSF GRCh37 6 57017100 57017100 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 204 32 165 0 ENST00000370706.4:c.2834C>T p.Pro945Leu p.P945L ENST00000370706 NM_001031623.2 945 cCt/cTt 0 -ZNF454 UCSF GRCh37 5 178373410 178373410 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 105 15 203 0 ENST00000320129.3:c.84G>A p.Trp28Ter p.W28* ENST00000320129 NM_182594.2 28 tgG/tgA 0 -ZNF484 UCSF GRCh37 9 95610124 95610124 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 144 33 150 0 ENST00000375495.3:c.945G>A p.Lys315= p.K315= ENST00000375495 NM_031486.2 315 aaG/aaA 0 -ZNF497 UCSF GRCh37 19 58868933 58868933 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 19 8 36 0 ENST00000311044.3:c.69G>A p.Lys23= p.K23= ENST00000311044 NM_198458.2 23 aaG/aaA 0 -ZNF502 UCSF GRCh37 3 44762784 44762784 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 179 50 243 0 ENST00000296091.4:c.475G>A p.Glu159Lys p.E159K ENST00000296091 NM_001134440.1 159 Gaa/Aaa 0 -ZNF518B UCSF GRCh37 4 10445645 10445645 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 175 55 252 0 ENST00000326756.3:c.2308G>A p.Val770Met p.V770M ENST00000326756 NM_053042.2 770 Gtg/Atg 0 -ZNF546 UCSF GRCh37 19 40520077 40520077 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 194 64 233 0 ENST00000347077.4:c.900C>T p.Pro300= p.P300= ENST00000347077 NM_178544.3 300 ccC/ccT 0 -ZNF551 UCSF GRCh37 19 58196644 58196644 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 367 53 395 0 ENST00000282296.5:c.96G>A p.Glu32= p.E32= ENST00000282296 32 gaG/gaA 0 -ZNF564 UCSF GRCh37 19 12638717 12638717 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 131 52 161 0 ENST00000339282.7:c.205G>A p.Glu69Lys p.E69K ENST00000339282 NM_144976.3 69 Gag/Aag 0 -ZNF595 UCSF GRCh37 4 86793 86793 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 168 46 212 0 ENST00000380882.5:n.1171C>T *391* ENST00000380882 0 -ZNF614 UCSF GRCh37 19 52520123 52520123 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 101 87 160 0 ENST00000270649.6:c.728G>A p.Ser243Asn p.S243N ENST00000270649 NM_025040.3 243 aGt/aAt 0 -ZNF627 UCSF GRCh37 19 11725386 11725386 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 349 89 408 0 ENST00000361113.5:c.48G>A p.Glu16= p.E16= ENST00000361113 NM_145295.3 16 gaG/gaA 0 -ZNF653 UCSF GRCh37 19 11596546 11596546 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 228 45 294 0 ENST00000293771.5:c.1495G>A p.Val499Met p.V499M ENST00000293771 NM_138783.3 499 Gtg/Atg 0 -ZNF660 UCSF GRCh37 3 44636524 44636524 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 73 30 121 0 ENST00000322734.2:c.839G>A p.Gly280Glu p.G280E ENST00000322734 NM_173658.2 280 gGg/gAg 0 -ZNF689 UCSF GRCh37 16 30616479 30616479 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 28 176 0 ENST00000287461.3:c.609C>T p.Cys203= p.C203= ENST00000287461 NM_138447.2 203 tgC/tgT 0 -ZNF701 UCSF GRCh37 19 53077350 53077350 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 250 50 294 0 ENST00000301093.2:c.148G>A p.Val50Ile p.V50I ENST00000301093 50 Gta/Ata 0 -ZNF716 UCSF GRCh37 7 57510025 57510025 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 108 81 209 0 ENST00000420713.1:c.31C>T p.Arg11Ter p.R11* ENST00000420713 NM_001159279.1 11 Cga/Tga 0 -ZNF808 UCSF GRCh37 19 53058370 53058370 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 493 346 906 1 ENST00000359798.4:c.2201C>T p.Pro734Leu p.P734L ENST00000359798 NM_001039886.3 734 cCt/cTt 0 -ZNF93 UCSF GRCh37 19 20044216 20044216 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 116 33 103 0 ENST00000343769.5:c.452G>A p.Gly151Glu p.G151E ENST00000343769 NM_031218.3 151 gGg/gAg 0 -ZP3 UCSF GRCh37 7 76069815 76069815 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 211 43 345 0 ENST00000394857.3:c.947C>T p.Ala316Val p.A316V ENST00000394857 NM_001110354.1 316 gCt/gTt 0 -ZSCAN2 UCSF GRCh37 15 85164467 85164467 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 187 51 289 0 ENST00000448803.2:c.1041C>T p.Ser347= p.S347= ENST00000448803 NM_181877.3 347 tcC/tcT 0 -ZSCAN2 UCSF GRCh37 15 85165136 85165136 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 207 57 256 0 ENST00000448803.2:c.1710C>T p.Asn570= p.N570= ENST00000448803 NM_181877.3 570 aaC/aaT 0 -ZSWIM5 UCSF GRCh37 1 45525839 45525839 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 94 15 119 0 ENST00000359600.5:c.1033G>A p.Val345Met p.V345M ENST00000359600 NM_020883.1 345 Gtg/Atg 0 -ACVRL1 UCSF GRCh37 12 52309821 52309821 + splice_region_variant,synonymous_variant Splice_Region SNP C C A NOVEL P24_Pri Untested WXS Illumina HiSeq 99 22 89 1 ENST00000388922.4:c.1050C>A p.Gly350= p.G350= ENST00000388922 NM_000020.2 350 ggC/ggA 0 -ASPM UCSF GRCh37 1 197071895 197071895 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Pri Untested WXS Illumina HiSeq 202 119 445 0 ENST00000367409.4:c.6486G>C p.Lys2162Asn p.K2162N ENST00000367409 NM_018136.4 2162 aaG/aaC 0 -ATRX UCSF GRCh37 X 76939340 76939343 + frameshift_variant Frame_Shift_Del DEL CTAC CTAC - NOVEL P24_Pri Untested WXS Illumina HiSeq 53 0 ENST00000373344.5:c.1405_1408delGTAG p.Val469IlefsTer44 p.V469Ifs*44 ENST00000373344 NM_000489.3 469 GTAGat/at 0 -ATRX UCSF GRCh37 X 76920171 76920172 + frameshift_variant Frame_Shift_Del DEL TC TC - NOVEL P24_Pri Untested WXS Illumina HiSeq 15 0 ENST00000373344.5:c.3905_3906del p.Arg1302AsnfsTer6 p.R1302Nfs*6 ENST00000373344 NM_000489.3 1302 aGA/a 0 -CNTN6 UCSF GRCh37 3 1262473 1262473 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Pri Untested WXS Illumina HiSeq 93 11 144 0 ENST00000350110.2:c.158A>G p.Asn53Ser p.N53S ENST00000350110 NM_014461.2 53 aAt/aGt 0 -CYP4A22 UCSF GRCh37 1 47606476 47606476 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Pri Untested WXS Illumina HiSeq 179 39 258 0 ENST00000371891.3:c.220C>T p.Arg74Trp p.R74W ENST00000371891 NM_001010969.2 74 Cgg/Tgg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Pri Untested WXS Illumina HiSeq 16 3 28 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -MARK4 UCSF GRCh37 19 45769492 45769492 + missense_variant Missense_Mutation SNP G G T NOVEL P24_Pri Untested WXS Illumina HiSeq 130 53 207 0 ENST00000262891.4:c.502G>T p.Ala168Ser p.A168S ENST00000262891 NM_001199867.1 168 Gct/Tct 0 -MTUS1 UCSF GRCh37 8 17504501 17504501 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Pri Untested WXS Illumina HiSeq 162 48 269 0 ENST00000262102.6:c.3589G>A p.Ala1197Thr p.A1197T ENST00000262102 NM_001001924.2 1197 Gca/Aca 0 -TMEM55B UCSF GRCh37 14 20927400 20927400 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Pri Untested WXS Illumina HiSeq 35 18 71 0 ENST00000250489.4:c.655G>C p.Gly219Arg p.G219R ENST00000250489 219 Ggc/Cgc 0 -TP53 UCSF GRCh37 17 7576858 7576858 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P24_Pri Untested WXS Illumina HiSeq 117 0 ENST00000269305.4:c.988delC p.Leu330PhefsTer15 p.L330Ffs*15 ENST00000269305 NM_001126112.2 330 Ctt/tt 0 -UNC5C UCSF GRCh37 4 96123949 96123949 + missense_variant Missense_Mutation SNP A A T NOVEL P24_Pri Untested WXS Illumina HiSeq 52 16 57 0 ENST00000453304.1:c.2069T>A p.Leu690Gln p.L690Q ENST00000453304 NM_003728.3 690 cTg/cAg 0 -VGLL1 UCSF GRCh37 X 135630884 135630884 + synonymous_variant Silent SNP G G A NOVEL P24_Pri Untested WXS Illumina HiSeq 168 19 207 0 ENST00000370634.3:c.351G>A p.Pro117= p.P117= ENST00000370634 NM_016267.3 117 ccG/ccA 0 -ABHD11 UCSF GRCh37 7 73153014 73153014 + synonymous_variant Silent SNP G G T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 150 20 148 0 ENST00000222800.3:c.114C>A p.Pro38= p.P38= ENST00000222800 NM_148912.2 38 ccC/ccA 0 -AKAP3 UCSF GRCh37 12 4736308 4736308 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec1 Untested WXS Illumina HiSeq 238 36 211 1 ENST00000228850.1:c.1760A>G p.Lys587Arg p.K587R ENST00000228850 587 aAg/aGg 0 -ASB2 UCSF GRCh37 14 94423111 94423111 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 27 5 24 0 ENST00000315988.4:c.167+1G>A p.X56_splice ENST00000315988 NM_016150.4 0 -ASPM UCSF GRCh37 1 197071895 197071895 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec1 Untested WXS Illumina HiSeq 398 48 445 0 ENST00000367409.4:c.6486G>C p.Lys2162Asn p.K2162N ENST00000367409 NM_018136.4 2162 aaG/aaC 0 -ATRX UCSF GRCh37 X 76939340 76939343 + frameshift_variant Frame_Shift_Del DEL CTAC CTAC - NOVEL P24_Rec1 Untested WXS Illumina HiSeq 30 0 ENST00000373344.5:c.1405_1408delGTAG p.Val469IlefsTer44 p.V469Ifs*44 ENST00000373344 NM_000489.3 469 GTAGat/at 0 -BBS7 UCSF GRCh37 4 122754493 122754493 + missense_variant Missense_Mutation SNP C C A NOVEL P24_Rec1 Untested WXS Illumina HiSeq 80 12 108 0 ENST00000264499.4:c.1569G>T p.Trp523Cys p.W523C ENST00000264499 NM_176824.2 523 tgG/tgT 0 -C4A UCSF GRCh37 6 31996966 31996966 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.041,1000g2011may_all_0.0752,snp132_rs17855807 P24_Rec1 Untested WXS Illumina HiSeq 30 5 41 0 ENST00000435363.2:c.3527G>A p.Ser1176Asn p.S1176N ENST00000435363 NM_001002029.3 1176 aGc/aAc 0 -DROSHA UCSF GRCh37 5 31435970 31435970 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 69 11 67 0 ENST00000344624.3:c.2944G>A p.Val982Ile p.V982I ENST00000344624 982 Gtc/Atc 0 -GLCE UCSF GRCh37 15 69560951 69560951 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P24_Rec1 Untested WXS Illumina HiSeq 11 0 ENST00000261858.2:c.1222del p.Ala408LeufsTer5 p.A408Lfs*5 ENST00000261858 NM_015554.1 408 Gct/ct 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 27 4 28 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KRT6B UCSF GRCh37 12 52843581 52843581 + synonymous_variant Silent SNP A A G snp132_rs3194297 P24_Rec1 Untested WXS Illumina HiSeq 10 5 12 0 ENST00000252252.3:c.873T>C p.Leu291= p.L291= ENST00000252252 NM_005555.3 291 ctT/ctC 0 -MNS1 UCSF GRCh37 15 56736723 56736723 + frameshift_variant Frame_Shift_Del DEL T T - 1000g2010nov_all P24_Rec1 Untested WXS Illumina HiSeq 6 0 ENST00000260453.3:c.605del p.Lys202SerfsTer9 p.K202Sfs*9 ENST00000260453 NM_018365.2 202 aAg/ag 0 -MS4A6E UCSF GRCh37 11 60105330 60105330 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0042 P24_Rec1 Untested WXS Illumina HiSeq 157 18 193 0 ENST00000300182.4:c.264C>T p.Asp88= p.D88= ENST00000300182 NM_139249.2 88 gaC/gaT 0 -MTUS1 UCSF GRCh37 8 17504501 17504501 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 257 49 269 0 ENST00000262102.6:c.3589G>A p.Ala1197Thr p.A1197T ENST00000262102 NM_001001924.2 1197 Gca/Aca 0 -PREX1 UCSF GRCh37 20 47274678 47274678 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec1 Untested WXS Illumina HiSeq 733 84 686 0 ENST00000371941.3:c.1970C>T p.Ala657Val p.A657V ENST00000371941 NM_020820.3 657 gCt/gTt 0 -PRPH UCSF GRCh37 12 49690754 49690754 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 69 8 36 0 ENST00000257860.4:c.785C>T p.Thr262Met p.T262M ENST00000257860 NM_006262.3 262 aCg/aTg 0 -RC3H1 UCSF GRCh37 1 173933175 173933175 + synonymous_variant Silent SNP C C T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 80 9 76 0 ENST00000258349.4:c.1767G>A p.Thr589= p.T589= ENST00000258349 NM_172071.2 589 acG/acA 0 -SIGLEC5 UCSF GRCh37 19 52132668 52132668 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.008,1000g2011may_all_0.0309,snp132_rs1807124 P24_Rec1 Untested WXS Illumina HiSeq 23 3 17 0 ENST00000534261.2:c.643A>G p.Met215Val p.M215V ENST00000534261 215 Atg/Gtg 0 -TP53 UCSF GRCh37 17 7576858 7576858 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P24_Rec1 Untested WXS Illumina HiSeq 25 0 ENST00000269305.4:c.988delC p.Leu330PhefsTer15 p.L330Ffs*15 ENST00000269305 NM_001126112.2 330 Ctt/tt 0 -TRRAP UCSF GRCh37 7 98608691 98608694 + frameshift_variant Frame_Shift_Del DEL TCAA TCAA - NOVEL P24_Rec1 Untested WXS Illumina HiSeq 10 0 ENST00000359863.4:c.10913_10916del p.Leu3638ArgfsTer40 p.L3638Rfs*40 ENST00000359863 NM_001244580.1 3638 cTCAAg/cg 0 -TSKS UCSF GRCh37 19 50265271 50265275 + frameshift_variant Frame_Shift_Del DEL GTGAT GTGAT - NOVEL P24_Rec1 Untested WXS Illumina HiSeq 8 0 ENST00000246801.3:c.385_389del p.Ile129GlyfsTer28 p.I129Gfs*28 ENST00000246801 NM_021733.1 129 ATCACg/g 0 -VGLL1 UCSF GRCh37 X 135630884 135630884 + synonymous_variant Silent SNP G G A NOVEL P24_Rec1 Untested WXS Illumina HiSeq 187 43 207 0 ENST00000370634.3:c.351G>A p.Pro117= p.P117= ENST00000370634 NM_016267.3 117 ccG/ccA 0 -ZNF185 UCSF GRCh37 X 152083371 152083371 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec1 Untested WXS Illumina HiSeq 26 7 17 0 ENST00000370268.4:c.152G>A p.Arg51His p.R51H ENST00000370268 51 cGc/cAc 0 -ZNF286B UCSF GRCh37 17 18565409 18565409 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.010,snp132_rs2530065 P24_Rec1 Untested WXS Illumina HiSeq 20 4 29 1 ENST00000545289.1:c.1410T>C p.Ser470= p.S470= ENST00000545289 NM_001145045.1 470 agT/agC 0 -ZNF324 UCSF GRCh37 19 58982237 58982237 + synonymous_variant Silent SNP G G T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 140 16 124 0 ENST00000196482.3:c.378G>T p.Arg126= p.R126= ENST00000196482 NM_014347.2 126 cgG/cgT 0 -A4GALT UCSF GRCh37 22 43089120 43089120 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 203 26 300 0 ENST00000249005.2:c.838C>T p.Pro280Ser p.P280S ENST00000249005 NM_017436.4 280 Ccc/Tcc 0 -AACS UCSF GRCh37 12 125626687 125626687 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 9 60 0 ENST00000316519.6:c.1931C>T p.Ala644Val p.A644V ENST00000316519 NM_023928.3 644 gCt/gTt 0 -AACS UCSF GRCh37 12 125561117 125561117 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 3 37 0 ENST00000316519.6:c.318G>A p.Leu106= p.L106= ENST00000316519 NM_023928.3 106 ctG/ctA 0 -AASS UCSF GRCh37 7 121755269 121755269 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 191 22 205 0 ENST00000393376.1:c.902C>T p.Pro301Leu p.P301L ENST00000393376 301 cCc/cTc 0 -ABCA10 UCSF GRCh37 17 67190083 67190083 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 77 404 0 ENST00000269081.4:c.1393G>A p.Glu465Lys p.E465K ENST00000269081 NM_080282.3 465 Gaa/Aaa 0 -ABCA13 UCSF GRCh37 7 48559782 48559782 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 87 275 0 ENST00000435803.1:c.13943C>T p.Pro4648Leu p.P4648L ENST00000435803 NM_152701.3 4648 cCc/cTc 0 -ABCA2 UCSF GRCh37 9 139905759 139905759 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 20 164 0 ENST00000341511.6:c.5802C>T p.Asp1934= p.D1934= ENST00000341511 NM_212533.2 1934 gaC/gaT 0 -ABCA4 UCSF GRCh37 1 94546205 94546205 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 10 99 0 ENST00000370225.3:c.928G>A p.Glu310Lys p.E310K ENST00000370225 NM_000350.2 310 Gag/Aag 0 -ABCA6 UCSF GRCh37 17 67102285 67102285 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 9 94 0 ENST00000284425.2:c.2457C>T p.Ser819= p.S819= ENST00000284425 NM_080284.2 819 tcC/tcT 0 -ABCB1 UCSF GRCh37 7 87160729 87160729 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 20 192 0 ENST00000265724.3:c.2566C>T p.Gln856Ter p.Q856* ENST00000265724 NM_000927.4 856 Caa/Taa 0 -ABCB10 UCSF GRCh37 1 229654102 229654102 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 20 184 0 ENST00000344517.4:c.2041G>A p.Asp681Asn p.D681N ENST00000344517 NM_012089.2 681 Gat/Aat 0 -ABCB11 UCSF GRCh37 2 169833173 169833173 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 8 113 0 ENST00000263817.6:c.1222G>A p.Glu408Lys p.E408K ENST00000263817 NM_003742.2 408 Gaa/Aaa 0 -ABCB11 UCSF GRCh37 2 169788987 169788987 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 11 61 0 ENST00000263817.6:c.3113C>T p.Thr1038Ile p.T1038I ENST00000263817 NM_003742.2 1038 aCc/aTc 0 -ABCB11 UCSF GRCh37 2 169792807 169792807 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 12 78 0 ENST00000263817.6:c.2747C>T p.Ala916Val p.A916V ENST00000263817 NM_003742.2 916 gCc/gTc 0 -ABCB4 UCSF GRCh37 7 87049328 87049328 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 34 247 0 ENST00000265723.4:c.2380G>A p.Ala794Thr p.A794T ENST00000265723 NM_000443.3 794 Gca/Aca 0 -ABCB5 UCSF GRCh37 7 20766690 20766690 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 3 37 0 ENST00000404938.2:c.2653C>T p.Arg885Cys p.R885C ENST00000404938 NM_001163941.1 885 Cgt/Tgt 0 -ABCC4 UCSF GRCh37 13 95696034 95696034 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 10 88 0 ENST00000376887.4:c.3637G>A p.Glu1213Lys p.E1213K ENST00000376887 NM_005845.3 1213 Gag/Aag 0 -ABCC6 UCSF GRCh37 16 16284056 16284056 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 5 47 0 ENST00000205557.7:c.1600G>A p.Val534Met p.V534M ENST00000205557 NM_001171.5 534 Gtg/Atg 0 -ABCC8 UCSF GRCh37 11 17449921 17449921 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 16 149 0 ENST00000389817.3:c.1955C>T p.Ala652Val p.A652V ENST00000389817 652 gCc/gTc 0 -ABCD1 UCSF GRCh37 X 153002673 153002673 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 5 40 0 ENST00000218104.3:c.1456G>A p.Gly486Arg p.G486R ENST00000218104 NM_000033.3 486 Gga/Aga 0 -ABCD2 UCSF GRCh37 12 40012872 40012872 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0042,snp132_rs35217341 P24_Rec2 Untested WXS Illumina HiSeq 225 31 263 0 ENST00000308666.3:c.546C>T p.His182= p.H182= ENST00000308666 NM_005164.3 182 caC/caT 0 -ABCD4 UCSF GRCh37 14 74761851 74761851 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 211 26 309 0 ENST00000356924.4:c.719G>A p.Arg240Lys p.R240K ENST00000356924 NM_005050.3 240 aGa/aAa 0 -ABCF1 UCSF GRCh37 6 30547723 30547723 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 3 25 0 ENST00000326195.8:c.505C>T p.Gln169Ter p.Q169* ENST00000326195 NM_001025091.1 169 Cag/Tag 0 -ABCF1 UCSF GRCh37 6 30550959 30550959 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 15 123 0 ENST00000326195.8:c.909C>T p.Asp303= p.D303= ENST00000326195 NM_001025091.1 303 gaC/gaT 0 -ABCF1 UCSF GRCh37 6 30553437 30553437 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 9 106 0 ENST00000326195.8:c.1578C>T p.Leu526= p.L526= ENST00000326195 NM_001025091.1 526 ctC/ctT 0 -ABCF3 UCSF GRCh37 3 183905677 183905677 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 10 85 0 ENST00000429586.2:c.475G>A p.Ala159Thr p.A159T ENST00000429586 NM_018358.2 159 Gca/Aca 0 -ABCF3 UCSF GRCh37 3 183910922 183910922 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 18 136 0 ENST00000429586.2:c.1783G>A p.Gly595Ser p.G595S ENST00000429586 NM_018358.2 595 Ggt/Agt 0 -ABCG8 UCSF GRCh37 2 44079759 44079759 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 220 27 318 0 ENST00000272286.2:c.716C>T p.Pro239Leu p.P239L ENST00000272286 NM_022437.2 239 cCc/cTc 0 -ABHD4 UCSF GRCh37 14 23072957 23072957 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 12 89 0 ENST00000428304.2:c.613G>A p.Ala205Thr p.A205T ENST00000428304 NM_022060.2 205 Gct/Act 0 -ABI3BP UCSF GRCh37 3 100568891 100568891 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 18 124 0 ENST00000284322.5:c.1373C>T p.Pro458Leu p.P458L ENST00000284322 NM_015429.3 458 cCt/cTt 0 -ABL1 UCSF GRCh37 9 133738375 133738375 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 6 47 0 ENST00000318560.5:c.775G>A p.Gly259Ser p.G259S ENST00000318560 NM_005157.4 259 Ggc/Agc 0 -ABRA UCSF GRCh37 8 107781887 107781887 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 73 249 0 ENST00000311955.3:c.532G>A p.Glu178Lys p.E178K ENST00000311955 NM_139166.4 178 Gag/Aag 0 -ACACA UCSF GRCh37 17 35518718 35518718 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 8 51 0 ENST00000353139.5:c.5326G>A p.Val1776Ile p.V1776I ENST00000353139 NM_198834.1 1776 Gta/Ata 0 -ACACB UCSF GRCh37 12 109623490 109623490 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 15 171 0 ENST00000338432.7:c.1925C>T p.Pro642Leu p.P642L ENST00000338432 642 cCc/cTc 0 -ACACB UCSF GRCh37 12 109629491 109629491 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 21 196 0 ENST00000338432.7:c.2218C>T p.Leu740Phe p.L740F ENST00000338432 740 Ctc/Ttc 0 -ACAD11 UCSF GRCh37 3 132360879 132360879 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 37 268 0 ENST00000264990.6:c.474C>T p.Ser158= p.S158= ENST00000264990 NM_032169.4 158 tcC/tcT 0 -ACAP1 UCSF GRCh37 17 7252391 7252391 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 21 154 0 ENST00000158762.3:c.1756C>T p.Pro586Ser p.P586S ENST00000158762 NM_014716.3 586 Ccc/Tcc 0 -ACBD6 UCSF GRCh37 1 180471299 180471299 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 273 43 366 0 ENST00000367595.3:c.103G>A p.Glu35Lys p.E35K ENST00000367595 NM_032360.3 35 Gag/Aag 0 -ACCN2 UCSF GRCh37 12 50474479 50474479 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 17 163 0 ENST00000447966.2:c.1297+107C>T *433* ENST00000447966 NM_001095.3 0 -ACE UCSF GRCh37 17 61557699 61557699 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 12 47 0 ENST00000290866.4:c.657C>T p.Gly219= p.G219= ENST00000290866 NM_000789.3 219 ggC/ggT 0 -ACSBG1 UCSF GRCh37 15 78526734 78526734 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 31 214 0 ENST00000258873.4:c.110C>T p.Thr37Ile p.T37I ENST00000258873 NM_001199377.1 37 aCc/aTc 0 -ACSS2 UCSF GRCh37 20 33470605 33470605 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 6 75 0 ENST00000360596.2:c.187G>A p.Gly63Arg p.G63R ENST00000360596 NM_018677.3 63 Gga/Aga 0 -ACSS2 UCSF GRCh37 20 33507237 33507237 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 29 178 0 ENST00000360596.2:c.835-1G>A p.X279_splice ENST00000360596 NM_018677.3 0 -ACTA1 UCSF GRCh37 1 229568828 229568828 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 5 48 0 ENST00000366684.3:c.35G>A p.Cys12Tyr p.C12Y ENST00000366684 NM_001100.3 12 tGc/tAc 0 -ACTB UCSF GRCh37 7 5567397 5567397 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 3 9 0 ENST00000331789.5:c.1110C>T p.Val370= p.V370= ENST00000331789 NM_001101.3 370 gtC/gtT 0 -ACTL7B UCSF GRCh37 9 111616998 111616998 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 19 163 0 ENST00000374667.3:c.1213G>A p.Glu405Lys p.E405K ENST00000374667 NM_006686.3 405 Gag/Aag 0 -ACTL7B UCSF GRCh37 9 111617665 111617665 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 204 28 257 0 ENST00000374667.3:c.546G>A p.Ser182= p.S182= ENST00000374667 NM_006686.3 182 tcG/tcA 0 -ACTL8 UCSF GRCh37 1 18152819 18152819 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 173 33 229 0 ENST00000375406.1:c.906C>T p.Thr302= p.T302= ENST00000375406 NM_030812.2 302 acC/acT 0 -ACTN4 UCSF GRCh37 19 39214964 39214964 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 100 23 126 0 ENST00000252699.2:c.1860C>T p.Asn620= p.N620= ENST00000252699 NM_004924.4 620 aaC/aaT 0 -ACTR5 UCSF GRCh37 20 37380900 37380900 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 9 60 0 ENST00000243903.4:c.732G>A p.Glu244= p.E244= ENST00000243903 NM_024855.3 244 gaG/gaA 0 -ACVR1B UCSF GRCh37 12 52387891 52387891 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 10 52 0 ENST00000257963.4:c.1515C>T p.Ile505= p.I505= ENST00000257963 NM_020328.3 505 atC/atT 0 -ADAM12 UCSF GRCh37 10 127753543 127753543 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 5 38 0 ENST00000368679.4:c.1450G>A p.Asp484Asn p.D484N ENST00000368679 NM_003474.4 484 Gac/Aac 0 -ADAM12 UCSF GRCh37 10 127760187 127760187 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 192 50 445 0 ENST00000368679.4:c.1191G>A p.Arg397= p.R397= ENST00000368679 NM_003474.4 397 agG/agA 0 -ADAM17 UCSF GRCh37 2 9630458 9630458 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 58 172 0 ENST00000310823.3:c.2323G>A p.Asp775Asn p.D775N ENST00000310823 NM_003183.4 775 Gat/Aat 0 -ADAM22 UCSF GRCh37 7 87760657 87760657 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 192 33 300 0 ENST00000265727.7:c.899C>T p.Ala300Val p.A300V ENST00000265727 300 gCc/gTc 0 -ADAM9 UCSF GRCh37 8 38913251 38913251 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 37 177 0 ENST00000487273.2:c.1551C>T p.Cys517= p.C517= ENST00000487273 NM_003816.2 517 tgC/tgT 0 -ADAMTS1 UCSF GRCh37 21 28217227 28217227 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 27 189 0 ENST00000284984.3:c.47G>A p.Ser16Asn p.S16N ENST00000284984 NM_006988.3 16 aGc/aAc 0 -ADAMTS13 UCSF GRCh37 9 136310022 136310022 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 36 108 0 ENST00000371929.3:c.2459G>A p.Gly820Asp p.G820D ENST00000371929 NM_139025.4 820 gGt/gAt 0 -ADAMTS13 UCSF GRCh37 9 136314999 136314999 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 30 0 ENST00000371929.3:c.2957G>A p.Gly986Asp p.G986D ENST00000371929 NM_139025.4 986 gGt/gAt 0 -ADAMTS18 UCSF GRCh37 16 77396097 77396097 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 10 76 0 ENST00000282849.5:c.1121C>T p.Ala374Val p.A374V ENST00000282849 NM_199355.2 374 gCc/gTc 0 -ADAMTS19 UCSF GRCh37 5 128983457 128983457 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 22 215 0 ENST00000274487.4:c.1855-1G>A p.X619_splice ENST00000274487 NM_133638.3 0 -ADAMTS5 UCSF GRCh37 21 28296430 28296430 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 391 60 490 0 ENST00000284987.5:c.2735G>A p.Gly912Glu p.G912E ENST00000284987 NM_007038.3 912 gGa/gAa 0 -ADAMTS6 UCSF GRCh37 5 64766794 64766794 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 188 38 277 0 ENST00000381055.3:c.273C>T p.Ala91= p.A91= ENST00000381055 NM_197941.2 91 gcC/gcT 0 -ADCK2 UCSF GRCh37 7 140373796 140373796 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 35 207 0 ENST00000072869.4:c.666C>T p.Ala222= p.A222= ENST00000072869 NM_052853.3 222 gcC/gcT 0 -ADCY10 UCSF GRCh37 1 167805696 167805696 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 9 84 0 ENST00000367851.4:c.3160C>T p.Pro1054Ser p.P1054S ENST00000367851 NM_018417.4 1054 Cct/Tct 0 -ADCY10 UCSF GRCh37 1 167852699 167852699 + synonymous_variant Silent SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 33 135 0 ENST00000367851.4:c.996C>A p.Ile332= p.I332= ENST00000367851 NM_018417.4 332 atC/atA 0 -ADCY8 UCSF GRCh37 8 132052082 132052082 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 21 101 0 ENST00000286355.5:c.498G>A p.Leu166= p.L166= ENST00000286355 NM_001115.2 166 ttG/ttA 0 -ADD2 UCSF GRCh37 2 70900457 70900457 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 18 150 0 ENST00000264436.4:c.1742-319G>A *581* ENST00000264436 NM_001617.3 0 -ADRBK1 UCSF GRCh37 11 67050605 67050605 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 173 143 404 0 ENST00000308595.5:c.1234G>A p.Glu412Lys p.E412K ENST00000308595 NM_001619.3 412 Gag/Aag 0 -ADRBK1 UCSF GRCh37 11 67049810 67049810 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 21 128 0 ENST00000308595.5:c.1026C>T p.Phe342= p.F342= ENST00000308595 NM_001619.3 342 ttC/ttT 0 -AEN UCSF GRCh37 15 89172585 89172585 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 4 40 0 ENST00000332810.3:c.669G>A p.Glu223= p.E223= ENST00000332810 NM_022767.3 223 gaG/gaA 0 -AFAP1 UCSF GRCh37 4 7802206 7802206 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 27 255 0 ENST00000358461.2:c.1229G>A p.Arg410Gln p.R410Q ENST00000358461 NM_198595.2 410 cGg/cAg 0 -AFAP1 UCSF GRCh37 4 7774616 7774616 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 228 43 320 0 ENST00000358461.2:c.1932G>A p.Lys644= p.K644= ENST00000358461 NM_198595.2 644 aaG/aaA 0 -AFAP1L2 UCSF GRCh37 10 116064684 116064684 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 4 45 0 ENST00000304129.4:c.1078C>T p.Leu360= p.L360= ENST00000304129 NM_001287824.1 360 Ctg/Ttg 0 -AFF3 UCSF GRCh37 2 100203737 100203737 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 21 197 0 ENST00000409236.2:c.2470G>A p.Asp824Asn p.D824N ENST00000409236 824 Gac/Aac 0 -AGER UCSF GRCh37 6 32151714 32151714 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 26 192 0 ENST00000375076.4:c.103G>A p.Val35Met p.V35M ENST00000375076 NM_001206929.1 35 Gtg/Atg 0 -AGFG2 UCSF GRCh37 7 100159897 100159897 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.0012 P24_Rec2 Untested WXS Illumina HiSeq 51 9 85 0 ENST00000300176.4:c.893C>T p.Thr298Ile p.T298I ENST00000300176 NM_006076.4 298 aCt/aTt 0 -AGK UCSF GRCh37 7 141349127 141349127 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 281 37 294 0 ENST00000355413.4:c.1040C>T p.Thr347Ile p.T347I ENST00000355413 NM_018238.3 347 aCt/aTt 0 -AGL UCSF GRCh37 1 100335995 100335995 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 31 263 0 ENST00000294724.4:c.704C>T p.Ala235Val p.A235V ENST00000294724 NM_000028.2 235 gCc/gTc 0 -AHNAK2 UCSF GRCh37 14 105404793 105404793 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 23 198 0 ENST00000333244.5:c.16995C>T p.Ser5665= p.S5665= ENST00000333244 NM_138420.2 5665 tcC/tcT 0 -AIF1 UCSF GRCh37 6 31583111 31583111 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 23 72 0 ENST00000376059.3:c.5G>A p.Ser2Asn p.S2N ENST00000376059 NM_001623.3 2 aGc/aAc 0 -AIM1L UCSF GRCh37 1 26670384 26670384 + 5_prime_UTR_variant 5'UTR SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 15 159 0 ENST00000308182.5:c.-371C>T *124* ENST00000308182 0 -AIM2 UCSF GRCh37 1 159036072 159036072 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 22 170 0 ENST00000368130.4:c.444G>A p.Gly148= p.G148= ENST00000368130 NM_004833.1 148 ggG/ggA 0 -AK5 UCSF GRCh37 1 77752629 77752629 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 5 68 0 ENST00000354567.2:c.64C>T p.Leu22Phe p.L22F ENST00000354567 NM_174858.2 22 Ctt/Ttt 0 -AKAP13 UCSF GRCh37 15 86123161 86123161 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 24 221 0 ENST00000394518.2:c.1862C>T p.Ala621Val p.A621V ENST00000394518 NM_007200.4 621 gCc/gTc 0 -AKAP3 UCSF GRCh37 12 4736308 4736308 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 120 211 1 ENST00000228850.1:c.1760A>G p.Lys587Arg p.K587R ENST00000228850 587 aAg/aGg 0 -AKAP4 UCSF GRCh37 X 49958781 49958781 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 27 152 0 ENST00000358526.2:c.583C>T p.Pro195Ser p.P195S ENST00000358526 NM_003886.2 195 Cca/Tca 0 -AKAP5 UCSF GRCh37 14 64935379 64935379 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 36 350 0 ENST00000320636.5:c.267G>A p.Arg89= p.R89= ENST00000320636 89 agG/agA 0 -AKAP6 UCSF GRCh37 14 33046377 33046377 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 14 103 0 ENST00000280979.4:c.2398G>A p.Glu800Lys p.E800K ENST00000280979 NM_004274.4 800 Gaa/Aaa 0 -AKAP8 UCSF GRCh37 19 15479045 15479045 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 725 86 656 0 ENST00000269701.2:c.1160+1G>A p.X387_splice ENST00000269701 NM_005858.3 0 -ALAS1 UCSF GRCh37 3 52240740 52240740 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 283 37 411 0 ENST00000310271.2:c.1138G>A p.Ala380Thr p.A380T ENST00000310271 NM_199166.2 380 Gca/Aca 0 -ALDH1L1 UCSF GRCh37 3 125833449 125833449 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 18 152 0 ENST00000393434.2:c.2033C>T p.Ser678Leu p.S678L ENST00000393434 NM_012190.3 678 tCa/tTa 0 -ALDH1L1 UCSF GRCh37 3 125879707 125879707 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 13 72 0 ENST00000393434.2:c.116C>T p.Ala39Val p.A39V ENST00000393434 NM_012190.3 39 gCc/gTc 0 -ALDH6A1 UCSF GRCh37 14 74531550 74531550 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 132 27 247 0 ENST00000553458.1:c.1478G>A p.Gly493Glu p.G493E ENST00000553458 NM_001278593.1 493 gGa/gAa 0 -ALG2 UCSF GRCh37 9 101980970 101980970 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 6 74 0 ENST00000476832.1:c.497C>T p.Thr166Ile p.T166I ENST00000476832 NM_033087.3 166 aCc/aTc 0 -ALKBH2 UCSF GRCh37 12 109526108 109526108 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 12 114 0 ENST00000343075.3:c.689C>T p.Thr230Ile p.T230I ENST00000343075 NM_001001655.2 230 aCc/aTc 0 -ALLC UCSF GRCh37 2 3749131 3749131 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 8 66 0 ENST00000252505.3:c.880G>A p.Gly294Arg p.G294R ENST00000252505 NM_018436.3 294 Ggg/Agg 0 -ALMS1 UCSF GRCh37 2 73676891 73676891 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 443 76 650 0 ENST00000264448.6:c.3234C>T p.Phe1078= p.F1078= ENST00000264448 NM_015120.4 1078 ttC/ttT 0 -ALMS1 UCSF GRCh37 2 73800038 73800038 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 12 118 0 ENST00000264448.6:c.11031G>A p.Arg3677= p.R3677= ENST00000264448 NM_015120.4 3677 cgG/cgA 0 -ALPI UCSF GRCh37 2 233321741 233321741 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 47 0 ENST00000295463.3:c.433G>A p.Gly145Ser p.G145S ENST00000295463 NM_001631.3 145 Ggc/Agc 0 -ALPK1 UCSF GRCh37 4 113352584 113352584 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 289 45 482 0 ENST00000177648.9:c.1881G>A p.Glu627= p.E627= ENST00000177648 627 gaG/gaA 0 -ALPK2 UCSF GRCh37 18 56205132 56205132 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 282 47 354 0 ENST00000361673.3:c.2287G>A p.Asp763Asn p.D763N ENST00000361673 NM_052947.3 763 Gat/Aat 0 -ALPK2 UCSF GRCh37 18 56246191 56246191 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 209 122 444 0 ENST00000361673.3:c.1817C>T p.Thr606Ile p.T606I ENST00000361673 NM_052947.3 606 aCc/aTc 0 -ALPL UCSF GRCh37 1 21894608 21894608 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 41 144 0 ENST00000374832.1:c.660G>A p.Gly220= p.G220= ENST00000374832 220 ggG/ggA 0 -ALX4 UCSF GRCh37 11 44286642 44286642 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 12 80 0 ENST00000329255.3:c.998C>T p.Ser333Phe p.S333F ENST00000329255 NM_021926.3 333 tCc/tTc 0 -AMDHD1 UCSF GRCh37 12 96354252 96354252 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 26 303 0 ENST00000266736.2:c.664G>A p.Gly222Arg p.G222R ENST00000266736 NM_152435.2 222 Ggg/Agg 0 -AMHR2 UCSF GRCh37 12 53825207 53825207 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 603 97 843 0 ENST00000257863.4:c.1672G>A p.Gly558Ser p.G558S ENST00000257863 NM_001164690.1 558 Ggc/Agc 0 -AMPD2 UCSF GRCh37 1 110167963 110167963 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 248 53 320 0 ENST00000256578.3:c.292G>A p.Ala98Thr p.A98T ENST00000256578 NM_004037.7 98 Gcc/Acc 0 -ANGPTL5 UCSF GRCh37 11 101773398 101773398 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 17 228 0 ENST00000334289.3:c.494G>A p.Ser165Asn p.S165N ENST00000334289 NM_178127.4 165 aGt/aAt 0 -ANKAR UCSF GRCh37 2 190595295 190595295 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 12 115 0 ENST00000313581.4:c.3268C>T p.Leu1090= p.L1090= ENST00000313581 1090 Cta/Tta 0 -ANKHD1 UCSF GRCh37 5 139838875 139838875 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 8 97 0 ENST00000360839.2:c.1607C>T p.Ser536Phe p.S536F ENST00000360839 NM_017747.2 536 tCc/tTc 0 -ANKLE1 UCSF GRCh37 19 17394429 17394429 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 384 47 372 0 ENST00000394458.3:c.856G>A p.Ala286Thr p.A286T ENST00000394458 NM_001278444.1 286 Gct/Act 0 -ANKRD13D UCSF GRCh37 11 67059142 67059142 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 236 36 271 0 ENST00000308440.6:c.205G>A p.Val69Ile p.V69I ENST00000308440 69 Gta/Ata 0 -ANKRD40 UCSF GRCh37 17 48776819 48776819 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 12 61 0 ENST00000285243.6:c.719G>A p.Gly240Glu p.G240E ENST00000285243 NM_052855.3 240 gGa/gAa 0 -ANKRD44 UCSF GRCh37 2 197946370 197946370 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 3 33 0 ENST00000282272.8:c.1513C>T p.Leu505= p.L505= ENST00000282272 NM_001195144.1 505 Cta/Tta 0 -ANKS1B UCSF GRCh37 12 99548209 99548209 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 12 58 0 ENST00000547776.2:c.2420-36C>T *807* ENST00000547776 NM_152788.4 0 -ANKS3 UCSF GRCh37 16 4752160 4752160 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 10 48 0 ENST00000304283.4:c.952G>A p.Val318Ile p.V318I ENST00000304283 NM_133450.3 318 Gtc/Atc 0 -ANO2 UCSF GRCh37 12 5685114 5685114 + missense_variant Missense_Mutation SNP T T A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 280 73 228 0 ENST00000356134.5:c.2510A>T p.Asn837Ile p.N837I ENST00000356134 837 aAt/aTt 0 -ANTXR1 UCSF GRCh37 2 69330008 69330008 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 14 132 0 ENST00000303714.4:c.738C>T p.Phe246= p.F246= ENST00000303714 NM_032208.2 246 ttC/ttT 0 -ANTXR2 UCSF GRCh37 4 80992803 80992803 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 183 25 275 0 ENST00000307333.7:c.158G>A p.Gly53Glu p.G53E ENST00000307333 NM_001145794.1 53 gGg/gAg 0 -AOC3 UCSF GRCh37 17 41004671 41004671 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 209 29 329 0 ENST00000308423.2:c.1311C>T p.Gly437= p.G437= ENST00000308423 NM_003734.3 437 ggC/ggT 0 -AP3B1 UCSF GRCh37 5 77452093 77452093 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 229 30 388 0 ENST00000255194.6:c.1462G>A p.Asp488Asn p.D488N ENST00000255194 488 Gac/Aac 0 -AP3B2 UCSF GRCh37 15 83349459 83349459 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 43 210 0 ENST00000261722.3:c.820G>A p.Glu274Lys p.E274K ENST00000261722 NM_004644.4 274 Gag/Aag 0 -AP3D1 UCSF GRCh37 19 2115382 2115382 + missense_variant Missense_Mutation SNP C C T snp132_rs34098352 P24_Rec2 Untested WXS Illumina HiSeq 402 45 371 0 ENST00000345016.5:c.2185G>A p.Glu729Lys p.E729K ENST00000345016 NM_003938.6 729 Gag/Aag 0 -AP3D1 UCSF GRCh37 19 2110730 2110730 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 4 28 0 ENST00000345016.5:c.2965C>T p.Pro989Ser p.P989S ENST00000345016 NM_003938.6 989 Ccc/Tcc 0 -AP4B1 UCSF GRCh37 1 114438498 114438498 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 18 149 0 ENST00000256658.4:c.1673C>T p.Ser558Leu p.S558L ENST00000256658 NM_006594.3 558 tCa/tTa 0 -APBA1 UCSF GRCh37 9 72067119 72067119 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 189 23 258 0 ENST00000265381.4:c.1887G>A p.Lys629= p.K629= ENST00000265381 NM_001163.3 629 aaG/aaA 0 -APEH UCSF GRCh37 3 49713502 49713502 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 337 62 424 0 ENST00000296456.5:c.456C>T p.Cys152= p.C152= ENST00000296456 NM_001640.3 152 tgC/tgT 0 -APH1B UCSF GRCh37 15 63597957 63597957 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 275 39 393 0 ENST00000261879.5:c.751C>T p.Leu251Phe p.L251F ENST00000261879 NM_031301.3 251 Ctt/Ttt 0 -APITD1 UCSF GRCh37 1 10500457 10500457 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 8 93 0 ENST00000309048.3:c.263G>A p.Arg88Lys p.R88K ENST00000309048 NM_199294.2 88 aGg/aAg 0 -APLF UCSF GRCh37 2 68753356 68753356 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 15 106 0 ENST00000303795.4:c.786G>A p.Glu262= p.E262= ENST00000303795 NM_173545.2 262 gaG/gaA 0 -APLNR UCSF GRCh37 11 57003475 57003475 + missense_variant,NMD_transcript_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 200 42 273 0 ENST00000257254.3:c.1004C>T p.Ser335Phe p.S335F ENST00000257254 335 tCc/tTc 0 -APOA5 UCSF GRCh37 11 116660927 116660927 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 31 209 0 ENST00000227665.4:c.1018C>T p.Leu340= p.L340= ENST00000227665 340 Ctg/Ttg 0 -APOB UCSF GRCh37 2 21228815 21228815 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 270 51 391 0 ENST00000233242.1:c.10925G>A p.Gly3642Glu p.G3642E ENST00000233242 NM_000384.2 3642 gGg/gAg 0 -APOB UCSF GRCh37 2 21236226 21236226 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 45 171 1 ENST00000233242.1:c.4022C>T p.Thr1341Ile p.T1341I ENST00000233242 NM_000384.2 1341 aCc/aTc 0 -APOBEC3B UCSF GRCh37 22 39382097 39382097 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 10 93 0 ENST00000333467.3:c.454+1G>A p.X152_splice ENST00000333467 NM_004900.4 0 -APOD UCSF GRCh37 3 195295876 195295876 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 31 117 0 ENST00000343267.3:c.465C>T p.Leu155= p.L155= ENST00000343267 NM_001647.3 155 ctC/ctT 0 -APOH UCSF GRCh37 17 64210600 64210600 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 21 203 0 ENST00000205948.6:c.953G>A p.Gly318Asp p.G318D ENST00000205948 NM_000042.2 318 gGc/gAc 0 -APOL3 UCSF GRCh37 22 36537471 36537471 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 177 34 260 0 ENST00000349314.2:c.986C>T p.Thr329Ile p.T329I ENST00000349314 NM_145640.2 329 aCc/aTc 0 -APOL4 UCSF GRCh37 22 36587897 36587897 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 204 36 307 0 ENST00000352371.1:c.280G>A p.Asp94Asn p.D94N ENST00000352371 94 Gac/Aac 0 -APOL6 UCSF GRCh37 22 36055273 36055273 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 21 139 0 ENST00000409652.4:c.662C>T p.Ala221Val p.A221V ENST00000409652 NM_030641.3 221 gCc/gTc 0 -APPL1 UCSF GRCh37 3 57291453 57291453 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 20 188 0 ENST00000288266.3:c.1427G>A p.Gly476Asp p.G476D ENST00000288266 NM_012096.2 476 gGc/gAc 0 -AQP10 UCSF GRCh37 1 154295472 154295472 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 7 82 0 ENST00000324978.3:c.247C>T p.Pro83Ser p.P83S ENST00000324978 NM_080429.2 83 Cca/Tca 0 -ARAP3 UCSF GRCh37 5 141036200 141036200 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 17 122 0 ENST00000239440.4:c.3660C>T p.Ile1220= p.I1220= ENST00000239440 NM_022481.5 1220 atC/atT 0 -ARC UCSF GRCh37 8 143694825 143694825 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 21 252 0 ENST00000356613.2:c.808G>A p.Glu270Lys p.E270K ENST00000356613 NM_015193.4 270 Gag/Aag 0 -ARHGAP20 UCSF GRCh37 11 110477462 110477462 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 16 199 0 ENST00000260283.4:c.787C>T p.Pro263Ser p.P263S ENST00000260283 NM_020809.3 263 Cca/Tca 0 -ARHGAP28 UCSF GRCh37 18 6896535 6896535 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 10 120 0 ENST00000383472.4:c.1940C>T p.Ala647Val p.A647V ENST00000383472 647 gCt/gTt 0 -ARHGAP29 UCSF GRCh37 1 94645456 94645456 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 16 113 0 ENST00000260526.6:c.2305G>A p.Glu769Lys p.E769K ENST00000260526 NM_004815.3 769 Gag/Aag 0 -ARHGAP30 UCSF GRCh37 1 161021503 161021503 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 16 108 0 ENST00000368013.3:c.1021C>T p.Pro341Ser p.P341S ENST00000368013 NM_181720.2 341 Cca/Tca 0 -ARHGAP39 UCSF GRCh37 8 145773405 145773405 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 41 245 0 ENST00000276826.5:c.1065G>A p.Pro355= p.P355= ENST00000276826 355 ccG/ccA 0 -ARHGAP44 UCSF GRCh37 17 12887937 12887937 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 28 194 0 ENST00000379672.5:c.2029G>A p.Val677Ile p.V677I ENST00000379672 NM_014859.4 677 Gtc/Atc 0 -ARHGAP6 UCSF GRCh37 X 11157559 11157559 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 9 51 0 ENST00000337414.4:c.2349G>A p.Trp783Ter p.W783* ENST00000337414 NM_013427.2 783 tgG/tgA 0 -ARHGAP9 UCSF GRCh37 12 57871385 57871385 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 308 40 33 0 ENST00000393791.3:c.613C>T p.Pro205Ser p.P205S ENST00000393791 NM_032496.2 205 Ccc/Tcc 0 -ARHGEF16 UCSF GRCh37 1 3386008 3386008 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 12 111 0 ENST00000378378.4:c.873G>A p.Glu291= p.E291= ENST00000378378 NM_014448.3 291 gaG/gaA 0 -ARHGEF18 UCSF GRCh37 19 7516038 7516038 + missense_variant Missense_Mutation SNP A A T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 38 174 0 ENST00000359920.6:c.1177A>T p.Ile393Phe p.I393F ENST00000359920 NM_001130955.1 393 Att/Ttt 0 -ARHGEF2 UCSF GRCh37 1 155935512 155935512 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 4 42 0 ENST00000361247.4:c.380C>T p.Ser127Phe p.S127F ENST00000361247 NM_001162384.1 127 tCc/tTc 0 -ARHGEF26 UCSF GRCh37 3 153840604 153840604 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 12 67 0 ENST00000356448.4:c.823C>T p.Leu275Phe p.L275F ENST00000356448 NM_001251962.1 275 Ctc/Ttc 0 -ARHGEF33 UCSF GRCh37 2 39178263 39178263 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 187 23 245 0 ENST00000409978.1:c.1053+1G>A p.X351_splice ENST00000409978 0 -ARHGEF38 UCSF GRCh37 4 106588455 106588455 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 97 340 0 ENST00000420470.2:c.1859G>A p.Ser620Asn p.S620N ENST00000420470 NM_001242729.1 620 aGt/aAt 0 -ARHGEF7 UCSF GRCh37 13 111935647 111935647 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 8 50 0 ENST00000375741.2:c.1950G>A p.Trp650Ter p.W650* ENST00000375741 NM_145735.2 650 tgG/tgA 0 -ARID1B UCSF GRCh37 6 157527695 157527695 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 37 136 0 ENST00000350026.5:c.5381G>A p.Gly1794Glu p.G1794E ENST00000350026 NM_017519.2 1794 gGg/gAg 0 -ARMC2 UCSF GRCh37 6 109294624 109294624 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 16 175 0 ENST00000392644.4:c.2511G>A p.Trp837Ter p.W837* ENST00000392644 NM_032131.4 837 tgG/tgA 0 -ARMC2 UCSF GRCh37 6 109190146 109190146 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 12 111 0 ENST00000392644.4:c.411G>A p.Arg137= p.R137= ENST00000392644 NM_032131.4 137 agG/agA 0 -ARMC4 UCSF GRCh37 10 28151470 28151470 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 20 137 0 ENST00000305242.5:c.2692C>T p.Leu898= p.L898= ENST00000305242 NM_018076.2 898 Ctg/Ttg 0 -ARMC6 UCSF GRCh37 19 19153577 19153577 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 32 224 0 ENST00000392336.3:c.87G>A p.Lys29= p.K29= ENST00000392336 29 aaG/aaA 0 -ARMC8 UCSF GRCh37 3 138003305 138003305 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 24 228 0 ENST00000469044.1:c.1758G>A p.Gly586= p.G586= ENST00000469044 NM_001267041.1 586 ggG/ggA 0 -ARMCX2 UCSF GRCh37 X 100910957 100910957 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 32 149 0 ENST00000328766.5:c.1618G>A p.Asp540Asn p.D540N ENST00000328766 NM_014782.5 540 Gat/Aat 0 -ARNT UCSF GRCh37 1 150786699 150786699 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 27 232 0 ENST00000358595.5:c.1967C>T p.Ala656Val p.A656V ENST00000358595 NM_178427.2 656 gCt/gTt 0 -ARPP19 UCSF GRCh37 15 52849334 52849334 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 19 114 0 ENST00000249822.4:c.131G>A p.Gly44Glu p.G44E ENST00000249822 NM_006628.4 44 gGa/gAa 0 -ARPP21 UCSF GRCh37 3 35785374 35785374 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 18 185 0 ENST00000187397.4:c.1949C>T p.Thr650Ile p.T650I ENST00000187397 NM_016300.4 650 aCc/aTc 0 -ARRB1 UCSF GRCh37 11 74985189 74985189 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 12 99 0 ENST00000420843.2:c.843C>T p.Asn281= p.N281= ENST00000420843 NM_004041.4 281 aaC/aaT 0 -ARRDC2 UCSF GRCh37 19 18112378 18112378 + downstream_gene_variant 3'Flank SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 7 62 0 ENST00000222249 NM_002248.4 0 -ARSJ UCSF GRCh37 4 114899759 114899759 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 17 184 0 ENST00000315366.7:c.232C>T p.Leu78Phe p.L78F ENST00000315366 NM_024590.3 78 Ctc/Ttc 0 -ARX UCSF GRCh37 X 25031293 25031293 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 42 142 0 ENST00000379044.4:c.819C>T p.Ala273= p.A273= ENST00000379044 NM_139058.2 273 gcC/gcT 0 -ASAP1 UCSF GRCh37 8 131073167 131073167 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 38 164 0 ENST00000518721.1:c.2850C>T p.Pro950= p.P950= ENST00000518721 NM_001247996.1 950 ccC/ccT 0 -ASB10 UCSF GRCh37 7 150878373 150878373 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 208 30 199 0 ENST00000420175.2:c.757C>T p.Leu253= p.L253= ENST00000420175 253 Ctg/Ttg 0 -ASB16 UCSF GRCh37 17 42254374 42254374 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 3 29 0 ENST00000293414.1:c.838G>A p.Ala280Thr p.A280T ENST00000293414 NM_080863.4 280 Gcc/Acc 0 -ASH1L UCSF GRCh37 1 155451559 155451559 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 342 50 521 0 ENST00000368346.3:c.1102G>A p.Val368Ile p.V368I ENST00000368346 368 Gtt/Att 0 -ASH1L UCSF GRCh37 1 155448314 155448314 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 4 58 0 ENST00000368346.3:c.4347G>A p.Gln1449= p.Q1449= ENST00000368346 1449 caG/caA 0 -ASNSD1 UCSF GRCh37 2 190531191 190531191 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 161 30 250 0 ENST00000260952.4:c.333C>T p.Leu111= p.L111= ENST00000260952 NM_019048.2 111 ctC/ctT 0 -ASPG UCSF GRCh37 14 104569962 104569962 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 5 34 0 ENST00000551177.1:c.703G>A p.Glu235Lys p.E235K ENST00000551177 NM_001080464.2 235 Gag/Aag 0 -ASPH UCSF GRCh37 8 62438590 62438590 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 16 136 0 ENST00000379454.4:c.1846G>A p.Asp616Asn p.D616N ENST00000379454 NM_004318.3 616 Gat/Aat 0 -ASPM UCSF GRCh37 1 197071895 197071895 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 119 445 0 ENST00000367409.4:c.6486G>C p.Lys2162Asn p.K2162N ENST00000367409 NM_018136.4 2162 aaG/aaC 0 -ASTN2 UCSF GRCh37 9 119249637 119249637 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 3 41 0 ENST00000313400.4:c.3497+1G>A p.X1166_splice ENST00000313400 0 -ASTN2 UCSF GRCh37 9 119976908 119976908 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 16 143 0 ENST00000313400.4:c.744C>T p.Ala248= p.A248= ENST00000313400 248 gcC/gcT 0 -ASXL3 UCSF GRCh37 18 31324781 31324781 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 27 280 0 ENST00000269197.5:c.4969C>T p.Pro1657Ser p.P1657S ENST00000269197 NM_030632.1 1657 Ccc/Tcc 0 -ASXL3 UCSF GRCh37 18 31263528 31263528 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 18 128 0 ENST00000269197.5:c.875G>A p.Arg292Lys p.R292K ENST00000269197 NM_030632.1 292 aGg/aAg 0 -ATAD1 UCSF GRCh37 10 89552427 89552427 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 11 113 0 ENST00000308448.7:c.248C>T p.Pro83Leu p.P83L ENST00000308448 NM_032810.2 83 cCt/cTt 0 -ATAD2B UCSF GRCh37 2 23985174 23985174 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 344 53 428 0 ENST00000238789.5:c.3299G>A p.Gly1100Glu p.G1100E ENST00000238789 NM_001242338.1 1100 gGa/gAa 0 -ATF5 UCSF GRCh37 19 50436164 50436164 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 215 52 298 0 ENST00000423777.2:c.664G>A p.Ala222Thr p.A222T ENST00000423777 NM_001193646.1 222 Gct/Act 0 -ATP12A UCSF GRCh37 13 25266679 25266679 + missense_variant Missense_Mutation SNP G G A snp132_rs112162533 P24_Rec2 Untested WXS Illumina HiSeq 130 17 167 0 ENST00000381946.3:c.1181G>A p.Gly394Glu p.G394E ENST00000381946 394 gGg/gAg 0 -ATP1A1 UCSF GRCh37 1 116930849 116930849 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 17 0 ENST00000295598.5:c.488del p.Asn163ThrfsTer9 p.N163Tfs*9 ENST00000295598 NM_000701.7 162 Aaa/aa 0 -ATP1B2 UCSF GRCh37 17 7557516 7557516 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 293 44 330 0 ENST00000250111.4:c.493G>A p.Asp165Asn p.D165N ENST00000250111 NM_001678.3 165 Gac/Aac 0 -ATP5J2-PTCD1 UCSF GRCh37 7 99032499 99032499 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 11 109 0 ENST00000292478.4:c.367G>A p.Glu123Lys p.E123K ENST00000292478 NM_015545.3 123 Gaa/Aaa 0 -ATP6AP1 UCSF GRCh37 X 153662579 153662579 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 11 85 0 ENST00000369762.2:c.710C>T p.Ala237Val p.A237V ENST00000369762 NM_001183.4 237 gCc/gTc 0 -ATR UCSF GRCh37 3 142176554 142176554 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 235 37 351 0 ENST00000350721.4:c.7547C>T p.Thr2516Ile p.T2516I ENST00000350721 NM_001184.3 2516 aCt/aTt 0 -ATR UCSF GRCh37 3 142280101 142280101 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 163 24 274 0 ENST00000350721.4:c.1333C>T p.Pro445Ser p.P445S ENST00000350721 NM_001184.3 445 Cca/Tca 0 -ATRN UCSF GRCh37 20 3527970 3527970 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 13 150 0 ENST00000262919.5:c.777G>A p.Glu259= p.E259= ENST00000262919 NM_139321.2 259 gaG/gaA 0 -ATRNL1 UCSF GRCh37 10 116853739 116853739 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 56 150 0 ENST00000355044.3:c.230C>T p.Ser77Phe p.S77F ENST00000355044 NM_207303.2 77 tCc/tTc 0 -ATRX UCSF GRCh37 X 76939340 76939343 + frameshift_variant Frame_Shift_Del DEL CTAC CTAC - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 0 ENST00000373344.5:c.1405_1408delGTAG p.Val469IlefsTer44 p.V469Ifs*44 ENST00000373344 NM_000489.3 469 GTAGat/at 0 -ATXN10 UCSF GRCh37 22 46085607 46085607 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 10 4 26 0 ENST00000252934.5:c.132G>A p.Arg44= p.R44= ENST00000252934 NM_013236.3 44 agG/agA 0 -ATXN2 UCSF GRCh37 12 111956165 111956165 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 23 118 0 ENST00000377617.3:c.1533G>A p.Gln511= p.Q511= ENST00000377617 NM_002973.3 511 caG/caA 0 -ATXN7 UCSF GRCh37 3 63898902 63898902 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 192 35 291 0 ENST00000295900.6:c.394+1G>A p.X132_splice ENST00000295900 NM_000333.3 0 -AUTS2 UCSF GRCh37 7 70255005 70255005 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 17 120 0 ENST00000342771.4:c.2803C>T p.Gln935Ter p.Q935* ENST00000342771 NM_015570.2 935 Cag/Tag 0 -AXIN1 UCSF GRCh37 16 360045 360045 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 10 84 0 ENST00000262320.3:c.1044C>T p.Ile348= p.I348= ENST00000262320 NM_003502.3 348 atC/atT 0 -B3GNT2 UCSF GRCh37 2 62449935 62449935 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 136 18 207 0 ENST00000301998.4:c.580C>T p.Leu194Phe p.L194F ENST00000301998 NM_006577.5 194 Ctt/Ttt 0 -B3GNT3 UCSF GRCh37 19 17922609 17922609 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 266 32 251 0 ENST00000318683.6:c.797C>T p.Pro266Leu p.P266L ENST00000318683 NM_014256.3 266 cCc/cTc 0 -B4GALT2 UCSF GRCh37 1 44447495 44447495 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 264 42 332 0 ENST00000356836.6:c.448C>T p.Pro150Ser p.P150S ENST00000356836 NM_001005417.2 150 Ccc/Tcc 0 -B4GALT4 UCSF GRCh37 3 118948697 118948697 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 20 206 0 ENST00000359213.3:c.250C>T p.Leu84Phe p.L84F ENST00000359213 NM_212543.1 84 Ctc/Ttc 0 -B4GALT4 UCSF GRCh37 3 118942904 118942904 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 8 74 0 ENST00000359213.3:c.674+1G>A p.X225_splice ENST00000359213 NM_212543.1 0 -B4GALT6 UCSF GRCh37 18 29246326 29246326 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 235 41 356 0 ENST00000306851.5:c.125A>G p.Tyr42Cys p.Y42C ENST00000306851 NM_004775.3 42 tAt/tGt 0 -BAG5 UCSF GRCh37 14 104027253 104027253 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 25 264 0 ENST00000299204.4:c.249G>A p.Glu83= p.E83= ENST00000299204 NM_001015048.2 83 gaG/gaA 0 -BAIAP2 UCSF GRCh37 17 79089586 79089586 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 174 38 232 0 ENST00000321300.6:c.1552G>A p.Val518Ile p.V518I ENST00000321300 NM_001144888.1 518 Gtc/Atc 0 -BANF2 UCSF GRCh37 20 17716437 17716437 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 273 49 408 0 ENST00000246090.5:c.254G>A p.Trp85Ter p.W85* ENST00000246090 NM_178477.4 85 tGg/tAg 0 -BAZ2A UCSF GRCh37 12 56992689 56992689 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 18 144 0 ENST00000551812.1:c.5515G>A p.Asp1839Asn p.D1839N ENST00000551812 NM_013449.3 1839 Gat/Aat 0 -BBS9 UCSF GRCh37 7 33573761 33573761 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 310 43 332 0 ENST00000242067.6:c.2494G>A p.Ala832Thr p.A832T ENST00000242067 NM_198428.2 832 Gca/Aca 0 -BCHE UCSF GRCh37 3 165547469 165547469 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 372 55 471 0 ENST00000264381.3:c.1353C>T p.His451= p.H451= ENST00000264381 NM_000055.2 451 caC/caT 0 -BCKDHB UCSF GRCh37 6 80838912 80838912 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 18 131 0 ENST00000320393.6:c.309C>T p.Val103= p.V103= ENST00000320393 NM_183050.2 103 gtC/gtT 0 -BCL7A UCSF GRCh37 12 122481940 122481940 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 19 67 0 ENST00000261822.4:c.420G>A p.Lys140= p.K140= ENST00000261822 NM_001024808.1 140 aaG/aaA 0 -BCL9L UCSF GRCh37 11 118773773 118773773 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 9 66 0 ENST00000334801.3:c.760G>A p.Ala254Thr p.A254T ENST00000334801 NM_182557.2 254 Gca/Aca 0 -BDP1 UCSF GRCh37 5 70840967 70840967 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 17 3 28 0 ENST00000358731.4:c.6665G>A p.Gly2222Asp p.G2222D ENST00000358731 NM_018429.2 2222 gGt/gAt 0 -BEND7 UCSF GRCh37 10 13481494 13481494 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 23 156 0 ENST00000341083.3:c.1085C>T p.Ala362Val p.A362V ENST00000341083 NM_152751.2 362 gCt/gTt 0 -BEST1 UCSF GRCh37 11 61730178 61730178 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 350 53 540 0 ENST00000378043.4:c.1552G>A p.Glu518Lys p.E518K ENST00000378043 NM_004183.3 518 Gag/Aag 0 -BFAR UCSF GRCh37 16 14761652 14761652 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 34 175 0 ENST00000261658.2:c.1321G>A p.Glu441Lys p.E441K ENST00000261658 NM_016561.2 441 Gaa/Aaa 0 -BFSP2 UCSF GRCh37 3 133167362 133167362 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 8 51 0 ENST00000302334.2:c.602C>T p.Ala201Val p.A201V ENST00000302334 NM_003571.2 201 gCg/gTg 0 -BHLHE23 UCSF GRCh37 20 61637563 61637563 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 10 102 0 ENST00000370346.2:c.516G>A p.Gln172= p.Q172= ENST00000370346 NM_080606.3 172 caG/caA 0 -BIRC6 UCSF GRCh37 2 32656052 32656052 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 197 30 276 0 ENST00000421745.2:c.3142G>A p.Glu1048Lys p.E1048K ENST00000421745 NM_016252.3 1048 Gaa/Aaa 0 -BIRC6 UCSF GRCh37 2 32836611 32836611 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 8 60 0 ENST00000421745.2:c.14356G>A p.Val4786Ile p.V4786I ENST00000421745 NM_016252.3 4786 Gta/Ata 0 -BIRC6 UCSF GRCh37 2 32695362 32695362 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 17 229 0 ENST00000421745.2:c.6474G>A p.Arg2158= p.R2158= ENST00000421745 NM_016252.3 2158 agG/agA 0 -BLM UCSF GRCh37 15 91304351 91304351 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 167 22 217 0 ENST00000355112.3:c.1748C>T p.Ala583Val p.A583V ENST00000355112 NM_000057.2 583 gCc/gTc 0 -BMP5 UCSF GRCh37 6 55638867 55638867 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 10 75 0 ENST00000370830.3:c.1007C>T p.Ser336Phe p.S336F ENST00000370830 NM_021073.2 336 tCc/tTc 0 -BMP7 UCSF GRCh37 20 55841041 55841041 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 29 200 0 ENST00000395863.3:c.138C>T p.Leu46= p.L46= ENST00000395863 NM_001719.2 46 ctC/ctT 0 -BMPER UCSF GRCh37 7 34125541 34125541 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 266 92 296 0 ENST00000297161.2:c.1582G>A p.Val528Met p.V528M ENST00000297161 NM_133468.4 528 Gtg/Atg 0 -BNIPL UCSF GRCh37 1 151010133 151010133 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 11 68 0 ENST00000368931.3:c.132C>T p.Phe44= p.F44= ENST00000368931 NM_138278.3 44 ttC/ttT 0 -BOD1L UCSF GRCh37 4 13616314 13616314 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 17 205 0 ENST00000040738.5:c.680C>T p.Ala227Val p.A227V ENST00000040738 NM_148894.2 227 gCc/gTc 0 -BOD1L UCSF GRCh37 4 13597497 13597497 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 16 222 0 ENST00000040738.5:c.8091G>A p.Lys2697= p.K2697= ENST00000040738 NM_148894.2 2697 aaG/aaA 0 -BOLL UCSF GRCh37 2 198607882 198607882 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 8 60 0 ENST00000392296.4:c.731C>T p.Pro244Leu p.P244L ENST00000392296 NM_033030.5 244 cCt/cTt 0 -BRAP UCSF GRCh37 12 112087772 112087772 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 14 114 0 ENST00000419234.4:c.1386C>T p.Leu462= p.L462= ENST00000419234 NM_006768.3 462 ctC/ctT 0 -BRCA2 UCSF GRCh37 13 32921010 32921010 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 9 135 0 ENST00000380152.3:c.6984G>A p.Glu2328= p.E2328= ENST00000380152 2328 gaG/gaA 0 -BRD8 UCSF GRCh37 5 137497771 137497771 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 9 109 0 ENST00000254900.5:c.2152C>T p.Leu718Phe p.L718F ENST00000254900 NM_139199.1 718 Ctt/Ttt 0 -BRDT UCSF GRCh37 1 92470740 92470740 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 13 147 0 ENST00000362005.3:c.2659G>A p.Glu887Lys p.E887K ENST00000362005 NM_001242805.1 887 Gaa/Aaa 0 -BRE UCSF GRCh37 2 28460089 28460089 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 4 51 0 ENST00000342045.2:c.701C>T p.Ala234Val p.A234V ENST00000342045 NM_199194.2 234 gCt/gTt 0 -BRF1 UCSF GRCh37 14 105766903 105766903 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 11 50 0 ENST00000546474.1:c.64G>A p.Asp22Asn p.D22N ENST00000546474 NM_001519.3 22 Gac/Aac 0 -BRIP1 UCSF GRCh37 17 59761284 59761284 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 25 267 0 ENST00000259008.2:c.3123G>A p.Met1041Ile p.M1041I ENST00000259008 NM_032043.2 1041 atG/atA 0 -BRSK1 UCSF GRCh37 19 55798397 55798397 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 15 75 1 ENST00000309383.1:c.159C>T p.His53= p.H53= ENST00000309383 NM_032430.1 53 caC/caT 0 -BRSK2 UCSF GRCh37 11 1471823 1471823 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 6 93 0 ENST00000528841.1:c.1294C>T p.Pro432Ser p.P432S ENST00000528841 432 Cct/Tct 0 -BSCL2 UCSF GRCh37 11 62457979 62457979 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 8 68 0 ENST00000403550.1:c.1057G>A p.Glu353Lys p.E353K ENST00000403550 353 Gaa/Aaa 0 -BTBD7 UCSF GRCh37 14 93727962 93727962 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 247 39 434 0 ENST00000334746.5:c.1433G>A p.Arg478Lys p.R478K ENST00000334746 NM_001002860.2 478 aGa/aAa 0 -BTN2A1 UCSF GRCh37 6 26465535 26465535 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 29 226 0 ENST00000312541.5:c.835C>T p.Leu279= p.L279= ENST00000312541 NM_007049.4 279 Ctg/Ttg 0 -BTN2A2 UCSF GRCh37 6 26384079 26384079 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 157 27 202 0 ENST00000356709.4:c.30C>T p.Ser10= p.S10= ENST00000356709 NM_001197240.1 10 tcC/tcT 0 -BTNL8 UCSF GRCh37 5 180376252 180376252 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 5 41 0 ENST00000340184.4:c.849C>T p.Ala283= p.A283= ENST00000340184 NM_001040462.2 283 gcC/gcT 0 -BTRC UCSF GRCh37 10 103310583 103310583 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 13 6 32 0 ENST00000370187.3:c.1784C>T p.Ser595Phe p.S595F ENST00000370187 NM_033637.3 595 tCc/tTc 0 -BZRAP1 UCSF GRCh37 17 56388331 56388331 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 7 96 0 ENST00000343736.4:c.3325C>T p.Pro1109Ser p.P1109S ENST00000343736 1109 Cct/Tct 0 -LCOR UCSF GRCh37 10 98743405 98743405 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 12 217 0 ENST00000286067.2:c.2258C>T p.Ala753Val p.A753V ENST00000286067 NM_015652.2 753 gCt/gTt 0 -LCOR UCSF GRCh37 10 98744660 98744660 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 4 94 0 ENST00000286067.2:c.3513G>A p.Arg1171= p.R1171= ENST00000286067 NM_015652.2 1171 agG/agA 0 -C10orf71 UCSF GRCh37 10 50534068 50534068 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 45 111 0 ENST00000374144.3:c.3478C>T p.Pro1160Ser p.P1160S ENST00000374144 1160 Cct/Tct 0 -C10orf71 UCSF GRCh37 10 50534110 50534110 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 8 99 0 ENST00000374144.3:c.3520C>T p.Pro1174Ser p.P1174S ENST00000374144 1174 Cca/Tca 0 -C10orf76 UCSF GRCh37 10 103753294 103753294 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 7 129 0 ENST00000370033.4:c.1275+1G>A p.X425_splice ENST00000370033 NM_024541.2 0 -C11orf24 UCSF GRCh37 11 68029451 68029451 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 26 186 0 ENST00000304271.6:c.1012C>T p.Pro338Ser p.P338S ENST00000304271 NM_022338.3 338 Cca/Tca 0 -C11orf35 UCSF GRCh37 11 557923 557923 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 7 33 0 ENST00000329451.3:c.516G>A p.Trp172Ter p.W172* ENST00000329451 NM_173573.2 172 tgG/tgA 0 -C12orf10 UCSF GRCh37 12 53696882 53696882 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 10 62 0 ENST00000267103.5:c.394G>A p.Ala132Thr p.A132T ENST00000267103 NM_021640.3 132 Gcg/Acg 0 -C12orf48 UCSF GRCh37 12 102542166 102542166 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 175 24 274 0 ENST00000327680.2:c.69G>A p.Met23Ile p.M23I ENST00000327680 NM_017915.3 23 atG/atA 0 -C12orf51 UCSF GRCh37 12 112623136 112623136 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 8 47 0 ENST00000550722.1:c.9196C>T p.Leu3066= p.L3066= ENST00000550722 NM_001109662.3 3066 Ctg/Ttg 0 -C12orf68 UCSF GRCh37 12 48578225 48578225 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 33 196 0 ENST00000316554.3:c.320G>A p.Gly107Asp p.G107D ENST00000316554 NM_001013635.3 107 gGc/gAc 0 -C13orf16 UCSF GRCh37 13 111995112 111995112 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 134 30 221 0 ENST00000283547.1:c.249G>A p.Gln83= p.Q83= ENST00000283547 NM_152324.1 83 caG/caA 0 -C14orf182 UCSF GRCh37 14 50472417 50472417 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 287 41 452 0 ENST00000399206.1:c.101C>T p.Ala34Val p.A34V ENST00000399206 NM_001012706.1 34 gCc/gTc 0 -C14orf183 UCSF GRCh37 14 50558446 50558446 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 14 165 0 ENST00000305273.1:c.122C>T p.Pro41Leu p.P41L ENST00000305273 NM_001014830.1 41 cCc/cTc 0 -C14orf37 UCSF GRCh37 14 58604864 58604864 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 25 215 0 ENST00000267485.7:c.1213G>A p.Glu405Lys p.E405K ENST00000267485 NM_001001872.2 405 Gaa/Aaa 0 -C15orf33 UCSF GRCh37 15 49907317 49907317 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 33 263 0 ENST00000299338.6:c.51+1G>A p.X17_splice ENST00000299338 NM_152647.2 0 -C15orf42 UCSF GRCh37 15 90150057 90150057 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 19 197 0 ENST00000268138.7:c.2722+1G>A p.X908_splice ENST00000268138 0 -C15orf59 UCSF GRCh37 15 74032417 74032417 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 12 144 0 ENST00000379822.4:c.723G>A p.Arg241= p.R241= ENST00000379822 NM_001039614.1 241 cgG/cgA 0 -C17orf101 UCSF GRCh37 17 80373362 80373362 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 248 53 363 0 ENST00000313056.5:c.216G>A p.Glu72= p.E72= ENST00000313056 NM_024648.2 72 gaG/gaA 0 -C17orf39 UCSF GRCh37 17 17943049 17943049 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 4 45 0 ENST00000268719.4:c.271C>T p.Pro91Ser p.P91S ENST00000268719 NM_024052.4 91 Ccc/Tcc 0 -SEPTIN4 UCSF GRCh37 17 56621224 56621224 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 191 111 400 0 ENST00000321691.3:c.324G>A p.Lys108= p.K108= ENST00000321691 NM_001038704.2 108 aaG/aaA 0 -C17orf51 UCSF GRCh37 17 21454409 21454409 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 14 95 0 ENST00000391411.5:c.277C>T p.Leu93= p.L93= ENST00000391411 NM_001113434.3 93 Ctg/Ttg 0 -C17orf53 UCSF GRCh37 17 42225701 42225701 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 9 87 0 ENST00000319977.4:c.530G>A p.Gly177Glu p.G177E ENST00000319977 NM_024032.3 177 gGa/gAa 0 -C17orf75 UCSF GRCh37 17 30662460 30662460 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 29 203 1 ENST00000577809.1:c.551C>T p.Ala184Val p.A184V ENST00000577809 NM_022344.3 184 gCa/gTa 0 -C17orf80 UCSF GRCh37 17 71232924 71232924 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 249 35 320 0 ENST00000359042.2:c.1303G>A p.Ala435Thr p.A435T ENST00000359042 NM_017941.4 435 Gcc/Acc 0 -LIAT1 UCSF GRCh37 17 263205 263205 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 30 180 0 ENST00000360127.6:c.571C>T p.Leu191= p.L191= ENST00000360127 NM_001013672.4 191 Ctg/Ttg 0 -C18orf8 UCSF GRCh37 18 21098917 21098917 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 13 44 0 ENST00000269221.3:c.717G>A p.Ala239= p.A239= ENST00000269221 NM_013326.4 239 gcG/gcA 0 -C19orf29 UCSF GRCh37 19 3623943 3623943 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 193 70 208 0 ENST00000221899.3:c.181G>A p.Ala61Thr p.A61T ENST00000221899 61 Gcg/Acg 0 -C19orf29 UCSF GRCh37 19 3623985 3623985 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 12 112 0 ENST00000221899.3:c.139G>A p.Ala47Thr p.A47T ENST00000221899 47 Gca/Aca 0 -C19orf29 UCSF GRCh37 19 3613530 3613530 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 136 17 145 0 ENST00000221899.3:c.1206G>A p.Gln402= p.Q402= ENST00000221899 402 caG/caA 0 -C1orf106 UCSF GRCh37 1 200876961 200876961 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 4 23 0 ENST00000367342.4:c.776-1G>A p.X259_splice ENST00000367342 NM_018265.3 0 -C1orf127 UCSF GRCh37 1 11007896 11007896 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 12 101 0 ENST00000377004.4:c.2296C>T p.Pro766Ser p.P766S ENST00000377004 NM_001170754.1 766 Ccc/Tcc 0 -C1orf141 UCSF GRCh37 1 67592920 67592920 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 328 54 571 1 ENST00000371006.1:c.4G>A p.Ala2Thr p.A2T ENST00000371006 2 Gca/Aca 0 -C1orf173 UCSF GRCh37 1 75055443 75055443 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 32 299 0 ENST00000326665.5:c.2048G>A p.Gly683Asp p.G683D ENST00000326665 NM_001002912.4 683 gGt/gAt 0 -C1orf63 UCSF GRCh37 1 25573350 25573350 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 26 190 0 ENST00000243189.7:c.105G>A p.Arg35= p.R35= ENST00000243189 NM_020317.3 35 agG/agA 0 -C1orf65 UCSF GRCh37 1 223568113 223568113 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 4 17 0 ENST00000366875.3:c.1296C>T p.Ala432= p.A432= ENST00000366875 NM_152610.2 432 gcC/gcT 0 -C1S UCSF GRCh37 12 7173913 7173913 + synonymous_variant Silent SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 23 126 0 ENST00000328916.3:c.963T>C p.Cys321= p.C321= ENST00000328916 NM_201442.2 321 tgT/tgC 0 -C2 UCSF GRCh37 6 31905227 31905227 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 5 35 0 ENST00000299367.5:c.1120C>T p.Leu374= p.L374= ENST00000299367 NM_000063.4 374 Ctg/Ttg 0 -C20orf132 UCSF GRCh37 20 35788532 35788532 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 284 46 412 0 ENST00000343811.4:c.776C>T p.Arg259= p.R259= ENST00000343811 NM_152503.4 259 cgC/cgT 0 -C20orf177 UCSF GRCh37 20 58519916 58519916 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 13 160 0 ENST00000358293.3:c.918G>A p.Trp306Ter p.W306* ENST00000358293 NM_001190826.1 306 tgG/tgA 0 -C20orf3 UCSF GRCh37 20 24950902 24950902 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 32 251 0 ENST00000217456.2:c.644C>T p.Thr215Ile p.T215I ENST00000217456 NM_020531.2 215 aCc/aTc 0 -C22orf29 UCSF GRCh37 22 19839202 19839202 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 183 22 241 0 ENST00000328554.4:c.583C>T p.Pro195Ser p.P195S ENST00000328554 NM_024627.5 195 Ccc/Tcc 0 -C2orf15 UCSF GRCh37 2 99766983 99766983 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 19 180 0 ENST00000302513.2:c.64G>A p.Val22Ile p.V22I ENST00000302513 NM_144706.2 22 Gta/Ata 0 -C2orf16 UCSF GRCh37 2 27802966 27802966 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 217 28 342 1 ENST00000408964.2:c.3527C>T p.Ser1176Phe p.S1176F ENST00000408964 NM_032266.3 1176 tCc/tTc 0 -C2orf16 UCSF GRCh37 2 27802761 27802761 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 379 67 584 0 ENST00000408964.2:c.3322C>T p.Pro1108Ser p.P1108S ENST00000408964 NM_032266.3 1108 Cca/Tca 0 -C2orf28 UCSF GRCh37 2 27439390 27439390 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 16 154 0 ENST00000606999.1:c.488-1G>A p.X163_splice ENST00000606999 NM_001170795.1 0 -C2orf29 UCSF GRCh37 2 101869740 101869740 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 11 143 0 ENST00000289382.3:c.314G>A p.Gly105Asp p.G105D ENST00000289382 NM_017546.4 105 gGc/gAc 0 -C2orf65 UCSF GRCh37 2 74785967 74785967 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 285 52 380 0 ENST00000290536.5:c.1469C>T p.Thr490Ile p.T490I ENST00000290536 NM_138804.4 490 aCt/aTt 0 -C3orf17 UCSF GRCh37 3 112730247 112730247 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 37 256 0 ENST00000314400.5:c.558C>T p.Leu186= p.L186= ENST00000314400 NM_015412.3 186 ctC/ctT 0 -C3orf25 UCSF GRCh37 3 129120583 129120583 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 4 28 0 ENST00000326085.3:c.1572C>T p.Asp524= p.D524= ENST00000326085 524 gaC/gaT 0 -C3orf58 UCSF GRCh37 3 143708377 143708377 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 17 185 0 ENST00000315691.3:c.987G>A p.Trp329Ter p.W329* ENST00000315691 NM_173552.3 329 tgG/tgA 0 -C3orf77 UCSF GRCh37 3 44310793 44310793 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 14 115 0 ENST00000309765.4:c.3246G>A p.Gly1082= p.G1082= ENST00000309765 NM_001145030.1 1082 ggG/ggA 0 -C4BPB UCSF GRCh37 1 207271536 207271536 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 21 202 0 ENST00000243611.5:c.545G>A p.Gly182Glu p.G182E ENST00000243611 NM_000716.3 182 gGg/gAg 0 -C4orf14 UCSF GRCh37 4 57843376 57843376 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 39 219 0 ENST00000264230.4:c.376G>A p.Val126Ile p.V126I ENST00000264230 NM_032313.2 126 Gtc/Atc 0 -C4orf17 UCSF GRCh37 4 100443827 100443827 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 10 42 0 ENST00000326581.4:c.298G>A p.Ala100Thr p.A100T ENST00000326581 NM_032149.2 100 Gcc/Acc 0 -C4orf21 UCSF GRCh37 4 113538832 113538832 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 342 48 507 0 ENST00000445203.2:c.2273G>A p.Gly758Glu p.G758E ENST00000445203 758 gGa/gAa 0 -C5orf34 UCSF GRCh37 5 43503809 43503809 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 228 26 317 0 ENST00000306862.2:c.986C>T p.Pro329Leu p.P329L ENST00000306862 NM_198566.2 329 cCt/cTt 0 -C5orf35 UCSF GRCh37 5 56205488 56205488 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 18 144 0 ENST00000285947.2:c.16C>T p.Leu6= p.L6= ENST00000285947 NM_153706.3 6 Ctg/Ttg 0 -C5orf42 UCSF GRCh37 5 37244646 37244646 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 58 220 0 ENST00000425232.2:c.401C>T p.Pro134Leu p.P134L ENST00000425232 NM_023073.3 134 cCt/cTt 0 -C5orf54 UCSF GRCh37 5 159820941 159820941 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 293 47 412 0 ENST00000408953.3:c.1557C>T p.Ala519= p.A519= ENST00000408953 NM_022090.3 519 gcC/gcT 0 -C6orf106 UCSF GRCh37 6 34664256 34664256 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 7 77 1 ENST00000374023.3:c.125C>T p.Ala42Val p.A42V ENST00000374023 NM_024294.2 42 gCc/gTc 0 -C6orf203 UCSF GRCh37 6 107372309 107372309 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 7 59 0 ENST00000311381.5:c.592G>A p.Ala198Thr p.A198T ENST00000311381 NM_016487.3 198 Gca/Aca 0 -C6orf25 UCSF GRCh37 6 31691969 31691969 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 191 39 296 0 ENST00000375806.2:c.460C>T p.Leu154Phe p.L154F ENST00000375806 154 Ctc/Ttc 0 -C6orf27 UCSF GRCh37 6 31737510 31737510 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 14 51 0 ENST00000375688.4:c.1259C>T p.Pro420Leu p.P420L ENST00000375688 420 cCc/cTc 0 -C7orf36 UCSF GRCh37 7 39612265 39612265 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 16 195 0 ENST00000223273.2:c.641G>A p.Gly214Asp p.G214D ENST00000223273 NM_020192.3 214 gGc/gAc 0 -C7orf47 UCSF GRCh37 7 100032988 100032988 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 11 93 0 ENST00000292330.2:c.757G>A p.Ala253Thr p.A253T ENST00000292330 NM_145030.2 253 Gcg/Acg 0 -C7orf70 UCSF GRCh37 7 6370050 6370050 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 18 117 0 ENST00000313324.4:c.736G>A p.Ala246Thr p.A246T ENST00000313324 NM_001037163.1 246 Gct/Act 0 -C9orf139 UCSF GRCh37 9 139929283 139929283 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 199 34 237 0 ENST00000314330.2:c.350C>T p.Pro117Leu p.P117L ENST00000314330 NM_207511.1 117 cCc/cTc 0 -C9orf140 UCSF GRCh37 9 139960809 139960809 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 15 123 0 ENST00000409687.3:c.589G>A p.Ala197Thr p.A197T ENST00000409687 NM_178448.3 197 Gcc/Acc 0 -C9orf156 UCSF GRCh37 9 100672771 100672771 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 13 136 0 ENST00000375119.3:c.537G>A p.Gln179= p.Q179= ENST00000375119 NM_016481.3 179 caG/caA 0 -C9orf169 UCSF GRCh37 9 140120399 140120399 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 11 138 0 ENST00000359069.2:c.326G>A p.Gly109Glu p.G109E ENST00000359069 NM_199001.2 109 gGg/gAg 0 -S1PR3 UCSF GRCh37 9 91606069 91606069 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 15 127 0 ENST00000334490.5:c.159C>T p.Phe53= p.F53= ENST00000334490 53 ttC/ttT 0 -C9orf68 UCSF GRCh37 9 4622455 4622455 + missense_variant,NMD_transcript_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 14 88 0 ENST00000461761.1:c.725C>T p.Ser242Phe p.S242F ENST00000461761 242 tCt/tTt 0 -C9orf86 UCSF GRCh37 9 139731824 139731824 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 3 25 0 ENST00000311502.7:c.836G>A p.Ser279Asn p.S279N ENST00000311502 279 aGc/aAc 0 -CABIN1 UCSF GRCh37 22 24456476 24456476 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 144 28 195 0 ENST00000263119.5:c.1489C>T p.His497Tyr p.H497Y ENST00000263119 NM_012295.3 497 Cac/Tac 0 -CACHD1 UCSF GRCh37 1 65117844 65117844 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 19 149 0 ENST00000290039.5:c.1238G>A p.Gly413Asp p.G413D ENST00000290039 NM_020925.2 413 gGt/gAt 0 -CACNA1A UCSF GRCh37 19 13340982 13340982 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 14 99 0 ENST00000360228.5:c.5442G>A p.Glu1814= p.E1814= ENST00000360228 NM_001127222.1 1814 gaG/gaA 0 -CACNA1E UCSF GRCh37 1 181701955 181701955 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 8 84 0 ENST00000367573.2:c.2733G>A p.Arg911= p.R911= ENST00000367573 NM_001205293.1 911 cgG/cgA 0 -CACNA1F UCSF GRCh37 X 49063214 49063214 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 7 78 0 ENST00000376265.2:c.5367C>T p.Arg1789= p.R1789= ENST00000376265 NM_005183.2 1789 cgC/cgT 0 -CACNA2D2 UCSF GRCh37 3 50425020 50425020 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 7 63 1 ENST00000479441.1:c.489C>T p.Asp163= p.D163= ENST00000479441 163 gaC/gaT 0 -CACNA2D4 UCSF GRCh37 12 1969357 1969357 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 29 234 0 ENST00000382722.5:c.1894C>T p.Leu632= p.L632= ENST00000382722 NM_172364.4 632 Ctg/Ttg 0 -CACNB4 UCSF GRCh37 2 152698533 152698533 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 212 38 307 0 ENST00000539935.1:c.1186G>A p.Glu396Lys p.E396K ENST00000539935 NM_001145798.1 396 Gag/Aag 0 -CAD UCSF GRCh37 2 27448004 27448004 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 85 191 0 ENST00000264705.4:c.1513C>T p.Pro505Ser p.P505S ENST00000264705 NM_004341.3 505 Cca/Tca 0 -CALCR UCSF GRCh37 7 93067438 93067438 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 11 112 0 ENST00000359558.2:c.966C>T p.Asn322= p.N322= ENST00000359558 NM_001164737.1 322 aaC/aaT 0 -CALCRL UCSF GRCh37 2 188217005 188217005 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 23 228 0 ENST00000392370.3:c.964G>A p.Val322Ile p.V322I ENST00000392370 NM_005795.5 322 Gtt/Att 0 -CALD1 UCSF GRCh37 7 134625943 134625943 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 26 97 0 ENST00000361675.2:c.1487G>A p.Gly496Glu p.G496E ENST00000361675 496 gGa/gAa 0 -CALR3 UCSF GRCh37 19 16596053 16596053 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 31 233 0 ENST00000269881.3:c.413G>A p.Gly138Glu p.G138E ENST00000269881 NM_145046.4 138 gGa/gAa 0 -CAMKK1 UCSF GRCh37 17 3785649 3785649 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 132 26 160 0 ENST00000348335.2:c.685+173C>T *229* ENST00000348335 NM_032294.2 0 -CAMT-ND2 UCSF GRCh37 3 12854500 12854500 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 8 85 0 ENST00000456430.2:c.769G>A p.Asp257Asn p.D257N ENST00000456430 NM_001162499.1 257 Gac/Aac 0 -CAPG UCSF GRCh37 2 85628372 85628372 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 15 172 0 ENST00000263867.4:c.432G>A p.Gly144= p.G144= ENST00000263867 NM_001256140.1 144 ggG/ggA 0 -CAPN1 UCSF GRCh37 11 64951005 64951005 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 22 131 0 ENST00000279247.6:c.398G>A p.Arg133Gln p.R133Q ENST00000279247 NM_005186.3 133 cGa/cAa 0 -CARD10 UCSF GRCh37 22 37902215 37902215 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 18 0 ENST00000251973.5:c.1367G>A p.Gly456Asp p.G456D ENST00000251973 NM_014550.3 456 gGt/gAt 0 -CARD10 UCSF GRCh37 22 37903890 37903890 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 18 115 0 ENST00000251973.5:c.1137C>T p.His379= p.H379= ENST00000251973 NM_014550.3 379 caC/caT 0 -CARD14 UCSF GRCh37 17 78165266 78165266 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 5 52 0 ENST00000344227.2:c.1234G>A p.Gly412Ser p.G412S ENST00000344227 NM_024110.4 412 Ggt/Agt 0 -CARD14 UCSF GRCh37 17 78166319 78166319 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 6 46 0 ENST00000344227.2:c.1257G>A p.Arg419= p.R419= ENST00000344227 NM_024110.4 419 agG/agA 0 -CARD8 UCSF GRCh37 19 48733713 48733713 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 25 239 0 ENST00000391898.3:c.1017C>T p.Ser339= p.S339= ENST00000391898 NM_001184900.1 339 agC/agT 0 -CARD8 UCSF GRCh37 19 48734242 48734242 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 4 63 0 ENST00000391898.3:c.564C>T p.Gly188= p.G188= ENST00000391898 NM_001184900.1 188 ggC/ggT 0 -CARM1 UCSF GRCh37 19 11022892 11022892 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 401 151 508 0 ENST00000327064.4:c.591C>T p.Ile197= p.I197= ENST00000327064 NM_199141.1 197 atC/atT 0 -CARS UCSF GRCh37 11 3028116 3028116 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 16 193 0 ENST00000397111.5:c.1893C>T p.Asp631= p.D631= ENST00000397111 631 gaC/gaT 0 -CASKIN1 UCSF GRCh37 16 2230836 2230836 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 5 51 0 ENST00000343516.6:c.2533G>A p.Gly845Arg p.G845R ENST00000343516 NM_020764.3 845 Ggg/Agg 0 -CASKIN2 UCSF GRCh37 17 73498124 73498124 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 17 111 0 ENST00000321617.3:c.3031G>A p.Val1011Met p.V1011M ENST00000321617 NM_020753.4 1011 Gtg/Atg 0 -CASKIN2 UCSF GRCh37 17 73509868 73509868 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 214 47 296 0 ENST00000321617.3:c.18C>T p.Asp6= p.D6= ENST00000321617 NM_020753.4 6 gaC/gaT 0 -CASP1 UCSF GRCh37 11 104897673 104897673 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 20 165 0 ENST00000436863.3:c.1012G>A p.Val338Ile p.V338I ENST00000436863 NM_033292.3 338 Gtt/Att 0 -CASP8AP2 UCSF GRCh37 6 90562942 90562942 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 33 241 0 ENST00000551025.1:n.1550G>A *517* ENST00000551025 0 -CBFA2T2 UCSF GRCh37 20 32212628 32212628 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 41 305 0 ENST00000346541.3:c.778G>A p.Val260Ile p.V260I ENST00000346541 NM_005093.3 260 Gta/Ata 0 -CBL UCSF GRCh37 11 119145623 119145623 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 12 104 0 ENST00000264033.4:c.829G>A p.Val277Met p.V277M ENST00000264033 NM_005188.3 277 Gtg/Atg 0 -CBX2 UCSF GRCh37 17 77758206 77758206 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 18 141 0 ENST00000310942.4:c.964G>A p.Gly322Arg p.G322R ENST00000310942 NM_005189.2 322 Ggg/Agg 0 -CBX6 UCSF GRCh37 22 39262663 39262663 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 13 59 0 ENST00000407418.3:c.790C>T p.Pro264Ser p.P264S ENST00000407418 264 Ccc/Tcc 0 -CCBE1 UCSF GRCh37 18 57107014 57107014 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 6 37 0 ENST00000439986.4:c.810C>T p.Pro270= p.P270= ENST00000439986 NM_133459.3 270 ccC/ccT 0 -CCDC108 UCSF GRCh37 2 219903674 219903674 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 9 70 0 ENST00000341552.5:c.97C>T p.Leu33Phe p.L33F ENST00000341552 NM_194302.3 33 Ctc/Ttc 0 -CCDC112 UCSF GRCh37 5 114612683 114612683 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 9 80 0 ENST00000395557.4:c.181G>A p.Asp61Asn p.D61N ENST00000395557 NM_152549.2 61 Gat/Aat 0 -CCDC113 UCSF GRCh37 16 58312424 58312424 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 7 36 0 ENST00000219299.4:c.930G>A p.Arg310= p.R310= ENST00000219299 NM_014157.3 310 cgG/cgA 0 -CCDC13 UCSF GRCh37 3 42798628 42798628 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 263 35 374 0 ENST00000310232.6:c.300G>A p.Leu100= p.L100= ENST00000310232 NM_144719.3 100 ctG/ctA 0 -CCDC157 UCSF GRCh37 22 30771592 30771592 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 116 21 115 0 ENST00000338306.3:c.1797C>T p.Asn599= p.N599= ENST00000338306 NM_001017437.2 599 aaC/aaT 0 -CCDC158 UCSF GRCh37 4 77288491 77288491 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 12 141 0 ENST00000388914.3:c.1786G>A p.Glu596Lys p.E596K ENST00000388914 NM_001042784.1 596 Gag/Aag 0 -CCDC169 UCSF GRCh37 13 36869981 36869981 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 30 282 0 ENST00000239859.7:c.97C>T p.Leu33Phe p.L33F ENST00000239859 33 Ctc/Ttc 0 -CCDC28A UCSF GRCh37 6 139100982 139100982 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 7 55 0 ENST00000332797.6:c.452C>T p.Pro151Leu p.P151L ENST00000332797 NM_015439.2 151 cCt/cTt 0 -CCDC42B UCSF GRCh37 12 113592333 113592333 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 3 19 0 ENST00000335621.6:c.583C>T p.Leu195= p.L195= ENST00000335621 NM_001144872.1 195 Ctg/Ttg 0 -CCDC48 UCSF GRCh37 3 128758672 128758672 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 337 38 446 0 ENST00000436022.2:c.467C>T p.Pro156Leu p.P156L ENST00000436022 NM_024768.2 156 cCc/cTc 0 -CCDC67 UCSF GRCh37 11 93127823 93127823 + splice_donor_variant Splice_Site SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 4 34 0 ENST00000298050.3:c.1239+1G>T p.X413_splice ENST00000298050 NM_181645.3 0 -CCDC70 UCSF GRCh37 13 52440126 52440126 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 11 140 0 ENST00000242819.4:c.612C>T p.Gly204= p.G204= ENST00000242819 NM_031290.2 204 ggC/ggT 0 -CCDC80 UCSF GRCh37 3 112358176 112358176 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 132 29 203 0 ENST00000206423.3:c.577G>A p.Ala193Thr p.A193T ENST00000206423 NM_199512.1 193 Gca/Aca 0 -CCDC87 UCSF GRCh37 11 66360341 66360341 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 43 133 0 ENST00000333861.3:c.146C>T p.Pro49Leu p.P49L ENST00000333861 NM_018219.2 49 cCt/cTt 0 -CCDC88B UCSF GRCh37 11 64117117 64117117 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 6 42 0 ENST00000356786.5:c.2839C>T p.Gln947Ter p.Q947* ENST00000356786 NM_032251.5 947 Cag/Tag 0 -CCDC88B UCSF GRCh37 11 64111020 64111020 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 204 43 296 0 ENST00000356786.5:c.1251G>A p.Glu417= p.E417= ENST00000356786 NM_032251.5 417 gaG/gaA 0 -CCDC96 UCSF GRCh37 4 7044063 7044063 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 708 115 847 1 ENST00000310085.4:c.603C>T p.Leu201= p.L201= ENST00000310085 NM_153376.2 201 ctC/ctT 0 -CCKBR UCSF GRCh37 11 6281250 6281250 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 5 57 0 ENST00000334619.2:c.92G>A p.Ser31Asn p.S31N ENST00000334619 NM_176875.3 31 aGc/aAc 0 -CCNE1 UCSF GRCh37 19 30313252 30313252 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 173 27 276 0 ENST00000262643.3:c.946G>A p.Val316Ile p.V316I ENST00000262643 NM_001238.2 316 Gtt/Att 0 -CCPG1 UCSF GRCh37 15 55669234 55669234 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 46 154 0 ENST00000310958.6:c.367G>A p.Val123Ile p.V123I ENST00000310958 NM_001204451.1 123 Gtc/Atc 0 -CCPG1 UCSF GRCh37 15 55652252 55652252 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 233 31 398 0 ENST00000310958.6:c.1719G>A p.Gln573= p.Q573= ENST00000310958 NM_001204451.1 573 caG/caA 0 -CCR4 UCSF GRCh37 3 32994996 32994996 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 22 196 0 ENST00000330953.5:c.82C>T p.Pro28Ser p.P28S ENST00000330953 NM_005508.4 28 Cct/Tct 0 -CCT7 UCSF GRCh37 2 73470250 73470250 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 404 73 563 0 ENST00000258091.5:c.386C>T p.Thr129Ile p.T129I ENST00000258091 NM_006429.3 129 aCc/aTc 0 -CCT7 UCSF GRCh37 2 73471671 73471671 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 13 132 0 ENST00000258091.5:c.447-1G>A p.X149_splice ENST00000258091 NM_006429.3 0 -CD101 UCSF GRCh37 1 117559842 117559842 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 10 67 0 ENST00000256652.4:c.1359C>T p.Asp453= p.D453= ENST00000256652 NM_004258.5 453 gaC/gaT 0 -CD19 UCSF GRCh37 16 28946795 28946795 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 26 239 0 ENST00000324662.3:c.866G>A p.Gly289Asp p.G289D ENST00000324662 289 gGc/gAc 0 -CD1E UCSF GRCh37 1 158325748 158325748 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 4 57 0 ENST00000368167.3:c.757G>A p.Gly253Ser p.G253S ENST00000368167 NM_030893.3 253 Ggc/Agc 0 -CD22 UCSF GRCh37 19 35837562 35837562 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 17 195 0 ENST00000085219.5:c.2506G>A p.Ala836Thr p.A836T ENST00000085219 NM_001771.3 836 Gca/Aca 0 -CD248 UCSF GRCh37 11 66084293 66084293 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 5 38 1 ENST00000311330.3:c.206G>A p.Arg69His p.R69H ENST00000311330 NM_020404.2 69 cGt/cAt 0 -CD300LB UCSF GRCh37 17 72522017 72522017 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 369 47 545 0 ENST00000392621.1:c.351C>T p.Asp117= p.D117= ENST00000392621 NM_174892.3 117 gaC/gaT 0 -CD300LG UCSF GRCh37 17 41932684 41932684 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 30 248 0 ENST00000317310.4:c.829G>A p.Glu277Lys p.E277K ENST00000317310 NM_145273.3 277 Gaa/Aaa 0 -CD79B UCSF GRCh37 17 62009612 62009612 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 4 39 0 ENST00000006750.3:c.10C>T p.Leu4= p.L4= ENST00000006750 NM_021602.2 4 Ctg/Ttg 0 -CD82 UCSF GRCh37 11 44640662 44640662 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 323 72 468 0 ENST00000227155.4:c.790G>A p.Val264Ile p.V264I ENST00000227155 NM_002231.3 264 Gtc/Atc 0 -CD86 UCSF GRCh37 3 121838324 121838324 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 14 74 0 ENST00000330540.2:c.933G>A p.Gln311= p.Q311= ENST00000330540 NM_175862.4 311 caG/caA 0 -CDADC1 UCSF GRCh37 13 49822220 49822220 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 5 24 0 ENST00000251108.6:c.47G>A p.Gly16Glu p.G16E ENST00000251108 NM_001193478.1 16 gGg/gAg 0 -CDAN1 UCSF GRCh37 15 43017755 43017755 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 17 112 0 ENST00000356231.3:c.3382C>T p.Pro1128Ser p.P1128S ENST00000356231 NM_138477.2 1128 Ccg/Tcg 0 -CDAN1 UCSF GRCh37 15 43028098 43028098 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 37 232 0 ENST00000356231.3:c.748G>A p.Glu250Lys p.E250K ENST00000356231 NM_138477.2 250 Gag/Aag 0 -CDC14A UCSF GRCh37 1 100889822 100889822 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 351 58 561 0 ENST00000336454.3:c.354C>T p.Leu118= p.L118= ENST00000336454 NM_003672.3 118 ctC/ctT 0 -CDC42BPA UCSF GRCh37 1 227219128 227219128 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 255 43 401 0 ENST00000334218.5:c.3541G>A p.Gly1181Arg p.G1181R ENST00000334218 1181 Gga/Aga 0 -CDC42BPA UCSF GRCh37 1 227300117 227300117 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 22 235 0 ENST00000334218.5:c.1897G>A p.Val633Ile p.V633I ENST00000334218 633 Gtt/Att 0 -CDC42EP4 UCSF GRCh37 17 71281979 71281979 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 29 226 0 ENST00000335793.3:c.661G>A p.Val221Ile p.V221I ENST00000335793 221 Gtc/Atc 0 -CDC5L UCSF GRCh37 6 44360425 44360425 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 8 45 0 ENST00000371477.3:c.171C>T p.Ser57= p.S57= ENST00000371477 NM_001253.3 57 agC/agT 0 -CDC6 UCSF GRCh37 17 38447468 38447468 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 174 93 354 0 ENST00000209728.4:c.337G>A p.Ala113Thr p.A113T ENST00000209728 NM_001254.3 113 Gcc/Acc 0 -CDCA7L UCSF GRCh37 7 21947778 21947778 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 6 35 0 ENST00000406877.3:c.651G>A p.Arg217= p.R217= ENST00000406877 NM_018719.4 217 agG/agA 0 -CDH11 UCSF GRCh37 16 64984895 64984895 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 6 84 0 ENST00000268603.4:c.1669C>T p.Arg557Cys p.R557C ENST00000268603 NM_001797.2 557 Cgt/Tgt 0 -CDH23 UCSF GRCh37 10 73437447 73437447 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 7 8 35 0 ENST00000224721.6:c.1764C>T p.Leu588= p.L588= ENST00000224721 NM_022124.5 588 ctC/ctT 0 -CDH6 UCSF GRCh37 5 31302331 31302331 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 10 93 0 ENST00000265071.2:c.925G>A p.Asp309Asn p.D309N ENST00000265071 NM_004932.3 309 Gac/Aac 0 -CDH7 UCSF GRCh37 18 63477089 63477089 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 8 103 0 ENST00000323011.3:c.360C>T p.Leu120= p.L120= ENST00000323011 NM_033646.1 120 ctC/ctT 0 -CDHR5 UCSF GRCh37 11 618993 618993 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 11 61 0 ENST00000358353.3:c.1566G>A p.Pro522= p.P522= ENST00000358353 522 ccG/ccA 0 -CDK19 UCSF GRCh37 6 110953334 110953334 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 27 359 0 ENST00000368911.3:c.545C>T p.Ser182Phe p.S182F ENST00000368911 NM_015076.3 182 tCt/tTt 0 -CDK6 UCSF GRCh37 7 92247402 92247402 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 78 11 106 0 ENST00000265734.4:c.818G>A p.Gly273Asp p.G273D ENST00000265734 NM_001259.6 273 gGc/gAc 0 -CDKL3 UCSF GRCh37 5 133695755 133695755 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 7 42 0 ENST00000265334.4:c.193C>T p.Leu65= p.L65= ENST00000265334 NM_001113575.1 65 Ctg/Ttg 0 -CDKL4 UCSF GRCh37 2 39456661 39456661 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 289 47 439 0 ENST00000395035.3:c.13G>A p.Glu5Lys p.E5K ENST00000395035 5 Gaa/Aaa 0 -CDS2 UCSF GRCh37 20 5157294 5157294 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 134 19 163 0 ENST00000460006.1:c.292G>A p.Val98Met p.V98M ENST00000460006 NM_003818.3 98 Gtg/Atg 0 -CDX2 UCSF GRCh37 13 28542701 28542701 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 11 82 0 ENST00000381020.7:c.443C>T p.Ala148Val p.A148V ENST00000381020 NM_001265.4 148 gCc/gTc 0 -CECR2 UCSF GRCh37 22 18021882 18021882 + downstream_gene_variant 3'Flank SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 5 57 0 ENST00000342247 0 -CELF6 UCSF GRCh37 15 72581778 72581778 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 21 112 0 ENST00000287202.5:c.818C>T p.Ala273Val p.A273V ENST00000287202 NM_052840.4 273 gCg/gTg 0 -CELSR2 UCSF GRCh37 1 109801126 109801126 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 13 107 0 ENST00000271332.3:c.3383G>A p.Ser1128Asn p.S1128N ENST00000271332 NM_001408.2 1128 aGc/aAc 0 -CELSR2 UCSF GRCh37 1 109806880 109806880 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 16 162 0 ENST00000271332.3:c.5182G>A p.Gly1728Ser p.G1728S ENST00000271332 NM_001408.2 1728 Ggc/Agc 0 -CELSR3 UCSF GRCh37 3 48698042 48698042 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 272 45 368 1 ENST00000164024.4:c.2026G>A p.Val676Ile p.V676I ENST00000164024 NM_001407.2 676 Gtc/Atc 0 -CELSR3 UCSF GRCh37 3 48681069 48681069 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 8 30 0 ENST00000164024.4:c.8207C>T p.Ala2736Val p.A2736V ENST00000164024 NM_001407.2 2736 gCc/gTc 0 -CENPB UCSF GRCh37 20 3766314 3766314 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 15 156 0 ENST00000379751.4:c.817G>A p.Ala273Thr p.A273T ENST00000379751 NM_001810.5 273 Gcc/Acc 0 -CENPO UCSF GRCh37 2 25016798 25016798 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 19 136 0 ENST00000260662.1:c.10G>A p.Ala4Thr p.A4T ENST00000260662 NM_024322.2 4 Gcg/Acg 0 -CEP112 UCSF GRCh37 17 64128857 64128857 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 15 136 0 ENST00000392769.2:c.495C>T p.Leu165= p.L165= ENST00000392769 NM_145036.3 165 ctC/ctT 0 -CEP135 UCSF GRCh37 4 56846433 56846433 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 25 96 0 ENST00000257287.4:c.1598G>A p.Arg533Lys p.R533K ENST00000257287 NM_025009.4 533 aGa/aAa 0 -CEP250 UCSF GRCh37 20 34092083 34092083 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 7 74 0 ENST00000397527.1:c.5886G>A p.Arg1962= p.R1962= ENST00000397527 NM_007186.3 1962 cgG/cgA 0 -CEP350 UCSF GRCh37 1 180059928 180059928 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 22 333 0 ENST00000367607.3:c.6505G>A p.Val2169Ile p.V2169I ENST00000367607 NM_014810.4 2169 Gtt/Att 0 -CEP85 UCSF GRCh37 1 26597537 26597537 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 116 23 159 1 ENST00000252992.4:c.1682G>A p.Ser561Asn p.S561N ENST00000252992 NM_022778.3 561 aGt/aAt 0 -CEP97 UCSF GRCh37 3 101450725 101450725 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 22 226 0 ENST00000341893.3:c.489G>A p.Met163Ile p.M163I ENST00000341893 163 atG/atA 0 -CFTR UCSF GRCh37 7 117232451 117232451 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 378 47 394 0 ENST00000003084.6:c.2230C>T p.Gln744Ter p.Q744* ENST00000003084 NM_000492.3 744 Cag/Tag 0 -CHD2 UCSF GRCh37 15 93540211 93540211 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 7 97 0 ENST00000394196.4:c.3620G>A p.Gly1207Asp p.G1207D ENST00000394196 NM_001271.3 1207 gGt/gAt 0 -CHD3 UCSF GRCh37 17 7806808 7806808 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 511 95 708 0 ENST00000330494.7:c.3714G>A p.Lys1238= p.K1238= ENST00000330494 NM_001005273.2 1238 aaG/aaA 0 -CHD8 UCSF GRCh37 14 21876526 21876526 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 12 147 0 ENST00000399982.2:c.2675G>A p.Ser892Asn p.S892N ENST00000399982 NM_001170629.1 892 aGt/aAt 0 -CHD9 UCSF GRCh37 16 53355489 53355489 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 10 134 0 ENST00000398510.3:c.7765G>A p.Glu2589Lys p.E2589K ENST00000398510 2589 Gaa/Aaa 0 -CHD9 UCSF GRCh37 16 53190970 53190970 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 236 44 387 0 ENST00000398510.3:c.969G>A p.Gln323= p.Q323= ENST00000398510 323 caG/caA 0 -CHFR UCSF GRCh37 12 133454233 133454233 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 8 118 0 ENST00000432561.2:c.141C>T p.Asp47= p.D47= ENST00000432561 47 gaC/gaT 0 -CHPF UCSF GRCh37 2 220404996 220404996 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 323 60 384 0 ENST00000243776.6:c.1437G>A p.Arg479= p.R479= ENST00000243776 NM_024536.5 479 cgG/cgA 0 -CHPF2 UCSF GRCh37 7 150934836 150934836 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 23 112 0 ENST00000035307.2:c.1388C>T p.Ala463Val p.A463V ENST00000035307 NM_019015.1 463 gCt/gTt 0 -CHRM4 UCSF GRCh37 11 46408064 46408064 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 224 32 293 0 ENST00000433765.2:c.44C>T p.Ser15Phe p.S15F ENST00000433765 NM_000741.2 15 tCc/tTc 0 -CHRNB2 UCSF GRCh37 1 154543944 154543944 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 298 39 370 0 ENST00000368476.3:c.645C>T p.Asn215= p.N215= ENST00000368476 NM_000748.2 215 aaC/aaT 0 -CHRNB2 UCSF GRCh37 1 154544313 154544313 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 266 31 310 0 ENST00000368476.3:c.1014C>T p.Val338= p.V338= ENST00000368476 NM_000748.2 338 gtC/gtT 0 -CHST12 UCSF GRCh37 7 2473490 2473490 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 39 415 0 ENST00000258711.6:c.1216C>T p.Pro406Ser p.P406S ENST00000258711 NM_001243794.1 406 Ccc/Tcc 0 -CHSY3 UCSF GRCh37 5 129240784 129240784 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 5 33 0 ENST00000305031.4:c.262C>T p.Leu88= p.L88= ENST00000305031 NM_175856.4 88 Ctg/Ttg 0 -CHUK UCSF GRCh37 10 101964296 101964296 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 48 386 0 ENST00000370397.7:c.1474G>A p.Glu492Lys p.E492K ENST00000370397 NM_001278.3 492 Gag/Aag 0 -CHURC1-FNTB UCSF GRCh37 14 65520017 65520017 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 16 141 0 ENST00000246166.2:c.1017C>T p.Ile339= p.I339= ENST00000246166 NM_002028.3 339 atC/atT 0 -CILP UCSF GRCh37 15 65490810 65490810 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 145 19 176 0 ENST00000261883.4:c.1814C>T p.Ser605Phe p.S605F ENST00000261883 NM_003613.3 605 tCc/tTc 0 -CITED2 UCSF GRCh37 6 139694288 139694288 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 495 89 625 0 ENST00000367651.2:c.794C>T p.Pro265Leu p.P265L ENST00000367651 NM_006079.4 265 cCc/cTc 0 -CKAP2L UCSF GRCh37 2 113514239 113514239 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 176 30 278 0 ENST00000302450.6:c.709C>T p.Leu237= p.L237= ENST00000302450 NM_152515.3 237 Ctg/Ttg 0 -CKM UCSF GRCh37 19 45810018 45810018 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 189 139 372 0 ENST00000221476.3:c.1136C>T p.Ala379Val p.A379V ENST00000221476 NM_001824.4 379 gCc/gTc 0 -CLCA2 UCSF GRCh37 1 86920950 86920950 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 332 63 560 0 ENST00000370565.4:c.2572G>A p.Glu858Lys p.E858K ENST00000370565 NM_006536.5 858 Gaa/Aaa 0 -CLCNKA UCSF GRCh37 1 16356567 16356567 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 8 72 0 ENST00000331433.4:c.1405G>A p.Ala469Thr p.A469T ENST00000331433 469 Gca/Aca 0 -CLDN25 UCSF GRCh37 11 113651151 113651151 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 323 63 433 0 ENST00000453129.2:c.634G>A p.Glu212Lys p.E212K ENST00000453129 NM_001101389.1 212 Gag/Aag 0 -CLEC10A UCSF GRCh37 17 6978505 6978505 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 116 24 158 0 ENST00000254868.4:c.819G>A p.Gly273= p.G273= ENST00000254868 NM_182906.2 273 ggG/ggA 0 -CLIP1 UCSF GRCh37 12 122825374 122825374 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 247 43 341 0 ENST00000540338.1:c.2377C>T p.Leu793Phe p.L793F ENST00000540338 793 Ctt/Ttt 0 -CLIP2 UCSF GRCh37 7 73787293 73787293 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 31 105 0 ENST00000223398.6:c.1412G>A p.Gly471Glu p.G471E ENST00000223398 NM_003388.4 471 gGg/gAg 0 -CLIP3 UCSF GRCh37 19 36508860 36508860 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 12 108 0 ENST00000360535.4:c.1217G>A p.Gly406Asp p.G406D ENST00000360535 NM_015526.2 406 gGc/gAc 0 -CLIP4 UCSF GRCh37 2 29366752 29366752 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 33 211 0 ENST00000320081.5:c.826G>A p.Ala276Thr p.A276T ENST00000320081 NM_024692.4 276 Gca/Aca 0 -CLK1 UCSF GRCh37 2 201719370 201719370 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 12 131 0 ENST00000321356.4:c.1189C>T p.Pro397Ser p.P397S ENST00000321356 NM_004071.3 397 Cct/Tct 0 -CLNK UCSF GRCh37 4 10542122 10542122 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 356 66 489 1 ENST00000226951.6:c.598C>T p.Pro200Ser p.P200S ENST00000226951 NM_052964.2 200 Ccc/Tcc 0 -CLP1 UCSF GRCh37 11 57427059 57427059 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 101 311 0 ENST00000525602.1:c.111G>A p.Leu37= p.L37= ENST00000525602 37 ttG/ttA 0 -CLRN2 UCSF GRCh37 4 17528641 17528641 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 228 28 316 0 ENST00000511148.2:c.635C>T p.Pro212Leu p.P212L ENST00000511148 NM_001079827.2 212 cCc/cTc 0 -CLSPN UCSF GRCh37 1 36215397 36215397 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 34 0 ENST00000318121.3:c.2044C>T p.Leu682Phe p.L682F ENST00000318121 NM_022111.3 682 Ctt/Ttt 0 -CLSPN UCSF GRCh37 1 36213585 36213585 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 32 209 0 ENST00000318121.3:c.2550G>A p.Lys850= p.K850= ENST00000318121 NM_022111.3 850 aaG/aaA 0 -CLSTN2 UCSF GRCh37 3 140178480 140178480 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 176 28 222 1 ENST00000458420.3:c.1091C>T p.Ala364Val p.A364V ENST00000458420 NM_022131.2 364 gCc/gTc 0 -CLSTN2 UCSF GRCh37 3 140282922 140282922 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 19 166 0 ENST00000458420.3:c.2602G>A p.Ala868Thr p.A868T ENST00000458420 NM_022131.2 868 Gct/Act 0 -CLTCL1 UCSF GRCh37 22 19230420 19230420 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 21 232 0 ENST00000427926.1:c.559G>A p.Asp187Asn p.D187N ENST00000427926 187 Gat/Aat 0 -CLUAP1 UCSF GRCh37 16 3582786 3582786 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 30 225 0 ENST00000576634.1:c.1037G>A p.Gly346Glu p.G346E ENST00000576634 NM_015041.2 346 gGa/gAa 0 -CLVS2 UCSF GRCh37 6 123319024 123319024 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 132 31 202 0 ENST00000275162.5:c.102G>A p.Val34= p.V34= ENST00000275162 NM_001010852.3 34 gtG/gtA 0 -CMYA5 UCSF GRCh37 5 79030057 79030057 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 33 355 0 ENST00000446378.2:c.5469G>A p.Lys1823= p.K1823= ENST00000446378 NM_153610.3 1823 aaG/aaA 0 -CNR1 UCSF GRCh37 6 88854268 88854268 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 197 33 236 0 ENST00000369499.2:c.726C>T p.Thr242= p.T242= ENST00000369499 242 acC/acT 0 -CNTN5 UCSF GRCh37 11 99715592 99715592 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 27 206 0 ENST00000524871.1:c.286G>A p.Asp96Asn p.D96N ENST00000524871 NM_014361.3 96 Gac/Aac 0 -CNTN5 UCSF GRCh37 11 99941273 99941273 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 3 18 0 ENST00000524871.1:c.1280G>A p.Gly427Glu p.G427E ENST00000524871 NM_014361.3 427 gGa/gAa 0 -CNTN6 UCSF GRCh37 3 1367580 1367580 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 208 31 312 0 ENST00000350110.2:c.1028G>A p.Gly343Glu p.G343E ENST00000350110 NM_014461.2 343 gGa/gAa 0 -COBL UCSF GRCh37 7 51096010 51096010 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 381 75 577 0 ENST00000265136.7:c.2783G>A p.Gly928Asp p.G928D ENST00000265136 NM_015198.3 928 gGt/gAt 0 -COBL UCSF GRCh37 7 51152960 51152960 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 14 57 0 ENST00000265136.7:c.999G>A p.Arg333= p.R333= ENST00000265136 NM_015198.3 333 cgG/cgA 0 -COG2 UCSF GRCh37 1 230829119 230829119 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 31 167 0 ENST00000366669.4:c.2197G>A p.Ala733Thr p.A733T ENST00000366669 NM_001145036.1 733 Gca/Aca 0 -COG2 UCSF GRCh37 1 230827142 230827142 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 13 164 0 ENST00000366669.4:c.1947C>T p.Thr649= p.T649= ENST00000366669 NM_001145036.1 649 acC/acT 0 -COL11A1 UCSF GRCh37 1 103352413 103352413 + missense_variant Missense_Mutation SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 20 210 0 ENST00000370096.3:c.4808C>A p.Pro1603Gln p.P1603Q ENST00000370096 NM_001854.3 1603 cCa/cAa 0 -COL11A2 UCSF GRCh37 6 33143431 33143431 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 19 107 0 ENST00000374708.4:c.2038G>A p.Gly680Arg p.G680R ENST00000374708 NM_080681.2 680 Gga/Aga 0 -COL12A1 UCSF GRCh37 6 75848226 75848226 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 167 24 228 0 ENST00000322507.8:c.5168C>T p.Ser1723Phe p.S1723F ENST00000322507 NM_004370.5 1723 tCc/tTc 0 -COL12A1 UCSF GRCh37 6 75893059 75893059 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 24 192 0 ENST00000322507.8:c.1598C>T p.Pro533Leu p.P533L ENST00000322507 NM_004370.5 533 cCt/cTt 0 -COL18A1 UCSF GRCh37 21 46925147 46925147 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 13 125 0 ENST00000359759.4:c.4213C>T p.Pro1405Ser p.P1405S ENST00000359759 1405 Cca/Tca 0 -COL20A1 UCSF GRCh37 20 61943349 61943349 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 9 65 0 ENST00000358894.6:c.1745G>A p.Arg582Lys p.R582K ENST00000358894 NM_020882.2 582 aGg/aAg 0 -COL20A1 UCSF GRCh37 20 61945187 61945187 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 9 99 0 ENST00000358894.6:c.2302G>A p.Val768Met p.V768M ENST00000358894 NM_020882.2 768 Gtg/Atg 0 -COL23A1 UCSF GRCh37 5 177684567 177684567 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 7 107 0 ENST00000390654.3:c.731G>A p.Gly244Asp p.G244D ENST00000390654 NM_173465.3 244 gGc/gAc 0 -COL24A1 UCSF GRCh37 1 86591741 86591741 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 22 287 0 ENST00000370571.2:c.278C>T p.Pro93Leu p.P93L ENST00000370571 NM_152890.5 93 cCt/cTt 0 -COL27A1 UCSF GRCh37 9 117068906 117068906 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 29 191 0 ENST00000356083.3:c.5045C>T p.Thr1682Ile p.T1682I ENST00000356083 NM_032888.2 1682 aCc/aTc 0 -COL28A1 UCSF GRCh37 7 7483230 7483230 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 182 21 192 0 ENST00000399429.3:c.1636C>T p.Gln546Ter p.Q546* ENST00000399429 NM_001037763.2 546 Cag/Tag 0 -COL2A1 UCSF GRCh37 12 48375911 48375911 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.00399,snp132_rs35504014 P24_Rec2 Untested WXS Illumina HiSeq 108 15 134 0 ENST00000380518.3:c.2334C>T p.Ala778= p.A778= ENST00000380518 NM_033150.2 778 gcC/gcT 0 -COL2A1 UCSF GRCh37 12 48380671 48380671 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 24 193 0 ENST00000380518.3:c.1366G>A p.Gly456Ser p.G456S ENST00000380518 NM_033150.2 456 Ggt/Agt 0 -COL3A1 UCSF GRCh37 2 189868993 189868993 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 24 98 0 ENST00000304636.3:c.2834G>A p.Gly945Asp p.G945D ENST00000304636 NM_000090.3 945 gGc/gAc 0 -COL3A1 UCSF GRCh37 2 189868138 189868138 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 11 53 0 ENST00000304636.3:c.2555G>A p.Gly852Asp p.G852D ENST00000304636 NM_000090.3 852 gGt/gAt 0 -COL4A3BP UCSF GRCh37 5 74676916 74676916 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 22 245 0 ENST00000405807.4:c.1728G>A p.Lys576= p.K576= ENST00000405807 NM_005713.2 576 aaG/aaA 0 -COL5A3 UCSF GRCh37 19 10089569 10089569 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 5 30 0 ENST00000264828.3:c.2962C>T p.Pro988Ser p.P988S ENST00000264828 NM_015719.3 988 Ccg/Tcg 0 -COL5A3 UCSF GRCh37 19 10089303 10089303 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 12 68 0 ENST00000264828.3:c.2965G>A p.Gly989Arg p.G989R ENST00000264828 NM_015719.3 989 Gga/Aga 0 -COL6A2 UCSF GRCh37 21 47546141 47546141 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 13 87 0 ENST00000300527.4:c.2412C>T p.Val804= p.V804= ENST00000300527 NM_001849.3 804 gtC/gtT 0 -COL6A3 UCSF GRCh37 2 238280963 238280963 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 17 156 0 ENST00000295550.4:c.3697G>A p.Asp1233Asn p.D1233N ENST00000295550 NM_004369.3 1233 Gac/Aac 0 -COL6A3 UCSF GRCh37 2 238242168 238242168 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 12 97 0 ENST00000295550.4:c.9253C>T p.Gln3085Ter p.Q3085* ENST00000295550 NM_004369.3 3085 Cag/Tag 0 -COL7A1 UCSF GRCh37 3 48612894 48612894 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 12 148 0 ENST00000328333.8:c.6058G>A p.Ala2020Thr p.A2020T ENST00000328333 NM_000094.3 2020 Gcc/Acc 0 -COL7A1 UCSF GRCh37 3 48618560 48618560 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 215 102 281 0 ENST00000328333.8:c.4930C>T p.Pro1644Ser p.P1644S ENST00000328333 NM_000094.3 1644 Cct/Tct 0 -COL7A1 UCSF GRCh37 3 48627934 48627934 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 306 56 477 1 ENST00000328333.8:c.1864C>T p.Pro622Ser p.P622S ENST00000328333 NM_000094.3 622 Cct/Tct 0 -COL7A1 UCSF GRCh37 3 48612931 48612931 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 17 134 0 ENST00000328333.8:c.6021C>T p.Asp2007= p.D2007= ENST00000328333 NM_000094.3 2007 gaC/gaT 0 -COL9A2 UCSF GRCh37 1 40776907 40776907 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 18 157 0 ENST00000372748.3:c.571G>A p.Val191Met p.V191M ENST00000372748 NM_001852.3 191 Gtg/Atg 0 -COLEC11 UCSF GRCh37 2 3691697 3691697 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 20 212 0 ENST00000349077.4:c.805G>A p.Glu269Lys p.E269K ENST00000349077 NM_024027.4 269 Gag/Aag 0 -COMP UCSF GRCh37 19 18895739 18895739 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 9 65 0 ENST00000222271.2:c.1881C>T p.Phe627= p.F627= ENST00000222271 NM_000095.2 627 ttC/ttT 0 -COPS5 UCSF GRCh37 8 67971558 67971558 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 446 77 707 0 ENST00000357849.4:c.266C>T p.Thr89Ile p.T89I ENST00000357849 NM_006837.2 89 aCc/aTc 0 -COPS6 UCSF GRCh37 7 99687306 99687306 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 21 203 0 ENST00000303904.3:c.271T>C p.Ser91Pro p.S91P ENST00000303904 NM_006833.4 91 Tcc/Ccc 0 -COX11 UCSF GRCh37 17 53040774 53040774 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 193 39 348 0 ENST00000299335.3:c.541G>A p.Ala181Thr p.A181T ENST00000299335 NM_004375.3 181 Gca/Aca 0 -CPA4 UCSF GRCh37 7 129950789 129950789 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 6 39 0 ENST00000222482.4:c.956G>A p.Gly319Glu p.G319E ENST00000222482 NM_016352.3 319 gGg/gAg 0 -CPAMD8 UCSF GRCh37 19 17088233 17088233 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 15 50 0 ENST00000443236.1:c.1844G>A p.Gly615Glu p.G615E ENST00000443236 NM_015692.2 615 gGa/gAa 0 -CPN1 UCSF GRCh37 10 101825120 101825120 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 4 95 0 ENST00000370418.3:c.584C>T p.Pro195Leu p.P195L ENST00000370418 NM_001308.2 195 cCc/cTc 0 -CPNE2 UCSF GRCh37 16 57144746 57144746 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 5 115 0 ENST00000290776.8:c.92G>A p.Ser31Asn p.S31N ENST00000290776 NM_152727.5 31 aGt/aAt 0 -CPNE2 UCSF GRCh37 16 57149387 57149387 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 10 168 0 ENST00000290776.8:c.361-1G>A p.X121_splice ENST00000290776 NM_152727.5 0 -CPNE3 UCSF GRCh37 8 87540889 87540889 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 6 57 0 ENST00000198765.4:c.116G>A p.Gly39Asp p.G39D ENST00000198765 39 gGt/gAt 0 -CPNE6 UCSF GRCh37 14 24542228 24542228 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 9 55 1 ENST00000397016.2:c.83G>A p.Cys28Tyr p.C28Y ENST00000397016 NM_001280558.1 28 tGc/tAc 0 -CPNE7 UCSF GRCh37 16 89642466 89642466 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 10 56 0 ENST00000268720.5:c.161G>A p.Gly54Asp p.G54D ENST00000268720 NM_014427.4 54 gGc/gAc 0 -CPS1 UCSF GRCh37 2 211512707 211512707 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 6 63 0 ENST00000233072.5:c.3262G>A p.Asp1088Asn p.D1088N ENST00000233072 NM_001875.4 1088 Gat/Aat 0 -CPSF1 UCSF GRCh37 8 145626860 145626860 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 30 271 0 ENST00000349769.3:c.270G>A p.Lys90= p.K90= ENST00000349769 NM_013291.2 90 aaG/aaA 0 -CPT1C UCSF GRCh37 19 50195544 50195544 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 29 94 0 ENST00000323446.5:c.35C>G p.Pro12Arg p.P12R ENST00000323446 NM_152359.2 12 cCc/cGc 0 -CPXCR1 UCSF GRCh37 X 88009037 88009037 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 26 181 0 ENST00000276127.4:c.622C>T p.Leu208Phe p.L208F ENST00000276127 NM_033048.5 208 Ctc/Ttc 0 -CR2 UCSF GRCh37 1 207648192 207648192 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 4 58 0 ENST00000367058.3:c.2170G>A p.Val724Met p.V724M ENST00000367058 NM_001877.4 724 Gtg/Atg 0 -CRAT UCSF GRCh37 9 131858276 131858276 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 16 142 0 ENST00000318080.2:c.1665+1G>A p.X555_splice ENST00000318080 NM_001257363.1 0 -CRB2 UCSF GRCh37 9 126135458 126135458 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 4 37 0 ENST00000373631.3:c.2648G>A p.Ser883Asn p.S883N ENST00000373631 NM_173689.5 883 aGc/aAc 0 -CREBBP UCSF GRCh37 16 3779736 3779736 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 23 219 0 ENST00000262367.5:c.5312G>A p.Ser1771Asn p.S1771N ENST00000262367 NM_004380.2 1771 aGc/aAc 0 -CRIM1 UCSF GRCh37 2 36775817 36775817 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 381 54 533 0 ENST00000280527.2:c.3084G>A p.Gln1028= p.Q1028= ENST00000280527 NM_016441.2 1028 caG/caA 0 -CRIPT UCSF GRCh37 2 46851351 46851351 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 23 279 0 ENST00000238892.3:c.291G>A p.Lys97= p.K97= ENST00000238892 NM_014171.4 97 aaG/aaA 0 -CRTC1 UCSF GRCh37 19 18870884 18870884 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 10 77 0 ENST00000321949.8:c.732G>A p.Gly244= p.G244= ENST00000321949 NM_015321.2 244 ggG/ggA 0 -CRTC2 UCSF GRCh37 1 153921856 153921856 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 17 61 0 ENST00000368633.1:c.1409T>C p.Val470Ala p.V470A ENST00000368633 NM_181715.2 470 gTc/gCc 0 -CRTC3 UCSF GRCh37 15 91150639 91150639 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 226 38 287 0 ENST00000268184.6:c.506G>A p.Ser169Asn p.S169N ENST00000268184 169 aGt/aAt 0 -CRYZ UCSF GRCh37 1 75190394 75190394 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 9 91 0 ENST00000340866.5:c.111+1G>A p.X37_splice ENST00000340866 NM_001889.3 0 -CSF1 UCSF GRCh37 1 110466112 110466112 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 196 31 272 0 ENST00000329608.6:c.869G>A p.Gly290Glu p.G290E ENST00000329608 NM_000757.5 290 gGg/gAg 0 -CSF2RB UCSF GRCh37 22 37325470 37325470 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 15 37 0 ENST00000403662.3:c.418C>T p.Gln140Ter p.Q140* ENST00000403662 140 Cag/Tag 0 -CSMD1 UCSF GRCh37 8 2836219 2836219 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 222 29 176 0 ENST00000537824.1:c.8481C>T p.Cys2827= p.C2827= ENST00000537824 NM_033225.5 2827 tgC/tgT 0 -CSPP1 UCSF GRCh37 8 68049803 68049803 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 12 121 0 ENST00000262210.5:c.1925G>A p.Gly642Asp p.G642D ENST00000262210 NM_024790.6 642 gGt/gAt 0 -CSRNP2 UCSF GRCh37 12 51457544 51457544 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 16 95 0 ENST00000228515.1:c.1617C>T p.Leu539= p.L539= ENST00000228515 NM_030809.2 539 ctC/ctT 0 -CTNNA2 UCSF GRCh37 2 79878746 79878746 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 12 165 0 ENST00000402739.4:c.64C>T p.Leu22= p.L22= ENST00000402739 NM_001282597.1 22 Cta/Tta 0 -CTR9 UCSF GRCh37 11 10777265 10777265 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 12 64 0 ENST00000361367.2:c.425G>A p.Gly142Asp p.G142D ENST00000361367 NM_014633.3 142 gGt/gAt 0 -CTSL1 UCSF GRCh37 9 90343719 90343719 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 335 194 674 0 ENST00000340342.6:c.616G>A p.Ala206Thr p.A206T ENST00000340342 NM_001257971.1 206 Gca/Aca 0 -CTSO UCSF GRCh37 4 156864339 156864339 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 8 192 0 ENST00000433477.3:c.213G>A p.Gln71= p.Q71= ENST00000433477 NM_001334.2 71 caG/caA 0 -CTTNBP2 UCSF GRCh37 7 117451031 117451031 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 12 101 0 ENST00000160373.3:c.202G>A p.Glu68Lys p.E68K ENST00000160373 NM_033427.2 68 Gag/Aag 0 -CTTNBP2NL UCSF GRCh37 1 112991673 112991673 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 26 134 0 ENST00000271277.6:c.209G>A p.Gly70Asp p.G70D ENST00000271277 NM_018704.2 70 gGc/gAc 0 -CUL4B UCSF GRCh37 X 119680994 119680994 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 4 35 0 ENST00000404115.3:c.827G>A p.Arg276Lys p.R276K ENST00000404115 NM_003588.3 276 aGa/aAa 0 -CUL9 UCSF GRCh37 6 43184060 43184060 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 183 22 250 0 ENST00000252050.4:c.6101G>A p.Gly2034Asp p.G2034D ENST00000252050 NM_015089.2 2034 gGc/gAc 0 -CUX1 UCSF GRCh37 7 101460925 101460925 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 7 55 0 ENST00000292535.7:c.6G>A p.Leu2= p.L2= ENST00000292535 NM_181552.3 2 ttG/ttA 0 -CWC27 UCSF GRCh37 5 64077783 64077783 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 17 110 0 ENST00000381070.3:c.175C>T p.Pro59Ser p.P59S ENST00000381070 NM_005869.2 59 Cct/Tct 0 -CXCL11 UCSF GRCh37 4 76956392 76956392 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 26 207 0 ENST00000306621.3:c.165C>T p.Asn55= p.N55= ENST00000306621 NM_005409.4 55 aaC/aaT 0 -CXCL2 UCSF GRCh37 4 74964383 74964383 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 18 180 0 ENST00000508487.2:c.243G>A p.Gly81= p.G81= ENST00000508487 NM_002089.3 81 ggG/ggA 0 -CXCL3 UCSF GRCh37 4 74902982 74902982 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 24 174 0 ENST00000296026.4:c.321C>T p.Asn107= p.N107= ENST00000296026 NM_002090.2 107 aaC/aaT 0 -CXorf26 UCSF GRCh37 X 75394773 75394773 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 31 120 0 ENST00000373358.3:c.145G>A p.Val49Ile p.V49I ENST00000373358 NM_016500.3 49 Gtc/Atc 0 -CXorf59 UCSF GRCh37 X 36103639 36103639 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 21 114 0 ENST00000313548.4:c.625C>T p.Leu209Phe p.L209F ENST00000313548 NM_173695.2 209 Ctt/Ttt 0 -CXXC1 UCSF GRCh37 18 47811482 47811482 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 279 57 395 0 ENST00000285106.6:c.802G>A p.Glu268Lys p.E268K ENST00000285106 NM_001101654.1 268 Gag/Aag 0 -CYB561 UCSF GRCh37 17 61514898 61514898 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 4 51 0 ENST00000360793.3:c.11G>A p.Gly4Glu p.G4E ENST00000360793 NM_001915.3 4 gGg/gAg 0 -CYB5D1 UCSF GRCh37 17 7761524 7761524 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 5 40 0 ENST00000332439.4:c.72G>A p.Glu24= p.E24= ENST00000332439 NM_144607.4 24 gaG/gaA 0 -CYB5R1 UCSF GRCh37 1 202931713 202931713 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 18 119 0 ENST00000367249.4:c.860C>T p.Ala287Val p.A287V ENST00000367249 NM_016243.2 287 gCc/gTc 0 -CYB5R4 UCSF GRCh37 6 84574011 84574011 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 6 84 0 ENST00000369681.5:c.193C>T p.His65Tyr p.H65Y ENST00000369681 NM_016230.3 65 Cac/Tac 0 -CYFIP1 UCSF GRCh37 15 22993035 22993035 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 3 33 0 ENST00000313077.7:c.2922G>A p.Glu974= p.E974= ENST00000313077 NM_014608.2 974 gaG/gaA 0 -CYLD UCSF GRCh37 16 50810181 50810181 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 4 61 0 ENST00000311559.9:c.1014G>A p.Lys338= p.K338= ENST00000311559 NM_015247.2 338 aaG/aaA 0 -CYP24A1 UCSF GRCh37 20 52789884 52789884 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 310 37 403 0 ENST00000216862.3:c.235C>T p.Leu79Phe p.L79F ENST00000216862 NM_000782.4 79 Ctc/Ttc 0 -CYP3A7 UCSF GRCh37 7 99306796 99306796 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 194 47 338 0 ENST00000336374.2:c.1115G>A p.Arg372Lys p.R372K ENST00000336374 NM_000765.3 372 aGa/aAa 0 -CYP46A1 UCSF GRCh37 14 100187631 100187631 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 11 109 0 ENST00000261835.3:c.1036G>A p.Asp346Asn p.D346N ENST00000261835 NM_006668.1 346 Gac/Aac 0 -CYP4F11 UCSF GRCh37 19 16045165 16045165 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 13 52 0 ENST00000248041.8:c.54G>A p.Pro18= p.P18= ENST00000248041 NM_001128932.1 18 ccG/ccA 0 -CYP4F2 UCSF GRCh37 19 15989703 15989703 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 11 5 17 0 ENST00000221700.6:c.1441G>A p.Val481Ile p.V481I ENST00000221700 NM_001082.3 481 Gtc/Atc 0 -CYTH1 UCSF GRCh37 17 76697834 76697834 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 30 95 0 ENST00000361101.4:c.357-1G>A p.X119_splice ENST00000361101 NM_017456.2 0 -CYTIP UCSF GRCh37 2 158290915 158290915 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 95 427 0 ENST00000264192.3:c.246G>A p.Lys82= p.K82= ENST00000264192 NM_004288.4 82 aaG/aaA 0 -DAAM2 UCSF GRCh37 6 39846317 39846317 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 11 103 0 ENST00000274867.4:c.1498G>A p.Ala500Thr p.A500T ENST00000274867 NM_001201427.1 500 Gct/Act 0 -DACT2 UCSF GRCh37 6 168709332 168709332 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 332 38 437 1 ENST00000366795.3:c.1105G>A p.Gly369Ser p.G369S ENST00000366795 NM_214462.3 369 Ggt/Agt 0 -DAGLA UCSF GRCh37 11 61502445 61502445 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 33 214 0 ENST00000257215.5:c.1099G>A p.Asp367Asn p.D367N ENST00000257215 NM_006133.2 367 Gac/Aac 0 -DAGLA UCSF GRCh37 11 61511131 61511131 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 4 59 0 ENST00000257215.5:c.2299G>A p.Ala767Thr p.A767T ENST00000257215 NM_006133.2 767 Gcg/Acg 0 -DAK UCSF GRCh37 11 61113195 61113195 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 189 32 299 0 ENST00000394900.3:c.1463C>T p.Ala488Val p.A488V ENST00000394900 NM_015533.3 488 gCt/gTt 0 -DAK UCSF GRCh37 11 61108958 61108958 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 24 196 0 ENST00000394900.3:c.537G>A p.Lys179= p.K179= ENST00000394900 NM_015533.3 179 aaG/aaA 0 -DAOA UCSF GRCh37 13 106125018 106125018 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 3 47 0 ENST00000375936.3:c.265C>T p.Pro89Ser p.P89S ENST00000375936 NM_001161812.1 89 Cct/Tct 0 -DAP3 UCSF GRCh37 1 155695795 155695795 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 13 150 0 ENST00000343043.3:c.457C>T p.Leu153= p.L153= ENST00000343043 NM_033657.2 153 Cta/Tta 0 -DARS2 UCSF GRCh37 1 173825858 173825858 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 21 216 0 ENST00000361951.4:c.1729C>T p.Pro577Ser p.P577S ENST00000361951 NM_018122.4 577 Cct/Tct 0 -DAXX UCSF GRCh37 6 33286520 33286520 + stop_retained_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 16 82 0 ENST00000266000.6:c.2223G>A p.Ter741= p.*741= ENST00000266000 741 taG/taA 0 -DBC1 UCSF GRCh37 9 121929590 121929590 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 31 279 0 ENST00000265922.3:c.2058C>T p.Phe686= p.F686= ENST00000265922 NM_014618.2 686 ttC/ttT 0 -DBR1 UCSF GRCh37 3 137881420 137881420 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 9 82 0 ENST00000260803.4:c.946G>A p.Asp316Asn p.D316N ENST00000260803 NM_016216.3 316 Gat/Aat 0 -DBR1 UCSF GRCh37 3 137885932 137885932 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 8 70 0 ENST00000260803.4:c.705G>A p.Met235Ile p.M235I ENST00000260803 NM_016216.3 235 atG/atA 0 -DCAF6 UCSF GRCh37 1 167921037 167921037 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 13 149 0 ENST00000312263.6:c.98-1G>A p.X33_splice ENST00000312263 NM_001017977.2 0 -DCHS1 UCSF GRCh37 11 6645226 6645226 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 210 30 302 0 ENST00000299441.3:c.7681G>A p.Asp2561Asn p.D2561N ENST00000299441 NM_003737.2 2561 Gac/Aac 0 -DCLK2 UCSF GRCh37 4 151145687 151145687 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 16 148 0 ENST00000296550.7:c.1276G>A p.Asp426Asn p.D426N ENST00000296550 NM_001040260.3 426 Gac/Aac 0 -DCLK3 UCSF GRCh37 3 36779519 36779519 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 127 467 0 ENST00000416516.2:c.632C>T p.Thr211Ile p.T211I ENST00000416516 NM_033403.1 211 aCt/aTt 0 -DCLRE1A UCSF GRCh37 10 115603981 115603981 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 12 113 0 ENST00000361384.2:c.2401C>T p.Leu801Phe p.L801F ENST00000361384 NM_014881.4 801 Ctc/Ttc 0 -DCST1 UCSF GRCh37 1 155019721 155019721 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 30 235 0 ENST00000295542.1:c.1545G>A p.Arg515= p.R515= ENST00000295542 NM_152494.3 515 cgG/cgA 0 -DCST2 UCSF GRCh37 1 155002654 155002654 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 12 117 0 ENST00000368424.3:c.1083C>T p.Ser361= p.S361= ENST00000368424 NM_144622.2 361 agC/agT 0 -DCT UCSF GRCh37 13 95114294 95114294 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 26 194 0 ENST00000377028.5:c.1013C>T p.Pro338Leu p.P338L ENST00000377028 NM_001922.3 338 cCc/cTc 0 -DCTN2 UCSF GRCh37 12 57927880 57927880 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 685 80 117 0 ENST00000548249.1:c.525G>A p.Lys175= p.K175= ENST00000548249 NM_001261412.1 175 aaG/aaA 0 -DDIT4 UCSF GRCh37 10 74034840 74034840 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 138 42 330 0 ENST00000307365.3:c.593C>T p.Ser198Phe p.S198F ENST00000307365 NM_019058.2 198 tCt/tTt 0 -DDOST UCSF GRCh37 1 20982629 20982629 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 12 50 0 ENST00000375048.3:c.368G>A p.Gly123Glu p.G123E ENST00000375048 NM_005216.4 123 gGa/gAa 0 -DDX18 UCSF GRCh37 2 118575155 118575155 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 10 49 0 ENST00000263239.2:c.221C>T p.Ser74Phe p.S74F ENST00000263239 NM_006773.3 74 tCt/tTt 0 -DDX39B UCSF GRCh37 6 31498696 31498696 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 20 135 0 ENST00000396172.1:c.1130G>A p.Arg377Lys p.R377K ENST00000396172 NM_004640.6 377 aGa/aAa 0 -DDX39B UCSF GRCh37 6 31504281 31504281 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 460 58 687 0 ENST00000396172.1:c.612G>A p.Gln204= p.Q204= ENST00000396172 NM_004640.6 204 caG/caA 0 -DDX54 UCSF GRCh37 12 113602091 113602091 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 15 124 0 ENST00000306014.5:c.1720-1G>A p.X574_splice ENST00000306014 NM_024072.3 0 -DDX60L UCSF GRCh37 4 169294816 169294816 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 62 491 0 ENST00000260184.7:c.4776+1G>A p.X1592_splice ENST00000260184 NM_001012967.1 0 -DECR2 UCSF GRCh37 16 461398 461398 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 24 146 0 ENST00000219481.5:c.699C>T p.Ala233= p.A233= ENST00000219481 NM_020664.3 233 gcC/gcT 0 -DEFA5 UCSF GRCh37 8 6914189 6914189 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 3 32 0 ENST00000330590.2:c.31C>T p.Leu11Phe p.L11F ENST00000330590 NM_021010.1 11 Ctc/Ttc 0 -DEGS1 UCSF GRCh37 1 224377858 224377858 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 258 53 384 0 ENST00000323699.4:c.662G>A p.Gly221Asp p.G221D ENST00000323699 NM_003676.3 221 gGt/gAt 0 -DENND1A UCSF GRCh37 9 126144555 126144555 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 19 151 0 ENST00000373624.2:c.2186C>T p.Ala729Val p.A729V ENST00000373624 NM_020946.1 729 gCc/gTc 0 -DENND2A UCSF GRCh37 7 140301242 140301242 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 13 103 0 ENST00000275884.6:c.956G>A p.Arg319Lys p.R319K ENST00000275884 319 aGa/aAa 0 -DENND4A UCSF GRCh37 15 65994642 65994642 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 5 61 0 ENST00000431932.2:c.2430+1G>A p.X810_splice ENST00000431932 NM_005848.3 0 -DENND5B UCSF GRCh37 12 31555512 31555512 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 18 168 0 ENST00000389082.5:c.2869C>T p.Pro957Ser p.P957S ENST00000389082 NM_144973.3 957 Cct/Tct 0 -DENND5B UCSF GRCh37 12 31552652 31552652 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 14 126 0 ENST00000389082.5:c.3004C>T p.Leu1002= p.L1002= ENST00000389082 NM_144973.3 1002 Ctg/Ttg 0 -DEPDC7 UCSF GRCh37 11 33054986 33054986 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 243 47 377 0 ENST00000241051.3:c.1521G>A p.Glu507= p.E507= ENST00000241051 NM_001077242.1 507 gaG/gaA 0 -DES UCSF GRCh37 2 220286117 220286117 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 47 154 0 ENST00000373960.3:c.1079C>T p.Ala360Val p.A360V ENST00000373960 NM_001927.3 360 gCc/gTc 0 -DFFB UCSF GRCh37 1 3775390 3775390 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 25 139 0 ENST00000378209.3:c.223G>A p.Gly75Ser p.G75S ENST00000378209 NM_004402.2 75 Ggc/Agc 0 -DHRS4L1 UCSF GRCh37 14 24505775 24505775 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 62 195 0 ENST00000606840.1:n.66C>T *22* ENST00000606840 0 -DHTKD1 UCSF GRCh37 10 12160815 12160815 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 211 40 159 0 ENST00000263035.4:c.2470G>A p.Gly824Arg p.G824R ENST00000263035 NM_018706.6 824 Ggg/Agg 0 -DHX15 UCSF GRCh37 4 24529649 24529649 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 18 165 0 ENST00000336812.4:c.2286C>T p.Ala762= p.A762= ENST00000336812 NM_001358.2 762 gcC/gcT 0 -DHX33 UCSF GRCh37 17 5358557 5358557 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 17 194 0 ENST00000225296.3:c.1070C>T p.Ala357Val p.A357V ENST00000225296 NM_001199699.1 357 gCt/gTt 0 -DHX58 UCSF GRCh37 17 40253810 40253810 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 10 100 0 ENST00000251642.3:c.2006C>T p.Ala669Val p.A669V ENST00000251642 NM_024119.2 669 gCc/gTc 0 -DIDO1 UCSF GRCh37 20 61542417 61542417 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 219 36 321 0 ENST00000266070.4:c.548G>A p.Gly183Glu p.G183E ENST00000266070 NM_033081.2 183 gGg/gAg 0 -DIEXF UCSF GRCh37 1 210010214 210010214 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 219 112 464 0 ENST00000491415.2:c.720G>A p.Lys240= p.K240= ENST00000491415 NM_014388.6 240 aaG/aaA 0 -DIP2B UCSF GRCh37 12 51097957 51097957 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 16 96 0 ENST00000301180.5:c.2360G>A p.Gly787Glu p.G787E ENST00000301180 NM_173602.2 787 gGg/gAg 0 -DIP2C UCSF GRCh37 10 329328 329328 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 8 59 0 ENST00000280886.6:c.4178C>T p.Ser1393Phe p.S1393F ENST00000280886 NM_014974.2 1393 tCc/tTc 0 -DIRAS1 UCSF GRCh37 19 2717666 2717666 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 196 22 154 0 ENST00000323469.4:c.139G>A p.Val47Met p.V47M ENST00000323469 NM_145173.3 47 Gtg/Atg 0 -DIS3L UCSF GRCh37 15 66587480 66587480 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 13 130 0 ENST00000319212.4:c.293+1G>A p.X98_splice ENST00000319212 NM_001143688.1 0 -DLAT UCSF GRCh37 11 111896382 111896382 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 17 110 0 ENST00000280346.6:c.186C>T p.Thr62= p.T62= ENST00000280346 NM_001931.4 62 acC/acT 0 -DLC1 UCSF GRCh37 8 12957533 12957533 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 299 36 333 0 ENST00000276297.4:c.2313G>A p.Arg771= p.R771= ENST00000276297 NM_182643.2 771 cgG/cgA 0 -DMAP1 UCSF GRCh37 1 44684349 44684349 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 240 41 358 0 ENST00000315913.5:c.642G>A p.Lys214= p.K214= ENST00000315913 214 aaG/aaA 0 -DMPK UCSF GRCh37 19 46281768 46281768 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 14 115 0 ENST00000291270.4:c.564G>A p.Arg188= p.R188= ENST00000291270 NM_004409.3 188 cgG/cgA 0 -DMRTA2 UCSF GRCh37 1 50886967 50886967 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 24 220 0 ENST00000404795.3:c.242C>T p.Ala81Val p.A81V ENST00000404795 NM_032110.2 81 gCc/gTc 0 -DMTF1 UCSF GRCh37 7 86822635 86822635 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 21 174 0 ENST00000331242.7:c.1616C>T p.Ala539Val p.A539V ENST00000331242 NM_001142326.1 539 gCt/gTt 0 -DMXL1 UCSF GRCh37 5 118407301 118407301 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 145 20 161 0 ENST00000311085.8:c.37C>T p.Pro13Ser p.P13S ENST00000311085 NM_005509.4 13 Cct/Tct 0 -DNAH1 UCSF GRCh37 3 52386630 52386630 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 8 51 0 ENST00000420323.2:c.2934G>A p.Glu978= p.E978= ENST00000420323 NM_015512.4 978 gaG/gaA 0 -DNAH1 UCSF GRCh37 3 52398656 52398656 + splice_region_variant,synonymous_variant Splice_Region SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 48 140 1 ENST00000420323.2:c.5247T>C p.Asp1749= p.D1749= ENST00000420323 NM_015512.4 1749 gaT/gaC 0 -DNAH10 UCSF GRCh37 12 124413843 124413843 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 474 74 603 0 ENST00000409039.3:c.11974G>A p.Gly3992Arg p.G3992R ENST00000409039 NM_207437.3 3992 Ggg/Agg 0 -DNAH10 UCSF GRCh37 12 124311386 124311386 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 4 50 0 ENST00000409039.3:c.3978G>A p.Lys1326= p.K1326= ENST00000409039 NM_207437.3 1326 aaG/aaA 0 -DNAH2 UCSF GRCh37 17 7636501 7636501 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 604 100 719 0 ENST00000389173.2:c.496C>T p.Pro166Ser p.P166S ENST00000389173 NM_020877.2 166 Ccc/Tcc 0 -DNAH2 UCSF GRCh37 17 7696469 7696469 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 274 48 460 0 ENST00000389173.2:c.7515G>A p.Trp2505Ter p.W2505* ENST00000389173 NM_020877.2 2505 tgG/tgA 0 -DNAH2 UCSF GRCh37 17 7663129 7663129 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 552 79 775 0 ENST00000389173.2:c.2658G>A p.Leu886= p.L886= ENST00000389173 NM_020877.2 886 ctG/ctA 0 -DNAH6 UCSF GRCh37 2 84774620 84774620 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 155 21 254 0 ENST00000237449.6:c.1070C>T p.Thr357Ile p.T357I ENST00000237449 357 aCa/aTa 0 -DNAH8 UCSF GRCh37 6 38840477 38840477 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 26 247 0 ENST00000359357.3:c.6505G>A p.Gly2169Ser p.G2169S ENST00000359357 2169 Ggc/Agc 0 -DNAH8 UCSF GRCh37 6 38690630 38690630 + upstream_gene_variant 5'Flank SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 6 43 0 ENST00000359357 0 -DNAJB1 UCSF GRCh37 19 14627575 14627575 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 16 113 0 ENST00000254322.2:c.495C>T p.Thr165= p.T165= ENST00000254322 NM_006145.1 165 acC/acT 0 -DNAJB7 UCSF GRCh37 22 41257988 41257988 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 19 183 0 ENST00000307221.4:c.11A>G p.Tyr4Cys p.Y4C ENST00000307221 NM_145174.1 4 tAc/tGc 0 -DNAJC2 UCSF GRCh37 7 102957322 102957322 + stop_gained Nonsense_Mutation SNP A A C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 39 133 0 ENST00000379263.3:c.1382T>G p.Leu461Ter p.L461* ENST00000379263 NM_014377.1 461 tTa/tGa 0 -DNAJC6 UCSF GRCh37 1 65855296 65855296 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 12 126 0 ENST00000395325.3:c.1283C>T p.Ser428Phe p.S428F ENST00000395325 NM_014787.3 428 tCt/tTt 0 -DNASE1 UCSF GRCh37 16 3707321 3707321 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 8 47 0 ENST00000246949.5:c.683C>T p.Pro228Leu p.P228L ENST00000246949 NM_005223.3 228 cCc/cTc 0 -DNHD1 UCSF GRCh37 11 6540976 6540976 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 59 163 0 ENST00000254579.6:c.1539G>A p.Trp513Ter p.W513* ENST00000254579 NM_144666.2 513 tgG/tgA 0 -DNM2 UCSF GRCh37 19 10934513 10934513 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 301 35 308 0 ENST00000355667.6:c.1831G>A p.Glu611Lys p.E611K ENST00000355667 NM_001005360.2 611 Gaa/Aaa 0 -DOCK11 UCSF GRCh37 X 117707891 117707891 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 16 92 0 ENST00000276202.7:c.1299C>T p.Thr433= p.T433= ENST00000276202 NM_144658.3 433 acC/acT 0 -DOCK3 UCSF GRCh37 3 51112786 51112786 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 11 103 0 ENST00000266037.9:c.465-1G>A p.X155_splice ENST00000266037 NM_004947.4 0 -DOCK5 UCSF GRCh37 8 25168013 25168013 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 198 24 213 0 ENST00000276440.7:c.1283C>T p.Ala428Val p.A428V ENST00000276440 NM_024940.6 428 gCc/gTc 0 -DOK2 UCSF GRCh37 8 21767047 21767047 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 49 172 0 ENST00000276420.4:c.1014C>T p.Pro338= p.P338= ENST00000276420 NM_003974.2 338 ccC/ccT 0 -DOLPP1 UCSF GRCh37 9 131847825 131847825 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 32 94 0 ENST00000372546.4:c.391C>T p.Leu131= p.L131= ENST00000372546 NM_020438.4 131 Ctg/Ttg 0 -DPEP3 UCSF GRCh37 16 68012174 68012174 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 10 119 0 ENST00000268793.4:c.757C>T p.Pro253Ser p.P253S ENST00000268793 NM_022357.3 253 Cca/Tca 0 -DPF2 UCSF GRCh37 11 65113252 65113252 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 12 110 0 ENST00000528416.1:c.753C>T p.Ser251= p.S251= ENST00000528416 NM_006268.4 251 tcC/tcT 0 -DPP8 UCSF GRCh37 15 65777486 65777486 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 18 234 0 ENST00000341861.5:c.1016C>T p.Pro339Leu p.P339L ENST00000341861 NM_197960.2 339 cCt/cTt 0 -DPP9 UCSF GRCh37 19 4704019 4704019 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 11 99 0 ENST00000598800.1:c.561C>T p.Pro187= p.P187= ENST00000598800 187 ccC/ccT 0 -DRD1 UCSF GRCh37 5 174869973 174869973 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 12 156 0 ENST00000393752.2:c.130G>A p.Val44Ile p.V44I ENST00000393752 NM_000794.3 44 Gtc/Atc 0 -DROSHA UCSF GRCh37 5 31435970 31435970 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 19 67 0 ENST00000344624.3:c.2944G>A p.Val982Ile p.V982I ENST00000344624 982 Gtc/Atc 0 -DSCAM UCSF GRCh37 21 41496237 41496237 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 7 60 0 ENST00000400454.1:c.3581G>A p.Gly1194Asp p.G1194D ENST00000400454 NM_001271534.1 1194 gGt/gAt 0 -DSCAM UCSF GRCh37 21 41711201 41711201 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 20 186 0 ENST00000400454.1:c.1352G>A p.Gly451Asp p.G451D ENST00000400454 NM_001271534.1 451 gGc/gAc 0 -DSCAM UCSF GRCh37 21 41710220 41710220 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 25 250 0 ENST00000400454.1:c.1591C>T p.Pro531Ser p.P531S ENST00000400454 NM_001271534.1 531 Ccg/Tcg 0 -DSCAM UCSF GRCh37 21 41725552 41725552 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 18 111 0 ENST00000400454.1:c.774G>A p.Trp258Ter p.W258* ENST00000400454 NM_001271534.1 258 tgG/tgA 0 -DSG2 UCSF GRCh37 18 29121189 29121189 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 17 87 0 ENST00000261590.8:c.1913G>A p.Gly638Glu p.G638E ENST00000261590 NM_001943.3 638 gGa/gAa 0 -DST UCSF GRCh37 6 56334743 56334743 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 34 277 0 ENST00000244364.6:c.14620G>A p.Val4874Ile p.V4874I ENST00000244364 NM_015548.4 4874 Gta/Ata 0 -DSTYK UCSF GRCh37 1 205126440 205126440 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 174 24 237 0 ENST00000367162.3:c.2313G>A p.Gln771= p.Q771= ENST00000367162 NM_015375.2 771 caG/caA 0 -DTX1 UCSF GRCh37 12 113515352 113515352 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 22 213 0 ENST00000257600.3:c.383C>T p.Thr128Ile p.T128I ENST00000257600 NM_004416.2 128 aCc/aTc 0 -DUOXA1 UCSF GRCh37 15 45410176 45410176 + downstream_gene_variant 3'Flank SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 5 71 0 ENST00000560572 NM_001276266.1 0 -DUS4L UCSF GRCh37 7 107211613 107211613 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 8 52 0 ENST00000265720.3:c.140G>A p.Arg47Lys p.R47K ENST00000265720 NM_001270419.1 47 aGa/aAa 0 -DUS4L UCSF GRCh37 7 107217867 107217867 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 59 236 0 ENST00000265720.3:c.816G>A p.Gly272= p.G272= ENST00000265720 NM_001270419.1 272 ggG/ggA 0 -DUSP13B UCSF GRCh37 10 76854607 76854607 + 3_prime_UTR_variant 3'UTR SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 4 47 0 ENST00000372702.3:c.*732G>A *244* ENST00000372702 0 -DUSP6 UCSF GRCh37 12 89745677 89745677 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 263 30 358 0 ENST00000279488.7:c.140C>T p.Ser47Leu p.S47L ENST00000279488 NM_001946.2 47 tCg/tTg 0 -DVL1 UCSF GRCh37 1 1275467 1275467 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 6 44 0 ENST00000378888.5:c.860G>A p.Gly287Glu p.G287E ENST00000378888 287 gGg/gAg 0 -DVL3 UCSF GRCh37 3 183888396 183888396 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 289 56 452 1 ENST00000313143.3:c.2004G>A p.Met668Ile p.M668I ENST00000313143 NM_004423.3 668 atG/atA 0 -DVL3 UCSF GRCh37 3 183882976 183882976 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 27 171 0 ENST00000313143.3:c.675G>A p.Lys225= p.K225= ENST00000313143 NM_004423.3 225 aaG/aaA 0 -DYNC1H1 UCSF GRCh37 14 102452456 102452456 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 234 34 322 0 ENST00000360184.4:c.1894G>A p.Ala632Thr p.A632T ENST00000360184 NM_001376.4 632 Gct/Act 0 -DYNC2H1 UCSF GRCh37 11 103005056 103005056 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 25 185 0 ENST00000375735.2:c.2113G>A p.Val705Ile p.V705I ENST00000375735 NM_001080463.1 705 Gtt/Att 0 -DYNC2H1 UCSF GRCh37 11 103107235 103107235 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 13 157 0 ENST00000375735.2:c.9786C>T p.Asp3262= p.D3262= ENST00000375735 NM_001080463.1 3262 gaC/gaT 0 -DYSF UCSF GRCh37 2 71795384 71795384 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 132 23 235 1 ENST00000258104.3:c.2726G>A p.Gly909Asp p.G909D ENST00000258104 NM_003494.3 909 gGc/gAc 0 -DYSF UCSF GRCh37 2 71766326 71766326 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 257 40 386 0 ENST00000258104.3:c.1437C>T p.Tyr479= p.Y479= ENST00000258104 NM_003494.3 479 taC/taT 0 -DYX1C1 UCSF GRCh37 15 55790479 55790479 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 74 232 0 ENST00000321149.3:c.49G>A p.Val17Ile p.V17I ENST00000321149 NM_130810.3 17 Gtc/Atc 0 -DYX1C1 UCSF GRCh37 15 55790464 55790464 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 145 24 218 0 ENST00000321149.3:c.64C>T p.Pro22Ser p.P22S ENST00000321149 NM_130810.3 22 Ccc/Tcc 0 -E2F2 UCSF GRCh37 1 23848374 23848374 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 24 176 0 ENST00000361729.2:c.533G>A p.Gly178Asp p.G178D ENST00000361729 NM_004091.3 178 gGc/gAc 0 -E2F3 UCSF GRCh37 6 20490487 20490487 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 155 28 262 0 ENST00000346618.3:c.1224G>A p.Gln408= p.Q408= ENST00000346618 NM_001949.4 408 caG/caA 0 -E2F7 UCSF GRCh37 12 77421803 77421803 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 160 29 268 0 ENST00000322886.7:c.2000G>A p.Gly667Glu p.G667E ENST00000322886 NM_203394.2 667 gGa/gAa 0 -E2F7 UCSF GRCh37 12 77423701 77423701 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 10 57 0 ENST00000322886.7:c.1794G>A p.Glu598= p.E598= ENST00000322886 NM_203394.2 598 gaG/gaA 0 -EARS2 UCSF GRCh37 16 23540917 23540917 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 10 114 0 ENST00000449606.1:c.1258G>A p.Val420Ile p.V420I ENST00000449606 NM_001083614.1 420 Gta/Ata 0 -EARS2 UCSF GRCh37 16 23563625 23563625 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 36 116 0 ENST00000449606.1:c.140G>A p.Gly47Asp p.G47D ENST00000449606 NM_001083614.1 47 gGc/gAc 0 -EBAG9 UCSF GRCh37 8 110573142 110573142 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 20 206 0 ENST00000337573.5:c.505G>A p.Ala169Thr p.A169T ENST00000337573 NM_004215.4 169 Gca/Aca 0 -ECM2 UCSF GRCh37 9 95277008 95277008 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 303 47 436 0 ENST00000344604.5:c.959G>A p.Cys320Tyr p.C320Y ENST00000344604 NM_001393.3 320 tGc/tAc 0 -EDC3 UCSF GRCh37 15 74925151 74925151 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 65 180 0 ENST00000315127.4:c.1329C>T p.Asp443= p.D443= ENST00000315127 NM_025083.3 443 gaC/gaT 0 -EEF2 UCSF GRCh37 19 3979880 3979880 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 7 52 0 ENST00000309311.6:c.1531G>A p.Ala511Thr p.A511T ENST00000309311 NM_001961.3 511 Gcc/Acc 0 -EEFSEC UCSF GRCh37 3 128060196 128060196 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 164 20 211 0 ENST00000254730.6:c.907G>A p.Val303Met p.V303M ENST00000254730 NM_021937.3 303 Gtg/Atg 0 -EFCAB5 UCSF GRCh37 17 28380852 28380852 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 338 47 486 0 ENST00000394835.3:c.1880G>A p.Gly627Glu p.G627E ENST00000394835 NM_198529.3 627 gGa/gAa 0 -EFEMP1 UCSF GRCh37 2 56094295 56094295 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 12 140 0 ENST00000355426.3:c.1395G>A p.Leu465= p.L465= ENST00000355426 465 ctG/ctA 0 -EFNB1 UCSF GRCh37 X 68058563 68058563 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 7 72 0 ENST00000204961.4:c.232C>T p.Leu78= p.L78= ENST00000204961 NM_004429.4 78 Ctg/Ttg 0 -EFNB3 UCSF GRCh37 17 7608984 7608984 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 19 141 0 ENST00000226091.2:c.68G>A p.Gly23Glu p.G23E ENST00000226091 NM_001406.3 23 gGg/gAg 0 -EGF UCSF GRCh37 4 110884380 110884380 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 15 87 0 ENST00000265171.5:c.1364G>A p.Ser455Asn p.S455N ENST00000265171 NM_001963.4 455 aGc/aAc 0 -EGFL7 UCSF GRCh37 9 139564675 139564675 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 19 94 1 ENST00000308874.7:c.464C>T p.Thr155Ile p.T155I ENST00000308874 155 aCc/aTc 0 -EGR2 UCSF GRCh37 10 64574184 64574184 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 7 70 0 ENST00000242480.3:c.214G>A p.Asp72Asn p.D72N ENST00000242480 NM_001136177.1 72 Gat/Aat 0 -EHHADH UCSF GRCh37 3 184922287 184922287 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 20 116 0 ENST00000231887.3:c.827G>A p.Arg276Lys p.R276K ENST00000231887 NM_001166415.1 276 aGg/aAg 0 -EHHADH UCSF GRCh37 3 184922469 184922469 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 37 230 0 ENST00000231887.3:c.645G>A p.Glu215= p.E215= ENST00000231887 NM_001166415.1 215 gaG/gaA 0 -EHMT2 UCSF GRCh37 6 31860229 31860229 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 38 123 0 ENST00000375537.4:c.819C>T p.Tyr273= p.Y273= ENST00000375537 NM_006709.3 273 taC/taT 0 -EIF2B4 UCSF GRCh37 2 27590049 27590049 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 195 31 268 0 ENST00000347454.4:c.905C>T p.Ala302Val p.A302V ENST00000347454 NM_015636.3 302 gCa/gTa 0 -EIF5A UCSF GRCh37 17 7210382 7210382 + upstream_gene_variant 5'Flank SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 39 78 0 ENST00000336458 NM_001970.4 0 -ELF5 UCSF GRCh37 11 34515099 34515099 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 167 22 251 0 ENST00000312319.2:c.312G>A p.Gln104= p.Q104= ENST00000312319 NM_001243081.1 104 caG/caA 0 -ELMO2 UCSF GRCh37 20 44999118 44999118 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 315 49 415 0 ENST00000290246.6:c.1848C>T p.Pro616= p.P616= ENST00000290246 NM_133171.3 616 ccC/ccT 0 -ELMO3 UCSF GRCh37 16 67237579 67237579 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 40 376 0 ENST00000393997.2:c.2121G>A p.Trp707Ter p.W707* ENST00000393997 NM_024712.3 707 tgG/tgA 0 -ELP3 UCSF GRCh37 8 27987165 27987165 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 22 93 0 ENST00000256398.8:c.764C>T p.Ala255Val p.A255V ENST00000256398 NM_018091.5 255 gCt/gTt 0 -EMILIN3 UCSF GRCh37 20 39989948 39989948 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 12 119 0 ENST00000332312.3:c.2261C>T p.Ala754Val p.A754V ENST00000332312 NM_052846.1 754 gCc/gTc 0 -EML3 UCSF GRCh37 11 62371283 62371283 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 366 49 436 1 ENST00000394773.2:c.2175C>T p.His725= p.H725= ENST00000394773 NM_153265.2 725 caC/caT 0 -EMR3 UCSF GRCh37 19 14755077 14755077 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 10 27 0 ENST00000253673.5:c.893G>A p.Ser298Asn p.S298N ENST00000253673 NM_032571.3 298 aGt/aAt 0 -ENPEP UCSF GRCh37 4 111430940 111430940 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 17 127 0 ENST00000265162.5:c.1171G>A p.Val391Ile p.V391I ENST00000265162 NM_001977.3 391 Gtt/Att 0 -ENTPD5 UCSF GRCh37 14 74436818 74436818 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 12 189 0 ENST00000334696.6:c.1095C>T p.Asn365= p.N365= ENST00000334696 NM_001249.2 365 aaC/aaT 0 -ENTPD8 UCSF GRCh37 9 140332632 140332632 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 5 42 0 ENST00000371506.2:c.106C>T p.Leu36Phe p.L36F ENST00000371506 NM_001033113.1 36 Ctc/Ttc 0 -EOMES UCSF GRCh37 3 27761734 27761734 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 15 133 0 ENST00000295743.4:c.964G>A p.Ala322Thr p.A322T ENST00000295743 NM_005442.3 322 Gcg/Acg 0 -EPC2 UCSF GRCh37 2 149542240 149542240 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 313 41 450 0 ENST00000258484.6:c.2021C>T p.Thr674Ile p.T674I ENST00000258484 NM_015630.3 674 aCc/aTc 0 -EPC2 UCSF GRCh37 2 149526793 149526793 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 23 210 0 ENST00000258484.6:c.1214G>A p.Gly405Glu p.G405E ENST00000258484 NM_015630.3 405 gGa/gAa 0 -EPHA5 UCSF GRCh37 4 66467870 66467870 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 28 242 0 ENST00000273854.3:c.399C>T p.Thr133= p.T133= ENST00000273854 NM_004439.5 133 acC/acT 0 -EPHA7 UCSF GRCh37 6 94124467 94124470 + protein_altering_variant In_Frame_Del DEL TTAG TTAG A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 0 ENST00000369303.4:c.113_116delinsT p.Ser38_Lys39delinsLeu p.S38_K39delinsL ENST00000369303 NM_004440.3 38 tCTAAa/tTa 0 -EPHB3 UCSF GRCh37 3 184298276 184298276 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 134 22 170 0 ENST00000330394.2:c.2259C>T p.Asn753= p.N753= ENST00000330394 NM_004443.3 753 aaC/aaT 0 -EPHB4 UCSF GRCh37 7 100402857 100402857 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 101 342 1 ENST00000358173.3:c.2765G>A p.Gly922Glu p.G922E ENST00000358173 NM_004444.4 922 gGa/gAa 0 -EPHB6 UCSF GRCh37 7 142566777 142566777 + synonymous_variant Silent SNP A A T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 39 107 0 ENST00000392957.2:c.2334A>T p.Gly778= p.G778= ENST00000392957 NM_004445.4 778 ggA/ggT 0 -EPM2AIP1 UCSF GRCh37 3 37033028 37033028 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 401 57 586 0 ENST00000322716.5:c.1541C>T p.Thr514Ile p.T514I ENST00000322716 NM_014805.3 514 aCt/aTt 0 -EPOR UCSF GRCh37 19 11494794 11494794 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 15 116 0 ENST00000222139.6:c.90C>T p.Leu30= p.L30= ENST00000222139 NM_000121.3 30 ctC/ctT 0 -EPS15 UCSF GRCh37 1 51829613 51829613 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 17 195 0 ENST00000371733.3:c.2284G>A p.Val762Ile p.V762I ENST00000371733 NM_001981.2 762 Gtc/Atc 0 -EPS15L1 UCSF GRCh37 19 16539545 16539545 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 9 89 0 ENST00000248070.6:c.526G>A p.Asp176Asn p.D176N ENST00000248070 NM_021235.2 176 Gat/Aat 0 -ERBB2 UCSF GRCh37 17 37883081 37883081 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 88 10 97 0 ENST00000269571.5:c.2984G>A p.Gly995Asp p.G995D ENST00000269571 995 gGc/gAc 0 -ERBB3 UCSF GRCh37 12 56489094 56489094 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 25 156 0 ENST00000267101.3:c.1913G>A p.Gly638Asp p.G638D ENST00000267101 NM_001982.3 638 gGc/gAc 0 -ERCC2 UCSF GRCh37 19 45872002 45872002 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 22 241 0 ENST00000391945.4:c.247-1G>A p.X83_splice ENST00000391945 NM_000400.3 0 -ERCC6L UCSF GRCh37 X 71427460 71427460 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 47 177 0 ENST00000334463.3:c.1157C>T p.Ser386Phe p.S386F ENST00000334463 NM_017669.2 386 tCt/tTt 0 -ERG UCSF GRCh37 21 39775600 39775600 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 23 176 1 ENST00000398919.2:c.441G>A p.Arg147= p.R147= ENST00000398919 NM_001243428.1 147 cgG/cgA 0 -ERN1 UCSF GRCh37 17 62130215 62130215 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 11 79 0 ENST00000433197.3:c.2178C>T p.Ser726= p.S726= ENST00000433197 NM_001433.3 726 agC/agT 0 -ESF1 UCSF GRCh37 20 13740436 13740438 + inframe_deletion In_Frame_Del DEL TTC TTC - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 0 ENST00000202816.1:c.1729_1731del p.Glu577del p.E577del ENST00000202816 NM_001276380.1 577 GAA/- 0 -ESPN UCSF GRCh37 1 6500850 6500850 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 5 20 0 ENST00000377828.1:c.840C>T p.Ala280= p.A280= ENST00000377828 NM_031475.2 280 gcC/gcT 0 -ESR1 UCSF GRCh37 6 152129195 152129195 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 366 75 553 0 ENST00000206249.3:c.148G>A p.Ala50Thr p.A50T ENST00000206249 NM_000125.3 50 Gcc/Acc 0 -ETV5 UCSF GRCh37 3 185797664 185797664 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 4 32 0 ENST00000306376.5:c.592C>T p.His198Tyr p.H198Y ENST00000306376 NM_004454.2 198 Cat/Tat 0 -EVPL UCSF GRCh37 17 74006574 74006574 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 23 231 0 ENST00000301607.3:c.2712C>T p.Ser904= p.S904= ENST00000301607 NM_001988.2 904 tcC/tcT 0 -EVX1 UCSF GRCh37 7 27285969 27285969 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 73 250 0 ENST00000496902.4:c.1149C>T p.Thr383= p.T383= ENST00000496902 383 acC/acT 0 -EXD2 UCSF GRCh37 14 69704378 69704378 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 238 41 338 0 ENST00000312994.5:c.1379C>T p.Thr460Ile p.T460I ENST00000312994 460 aCc/aTc 0 -EXOC5 UCSF GRCh37 14 57675449 57675449 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 10 69 0 ENST00000413566.2:c.2005G>A p.Asp669Asn p.D669N ENST00000413566 NM_006544.3 669 Gat/Aat 0 -EXOSC1 UCSF GRCh37 10 99200978 99200978 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 12 196 0 ENST00000370902.3:c.261C>T p.Ile87= p.I87= ENST00000370902 NM_016046.3 87 atC/atT 0 -EXOSC2 UCSF GRCh37 9 133570909 133570909 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 25 179 0 ENST00000372358.5:c.153G>A p.Lys51= p.K51= ENST00000372358 51 aaG/aaA 0 -F12 UCSF GRCh37 5 176829423 176829423 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 19 147 0 ENST00000253496.3:c.1718C>T p.Ala573Val p.A573V ENST00000253496 NM_000505.3 573 gCt/gTt 0 -F8 UCSF GRCh37 X 154132241 154132241 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 49 191 0 ENST00000360256.4:c.5938C>T p.His1980Tyr p.H1980Y ENST00000360256 NM_000132.3 1980 Cat/Tat 0 -F9 UCSF GRCh37 X 138644119 138644119 + missense_variant Missense_Mutation SNP A A T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 17 112 0 ENST00000218099.2:c.1275A>T p.Leu425Phe p.L425F ENST00000218099 NM_000133.3 425 ttA/ttT 0 -FAF2 UCSF GRCh37 5 175925919 175925919 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 20 102 0 ENST00000261942.6:c.844G>A p.Glu282Lys p.E282K ENST00000261942 NM_014613.2 282 Gaa/Aaa 0 -FAF2 UCSF GRCh37 5 175923506 175923506 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 22 190 0 ENST00000261942.6:c.681G>A p.Glu227= p.E227= ENST00000261942 NM_014613.2 227 gaG/gaA 0 -FAIM UCSF GRCh37 3 138340249 138340249 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 8 65 0 ENST00000393034.2:c.-22C>T p.X8_splice ENST00000393034 NM_018147.3 0 -FAM111B UCSF GRCh37 11 58892470 58892470 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 190 29 292 0 ENST00000343597.3:c.900G>A p.Gln300= p.Q300= ENST00000343597 NM_198947.3 300 caG/caA 0 -FAM120A UCSF GRCh37 9 96214591 96214591 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 23 142 0 ENST00000277165.6:c.394C>T p.Pro132Ser p.P132S ENST00000277165 NM_014612.3 132 Ccg/Tcg 0 -FAM123B UCSF GRCh37 X 63412254 63412254 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 32 152 0 ENST00000330258.3:c.913G>A p.Val305Met p.V305M ENST00000330258 NM_152424.3 305 Gtg/Atg 0 -FAM124A UCSF GRCh37 13 51854925 51854925 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 24 195 0 ENST00000322475.8:c.1174G>A p.Ala392Thr p.A392T ENST00000322475 NM_001242312.1 392 Gca/Aca 0 -FAM125B UCSF GRCh37 9 129102882 129102882 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 27 189 0 ENST00000361171.3:c.177G>A p.Arg59= p.R59= ENST00000361171 NM_033446.2 59 cgG/cgA 0 -FAM129B UCSF GRCh37 9 130270371 130270371 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 14 121 0 ENST00000373312.3:c.1542+1G>A p.X514_splice ENST00000373312 NM_022833.2 0 -FAM13A UCSF GRCh37 4 89658648 89658648 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 171 30 231 0 ENST00000264344.5:c.2621C>T p.Thr874Ile p.T874I ENST00000264344 NM_014883.3 874 aCt/aTt 0 -FAM13A UCSF GRCh37 4 89950686 89950686 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 20 136 0 ENST00000264344.5:c.142C>T p.Leu48Phe p.L48F ENST00000264344 NM_014883.3 48 Ctt/Ttt 0 -FAM150A UCSF GRCh37 8 53477802 53477802 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 7 30 0 ENST00000358543.4:c.15G>A p.Lys5= p.K5= ENST00000358543 NM_207413.3 5 aaG/aaA 0 -FAM159B UCSF GRCh37 5 63986544 63986544 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 19 139 0 ENST00000389074.5:c.94G>A p.Ala32Thr p.A32T ENST00000389074 NM_001164442.1 32 Gcg/Acg 0 -FAM161A UCSF GRCh37 2 62054254 62054254 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 27 255 0 ENST00000405894.3:c.1823C>T p.Thr608Ile p.T608I ENST00000405894 NM_032180.2 608 aCt/aTt 0 -FAM169A UCSF GRCh37 5 74137408 74137408 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 17 91 0 ENST00000389156.4:c.94C>T p.Pro32Ser p.P32S ENST00000389156 NM_015566.2 32 Cct/Tct 0 -FAM178B UCSF GRCh37 2 97637851 97637851 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 8 78 0 ENST00000417561.3:c.795C>T p.Phe265= p.F265= ENST00000417561 265 ttC/ttT 0 -FAM179B UCSF GRCh37 14 45478150 45478150 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 22 194 0 ENST00000361577.3:c.2939C>T p.Ala980Val p.A980V ENST00000361577 NM_015091.2 980 gCa/gTa 0 -FAM184A UCSF GRCh37 6 119345658 119345658 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 23 261 0 ENST00000338891.7:c.480G>A p.Glu160= p.E160= ENST00000338891 NM_024581.4 160 gaG/gaA 0 -FAM184B UCSF GRCh37 4 17654508 17654508 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 12 125 0 ENST00000265018.3:c.2136G>A p.Arg712= p.R712= ENST00000265018 NM_015688.1 712 agG/agA 0 -FAM193A UCSF GRCh37 4 2695364 2695364 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 230 40 336 1 ENST00000324666.5:c.1982C>T p.Ala661Val p.A661V ENST00000324666 NM_001256666.1 661 gCc/gTc 0 -FAM19A1 UCSF GRCh37 3 68466434 68466434 + synonymous_variant Silent SNP A A C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 11 9 29 0 ENST00000478136.1:c.123A>C p.Gly41= p.G41= ENST00000478136 NM_213609.3 41 ggA/ggC 0 -FAM20A UCSF GRCh37 17 66551789 66551789 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 13 113 0 ENST00000592554.1:c.500G>A p.Gly167Asp p.G167D ENST00000592554 NM_001243746.1 167 gGt/gAt 0 -FAM40A UCSF GRCh37 1 110582044 110582044 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 15 152 0 ENST00000369795.3:c.488C>T p.Ala163Val p.A163V ENST00000369795 NM_033088.3 163 gCa/gTa 0 -FAM69A UCSF GRCh37 1 93309726 93309726 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 116 25 154 0 ENST00000370310.4:c.501C>T p.Leu167= p.L167= ENST00000370310 NM_001006605.4 167 ctC/ctT 0 -FAM69B UCSF GRCh37 9 139617667 139617667 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 7 71 0 ENST00000371692.4:c.737C>T p.Pro246Leu p.P246L ENST00000371692 NM_152421.3 246 cCc/cTc 0 -GARIN5A UCSF GRCh37 19 50979499 50979499 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 160 27 265 0 ENST00000600100.1:c.147C>T p.Leu49= p.L49= ENST00000600100 49 ctC/ctT 0 -FAM83G UCSF GRCh37 17 18874698 18874698 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 18 179 0 ENST00000345041.4:c.2446G>A p.Ala816Thr p.A816T ENST00000345041 816 Gcc/Acc 0 -FAM89A UCSF GRCh37 1 231175885 231175885 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 9 38 0 ENST00000366654.4:c.73C>T p.Pro25Ser p.P25S ENST00000366654 NM_198552.2 25 Ccc/Tcc 0 -FANCL UCSF GRCh37 2 58390002 58390002 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 3 34 0 ENST00000233741.4:c.902C>T p.Ser301Phe p.S301F ENST00000233741 NM_018062.3 301 tCt/tTt 0 -FAR2 UCSF GRCh37 12 29486702 29486702 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 16 168 0 ENST00000182377.4:c.1523G>A p.Arg508Lys p.R508K ENST00000182377 NM_018099.4 508 aGa/aAa 0 -FASN UCSF GRCh37 17 80037425 80037425 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 176 29 208 0 ENST00000306749.2:c.7206C>T p.Asp2402= p.D2402= ENST00000306749 NM_004104.4 2402 gaC/gaT 0 -FASTKD1 UCSF GRCh37 2 170393787 170393787 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 11 178 0 ENST00000453153.2:c.2138G>A p.Gly713Glu p.G713E ENST00000453153 NM_024622.4 713 gGa/gAa 0 -FAT1 UCSF GRCh37 4 187542680 187542680 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 20 235 0 ENST00000441802.2:c.5060G>A p.Gly1687Glu p.G1687E ENST00000441802 NM_005245.3 1687 gGg/gAg 0 -FAT2 UCSF GRCh37 5 150886790 150886790 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 254 37 380 0 ENST00000261800.5:c.12442C>T p.Leu4148Phe p.L4148F ENST00000261800 NM_001447.2 4148 Ctc/Ttc 0 -FAT2 UCSF GRCh37 5 150908849 150908849 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 15 64 0 ENST00000261800.5:c.9916A>G p.Thr3306Ala p.T3306A ENST00000261800 NM_001447.2 3306 Aca/Gca 0 -FAT3 UCSF GRCh37 11 92533914 92533914 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 8 61 0 ENST00000298047.6:c.7735G>A p.Gly2579Arg p.G2579R ENST00000298047 2579 Ggg/Agg 0 -FAT4 UCSF GRCh37 4 126355424 126355424 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 43 375 0 ENST00000394329.3:c.7043G>A p.Gly2348Glu p.G2348E ENST00000394329 NM_024582.4 2348 gGa/gAa 0 -FAT4 UCSF GRCh37 4 126241448 126241448 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 243 87 688 0 ENST00000394329.3:c.3882C>T p.Pro1294= p.P1294= ENST00000394329 NM_024582.4 1294 ccC/ccT 0 -FBN3 UCSF GRCh37 19 8174197 8174197 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 11 68 0 ENST00000270509.2:c.4532G>A p.Gly1511Glu p.G1511E ENST00000270509 NM_032447.3 1511 gGa/gAa 0 -FBP1 UCSF GRCh37 9 97372255 97372255 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 9 82 0 ENST00000375326.4:c.515C>T p.Thr172Ile p.T172I ENST00000375326 NM_000507.3 172 aCc/aTc 0 -FBXL14 UCSF GRCh37 12 1702849 1702849 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 57 124 0 ENST00000339235.3:c.384G>A p.Lys128= p.K128= ENST00000339235 NM_152441.2 128 aaG/aaA 0 -FBXL15 UCSF GRCh37 10 104181808 104181808 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 22 95 0 ENST00000224862.3:c.472C>T p.Leu158= p.L158= ENST00000224862 NM_024326.3 158 Ctg/Ttg 0 -FBXO24 UCSF GRCh37 7 100190601 100190601 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 10 43 0 ENST00000241071.6:c.754G>A p.Val252Ile p.V252I ENST00000241071 NM_033506.2 252 Gtt/Att 0 -FBXO38 UCSF GRCh37 5 147785859 147785859 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 226 39 379 0 ENST00000340253.5:c.770G>A p.Gly257Asp p.G257D ENST00000340253 NM_030793.4 257 gGc/gAc 0 -FBXO40 UCSF GRCh37 3 121340471 121340471 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 207 26 312 0 ENST00000338040.4:c.195C>T p.Cys65= p.C65= ENST00000338040 NM_016298.3 65 tgC/tgT 0 -FBXO41 UCSF GRCh37 2 73496421 73496421 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 11 97 0 ENST00000295133.5:c.521C>T p.Ala174Val p.A174V ENST00000295133 NM_001080410.2 174 gCt/gTt 0 -FBXO8 UCSF GRCh37 4 175158624 175158624 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 34 285 0 ENST00000393674.2:c.899G>A p.Ser300Asn p.S300N ENST00000393674 NM_012180.2 300 aGt/aAt 0 -FBXW11 UCSF GRCh37 5 171337700 171337700 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 17 148 0 ENST00000265094.5:c.249G>A p.Trp83Ter p.W83* ENST00000265094 NM_012300.2 83 tgG/tgA 0 -FBXW7 UCSF GRCh37 4 153303474 153303474 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 15 206 0 ENST00000281708.4:c.501+28981G>A *167* ENST00000281708 NM_033632.3 0 -FCGBP UCSF GRCh37 19 40362965 40362965 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 17 118 0 ENST00000221347.6:c.15105G>A p.Val5035= p.V5035= ENST00000221347 NM_003890.2 5035 gtG/gtA 0 -FDX1L UCSF GRCh37 19 10426655 10426655 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 30 232 0 ENST00000393708.3:c.18C>T p.Ala6= p.A6= ENST00000393708 NM_001031734.2 6 gcC/gcT 0 -FER1L5 UCSF GRCh37 2 97363883 97363883 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 14 169 0 ENST00000397978.2:n.657G>A *219* ENST00000397978 0 -FES UCSF GRCh37 15 91433429 91433429 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 10 96 0 ENST00000328850.3:c.1157C>T p.Thr386Ile p.T386I ENST00000328850 NM_002005.3 386 aCc/aTc 0 -FFAR1 UCSF GRCh37 19 35843297 35843297 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 10 100 0 ENST00000246553.2:c.843G>A p.Arg281= p.R281= ENST00000246553 NM_005303.2 281 agG/agA 0 -FGD2 UCSF GRCh37 6 36990014 36990014 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 15 124 0 ENST00000274963.8:c.1327-1G>A p.X443_splice ENST00000274963 NM_173558.3 0 -FGD4 UCSF GRCh37 12 32764155 32764155 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 26 187 0 ENST00000427716.2:c.1276G>A p.Glu426Lys p.E426K ENST00000427716 NM_139241.2 426 Gaa/Aaa 0 -FHAD1 UCSF GRCh37 1 15639596 15639596 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 12 80 0 ENST00000358897.4:c.1083G>A p.Glu361= p.E361= ENST00000358897 NM_052929.1 361 gaG/gaA 0 -FIGNL2 UCSF GRCh37 12 52214542 52214542 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 15 151 0 ENST00000564840.1:n.1658C>T *553* ENST00000564840 0 -FILIP1L UCSF GRCh37 3 99569857 99569857 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 184 34 365 0 ENST00000354552.3:c.663G>A p.Lys221= p.K221= ENST00000354552 NM_182909.2 221 aaG/aaA 0 -FIP1L1 UCSF GRCh37 4 54319155 54319155 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 14 105 0 ENST00000337488.6:c.1354G>A p.Asp452Asn p.D452N ENST00000337488 NM_030917.3 452 Gac/Aac 0 -FKBP15 UCSF GRCh37 9 115935780 115935780 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 12 152 0 ENST00000238256.3:c.2485G>A p.Ala829Thr p.A829T ENST00000238256 NM_015258.1 829 Gca/Aca 0 -FKBP5 UCSF GRCh37 6 35545001 35545001 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 21 191 0 ENST00000357266.4:c.1036C>T p.Leu346= p.L346= ENST00000357266 NM_004117.3 346 Ctg/Ttg 0 -FLG UCSF GRCh37 1 152286765 152286765 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 255 36 463 0 ENST00000368799.1:c.597G>A p.Arg199= p.R199= ENST00000368799 NM_002016.1 199 agG/agA 0 -FLG UCSF GRCh37 1 152280705 152280705 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 31 394 0 ENST00000368799.1:c.6657C>T p.Ser2219= p.S2219= ENST00000368799 NM_002016.1 2219 agC/agT 0 -FLJ22184 UCSF GRCh37 19 7934003 7934003 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 18 70 0 ENST00000539422.1:c.3957C>T p.Ile1319= p.I1319= ENST00000539422 NM_001190467.1 1319 atC/atT 0 -FLNB UCSF GRCh37 3 58092550 58092550 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 292 177 518 0 ENST00000295956.4:c.1891C>T p.Pro631Ser p.P631S ENST00000295956 NM_001457.3 631 Ccg/Tcg 0 -FLNC UCSF GRCh37 7 128478320 128478320 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 269 38 261 0 ENST00000325888.8:c.1048-1G>A p.X350_splice ENST00000325888 NM_001458.4 0 -FLT3LG UCSF GRCh37 19 49983661 49983661 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 13 100 0 ENST00000594009.1:c.588C>T p.Leu196= p.L196= ENST00000594009 NM_001204503.1 196 ctC/ctT 0 -FLVCR1 UCSF GRCh37 1 213032485 213032485 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 47 0 ENST00000366971.4:c.691C>T p.Pro231Ser p.P231S ENST00000366971 NM_014053.3 231 Ccc/Tcc 0 -FLYWCH1 UCSF GRCh37 16 2988390 2988390 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 23 167 0 ENST00000253928.9:c.1983C>T p.Asp661= p.D661= ENST00000253928 661 gaC/gaT 0 -FMO5 UCSF GRCh37 1 146673066 146673066 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 9 105 0 ENST00000254090.4:c.851C>T p.Thr284Ile p.T284I ENST00000254090 NM_001461.3 284 aCc/aTc 0 -FMOD UCSF GRCh37 1 203317066 203317066 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 16 108 0 ENST00000354955.4:c.333C>T p.Tyr111= p.Y111= ENST00000354955 NM_002023.4 111 taC/taT 0 -FNDC8 UCSF GRCh37 17 33454374 33454374 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 210 47 314 0 ENST00000158009.5:c.523G>A p.Val175Ile p.V175I ENST00000158009 NM_017559.2 175 Gtt/Att 0 -FOXC1 UCSF GRCh37 6 1610723 1610723 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 7 27 0 ENST00000380874.2:c.43G>A p.Val15Met p.V15M ENST00000380874 NM_001453.2 15 Gtg/Atg 0 -FOXE1 UCSF GRCh37 9 100616951 100616951 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 14 102 0 ENST00000375123.3:c.755C>T p.Ala252Val p.A252V ENST00000375123 NM_004473.3 252 gCc/gTc 0 -FOXM1 UCSF GRCh37 12 2983270 2983270 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 11 106 0 ENST00000359843.3:c.375C>T p.Thr125= p.T125= ENST00000359843 NM_021953.3 125 acC/acT 0 -FOXP1 UCSF GRCh37 3 71008464 71008464 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 328 55 478 0 ENST00000318789.4:c.1968C>T p.Asn656= p.N656= ENST00000318789 NM_032682.5 656 aaC/aaT 0 -FRAS1 UCSF GRCh37 4 79295343 79295343 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 5 43 0 ENST00000264895.6:c.3089C>T p.Ala1030Val p.A1030V ENST00000264895 NM_025074.6 1030 gCc/gTc 0 -FRAS1 UCSF GRCh37 4 79334210 79334210 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 12 128 0 ENST00000264895.6:c.4396G>A p.Val1466Met p.V1466M ENST00000264895 NM_025074.6 1466 Gtg/Atg 0 -FRAS1 UCSF GRCh37 4 79461764 79461764 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 13 100 0 ENST00000264895.6:c.11525G>A p.Arg3842His p.R3842H ENST00000264895 NM_025074.6 3842 cGc/cAc 0 -FRMD7 UCSF GRCh37 X 131212018 131212018 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 18 126 0 ENST00000298542.4:c.2027G>A p.Arg676Lys p.R676K ENST00000298542 NM_194277.2 676 aGa/aAa 0 -FRS3 UCSF GRCh37 6 41738438 41738438 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 32 184 0 ENST00000259748.2:c.1398G>A p.Met466Ile p.M466I ENST00000259748 466 atG/atA 0 -FSD2 UCSF GRCh37 15 83449004 83449004 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 7 39 0 ENST00000334574.8:c.982G>A p.Ala328Thr p.A328T ENST00000334574 328 Gct/Act 0 -FSIP1 UCSF GRCh37 15 39910257 39910257 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 116 16 266 0 ENST00000350221.3:c.1378G>A p.Val460Ile p.V460I ENST00000350221 NM_152597.4 460 Gtc/Atc 0 -FTSJ3 UCSF GRCh37 17 61903936 61903936 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 8 59 0 ENST00000427159.2:c.164C>T p.Pro55Leu p.P55L ENST00000427159 NM_017647.3 55 cCa/cTa 0 -FURIN UCSF GRCh37 15 91423126 91423126 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 13 119 0 ENST00000268171.3:c.1288G>A p.Asp430Asn p.D430N ENST00000268171 NM_002569.2 430 Gac/Aac 0 -FUT5 UCSF GRCh37 19 5867208 5867208 + missense_variant Missense_Mutation SNP C C T snp132_rs61731581 P24_Rec2 Untested WXS Illumina HiSeq 60 13 67 0 ENST00000252675.5:c.529G>A p.Asp177Asn p.D177N ENST00000252675 177 Gac/Aac 0 -FUT9 UCSF GRCh37 6 96651405 96651405 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 206 24 269 0 ENST00000302103.5:c.374G>A p.Arg125Lys p.R125K ENST00000302103 NM_006581.3 125 aGg/aAg 0 -FXN UCSF GRCh37 9 71668084 71668084 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 7 65 0 ENST00000377270.3:c.292C>T p.Leu98= p.L98= ENST00000377270 NM_000144.4 98 Cta/Tta 0 -FZD10 UCSF GRCh37 12 130648588 130648588 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 23 234 0 ENST00000229030.4:c.1101C>T p.Ile367= p.I367= ENST00000229030 367 atC/atT 0 -G3BP2 UCSF GRCh37 4 76571553 76571553 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 155 19 273 0 ENST00000359707.4:c.1145C>T p.Ser382Phe p.S382F ENST00000359707 NM_203505.2 382 tCt/tTt 0 -GABBR1 UCSF GRCh37 6 29599359 29599359 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 7 60 0 ENST00000377034.4:c.103C>T p.Pro35Ser p.P35S ENST00000377034 NM_001470.2 35 Ccg/Tcg 0 -GABRR1 UCSF GRCh37 6 89888600 89888600 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 206 33 272 0 ENST00000454853.2:c.1329C>T p.Ser443= p.S443= ENST00000454853 NM_001256704.1 443 agC/agT 0 -GALNT10 UCSF GRCh37 5 153570543 153570543 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 8 51 0 ENST00000297107.6:c.117C>T p.Thr39= p.T39= ENST00000297107 NM_198321.3 39 acC/acT 0 -GALNT5 UCSF GRCh37 2 158115992 158115992 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 10 94 0 ENST00000259056.4:c.1398C>T p.Val466= p.V466= ENST00000259056 NM_014568.1 466 gtC/gtT 0 -GALNT7 UCSF GRCh37 4 174169194 174169194 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 3 42 0 ENST00000265000.4:c.190G>A p.Asp64Asn p.D64N ENST00000265000 NM_017423.2 64 Gac/Aac 0 -GALNTL1 UCSF GRCh37 14 69814638 69814638 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 20 185 0 ENST00000337827.4:c.1458C>T p.Cys486= p.C486= ENST00000337827 NM_020692.2 486 tgC/tgT 0 -GALNTL2 UCSF GRCh37 3 16237308 16237308 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 17 9 20 0 ENST00000339732.5:c.581G>A p.Ser194Asn p.S194N ENST00000339732 NM_054110.4 194 aGc/aAc 0 -GANAB UCSF GRCh37 11 62402333 62402333 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 26 162 0 ENST00000356638.3:c.520G>A p.Gly174Arg p.G174R ENST00000356638 NM_198334.2 174 Gga/Aga 0 -GATA1 UCSF GRCh37 X 48650557 48650557 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 17 192 0 ENST00000376670.3:c.527C>T p.Thr176Ile p.T176I ENST00000376670 NM_002049.3 176 aCc/aTc 0 -GBAS UCSF GRCh37 7 56049253 56049253 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 4 38 0 ENST00000322090.3:c.366C>T p.Asp122= p.D122= ENST00000322090 NM_001483.2 122 gaC/gaT 0 -GBF1 UCSF GRCh37 10 104136322 104136322 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 50 378 0 ENST00000369983.3:c.4050G>A p.Gly1350= p.G1350= ENST00000369983 NM_004193.2 1350 ggG/ggA 0 -GCLC UCSF GRCh37 6 53372382 53372382 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 47 136 0 ENST00000229416.6:c.980C>T p.Ser327Phe p.S327F ENST00000229416 NM_001197115.1 327 tCc/tTc 0 -GCN1L1 UCSF GRCh37 12 120585002 120585002 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 39 112 0 ENST00000300648.6:c.4801G>A p.Asp1601Asn p.D1601N ENST00000300648 NM_006836.1 1601 Gac/Aac 0 -GCNT2 UCSF GRCh37 6 10586526 10586526 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 34 307 0 ENST00000379597.3:c.926-35058G>A *309* ENST00000379597 0 -GDAP1 UCSF GRCh37 8 75276411 75276411 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 24 214 0 ENST00000220822.7:c.886G>A p.Val296Ile p.V296I ENST00000220822 NM_001040875.2 296 Gtc/Atc 0 -GDPD4 UCSF GRCh37 11 76928350 76928350 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 18 199 0 ENST00000376217.2:c.1535G>A p.Ser512Asn p.S512N ENST00000376217 512 aGt/aAt 0 -GDPD4 UCSF GRCh37 11 76990369 76990369 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 9 65 0 ENST00000376217.2:c.129C>T p.Ala43= p.A43= ENST00000376217 43 gcC/gcT 0 -GDPD5 UCSF GRCh37 11 75154180 75154180 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 12 75 0 ENST00000336898.3:c.948+1G>A p.X316_splice ENST00000336898 NM_030792.6 0 -GFOD1 UCSF GRCh37 6 13487026 13487026 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 218 164 395 0 ENST00000379287.3:c.97G>A p.Gly33Ser p.G33S ENST00000379287 NM_018988.3 33 Ggc/Agc 0 -GGA1 UCSF GRCh37 22 38026166 38026166 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 7 53 0 ENST00000343632.4:c.1320G>A p.Gln440= p.Q440= ENST00000343632 NM_013365.4 440 caG/caA 0 -GGA3 UCSF GRCh37 17 73237757 73237757 + 3_prime_UTR_variant 3'UTR SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 21 194 0 ENST00000537686.1:c.*202G>A *68* ENST00000537686 0 -GGT7 UCSF GRCh37 20 33460541 33460541 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 5 43 0 ENST00000336431.5:c.78C>T p.Ser26= p.S26= ENST00000336431 NM_178026.2 26 agC/agT 0 -GHITM UCSF GRCh37 10 85901270 85901270 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 29 199 0 ENST00000372134.3:c.14G>A p.Arg5Lys p.R5K ENST00000372134 NM_014394.2 5 aGg/aAg 0 -GIGYF1 UCSF GRCh37 7 100285184 100285184 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 49 165 0 ENST00000275732.5:c.317G>A p.Gly106Glu p.G106E ENST00000275732 NM_022574.4 106 gGg/gAg 0 -GIGYF1 UCSF GRCh37 7 100285626 100285626 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 21 200 0 ENST00000275732.5:c.143C>T p.Ala48Val p.A48V ENST00000275732 NM_022574.4 48 gCt/gTt 0 -GIGYF1 UCSF GRCh37 7 100280392 100280392 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 13 79 0 ENST00000275732.5:c.2421G>A p.Gly807= p.G807= ENST00000275732 NM_022574.4 807 ggG/ggA 0 -GIPC2 UCSF GRCh37 1 78511943 78511943 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 10 51 0 ENST00000370759.3:c.165C>T p.Gly55= p.G55= ENST00000370759 NM_017655.4 55 ggC/ggT 0 -GJA9 UCSF GRCh37 1 39340326 39340326 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 22 242 0 ENST00000357771.3:c.1445G>A p.Gly482Glu p.G482E ENST00000357771 NM_030772.4 482 gGg/gAg 0 -GJC2 UCSF GRCh37 1 228345498 228345498 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 7 85 0 ENST00000366714.2:c.39G>A p.Leu13= p.L13= ENST00000366714 NM_020435.3 13 ctG/ctA 0 -GLA UCSF GRCh37 X 100653432 100653432 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 12 53 0 ENST00000218516.3:c.925G>A p.Ala309Thr p.A309T ENST00000218516 NM_000169.2 309 Gct/Act 0 -GLI1 UCSF GRCh37 12 57865572 57865572 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 802 108 171 0 ENST00000228682.2:c.3049G>A p.Gly1017Ser p.G1017S ENST00000228682 NM_005269.2 1017 Ggc/Agc 0 -GNA11 UCSF GRCh37 19 3121050 3121050 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 17 130 0 ENST00000078429.4:c.953C>T p.Pro318Leu p.P318L ENST00000078429 NM_002067.2 318 cCc/cTc 0 -GNA12 UCSF GRCh37 7 2834768 2834768 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 195 74 236 0 ENST00000275364.3:c.319G>A p.Val107Ile p.V107I ENST00000275364 NM_007353.2 107 Gtt/Att 0 -GNB2L1 UCSF GRCh37 5 180666492 180666492 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 20 137 0 ENST00000512805.1:c.520G>A p.Val174Ile p.V174I ENST00000512805 NM_006098.4 174 Gtc/Atc 0 -GNPDA2 UCSF GRCh37 4 44709880 44709880 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 32 307 0 ENST00000295448.3:c.658G>A p.Val220Ile p.V220I ENST00000295448 NM_138335.2 220 Gtc/Atc 0 -GNPTAB UCSF GRCh37 12 102163923 102163923 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 27 254 0 ENST00000299314.7:c.1160C>T p.Ala387Val p.A387V ENST00000299314 NM_024312.4 387 gCt/gTt 0 -GNPTG UCSF GRCh37 16 1411918 1411918 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 191 25 222 0 ENST00000204679.4:c.279G>A p.Glu93= p.E93= ENST00000204679 NM_032520.4 93 gaG/gaA 0 -GOLGA1 UCSF GRCh37 9 127693594 127693594 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 6 48 0 ENST00000373555.4:c.226+1G>A p.X76_splice ENST00000373555 NM_002077.3 0 -GOLGA2 UCSF GRCh37 9 131028282 131028282 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 3 29 0 ENST00000421699.2:c.618C>T p.His206= p.H206= ENST00000421699 NM_004486.4 206 caC/caT 0 -GOLGB1 UCSF GRCh37 3 121412909 121412909 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 406 190 771 0 ENST00000340645.5:c.6446G>A p.Arg2149His p.R2149H ENST00000340645 NM_001256487.1 2149 cGc/cAc 0 -GOLGB1 UCSF GRCh37 3 121386937 121386937 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 8 77 0 ENST00000340645.5:c.9375C>T p.Asp3125= p.D3125= ENST00000340645 NM_001256487.1 3125 gaC/gaT 0 -GPIHBP1 UCSF GRCh37 8 144296979 144296979 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 10 97 0 ENST00000330824.2:c.273C>T p.Thr91= p.T91= ENST00000330824 NM_178172.3 91 acC/acT 0 -GPR124 UCSF GRCh37 8 37691227 37691227 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 28 189 0 ENST00000412232.2:c.1318G>A p.Ala440Thr p.A440T ENST00000412232 NM_032777.9 440 Gcg/Acg 0 -GPR126 UCSF GRCh37 6 142741137 142741137 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 18 154 0 ENST00000230173.6:c.3215G>A p.Ser1072Asn p.S1072N ENST00000230173 NM_020455.5 1072 aGc/aAc 0 -GPR132 UCSF GRCh37 14 105518041 105518041 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 22 199 0 ENST00000329797.3:c.433G>A p.Val145Met p.V145M ENST00000329797 NM_013345.3 145 Gtg/Atg 0 -GPR143 UCSF GRCh37 X 9714171 9714171 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 52 0 ENST00000467482.1:c.571G>A p.Ala191Thr p.A191T ENST00000467482 191 Gcc/Acc 0 -GPR156 UCSF GRCh37 3 119905531 119905531 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 194 37 276 0 ENST00000315843.3:c.574C>T p.Leu192Phe p.L192F ENST00000315843 NM_153002.2 192 Ctc/Ttc 0 -GPR160 UCSF GRCh37 3 169801841 169801841 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 224 29 368 0 ENST00000355897.5:c.81G>A p.Leu27= p.L27= ENST00000355897 NM_014373.2 27 ctG/ctA 0 -GPR179 UCSF GRCh37 17 36482967 36482967 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 468 90 649 0 ENST00000342292.4:c.6485C>T p.Pro2162Leu p.P2162L ENST00000342292 NM_001004334.2 2162 cCt/cTt 0 -GPR37L1 UCSF GRCh37 1 202097390 202097390 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 212 47 249 0 ENST00000367282.5:c.1152C>T p.Tyr384= p.Y384= ENST00000367282 NM_004767.3 384 taC/taT 0 -GPR50 UCSF GRCh37 X 150349701 150349701 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 49 231 0 ENST00000218316.3:c.1646C>T p.Ala549Val p.A549V ENST00000218316 NM_004224.3 549 gCc/gTc 0 -GPR77 UCSF GRCh37 19 47844575 47844575 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 27 226 0 ENST00000595464.1:c.519C>T p.Arg173= p.R173= ENST00000595464 NM_001271749.1 173 cgC/cgT 0 -GPR77 UCSF GRCh37 19 47844816 47844816 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 26 164 0 ENST00000595464.1:c.760C>T p.Leu254= p.L254= ENST00000595464 NM_001271749.1 254 Ctg/Ttg 0 -GPR98 UCSF GRCh37 5 89979842 89979842 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 27 228 0 ENST00000405460.2:c.6104C>T p.Thr2035Ile p.T2035I ENST00000405460 NM_032119.3 2035 aCt/aTt 0 -GPR98 UCSF GRCh37 5 90459629 90459629 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 23 212 0 ENST00000405460.2:c.18833C>T p.Ser6278Phe p.S6278F ENST00000405460 NM_032119.3 6278 tCt/tTt 0 -GPR98 UCSF GRCh37 5 89930943 89930943 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 13 128 0 ENST00000405460.2:c.1852G>A p.Glu618Lys p.E618K ENST00000405460 NM_032119.3 618 Gag/Aag 0 -GPR98 UCSF GRCh37 5 89939622 89939622 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 32 111 0 ENST00000405460.2:c.2556G>A p.Leu852= p.L852= ENST00000405460 NM_032119.3 852 ttG/ttA 0 -GPRIN3 UCSF GRCh37 4 90168988 90168988 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 14 142 0 ENST00000333209.4:c.2274G>A p.Gln758= p.Q758= ENST00000333209 758 caG/caA 0 -GRAMD1B UCSF GRCh37 11 123479372 123479372 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 233 42 361 0 ENST00000529750.1:c.1090G>A p.Val364Ile p.V364I ENST00000529750 NM_020716.1 364 Gtc/Atc 0 -GRAMD1B UCSF GRCh37 11 123448180 123448180 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 183 34 271 0 ENST00000529750.1:c.129G>A p.Glu43= p.E43= ENST00000529750 NM_020716.1 43 gaG/gaA 0 -GRHPR UCSF GRCh37 9 37436728 37436728 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 7 94 0 ENST00000318158.6:c.936C>T p.Asn312= p.N312= ENST00000318158 NM_012203.1 312 aaC/aaT 0 -GRID1 UCSF GRCh37 10 87362214 87362214 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 15 99 0 ENST00000327946.7:c.2846G>A p.Ser949Asn p.S949N ENST00000327946 NM_017551.2 949 aGc/aAc 0 -GRIN2A UCSF GRCh37 16 9857613 9857613 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 160 24 241 0 ENST00000330684.3:c.3788G>A p.Gly1263Glu p.G1263E ENST00000330684 NM_001134407.1 1263 gGg/gAg 0 -GRIPAP1 UCSF GRCh37 X 48832511 48832511 + downstream_gene_variant 3'Flank SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 9 23 47 0 ENST00000376423 NM_207672.1 0 -GRK4 UCSF GRCh37 4 3029687 3029687 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 20 120 0 ENST00000398052.4:c.1019G>A p.Gly340Glu p.G340E ENST00000398052 NM_182982.2 340 gGa/gAa 0 -GRK4 UCSF GRCh37 4 3021409 3021409 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 32 227 0 ENST00000398052.4:c.783C>T p.Cys261= p.C261= ENST00000398052 NM_182982.2 261 tgC/tgT 0 -GRM2 UCSF GRCh37 3 51743012 51743012 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 6 63 0 ENST00000395052.3:c.13C>T p.Leu5Phe p.L5F ENST00000395052 NM_000839.3 5 Ctt/Ttt 0 -GRM7 UCSF GRCh37 3 6903548 6903548 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 64 203 0 ENST00000357716.4:c.473G>A p.Gly158Glu p.G158E ENST00000357716 NM_000844.3 158 gGg/gAg 0 -GRM7 UCSF GRCh37 3 7620195 7620195 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 211 25 280 0 ENST00000357716.4:c.1602G>A p.Lys534= p.K534= ENST00000357716 NM_000844.3 534 aaG/aaA 0 -GRM8 UCSF GRCh37 7 126086146 126086146 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 45 165 0 ENST00000339582.2:c.2677+34G>A *893* ENST00000339582 0 -GRSF1 UCSF GRCh37 4 71698972 71698972 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 16 124 0 ENST00000254799.6:c.533G>A p.Gly178Asp p.G178D ENST00000254799 NM_002092.3 178 gGt/gAt 0 -GSDMA UCSF GRCh37 17 38132196 38132196 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 27 251 0 ENST00000301659.4:c.1041G>A p.Gln347= p.Q347= ENST00000301659 NM_178171.4 347 caG/caA 0 -GSDMB UCSF GRCh37 17 38062477 38062477 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 277 35 374 0 ENST00000418519.1:c.775G>A p.Glu259Lys p.E259K ENST00000418519 NM_001165958.1 259 Gag/Aag 0 -GSG2 UCSF GRCh37 17 3628465 3628465 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 490 68 672 0 ENST00000325418.4:c.1236C>T p.Leu412= p.L412= ENST00000325418 NM_031965.2 412 ctC/ctT 0 -GSPT1 UCSF GRCh37 16 11981543 11981543 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 23 132 0 ENST00000420576.2:c.427G>A p.Gly143Ser p.G143S ENST00000420576 NM_001130007.1 143 Ggt/Agt 0 -GTF3C1 UCSF GRCh37 16 27500465 27500465 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 28 172 0 ENST00000356183.4:c.3328C>T p.Pro1110Ser p.P1110S ENST00000356183 NM_001520.3 1110 Cct/Tct 0 -GUCY1A2 UCSF GRCh37 11 106680975 106680975 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 234 41 325 0 ENST00000526355.2:c.1436C>T p.Thr479Ile p.T479I ENST00000526355 NM_000855.2 479 aCt/aTt 0 -GUCY2D UCSF GRCh37 17 7906839 7906839 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 10 22 0 ENST00000254854.4:c.474G>A p.Glu158= p.E158= ENST00000254854 NM_000180.3 158 gaG/gaA 0 -GUSB UCSF GRCh37 7 65441159 65441159 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 21 158 0 ENST00000304895.4:c.755G>A p.Gly252Asp p.G252D ENST00000304895 NM_000181.3 252 gGc/gAc 0 -H6PD UCSF GRCh37 1 9324292 9324292 + synonymous_variant Silent SNP G G A snp132_rs112516051 P24_Rec2 Untested WXS Illumina HiSeq 107 21 123 0 ENST00000377403.2:c.1740G>A p.Arg580= p.R580= ENST00000377403 NM_004285.3 580 cgG/cgA 0 -HACL1 UCSF GRCh37 3 15631079 15631079 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 5 70 0 ENST00000321169.5:c.349G>A p.Glu117Lys p.E117K ENST00000321169 NM_012260.2 117 Gaa/Aaa 0 -HCAR1 UCSF GRCh37 12 123214554 123214554 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 13 125 0 ENST00000432564.1:c.333G>A p.Ala111= p.A111= ENST00000432564 NM_032554.3 111 gcG/gcA 0 -HCN2 UCSF GRCh37 19 613904 613904 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 8 51 0 ENST00000251287.2:c.1878C>T p.Thr626= p.T626= ENST00000251287 NM_001194.3 626 acC/acT 0 -HCN3 UCSF GRCh37 1 155257939 155257939 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 18 143 0 ENST00000368358.3:c.2010C>T p.Arg670= p.R670= ENST00000368358 NM_020897.2 670 cgC/cgT 0 -HCST UCSF GRCh37 19 36394294 36394294 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 363 42 484 0 ENST00000246551.4:c.85C>T p.Pro29Ser p.P29S ENST00000246551 29 Cct/Tct 0 -HDAC1 UCSF GRCh37 1 32782331 32782331 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 136 24 159 0 ENST00000373548.3:c.228G>A p.Leu76= p.L76= ENST00000373548 NM_004964.2 76 ttG/ttA 0 -HDDC3 UCSF GRCh37 15 91475314 91475314 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 7 103 0 ENST00000394272.3:c.139G>A p.Ala47Thr p.A47T ENST00000394272 NM_001286451.1 47 Gcg/Acg 0 -HEATR4 UCSF GRCh37 14 73989011 73989011 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 9 98 0 ENST00000334988.2:c.846G>A p.Lys282= p.K282= ENST00000334988 NM_203309.2 282 aaG/aaA 0 -HEATR5B UCSF GRCh37 2 37215869 37215869 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 5 50 0 ENST00000233099.5:c.5831C>T p.Ala1944Val p.A1944V ENST00000233099 NM_019024.1 1944 gCc/gTc 0 -HECTD1 UCSF GRCh37 14 31576053 31576053 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 184 26 235 0 ENST00000399332.1:c.7025G>A p.Gly2342Glu p.G2342E ENST00000399332 NM_015382.2 2342 gGa/gAa 0 -HECTD1 UCSF GRCh37 14 31613428 31613428 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 25 263 0 ENST00000399332.1:c.2667G>A p.Met889Ile p.M889I ENST00000399332 NM_015382.2 889 atG/atA 0 -HECTD1 UCSF GRCh37 14 31576304 31576304 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 11 161 0 ENST00000399332.1:c.6774C>T p.Asp2258= p.D2258= ENST00000399332 NM_015382.2 2258 gaC/gaT 0 -HECW1 UCSF GRCh37 7 43483838 43483838 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 16 120 0 ENST00000395891.2:c.1067G>A p.Ser356Asn p.S356N ENST00000395891 NM_015052.3 356 aGt/aAt 0 -HELT UCSF GRCh37 4 185941579 185941579 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 10 135 0 ENST00000515777.1:c.382C>T p.Leu128= p.L128= ENST00000515777 128 Ctg/Ttg 0 -HELZ UCSF GRCh37 17 65104735 65104735 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 20 141 0 ENST00000358691.5:c.4597C>T p.Pro1533Ser p.P1533S ENST00000358691 NM_014877.3 1533 Cca/Tca 0 -HENMT1 UCSF GRCh37 1 109192907 109192910 + frameshift_variant Frame_Shift_Del DEL TTCC TTCC - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 0 ENST00000370032.5:c.679_682del p.Gly227SerfsTer55 p.G227Sfs*55 ENST00000370032 NM_144584.2 227 GGAAtc/tc 0 -HEPACAM UCSF GRCh37 11 124794649 124794649 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 200 36 240 0 ENST00000298251.4:c.402G>A p.Glu134= p.E134= ENST00000298251 NM_152722.4 134 gaG/gaA 0 -HEPH UCSF GRCh37 X 65414964 65414964 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 3 22 0 ENST00000343002.2:c.1394G>A p.Gly465Asp p.G465D ENST00000343002 465 gGt/gAt 0 -HEPHL1 UCSF GRCh37 11 93797501 93797501 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 11 91 0 ENST00000315765.9:c.633C>T p.Ile211= p.I211= ENST00000315765 NM_001098672.1 211 atC/atT 0 -HERC1 UCSF GRCh37 15 63922732 63922732 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 392 55 511 0 ENST00000443617.2:c.12899C>T p.Ala4300Val p.A4300V ENST00000443617 NM_003922.3 4300 gCt/gTt 0 -HERC2 UCSF GRCh37 15 28436142 28436142 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 6 75 0 ENST00000261609.7:c.8618C>T p.Thr2873Ile p.T2873I ENST00000261609 NM_004667.5 2873 aCc/aTc 0 -HERC2 UCSF GRCh37 15 28386941 28386941 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 234 32 333 0 ENST00000261609.7:c.11752C>T p.Leu3918= p.L3918= ENST00000261609 NM_004667.5 3918 Ctg/Ttg 0 -HERC5 UCSF GRCh37 4 89389506 89389506 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 7 76 0 ENST00000264350.3:c.1067C>T p.Thr356Ile p.T356I ENST00000264350 NM_016323.3 356 aCc/aTc 0 -HFE2 UCSF GRCh37 1 145416933 145416933 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 311 55 453 0 ENST00000336751.5:c.1278G>A p.Gln426= p.Q426= ENST00000336751 NM_213653.3 426 caG/caA 0 -HGFAC UCSF GRCh37 4 3449664 3449664 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 4 60 0 ENST00000382774.3:c.1538G>A p.Arg513His p.R513H ENST00000382774 NM_001528.2 513 cGc/cAc 0 -HIC2 UCSF GRCh37 22 21799854 21799854 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 8 73 0 ENST00000407464.2:c.670G>A p.Glu224Lys p.E224K ENST00000407464 NM_015094.2 224 Gag/Aag 0 -HIP1 UCSF GRCh37 7 75176264 75176264 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 63 0 ENST00000336926.6:c.2532C>T p.Leu844= p.L844= ENST00000336926 NM_005338.6 844 ctC/ctT 0 -HIST1H2AK UCSF GRCh37 6 27805862 27805862 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 12 104 0 ENST00000330180.2:c.256C>T p.Leu86= p.L86= ENST00000330180 NM_003510.2 86 Ctg/Ttg 0 -HIST1H2BK UCSF GRCh37 6 27114231 27114231 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 11 98 0 ENST00000356950.1:c.347C>T p.Thr116Ile p.T116I ENST00000356950 116 aCc/aTc 0 -HJURP UCSF GRCh37 2 234750741 234750741 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 164 28 294 0 ENST00000411486.2:c.685C>T p.Pro229Ser p.P229S ENST00000411486 NM_018410.3 229 Cct/Tct 0 -HMCN1 UCSF GRCh37 1 186039746 186039746 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 25 254 0 ENST00000271588.4:c.7996C>T p.Pro2666Ser p.P2666S ENST00000271588 NM_031935.2 2666 Cca/Tca 0 -HMCN1 UCSF GRCh37 1 186107095 186107095 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 4 37 0 ENST00000271588.4:c.13915C>T p.Pro4639Ser p.P4639S ENST00000271588 NM_031935.2 4639 Cct/Tct 0 -HMMR UCSF GRCh37 5 162896656 162896656 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 13 89 0 ENST00000358715.3:c.280C>T p.Leu94Phe p.L94F ENST00000358715 94 Ctt/Ttt 0 -HNRNPU UCSF GRCh37 1 245021421 245021421 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 222 31 271 0 ENST00000283179.9:c.1386G>A p.Lys462= p.K462= ENST00000283179 462 aaG/aaA 0 -HNRNPUL1 UCSF GRCh37 19 41774156 41774156 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 5 58 0 ENST00000392006.3:c.324C>T p.Asn108= p.N108= ENST00000392006 NM_007040.3 108 aaC/aaT 0 -HOGA1 UCSF GRCh37 10 99358621 99358621 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 9 116 0 ENST00000370646.4:c.301C>T p.Pro101Ser p.P101S ENST00000370646 NM_138413.3 101 Ccc/Tcc 0 -HOXA11 UCSF GRCh37 7 27224318 27224318 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 145 28 120 0 ENST00000006015.3:c.446G>A p.Gly149Asp p.G149D ENST00000006015 NM_005523.5 149 gGc/gAc 0 -HOXB1 UCSF GRCh37 17 46608212 46608212 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 8 91 0 ENST00000239174.6:c.55C>T p.Pro19Ser p.P19S ENST00000239174 NM_002144.3 19 Ccc/Tcc 0 -HOXB2 UCSF GRCh37 17 46622042 46622042 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 8 42 0 ENST00000330070.4:c.232C>T p.Leu78= p.L78= ENST00000330070 NM_002145.3 78 Ctg/Ttg 0 -HOXB8 UCSF GRCh37 17 46691826 46691826 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 24 220 0 ENST00000239144.4:c.241G>A p.Asp81Asn p.D81N ENST00000239144 NM_024016.3 81 Gac/Aac 0 -HOXC12 UCSF GRCh37 12 54350237 54350237 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 11 62 0 ENST00000243103.3:c.736G>A p.Glu246Lys p.E246K ENST00000243103 NM_173860.1 246 Gaa/Aaa 0 -HOXC8 UCSF GRCh37 12 54403386 54403389 + frameshift_variant Frame_Shift_Del DEL GAGC GAGC AAG NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 0 ENST00000040584.4:c.318_321delinsAAG p.Ser107ArgfsTer23 p.S107Rfs*23 ENST00000040584 NM_022658.3 106 gcGAGC/gcAAG 0 -HOXD9 UCSF GRCh37 2 176987832 176987832 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 7 86 0 ENST00000249499.6:c.336C>T p.Pro112= p.P112= ENST00000249499 NM_014213.3 112 ccC/ccT 0 -HPCA UCSF GRCh37 1 33359382 33359382 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 161 31 226 0 ENST00000373467.3:c.501G>A p.Glu167= p.E167= ENST00000373467 NM_002143.2 167 gaG/gaA 0 -HPS4 UCSF GRCh37 22 26864578 26864578 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 18 115 0 ENST00000336873.5:c.608C>T p.Thr203Ile p.T203I ENST00000336873 203 aCc/aTc 0 -HPS4 UCSF GRCh37 22 26860252 26860252 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 27 149 0 ENST00000336873.5:c.1344C>T p.Gly448= p.G448= ENST00000336873 448 ggC/ggT 0 -HR UCSF GRCh37 8 21978318 21978318 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 22 158 0 ENST00000381418.4:c.2521C>T p.Pro841Ser p.P841S ENST00000381418 NM_005144.4 841 Ccc/Tcc 0 -HRC UCSF GRCh37 19 49656929 49656929 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 332 57 505 0 ENST00000252825.4:c.1566G>A p.Glu522= p.E522= ENST00000252825 NM_002152.2 522 gaG/gaA 0 -HRH2 UCSF GRCh37 5 175110611 175110611 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 423 74 627 0 ENST00000231683.2:c.375G>A p.Arg125= p.R125= ENST00000231683 NM_022304.2 125 cgG/cgA 0 -HRNR UCSF GRCh37 1 152191458 152191458 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 13 131 0 ENST00000368801.2:c.2647C>T p.His883Tyr p.H883Y ENST00000368801 NM_001009931.2 883 Cat/Tat 0 -HSD3B1 UCSF GRCh37 1 120056648 120056648 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 9 113 0 ENST00000369413.3:c.502G>A p.Ala168Thr p.A168T ENST00000369413 168 Gcg/Acg 0 -HSD3B2 UCSF GRCh37 1 119964551 119964551 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 7 73 0 ENST00000369416.3:c.427G>A p.Glu143Lys p.E143K ENST00000369416 NM_000198.3 143 Gaa/Aaa 0 -HSPA9 UCSF GRCh37 5 137895578 137895578 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 12 103 0 ENST00000297185.3:c.1385C>T p.Thr462Ile p.T462I ENST00000297185 NM_004134.6 462 aCc/aTc 0 -HSPB3 UCSF GRCh37 5 53751797 53751797 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 22 219 0 ENST00000302005.1:c.178G>A p.Ala60Thr p.A60T ENST00000302005 NM_006308.2 60 Gca/Aca 0 -HSPB9 UCSF GRCh37 17 40275126 40275126 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 164 19 141 0 ENST00000355067.3:c.258C>T p.Asp86= p.D86= ENST00000355067 NM_033194.2 86 gaC/gaT 0 -HSPB9 UCSF GRCh37 17 40275195 40275195 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 248 45 311 0 ENST00000355067.3:c.327C>T p.Asn109= p.N109= ENST00000355067 NM_033194.2 109 aaC/aaT 0 -HTRA3 UCSF GRCh37 4 8304200 8304200 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 21 223 0 ENST00000307358.2:c.1062G>A p.Lys354= p.K354= ENST00000307358 NM_053044.3 354 aaG/aaA 0 -HYAL2 UCSF GRCh37 3 50357515 50357515 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 70 169 0 ENST00000357750.4:c.406G>A p.Asp136Asn p.D136N ENST00000357750 NM_003773.4 136 Gac/Aac 0 -HYDIN UCSF GRCh37 16 70841568 70841568 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 35 138 0 ENST00000393567.2:c.15281C>T p.Thr5094Ile p.T5094I ENST00000393567 NM_001270974.1 5094 aCc/aTc 0 -HYI UCSF GRCh37 1 43917481 43917481 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 16 143 0 ENST00000372425.4:c.543C>T p.Leu181= p.L181= ENST00000372425 181 ctC/ctT 0 -IARS UCSF GRCh37 9 95009661 95009661 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 38 221 0 ENST00000375643.3:c.2789C>T p.Thr930Ile p.T930I ENST00000375643 NM_013417.3 930 aCt/aTt 0 -IBTK UCSF GRCh37 6 82936964 82936964 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 204 33 332 0 ENST00000306270.7:c.599C>T p.Thr200Ile p.T200I ENST00000306270 NM_015525.2 200 aCc/aTc 0 -ICA1L UCSF GRCh37 2 203644301 203644301 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 12 155 0 ENST00000358299.2:c.1404C>T p.Asn468= p.N468= ENST00000358299 468 aaC/aaT 0 -ID2 UCSF GRCh37 2 8822431 8822431 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 188 28 234 0 ENST00000234091.4:c.136C>T p.Leu46Phe p.L46F ENST00000234091 46 Ctc/Ttc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 9 8 28 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IER5 UCSF GRCh37 1 181058475 181058475 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 13 35 0 ENST00000367577.4:c.437G>A p.Gly146Glu p.G146E ENST00000367577 NM_016545.4 146 gGg/gAg 0 -IER5L UCSF GRCh37 9 131940255 131940255 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 14 131 0 ENST00000372491.2:c.77G>A p.Gly26Asp p.G26D ENST00000372491 NM_203434.2 26 gGc/gAc 0 -IFFO1 UCSF GRCh37 12 6660128 6660128 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 11 61 0 ENST00000396840.2:c.813C>T p.Asp271= p.D271= ENST00000396840 271 gaC/gaT 0 -IFIT2 UCSF GRCh37 10 91066329 91066329 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 36 338 0 ENST00000371826.3:c.616C>T p.Pro206Ser p.P206S ENST00000371826 NM_001547.4 206 Cct/Tct 0 -IFITM2 UCSF GRCh37 11 308246 308246 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 8 40 0 ENST00000399817.4:c.54C>T p.Asn18= p.N18= ENST00000399817 NM_006435.2 18 aaC/aaT 0 -IFITM3 UCSF GRCh37 11 319894 319894 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 18 203 0 ENST00000399808.4:c.346C>T p.Leu116Phe p.L116F ENST00000399808 NM_021034.2 116 Ctc/Ttc 0 -IFNA8 UCSF GRCh37 9 21409203 21409203 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 25 292 0 ENST00000380205.1:c.28G>A p.Ala10Thr p.A10T ENST00000380205 NM_002170.3 10 Gcc/Acc 0 -IFNAR2 UCSF GRCh37 21 34635415 34635415 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 58 197 0 ENST00000342136.4:c.1158G>A p.Gln386= p.Q386= ENST00000342136 386 caG/caA 0 -IFT80 UCSF GRCh37 3 159976317 159976317 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 18 139 0 ENST00000326448.7:c.2330C>T p.Pro777Leu p.P777L ENST00000326448 NM_020800.2 777 cCc/cTc 0 -IGF1R UCSF GRCh37 15 99465622 99465622 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 32 235 0 ENST00000268035.6:c.2447G>A p.Ser816Asn p.S816N ENST00000268035 NM_000875.3 816 aGc/aAc 0 -IGF2R UCSF GRCh37 6 160485892 160485892 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 39 257 0 ENST00000356956.1:c.4074G>A p.Gln1358= p.Q1358= ENST00000356956 NM_000876.2 1358 caG/caA 0 -IGFBP1 UCSF GRCh37 7 45928394 45928394 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 5 45 0 ENST00000275525.3:c.143G>A p.Cys48Tyr p.C48Y ENST00000275525 NM_000596.2 48 tGc/tAc 0 -IGLON5 UCSF GRCh37 19 51830417 51830417 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 15 147 0 ENST00000270642.8:c.730C>T p.Pro244Ser p.P244S ENST00000270642 NM_001101372.1 244 Ccc/Tcc 0 -IGSF3 UCSF GRCh37 1 117122089 117122089 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 14 145 0 ENST00000369486.3:c.3259C>T p.Pro1087Ser p.P1087S ENST00000369486 NM_001007237.2 1087 Ccc/Tcc 0 -IKBKB UCSF GRCh37 8 42129684 42129684 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 145 22 140 0 ENST00000520810.1:c.66G>A p.Gly22= p.G22= ENST00000520810 NM_001556.2 22 ggG/ggA 0 -IL17RB UCSF GRCh37 3 53890927 53890927 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 24 202 0 ENST00000288167.3:c.586G>A p.Val196Met p.V196M ENST00000288167 NM_018725.3 196 Gtg/Atg 0 -IL17RE UCSF GRCh37 3 9956252 9956252 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 191 29 214 0 ENST00000383814.3:c.1317G>A p.Gln439= p.Q439= ENST00000383814 NM_153480.1 439 caG/caA 0 -IL18 UCSF GRCh37 11 112025712 112025712 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.00273,snp132_rs61734549 P24_Rec2 Untested WXS Illumina HiSeq 90 38 171 0 ENST00000280357.7:c.65C>T p.Thr22Met p.T22M ENST00000280357 NM_001562.3 22 aCg/aTg 0 -IL1RAP UCSF GRCh37 3 190326923 190326923 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 11 139 0 ENST00000072516.3:c.490G>A p.Asp164Asn p.D164N ENST00000072516 NM_001167929.1 164 Gat/Aat 0 -IL1RAP UCSF GRCh37 3 190345117 190345117 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 11 138 0 ENST00000072516.3:c.781G>A p.Glu261Lys p.E261K ENST00000072516 NM_001167929.1 261 Gag/Aag 0 -IL20RB UCSF GRCh37 3 136710829 136710829 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 10 94 0 ENST00000329582.4:c.581C>T p.Thr194Ile p.T194I ENST00000329582 NM_144717.3 194 aCc/aTc 0 -IL21 UCSF GRCh37 4 123542065 123542065 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 80 290 0 ENST00000264497.3:c.102C>T p.Arg34= p.R34= ENST00000264497 NM_021803.3 34 cgC/cgT 0 -IL4R UCSF GRCh37 16 27353453 27353453 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 55 168 0 ENST00000395762.2:c.82G>A p.Val28Ile p.V28I ENST00000395762 NM_000418.3 28 Gtc/Atc 0 -IL4R UCSF GRCh37 16 27351507 27351507 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 30 71 0 ENST00000395762.2:c.-18G>A p.X6_splice ENST00000395762 NM_000418.3 0 -IMMP2L UCSF GRCh37 7 110303686 110303686 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 220 25 238 0 ENST00000331762.3:c.500G>A p.Arg167His p.R167H ENST00000331762 NM_001244606.1 167 cGc/cAc 0 -INADL UCSF GRCh37 1 62293175 62293175 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 13 48 0 ENST00000371158.2:c.1900G>A p.Val634Ile p.V634I ENST00000371158 NM_176877.2 634 Gtt/Att 0 -INO80D UCSF GRCh37 2 206874416 206874416 + stop_gained Nonsense_Mutation SNP T T A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 12 65 0 ENST00000403263.1:c.1645A>T p.Lys549Ter p.K549* ENST00000403263 NM_017759.4 549 Aag/Tag 0 -INPP1 UCSF GRCh37 2 191224847 191224847 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 11 34 0 ENST00000322522.4:c.19G>A p.Glu7Lys p.E7K ENST00000322522 NM_002194.3 7 Gag/Aag 0 -INPP5J UCSF GRCh37 22 31529913 31529913 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 19 133 0 ENST00000331075.5:c.2529C>T p.Ser843= p.S843= ENST00000331075 NM_001284285.1 843 tcC/tcT 0 -INTS1 UCSF GRCh37 7 1517564 1517564 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 10 5 24 0 ENST00000404767.3:c.4639G>A p.Gly1547Arg p.G1547R ENST00000404767 NM_001080453.2 1547 Ggg/Agg 0 -INTS12 UCSF GRCh37 4 106613132 106613132 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 12 121 0 ENST00000340139.5:c.657+1G>A p.X219_splice ENST00000340139 NM_020395.3 0 -INTS3 UCSF GRCh37 1 153737438 153737438 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 272 43 324 0 ENST00000318967.2:c.1989G>A p.Gln663= p.Q663= ENST00000318967 NM_023015.3 663 caG/caA 0 -INTS6 UCSF GRCh37 13 51952403 51952403 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 6 65 0 ENST00000311234.4:c.1574C>T p.Thr525Ile p.T525I ENST00000311234 NM_012141.2 525 aCt/aTt 0 -INTS9 UCSF GRCh37 8 28635391 28635391 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 13 132 0 ENST00000521022.1:c.1350C>T p.Thr450= p.T450= ENST00000521022 NM_018250.3 450 acC/acT 0 -IPO13 UCSF GRCh37 1 44415262 44415262 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 217 25 291 0 ENST00000372343.3:c.258C>T p.Ile86= p.I86= ENST00000372343 NM_014652.3 86 atC/atT 0 -IQCG UCSF GRCh37 3 197665484 197665484 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 24 343 0 ENST00000265239.6:c.450C>T p.Val150= p.V150= ENST00000265239 NM_032263.3 150 gtC/gtT 0 -IQCH UCSF GRCh37 15 67713652 67713652 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 10 101 0 ENST00000335894.4:c.2242C>T p.Pro748Ser p.P748S ENST00000335894 NM_001031715.2 748 Cct/Tct 0 -IQGAP1 UCSF GRCh37 15 90997763 90997763 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 11 129 0 ENST00000268182.5:c.1591G>A p.Val531Met p.V531M ENST00000268182 NM_003870.3 531 Gtg/Atg 0 -IQGAP1 UCSF GRCh37 15 91035809 91035809 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 8 106 0 ENST00000268182.5:c.4494G>A p.Arg1498= p.R1498= ENST00000268182 NM_003870.3 1498 agG/agA 0 -IQGAP3 UCSF GRCh37 1 156524122 156524122 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 13 91 0 ENST00000361170.2:c.1353C>T p.Asn451= p.N451= ENST00000361170 NM_178229.4 451 aaC/aaT 0 -IQSEC2 UCSF GRCh37 X 53350028 53350028 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 57 170 0 ENST00000396435.3:c.294C>T p.His98= p.H98= ENST00000396435 NM_001111125.2 98 caC/caT 0 -IRAK2 UCSF GRCh37 3 10280464 10280464 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 18 171 0 ENST00000256458.4:c.1506G>A p.Arg502= p.R502= ENST00000256458 NM_001570.3 502 cgG/cgA 0 -IRF5 UCSF GRCh37 7 128587398 128587398 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 16 79 0 ENST00000249375.4:c.548C>T p.Thr183Ile p.T183I ENST00000249375 NM_032643.3 183 aCt/aTt 0 -IRS2 UCSF GRCh37 13 110436746 110436746 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 32 230 0 ENST00000375856.3:c.1655G>A p.Cys552Tyr p.C552Y ENST00000375856 NM_003749.2 552 tGt/tAt 0 -ISLR2 UCSF GRCh37 15 74425298 74425298 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 16 123 0 ENST00000361742.3:c.203G>A p.Arg68His p.R68H ENST00000361742 NM_001130136.1 68 cGc/cAc 0 -ISM1 UCSF GRCh37 20 13251391 13251391 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 175 26 249 0 ENST00000262487.4:c.378+1G>A p.X126_splice ENST00000262487 NM_080826.1 0 -ITFG1 UCSF GRCh37 16 47494809 47494809 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 144 25 172 0 ENST00000320640.6:c.148C>T p.Leu50Phe p.L50F ENST00000320640 NM_030790.3 50 Ctt/Ttt 0 -ITGA11 UCSF GRCh37 15 68612657 68612657 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 13 104 0 ENST00000315757.7:c.2482G>A p.Val828Ile p.V828I ENST00000315757 NM_001004439.1 828 Gtc/Atc 0 -ITGAL UCSF GRCh37 16 30492887 30492887 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 160 25 206 0 ENST00000356798.6:c.704G>A p.Gly235Asp p.G235D ENST00000356798 NM_002209.2 235 gGt/gAt 0 -ITGAL UCSF GRCh37 16 30532967 30532967 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 5 33 0 ENST00000356798.6:c.3494G>A p.Ser1165Asn p.S1165N ENST00000356798 NM_002209.2 1165 aGt/aAt 0 -ITGAX UCSF GRCh37 16 31382817 31382817 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 237 34 351 1 ENST00000268296.4:c.2004C>T p.Ser668= p.S668= ENST00000268296 NM_000887.3 668 agC/agT 0 -ITIH3 UCSF GRCh37 3 52836799 52836799 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 16 99 0 ENST00000449956.2:c.1686C>T p.Thr562= p.T562= ENST00000449956 NM_002217.3 562 acC/acT 0 -ITPKB UCSF GRCh37 1 226924158 226924158 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 183 27 191 0 ENST00000272117.3:c.1002G>A p.Glu334= p.E334= ENST00000272117 334 gaG/gaA 0 -ITPR1 UCSF GRCh37 3 4699885 4699885 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 235 43 347 1 ENST00000354582.6:c.1074G>A p.Val358= p.V358= ENST00000354582 358 gtG/gtA 0 -ITPR2 UCSF GRCh37 12 26748513 26748513 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 5 95 0 ENST00000381340.3:c.4265C>T p.Ala1422Val p.A1422V ENST00000381340 NM_002223.2 1422 gCt/gTt 0 -ITPRIPL2 UCSF GRCh37 16 19126795 19126795 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 15 131 0 ENST00000381440.3:c.1012C>T p.Pro338Ser p.P338S ENST00000381440 NM_001034841.3 338 Cct/Tct 0 -ITSN1 UCSF GRCh37 21 35140087 35140087 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 17 192 0 ENST00000381318.3:c.997C>T p.Pro333Ser p.P333S ENST00000381318 NM_003024.2 333 Cca/Tca 0 -ITSN2 UCSF GRCh37 2 24432863 24432863 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 7 89 0 ENST00000355123.4:c.4297C>T p.Arg1433Trp p.R1433W ENST00000355123 NM_006277.2 1433 Cgg/Tgg 0 -ITSN2 UCSF GRCh37 2 24433813 24433813 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 4 42 0 ENST00000355123.4:c.4093C>T p.Leu1365= p.L1365= ENST00000355123 NM_006277.2 1365 Ctg/Ttg 0 -IWS1 UCSF GRCh37 2 128250901 128250901 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 12 102 0 ENST00000295321.4:c.1885C>T p.Pro629Ser p.P629S ENST00000295321 NM_017969.2 629 Cct/Tct 0 -JAG2 UCSF GRCh37 14 105609197 105609197 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 34 212 0 ENST00000331782.3:c.3552C>T p.Gly1184= p.G1184= ENST00000331782 NM_002226.4 1184 ggC/ggT 0 -JAKMIP1 UCSF GRCh37 4 6107536 6107536 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 33 244 0 ENST00000282924.5:c.288G>A p.Glu96= p.E96= ENST00000282924 NM_144720.3 96 gaG/gaA 0 -JAM2 UCSF GRCh37 21 27078290 27078290 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 49 176 0 ENST00000480456.1:c.698-1G>A p.X233_splice ENST00000480456 NM_001270407.1 0 -JMJD7-PLA2G4B UCSF GRCh37 15 42139646 42139646 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 258 47 390 0 ENST00000382448.4:c.2752C>T p.Pro918Ser p.P918S ENST00000382448 918 Ccc/Tcc 0 -KALRN UCSF GRCh37 3 124303687 124303687 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 6 45 0 ENST00000291478.5:c.19G>A p.Ala7Thr p.A7T ENST00000291478 NM_007064.3 7 Gct/Act 0 -KATNAL1 UCSF GRCh37 13 30804647 30804647 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 17 175 0 ENST00000380615.3:c.970G>A p.Ala324Thr p.A324T ENST00000380615 NM_032116.4 324 Gca/Aca 0 -KAZN UCSF GRCh37 1 15287323 15287323 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 6 29 0 ENST00000376030.2:c.370C>T p.Leu124= p.L124= ENST00000376030 NM_201628.2 124 Ctg/Ttg 0 -KBTBD12 UCSF GRCh37 3 127642929 127642929 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 7 115 0 ENST00000405109.1:c.1025C>T p.Ala342Val p.A342V ENST00000405109 342 gCc/gTc 0 -KBTBD7 UCSF GRCh37 13 41768322 41768322 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 262 45 331 0 ENST00000379483.3:c.72G>A p.Arg24= p.R24= ENST00000379483 NM_032138.4 24 agG/agA 0 -KBTBD8 UCSF GRCh37 3 67058550 67058550 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 43 152 0 ENST00000417314.2:c.1547C>T p.Pro516Leu p.P516L ENST00000417314 516 cCa/cTa 0 -KCNA10 UCSF GRCh37 1 111060543 111060543 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 25 155 0 ENST00000369771.2:c.867G>A p.Arg289= p.R289= ENST00000369771 NM_005549.2 289 cgG/cgA 0 -KCNA4 UCSF GRCh37 11 30033372 30033372 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 28 202 0 ENST00000328224.6:c.854C>T p.Pro285Leu p.P285L ENST00000328224 NM_002233.3 285 cCc/cTc 0 -KCNAB1 UCSF GRCh37 3 156009754 156009754 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 18 218 0 ENST00000490337.1:c.276-129651C>T *92* ENST00000490337 NM_172160.2 0 -KCNH6 UCSF GRCh37 17 61615962 61615962 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 13 118 0 ENST00000583023.1:c.1893C>T p.Leu631= p.L631= ENST00000583023 NM_030779.3 631 ctC/ctT 0 -KCNH6 UCSF GRCh37 17 61613308 61613308 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 236 45 331 0 ENST00000583023.1:c.1380G>A p.Gln460= p.Q460= ENST00000583023 NM_030779.3 460 caG/caA 0 -KCNK16 UCSF GRCh37 6 39290301 39290301 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 4 28 0 ENST00000373229.5:c.16C>T p.Leu6Phe p.L6F ENST00000373229 NM_032115.3 6 Ctc/Ttc 0 -KCNK4 UCSF GRCh37 11 64060554 64060554 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 13 66 0 ENST00000394525.2:c.64C>T p.Leu22= p.L22= ENST00000394525 22 Ctg/Ttg 0 -KCNK6 UCSF GRCh37 19 38817562 38817562 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 405 74 524 0 ENST00000263372.3:c.652G>A p.Gly218Ser p.G218S ENST00000263372 NM_004823.1 218 Ggc/Agc 0 -KCNN2 UCSF GRCh37 5 113740307 113740307 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 24 231 0 ENST00000264773.3:c.755C>T p.Ala252Val p.A252V ENST00000264773 NM_001278204.1 252 gCt/gTt 0 -KCNQ4 UCSF GRCh37 1 41304096 41304096 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 373 58 483 0 ENST00000347132.5:c.1989C>T p.Asp663= p.D663= ENST00000347132 NM_004700.3 663 gaC/gaT 0 -KCNS2 UCSF GRCh37 8 99441166 99441166 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 27 227 0 ENST00000287042.4:c.959C>T p.Ala320Val p.A320V ENST00000287042 NM_020697.2 320 gCc/gTc 0 -KCNU1 UCSF GRCh37 8 36666241 36666241 + stop_gained Nonsense_Mutation SNP C C A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 50 179 0 ENST00000399881.3:c.662C>A p.Ser221Ter p.S221* ENST00000399881 NM_001031836.2 221 tCa/tAa 0 -KCTD18 UCSF GRCh37 2 201357981 201357981 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 25 215 0 ENST00000359878.3:c.678G>A p.Arg226= p.R226= ENST00000359878 NM_152387.2 226 cgG/cgA 0 -KCTD8 UCSF GRCh37 4 44449706 44449706 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 17 185 0 ENST00000360029.3:c.835G>A p.Ala279Thr p.A279T ENST00000360029 NM_198353.2 279 Gcc/Acc 0 -KCTD8 UCSF GRCh37 4 44449677 44449677 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 20 168 0 ENST00000360029.3:c.864C>T p.Phe288= p.F288= ENST00000360029 NM_198353.2 288 ttC/ttT 0 -KDELR1 UCSF GRCh37 19 48893746 48893746 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 15 166 0 ENST00000330720.2:c.127G>A p.Val43Met p.V43M ENST00000330720 NM_006801.2 43 Gtg/Atg 0 -KDELR3 UCSF GRCh37 22 38875687 38875687 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 68 245 0 ENST00000216014.4:c.282C>T p.Arg94= p.R94= ENST00000216014 NM_006855.3 94 cgC/cgT 0 -KDM1B UCSF GRCh37 6 18215319 18215319 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 11 74 1 ENST00000297792.5:c.1495C>T p.Gln499Ter p.Q499* ENST00000297792 499 Cag/Tag 0 -KDM2B UCSF GRCh37 12 122013723 122013723 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 49 156 0 ENST00000377071.4:c.313C>T p.Pro105Ser p.P105S ENST00000377071 NM_032590.4 105 Ccc/Tcc 0 -KDM3A UCSF GRCh37 2 86693750 86693750 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 190 29 258 0 ENST00000312912.5:c.1263G>A p.Lys421= p.K421= ENST00000312912 NM_018433.5 421 aaG/aaA 0 -KDM5B UCSF GRCh37 1 202715307 202715307 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 30 245 0 ENST00000367265.3:c.2161G>A p.Glu721Lys p.E721K ENST00000367265 NM_006618.3 721 Gaa/Aaa 0 -KDM5C UCSF GRCh37 X 53222430 53222430 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 25 143 0 ENST00000375401.3:c.4402G>A p.Glu1468Lys p.E1468K ENST00000375401 NM_004187.3 1468 Gag/Aag 0 -KIAA0247 UCSF GRCh37 14 70170146 70170146 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 12 82 0 ENST00000342745.4:c.156C>T p.Gly52= p.G52= ENST00000342745 NM_014734.3 52 ggC/ggT 0 -KIAA0284 UCSF GRCh37 14 105349562 105349562 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 13 143 0 ENST00000414716.3:c.768G>A p.Gly256= p.G256= ENST00000414716 NM_001112726.2 256 ggG/ggA 0 -KIAA0408 UCSF GRCh37 6 127767619 127767619 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 380 65 624 0 ENST00000483725.3:c.1845G>A p.Gln615= p.Q615= ENST00000483725 NM_014702.4 615 caG/caA 0 -KIAA0556 UCSF GRCh37 16 27763144 27763144 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 16 181 0 ENST00000261588.4:c.3451G>A p.Asp1151Asn p.D1151N ENST00000261588 NM_015202.2 1151 Gac/Aac 0 -KIAA0664 UCSF GRCh37 17 2607704 2607704 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 397 57 593 0 ENST00000435359.1:c.141C>T p.Gly47= p.G47= ENST00000435359 NM_015229.3 47 ggC/ggT 0 -KIAA0889 UCSF GRCh37 20 35422950 35422950 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 20 205 0 ENST00000237536.4:c.3535C>T p.Pro1179Ser p.P1179S ENST00000237536 NM_080627.2 1179 Cct/Tct 0 -KIAA0889 UCSF GRCh37 20 35422834 35422834 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 27 158 0 ENST00000237536.4:c.3651C>T p.Leu1217= p.L1217= ENST00000237536 NM_080627.2 1217 ctC/ctT 0 -KIAA1009 UCSF GRCh37 6 84862339 84862339 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 18 166 0 ENST00000403245.3:c.3554G>A p.Gly1185Glu p.G1185E ENST00000403245 NM_014895.2 1185 gGa/gAa 0 -KIAA1009 UCSF GRCh37 6 84836120 84836120 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 357 69 574 0 ENST00000403245.3:c.3982C>T p.Gln1328Ter p.Q1328* ENST00000403245 NM_014895.2 1328 Caa/Taa 0 -KIAA1033 UCSF GRCh37 12 105520060 105520060 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 14 139 0 ENST00000332180.5:c.958G>A p.Gly320Arg p.G320R ENST00000332180 NM_015275.1 320 Gga/Aga 0 -BLTP1 UCSF GRCh37 4 123160789 123160789 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 22 261 0 ENST00000264501.4:c.3952C>T p.Leu1318Phe p.L1318F ENST00000264501 1318 Ctt/Ttt 0 -BLTP1 UCSF GRCh37 4 123161284 123161284 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 246 42 417 0 ENST00000264501.4:c.4447G>A p.Glu1483Lys p.E1483K ENST00000264501 1483 Gaa/Aaa 0 -BLTP1 UCSF GRCh37 4 123185567 123185567 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 40 178 0 ENST00000264501.4:c.7302G>A p.Gln2434= p.Q2434= ENST00000264501 2434 caG/caA 0 -KIAA1217 UCSF GRCh37 10 24790376 24790376 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 15 123 0 ENST00000376454.3:c.1903C>T p.Pro635Ser p.P635S ENST00000376454 NM_019590.3 635 Cca/Tca 0 -KIAA1217 UCSF GRCh37 10 24833394 24833394 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 439 58 333 0 ENST00000376454.3:c.5195C>T p.Pro1732Leu p.P1732L ENST00000376454 NM_019590.3 1732 cCt/cTt 0 -KIAA1217 UCSF GRCh37 10 24809110 24809110 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 27 78 0 ENST00000376454.3:c.2236G>A p.Val746Ile p.V746I ENST00000376454 NM_019590.3 746 Gtt/Att 0 -KIAA1239 UCSF GRCh37 4 37440706 37440706 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 30 246 0 ENST00000309447.5:c.990C>T p.Tyr330= p.Y330= ENST00000309447 NM_001144990.1 330 taC/taT 0 -KIAA1239 UCSF GRCh37 4 37445900 37445900 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 21 197 0 ENST00000309447.5:c.2290C>T p.Leu764= p.L764= ENST00000309447 NM_001144990.1 764 Ctg/Ttg 0 -KIAA1239 UCSF GRCh37 4 37440478 37440478 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 16 138 0 ENST00000309447.5:c.762G>A p.Lys254= p.K254= ENST00000309447 NM_001144990.1 254 aaG/aaA 0 -KIAA1244 UCSF GRCh37 6 138576629 138576629 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 309 50 474 0 ENST00000251691.4:c.827C>T p.Thr276Ile p.T276I ENST00000251691 NM_020340.4 276 aCc/aTc 0 -KIAA1274 UCSF GRCh37 10 72285826 72285826 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 14 89 0 ENST00000263563.6:c.119G>A p.Ser40Asn p.S40N ENST00000263563 NM_014431.2 40 aGc/aAc 0 -KIAA1383 UCSF GRCh37 1 232943021 232943021 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 17 256 0 ENST00000418460.1:c.2252G>A p.Arg751Lys p.R751K ENST00000418460 NM_019090.2 751 aGa/aAa 0 -KIAA1432 UCSF GRCh37 9 5772967 5772967 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 15 151 0 ENST00000414202.2:c.3870C>T p.Ser1290= p.S1290= ENST00000414202 NM_001206557.1 1290 tcC/tcT 0 -KIAA1522 UCSF GRCh37 1 33207765 33207765 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 3 23 0 ENST00000401073.2:c.210C>T p.Ala70= p.A70= ENST00000401073 NM_020888.2 70 gcC/gcT 0 -KIAA1671 UCSF GRCh37 22 25581079 25581079 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 8 58 0 ENST00000358431.3:c.5335G>A p.Asp1779Asn p.D1779N ENST00000358431 NM_001145206.1 1779 Gat/Aat 0 -KIAA1683 UCSF GRCh37 19 18376086 18376086 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 24 123 0 ENST00000600328.3:c.2264G>A p.Cys755Tyr p.C755Y ENST00000600328 755 tGc/tAc 0 -KIAA1731 UCSF GRCh37 11 93402014 93402014 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 8 57 0 ENST00000325212.6:c.350G>A p.Arg117Lys p.R117K ENST00000325212 117 aGg/aAg 0 -KIAA1797 UCSF GRCh37 9 20789539 20789539 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 6 109 0 ENST00000338382.6:c.1387G>A p.Asp463Asn p.D463N ENST00000338382 463 Gac/Aac 0 -KIAA1797 UCSF GRCh37 9 20720401 20720401 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 17 166 0 ENST00000338382.6:c.155G>A p.Trp52Ter p.W52* ENST00000338382 52 tGg/tAg 0 -KIAA1984 UCSF GRCh37 9 139694861 139694861 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 196 27 292 0 ENST00000338005.6:c.459C>T p.Asn153= p.N153= ENST00000338005 NM_001039374.4 153 aaC/aaT 0 -KIAA2026 UCSF GRCh37 9 6007765 6007765 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 49 124 0 ENST00000399933.3:c.23G>A p.Gly8Glu p.G8E ENST00000399933 NM_001017969.2 8 gGa/gAa 0 -KIF13A UCSF GRCh37 6 17785781 17785781 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 204 34 326 0 ENST00000259711.6:c.3453C>T p.Ala1151= p.A1151= ENST00000259711 NM_022113.5 1151 gcC/gcT 0 -KIF14 UCSF GRCh37 1 200559261 200559261 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 12 98 0 ENST00000367350.4:c.2953G>A p.Ala985Thr p.A985T ENST00000367350 NM_014875.2 985 Gca/Aca 0 -KIF16B UCSF GRCh37 20 16359469 16359469 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 43 0 ENST00000354981.2:c.3178C>T p.Leu1060= p.L1060= ENST00000354981 NM_024704.4 1060 Ctg/Ttg 0 -KIF18B UCSF GRCh37 17 43011932 43011932 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 62 223 0 ENST00000593135.1:c.630C>T p.Arg210= p.R210= ENST00000593135 NM_001265577.1 210 cgC/cgT 0 -KIF1A UCSF GRCh37 2 241660422 241660422 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 12 98 0 ENST00000320389.7:c.4474C>T p.Pro1492Ser p.P1492S ENST00000320389 NM_004321.6 1492 Ccg/Tcg 0 -KIF1A UCSF GRCh37 2 241685214 241685214 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 67 0 ENST00000320389.7:c.3012G>A p.Val1004= p.V1004= ENST00000320389 NM_004321.6 1004 gtG/gtA 0 -KIF20B UCSF GRCh37 10 91478491 91478491 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 24 290 0 ENST00000371728.3:c.1296G>A p.Arg432= p.R432= ENST00000371728 NM_001284259.1 432 cgG/cgA 0 -KIF21B UCSF GRCh37 1 200978397 200978397 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 23 122 0 ENST00000422435.2:c.261G>A p.Gly87= p.G87= ENST00000422435 NM_001252100.1 87 ggG/ggA 0 -KIF26A UCSF GRCh37 14 104640048 104640048 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 6 38 0 ENST00000423312.2:c.1873G>A p.Gly625Arg p.G625R ENST00000423312 NM_015656.1 625 Gga/Aga 0 -KIRREL UCSF GRCh37 1 158064889 158064889 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 287 53 329 0 ENST00000359209.6:c.2253G>A p.Gln751= p.Q751= ENST00000359209 751 caG/caA 0 -KLF1 UCSF GRCh37 19 12997911 12997911 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 8 56 0 ENST00000264834.4:c.44C>T p.Thr15Ile p.T15I ENST00000264834 NM_006563.3 15 aCc/aTc 0 -KLF16 UCSF GRCh37 19 1863116 1863116 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 3 51 0 ENST00000250916.4:c.381C>T p.His127= p.H127= ENST00000250916 NM_031918.3 127 caC/caT 0 -KLF9 UCSF GRCh37 9 73002854 73002854 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 14 105 0 ENST00000377126.2:c.573C>T p.Thr191= p.T191= ENST00000377126 NM_001206.2 191 acC/acT 0 -KLHDC7A UCSF GRCh37 1 18807887 18807887 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 16 137 0 ENST00000400664.1:c.412C>T p.Pro138Ser p.P138S ENST00000400664 NM_152375.2 138 Cct/Tct 0 -KLHDC9 UCSF GRCh37 1 161068684 161068684 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 13 121 0 ENST00000368011.4:c.359G>A p.Trp120Ter p.W120* ENST00000368011 NM_152366.4 120 tGg/tAg 0 -KLHL1 UCSF GRCh37 13 70293505 70293505 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 16 160 0 ENST00000377844.4:c.2011G>A p.Glu671Lys p.E671K ENST00000377844 NM_020866.2 671 Gaa/Aaa 0 -KLHL15 UCSF GRCh37 X 24006440 24006440 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 161 63 247 0 ENST00000328046.8:c.1413G>A p.Lys471= p.K471= ENST00000328046 NM_030624.2 471 aaG/aaA 0 -KLHL29 UCSF GRCh37 2 23919339 23919339 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 5 54 0 ENST00000486442.1:c.2061C>T p.Thr687= p.T687= ENST00000486442 NM_052920.1 687 acC/acT 0 -KLHL30 UCSF GRCh37 2 239057685 239057685 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 57 169 0 ENST00000409223.1:c.1377G>A p.Lys459= p.K459= ENST00000409223 459 aaG/aaA 0 -KLHL4 UCSF GRCh37 X 86921482 86921482 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 13 4 34 0 ENST00000373119.4:c.2105C>T p.Pro702Leu p.P702L ENST00000373119 NM_019117.4 702 cCt/cTt 0 -KLK14 UCSF GRCh37 19 51581312 51581312 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 16 141 0 ENST00000156499.2:c.756C>T p.Asn252= p.N252= ENST00000156499 252 aaC/aaT 0 -KLK9 UCSF GRCh37 19 51509714 51509714 + missense_variant,splice_region_variant,NMD_transcript_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 24 0 ENST00000250366.6:c.466G>A p.Ala156Thr p.A156T ENST00000250366 NM_012315.1 156 Gcg/Acg 0 -KLRAQ1 UCSF GRCh37 2 48737178 48737178 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 13 108 0 ENST00000294952.8:c.2110G>A p.Ala704Thr p.A704T ENST00000294952 NM_001135629.2 704 Gcc/Acc 0 -KNTC1 UCSF GRCh37 12 123099634 123099634 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 45 321 0 ENST00000333479.7:c.5973+1G>A p.X1991_splice ENST00000333479 NM_014708.4 0 -KPNB1 UCSF GRCh37 17 45755444 45755444 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 177 28 227 0 ENST00000290158.4:c.2136G>A p.Gln712= p.Q712= ENST00000290158 NM_002265.5 712 caG/caA 0 -KRBA1 UCSF GRCh37 7 149422489 149422489 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 24 189 0 ENST00000319551.8:c.1210C>T p.Leu404= p.L404= ENST00000319551 404 Ctg/Ttg 0 -KREMEN2 UCSF GRCh37 16 3017392 3017392 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 7 28 0 ENST00000303746.5:c.1045G>A p.Gly349Arg p.G349R ENST00000303746 349 Ggg/Agg 0 -KREMEN2 UCSF GRCh37 16 3017388 3017388 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 3 24 0 ENST00000303746.5:c.1041C>T p.Leu347= p.L347= ENST00000303746 347 ctC/ctT 0 -KRT26 UCSF GRCh37 17 38928333 38928333 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 22 194 0 ENST00000335552.4:c.33G>A p.Arg11= p.R11= ENST00000335552 NM_181539.4 11 agG/agA 0 -KRT36 UCSF GRCh37 17 39642793 39642793 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 4 36 0 ENST00000328119.6:c.1239C>T p.Cys413= p.C413= ENST00000328119 NM_003771.4 413 tgC/tgT 0 -KRT38 UCSF GRCh37 17 39596854 39596854 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 21 231 0 ENST00000246646.3:c.320C>T p.Thr107Ile p.T107I ENST00000246646 NM_006771.3 107 aCc/aTc 0 -KRT74 UCSF GRCh37 12 52967372 52967372 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 23 136 0 ENST00000305620.2:c.190G>A p.Ala64Thr p.A64T ENST00000305620 NM_175053.3 64 Gct/Act 0 -KRT76 UCSF GRCh37 12 53165733 53165733 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 23 232 0 ENST00000332411.2:c.1185G>A p.Arg395= p.R395= ENST00000332411 NM_015848.4 395 agG/agA 0 -KRT84 UCSF GRCh37 12 52771896 52771896 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 4 38 1 ENST00000257951.3:c.1725C>T p.Gly575= p.G575= ENST00000257951 NM_033045.3 575 ggC/ggT 0 -KRTAP13-2 UCSF GRCh37 21 31744248 31744248 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 22 212 0 ENST00000399889.2:c.284C>T p.Thr95Ile p.T95I ENST00000399889 NM_181621.3 95 aCt/aTt 0 -KRTAP4-11 UCSF GRCh37 17 39274332 39274332 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 11 23 0 ENST00000391413.2:c.236G>A p.Cys79Tyr p.C79Y ENST00000391413 NM_033059.3 79 tGc/tAc 0 -KY UCSF GRCh37 3 134369669 134369669 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 12 101 0 ENST00000423778.2:c.134G>A p.Gly45Glu p.G45E ENST00000423778 NM_178554.4 45 gGa/gAa 0 -L3MBTL1 UCSF GRCh37 20 42169455 42169455 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 237 42 336 0 ENST00000427442.2:c.2328G>A p.Glu776= p.E776= ENST00000427442 776 gaG/gaA 0 -L3MBTL3 UCSF GRCh37 6 130370449 130370449 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 242 31 350 0 ENST00000361794.2:c.125C>T p.Ala42Val p.A42V ENST00000361794 NM_032438.2 42 gCc/gTc 0 -LAMA3 UCSF GRCh37 18 21481116 21481116 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 5 32 0 ENST00000313654.9:c.6030G>A p.Gln2010= p.Q2010= ENST00000313654 NM_198129.1 2010 caG/caA 0 -LAMA4 UCSF GRCh37 6 112438987 112438987 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 8 99 0 ENST00000230538.7:c.4936G>A p.Glu1646Lys p.E1646K ENST00000230538 NM_001105206.2 1646 Gaa/Aaa 0 -LAMB1 UCSF GRCh37 7 107603473 107603473 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 7 90 0 ENST00000222399.6:c.1734C>T p.Asp578= p.D578= ENST00000222399 NM_002291.2 578 gaC/gaT 0 -LAMB2 UCSF GRCh37 3 49161261 49161261 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 24 198 0 ENST00000305544.4:c.3697C>T p.His1233Tyr p.H1233Y ENST00000305544 1233 Cac/Tac 0 -LAMB4 UCSF GRCh37 7 107704388 107704388 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 10 77 0 ENST00000205386.4:c.2879C>T p.Pro960Leu p.P960L ENST00000205386 960 cCa/cTa 0 -LAMC2 UCSF GRCh37 1 183197619 183197619 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 16 144 0 ENST00000264144.4:c.1579G>A p.Ala527Thr p.A527T ENST00000264144 NM_005562.2 527 Gcc/Acc 0 -LAMP3 UCSF GRCh37 3 182871876 182871876 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 11 91 0 ENST00000265598.3:c.353C>T p.Pro118Leu p.P118L ENST00000265598 NM_014398.3 118 cCt/cTt 0 -LARGE UCSF GRCh37 22 33712154 33712154 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 3 32 0 ENST00000354992.2:c.1368C>T p.Thr456= p.T456= ENST00000354992 NM_004737.4 456 acC/acT 0 -LARS2 UCSF GRCh37 3 45436039 45436039 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 6 58 0 ENST00000265537.3:c.94G>A p.Val32Ile p.V32I ENST00000265537 NM_015340.3 32 Gta/Ata 0 -LAT UCSF GRCh37 16 28997983 28997983 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 94 223 0 ENST00000360872.5:c.433G>A p.Ala145Thr p.A145T ENST00000360872 145 Gcc/Acc 0 -LATS1 UCSF GRCh37 6 150004816 150004816 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 28 194 0 ENST00000253339.5:c.1409G>A p.Gly470Glu p.G470E ENST00000253339 470 gGa/gAa 0 -LATS2 UCSF GRCh37 13 21563229 21563229 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 10 87 0 ENST00000382592.4:c.690C>T p.His230= p.H230= ENST00000382592 NM_014572.2 230 caC/caT 0 -LBR UCSF GRCh37 1 225600175 225600175 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 4 30 0 ENST00000272163.4:c.1065C>T p.Asp355= p.D355= ENST00000272163 NM_002296.3 355 gaC/gaT 0 -LCA5L UCSF GRCh37 21 40778481 40778481 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 214 31 364 0 ENST00000288350.3:c.1340G>A p.Arg447Lys p.R447K ENST00000288350 447 aGa/aAa 0 -LCK UCSF GRCh37 1 32751172 32751172 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 4 32 0 ENST00000336890.5:c.1385C>T p.Pro462Leu p.P462L ENST00000336890 NM_005356.3 462 cCt/cTt 0 -LCMT2 UCSF GRCh37 15 43621541 43621541 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 288 57 428 0 ENST00000305641.5:c.1147C>T p.His383Tyr p.H383Y ENST00000305641 NM_014793.4 383 Cac/Tac 0 -LENG8 UCSF GRCh37 19 54966627 54966627 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 12 47 0 ENST00000326764.5:c.906C>T p.Thr302= p.T302= ENST00000326764 NM_052925.2 302 acC/acT 0 -LEPREL1 UCSF GRCh37 3 189688682 189688682 + splice_acceptor_variant Splice_Site SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 40 134 0 ENST00000319332.5:c.1818-2A>G p.X606_splice ENST00000319332 NM_018192.3 0 -LEPREL1 UCSF GRCh37 3 189713109 189713109 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 7 40 0 ENST00000319332.5:c.603G>A p.Gln201= p.Q201= ENST00000319332 NM_018192.3 201 caG/caA 0 -LEPREL2 UCSF GRCh37 12 6937907 6937907 + upstream_gene_variant 5'Flank SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 5 22 0 ENST00000290510 0 -LEPREL4 UCSF GRCh37 17 39968144 39968144 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 19 137 0 ENST00000355468.3:c.24G>A p.Leu8= p.L8= ENST00000355468 8 ctG/ctA 0 -LGALS12 UCSF GRCh37 11 63276249 63276249 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 217 37 284 0 ENST00000394618.3:c.225-1G>A p.X75_splice ENST00000394618 NM_033101.3 0 -LGALS2 UCSF GRCh37 22 37966674 37966674 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 22 246 0 ENST00000215886.4:c.158C>T p.Ser53Phe p.S53F ENST00000215886 NM_006498.2 53 tCc/tTc 0 -LGALS3BP UCSF GRCh37 17 76969137 76969137 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 25 218 0 ENST00000262776.3:c.544G>A p.Ala182Thr p.A182T ENST00000262776 NM_005567.3 182 Gcc/Acc 0 -LGALS3BP UCSF GRCh37 17 76968372 76968372 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 27 213 0 ENST00000262776.3:c.1044C>T p.Phe348= p.F348= ENST00000262776 NM_005567.3 348 ttC/ttT 0 -LGALS8 UCSF GRCh37 1 236706260 236706260 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 27 264 0 ENST00000341872.6:c.549+173G>A *183* ENST00000341872 NM_201543.2 0 -LGR5 UCSF GRCh37 12 71977498 71977498 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 394 71 546 0 ENST00000266674.5:c.1708C>T p.Leu570= p.L570= ENST00000266674 NM_001277226.1 570 Ctg/Ttg 0 -LGSN UCSF GRCh37 6 63990557 63990557 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 23 243 0 ENST00000370657.4:c.899C>T p.Ala300Val p.A300V ENST00000370657 300 gCc/gTc 0 -LHCGR UCSF GRCh37 2 48958435 48958435 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 14 156 0 ENST00000294954.7:c.164C>T p.Ser55Leu p.S55L ENST00000294954 NM_000233.3 55 tCa/tTa 0 -LHX8 UCSF GRCh37 1 75602876 75602876 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 263 44 359 0 ENST00000294638.5:c.197C>T p.Ser66Phe p.S66F ENST00000294638 NM_001001933.1 66 tCc/tTc 0 -LIFR UCSF GRCh37 5 38481941 38481941 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 194 27 292 0 ENST00000263409.4:c.3050C>T p.Ala1017Val p.A1017V ENST00000263409 NM_002310.5 1017 gCt/gTt 0 -LILRB2 UCSF GRCh37 19 54781751 54781751 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 9 82 0 ENST00000391749.4:c.1301C>T p.Ser434Phe p.S434F ENST00000391749 NM_001278406.1 434 tCc/tTc 0 -LIMA1 UCSF GRCh37 12 50616006 50616006 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 59 148 0 ENST00000341247.4:c.428C>T p.Pro143Leu p.P143L ENST00000341247 NM_016357.4 143 cCc/cTc 0 -LIMK1 UCSF GRCh37 7 73513509 73513509 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 21 206 0 ENST00000336180.2:c.549C>T p.Asp183= p.D183= ENST00000336180 NM_002314.3 183 gaC/gaT 0 -LIMS2 UCSF GRCh37 2 128400530 128400530 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 5 49 0 ENST00000355119.4:c.477C>T p.Tyr159= p.Y159= ENST00000355119 NM_001161403.1 159 taC/taT 0 -LIN7C UCSF GRCh37 11 27520323 27520323 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 15 143 0 ENST00000278193.2:c.467C>T p.Ala156Val p.A156V ENST00000278193 NM_018362.3 156 gCt/gTt 0 -LLGL2 UCSF GRCh37 17 73567161 73567161 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 17 186 0 ENST00000392550.3:c.2156C>T p.Ala719Val p.A719V ENST00000392550 NM_001031803.1 719 gCt/gTt 0 -LMO7 UCSF GRCh37 13 76395518 76395518 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 28 248 0 ENST00000465261.2:c.1714G>A p.Val572Ile p.V572I ENST00000465261 NM_015842.2 572 Gta/Ata 0 -LMOD1 UCSF GRCh37 1 201868704 201868704 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 235 46 390 0 ENST00000367288.4:c.1437G>A p.Leu479= p.L479= ENST00000367288 NM_012134.2 479 ctG/ctA 0 -LMTK2 UCSF GRCh37 7 97821000 97821000 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 15 95 0 ENST00000297293.5:c.1223C>T p.Thr408Ile p.T408I ENST00000297293 NM_014916.3 408 aCt/aTt 0 -LONP2 UCSF GRCh37 16 48385588 48385588 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 8 65 0 ENST00000285737.4:c.2434C>T p.Pro812Ser p.P812S ENST00000285737 NM_031490.2 812 Cca/Tca 0 -LOX UCSF GRCh37 5 121409721 121409721 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 13 158 0 ENST00000231004.4:c.1022C>T p.Thr341Ile p.T341I ENST00000231004 NM_002317.5 341 aCt/aTt 0 -LOXHD1 UCSF GRCh37 18 44057582 44057582 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 24 164 0 ENST00000300591.6:c.3307+35C>T *1103* ENST00000300591 NM_001145472.2 0 -LPAR4 UCSF GRCh37 X 78010399 78010399 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 25 103 0 ENST00000435339.3:c.33C>T p.Phe11= p.F11= ENST00000435339 NM_005296.2 11 ttC/ttT 0 -LPHN3 UCSF GRCh37 4 62679599 62679599 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 231 33 352 0 ENST00000514591.1:c.1268C>T p.Ser423Phe p.S423F ENST00000514591 423 tCt/tTt 0 -LPIN3 UCSF GRCh37 20 39980780 39980780 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 24 226 0 ENST00000373257.3:c.1283C>T p.Pro428Leu p.P428L ENST00000373257 NM_022896.1 428 cCt/cTt 0 -LPO UCSF GRCh37 17 56343536 56343536 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 28 158 0 ENST00000262290.4:c.1542G>A p.Arg514= p.R514= ENST00000262290 NM_006151.2 514 cgG/cgA 0 -LPP UCSF GRCh37 3 188426154 188426154 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 194 32 263 0 ENST00000312675.4:c.1213G>A p.Glu405Lys p.E405K ENST00000312675 NM_005578.3 405 Gaa/Aaa 0 -LPPR3 UCSF GRCh37 19 815058 815058 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 9 83 0 ENST00000520876.3:c.427G>A p.Ala143Thr p.A143T ENST00000520876 NM_001270366.1 143 Gcc/Acc 0 -LRBA UCSF GRCh37 4 151849989 151849989 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 19 265 0 ENST00000357115.3:c.445G>A p.Ala149Thr p.A149T ENST00000357115 NM_006726.4 149 Gca/Aca 0 -LRIG2 UCSF GRCh37 1 113616265 113616265 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 19 120 0 ENST00000361127.5:c.237C>T p.Ile79= p.I79= ENST00000361127 NM_014813.1 79 atC/atT 0 -LRP1 UCSF GRCh37 12 57594524 57594524 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 12 135 0 ENST00000243077.3:c.10151G>A p.Gly3384Asp p.G3384D ENST00000243077 NM_002332.2 3384 gGt/gAt 0 -LRP1 UCSF GRCh37 12 57539009 57539009 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 291 63 352 0 ENST00000243077.3:c.578-1G>A p.X193_splice ENST00000243077 NM_002332.2 0 -LRP10 UCSF GRCh37 14 23346348 23346348 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 25 182 0 ENST00000359591.4:c.1754C>T p.Ser585Phe p.S585F ENST00000359591 NM_014045.3 585 tCt/tTt 0 -LRP10 UCSF GRCh37 14 23345910 23345910 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 171 21 209 0 ENST00000359591.4:c.1437C>T p.Pro479= p.P479= ENST00000359591 NM_014045.3 479 ccC/ccT 0 -LRP10 UCSF GRCh37 14 23344297 23344297 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 473 284 799 0 ENST00000359591.4:c.249G>A p.Glu83= p.E83= ENST00000359591 NM_014045.3 83 gaG/gaA 0 -LRP12 UCSF GRCh37 8 105503379 105503379 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.0014 P24_Rec2 Untested WXS Illumina HiSeq 115 29 150 0 ENST00000276654.5:c.2102G>A p.Arg701Gln p.R701Q ENST00000276654 NM_013437.4 701 cGa/cAa 0 -LRP6 UCSF GRCh37 12 12419625 12419625 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 177 26 208 0 ENST00000261349.4:c.45G>A p.Val15= p.V15= ENST00000261349 NM_002336.2 15 gtG/gtA 0 -LRRC14B UCSF GRCh37 5 195220 195220 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 4 44 0 ENST00000328278.3:c.1297G>A p.Gly433Ser p.G433S ENST00000328278 NM_001080478.1 433 Ggt/Agt 0 -LRRC16B UCSF GRCh37 14 24531989 24531989 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 11 97 0 ENST00000342740.5:c.2640C>T p.Ser880= p.S880= ENST00000342740 NM_138360.3 880 tcC/tcT 0 -LRRC33 UCSF GRCh37 3 196387682 196387682 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 186 31 265 0 ENST00000328557.4:c.1168G>A p.Glu390Lys p.E390K ENST00000328557 NM_198565.1 390 Gag/Aag 0 -LRRC33 UCSF GRCh37 3 196386848 196386848 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 14 127 0 ENST00000328557.4:c.334C>T p.Leu112= p.L112= ENST00000328557 NM_198565.1 112 Ctg/Ttg 0 -LRRC43 UCSF GRCh37 12 122675926 122675926 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 8 66 0 ENST00000339777.4:c.902-1G>A p.X301_splice ENST00000339777 NM_152759.4 0 -LRRC4B UCSF GRCh37 19 51021391 51021391 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 29 197 0 ENST00000389201.3:c.1579C>T p.Pro527Ser p.P527S ENST00000389201 NM_001080457.1 527 Cct/Tct 0 -LRRC4C UCSF GRCh37 11 40137452 40137452 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 91 320 0 ENST00000278198.2:c.391C>T p.Leu131Phe p.L131F ENST00000278198 131 Ctc/Ttc 0 -LRRC61 UCSF GRCh37 7 150034302 150034302 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 289 40 253 0 ENST00000323078.7:c.352C>T p.Leu118= p.L118= ENST00000323078 NM_023942.2 118 Ctg/Ttg 0 -LRRC8A UCSF GRCh37 9 131669632 131669632 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 210 42 312 0 ENST00000259324.5:c.189C>T p.Asp63= p.D63= ENST00000259324 NM_001127244.1 63 gaC/gaT 0 -LRRC8B UCSF GRCh37 1 90049588 90049588 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 40 330 0 ENST00000330947.2:c.1379C>T p.Ser460Leu p.S460L ENST00000330947 NM_001134476.1 460 tCa/tTa 0 -LRRC8B UCSF GRCh37 1 90049725 90049725 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 23 169 0 ENST00000330947.2:c.1516G>A p.Val506Ile p.V506I ENST00000330947 NM_001134476.1 506 Gta/Ata 0 -LRRC8B UCSF GRCh37 1 90050269 90050269 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 323 64 526 0 ENST00000330947.2:c.2060G>A p.Ser687Asn p.S687N ENST00000330947 NM_001134476.1 687 aGc/aAc 0 -LRRC8E UCSF GRCh37 19 7963609 7963609 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 272 32 261 0 ENST00000306708.6:c.202C>T p.Pro68Ser p.P68S ENST00000306708 NM_025061.4 68 Ccg/Tcg 0 -LRRFIP1 UCSF GRCh37 2 238683017 238683017 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 9 49 0 ENST00000308482.9:c.1724G>A p.Ser575Asn p.S575N ENST00000308482 NM_001137550.1 575 aGt/aAt 0 -LRRN4 UCSF GRCh37 20 6031501 6031501 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 7 103 0 ENST00000378858.4:c.784G>A p.Asp262Asn p.D262N ENST00000378858 NM_152611.4 262 Gac/Aac 0 -LRWD1 UCSF GRCh37 7 102110255 102110255 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 261 46 313 0 ENST00000292616.5:c.1368C>T p.Asp456= p.D456= ENST00000292616 NM_152892.1 456 gaC/gaT 0 -LTA UCSF GRCh37 6 31541433 31541433 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 38 278 0 ENST00000454783.1:c.581G>A p.Ser194Asn p.S194N ENST00000454783 NM_001159740.2 194 aGc/aAc 0 -LTBP1 UCSF GRCh37 2 33590523 33590523 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 4 32 0 ENST00000404816.2:c.4664G>A p.Gly1555Glu p.G1555E ENST00000404816 1555 gGa/gAa 0 -LTBP4 UCSF GRCh37 19 41128865 41128865 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 70 191 0 ENST00000308370.7:c.3693G>A p.Gln1231= p.Q1231= ENST00000308370 NM_001042544.1 1231 caG/caA 0 -LUZP1 UCSF GRCh37 1 23418977 23418977 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 305 48 390 0 ENST00000302291.4:c.1778G>A p.Ser593Asn p.S593N ENST00000302291 593 aGt/aAt 0 -LY6G6F UCSF GRCh37 6 31675669 31675669 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 19 143 0 ENST00000375832.4:c.404C>T p.Ala135Val p.A135V ENST00000375832 NM_001003693.1 135 gCt/gTt 0 -LYG2 UCSF GRCh37 2 99860569 99860569 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 15 130 0 ENST00000333017.2:c.413C>T p.Ala138Val p.A138V ENST00000333017 NM_175735.3 138 gCc/gTc 0 -LYL1 UCSF GRCh37 19 13211472 13211472 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 737 87 717 0 ENST00000264824.4:c.426G>A p.Glu142= p.E142= ENST00000264824 NM_005583.4 142 gaG/gaA 0 -MAB21L2 UCSF GRCh37 4 151504418 151504418 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 20 186 0 ENST00000317605.4:c.237C>T p.Tyr79= p.Y79= ENST00000317605 NM_006439.4 79 taC/taT 0 -MACF1 UCSF GRCh37 1 39846008 39846008 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 8 87 0 ENST00000372915.3:c.13626G>A p.Gln4542= p.Q4542= ENST00000372915 4542 caG/caA 0 -MAEL UCSF GRCh37 1 166973532 166973532 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 11 101 0 ENST00000367872.4:c.639C>T p.Ile213= p.I213= ENST00000367872 NM_032858.1 213 atC/atT 0 -MAGED1 UCSF GRCh37 X 51640158 51640158 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 11 144 0 ENST00000326587.7:c.1407C>T p.Ala469= p.A469= ENST00000326587 NM_006986.3 469 gcC/gcT 0 -MAGEF1 UCSF GRCh37 3 184429328 184429328 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 584 91 780 0 ENST00000317897.3:c.282G>A p.Lys94= p.K94= ENST00000317897 NM_022149.4 94 aaG/aaA 0 -MAGEL2 UCSF GRCh37 15 23889682 23889682 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 203 27 277 0 ENST00000532292.1:c.1399G>A p.Glu467Lys p.E467K ENST00000532292 NM_019066.4 467 Gag/Aag 0 -MAGEL2 UCSF GRCh37 15 23890315 23890315 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 33 215 0 ENST00000532292.1:c.766G>A p.Ala256Thr p.A256T ENST00000532292 NM_019066.4 256 Gca/Aca 0 -MAK16 UCSF GRCh37 8 33354807 33354807 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 13 89 0 ENST00000360128.6:c.697G>A p.Asp233Asn p.D233N ENST00000360128 NM_032509.3 233 Gat/Aat 0 -MAOB UCSF GRCh37 X 43655077 43655077 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 27 165 0 ENST00000378069.4:c.677G>A p.Gly226Glu p.G226E ENST00000378069 NM_000898.4 226 gGa/gAa 0 -MAP1A UCSF GRCh37 15 43818123 43818123 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 12 120 0 ENST00000300231.5:c.4452C>T p.Val1484= p.V1484= ENST00000300231 1484 gtC/gtT 0 -MAP2 UCSF GRCh37 2 210560342 210560342 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 82 238 0 ENST00000360351.4:c.3448G>A p.Gly1150Ser p.G1150S ENST00000360351 NM_002374.3 1150 Ggc/Agc 0 -MAP2K1 UCSF GRCh37 15 66727510 66727510 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 12 90 0 ENST00000307102.5:c.226G>A p.Ala76Thr p.A76T ENST00000307102 NM_002755.3 76 Gct/Act 0 -MAP2K1 UCSF GRCh37 15 66782084 66782084 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 273 58 396 0 ENST00000307102.5:c.1051G>A p.Asp351Asn p.D351N ENST00000307102 NM_002755.3 351 Gat/Aat 0 -MAP3K5 UCSF GRCh37 6 136926391 136926391 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 19 45 0 ENST00000359015.4:c.2635C>T p.Pro879Ser p.P879S ENST00000359015 NM_005923.3 879 Ccc/Tcc 0 -MAP3K6 UCSF GRCh37 1 27684060 27684060 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 21 196 0 ENST00000357582.2:c.3089G>A p.Arg1030His p.R1030H ENST00000357582 1030 cGt/cAt 0 -MAP3K6 UCSF GRCh37 1 27685280 27685280 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 24 124 0 ENST00000357582.2:c.2503C>T p.Leu835= p.L835= ENST00000357582 835 Ctg/Ttg 0 -MAP3K7 UCSF GRCh37 6 91226378 91226378 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 14 117 0 ENST00000369329.3:c.1663G>A p.Asp555Asn p.D555N ENST00000369329 NM_145331.2 555 Gac/Aac 0 -MAP4K3 UCSF GRCh37 2 39487780 39487780 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 18 180 0 ENST00000263881.3:c.2275C>T p.Pro759Ser p.P759S ENST00000263881 NM_003618.3 759 Cca/Tca 0 -MAP7D1 UCSF GRCh37 1 36643628 36643628 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 22 142 0 ENST00000373151.2:c.1534G>A p.Glu512Lys p.E512K ENST00000373151 NM_018067.3 512 Gag/Aag 0 -MAPK11 UCSF GRCh37 22 50705860 50705860 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 3 53 0 ENST00000330651.6:c.357C>T p.Cys119= p.C119= ENST00000330651 NM_002751.5 119 tgC/tgT 0 -MAPK8IP3 UCSF GRCh37 16 1816017 1816017 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 13 137 0 ENST00000250894.4:c.2500C>T p.Pro834Ser p.P834S ENST00000250894 NM_015133.3 834 Cca/Tca 0 -MAPKAP1 UCSF GRCh37 9 128434850 128434850 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 12 83 0 ENST00000265960.3:c.4G>A p.Ala2Thr p.A2T ENST00000265960 NM_001006617.1 2 Gcc/Acc 0 -MARK4 UCSF GRCh37 19 45769492 45769492 + missense_variant Missense_Mutation SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 46 207 0 ENST00000262891.4:c.502G>T p.Ala168Ser p.A168S ENST00000262891 NM_001199867.1 168 Gct/Tct 0 -MARS UCSF GRCh37 12 57882776 57882802 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TAACCCATTTTCCATTCTTGCATCAGA TAACCCATTTTCCATTCTTGCATCAGA AACCCATTTTCCCTTCTTGCCTCAGT NOVEL P24_Rec2 Untested WXS Illumina HiSeq 7 0 ENST00000262027.5:c.110-26_110delinsAACCCATTTTCCCTTCTTGCCTCAGT p.X37_splice ENST00000262027 NM_004990.3 0 -MARS UCSF GRCh37 12 57908940 57908940 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 797 102 262 1 ENST00000262027.5:c.2212G>A p.Ala738Thr p.A738T ENST00000262027 NM_004990.3 738 Gca/Aca 0 -MATN2 UCSF GRCh37 8 98943633 98943633 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 18 148 0 ENST00000254898.5:c.595G>A p.Val199Ile p.V199I ENST00000254898 NM_002380.3 199 Gta/Ata 0 -MATN2 UCSF GRCh37 8 98973655 98973655 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 19 195 0 ENST00000254898.5:c.855G>A p.Met285Ile p.M285I ENST00000254898 NM_002380.3 285 atG/atA 0 -MAVS UCSF GRCh37 20 3843000 3843000 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 8 84 0 ENST00000428216.2:c.565C>T p.Pro189Ser p.P189S ENST00000428216 NM_020746.4 189 Cct/Tct 0 -MBOAT7 UCSF GRCh37 19 54684759 54684759 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 5 63 0 ENST00000245615.1:c.585C>T p.Ala195= p.A195= ENST00000245615 NM_024298.3 195 gcC/gcT 0 -MBP UCSF GRCh37 18 74700469 74700469 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 8 81 0 ENST00000355994.2:c.732C>T p.Ser244= p.S244= ENST00000355994 NM_001025101.1 244 tcC/tcT 0 -MCF2L UCSF GRCh37 13 113718681 113718681 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 12 135 0 ENST00000375608.3:c.643G>A p.Asp215Asn p.D215N ENST00000375608 215 Gac/Aac 0 -MCM3AP UCSF GRCh37 21 47655304 47655304 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 34 245 0 ENST00000291688.1:c.5821G>A p.Ala1941Thr p.A1941T ENST00000291688 NM_003906.3 1941 Gcg/Acg 0 -MCM3AP UCSF GRCh37 21 47664949 47664949 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 20 193 1 ENST00000291688.1:c.4810G>A p.Glu1604Lys p.E1604K ENST00000291688 NM_003906.3 1604 Gag/Aag 0 -MCM5 UCSF GRCh37 22 35799454 35799454 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 26 174 0 ENST00000216122.4:c.342G>A p.Arg114= p.R114= ENST00000216122 NM_006739.3 114 cgG/cgA 0 -MCM5 UCSF GRCh37 22 35812631 35812631 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 26 191 0 ENST00000216122.4:c.1414G>A p.Ala472Thr p.A472T ENST00000216122 NM_006739.3 472 Gct/Act 0 -MCM9 UCSF GRCh37 6 119147334 119147334 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 225 39 322 0 ENST00000316316.6:c.1937G>A p.Ser646Asn p.S646N ENST00000316316 NM_017696.2 646 aGt/aAt 0 -MCOLN1 UCSF GRCh37 19 7591692 7591692 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 35 107 0 ENST00000264079.6:c.451C>T p.Arg151Cys p.R151C ENST00000264079 NM_020533.2 151 Cgt/Tgt 0 -MCTP2 UCSF GRCh37 15 94841544 94841544 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 14 117 0 ENST00000357742.4:c.50G>A p.Arg17Lys p.R17K ENST00000357742 NM_018349.3 17 aGg/aAg 0 -MDGA1 UCSF GRCh37 6 37617999 37617999 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 17 85 0 ENST00000434837.3:c.1495C>T p.Leu499= p.L499= ENST00000434837 NM_153487.3 499 Ctg/Ttg 0 -ME3 UCSF GRCh37 11 86158185 86158185 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 18 155 0 ENST00000393324.3:c.1302G>A p.Glu434= p.E434= ENST00000393324 NM_001014811.1 434 gaG/gaA 0 -MECP2 UCSF GRCh37 X 153297923 153297923 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 9 78 0 ENST00000303391.6:c.112G>A p.Glu38Lys p.E38K ENST00000303391 NM_004992.3 38 Gag/Aag 0 -MECR UCSF GRCh37 1 29542612 29542612 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 5 39 0 ENST00000263702.6:c.311G>A p.Gly104Glu p.G104E ENST00000263702 104 gGa/gAa 0 -MED1 UCSF GRCh37 17 37564974 37564974 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 48 363 0 ENST00000300651.6:c.3500C>T p.Ser1167Phe p.S1167F ENST00000300651 NM_004774.3 1167 tCt/tTt 0 -MED13L UCSF GRCh37 12 116450687 116450687 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 18 174 0 ENST00000281928.3:c.1195C>T p.Pro399Ser p.P399S ENST00000281928 NM_015335.4 399 Cca/Tca 0 -MED26 UCSF GRCh37 19 16687952 16687952 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 323 41 255 0 ENST00000263390.3:c.689C>T p.Thr230Ile p.T230I ENST00000263390 NM_004831.3 230 aCc/aTc 0 -MED27 UCSF GRCh37 9 134738489 134738489 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 10 80 0 ENST00000292035.5:c.762G>A p.Gln254= p.Q254= ENST00000292035 NM_004269.3 254 caG/caA 0 -MEF2B UCSF GRCh37 19 19257685 19257685 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 12 97 0 ENST00000162023.5:c.542-1G>A p.X181_splice ENST00000162023 0 -MEGF8 UCSF GRCh37 19 42858034 42858034 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 164 25 243 0 ENST00000251268.6:c.3869G>A p.Gly1290Asp p.G1290D ENST00000251268 1290 gGc/gAc 0 -MEGF8 UCSF GRCh37 19 42863080 42863080 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 6 19 0 ENST00000251268.6:c.5317G>A p.Glu1773Lys p.E1773K ENST00000251268 1773 Gag/Aag 0 -MEGF8 UCSF GRCh37 19 42848871 42848871 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 22 184 0 ENST00000251268.6:c.1983G>A p.Trp661Ter p.W661* ENST00000251268 661 tgG/tgA 0 -MEI1 UCSF GRCh37 22 42144223 42144223 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 8 74 0 ENST00000401548.3:c.1792+1G>A p.X598_splice ENST00000401548 NM_152513.3 0 -MEIS3 UCSF GRCh37 19 47920520 47920520 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 5 21 0 ENST00000558555.1:c.100C>T p.Pro34Ser p.P34S ENST00000558555 34 Ccc/Tcc 0 -MEOX1 UCSF GRCh37 17 41720962 41720962 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 15 85 0 ENST00000318579.4:c.536C>T p.Thr179Ile p.T179I ENST00000318579 NM_001040002.1 179 aCc/aTc 0 -MET UCSF GRCh37 7 116339509 116339509 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 319 108 417 0 ENST00000397752.3:c.371C>T p.Thr124Ile p.T124I ENST00000397752 NM_000245.2 124 aCc/aTc 0 -METRN UCSF GRCh37 16 765688 765688 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 8 22 0 ENST00000568223.2:c.209G>A p.Gly70Asp p.G70D ENST00000568223 NM_024042.2 70 gGc/gAc 0 -MFSD10 UCSF GRCh37 4 2934423 2934423 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 17 109 0 ENST00000329687.4:c.435C>T p.Ala145= p.A145= ENST00000329687 NM_001120.4 145 gcC/gcT 0 -MFSD11 UCSF GRCh37 17 74735066 74735066 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 42 282 0 ENST00000336509.4:c.143G>A p.Gly48Glu p.G48E ENST00000336509 NM_001242533.1 48 gGa/gAa 0 -MGA UCSF GRCh37 15 42054537 42054537 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 18 131 0 ENST00000219905.7:c.7721C>T p.Ser2574Phe p.S2574F ENST00000219905 NM_001164273.1 2574 tCc/tTc 0 -MGAM UCSF GRCh37 7 141724908 141724908 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 19 188 0 ENST00000549489.2:c.941G>A p.Gly314Glu p.G314E ENST00000549489 NM_004668.2 314 gGa/gAa 0 -MIB1 UCSF GRCh37 18 19395702 19395702 + synonymous_variant Silent SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 59 221 0 ENST00000261537.6:c.1605T>C p.His535= p.H535= ENST00000261537 NM_020774.3 535 caT/caC 0 -MICAL2 UCSF GRCh37 11 12183794 12183794 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 37 283 0 ENST00000256194.4:c.92C>T p.Ala31Val p.A31V ENST00000256194 NM_014632.2 31 gCc/gTc 0 -MICAL3 UCSF GRCh37 22 18301123 18301123 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 6 29 0 ENST00000441493.2:c.4304C>T p.Ser1435Phe p.S1435F ENST00000441493 NM_015241.2 1435 tCc/tTc 0 -MICALCL UCSF GRCh37 11 12315524 12315524 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 100 16 168 0 ENST00000256186.2:c.546C>T p.Val182= p.V182= ENST00000256186 NM_032867.2 182 gtC/gtT 0 -MICB UCSF GRCh37 6 31466001 31466001 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 10 110 0 ENST00000252229.6:c.31G>A p.Ala11Thr p.A11T ENST00000252229 NM_005931.3 11 Gcc/Acc 0 -MLL3 UCSF GRCh37 7 151880171 151880171 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 25 183 0 ENST00000262189.6:c.5153G>A p.Arg1718Lys p.R1718K ENST00000262189 NM_170606.2 1718 aGg/aAg 0 -MLL3 UCSF GRCh37 7 152012300 152012300 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 16 153 0 ENST00000262189.6:c.513G>A p.Lys171= p.K171= ENST00000262189 NM_170606.2 171 aaG/aaA 0 -MLL4 UCSF GRCh37 19 36221339 36221339 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 366 231 676 1 ENST00000420124.1:c.5173C>T p.Pro1725Ser p.P1725S ENST00000420124 1725 Ccc/Tcc 0 -MLL4 UCSF GRCh37 19 36223240 36223240 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 289 56 433 0 ENST00000420124.1:c.5790C>T p.Ser1930= p.S1930= ENST00000420124 1930 tcC/tcT 0 -MLL5 UCSF GRCh37 7 104745961 104745961 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 330 66 456 0 ENST00000257745.4:c.2272C>T p.Leu758= p.L758= ENST00000257745 NM_018682.3 758 Cta/Tta 0 -MMEL1 UCSF GRCh37 1 2540829 2540829 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 6 56 0 ENST00000378412.3:c.484C>T p.Arg162Trp p.R162W ENST00000378412 162 Cgg/Tgg 0 -MMP1 UCSF GRCh37 11 102666337 102666337 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 8 56 0 ENST00000315274.6:c.627G>A p.Glu209= p.E209= ENST00000315274 NM_002421.3 209 gaG/gaA 0 -MMP13 UCSF GRCh37 11 102819875 102819875 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 14 136 0 ENST00000260302.3:c.930C>T p.Arg310= p.R310= ENST00000260302 NM_002427.3 310 cgC/cgT 0 -MMP15 UCSF GRCh37 16 58075765 58075765 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 7 90 0 ENST00000219271.3:c.1155C>T p.Phe385= p.F385= ENST00000219271 NM_002428.2 385 ttC/ttT 0 -MMP3 UCSF GRCh37 11 102712885 102712885 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 9 66 0 ENST00000299855.5:c.625G>A p.Gly209Arg p.G209R ENST00000299855 NM_002422.3 209 Ggg/Agg 0 -MN1 UCSF GRCh37 22 28193613 28193613 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 16 113 0 ENST00000302326.4:c.2919G>A p.Gly973= p.G973= ENST00000302326 NM_002430.2 973 ggG/ggA 0 -MOB3B UCSF GRCh37 9 27359113 27359113 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 25 255 0 ENST00000262244.5:c.540C>T p.Ala180= p.A180= ENST00000262244 NM_024761.4 180 gcC/gcT 0 -MORC1 UCSF GRCh37 3 108829620 108829620 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 5 20 0 ENST00000232603.5:c.130G>A p.Ala44Thr p.A44T ENST00000232603 NM_014429.3 44 Gct/Act 0 -MPHOSPH9 UCSF GRCh37 12 123651312 123651312 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 17 102 0 ENST00000606320.1:c.2481C>T p.Ser827= p.S827= ENST00000606320 NM_022782.3 827 agC/agT 0 -MPL UCSF GRCh37 1 43817944 43817944 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 18 159 0 ENST00000372470.3:c.1623G>A p.Gln541= p.Q541= ENST00000372470 NM_005373.2 541 caG/caA 0 -MPO UCSF GRCh37 17 56357791 56357791 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 6 63 0 ENST00000225275.3:c.184G>A p.Val62Met p.V62M ENST00000225275 NM_000250.1 62 Gtg/Atg 0 -MPZL3 UCSF GRCh37 11 118104212 118104212 + missense_variant Missense_Mutation SNP C C T snp132_rs116163888 P24_Rec2 Untested WXS Illumina HiSeq 175 30 237 0 ENST00000278949.4:c.644G>A p.Cys215Tyr p.C215Y ENST00000278949 215 tGt/tAt 0 -MRGPRF UCSF GRCh37 11 68773465 68773465 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 14 146 0 ENST00000309099.6:c.313G>A p.Gly105Arg p.G105R ENST00000309099 NM_145015.4 105 Ggg/Agg 0 -MRPL2 UCSF GRCh37 6 43024112 43024112 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 28 224 0 ENST00000388752.3:c.337C>T p.Arg113Trp p.R113W ENST00000388752 NM_015950.3 113 Cgg/Tgg 0 -MRPS18B UCSF GRCh37 6 30587281 30587281 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 235 31 317 0 ENST00000259873.4:c.90G>A p.Gln30= p.Q30= ENST00000259873 NM_014046.3 30 caG/caA 0 -MRPS35 UCSF GRCh37 12 27863847 27863847 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 21 198 0 ENST00000081029.3:c.71C>T p.Thr24Ile p.T24I ENST00000081029 NM_021821.3 24 aCt/aTt 0 -MRPS5 UCSF GRCh37 2 95770404 95770404 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 228 33 340 0 ENST00000272418.2:c.744G>A p.Gly248= p.G248= ENST00000272418 NM_031902.3 248 ggG/ggA 0 -MS4A15 UCSF GRCh37 11 60531267 60531267 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 231 157 483 0 ENST00000405633.3:c.61G>A p.Gly21Ser p.G21S ENST00000405633 NM_001098835.1 21 Ggc/Agc 0 -MS4A6E UCSF GRCh37 11 60105330 60105330 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0042 P24_Rec2 Untested WXS Illumina HiSeq 85 42 193 0 ENST00000300182.4:c.264C>T p.Asp88= p.D88= ENST00000300182 NM_139249.2 88 gaC/gaT 0 -MSH4 UCSF GRCh37 1 76269570 76269570 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 21 218 0 ENST00000263187.3:c.399G>A p.Lys133= p.K133= ENST00000263187 NM_002440.3 133 aaG/aaA 0 -MSH5 UCSF GRCh37 6 31710893 31710893 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 3 23 0 ENST00000375750.3:c.361G>A p.Glu121Lys p.E121K ENST00000375750 NM_172165.3 121 Gag/Aag 0 -MSH6 UCSF GRCh37 2 48026834 48026834 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 154 95 325 0 ENST00000234420.5:c.1712G>A p.Gly571Asp p.G571D ENST00000234420 NM_000179.2 571 gGt/gAt 0 -MSH6 UCSF GRCh37 2 48032083 48032083 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 103 61 192 0 ENST00000234420.5:c.3473G>A p.Cys1158Tyr p.C1158Y ENST00000234420 NM_000179.2 1158 tGt/tAt 0 -MSLN UCSF GRCh37 16 817429 817429 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 4 35 0 ENST00000382862.3:c.1579G>A p.Asp527Asn p.D527N ENST00000382862 NM_013404.4 527 Gac/Aac 0 -MSLN UCSF GRCh37 16 812704 812704 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 29 217 0 ENST00000382862.3:c.24C>T p.Pro8= p.P8= ENST00000382862 NM_013404.4 8 ccC/ccT 0 -MTERFD3 UCSF GRCh37 12 107372461 107372461 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 123 16 169 0 ENST00000240050.4:c.32C>T p.Ser11Phe p.S11F ENST00000240050 NM_001033050.2 11 tCc/tTc 0 -MTFMT UCSF GRCh37 15 65298465 65298465 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 160 22 238 0 ENST00000220058.4:c.878G>A p.Ser293Asn p.S293N ENST00000220058 NM_139242.3 293 aGt/aAt 0 -MTHFD2 UCSF GRCh37 2 74438910 74438910 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 8 46 0 ENST00000394053.2:c.806C>T p.Ala269Val p.A269V ENST00000394053 NM_006636.3 269 gCa/gTa 0 -MTMR3 UCSF GRCh37 22 30403157 30403157 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 8 31 0 ENST00000401950.2:c.726G>A p.Trp242Ter p.W242* ENST00000401950 NM_021090.3 242 tgG/tgA 0 -MTNR1B UCSF GRCh37 11 92714758 92714758 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 237 49 306 1 ENST00000257068.2:c.369C>T p.Ser123= p.S123= ENST00000257068 NM_005959.3 123 agC/agT 0 -MTUS1 UCSF GRCh37 8 17504501 17504501 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 139 269 0 ENST00000262102.6:c.3589G>A p.Ala1197Thr p.A1197T ENST00000262102 NM_001001924.2 1197 Gca/Aca 0 -MUC1 UCSF GRCh37 1 155161911 155161911 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 14 130 0 ENST00000368395.1:c.222G>A p.Gln74= p.Q74= ENST00000368395 NM_001204285.1 74 caG/caA 0 -MUC16 UCSF GRCh37 19 9073741 9073741 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 20 166 0 ENST00000397910.4:c.13705G>A p.Val4569Ile p.V4569I ENST00000397910 NM_024690.2 4569 Gtt/Att 0 -MUC16 UCSF GRCh37 19 9060954 9060954 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 247 29 276 0 ENST00000397910.4:c.26492C>T p.Pro8831Leu p.P8831L ENST00000397910 NM_024690.2 8831 cCt/cTt 0 -MUC2 UCSF GRCh37 11 1090790 1090790 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 11 126 0 ENST00000441003.2:c.3685C>T p.Leu1229Phe p.L1229F ENST00000441003 NM_002457.2 1229 Ctt/Ttt 0 -MUC2 UCSF GRCh37 11 1096427 1096427 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 24 183 0 ENST00000441003.2:c.6452C>T p.Pro2151Leu p.P2151L ENST00000441003 NM_002457.2 2151 cCc/cTc 0 -MUC5B UCSF GRCh37 11 1250966 1250966 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 30 285 0 ENST00000529681.1:c.1149G>A p.Gly383= p.G383= ENST00000529681 NM_002458.2 383 ggG/ggA 0 -MUC6 UCSF GRCh37 11 1030681 1030681 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 12 103 0 ENST00000421673.2:c.784C>T p.Pro262Ser p.P262S ENST00000421673 NM_005961.2 262 Ccc/Tcc 0 -MUM1 UCSF GRCh37 19 1371047 1371047 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 253 32 227 0 ENST00000344663.3:c.1959C>T p.Ile653= p.I653= ENST00000344663 653 atC/atT 0 -MVP UCSF GRCh37 16 29855860 29855860 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 24 196 0 ENST00000357402.5:c.1681C>T p.Leu561Phe p.L561F ENST00000357402 NM_017458.3 561 Ctc/Ttc 0 -MXRA8 UCSF GRCh37 1 1290246 1290246 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 16 142 0 ENST00000309212.6:c.765C>T p.Phe255= p.F255= ENST00000309212 NM_032348.2 255 ttC/ttT 0 -MYADM UCSF GRCh37 19 54377419 54377419 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 171 31 267 0 ENST00000336967.3:c.636C>T p.Ile212= p.I212= ENST00000336967 NM_001020820.1 212 atC/atT 0 -MYCL1 UCSF GRCh37 1 40363471 40363471 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 28 214 0 ENST00000372816.2:c.668G>A p.Cys223Tyr p.C223Y ENST00000372816 223 tGc/tAc 0 -MYH1 UCSF GRCh37 17 10411982 10411982 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 10 5 24 0 ENST00000226207.5:c.1595G>A p.Gly532Asp p.G532D ENST00000226207 NM_005963.3 532 gGc/gAc 0 -MYH1 UCSF GRCh37 17 10415188 10415188 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 11 26 0 ENST00000226207.5:c.1384G>A p.Val462Ile p.V462I ENST00000226207 NM_005963.3 462 Gtc/Atc 0 -MYH10 UCSF GRCh37 17 8473102 8473102 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 10 114 0 ENST00000269243.4:c.662C>T p.Ala221Val p.A221V ENST00000269243 NM_005964.3 221 gCa/gTa 0 -MYH11 UCSF GRCh37 16 15818827 15818827 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 18 170 0 ENST00000300036.5:c.3881G>A p.Gly1294Glu p.G1294E ENST00000300036 NM_002474.2 1294 gGg/gAg 0 -MYH2 UCSF GRCh37 17 10440993 10440993 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 49 0 ENST00000245503.5:c.1576C>T p.Leu526Phe p.L526F ENST00000245503 NM_017534.5 526 Ctc/Ttc 0 -MYH9 UCSF GRCh37 22 36702043 36702043 + missense_variant Missense_Mutation SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 13 116 0 ENST00000216181.5:c.2092C>A p.Leu698Ile p.L698I ENST00000216181 NM_002473.4 698 Ctc/Atc 0 -MYLK UCSF GRCh37 3 123452730 123452730 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 175 24 208 0 ENST00000360304.3:c.1113G>A p.Arg371= p.R371= ENST00000360304 NM_053025.3 371 agG/agA 0 -MYO15A UCSF GRCh37 17 18055258 18055258 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 76 213 1 ENST00000205890.5:c.7886G>A p.Gly2629Asp p.G2629D ENST00000205890 NM_016239.3 2629 gGc/gAc 0 -MYO18A UCSF GRCh37 17 27424829 27424829 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 220 41 300 1 ENST00000527372.1:c.4079G>A p.Gly1360Glu p.G1360E ENST00000527372 NM_078471.3 1360 gGg/gAg 0 -MYO18A UCSF GRCh37 17 27448665 27448665 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 10 49 0 ENST00000527372.1:c.1271C>T p.Thr424Ile p.T424I ENST00000527372 NM_078471.3 424 aCc/aTc 0 -MYO5A UCSF GRCh37 15 52708393 52708393 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 11 94 0 ENST00000399231.3:c.561C>T p.Ala187= p.A187= ENST00000399231 NM_000259.3 187 gcC/gcT 0 -MYO5B UCSF GRCh37 18 47431193 47431193 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 12 120 0 ENST00000285039.7:c.2420C>T p.Ala807Val p.A807V ENST00000285039 NM_001080467.2 807 gCt/gTt 0 -MYO7A UCSF GRCh37 11 76895733 76895733 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 19 142 0 ENST00000409709.3:c.3476G>A p.Gly1159Asp p.G1159D ENST00000409709 NM_000260.3 1159 gGc/gAc 0 -MYO7B UCSF GRCh37 2 128383042 128383042 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 18 190 0 ENST00000409816.2:c.4069C>T p.Pro1357Ser p.P1357S ENST00000409816 1357 Ccc/Tcc 0 -MYO7B UCSF GRCh37 2 128387376 128387376 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 10 59 0 ENST00000409816.2:c.4703T>C p.Val1568Ala p.V1568A ENST00000409816 1568 gTc/gCc 0 -MYO7B UCSF GRCh37 2 128339968 128339968 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 13 122 0 ENST00000409816.2:c.1290G>A p.Arg430= p.R430= ENST00000409816 430 cgG/cgA 0 -MYO9A UCSF GRCh37 15 72190181 72190181 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 198 35 287 0 ENST00000356056.5:c.4663G>A p.Glu1555Lys p.E1555K ENST00000356056 NM_006901.3 1555 Gag/Aag 0 -MYO9A UCSF GRCh37 15 72196314 72196314 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 9 132 0 ENST00000356056.5:c.2833G>A p.Val945Ile p.V945I ENST00000356056 NM_006901.3 945 Gtt/Att 0 -MYOM1 UCSF GRCh37 18 3215166 3215166 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 14 84 0 ENST00000356443.4:c.56A>G p.Asn19Ser p.N19S ENST00000356443 NM_019856.1 19 aAc/aGc 0 -MYOT UCSF GRCh37 5 137206617 137206617 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 378 59 588 0 ENST00000239926.4:c.277C>T p.Pro93Ser p.P93S ENST00000239926 NM_006790.2 93 Cca/Tca 0 -MYOZ2 UCSF GRCh37 4 120072107 120072107 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 17 198 0 ENST00000307128.5:c.157C>T p.Arg53Cys p.R53C ENST00000307128 NM_016599.4 53 Cgt/Tgt 0 -NAB1 UCSF GRCh37 2 191551996 191551996 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 53 340 0 ENST00000337386.5:c.1328G>A p.Gly443Glu p.G443E ENST00000337386 NM_005966.3 443 gGg/gAg 0 -NACAD UCSF GRCh37 7 45124928 45124928 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 12 55 0 ENST00000490531.2:c.851G>A p.Ser284Asn p.S284N ENST00000490531 NM_001146334.1 284 aGc/aAc 0 -NAGPA UCSF GRCh37 16 5081863 5081863 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 27 183 0 ENST00000312251.3:c.565C>T p.Leu189= p.L189= ENST00000312251 NM_016256.3 189 Ctg/Ttg 0 -NALCN UCSF GRCh37 13 101753175 101753175 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 10 67 0 ENST00000251127.6:c.3122G>A p.Gly1041Glu p.G1041E ENST00000251127 NM_052867.2 1041 gGa/gAa 0 -NASP UCSF GRCh37 1 46073227 46073227 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 4 25 0 ENST00000350030.3:c.644G>A p.Gly215Glu p.G215E ENST00000350030 NM_002482.3 215 gGa/gAa 0 -NAT10 UCSF GRCh37 11 34129869 34129869 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 31 136 0 ENST00000257829.3:c.97G>A p.Gly33Arg p.G33R ENST00000257829 NM_024662.2 33 Gga/Aga 0 -NAV1 UCSF GRCh37 1 201750262 201750262 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 13 151 0 ENST00000367296.4:c.1488G>A p.Gly496= p.G496= ENST00000367296 NM_020443.4 496 ggG/ggA 0 -NAV2 UCSF GRCh37 11 20044667 20044667 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 6 35 0 ENST00000396087.3:c.2838-12838G>A *946* ENST00000396087 NM_001244963.1 0 -NAV3 UCSF GRCh37 12 78400710 78400710 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 10 137 0 ENST00000397909.2:c.1392G>A p.Gln464= p.Q464= ENST00000397909 NM_001024383.1 464 caG/caA 0 -NBEA UCSF GRCh37 13 35751142 35751142 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 17 209 0 ENST00000400445.3:c.4564G>A p.Glu1522Lys p.E1522K ENST00000400445 NM_015678.4 1522 Gaa/Aaa 0 -NCAPG2 UCSF GRCh37 7 158454921 158454921 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0014,snp132_rs61746693 P24_Rec2 Untested WXS Illumina HiSeq 145 17 151 0 ENST00000356309.3:c.1954G>A p.Ala652Thr p.A652T ENST00000356309 NM_017760.5 652 Gcc/Acc 0 -NCKAP1L UCSF GRCh37 12 54920453 54920453 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 58 184 0 ENST00000293373.6:c.2298C>T p.Ile766= p.I766= ENST00000293373 NM_005337.4 766 atC/atT 0 -NCKAP5 UCSF GRCh37 2 133542583 133542583 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 427 66 634 0 ENST00000409261.1:c.1801C>T p.Pro601Ser p.P601S ENST00000409261 NM_207363.2 601 Cct/Tct 0 -NCL UCSF GRCh37 2 232326445 232326445 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 370 51 544 0 ENST00000322723.4:c.419C>T p.Ala140Val p.A140V ENST00000322723 NM_005381.2 140 gCc/gTc 0 -NCL UCSF GRCh37 2 232319968 232319968 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 384 64 581 1 ENST00000322723.4:c.2067C>T p.Gly689= p.G689= ENST00000322723 NM_005381.2 689 ggC/ggT 0 -NCOA6 UCSF GRCh37 20 33328235 33328235 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 20 154 0 ENST00000359003.2:c.5825C>T p.Ser1942Phe p.S1942F ENST00000359003 NM_014071.3 1942 tCt/tTt 0 -NCOR2 UCSF GRCh37 12 124821445 124821445 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 10 64 0 ENST00000405201.1:c.5969C>T p.Thr1990Ile p.T1990I ENST00000405201 1990 aCc/aTc 0 -NDUFA7 UCSF GRCh37 19 8386193 8386193 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 8 41 0 ENST00000301457.2:c.50G>A p.Gly17Glu p.G17E ENST00000301457 NM_005001.3 17 gGg/gAg 0 -NEDD4L UCSF GRCh37 18 56033398 56033398 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 136 19 177 0 ENST00000400345.3:c.2001G>A p.Trp667Ter p.W667* ENST00000400345 NM_001144967.2 667 tgG/tgA 0 -NEDD9 UCSF GRCh37 6 11213641 11213641 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 32 212 0 ENST00000379446.5:c.332C>T p.Ser111Phe p.S111F ENST00000379446 NM_001271033.1 111 tCc/tTc 0 -NEK5 UCSF GRCh37 13 52701586 52701586 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 28 306 0 ENST00000355568.4:c.33G>A p.Gly11= p.G11= ENST00000355568 NM_199289.1 11 ggG/ggA 0 -NELF UCSF GRCh37 9 140347022 140347022 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 12 115 0 ENST00000371475.3:c.1148C>T p.Thr383Ile p.T383I ENST00000371475 NM_001130969.1 383 aCc/aTc 0 -NES UCSF GRCh37 1 156639827 156639827 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 322 174 541 1 ENST00000368223.3:c.4153G>A p.Glu1385Lys p.E1385K ENST00000368223 NM_006617.1 1385 Gag/Aag 0 -NES UCSF GRCh37 1 156646436 156646436 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 15 114 0 ENST00000368223.3:c.621C>T p.Ala207= p.A207= ENST00000368223 NM_006617.1 207 gcC/gcT 0 -NEURL4 UCSF GRCh37 17 7229659 7229659 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 19 141 0 ENST00000399464.2:c.1208C>T p.Thr403Ile p.T403I ENST00000399464 NM_032442.2 403 aCc/aTc 0 -NEUROG2 UCSF GRCh37 4 113436633 113436633 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 13 113 0 ENST00000313341.3:c.-1-1G>A p.X1_splice ENST00000313341 NM_024019.3 0 -NF1 UCSF GRCh37 17 29559818 29559818 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 88 71 162 0 ENST00000358273.4:c.3415G>A p.Ala1139Thr p.A1139T ENST00000358273 NM_001042492.2 1139 Gca/Aca 0 -NF1 UCSF GRCh37 17 29654615 29654620 + inframe_deletion In_Frame_Del DEL AGAAAT AGAAAT - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 0 ENST00000358273.4:c.5367_5372del p.Glu1789_Ile1791delinsAsp p.E1789_I1791delinsD ENST00000358273 NM_001042492.2 1789 gaAGAAATc/gac 0 -NF2 UCSF GRCh37 22 30077550 30077550 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 37 141 0 ENST00000338641.4:c.1697C>T p.Ser566Phe p.S566F ENST00000338641 NM_000268.3 566 tCc/tTc 0 -NFASC UCSF GRCh37 1 204943842 204943842 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 7 85 0 ENST00000339876.6:c.1449C>T p.Asn483= p.N483= ENST00000339876 NM_001005388.2 483 aaC/aaT 0 -NFIL3 UCSF GRCh37 9 94172319 94172319 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 418 70 588 0 ENST00000297689.3:c.698G>A p.Arg233Lys p.R233K ENST00000297689 NM_005384.2 233 aGa/aAa 0 -NFKBIA UCSF GRCh37 14 35871683 35871683 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 18 174 0 ENST00000216797.5:c.823G>A p.Glu275Lys p.E275K ENST00000216797 NM_020529.2 275 Gaa/Aaa 0 -NFYA UCSF GRCh37 6 41051812 41051812 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 9 54 0 ENST00000341376.6:c.190G>A p.Val64Ile p.V64I ENST00000341376 NM_002505.4 64 Gtc/Atc 0 -NGDN UCSF GRCh37 14 23946745 23946745 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 23 131 0 ENST00000408901.3:c.904C>T p.Pro302Ser p.P302S ENST00000408901 NM_015514.1 302 Cct/Tct 0 -NHEJ1 UCSF GRCh37 2 220012486 220012486 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 22 86 0 ENST00000356853.5:c.422G>A p.Gly141Asp p.G141D ENST00000356853 NM_024782.2 141 gGc/gAc 0 -NID2 UCSF GRCh37 14 52477742 52477742 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 16 184 1 ENST00000216286.5:c.3574G>A p.Ala1192Thr p.A1192T ENST00000216286 NM_007361.3 1192 Gcc/Acc 0 -NIF3L1 UCSF GRCh37 2 201759992 201759992 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 164 23 273 0 ENST00000409020.1:c.605G>A p.Gly202Asp p.G202D ENST00000409020 202 gGt/gAt 0 -NIF3L1 UCSF GRCh37 2 201760089 201760089 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 21 210 0 ENST00000409020.1:c.702G>A p.Lys234= p.K234= ENST00000409020 234 aaG/aaA 0 -NIPBL UCSF GRCh37 5 37017264 37017264 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 21 163 0 ENST00000282516.8:c.4920G>A p.Gln1640= p.Q1640= ENST00000282516 NM_133433.3 1640 caG/caA 0 -NKD2 UCSF GRCh37 5 1034924 1034924 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 8 81 0 ENST00000296849.5:c.480C>T p.Asn160= p.N160= ENST00000296849 NM_033120.3 160 aaC/aaT 0 -NKIRAS1 UCSF GRCh37 3 23934754 23934754 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 379 54 523 0 ENST00000388759.3:c.411G>A p.Gln137= p.Q137= ENST00000388759 137 caG/caA 0 -NKPD1 UCSF GRCh37 19 45656002 45656002 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 134 35 160 0 ENST00000438936.2:c.1027G>A p.Asp343Asn p.D343N ENST00000438936 343 Gac/Aac 0 -NLRC4 UCSF GRCh37 2 32476057 32476057 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 41 375 0 ENST00000360906.5:c.876C>T p.Ala292= p.A292= ENST00000360906 NM_001199139.1 292 gcC/gcT 0 -NLRP5 UCSF GRCh37 19 56561867 56561867 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 16 189 0 ENST00000390649.3:c.3041G>A p.Ser1014Asn p.S1014N ENST00000390649 NM_153447.4 1014 aGc/aAc 0 -NLRP8 UCSF GRCh37 19 56466187 56466187 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 14 90 0 ENST00000291971.3:c.763A>G p.Ser255Gly p.S255G ENST00000291971 NM_176811.2 255 Agc/Ggc 0 -NLRP9 UCSF GRCh37 19 56249712 56249712 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 16 189 0 ENST00000332836.2:c.29G>A p.Gly10Asp p.G10D ENST00000332836 NM_176820.2 10 gGc/gAc 0 -NMB UCSF GRCh37 15 85201240 85201240 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 15 162 0 ENST00000360476.3:c.144C>T p.Asn48= p.N48= ENST00000360476 48 aaC/aaT 0 -NMT1 UCSF GRCh37 17 43138709 43138709 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 8 72 0 ENST00000258960.2:c.12G>A p.Glu4= p.E4= ENST00000258960 NM_021079.3 4 gaG/gaA 0 -NNMT UCSF GRCh37 11 114182874 114182874 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 10 106 0 ENST00000299964.3:c.470C>T p.Ala157Val p.A157V ENST00000299964 NM_006169.2 157 gCt/gTt 0 -NOB1 UCSF GRCh37 16 69776273 69776273 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 5 52 0 ENST00000268802.5:c.1201C>T p.Pro401Ser p.P401S ENST00000268802 NM_014062.2 401 Ccc/Tcc 0 -NOC4L UCSF GRCh37 12 132635830 132635830 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 391 57 522 0 ENST00000330579.1:c.990C>T p.Leu330= p.L330= ENST00000330579 NM_024078.1 330 ctC/ctT 0 -NOD2 UCSF GRCh37 16 50745218 50745218 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 272 50 303 0 ENST00000300589.2:c.1396G>A p.Ala466Thr p.A466T ENST00000300589 NM_022162.1 466 Gcg/Acg 0 -NOL11 UCSF GRCh37 17 65714129 65714129 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0024 P24_Rec2 Untested WXS Illumina HiSeq 65 12 86 0 ENST00000253247.4:c.66C>T p.Leu22= p.L22= ENST00000253247 NM_015462.3 22 ctC/ctT 0 -NOL12 UCSF GRCh37 22 38084991 38084991 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 22 123 0 ENST00000359114.4:c.373C>T p.Pro125Ser p.P125S ENST00000359114 NM_024313.2 125 Cca/Tca 0 -NOL6 UCSF GRCh37 9 33466700 33466700 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 3 37 0 ENST00000297990.4:c.1958G>A p.Ser653Asn p.S653N ENST00000297990 NM_022917.4 653 aGc/aAc 0 -NOTCH2 UCSF GRCh37 1 120510832 120510832 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 7 101 0 ENST00000256646.2:c.1132G>A p.Ala378Thr p.A378T ENST00000256646 NM_024408.3 378 Gca/Aca 0 -NOTCH3 UCSF GRCh37 19 15303236 15303236 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 17 115 0 ENST00000263388.2:c.292G>A p.Val98Met p.V98M ENST00000263388 NM_000435.2 98 Gtg/Atg 0 -NOX4 UCSF GRCh37 11 89073276 89073276 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 3 38 0 ENST00000263317.4:c.1401G>A p.Gln467= p.Q467= ENST00000263317 467 caG/caA 0 -NOXO1 UCSF GRCh37 16 2031163 2031163 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 14 112 0 ENST00000397280.4:c.18C>T p.Tyr6= p.Y6= ENST00000397280 6 taC/taT 0 -NPAS2 UCSF GRCh37 2 101607309 101607309 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 8 82 0 ENST00000335681.5:c.2086G>A p.Val696Ile p.V696I ENST00000335681 NM_002518.3 696 Gtc/Atc 0 -NPEPL1 UCSF GRCh37 20 57268858 57268858 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 36 272 0 ENST00000356091.6:c.216C>T p.Asn72= p.N72= ENST00000356091 NM_024663.3 72 aaC/aaT 0 -NPM1 UCSF GRCh37 5 170832397 170832397 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 3 40 0 ENST00000296930.5:c.761G>A p.Ser254Asn p.S254N ENST00000296930 NM_002520.6 254 aGt/aAt 0 -NPR1 UCSF GRCh37 1 153651984 153651984 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 12 73 0 ENST00000368680.3:c.400G>A p.Val134Ile p.V134I ENST00000368680 NM_000906.3 134 Gtc/Atc 0 -NPR3 UCSF GRCh37 5 32780919 32780919 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 19 144 0 ENST00000265074.8:c.1287G>A p.Gln429= p.Q429= ENST00000265074 NM_001204375.1 429 caG/caA 0 -NR1H2 UCSF GRCh37 19 50883108 50883108 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 39 245 0 ENST00000253727.5:c.999C>T p.Thr333= p.T333= ENST00000253727 NM_007121.5 333 acC/acT 0 -NRAP UCSF GRCh37 10 115364464 115364464 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 26 115 0 ENST00000359988.3:c.4131C>T p.Ser1377= p.S1377= ENST00000359988 NM_001261463.1 1377 agC/agT 0 -NRG1 UCSF GRCh37 8 32620750 32620750 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 176 27 204 0 ENST00000405005.3:c.1269-516C>T *423* ENST00000405005 0 -NRG1 UCSF GRCh37 8 31498022 31498022 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 11 91 0 ENST00000520407.1:c.522C>T p.Gly174= p.G174= ENST00000520407 NM_013962.2 174 ggC/ggT 0 -NRL UCSF GRCh37 14 24550553 24550553 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 8 83 0 ENST00000396997.1:c.606G>A p.Arg202= p.R202= ENST00000396997 202 cgG/cgA 0 -NRL UCSF GRCh37 14 24550568 24550568 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 6 70 0 ENST00000396997.1:c.591G>A p.Gln197= p.Q197= ENST00000396997 197 caG/caA 0 -NRXN1 UCSF GRCh37 2 50573959 50573959 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 10 56 0 ENST00000406316.2:c.3365-109851C>T *1122* ENST00000406316 NM_004801.4 0 -NRXN3 UCSF GRCh37 14 79181181 79181181 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 35 240 0 ENST00000554719.1:c.624C>T p.Tyr208= p.Y208= ENST00000554719 NM_004796.5 208 taC/taT 0 -NSDHL UCSF GRCh37 X 152037444 152037444 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 61 250 0 ENST00000370274.3:c.906C>T p.Tyr302= p.Y302= ENST00000370274 NM_015922.2 302 taC/taT 0 -NT5C2 UCSF GRCh37 10 104865512 104865512 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 18 391 1 ENST00000343289.5:c.340G>A p.Ala114Thr p.A114T ENST00000343289 NM_012229.4 114 Gcc/Acc 0 -NT5M UCSF GRCh37 17 17209926 17209926 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 9 83 0 ENST00000389022.4:c.337G>A p.Glu113Lys p.E113K ENST00000389022 NM_020201.3 113 Gaa/Aaa 0 -NTN4 UCSF GRCh37 12 96131783 96131786 + frameshift_variant Frame_Shift_Del DEL TTCA TTCA - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 7 0 ENST00000343702.4:c.722_725del p.Leu241ProfsTer159 p.L241Pfs*159 ENST00000343702 NM_021229.3 241 cTGAAc/cc 0 -NTN5 UCSF GRCh37 19 49164996 49164996 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 10 84 0 ENST00000270235.4:c.1408G>A p.Glu470Lys p.E470K ENST00000270235 NM_145807.1 470 Gag/Aag 0 -NTRK1 UCSF GRCh37 1 156845411 156845411 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 6 78 0 ENST00000524377.1:c.1454G>A p.Gly485Glu p.G485E ENST00000524377 NM_002529.3 485 gGg/gAg 0 -NTRK3 UCSF GRCh37 15 88678626 88678626 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 11 49 0 ENST00000360948.2:c.910C>T p.Pro304Ser p.P304S ENST00000360948 NM_001012338.2 304 Ccc/Tcc 0 -NTSR2 UCSF GRCh37 2 11802235 11802235 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 18 137 0 ENST00000306928.5:c.756C>T p.Ser252= p.S252= ENST00000306928 NM_012344.3 252 agC/agT 0 -NUDT6 UCSF GRCh37 4 123843525 123843525 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 18 131 0 ENST00000304430.5:c.203G>A p.Arg68His p.R68H ENST00000304430 NM_007083.4 68 cGc/cAc 0 -NUMA1 UCSF GRCh37 11 71725214 71725214 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 249 51 322 0 ENST00000393695.3:c.3335C>T p.Ala1112Val p.A1112V ENST00000393695 NM_006185.2 1112 gCt/gTt 0 -NUMA1 UCSF GRCh37 11 71730027 71730027 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 5 44 0 ENST00000393695.3:c.585-1G>A p.X195_splice ENST00000393695 NM_006185.2 0 -NUP133 UCSF GRCh37 1 229611474 229611474 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 9 150 0 ENST00000261396.3:c.1762C>T p.Pro588Ser p.P588S ENST00000261396 NM_018230.2 588 Cct/Tct 0 -NUP153 UCSF GRCh37 6 17626056 17626056 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 12 99 0 ENST00000262077.2:c.3884C>T p.Thr1295Ile p.T1295I ENST00000262077 NM_001278210.1 1295 aCc/aTc 0 -NUP153 UCSF GRCh37 6 17669248 17669248 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 8 91 0 ENST00000262077.2:c.1026G>A p.Arg342= p.R342= ENST00000262077 NM_001278210.1 342 agG/agA 0 -NUP210 UCSF GRCh37 3 13364863 13364863 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 17 204 0 ENST00000254508.5:c.4714G>A p.Ala1572Thr p.A1572T ENST00000254508 NM_024923.3 1572 Gct/Act 0 -NUP210L UCSF GRCh37 1 153995709 153995709 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 17 106 0 ENST00000368559.3:c.4187C>T p.Thr1396Ile p.T1396I ENST00000368559 NM_207308.2 1396 aCc/aTc 0 -NUP85 UCSF GRCh37 17 73208118 73208118 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 6 82 0 ENST00000245544.4:c.322G>A p.Val108Ile p.V108I ENST00000245544 NM_024844.3 108 Gtc/Atc 0 -NWD1 UCSF GRCh37 19 16870075 16870075 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 176 186 307 0 ENST00000552788.1:c.1809C>T p.Ser603= p.S603= ENST00000552788 603 tcC/tcT 0 -NXPH2 UCSF GRCh37 2 139428815 139428815 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 193 36 257 0 ENST00000272641.3:c.472G>A p.Val158Met p.V158M ENST00000272641 NM_007226.2 158 Gtg/Atg 0 -NXPH2 UCSF GRCh37 2 139429013 139429013 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 344 44 473 0 ENST00000272641.3:c.274G>A p.Glu92Lys p.E92K ENST00000272641 NM_007226.2 92 Gag/Aag 0 -OBSCN UCSF GRCh37 1 228548193 228548193 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 20 89 0 ENST00000422127.1:c.18662-2084C>T *6221* ENST00000422127 NM_001098623.2 0 -OBSCN UCSF GRCh37 1 228476009 228476009 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 19 113 0 ENST00000422127.1:c.10059C>T p.Ala3353= p.A3353= ENST00000422127 NM_001098623.2 3353 gcC/gcT 0 -OBSL1 UCSF GRCh37 2 220435838 220435838 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 38 80 0 ENST00000404537.1:c.117G>A p.Pro39= p.P39= ENST00000404537 NM_015311.2 39 ccG/ccA 0 -OBSL1 UCSF GRCh37 2 220435388 220435388 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 10 113 0 ENST00000404537.1:c.567C>T p.Gly189= p.G189= ENST00000404537 NM_015311.2 189 ggC/ggT 0 -ODZ1 UCSF GRCh37 X 123519840 123519840 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 16 49 0 ENST00000371130.3:c.5742C>T p.Val1914= p.V1914= ENST00000371130 NM_014253.3 1914 gtC/gtT 0 -ODZ4 UCSF GRCh37 11 78399263 78399263 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 27 269 0 ENST00000278550.7:c.5096G>A p.Ser1699Asn p.S1699N ENST00000278550 NM_001098816.2 1699 aGc/aAc 0 -OGFR UCSF GRCh37 20 61444254 61444254 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 7 68 0 ENST00000290291.6:c.1287G>A p.Gln429= p.Q429= ENST00000290291 NM_007346.2 429 caG/caA 0 -OLFML3 UCSF GRCh37 1 114524379 114524379 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.00188 P24_Rec2 Untested WXS Illumina HiSeq 193 34 265 0 ENST00000320334.4:c.1209G>A p.Glu403= p.E403= ENST00000320334 NM_020190.2 403 gaG/gaA 0 -OPA1 UCSF GRCh37 3 193335075 193335075 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 82 390 0 ENST00000392438.3:c.556+1G>A p.X186_splice ENST00000392438 NM_015560.2 0 -OPRD1 UCSF GRCh37 1 29189789 29189789 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 17 135 0 ENST00000234961.2:c.1113C>T p.Ala371= p.A371= ENST00000234961 NM_000911.3 371 gcC/gcT 0 -OR10A6 UCSF GRCh37 11 7950088 7950088 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 32 298 0 ENST00000309838.2:c.122G>A p.Gly41Glu p.G41E ENST00000309838 NM_001004461.1 41 gGa/gAa 0 -OR11L1 UCSF GRCh37 1 248004999 248004999 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 10 79 0 ENST00000355784.2:c.200C>T p.Ser67Phe p.S67F ENST00000355784 NM_001001959.1 67 tCc/tTc 0 -OR12D3 UCSF GRCh37 6 29342990 29342990 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 173 39 282 0 ENST00000396806.3:c.75C>T p.Phe25= p.F25= ENST00000396806 NM_030959.2 25 ttC/ttT 0 -OR13A1 UCSF GRCh37 10 45799010 45799010 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 7 92 0 ENST00000374401.2:c.861G>A p.Gly287= p.G287= ENST00000374401 287 ggG/ggA 0 -OR13C2 UCSF GRCh37 9 107367283 107367283 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 26 259 0 ENST00000542196.1:c.626C>T p.Thr209Ile p.T209I ENST00000542196 NM_001004481.1 209 aCa/aTa 0 -OR1N2 UCSF GRCh37 9 125316357 125316357 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 18 242 0 ENST00000373688.2:c.909C>T p.Asn303= p.N303= ENST00000373688 NM_001004457.1 303 aaC/aaT 0 -OR2C1 UCSF GRCh37 16 3406282 3406282 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 239 33 359 0 ENST00000304936.2:c.342G>A p.Leu114= p.L114= ENST00000304936 NM_012368.2 114 ctG/ctA 0 -OR2L13 UCSF GRCh37 1 248262866 248262866 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 447 63 721 0 ENST00000358120.2:c.189C>T p.Ser63= p.S63= ENST00000358120 63 agC/agT 0 -OR2T1 UCSF GRCh37 1 248570216 248570216 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 22 158 0 ENST00000366474.1:c.921C>T p.Tyr307= p.Y307= ENST00000366474 NM_030904.1 307 taC/taT 0 -OR4D2 UCSF GRCh37 17 56247215 56247215 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 383 62 617 0 ENST00000545221.1:c.199G>A p.Ala67Thr p.A67T ENST00000545221 NM_001004707.3 67 Gct/Act 0 -OR4L1 UCSF GRCh37 14 20528749 20528749 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 286 35 432 0 ENST00000315683.1:c.546C>T p.Pro182= p.P182= ENST00000315683 NM_001004717.1 182 ccC/ccT 0 -OR4N5 UCSF GRCh37 14 20612588 20612588 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 238 42 437 0 ENST00000333629.1:c.694G>A p.Gly232Arg p.G232R ENST00000333629 NM_001004724.1 232 Gga/Aga 0 -OR5C1 UCSF GRCh37 9 125551690 125551690 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 27 241 0 ENST00000373680.2:c.479C>T p.Ala160Val p.A160V ENST00000373680 NM_001001923.1 160 gCc/gTc 0 -OR5M3 UCSF GRCh37 11 56237418 56237418 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 5 33 0 ENST00000312240.2:c.556G>A p.Ala186Thr p.A186T ENST00000312240 NM_001004742.2 186 Gcc/Acc 0 -OR6B3 UCSF GRCh37 2 240984737 240984737 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 10 112 0 ENST00000319423.4:c.753C>T p.Phe251= p.F251= ENST00000319423 NM_173351.1 251 ttC/ttT 0 -OR6C2 UCSF GRCh37 12 55846226 55846226 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 316 40 497 0 ENST00000322678.1:c.229C>T p.Pro77Ser p.P77S ENST00000322678 NM_054105.1 77 Ccc/Tcc 0 -OR6Q1 UCSF GRCh37 11 57799189 57799189 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 278 40 422 0 ENST00000302622.3:c.765C>T p.Phe255= p.F255= ENST00000302622 NM_001005186.2 255 ttC/ttT 0 -OR7E24 UCSF GRCh37 19 9361896 9361896 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 9 77 0 ENST00000456448.1:c.177G>A p.Gly59= p.G59= ENST00000456448 NM_001079935.1 59 ggG/ggA 0 -OR8S1 UCSF GRCh37 12 48920197 48920197 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 299 53 433 0 ENST00000310194.1:c.783G>A p.Met261Ile p.M261I ENST00000310194 NM_001005203.2 261 atG/atA 0 -OR9Q2 UCSF GRCh37 11 57958336 57958336 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 359 64 496 0 ENST00000311591.3:c.374C>T p.Ala125Val p.A125V ENST00000311591 NM_001005283.2 125 gCc/gTc 0 -ORAI1 UCSF GRCh37 12 122079075 122079075 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 21 159 0 ENST00000330079.7:c.438C>T p.Ile146= p.I146= ENST00000330079 NM_032790.3 146 atC/atT 0 -ORMDL2 UCSF GRCh37 12 56212844 56212844 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 486 84 676 0 ENST00000243045.5:c.61G>A p.Gly21Ser p.G21S ENST00000243045 NM_014182.4 21 Ggc/Agc 0 -OSBPL2 UCSF GRCh37 20 60861698 60861698 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 123 20 137 0 ENST00000313733.3:c.1056G>A p.Glu352= p.E352= ENST00000313733 NM_144498.2 352 gaG/gaA 0 -OSMR UCSF GRCh37 5 38919054 38919054 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 507 210 847 0 ENST00000274276.3:c.1475G>A p.Ser492Asn p.S492N ENST00000274276 NM_003999.2 492 aGc/aAc 0 -OSMR UCSF GRCh37 5 38876472 38876472 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 26 279 0 ENST00000274276.3:c.243G>A p.Trp81Ter p.W81* ENST00000274276 NM_003999.2 81 tgG/tgA 0 -OTOF UCSF GRCh37 2 26699183 26699183 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 17 111 0 ENST00000272371.2:c.2679G>A p.Leu893= p.L893= ENST00000272371 NM_194248.2 893 ctG/ctA 0 -OTOP1 UCSF GRCh37 4 4199408 4199408 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 11 116 0 ENST00000296358.4:c.1153C>T p.Pro385Ser p.P385S ENST00000296358 NM_177998.1 385 Ccg/Tcg 0 -OTOR UCSF GRCh37 20 16729077 16729077 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 226 32 323 0 ENST00000246081.2:c.31G>A p.Gly11Ser p.G11S ENST00000246081 NM_020157.3 11 Ggt/Agt 0 -OTP UCSF GRCh37 5 76926188 76926188 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 8 51 0 ENST00000306422.3:c.879C>T p.Leu293= p.L293= ENST00000306422 NM_032109.2 293 ctC/ctT 0 -OTUD7A UCSF GRCh37 15 31851175 31851175 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 177 62 433 0 ENST00000307050.4:c.547G>A p.Ala183Thr p.A183T ENST00000307050 NM_130901.1 183 Gca/Aca 0 -OXER1 UCSF GRCh37 2 42990903 42990903 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 9 76 0 ENST00000378661.2:c.417C>T p.Phe139= p.F139= ENST00000378661 NM_148962.4 139 ttC/ttT 0 -OXNAD1 UCSF GRCh37 3 16343261 16343261 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 10 89 0 ENST00000285083.5:c.561C>T p.Ile187= p.I187= ENST00000285083 NM_138381.3 187 atC/atT 0 -P2RX5 UCSF GRCh37 17 3593904 3593904 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 252 45 409 0 ENST00000225328.5:c.431G>A p.Gly144Glu p.G144E ENST00000225328 NM_001204519.1 144 gGa/gAa 0 -PA2G4 UCSF GRCh37 12 56501380 56501380 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 19 175 0 ENST00000303305.6:c.469G>A p.Val157Ile p.V157I ENST00000303305 NM_006191.2 157 Gtc/Atc 0 -PADI4 UCSF GRCh37 1 17666209 17666209 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 9 41 0 ENST00000375448.4:c.553C>T p.Leu185= p.L185= ENST00000375448 NM_012387.2 185 Ctg/Ttg 0 -PAK1 UCSF GRCh37 11 77054972 77054972 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 27 251 0 ENST00000356341.3:c.890C>T p.Ala297Val p.A297V ENST00000356341 NM_002576.4 297 gCc/gTc 0 -PANK2 UCSF GRCh37 20 3888757 3888757 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 155 23 207 0 ENST00000316562.4:c.813G>A p.Lys271= p.K271= ENST00000316562 NM_153638.2 271 aaG/aaA 0 -PAPD7 UCSF GRCh37 5 6746357 6746357 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 21 257 0 ENST00000230859.6:c.526G>A p.Asp176Asn p.D176N ENST00000230859 NM_001171805.1 176 Gat/Aat 0 -PAQR8 UCSF GRCh37 6 52268237 52268237 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 315 53 431 0 ENST00000360726.3:c.226G>A p.Val76Met p.V76M ENST00000360726 76 Gtg/Atg 0 -PARD3B UCSF GRCh37 2 206165297 206165297 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 5 35 0 ENST00000406610.2:c.2229G>A p.Lys743= p.K743= ENST00000406610 NM_205863.3 743 aaG/aaA 0 -PARP10 UCSF GRCh37 8 145051948 145051948 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 20 91 0 ENST00000313028.7:c.2782G>A p.Val928Met p.V928M ENST00000313028 NM_032789.3 928 Gtg/Atg 0 -PATZ1 UCSF GRCh37 22 31741085 31741085 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 40 213 0 ENST00000266269.5:c.504C>T p.Ala168= p.A168= ENST00000266269 NM_014323.2 168 gcC/gcT 0 -PBX3 UCSF GRCh37 9 128725342 128725342 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 6 45 0 ENST00000373489.5:c.1174C>T p.Leu392Phe p.L392F ENST00000373489 NM_006195.5 392 Ctt/Ttt 0 -PCBP1 UCSF GRCh37 2 70315113 70315113 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 11 113 0 ENST00000303577.5:c.238G>A p.Glu80Lys p.E80K ENST00000303577 NM_006196.3 80 Gag/Aag 0 -PCCB UCSF GRCh37 3 135980893 135980893 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 11 70 0 ENST00000251654.4:c.529G>A p.Ala177Thr p.A177T ENST00000251654 NM_000532.4 177 Gca/Aca 0 -PCCB UCSF GRCh37 3 136046504 136046504 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 31 100 0 ENST00000251654.4:c.1328G>A p.Ser443Asn p.S443N ENST00000251654 NM_000532.4 443 aGc/aAc 0 -PCDH17 UCSF GRCh37 13 58207455 58207455 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 200 37 291 0 ENST00000377918.3:c.775G>A p.Gly259Ser p.G259S ENST00000377918 NM_001040429.2 259 Ggt/Agt 0 -PCDHA1 UCSF GRCh37 5 140166180 140166180 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 14 62 0 ENST00000504120.2:c.305G>A p.Cys102Tyr p.C102Y ENST00000504120 NM_018900.2 102 tGc/tAc 0 -PCDHA1 UCSF GRCh37 5 140167511 140167511 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 4 27 0 ENST00000504120.2:c.1636G>A p.Gly546Ser p.G546S ENST00000504120 NM_018900.2 546 Ggc/Agc 0 -PCDHA4 UCSF GRCh37 5 140187587 140187587 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 208 30 346 0 ENST00000530339.1:c.815G>A p.Gly272Glu p.G272E ENST00000530339 NM_018907.2 272 gGa/gAa 0 -PCDHGA2 UCSF GRCh37 5 140720468 140720468 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 8 97 0 ENST00000394576.2:c.1930G>A p.Val644Met p.V644M ENST00000394576 NM_018915.2 644 Gtg/Atg 0 -PCDHGA2 UCSF GRCh37 5 140720761 140720761 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 22 80 0 ENST00000394576.2:c.2223G>A p.Val741= p.V741= ENST00000394576 NM_018915.2 741 gtG/gtA 0 -PCDHGB4 UCSF GRCh37 5 140769026 140769026 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 16 137 0 ENST00000519479.1:c.1575C>T p.Ala525= p.A525= ENST00000519479 NM_003736.2 525 gcC/gcT 0 -PCDHGB6 UCSF GRCh37 5 140789693 140789693 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 10 94 0 ENST00000520790.1:c.1924C>T p.Leu642= p.L642= ENST00000520790 NM_018926.2 642 Ctg/Ttg 0 -PCK1 UCSF GRCh37 20 56138627 56138627 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 4 28 0 ENST00000319441.4:c.805G>A p.Gly269Ser p.G269S ENST00000319441 NM_002591.3 269 Ggt/Agt 0 -PCLO UCSF GRCh37 7 82583161 82583161 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 12 124 0 ENST00000333891.9:c.7108G>A p.Glu2370Lys p.E2370K ENST00000333891 NM_033026.5 2370 Gaa/Aaa 0 -PCNT UCSF GRCh37 21 47805859 47805859 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 12 66 0 ENST00000359568.5:c.3425C>T p.Ser1142Phe p.S1142F ENST00000359568 NM_006031.5 1142 tCc/tTc 0 -PCNX UCSF GRCh37 14 71572113 71572113 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 10 65 0 ENST00000304743.2:c.6257G>A p.Gly2086Glu p.G2086E ENST00000304743 NM_014982.2 2086 gGa/gAa 0 -PDCD6IP UCSF GRCh37 3 33853593 33853593 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 285 37 427 0 ENST00000307296.3:c.239C>T p.Pro80Leu p.P80L ENST00000307296 80 cCc/cTc 0 -PDCD6IP UCSF GRCh37 3 33896693 33896693 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 6 20 0 ENST00000307296.3:c.2061C>T p.Phe687= p.F687= ENST00000307296 687 ttC/ttT 0 -PDE2A UCSF GRCh37 11 72292464 72292464 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 9 39 0 ENST00000334456.5:c.1982C>T p.Ala661Val p.A661V ENST00000334456 NM_002599.4 661 gCc/gTc 0 -PDE2A UCSF GRCh37 11 72291938 72291938 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 18 90 0 ENST00000334456.5:c.2125G>C p.Val709Leu p.V709L ENST00000334456 NM_002599.4 709 Gtg/Ctg 0 -PDE8A UCSF GRCh37 15 85610248 85610248 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 15 148 0 ENST00000310298.4:c.247C>T p.Leu83Phe p.L83F ENST00000310298 83 Ctt/Ttt 0 -PDGFB UCSF GRCh37 22 39639950 39639950 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 20 124 0 ENST00000331163.6:c.19C>T p.Leu7Phe p.L7F ENST00000331163 NM_002608.2 7 Ctc/Ttc 0 -PDGFC UCSF GRCh37 4 157689065 157689065 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 23 283 0 ENST00000502773.1:c.781G>A p.Glu261Lys p.E261K ENST00000502773 NM_016205.2 261 Gaa/Aaa 0 -PDHA2 UCSF GRCh37 4 96762127 96762127 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 17 71 0 ENST00000295266.4:c.826G>A p.Gly276Arg p.G276R ENST00000295266 NM_005390.4 276 Ggg/Agg 0 -PDHB UCSF GRCh37 3 58416454 58416454 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 13 89 0 ENST00000302746.6:c.519G>A p.Lys173= p.K173= ENST00000302746 NM_000925.3 173 aaG/aaA 0 -PDHX UCSF GRCh37 11 34938345 34938345 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 6 50 0 ENST00000227868.4:c.143G>A p.Ser48Asn p.S48N ENST00000227868 48 aGc/aAc 0 -PDIA5 UCSF GRCh37 3 122808018 122808018 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 13 105 0 ENST00000316218.7:c.46G>A p.Val16Ile p.V16I ENST00000316218 NM_006810.3 16 Gtc/Atc 0 -PDLIM3 UCSF GRCh37 4 186435434 186435434 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 28 284 0 ENST00000284770.5:c.388G>A p.Gly130Ser p.G130S ENST00000284770 NM_014476.5 130 Ggc/Agc 0 -PDXDC1 UCSF GRCh37 16 15125643 15125643 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 7 94 0 ENST00000396410.4:c.1451G>A p.Ser484Asn p.S484N ENST00000396410 NM_015027.2 484 aGc/aAc 0 -PDZD7 UCSF GRCh37 10 102778682 102778682 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 6 89 0 ENST00000370215.3:c.1221C>T p.Arg407= p.R407= ENST00000370215 NM_024895.4 407 cgC/cgT 0 -PDZRN4 UCSF GRCh37 12 41967428 41967428 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 240 40 356 0 ENST00000402685.2:c.2847C>T p.His949= p.H949= ENST00000402685 NM_001164595.1 949 caC/caT 0 -PEAK1 UCSF GRCh37 15 77425452 77425452 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 91 275 0 ENST00000312493.4:c.3972G>A p.Trp1324Ter p.W1324* ENST00000312493 NM_024776.3 1324 tgG/tgA 0 -PEBP1 UCSF GRCh37 12 118577290 118577290 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 7 98 0 ENST00000261313.2:c.280G>A p.Gly94Ser p.G94S ENST00000261313 NM_002567.2 94 Ggc/Agc 0 -PEX6 UCSF GRCh37 6 42941759 42941759 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 390 71 524 0 ENST00000304611.8:c.1112G>A p.Ser371Asn p.S371N ENST00000304611 NM_000287.3 371 aGt/aAt 0 -PFKFB4 UCSF GRCh37 3 48587613 48587613 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 173 28 229 0 ENST00000232375.3:c.152G>A p.Gly51Asp p.G51D ENST00000232375 NM_004567.2 51 gGc/gAc 0 -PGBD2 UCSF GRCh37 1 249211522 249211522 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 370 51 540 0 ENST00000329291.5:c.739C>T p.Pro247Ser p.P247S ENST00000329291 NM_170725.2 247 Cct/Tct 0 -PGM2 UCSF GRCh37 4 37831716 37831716 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 12 91 0 ENST00000381967.4:c.212C>T p.Ser71Phe p.S71F ENST00000381967 NM_018290.3 71 tCt/tTt 0 -PHACTR3 UCSF GRCh37 20 58152623 58152623 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 15 120 0 ENST00000359926.3:c.60C>T p.Gly20= p.G20= ENST00000359926 NM_001199505.1 20 ggC/ggT 0 -PHACTR3 UCSF GRCh37 20 58330317 58330317 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 30 181 0 ENST00000371015.1:c.439C>T p.Leu147= p.L147= ENST00000371015 NM_080672.4 147 Ctg/Ttg 0 -PHF1 UCSF GRCh37 6 33382758 33382758 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 7 27 0 ENST00000374516.3:c.1076G>A p.Gly359Glu p.G359E ENST00000374516 NM_024165.2 359 gGa/gAa 0 -PHF12 UCSF GRCh37 17 27251136 27251136 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 188 30 257 0 ENST00000332830.4:c.506C>T p.Ser169Phe p.S169F ENST00000332830 NM_001033561.1 169 tCc/tTc 0 -PHF12 UCSF GRCh37 17 27240296 27240296 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 17 85 0 ENST00000332830.4:c.1294-1G>A p.X432_splice ENST00000332830 NM_001033561.1 0 -PHF19 UCSF GRCh37 9 123620309 123620309 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 188 30 256 0 ENST00000373896.3:c.1656G>A p.Gly552= p.G552= ENST00000373896 NM_015651.1 552 ggG/ggA 0 -PHF2 UCSF GRCh37 9 96407928 96407928 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 19 102 0 ENST00000359246.4:c.317C>T p.Ala106Val p.A106V ENST00000359246 NM_005392.3 106 gCc/gTc 0 -PHF20 UCSF GRCh37 20 34458943 34458943 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 19 142 0 ENST00000374012.3:c.989G>A p.Arg330Lys p.R330K ENST00000374012 330 aGg/aAg 0 -PHF8 UCSF GRCh37 X 54043128 54043128 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 23 81 0 ENST00000357988.5:c.604G>A p.Ala202Thr p.A202T ENST00000357988 NM_001184896.1 202 Gct/Act 0 -PHGDH UCSF GRCh37 1 120254733 120254733 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 22 138 0 ENST00000369409.4:c.88G>A p.Val30Met p.V30M ENST00000369409 NM_006623.3 30 Gtg/Atg 0 -PHKA2 UCSF GRCh37 X 18912438 18912438 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 16 132 0 ENST00000379942.4:c.3421G>A p.Val1141Met p.V1141M ENST00000379942 NM_000292.2 1141 Gtg/Atg 0 -PHKG1 UCSF GRCh37 7 56149333 56149333 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 25 0 ENST00000297373.2:c.908G>A p.Gly303Glu p.G303E ENST00000297373 NM_006213.4 303 gGg/gAg 0 -PI4KB UCSF GRCh37 1 151280276 151280276 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 13 89 0 ENST00000368873.1:c.956C>T p.Pro319Leu p.P319L ENST00000368873 319 cCt/cTt 0 -PIAS3 UCSF GRCh37 1 145578398 145578398 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 315 49 462 0 ENST00000393045.2:c.361C>T p.Gln121Ter p.Q121* ENST00000393045 NM_006099.3 121 Cag/Tag 0 -PIEZO2 UCSF GRCh37 18 10691261 10691261 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 12 113 0 ENST00000503781.3:c.6972C>T p.Thr2324= p.T2324= ENST00000503781 NM_022068.2 2324 acC/acT 0 -PIGL UCSF GRCh37 17 16120652 16120652 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 27 205 0 ENST00000225609.5:c.112G>A p.Gly38Arg p.G38R ENST00000225609 NM_004278.3 38 Gga/Aga 0 -PIGZ UCSF GRCh37 3 196674425 196674425 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 7 54 0 ENST00000412723.1:c.1343C>T p.Ala448Val p.A448V ENST00000412723 NM_025163.3 448 gCc/gTc 0 -PIK3C2A UCSF GRCh37 11 17172087 17172087 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 23 262 1 ENST00000265970.7:c.1285G>A p.Asp429Asn p.D429N ENST00000265970 NM_002645.2 429 Gac/Aac 0 -PIK3R1 UCSF GRCh37 5 67522637 67522637 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 132 23 196 0 ENST00000521381.1:c.134G>A p.Gly45Glu p.G45E ENST00000521381 NM_181523.2 45 gGa/gAa 0 -PIK3R4 UCSF GRCh37 3 130398229 130398229 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 66 198 0 ENST00000356763.3:c.4007C>T p.Ala1336Val p.A1336V ENST00000356763 NM_014602.2 1336 gCc/gTc 0 -PITPNM3 UCSF GRCh37 17 6406878 6406878 + synonymous_variant Silent SNP C C A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 12 56 0 ENST00000262483.8:c.243G>T p.Pro81= p.P81= ENST00000262483 NM_031220.3 81 ccG/ccT 0 -PKD1 UCSF GRCh37 16 2142185 2142185 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 12 96 0 ENST00000262304.4:c.11274C>T p.Leu3758= p.L3758= ENST00000262304 NM_001009944.2 3758 ctC/ctT 0 -PKHD1L1 UCSF GRCh37 8 110535461 110535461 + splice_acceptor_variant Splice_Site SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 15 54 0 ENST00000378402.5:c.12331-1G>T p.X4111_splice ENST00000378402 NM_177531.4 0 -PKIG UCSF GRCh37 20 43243344 43243344 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 8 45 0 ENST00000349959.3:c.147G>A p.Gly49= p.G49= ENST00000349959 49 ggG/ggA 0 -PKN2 UCSF GRCh37 1 89298952 89298952 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 33 300 0 ENST00000370521.3:c.2776G>A p.Asp926Asn p.D926N ENST00000370521 NM_006256.2 926 Gac/Aac 0 -PKP1 UCSF GRCh37 1 201292273 201292273 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 5 53 0 ENST00000263946.3:c.1699G>A p.Ala567Thr p.A567T ENST00000263946 NM_000299.3 567 Gcc/Acc 0 -PKP4 UCSF GRCh37 2 159498999 159498999 + missense_variant,splice_region_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 5 41 0 ENST00000389759.3:c.1697T>C p.Val566Ala p.V566A ENST00000389759 NM_003628.3 566 gTg/gCg 0 -PLB1 UCSF GRCh37 2 28823694 28823694 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 12 79 0 ENST00000327757.5:c.2493C>T p.Val831= p.V831= ENST00000327757 NM_153021.4 831 gtC/gtT 0 -PLBD2 UCSF GRCh37 12 113806940 113806940 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 20 186 0 ENST00000280800.3:c.310G>A p.Gly104Ser p.G104S ENST00000280800 NM_173542.3 104 Ggc/Agc 0 -PLCD3 UCSF GRCh37 17 43194151 43194151 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 6 44 0 ENST00000322765.5:c.1261C>T p.Leu421= p.L421= ENST00000322765 NM_133373.3 421 Ctg/Ttg 0 -PLCD4 UCSF GRCh37 2 219496999 219496999 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 3 31 0 ENST00000417849.1:c.1413C>T p.Pro471= p.P471= ENST00000417849 471 ccC/ccT 0 -PLCH2 UCSF GRCh37 1 2435776 2435776 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.0138 P24_Rec2 Untested WXS Illumina HiSeq 211 36 249 0 ENST00000378486.3:c.3375G>A p.Thr1125= p.T1125= ENST00000378486 NM_014638.2 1125 acG/acA 0 -PLD5 UCSF GRCh37 1 242271036 242271036 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 19 136 0 ENST00000442594.2:c.900G>A p.Thr300= p.T300= ENST00000442594 NM_152666.2 300 acG/acA 0 -PLEC UCSF GRCh37 8 144996554 144996554 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 6 61 0 ENST00000322810.4:c.7846G>A p.Val2616Met p.V2616M ENST00000322810 NM_201380.2 2616 Gtg/Atg 0 -PLEC UCSF GRCh37 8 145003922 145003922 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 82 0 ENST00000322810.4:c.3226G>A p.Asp1076Asn p.D1076N ENST00000322810 NM_201380.2 1076 Gac/Aac 0 -PLEKHA7 UCSF GRCh37 11 16823347 16823347 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 8 42 0 ENST00000355661.3:c.2175G>A p.Val725= p.V725= ENST00000355661 725 gtG/gtA 0 -PLEKHA8 UCSF GRCh37 7 30118238 30118238 + missense_variant Missense_Mutation SNP T T G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 61 170 0 ENST00000449726.1:c.1395T>G p.Asp465Glu p.D465E ENST00000449726 NM_001197027.1 465 gaT/gaG 0 -PLEKHG4 UCSF GRCh37 16 67318226 67318226 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 22 212 0 ENST00000360461.5:c.1558G>A p.Glu520Lys p.E520K ENST00000360461 NM_001129727.1 520 Gag/Aag 0 -PLEKHG5 UCSF GRCh37 1 6579521 6579521 + downstream_gene_variant 3'Flank SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 17 141 0 ENST00000377705 NM_024654.4 0 -PLEKHH1 UCSF GRCh37 14 68029130 68029130 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 28 195 0 ENST00000329153.5:c.782G>A p.Arg261Lys p.R261K ENST00000329153 NM_020715.2 261 aGa/aAa 0 -PLEKHJ1 UCSF GRCh37 19 2235921 2235921 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 23 134 0 ENST00000326631.2:c.162+1G>A p.X54_splice ENST00000326631 NM_018049.1 0 -PLEKHM1 UCSF GRCh37 17 43555292 43555292 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 4 34 0 ENST00000430334.3:c.270G>A p.Trp90Ter p.W90* ENST00000430334 NM_014798.2 90 tgG/tgA 0 -PLEKHM2 UCSF GRCh37 1 16054173 16054173 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 13 104 0 ENST00000375799.3:c.1606G>A p.Glu536Lys p.E536K ENST00000375799 NM_015164.2 536 Gag/Aag 0 -PLIN4 UCSF GRCh37 19 4512416 4512416 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 200 79 259 0 ENST00000301286.3:c.1514C>T p.Thr505Ile p.T505I ENST00000301286 NM_001080400.1 505 aCc/aTc 0 -PLIN4 UCSF GRCh37 19 4504779 4504779 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 16 75 0 ENST00000301286.3:c.3766C>T p.Leu1256= p.L1256= ENST00000301286 NM_001080400.1 1256 Ctg/Ttg 0 -PLXNA2 UCSF GRCh37 1 208272276 208272276 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 14 83 0 ENST00000367033.3:c.1646C>T p.Pro549Leu p.P549L ENST00000367033 NM_025179.3 549 cCt/cTt 0 -PLXNA4 UCSF GRCh37 7 131888179 131888179 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 16 117 0 ENST00000321063.4:c.2299-1G>A p.X767_splice ENST00000321063 NM_020911.1 0 -PLXNB3 UCSF GRCh37 X 153040007 153040007 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 31 132 0 ENST00000361971.5:c.3811C>T p.Leu1271Phe p.L1271F ENST00000361971 NM_005393.2 1271 Ctc/Ttc 0 -PLXNB3 UCSF GRCh37 X 153041605 153041605 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 6 35 0 ENST00000361971.5:c.4665G>A p.Val1555= p.V1555= ENST00000361971 NM_005393.2 1555 gtG/gtA 0 -PNPLA6 UCSF GRCh37 19 7616255 7616255 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 12 82 0 ENST00000414982.3:c.2219C>T p.Thr740Ile p.T740I ENST00000414982 NM_001166111.1 740 aCc/aTc 0 -PNPO UCSF GRCh37 17 46023984 46023984 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 23 127 0 ENST00000225573.4:c.622G>A p.Gly208Ser p.G208S ENST00000225573 NM_018129.3 208 Ggc/Agc 0 -PODXL UCSF GRCh37 7 131196090 131196090 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 19 142 0 ENST00000378555.3:c.203C>T p.Thr68Ile p.T68I ENST00000378555 68 aCt/aTt 0 -POGLUT1 UCSF GRCh37 3 119196263 119196263 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 6 36 0 ENST00000295588.4:c.424G>A p.Glu142Lys p.E142K ENST00000295588 NM_152305.2 142 Gag/Aag 0 -POLD1 UCSF GRCh37 19 50918726 50918726 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 13 83 0 ENST00000440232.2:c.2596G>A p.Asp866Asn p.D866N ENST00000440232 NM_002691.3 866 Gac/Aac 0 -POLE UCSF GRCh37 12 133250267 133250267 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 195 30 252 0 ENST00000320574.5:c.1253C>T p.Pro418Leu p.P418L ENST00000320574 NM_006231.2 418 cCt/cTt 0 -POLG UCSF GRCh37 15 89859994 89859994 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 114 349 0 ENST00000268124.5:c.3708G>A p.Gln1236= p.Q1236= ENST00000268124 NM_001126131.1 1236 caG/caA 0 -POLK UCSF GRCh37 5 74886260 74886260 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 11 85 0 ENST00000241436.4:c.1351C>T p.Leu451Phe p.L451F ENST00000241436 NM_016218.2 451 Ctt/Ttt 0 -POLQ UCSF GRCh37 3 121238772 121238772 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 4 41 0 ENST00000264233.5:c.1414C>T p.Leu472Phe p.L472F ENST00000264233 NM_199420.3 472 Ctt/Ttt 0 -POLQ UCSF GRCh37 3 121192275 121192275 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 184 33 296 0 ENST00000264233.5:c.6465G>A p.Lys2155= p.K2155= ENST00000264233 NM_199420.3 2155 aaG/aaA 0 -POLR1A UCSF GRCh37 2 86276299 86276299 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 8 65 0 ENST00000263857.6:c.2459C>T p.Thr820Ile p.T820I ENST00000263857 820 aCc/aTc 0 -POLR3B UCSF GRCh37 12 106786810 106786810 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 19 173 1 ENST00000228347.4:c.725C>T p.Ala242Val p.A242V ENST00000228347 NM_018082.5 242 gCc/gTc 0 -POLR3C UCSF GRCh37 1 145608438 145608438 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 253 42 345 0 ENST00000334163.3:c.369G>A p.Lys123= p.K123= ENST00000334163 NM_006468.6 123 aaG/aaA 0 -POLR3G UCSF GRCh37 5 89791543 89791543 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 198 22 350 0 ENST00000399107.1:c.297G>A p.Trp99Ter p.W99* ENST00000399107 NM_006467.2 99 tgG/tgA 0 -POLR3GL UCSF GRCh37 1 145457265 145457265 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 21 182 0 ENST00000369314.1:c.427G>A p.Asp143Asn p.D143N ENST00000369314 NM_032305.1 143 Gat/Aat 0 -POLRMT UCSF GRCh37 19 619040 619040 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 5 30 0 ENST00000588649.2:c.3224G>A p.Gly1075Asp p.G1075D ENST00000588649 NM_005035.3 1075 gGc/gAc 0 -PORCN UCSF GRCh37 X 48370884 48370884 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 17 64 0 ENST00000326194.6:c.544G>A p.Gly182Ser p.G182S ENST00000326194 NM_203475.1 182 Ggc/Agc 0 -POU1F1 UCSF GRCh37 3 87313588 87313588 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 17 164 0 ENST00000350375.2:c.289C>T p.Leu97Phe p.L97F ENST00000350375 NM_000306.2 97 Ctt/Ttt 0 -POU2AF1 UCSF GRCh37 11 111225225 111225225 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 7 61 0 ENST00000393067.3:c.532C>T p.Pro178Ser p.P178S ENST00000393067 NM_006235.2 178 Ccg/Tcg 0 -POU2F1 UCSF GRCh37 1 167358932 167358932 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 88 267 0 ENST00000541643.3:c.852C>T p.Asp284= p.D284= ENST00000541643 284 gaC/gaT 0 -PPAP2C UCSF GRCh37 19 281472 281472 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 8 63 0 ENST00000434325.2:c.615G>A p.Leu205= p.L205= ENST00000434325 205 ctG/ctA 0 -PPAPDC2 UCSF GRCh37 9 4662876 4662876 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 14 136 0 ENST00000381883.2:c.501G>A p.Met167Ile p.M167I ENST00000381883 NM_203453.3 167 atG/atA 0 -PPARGC1A UCSF GRCh37 4 23814383 23814383 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 536 93 841 0 ENST00000264867.2:c.2006G>A p.Arg669Lys p.R669K ENST00000264867 NM_013261.3 669 aGg/aAg 0 -PPCS UCSF GRCh37 1 42925543 42925543 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 20 201 0 ENST00000372561.3:c.882G>A p.Lys294= p.K294= ENST00000372561 NM_024664.2 294 aaG/aaA 0 -PPIC UCSF GRCh37 5 122359692 122359692 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 194 34 279 0 ENST00000306442.4:c.517G>A p.Val173Met p.V173M ENST00000306442 NM_000943.4 173 Gtg/Atg 0 -PPIG UCSF GRCh37 2 170493243 170493243 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 7 77 0 ENST00000260970.3:c.1475G>A p.Arg492Lys p.R492K ENST00000260970 NM_004792.2 492 aGg/aAg 0 -PPL UCSF GRCh37 16 4934223 4934223 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 42 276 0 ENST00000345988.2:c.4433G>A p.Gly1478Glu p.G1478E ENST00000345988 NM_002705.4 1478 gGg/gAg 0 -PPL UCSF GRCh37 16 4945402 4945402 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 7 64 0 ENST00000345988.2:c.1102G>A p.Glu368Lys p.E368K ENST00000345988 NM_002705.4 368 Gag/Aag 0 -PPL UCSF GRCh37 16 4935581 4935581 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 477 61 577 0 ENST00000345988.2:c.3075C>T p.Gly1025= p.G1025= ENST00000345988 NM_002705.4 1025 ggC/ggT 0 -PPP1R10 UCSF GRCh37 6 30569755 30569755 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 11 81 0 ENST00000376511.2:c.2671G>A p.Gly891Arg p.G891R ENST00000376511 NM_002714.3 891 Ggg/Agg 0 -PPP1R12A UCSF GRCh37 12 80199970 80199970 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 5 48 0 ENST00000261207.5:c.1799C>T p.Ser600Phe p.S600F ENST00000261207 NM_001143885.1 600 tCt/tTt 0 -PPP1R12C UCSF GRCh37 19 55603275 55603275 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 4 17 0 ENST00000263433.3:c.2163G>A p.Arg721= p.R721= ENST00000263433 NM_017607.3 721 agG/agA 0 -PPP1R1B UCSF GRCh37 17 37791937 37791937 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 19 113 0 ENST00000254079.4:c.523G>A p.Asp175Asn p.D175N ENST00000254079 NM_032192.3 175 Gat/Aat 0 -PPP1R1B UCSF GRCh37 17 37792068 37792068 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 197 29 274 0 ENST00000254079.4:c.566-1G>A p.X189_splice ENST00000254079 NM_032192.3 0 -PPP1R9A UCSF GRCh37 7 94539523 94539523 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 19 154 0 ENST00000340694.4:c.98C>T p.Thr33Ile p.T33I ENST00000340694 NM_001166163.1 33 aCc/aTc 0 -PPP2R1A UCSF GRCh37 19 52723488 52723488 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 25 180 0 ENST00000322088.6:c.1349G>A p.Trp450Ter p.W450* ENST00000322088 NM_014225.5 450 tGg/tAg 0 -PPP4R1 UCSF GRCh37 18 9550083 9550083 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 14 165 0 ENST00000400556.3:c.2514G>A p.Trp838Ter p.W838* ENST00000400556 NM_001042388.2 838 tgG/tgA 0 -PPP6R2 UCSF GRCh37 22 50860692 50860692 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 10 114 0 ENST00000216061.5:c.855C>T p.Gly285= p.G285= ENST00000216061 285 ggC/ggT 0 -PQLC1 UCSF GRCh37 18 77679347 77679347 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 12 36 0 ENST00000397778.2:c.445T>C p.Cys149Arg p.C149R ENST00000397778 NM_025078.4 149 Tgc/Cgc 0 -PQLC2 UCSF GRCh37 1 19652012 19652012 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 18 94 0 ENST00000375153.3:c.318C>T p.Val106= p.V106= ENST00000375153 NM_001040125.1 106 gtC/gtT 0 -PRAM1 UCSF GRCh37 19 8563584 8563584 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 19 178 0 ENST00000423345.4:c.1108C>T p.Pro370Ser p.P370S ENST00000423345 370 Ccg/Tcg 0 -PRB2 UCSF GRCh37 12 11546488 11546488 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 4 25 0 ENST00000389362.4:c.524C>T p.Ser175Phe p.S175F ENST00000389362 NM_006248.3 175 tCt/tTt 0 -PRDM1 UCSF GRCh37 6 106547225 106547225 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 9 75 0 ENST00000369096.4:c.462G>A p.Glu154= p.E154= ENST00000369096 NM_001198.3 154 gaG/gaA 0 -PRELID2 UCSF GRCh37 5 145198978 145198978 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 15 160 0 ENST00000334744.4:c.208-1G>A p.X70_splice ENST00000334744 NM_182960.2 0 -PREX1 UCSF GRCh37 20 47274678 47274678 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 366 251 686 0 ENST00000371941.3:c.1970C>T p.Ala657Val p.A657V ENST00000371941 NM_020820.3 657 gCt/gTt 0 -PRKAA2 UCSF GRCh37 1 57169883 57169883 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 377 58 544 0 ENST00000371244.4:c.1028C>T p.Ala343Val p.A343V ENST00000371244 NM_006252.3 343 gCc/gTc 0 -PRKAR2B UCSF GRCh37 7 106793633 106793633 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 18 214 0 ENST00000265717.4:c.855C>T p.Arg285= p.R285= ENST00000265717 NM_002736.2 285 cgC/cgT 0 -PRKCE UCSF GRCh37 2 46411943 46411943 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 252 148 555 0 ENST00000306156.3:c.2137G>A p.Asp713Asn p.D713N ENST00000306156 NM_005400.2 713 Gac/Aac 0 -PRKCE UCSF GRCh37 2 45879539 45879539 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 6 41 0 ENST00000306156.3:c.300C>T p.Ile100= p.I100= ENST00000306156 NM_005400.2 100 atC/atT 0 -PRKD2 UCSF GRCh37 19 47207845 47207845 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 155 28 163 0 ENST00000291281.4:c.573C>T p.Ala191= p.A191= ENST00000291281 191 gcC/gcT 0 -PRKDC UCSF GRCh37 8 48746825 48746825 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 17 118 0 ENST00000314191.2:c.8081C>T p.Ser2694Leu p.S2694L ENST00000314191 NM_006904.6 2694 tCa/tTa 0 -PRKDC UCSF GRCh37 8 48686847 48686847 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 20 204 0 ENST00000314191.2:c.12271C>T p.Gln4091Ter p.Q4091* ENST00000314191 NM_006904.6 4091 Caa/Taa 0 -PRKX UCSF GRCh37 X 3631222 3631222 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 11 4 14 0 ENST00000262848.5:c.73G>A p.Asp25Asn p.D25N ENST00000262848 NM_005044.4 25 Gac/Aac 0 -PRMT5 UCSF GRCh37 14 23393582 23393582 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 155 27 216 0 ENST00000324366.8:c.1096G>A p.Ala366Thr p.A366T ENST00000324366 NM_006109.3 366 Gca/Aca 0 -PRMT6 UCSF GRCh37 1 107599844 107599844 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 18 144 0 ENST00000370078.1:c.507C>T p.Ser169= p.S169= ENST00000370078 169 tcC/tcT 0 -PRMT7 UCSF GRCh37 16 68349966 68349966 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 3 78 0 ENST00000339507.5:c.84G>A p.Gln28= p.Q28= ENST00000339507 28 caG/caA 0 -PRODH2 UCSF GRCh37 19 36303727 36303727 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 10 96 0 ENST00000301175.3:c.209G>A p.Gly70Glu p.G70E ENST00000301175 NM_021232.1 70 gGa/gAa 0 -PRODH2 UCSF GRCh37 19 36303717 36303717 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 17 101 0 ENST00000301175.3:c.219G>A p.Gln73= p.Q73= ENST00000301175 NM_021232.1 73 caG/caA 0 -PROS1 UCSF GRCh37 3 93595954 93595954 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 28 222 0 ENST00000394236.3:c.1726G>A p.Glu576Lys p.E576K ENST00000394236 NM_000313.3 576 Gaa/Aaa 0 -PROSER1 UCSF GRCh37 13 39586978 39586978 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 9 57 0 ENST00000352251.3:c.2411C>T p.Pro804Leu p.P804L ENST00000352251 NM_025138.4 804 cCc/cTc 0 -PROX1 UCSF GRCh37 1 214170574 214170574 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 17 98 0 ENST00000261454.4:c.696G>A p.Lys232= p.K232= ENST00000261454 232 aaG/aaA 0 -PRPH UCSF GRCh37 12 49690754 49690754 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 13 36 0 ENST00000257860.4:c.785C>T p.Thr262Met p.T262M ENST00000257860 NM_006262.3 262 aCg/aTg 0 -PRR11 UCSF GRCh37 17 57272127 57272127 + synonymous_variant Silent SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 32 91 0 ENST00000262293.4:c.655T>C p.Leu219= p.L219= ENST00000262293 NM_018304.3 219 Tta/Cta 0 -PRR12 UCSF GRCh37 19 50098074 50098074 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 237 36 364 0 ENST00000418929.2:c.482C>T p.Pro161Leu p.P161L ENST00000418929 NM_020719.1 161 cCc/cTc 0 -PRR14L UCSF GRCh37 22 32081545 32081545 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 360 65 583 1 ENST00000327423.6:c.6424G>A p.Glu2142Lys p.E2142K ENST00000327423 NM_173566.2 2142 Gaa/Aaa 0 -PRR5L UCSF GRCh37 11 36458955 36458955 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 366 68 534 0 ENST00000378867.3:c.373C>T p.Leu125= p.L125= ENST00000378867 NM_024841.4 125 Ctg/Ttg 0 -PRRC2A UCSF GRCh37 6 31593028 31593028 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 22 187 0 ENST00000376007.4:c.544G>A p.Ala182Thr p.A182T ENST00000376007 NM_080686.2 182 Gct/Act 0 -PRRC2C UCSF GRCh37 1 171535927 171535927 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 12 142 0 ENST00000338920.4:c.6497C>T p.Thr2166Ile p.T2166I ENST00000338920 NM_015172.3 2166 aCt/aTt 0 -PRRC2C UCSF GRCh37 1 171509943 171509943 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 44 289 0 ENST00000338920.4:c.3332G>A p.Ser1111Asn p.S1111N ENST00000338920 NM_015172.3 1111 aGt/aAt 0 -PRRT3 UCSF GRCh37 3 9987933 9987933 + missense_variant,NMD_transcript_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 23 151 0 ENST00000295984.3:c.2924C>T p.Ser975Phe p.S975F ENST00000295984 975 tCc/tTc 0 -PRRX1 UCSF GRCh37 1 170695366 170695366 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 29 190 0 ENST00000239461.6:c.423G>A p.Trp141Ter p.W141* ENST00000239461 NM_022716.2 141 tgG/tgA 0 -PRSS27 UCSF GRCh37 16 2764279 2764279 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 160 22 202 0 ENST00000302641.3:c.295G>A p.Gly99Arg p.G99R ENST00000302641 NM_031948.3 99 Gga/Aga 0 -PRSS36 UCSF GRCh37 16 31155070 31155070 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 161 19 200 0 ENST00000268281.4:c.809G>A p.Arg270Lys p.R270K ENST00000268281 NM_173502.4 270 aGa/aAa 0 -PRSS57 UCSF GRCh37 19 691942 691942 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 16 58 0 ENST00000329267.7:c.297C>T p.Thr99= p.T99= ENST00000329267 NM_214710.3 99 acC/acT 0 -PRUNE2 UCSF GRCh37 9 79323744 79323744 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 429 65 600 0 ENST00000376718.3:c.3446G>A p.Ser1149Asn p.S1149N ENST00000376718 NM_015225.2 1149 aGt/aAt 0 -PRUNE2 UCSF GRCh37 9 79320935 79320935 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 237 46 336 0 ENST00000376718.3:c.6255G>A p.Glu2085= p.E2085= ENST00000376718 NM_015225.2 2085 gaG/gaA 0 -PRX UCSF GRCh37 19 40899917 40899917 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 4 31 0 ENST00000324001.7:c.4342C>T p.Pro1448Ser p.P1448S ENST00000324001 NM_181882.2 1448 Cca/Tca 0 -PSD UCSF GRCh37 10 104172277 104172277 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 18 176 0 ENST00000020673.5:c.1609G>A p.Glu537Lys p.E537K ENST00000020673 NM_001270966.1 537 Gag/Aag 0 -PSD2 UCSF GRCh37 5 139189372 139189372 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 22 84 0 ENST00000274710.3:c.347C>T p.Pro116Leu p.P116L ENST00000274710 NM_032289.2 116 cCa/cTa 0 -PSEN2 UCSF GRCh37 1 227083262 227083262 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 42 210 0 ENST00000366783.3:c.1329C>T p.Ser443= p.S443= ENST00000366783 NM_000447.2 443 tcC/tcT 0 -PSMB5 UCSF GRCh37 14 23502717 23502717 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 235 35 315 0 ENST00000361611.6:c.365G>A p.Cys122Tyr p.C122Y ENST00000361611 NM_002797.3 122 tGt/tAt 0 -PSMB6 UCSF GRCh37 17 4700831 4700831 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 36 250 1 ENST00000270586.3:c.269C>T p.Ala90Val p.A90V ENST00000270586 NM_002798.2 90 gCt/gTt 0 -PSMD3 UCSF GRCh37 17 38146367 38146367 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 7 23 0 ENST00000264639.4:c.898C>T p.Leu300= p.L300= ENST00000264639 NM_002809.3 300 Ctg/Ttg 0 -PSPC1 UCSF GRCh37 13 20325505 20325505 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 19 97 0 ENST00000338910.4:c.873G>A p.Glu291= p.E291= ENST00000338910 NM_001042414.2 291 gaG/gaA 0 -PSTPIP1 UCSF GRCh37 15 77328155 77328155 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 17 84 0 ENST00000558012.1:c.998C>T p.Thr333Ile p.T333I ENST00000558012 NM_003978.3 333 aCc/aTc 0 -PTAR1 UCSF GRCh37 9 72374784 72374784 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 15 119 0 ENST00000340434.4:c.71G>A p.Arg24Lys p.R24K ENST00000340434 NM_001099666.1 24 aGg/aAg 0 -PTBP2 UCSF GRCh37 1 97217025 97217025 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 10 110 0 ENST00000426398.2:c.84G>A p.Pro28= p.P28= ENST00000426398 NM_021190.2 28 ccG/ccA 0 -PTCH1 UCSF GRCh37 9 98222034 98222034 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 15 90 0 ENST00000331920.6:c.2735G>A p.Gly912Asp p.G912D ENST00000331920 NM_000264.3 912 gGc/gAc 0 -PTEN UCSF GRCh37 10 89692877 89692877 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 146 49 394 0 ENST00000371953.3:c.361G>A p.Ala121Thr p.A121T ENST00000371953 NM_000314.4 121 Gca/Aca 0 -PTEN UCSF GRCh37 10 89711875 89711875 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 49 15 134 0 ENST00000371953.3:c.493G>A p.Gly165Arg p.G165R ENST00000371953 NM_000314.4 165 Gga/Aga 0 -PTGDR UCSF GRCh37 14 52735256 52735256 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 211 45 319 0 ENST00000306051.2:c.724G>A p.Asp242Asn p.D242N ENST00000306051 NM_000953.2 242 Gac/Aac 0 -PTK2B UCSF GRCh37 8 27287616 27287616 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 617 78 603 0 ENST00000346049.5:c.558C>T p.Phe186= p.F186= ENST00000346049 NM_173176.2 186 ttC/ttT 0 -PTPDC1 UCSF GRCh37 9 96860280 96860280 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 197 25 296 0 ENST00000375360.3:c.1270C>T p.Pro424Ser p.P424S ENST00000375360 NM_001253830.1 424 Ccc/Tcc 0 -PTPN14 UCSF GRCh37 1 214557450 214557450 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 25 128 0 ENST00000366956.5:c.1748C>T p.Ala583Val p.A583V ENST00000366956 NM_005401.4 583 gCc/gTc 0 -PTPN21 UCSF GRCh37 14 88946277 88946277 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.000,1000g2011may_all_0.0020 P24_Rec2 Untested WXS Illumina HiSeq 67 14 71 0 ENST00000328736.3:c.1498G>A p.Ala500Thr p.A500T ENST00000328736 500 Gca/Aca 0 -PTPN23 UCSF GRCh37 3 47451032 47451032 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 12 92 0 ENST00000265562.4:c.1923G>A p.Arg641= p.R641= ENST00000265562 NM_015466.2 641 cgG/cgA 0 -PTPRD UCSF GRCh37 9 8485797 8485797 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 10 87 0 ENST00000356435.5:c.3020C>T p.Pro1007Leu p.P1007L ENST00000356435 1007 cCc/cTc 0 -PTPRH UCSF GRCh37 19 55693383 55693383 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 337 61 511 0 ENST00000376350.3:c.3198+1G>A p.X1066_splice ENST00000376350 NM_002842.3 0 -PTPRH UCSF GRCh37 19 55715304 55715304 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 37 262 0 ENST00000376350.3:c.732G>A p.Gln244= p.Q244= ENST00000376350 NM_002842.3 244 caG/caA 0 -PTPRM UCSF GRCh37 18 8069855 8069855 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 24 186 0 ENST00000332175.8:c.1304G>A p.Trp435Ter p.W435* ENST00000332175 NM_002845.3 435 tGg/tAg 0 -PUM1 UCSF GRCh37 1 31425201 31425201 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 5 58 0 ENST00000257075.5:c.2601G>A p.Gln867= p.Q867= ENST00000257075 NM_014676.2 867 caG/caA 0 -PUS7 UCSF GRCh37 7 105148954 105148954 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 67 203 0 ENST00000356362.2:c.6G>A p.Glu2= p.E2= ENST00000356362 NM_019042.3 2 gaG/gaA 0 -PUS7 UCSF GRCh37 7 105105815 105105815 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 59 226 0 ENST00000356362.2:c.1572C>T p.Ile524= p.I524= ENST00000356362 NM_019042.3 524 atC/atT 0 -PUSL1 UCSF GRCh37 1 1244534 1244534 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 19 144 0 ENST00000379031.5:c.204G>A p.Gly68= p.G68= ENST00000379031 NM_153339.1 68 ggG/ggA 0 -PVRL4 UCSF GRCh37 1 161042643 161042643 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 171 24 225 0 ENST00000368012.3:c.1341G>A p.Thr447= p.T447= ENST00000368012 NM_030916.2 447 acG/acA 0 -PXN UCSF GRCh37 12 120661972 120661972 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 15 114 0 ENST00000228307.7:c.222C>T p.Ser74= p.S74= ENST00000228307 NM_001080855.2 74 tcC/tcT 0 -PYCARD UCSF GRCh37 16 31212947 31212947 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 12 86 0 ENST00000247470.9:c.547G>A p.Glu183Lys p.E183K ENST00000247470 NM_013258.4 183 Gag/Aag 0 -QRICH1 UCSF GRCh37 3 49095184 49095184 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 30 213 0 ENST00000357496.2:c.449C>T p.Ser150Phe p.S150F ENST00000357496 NM_017730.2 150 tCc/tTc 0 -RAB11B UCSF GRCh37 19 8467013 8467013 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 9 74 0 ENST00000328024.6:c.280G>A p.Ala94Thr p.A94T ENST00000328024 NM_004218.3 94 Gcc/Acc 0 -RAB25 UCSF GRCh37 1 156040048 156040048 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 263 49 341 0 ENST00000361084.5:c.612G>A p.Gly204= p.G204= ENST00000361084 NM_020387.2 204 ggG/ggA 0 -RAB33B UCSF GRCh37 4 140394125 140394125 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 9 216 0 ENST00000305626.5:c.535G>A p.Ala179Thr p.A179T ENST00000305626 NM_031296.1 179 Gct/Act 0 -RAB39 UCSF GRCh37 11 107832857 107832857 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 30 256 0 ENST00000320578.2:c.413C>T p.Thr138Ile p.T138I ENST00000320578 NM_017516.1 138 aCa/aTa 0 -RAB41 UCSF GRCh37 X 69502395 69502395 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 62 108 0 ENST00000374473.2:c.137C>T p.Ser46Phe p.S46F ENST00000374473 46 tCc/tTc 0 -RAB6A UCSF GRCh37 11 73441816 73441816 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 11 42 0 ENST00000336083.3:c.123C>T p.Thr41= p.T41= ENST00000336083 NM_198896.1 41 acC/acT 0 -RAB7A UCSF GRCh37 3 128514235 128514235 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 23 161 0 ENST00000265062.3:c.25C>T p.Leu9= p.L9= ENST00000265062 NM_004637.5 9 Ctg/Ttg 0 -RAB8A UCSF GRCh37 19 16229055 16229055 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 12 107 0 ENST00000300935.3:c.144G>A p.Arg48= p.R48= ENST00000300935 NM_005370.4 48 agG/agA 0 -RAB9B UCSF GRCh37 X 103080138 103080138 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 29 129 0 ENST00000243298.2:c.577G>A p.Gly193Ser p.G193S ENST00000243298 NM_016370.2 193 Ggc/Agc 0 -RAB9B UCSF GRCh37 X 103080687 103080687 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 14 195 0 ENST00000243298.2:c.28G>A p.Val10Ile p.V10I ENST00000243298 NM_016370.2 10 Gtc/Atc 0 -RABEP1 UCSF GRCh37 17 5253909 5253909 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 21 257 0 ENST00000537505.1:c.819G>A p.Leu273= p.L273= ENST00000537505 273 ctG/ctA 0 -RAD52 UCSF GRCh37 12 1042140 1042140 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 333 47 381 0 ENST00000358495.3:c.84+1G>A p.X28_splice ENST00000358495 NM_134424.2 0 -RADIL UCSF GRCh37 7 4841284 4841284 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 3 23 0 ENST00000399583.3:c.2842G>A p.Gly948Arg p.G948R ENST00000399583 NM_018059.4 948 Gga/Aga 0 -RAET1G UCSF GRCh37 6 150239357 150239357 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 16 87 0 ENST00000367360.2:c.795C>T p.Pro265= p.P265= ENST00000367360 NM_001001788.2 265 ccC/ccT 0 -RAG1 UCSF GRCh37 11 36596534 36596534 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 12 108 0 ENST00000299440.5:c.1680C>T p.Phe560= p.F560= ENST00000299440 NM_000448.2 560 ttC/ttT 0 -RAI14 UCSF GRCh37 5 34823332 34823332 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 28 260 0 ENST00000265109.3:c.1385G>A p.Arg462Gln p.R462Q ENST00000265109 NM_015577.2 462 cGa/cAa 0 -RALGAPA2 UCSF GRCh37 20 20506958 20506958 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 15 149 0 ENST00000202677.7:c.3631C>T p.Leu1211= p.L1211= ENST00000202677 NM_020343.3 1211 Ctg/Ttg 0 -RAPGEF5 UCSF GRCh37 7 22186635 22186635 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 428 54 456 0 ENST00000401957.2:c.978C>T p.Asn326= p.N326= ENST00000401957 326 aaC/aaT 0 -RARS UCSF GRCh37 5 167944905 167944905 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 19 229 0 ENST00000231572.3:c.1711G>A p.Glu571Lys p.E571K ENST00000231572 NM_002887.3 571 Gaa/Aaa 0 -RASAL3 UCSF GRCh37 19 15564017 15564017 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 14 104 0 ENST00000343625.7:c.2571C>T p.Ser857= p.S857= ENST00000343625 NM_022904.1 857 tcC/tcT 0 -RASGRF1 UCSF GRCh37 15 79307703 79307703 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 13 160 0 ENST00000419573.3:c.1792G>A p.Glu598Lys p.E598K ENST00000419573 NM_002891.4 598 Gaa/Aaa 0 -RASGRF2 UCSF GRCh37 5 80366380 80366380 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 13 129 0 ENST00000265080.4:c.613G>A p.Asp205Asn p.D205N ENST00000265080 NM_006909.2 205 Gac/Aac 0 -RASGRF2 UCSF GRCh37 5 80497218 80497218 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 12 169 0 ENST00000265080.4:c.2863G>A p.Asp955Asn p.D955N ENST00000265080 NM_006909.2 955 Gac/Aac 0 -RASGRP3 UCSF GRCh37 2 33774715 33774715 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 233 26 333 0 ENST00000402538.3:c.1439G>A p.Arg480Lys p.R480K ENST00000402538 NM_170672.2 480 aGa/aAa 0 -RASGRP4 UCSF GRCh37 19 38900712 38900712 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 17 118 0 ENST00000587738.1:c.1990C>T p.Pro664Ser p.P664S ENST00000587738 664 Cca/Tca 0 -RASSF2 UCSF GRCh37 20 4771121 4771121 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 14 148 0 ENST00000379376.2:c.513C>T p.Ile171= p.I171= ENST00000379376 NM_170774.1 171 atC/atT 0 -RB1CC1 UCSF GRCh37 8 53574101 53574101 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 10 68 0 ENST00000025008.5:c.1352G>A p.Arg451Lys p.R451K ENST00000025008 NM_014781.4 451 aGa/aAa 0 -RBBP7 UCSF GRCh37 X 16887659 16887659 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 61 86 0 ENST00000380087.2:c.17-316G>A *6* ENST00000380087 0 -RBFOX1 UCSF GRCh37 16 7726800 7726800 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 31 227 0 ENST00000547338.1:c.955G>A p.Ala319Thr p.A319T ENST00000547338 NM_001142334.1 319 Gcc/Acc 0 -RBFOX2 UCSF GRCh37 22 36142030 36142030 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 8 82 0 ENST00000438146.2:c.1251G>A p.Val417= p.V417= ENST00000438146 NM_001082578.1 417 gtG/gtA 0 -RBL1 UCSF GRCh37 20 35635934 35635934 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 17 139 0 ENST00000373664.3:c.2751C>T p.Asp917= p.D917= ENST00000373664 NM_002895.3 917 gaC/gaT 0 -RBM12 UCSF GRCh37 20 34241786 34241786 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 339 82 588 0 ENST00000359646.1:c.1459G>A p.Ala487Thr p.A487T ENST00000359646 487 Gct/Act 0 -RBM14 UCSF GRCh37 11 66393129 66393129 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 13 22 0 ENST00000310137.4:c.1782G>A p.Lys594= p.K594= ENST00000310137 NM_006328.3 594 aaG/aaA 0 -RBM15 UCSF GRCh37 1 110882844 110882844 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 25 175 0 ENST00000369784.3:c.817G>A p.Val273Ile p.V273I ENST00000369784 NM_022768.4 273 Gtc/Atc 0 -RBM15 UCSF GRCh37 1 110888949 110888949 + 3_prime_UTR_variant 3'UTR SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 11 114 0 ENST00000369784.3:c.*60G>A *20* ENST00000369784 NM_022768.4 0 -RBM15B UCSF GRCh37 3 51431474 51431474 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 20 233 0 ENST00000323686.4:c.2644G>A p.Val882Met p.V882M ENST00000323686 NM_013286.4 882 Gtg/Atg 0 -RBM19 UCSF GRCh37 12 114282513 114282513 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 5 32 0 ENST00000261741.5:c.2745C>T p.Thr915= p.T915= ENST00000261741 NM_016196.3 915 acC/acT 0 -RBM20 UCSF GRCh37 10 112570210 112570210 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 12 65 0 ENST00000369519.3:c.1870G>A p.Glu624Lys p.E624K ENST00000369519 NM_001134363.1 624 Gaa/Aaa 0 -RBM45 UCSF GRCh37 2 178981094 178981094 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 22 233 0 ENST00000286070.5:c.406C>T p.Leu136= p.L136= ENST00000286070 NM_152945.2 136 Ctg/Ttg 0 -RBM47 UCSF GRCh37 4 40438596 40438596 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 448 66 693 0 ENST00000295971.7:c.1192C>T p.Leu398Phe p.L398F ENST00000295971 NM_001098634.1 398 Ctc/Ttc 0 -RBMS3 UCSF GRCh37 3 29323205 29323205 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 11 91 0 ENST00000383767.2:c.33C>T p.Tyr11= p.Y11= ENST00000383767 11 taC/taT 0 -RBPJ UCSF GRCh37 4 26431661 26431661 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 33 137 0 ENST00000342295.1:c.1069G>A p.Val357Ile p.V357I ENST00000342295 NM_005349.3 357 Gta/Ata 0 -RBPJL UCSF GRCh37 20 43943147 43943147 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 11 4 32 0 ENST00000343694.3:c.962C>T p.Pro321Leu p.P321L ENST00000343694 NM_001281449.1 321 cCc/cTc 0 -RC3H1 UCSF GRCh37 1 173916628 173916628 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 26 161 0 ENST00000258349.4:c.2616C>T p.Asp872= p.D872= ENST00000258349 NM_172071.2 872 gaC/gaT 0 -RDBP UCSF GRCh37 6 31922509 31922509 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 479 86 601 0 ENST00000375429.3:c.565G>A p.Asp189Asn p.D189N ENST00000375429 NM_002904.5 189 Gac/Aac 0 -RDBP UCSF GRCh37 6 31922869 31922869 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 190 43 338 0 ENST00000375429.3:c.371C>T p.Ser124Phe p.S124F ENST00000375429 NM_002904.5 124 tCc/tTc 0 -RDX UCSF GRCh37 11 110150413 110150413 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 12 101 0 ENST00000343115.4:c.5C>T p.Pro2Leu p.P2L ENST00000343115 NM_001260494.1 2 cCg/cTg 0 -RELN UCSF GRCh37 7 103230049 103230049 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 29 176 0 ENST00000428762.1:c.4139C>T p.Ala1380Val p.A1380V ENST00000428762 NM_005045.3 1380 gCa/gTa 0 -REPIN1 UCSF GRCh37 7 150068904 150068904 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 224 26 186 0 ENST00000397281.2:c.574C>T p.Leu192= p.L192= ENST00000397281 NM_013400.3 192 Cta/Tta 0 -RERE UCSF GRCh37 1 8422742 8422742 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 27 349 0 ENST00000337907.3:c.1902+1G>A p.X634_splice ENST00000337907 NM_012102.3 0 -RET UCSF GRCh37 10 43608383 43608383 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 6 76 0 ENST00000355710.3:c.1731C>T p.Asp577= p.D577= ENST00000355710 NM_020975.4 577 gaC/gaT 0 -RET UCSF GRCh37 10 43610025 43610025 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 426 63 627 0 ENST00000355710.3:c.1977C>T p.Cys659= p.C659= ENST00000355710 NM_020975.4 659 tgC/tgT 0 -REV3L UCSF GRCh37 6 111737541 111737541 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 16 199 0 ENST00000358835.3:c.274G>A p.Gly92Ser p.G92S ENST00000358835 92 Ggc/Agc 0 -RFC4 UCSF GRCh37 3 186512468 186512468 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 16 131 0 ENST00000296273.2:c.389C>T p.Thr130Ile p.T130I ENST00000296273 NM_002916.3 130 aCt/aTt 0 -RFNG UCSF GRCh37 17 80009379 80009379 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 3 29 0 ENST00000310496.4:c.264G>A p.Gln88= p.Q88= ENST00000310496 NM_002917.1 88 caG/caA 0 -RFTN2 UCSF GRCh37 2 198436747 198436747 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 542 78 743 0 ENST00000295049.4:c.1491G>A p.Gln497= p.Q497= ENST00000295049 NM_144629.2 497 caG/caA 0 -RFX6 UCSF GRCh37 6 117199071 117199071 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 7 72 0 ENST00000332958.2:c.336G>A p.Gln112= p.Q112= ENST00000332958 NM_173560.3 112 caG/caA 0 -RFX7 UCSF GRCh37 15 56435004 56435004 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 16 140 0 ENST00000559447.2:c.82C>T p.Pro28Ser p.P28S ENST00000559447 28 Ccc/Tcc 0 -RGS18 UCSF GRCh37 1 192153595 192153595 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 81 324 0 ENST00000367460.3:c.619C>T p.Gln207Ter p.Q207* ENST00000367460 NM_130782.2 207 Cag/Tag 0 -RHAG UCSF GRCh37 6 49587023 49587023 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 3 33 0 ENST00000371175.4:c.210C>T p.Thr70= p.T70= ENST00000371175 NM_000324.2 70 acC/acT 0 -RHOT2 UCSF GRCh37 16 718393 718393 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 71 203 0 ENST00000315082.4:c.78C>T p.Gly26= p.G26= ENST00000315082 NM_138769.2 26 ggC/ggT 0 -RHOXF1 UCSF GRCh37 X 119249374 119249374 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 13 83 0 ENST00000217999.2:c.398+1G>A p.X133_splice ENST00000217999 NM_139282.2 0 -RHPN1 UCSF GRCh37 8 144460959 144460959 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 139 356 0 ENST00000289013.6:c.553C>T p.Pro185Ser p.P185S ENST00000289013 NM_052924.2 185 Cct/Tct 0 -RICTOR UCSF GRCh37 5 38957753 38957753 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 190 35 322 0 ENST00000357387.3:c.2499+1G>A p.X833_splice ENST00000357387 NM_152756.3 0 -RICTOR UCSF GRCh37 5 38952427 38952427 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 281 41 397 0 ENST00000357387.3:c.2998C>T p.Leu1000= p.L1000= ENST00000357387 NM_152756.3 1000 Ctg/Ttg 0 -RIMBP2 UCSF GRCh37 12 130963546 130963546 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 7 64 0 ENST00000261655.4:c.13G>A p.Ala5Thr p.A5T ENST00000261655 NM_015347.4 5 Gct/Act 0 -RLF UCSF GRCh37 1 40661304 40661304 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 14 67 0 ENST00000372771.4:c.475G>A p.Glu159Lys p.E159K ENST00000372771 NM_012421.3 159 Gag/Aag 0 -RMI1 UCSF GRCh37 9 86617385 86617385 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 293 55 430 1 ENST00000325875.3:c.1484C>T p.Ser495Phe p.S495F ENST00000325875 NM_024945.2 495 tCt/tTt 0 -RMT-ND1 UCSF GRCh37 12 49254849 49254849 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 10 72 0 ENST00000309739.5:c.384C>T p.Asp128= p.D128= ENST00000309739 NM_014470.3 128 gaC/gaT 0 -RNF126 UCSF GRCh37 19 650255 650255 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 13 25 0 ENST00000292363.5:c.485C>T p.Thr162Ile p.T162I ENST00000292363 NM_194460.2 162 aCc/aTc 0 -RNF144A UCSF GRCh37 2 7164616 7164616 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 23 192 0 ENST00000320892.6:c.626C>T p.Ala209Val p.A209V ENST00000320892 NM_014746.3 209 gCc/gTc 0 -RNF146 UCSF GRCh37 6 127608726 127608726 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 36 268 0 ENST00000368314.1:c.968C>T p.Pro323Leu p.P323L ENST00000368314 NM_001242850.1 323 cCc/cTc 0 -RNF17 UCSF GRCh37 13 25418078 25418078 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 16 259 0 ENST00000255324.5:c.2800C>T p.Gln934Ter p.Q934* ENST00000255324 NM_031277.2 934 Cag/Tag 0 -RNF182 UCSF GRCh37 6 13977943 13977943 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 72 256 0 ENST00000488300.1:c.593C>T p.Pro198Leu p.P198L ENST00000488300 NM_152737.3 198 cCc/cTc 0 -RNF2 UCSF GRCh37 1 185067214 185067214 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 10 86 0 ENST00000367510.3:c.475G>A p.Gly159Ser p.G159S ENST00000367510 NM_007212.3 159 Ggc/Agc 0 -RNF213 UCSF GRCh37 17 78343302 78343302 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 6 64 0 ENST00000582970.1:c.12156G>A p.Arg4052= p.R4052= ENST00000582970 NM_001256071.1 4052 agG/agA 0 -RNF34 UCSF GRCh37 12 121858387 121858387 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 11 67 0 ENST00000361234.5:c.734G>A p.Gly245Glu p.G245E ENST00000361234 NM_025126.3 245 gGg/gAg 0 -RNF44 UCSF GRCh37 5 175958506 175958506 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 4 45 0 ENST00000274811.4:c.423G>A p.Met141Ile p.M141I ENST00000274811 NM_014901.4 141 atG/atA 0 -RNH1 UCSF GRCh37 11 498538 498538 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 21 161 0 ENST00000354420.2:c.875C>T p.Ala292Val p.A292V ENST00000354420 NM_203387.2 292 gCc/gTc 0 -RORA UCSF GRCh37 15 61521328 61521328 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 11 96 0 ENST00000335670.6:c.90G>A p.Pro30= p.P30= ENST00000335670 NM_134261.2 30 ccG/ccA 0 -RPAP1 UCSF GRCh37 15 41816446 41816446 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 7 61 0 ENST00000304330.4:c.2082C>T p.Leu694= p.L694= ENST00000304330 NM_015540.2 694 ctC/ctT 0 -RPL5 UCSF GRCh37 1 93299127 93299127 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 16 99 0 ENST00000370321.3:c.99G>A p.Arg33= p.R33= ENST00000370321 NM_000969.3 33 cgG/cgA 0 -RPL7 UCSF GRCh37 8 74204015 74204015 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 25 235 0 ENST00000352983.2:c.421G>A p.Ala141Thr p.A141T ENST00000352983 141 Gca/Aca 0 -RPP25 UCSF GRCh37 15 75248864 75248864 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 72 184 0 ENST00000322177.5:c.61G>A p.Gly21Ser p.G21S ENST00000322177 NM_017793.2 21 Ggc/Agc 0 -RPRD2 UCSF GRCh37 1 150443190 150443190 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 19 256 0 ENST00000369068.4:c.1766G>A p.Ser589Asn p.S589N ENST00000369068 NM_015203.3 589 aGc/aAc 0 -RPS23 UCSF GRCh37 5 81573621 81573621 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 242 45 335 0 ENST00000296674.8:c.55G>A p.Asp19Asn p.D19N ENST00000296674 NM_001025.4 19 Gac/Aac 0 -RPS6KA2 UCSF GRCh37 6 167275595 167275595 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 7 97 0 ENST00000503859.1:c.63+1G>A p.X21_splice ENST00000503859 NM_001006932.1 0 -RPS6KA4 UCSF GRCh37 11 64135622 64135622 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 194 30 293 0 ENST00000334205.4:c.1090C>T p.Pro364Ser p.P364S ENST00000334205 NM_003942.2 364 Ccc/Tcc 0 -RPS6KA5 UCSF GRCh37 14 91389456 91389456 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 195 24 274 0 ENST00000261991.3:c.702+1G>A p.X234_splice ENST00000261991 NM_004755.2 0 -RPS6KL1 UCSF GRCh37 14 75374226 75374226 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 26 198 0 ENST00000354625.2:c.1358C>T p.Ser453Phe p.S453F ENST00000354625 453 tCc/tTc 0 -RPTN UCSF GRCh37 1 152127274 152127274 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 762 127 903 0 ENST00000316073.3:c.2301C>T p.Asn767= p.N767= ENST00000316073 NM_001122965.1 767 aaC/aaT 0 -RPTOR UCSF GRCh37 17 78765296 78765296 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 10 123 0 ENST00000306801.3:c.877G>A p.Asp293Asn p.D293N ENST00000306801 NM_020761.2 293 Gat/Aat 0 -RPUSD2 UCSF GRCh37 15 40861556 40861556 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 10 77 0 ENST00000315616.7:c.20G>A p.Gly7Glu p.G7E ENST00000315616 NM_152260.1 7 gGa/gAa 0 -RRAGA UCSF GRCh37 9 19049980 19049980 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 22 230 0 ENST00000380527.1:c.323C>T p.Ser108Leu p.S108L ENST00000380527 NM_006570.4 108 tCg/tTg 0 -RREB1 UCSF GRCh37 6 7231216 7231216 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 17 137 0 ENST00000349384.6:c.2884G>A p.Glu962Lys p.E962K ENST00000349384 NM_001003698.3 962 Gag/Aag 0 -RREB1 UCSF GRCh37 6 7231282 7231282 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 14 104 0 ENST00000349384.6:c.2950G>A p.Gly984Arg p.G984R ENST00000349384 NM_001003698.3 984 Ggg/Agg 0 -RRN3 UCSF GRCh37 16 15166849 15166849 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 10 118 0 ENST00000198767.6:c.1086C>T p.Cys362= p.C362= ENST00000198767 NM_018427.3 362 tgC/tgT 0 -RRP1 UCSF GRCh37 21 45217919 45217919 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 7 43 0 ENST00000497547.1:c.749C>T p.Ser250Phe p.S250F ENST00000497547 NM_003683.5 250 tCc/tTc 0 -RRP9 UCSF GRCh37 3 51968521 51968521 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 21 153 0 ENST00000232888.6:c.1227C>T p.Phe409= p.F409= ENST00000232888 NM_004704.4 409 ttC/ttT 0 -RSAD1 UCSF GRCh37 17 48557042 48557042 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 9 67 0 ENST00000258955.2:c.188C>T p.Pro63Leu p.P63L ENST00000258955 NM_018346.1 63 cCt/cTt 0 -RSF1 UCSF GRCh37 11 77394779 77394779 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 226 43 373 0 ENST00000308488.6:c.3041G>A p.Arg1014Lys p.R1014K ENST00000308488 1014 aGa/aAa 0 -RSPH4A UCSF GRCh37 6 116937853 116937853 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 43 135 0 ENST00000229554.5:c.67C>T p.Pro23Ser p.P23S ENST00000229554 NM_001010892.2 23 Cca/Tca 0 -RSPH6A UCSF GRCh37 19 46305384 46305384 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 258 38 398 0 ENST00000221538.3:c.1792G>A p.Asp598Asn p.D598N ENST00000221538 NM_030785.3 598 Gat/Aat 0 -RTCD1 UCSF GRCh37 1 100732140 100732140 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 17 143 0 ENST00000370128.4:c.106G>A p.Val36Met p.V36M ENST00000370128 NM_003729.3 36 Gtg/Atg 0 -RTEL1 UCSF GRCh37 20 62292650 62292650 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 5 30 0 ENST00000370018.3:c.103-1G>A p.X35_splice ENST00000370018 NM_032957.4 0 -RTTN UCSF GRCh37 18 67857947 67857947 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 11 173 0 ENST00000255674.6:c.1016G>A p.Ser339Asn p.S339N ENST00000255674 NM_173630.3 339 aGt/aAt 0 -RUNDC1 UCSF GRCh37 17 41143722 41143722 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 200 28 290 0 ENST00000361677.1:c.1831G>A p.Asp611Asn p.D611N ENST00000361677 NM_173079.2 611 Gat/Aat 0 -RUNDC3A UCSF GRCh37 17 42386308 42386308 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 6 52 0 ENST00000426726.3:c.107+1G>A p.X36_splice ENST00000426726 NM_001144825.1 0 -RUSC2 UCSF GRCh37 9 35555506 35555506 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 55 165 0 ENST00000361226.3:c.2464C>T p.Pro822Ser p.P822S ENST00000361226 NM_014806.2 822 Cct/Tct 0 -RXFP1 UCSF GRCh37 4 159554622 159554622 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 8 160 0 ENST00000307765.5:c.965C>T p.Ser322Leu p.S322L ENST00000307765 NM_001253728.1 322 tCa/tTa 0 -RXRA UCSF GRCh37 9 137320968 137320968 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 184 33 284 0 ENST00000481739.1:c.925C>T p.Leu309Phe p.L309F ENST00000481739 NM_002957.4 309 Ctc/Ttc 0 -RXRA UCSF GRCh37 9 137321053 137321053 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 60 159 0 ENST00000481739.1:c.1010C>T p.Ala337Val p.A337V ENST00000481739 NM_002957.4 337 gCc/gTc 0 -RYBP UCSF GRCh37 3 72427537 72427537 + stop_retained_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 16 211 0 ENST00000477973.2:c.951G>A p.Ter318= p.*318= ENST00000477973 NM_012234.5 318 tGa/tAa 0 -RYR1 UCSF GRCh37 19 38931413 38931413 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 5 47 0 ENST00000359596.3:c.74C>T p.Ala25Val p.A25V ENST00000359596 25 gCt/gTt 0 -RYR1 UCSF GRCh37 19 38985127 38985127 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 14 91 0 ENST00000359596.3:c.6410C>T p.Ala2137Val p.A2137V ENST00000359596 2137 gCc/gTc 0 -RYR1 UCSF GRCh37 19 38993213 38993213 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 237 48 333 0 ENST00000359596.3:c.7681C>T p.Leu2561Phe p.L2561F ENST00000359596 2561 Ctc/Ttc 0 -RYR1 UCSF GRCh37 19 38985070 38985070 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 17 7 39 0 ENST00000359596.3:c.6353G>A p.Arg2118Gln p.R2118Q ENST00000359596 2118 cGg/cAg 0 -RYR1 UCSF GRCh37 19 38964070 38964070 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 10 111 0 ENST00000359596.3:c.3819C>T p.His1273= p.H1273= ENST00000359596 1273 caC/caT 0 -RYR3 UCSF GRCh37 15 34040384 34040384 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 3 58 0 ENST00000389232.4:c.8059G>A p.Glu2687Lys p.E2687K ENST00000389232 NM_001036.3 2687 Gag/Aag 0 -S100PBP UCSF GRCh37 1 33292420 33292420 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 22 122 0 ENST00000373475.5:c.720G>A p.Arg240= p.R240= ENST00000373475 NM_022753.3 240 cgG/cgA 0 -S1PR1 UCSF GRCh37 1 101705160 101705160 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 446 51 564 0 ENST00000305352.6:c.620C>T p.Thr207Ile p.T207I ENST00000305352 NM_001400.4 207 aCc/aTc 0 -S1PR1 UCSF GRCh37 1 101705464 101705464 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 282 53 366 0 ENST00000305352.6:c.924C>T p.Pro308= p.P308= ENST00000305352 NM_001400.4 308 ccC/ccT 0 -SAG UCSF GRCh37 2 234237205 234237205 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 16 148 0 ENST00000409110.1:c.594G>A p.Trp198Ter p.W198* ENST00000409110 NM_000541.4 198 tgG/tgA 0 -SAMD15 UCSF GRCh37 14 77844770 77844770 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 15 154 0 ENST00000216471.4:c.1009C>T p.Pro337Ser p.P337S ENST00000216471 NM_001010860.1 337 Cct/Tct 0 -SAMD9 UCSF GRCh37 7 92730948 92730948 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 293 53 505 0 ENST00000379958.2:c.4463G>A p.Arg1488Lys p.R1488K ENST00000379958 NM_017654.3 1488 aGa/aAa 0 -SARDH UCSF GRCh37 9 136577769 136577769 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 10 77 0 ENST00000371872.4:c.1300G>A p.Glu434Lys p.E434K ENST00000371872 NM_007101.3 434 Gag/Aag 0 -SARDH UCSF GRCh37 9 136568071 136568071 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 9 54 0 ENST00000371872.4:c.1635G>A p.Glu545= p.E545= ENST00000371872 NM_007101.3 545 gaG/gaA 0 -SARM1 UCSF GRCh37 17 26715552 26715552 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 12 66 0 ENST00000457710.3:c.1815G>A p.Val605= p.V605= ENST00000457710 NM_015077.3 605 gtG/gtA 0 -SARS UCSF GRCh37 1 109779146 109779146 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 7 80 0 ENST00000234677.2:c.1233G>A p.Gly411= p.G411= ENST00000234677 NM_006513.3 411 ggG/ggA 0 -SART3 UCSF GRCh37 12 108931935 108931935 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 15 156 0 ENST00000228284.3:c.1107C>T p.Asn369= p.N369= ENST00000228284 NM_014706.3 369 aaC/aaT 0 -SBF2 UCSF GRCh37 11 9812175 9812175 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 16 155 0 ENST00000256190.8:c.4626G>A p.Trp1542Ter p.W1542* ENST00000256190 NM_030962.3 1542 tgG/tgA 0 -SCAF1 UCSF GRCh37 19 50154164 50154164 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 123 63 208 0 ENST00000360565.3:c.518G>A p.Arg173His p.R173H ENST00000360565 NM_021228.2 173 cGt/cAt 0 -SCAF1 UCSF GRCh37 19 50158012 50158012 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 239 34 370 0 ENST00000360565.3:c.3503G>A p.Gly1168Asp p.G1168D ENST00000360565 NM_021228.2 1168 gGc/gAc 0 -SCAF1 UCSF GRCh37 19 50157655 50157655 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 11 114 0 ENST00000360565.3:c.3366G>A p.Ala1122= p.A1122= ENST00000360565 NM_021228.2 1122 gcG/gcA 0 -SCAMT-ND3 UCSF GRCh37 6 28542726 28542726 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 16 213 0 ENST00000452236.2:c.1756C>T p.Pro586Ser p.P586S ENST00000452236 NM_052923.1 586 Cct/Tct 0 -SCIN UCSF GRCh37 7 12617790 12617790 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 12 105 0 ENST00000297029.5:c.301G>A p.Gly101Arg p.G101R ENST00000297029 NM_001112706.2 101 Gga/Aga 0 -SCN10A UCSF GRCh37 3 38783835 38783835 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 9 92 0 ENST00000449082.2:c.2053G>A p.Glu685Lys p.E685K ENST00000449082 NM_006514.2 685 Gag/Aag 0 -SCN1A UCSF GRCh37 2 166930062 166930062 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 32 270 0 ENST00000303395.4:c.70G>A p.Ala24Thr p.A24T ENST00000303395 24 Gct/Act 0 -SCN2A UCSF GRCh37 2 166152547 166152547 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 12 86 0 ENST00000283256.6:c.214G>A p.Glu72Lys p.E72K ENST00000283256 NM_021007.2 72 Gag/Aag 0 -SCN5A UCSF GRCh37 3 38592472 38592472 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 87 255 0 ENST00000333535.4:c.5391C>T p.Ile1797= p.I1797= ENST00000333535 1797 atC/atT 0 -SCNN1B UCSF GRCh37 16 23364211 23364211 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 252 35 376 0 ENST00000343070.2:c.401C>T p.Ala134Val p.A134V ENST00000343070 NM_000336.2 134 gCc/gTc 0 -SCNN1D UCSF GRCh37 1 1226800 1226800 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 26 71 0 ENST00000338555.2:c.1727G>A p.Ser576Asn p.S576N ENST00000338555 576 aGc/aAc 0 -SCNN1G UCSF GRCh37 16 23226446 23226446 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 36 109 0 ENST00000300061.2:c.1606G>A p.Gly536Ser p.G536S ENST00000300061 NM_001039.3 536 Ggc/Agc 0 -SCP2 UCSF GRCh37 1 53446172 53446172 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 27 254 0 ENST00000371514.3:c.930C>T p.Thr310= p.T310= ENST00000371514 NM_002979.4 310 acC/acT 0 -SCRN1 UCSF GRCh37 7 29983761 29983761 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 239 30 227 0 ENST00000242059.5:c.376G>A p.Ala126Thr p.A126T ENST00000242059 NM_001145515.1 126 Gcc/Acc 0 -SCYL1 UCSF GRCh37 11 65293787 65293787 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 4 19 0 ENST00000270176.5:c.568G>A p.Ala190Thr p.A190T ENST00000270176 NM_020680.3 190 Gct/Act 0 -SDCCAG3 UCSF GRCh37 9 139301920 139301920 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 4 33 0 ENST00000357365.3:c.496G>A p.Asp166Asn p.D166N ENST00000357365 NM_001039707.1 166 Gat/Aat 0 -SDF2L1 UCSF GRCh37 22 21997337 21997337 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 10 31 0 ENST00000248958.4:c.374C>T p.Ser125Phe p.S125F ENST00000248958 NM_022044.2 125 tCc/tTc 0 -SDK1 UCSF GRCh37 7 4249791 4249791 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 14 96 0 ENST00000404826.2:c.5536C>T p.Gln1846Ter p.Q1846* ENST00000404826 NM_152744.3 1846 Caa/Taa 0 -SEC14L1 UCSF GRCh37 17 75202374 75202374 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 4 22 0 ENST00000430767.4:c.1233G>A p.Val411= p.V411= ENST00000430767 NM_001204410.1 411 gtG/gtA 0 -SEC16B UCSF GRCh37 1 177901632 177901632 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 4 16 0 ENST00000308284.6:c.3005G>A p.Gly1002Glu p.G1002E ENST00000308284 NM_033127.2 1002 gGa/gAa 0 -SEC31B UCSF GRCh37 10 102266174 102266174 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 39 172 0 ENST00000370345.3:c.786G>A p.Gly262= p.G262= ENST00000370345 NM_015490.3 262 ggG/ggA 0 -SEC61A1 UCSF GRCh37 3 127785845 127785845 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 281 43 433 0 ENST00000243253.3:c.826T>C p.Tyr276His p.Y276H ENST00000243253 NM_013336.3 276 Tac/Cac 0 -SEC63 UCSF GRCh37 6 108243022 108243022 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 236 43 332 0 ENST00000369002.4:c.431G>A p.Arg144Lys p.R144K ENST00000369002 NM_007214.4 144 aGg/aAg 0 -SEC63 UCSF GRCh37 6 108215043 108215043 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 187 30 395 0 ENST00000369002.4:c.1499G>A p.Gly500Glu p.G500E ENST00000369002 NM_007214.4 500 gGg/gAg 0 -SECISBP2L UCSF GRCh37 15 49311736 49311736 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 8 79 0 ENST00000559471.1:c.1049G>A p.Cys350Tyr p.C350Y ENST00000559471 NM_001193489.1 350 tGc/tAc 0 -SEL1L UCSF GRCh37 14 81993227 81993227 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 35 261 0 ENST00000336735.4:c.190G>A p.Glu64Lys p.E64K ENST00000336735 NM_005065.5 64 Gaa/Aaa 0 -SEL1L2 UCSF GRCh37 20 13867010 13867010 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 16 192 0 ENST00000284951.5:c.824C>T p.Ser275Phe p.S275F ENST00000284951 275 tCt/tTt 0 -SELENBP1 UCSF GRCh37 1 151341631 151341631 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 8 38 0 ENST00000368868.5:c.209A>G p.Asp70Gly p.D70G ENST00000368868 NM_003944.3 70 gAc/gGc 0 -SELT UCSF GRCh37 3 150321233 150321233 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 7 71 0 ENST00000471696.1:c.84C>T p.Ser28= p.S28= ENST00000471696 NM_016275.3 28 agC/agT 0 -SEMA3E UCSF GRCh37 7 83036460 83036460 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 13 147 0 ENST00000307792.3:c.766G>A p.Glu256Lys p.E256K ENST00000307792 NM_012431.2 256 Gaa/Aaa 0 -SEMA3F UCSF GRCh37 3 50220407 50220407 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 18 150 0 ENST00000002829.3:c.974C>T p.Ser325Phe p.S325F ENST00000002829 NM_004186.3 325 tCt/tTt 0 -SEMA4C UCSF GRCh37 2 97530011 97530011 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 10 80 0 ENST00000305476.5:c.1071C>T p.Arg357= p.R357= ENST00000305476 NM_017789.4 357 cgC/cgT 0 -SEMA4D UCSF GRCh37 9 91994525 91994525 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 11 138 0 ENST00000356444.2:c.1683C>T p.Tyr561= p.Y561= ENST00000356444 561 taC/taT 0 -SEMA5B UCSF GRCh37 3 122631167 122631167 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 13 90 0 ENST00000357599.3:c.2748G>A p.Trp916Ter p.W916* ENST00000357599 NM_001256348.1 916 tgG/tgA 0 -SEMA6A UCSF GRCh37 5 115782924 115782924 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 20 192 0 ENST00000343348.6:c.2478G>A p.Gln826= p.Q826= ENST00000343348 NM_020796.3 826 caG/caA 0 -SENP7 UCSF GRCh37 3 101066866 101066866 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 45 189 0 ENST00000394095.2:c.1687G>A p.Asp563Asn p.D563N ENST00000394095 NM_020654.3 563 Gat/Aat 0 -SENP7 UCSF GRCh37 3 101049182 101049182 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 207 35 379 0 ENST00000394095.2:c.2747C>T p.Ser916Phe p.S916F ENST00000394095 NM_020654.3 916 tCc/tTc 0 -SEPT9 UCSF GRCh37 17 75488714 75488714 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 41 144 0 ENST00000427177.1:c.1392C>T p.Asp464= p.D464= ENST00000427177 NM_001113491.1 464 gaC/gaT 0 -SERPINA10 UCSF GRCh37 14 94752585 94752585 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 174 29 255 0 ENST00000261994.4:c.1003G>A p.Val335Ile p.V335I ENST00000261994 NM_001100607.2 335 Gtt/Att 0 -SERPINA11 UCSF GRCh37 14 94914700 94914700 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 15 183 0 ENST00000334708.3:c.412G>A p.Gly138Arg p.G138R ENST00000334708 NM_001080451.1 138 Gga/Aga 0 -SERPINA11 UCSF GRCh37 14 94914822 94914822 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 15 143 0 ENST00000334708.3:c.290C>T p.Ala97Val p.A97V ENST00000334708 NM_001080451.1 97 gCt/gTt 0 -SERPINF2 UCSF GRCh37 17 1649012 1649012 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 8 78 0 ENST00000324015.3:c.176G>A p.Gly59Asp p.G59D ENST00000324015 NM_000934.3 59 gGc/gAc 0 -SERTAD1 UCSF GRCh37 19 40929053 40929053 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 16 106 0 ENST00000357949.4:c.401C>T p.Pro134Leu p.P134L ENST00000357949 NM_013376.3 134 cCc/cTc 0 -SERTAD2 UCSF GRCh37 2 64863823 64863823 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 10 121 1 ENST00000313349.3:c.183G>A p.Lys61= p.K61= ENST00000313349 NM_014755.2 61 aaG/aaA 0 -SESN3 UCSF GRCh37 11 94910922 94910922 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 8 154 0 ENST00000536441.1:c.1208G>A p.Arg403Lys p.R403K ENST00000536441 NM_144665.3 403 aGa/aAa 0 -SETBP1 UCSF GRCh37 18 42530356 42530356 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 317 55 437 0 ENST00000282030.5:c.1051G>A p.Asp351Asn p.D351N ENST00000282030 NM_015559.2 351 Gac/Aac 0 -SETD8 UCSF GRCh37 12 123880969 123880969 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 14 110 0 ENST00000402868.3:c.587C>T p.Ala196Val p.A196V ENST00000402868 196 gCc/gTc 0 -SETDB2 UCSF GRCh37 13 50050655 50050655 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 7 109 0 ENST00000354234.4:c.349G>A p.Val117Ile p.V117I ENST00000354234 NM_001160308.1 117 Gta/Ata 0 -SETX UCSF GRCh37 9 135140211 135140211 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 22 206 0 ENST00000224140.5:c.7449G>A p.Gly2483= p.G2483= ENST00000224140 NM_015046.5 2483 ggG/ggA 0 -SEZ6L2 UCSF GRCh37 16 29899902 29899902 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 16 106 0 ENST00000308713.5:c.998G>A p.Gly333Asp p.G333D ENST00000308713 NM_001114099.2 333 gGc/gAc 0 -SF3A1 UCSF GRCh37 22 30749022 30749022 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 16 145 0 ENST00000215793.8:c.103C>T p.Pro35Ser p.P35S ENST00000215793 NM_005877.4 35 Cct/Tct 0 -SF3B2 UCSF GRCh37 11 65825560 65825560 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 5 57 0 ENST00000322535.6:c.813G>A p.Gln271= p.Q271= ENST00000322535 NM_006842.2 271 caG/caA 0 -SFI1 UCSF GRCh37 22 31946261 31946261 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 10 73 0 ENST00000400288.2:c.471G>A p.Met157Ile p.M157I ENST00000400288 NM_001007467.2 157 atG/atA 0 -SFI1 UCSF GRCh37 22 32000897 32000897 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 14 32 0 ENST00000400288.2:c.2020G>A p.Ala674Thr p.A674T ENST00000400288 NM_001007467.2 674 Gcc/Acc 0 -SFI1 UCSF GRCh37 22 31974436 31974436 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 7 51 0 ENST00000400288.2:c.1153C>T p.Leu385= p.L385= ENST00000400288 NM_001007467.2 385 Ctg/Ttg 0 -SFMBT1 UCSF GRCh37 3 52955848 52955848 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 16 143 0 ENST00000394752.3:c.1132-1G>A p.X378_splice ENST00000394752 NM_016329.3 0 -SFSWAP UCSF GRCh37 12 132195854 132195854 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 21 152 0 ENST00000261674.4:c.80G>A p.Gly27Asp p.G27D ENST00000261674 NM_004592.3 27 gGc/gAc 0 -SFTPB UCSF GRCh37 2 85895263 85895263 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 8 25 0 ENST00000393822.3:c.80C>T p.Pro27Leu p.P27L ENST00000393822 27 cCc/cTc 0 -SFTPB UCSF GRCh37 2 85894253 85894253 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 9 110 0 ENST00000393822.3:c.279G>A p.Lys93= p.K93= ENST00000393822 93 aaG/aaA 0 -SGCG UCSF GRCh37 13 23777883 23777883 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 11 116 0 ENST00000218867.3:c.50G>A p.Arg17Lys p.R17K ENST00000218867 NM_000231.2 17 aGg/aAg 0 -PRAG1 UCSF GRCh37 8 8185591 8185591 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 20 107 0 ENST00000520004.1:c.2701G>A p.Gly901Ser p.G901S ENST00000520004 901 Ggc/Agc 0 -SGSM2 UCSF GRCh37 17 2275523 2275523 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 16 83 0 ENST00000426855.2:c.1482G>A p.Gln494= p.Q494= ENST00000426855 NM_001098509.1 494 caG/caA 0 -SGSM2 UCSF GRCh37 17 2276363 2276363 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 12 95 0 ENST00000426855.2:c.1770G>A p.Lys590= p.K590= ENST00000426855 NM_001098509.1 590 aaG/aaA 0 -SH2B1 UCSF GRCh37 16 28880534 28880534 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 84 248 0 ENST00000322610.8:c.1139G>A p.Cys380Tyr p.C380Y ENST00000322610 380 tGc/tAc 0 -SH2D1B UCSF GRCh37 1 162368778 162368778 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 24 198 0 ENST00000367929.2:c.298C>T p.Pro100Ser p.P100S ENST00000367929 NM_053282.4 100 Cca/Tca 0 -SH2D7 UCSF GRCh37 15 78393664 78393664 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 16 156 0 ENST00000328828.5:c.1069G>A p.Glu357Lys p.E357K ENST00000328828 NM_001101404.1 357 Gaa/Aaa 0 -SH3BGR UCSF GRCh37 21 40883652 40883652 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 10 35 0 ENST00000333634.4:c.670G>A p.Glu224Lys p.E224K ENST00000333634 NM_007341.2 224 Gag/Aag 0 -SHANK1 UCSF GRCh37 19 51170655 51170655 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 13 111 0 ENST00000293441.1:c.4562C>T p.Pro1521Leu p.P1521L ENST00000293441 NM_016148.2 1521 cCc/cTc 0 -SHANK1 UCSF GRCh37 19 51165271 51165271 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 321 38 488 0 ENST00000293441.1:c.6437G>A p.Gly2146Asp p.G2146D ENST00000293441 NM_016148.2 2146 gGc/gAc 0 -SHANK3 UCSF GRCh37 22 51154125 51154125 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 14 187 0 ENST00000262795.3:c.2342G>A p.Gly781Asp p.G781D ENST00000262795 NM_033517.1 781 gGc/gAc 0 -SHMT2 UCSF GRCh37 12 57625625 57625625 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 712 152 252 0 ENST00000328923.3:c.441C>T p.Asn147= p.N147= ENST00000328923 NM_005412.5 147 aaC/aaT 0 -SHROOM2 UCSF GRCh37 X 9900536 9900536 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 15 60 0 ENST00000380913.3:c.3213G>A p.Glu1071= p.E1071= ENST00000380913 NM_001649.2 1071 gaG/gaA 0 -SIGIRR UCSF GRCh37 11 406357 406357 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 15 124 0 ENST00000332725.3:c.1061G>A p.Gly354Asp p.G354D ENST00000332725 NM_001135053.1 354 gGc/gAc 0 -SIGLEC1 UCSF GRCh37 20 3670327 3670327 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 13 108 0 ENST00000344754.4:c.4917C>T p.Phe1639= p.F1639= ENST00000344754 NM_023068.3 1639 ttC/ttT 0 -SIGLEC1 UCSF GRCh37 20 3678704 3678704 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 12 54 0 ENST00000344754.4:c.1863C>T p.Leu621= p.L621= ENST00000344754 NM_023068.3 621 ctC/ctT 0 -SIGLEC10 UCSF GRCh37 19 51914392 51914392 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 207 44 364 0 ENST00000339313.5:c.2055G>A p.Lys685= p.K685= ENST00000339313 685 aaG/aaA 0 -SIK3 UCSF GRCh37 11 116741100 116741100 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 5 60 0 ENST00000292055.4:c.1581C>T p.Thr527= p.T527= ENST00000292055 NM_025164.3 527 acC/acT 0 -SIPA1L1 UCSF GRCh37 14 72055812 72055812 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 34 121 0 ENST00000555818.1:c.1223A>G p.Asn408Ser p.N408S ENST00000555818 NM_015556.1 408 aAt/aGt 0 -SIPA1L3 UCSF GRCh37 19 38643479 38643479 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 18 189 0 ENST00000222345.6:c.3534-1G>A p.X1178_splice ENST00000222345 NM_015073.1 0 -SIRT2 UCSF GRCh37 19 39384465 39384465 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 14 120 0 ENST00000249396.7:c.106G>A p.Ala36Thr p.A36T ENST00000249396 NM_012237.3 36 Gca/Aca 0 -SIRT6 UCSF GRCh37 19 4174726 4174726 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 8 48 0 ENST00000337491.2:c.956C>T p.Pro319Leu p.P319L ENST00000337491 NM_016539.2 319 cCc/cTc 0 -SIRT7 UCSF GRCh37 17 79870343 79870343 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 279 49 377 0 ENST00000328666.6:c.1152C>T p.Gly384= p.G384= ENST00000328666 NM_016538.2 384 ggC/ggT 0 -SIX5 UCSF GRCh37 19 46268871 46268871 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 23 237 0 ENST00000317578.6:c.2108G>A p.Gly703Glu p.G703E ENST00000317578 NM_175875.4 703 gGg/gAg 0 -SKI UCSF GRCh37 1 2160727 2160727 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 20 169 0 ENST00000378536.4:c.522C>T p.Cys174= p.C174= ENST00000378536 NM_003036.3 174 tgC/tgT 0 -SKI UCSF GRCh37 1 2235787 2235787 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 28 238 0 ENST00000378536.4:c.1530C>T p.Ala510= p.A510= ENST00000378536 NM_003036.3 510 gcC/gcT 0 -SKOR1 UCSF GRCh37 15 68121556 68121556 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 5 27 0 ENST00000380035.2:c.2356G>A p.Ala786Thr p.A786T ENST00000380035 786 Gcg/Acg 0 -SLC12A5 UCSF GRCh37 20 44669993 44669993 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 10 101 0 ENST00000454036.2:c.949C>T p.Leu317= p.L317= ENST00000454036 NM_001134771.1 317 Ctg/Ttg 0 -SLC12A8 UCSF GRCh37 3 124930185 124930185 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 16 165 0 ENST00000393469.4:c.9G>A p.Gln3= p.Q3= ENST00000393469 NM_001195483.1 3 caG/caA 0 -SLC13A3 UCSF GRCh37 20 45188771 45188771 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 12 62 0 ENST00000279027.4:c.1699G>A p.Ala567Thr p.A567T ENST00000279027 NM_001193342.1 567 Gca/Aca 0 -SLC14A2 UCSF GRCh37 18 43252921 43252921 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 371 61 548 0 ENST00000255226.6:c.2286G>A p.Trp762Ter p.W762* ENST00000255226 NM_007163.3 762 tgG/tgA 0 -SLC16A10 UCSF GRCh37 6 111409271 111409271 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 336 40 459 0 ENST00000368851.5:c.316G>A p.Asp106Asn p.D106N ENST00000368851 NM_018593.4 106 Gac/Aac 0 -SLC16A6 UCSF GRCh37 17 66267099 66267099 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 753 120 887 0 ENST00000327268.4:c.1202G>A p.Gly401Glu p.G401E ENST00000327268 NM_001174166.1 401 gGg/gAg 0 -SLC16A8 UCSF GRCh37 22 38477584 38477584 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 13 3 19 0 ENST00000320521.5:c.461C>T p.Pro154Leu p.P154L ENST00000320521 NM_013356.2 154 cCc/cTc 0 -SLC16A9 UCSF GRCh37 10 61413468 61413468 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 27 268 0 ENST00000395347.1:c.1316C>T p.Ala439Val p.A439V ENST00000395347 439 gCt/gTt 0 -SLC19A3 UCSF GRCh37 2 228564226 228564226 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 7 120 0 ENST00000258403.3:c.205C>T p.Pro69Ser p.P69S ENST00000258403 NM_025243.3 69 Cct/Tct 0 -SLC1A2 UCSF GRCh37 11 35338955 35338955 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 7 69 0 ENST00000278379.3:c.126G>A p.Gly42= p.G42= ENST00000278379 NM_004171.3 42 ggG/ggA 0 -SLC22A10 UCSF GRCh37 11 63065069 63065069 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 41 157 0 ENST00000332793.6:c.700G>A p.Val234Ile p.V234I ENST00000332793 NM_001039752.3 234 Gta/Ata 0 -SLC22A8 UCSF GRCh37 11 62762159 62762159 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 116 21 199 0 ENST00000336232.2:c.1071C>T p.Ile357= p.I357= ENST00000336232 NM_001184736.1 357 atC/atT 0 -SLC25A17 UCSF GRCh37 22 41173090 41173090 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 12 62 0 ENST00000435456.2:c.647C>T p.Ala216Val p.A216V ENST00000435456 NM_006358.2 216 gCc/gTc 0 -SLC25A18 UCSF GRCh37 22 18070052 18070052 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 6 38 0 ENST00000327451.6:c.560G>A p.Gly187Asp p.G187D ENST00000327451 NM_031481.1 187 gGt/gAt 0 -SLC25A25 UCSF GRCh37 9 130866028 130866028 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 11 78 0 ENST00000373064.5:c.555G>A p.Met185Ile p.M185I ENST00000373064 NM_052901.4 185 atG/atA 0 -SLC25A31 UCSF GRCh37 4 128665894 128665894 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 20 247 0 ENST00000281154.4:c.300C>T p.Asn100= p.N100= ENST00000281154 NM_031291.2 100 aaC/aaT 0 -SLC25A33 UCSF GRCh37 1 9613713 9613713 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 16 129 0 ENST00000302692.6:c.86C>T p.Thr29Ile p.T29I ENST00000302692 NM_032315.2 29 aCt/aTt 0 -SLC25A42 UCSF GRCh37 19 19221405 19221405 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 12 56 0 ENST00000318596.7:c.677C>T p.Pro226Leu p.P226L ENST00000318596 NM_178526.4 226 cCc/cTc 0 -SLC26A10P UCSF GRCh37 12 58015596 58015596 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 668 99 174 0 ENST00000320442.4:c.679C>T p.Pro227Ser p.P227S ENST00000320442 NM_133489.2 227 Ccc/Tcc 0 -SLC26A2 UCSF GRCh37 5 149357587 149357587 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 132 65 231 0 ENST00000286298.4:c.372C>T p.Pro124= p.P124= ENST00000286298 NM_000112.3 124 ccC/ccT 0 -SLC26A3 UCSF GRCh37 7 107415274 107415274 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 196 32 301 0 ENST00000340010.5:c.1721C>T p.Ala574Val p.A574V ENST00000340010 NM_000111.2 574 gCt/gTt 0 -SLC26A8 UCSF GRCh37 6 35923186 35923186 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 28 269 0 ENST00000355574.2:c.1975G>A p.Asp659Asn p.D659N ENST00000355574 NM_001193476.1 659 Gac/Aac 0 -SLC27A1 UCSF GRCh37 19 17615328 17615328 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 21 188 0 ENST00000252595.7:c.1848C>T p.Asp616= p.D616= ENST00000252595 NM_198580.1 616 gaC/gaT 0 -SLC27A3 UCSF GRCh37 1 153747976 153747976 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 24 213 0 ENST00000368661.3:c.144G>A p.Met48Ile p.M48I ENST00000368661 NM_024330.1 48 atG/atA 0 -SLC27A4 UCSF GRCh37 9 131105537 131105537 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 7 50 0 ENST00000300456.4:c.126C>T p.Ile42= p.I42= ENST00000300456 NM_005094.3 42 atC/atT 0 -SLC27A5 UCSF GRCh37 19 59010240 59010240 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 62 165 1 ENST00000263093.2:c.1808C>T p.Pro603Leu p.P603L ENST00000263093 NM_012254.2 603 cCc/cTc 0 -SLC2A13 UCSF GRCh37 12 40258622 40258622 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 134 17 237 0 ENST00000280871.4:c.1261C>T p.Arg421Cys p.R421C ENST00000280871 NM_052885.3 421 Cgc/Tgc 0 -SLC2A8 UCSF GRCh37 9 130165022 130165022 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 6 55 0 ENST00000373371.3:c.713G>A p.Gly238Glu p.G238E ENST00000373371 NM_014580.4 238 gGg/gAg 0 -SLC34A1 UCSF GRCh37 5 176823753 176823753 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 23 138 0 ENST00000324417.5:c.1194C>T p.Thr398= p.T398= ENST00000324417 NM_003052.4 398 acC/acT 0 -SLC35E1 UCSF GRCh37 19 16664598 16664598 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 266 31 269 0 ENST00000595753.1:c.1125C>T p.Pro375= p.P375= ENST00000595753 NM_024881.4 375 ccC/ccT 0 -SLC37A1 UCSF GRCh37 21 43967234 43967234 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 270 45 353 0 ENST00000352133.2:c.752C>T p.Ser251Phe p.S251F ENST00000352133 251 tCc/tTc 0 -SLC38A5 UCSF GRCh37 X 48324630 48324630 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 17 40 0 ENST00000376876.3:c.399G>A p.Leu133= p.L133= ENST00000376876 133 ctG/ctA 0 -SLC45A3 UCSF GRCh37 1 205631136 205631136 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 7 35 0 ENST00000367145.3:c.1077G>A p.Val359= p.V359= ENST00000367145 NM_033102.2 359 gtG/gtA 0 -SLC46A2 UCSF GRCh37 9 115649617 115649617 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 15 148 0 ENST00000374228.4:c.1206C>T p.Ser402= p.S402= ENST00000374228 NM_033051.3 402 tcC/tcT 0 -SLC4A11 UCSF GRCh37 20 3211578 3211578 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 22 173 0 ENST00000380056.3:c.1216+1G>A p.X406_splice ENST00000380056 NM_032034.3 0 -SLC4A3 UCSF GRCh37 2 220498145 220498145 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 5 72 0 ENST00000317151.3:c.1427C>T p.Ala476Val p.A476V ENST00000317151 476 gCc/gTc 0 -SLC4A3 UCSF GRCh37 2 220502411 220502411 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 268 47 392 0 ENST00000317151.3:c.2644G>A p.Gly882Ser p.G882S ENST00000317151 882 Ggc/Agc 0 -SLC4A4 UCSF GRCh37 4 72413408 72413408 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 16 186 0 ENST00000264485.5:c.2665C>T p.Leu889= p.L889= ENST00000264485 NM_001098484.2 889 Ctg/Ttg 0 -SLC5A12 UCSF GRCh37 11 26743097 26743097 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 174 27 195 0 ENST00000396005.3:c.165G>A p.Leu55= p.L55= ENST00000396005 NM_178498.3 55 ttG/ttA 0 -SLC5A4 UCSF GRCh37 22 32628991 32628991 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 13 68 0 ENST00000266086.4:c.916G>A p.Asp306Asn p.D306N ENST00000266086 NM_014227.2 306 Gac/Aac 0 -SLC6A11 UCSF GRCh37 3 10861192 10861192 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 23 241 0 ENST00000254488.2:c.299G>A p.Gly100Glu p.G100E ENST00000254488 NM_014229.1 100 gGa/gAa 0 -SLC6A19 UCSF GRCh37 5 1208922 1208922 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 51 0 ENST00000304460.10:c.264G>A p.Leu88= p.L88= ENST00000304460 NM_001003841.2 88 ctG/ctA 0 -SLC6A4 UCSF GRCh37 17 28542628 28542628 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 24 239 0 ENST00000261707.3:c.1076+1G>A p.X359_splice ENST00000261707 NM_001045.5 0 -SLC7A14 UCSF GRCh37 3 170198521 170198521 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 207 34 293 0 ENST00000231706.5:c.1550C>T p.Thr517Ile p.T517I ENST00000231706 NM_020949.2 517 aCc/aTc 0 -SLC9A3 UCSF GRCh37 5 482251 482251 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 11 97 0 ENST00000264938.3:c.1378G>A p.Val460Met p.V460M ENST00000264938 NM_004174.2 460 Gtg/Atg 0 -NHERF2 UCSF GRCh37 16 2086443 2086443 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 32 187 0 ENST00000424542.2:c.533C>T p.Ser178Phe p.S178F ENST00000424542 NM_001130012.2 178 tCt/tTt 0 -SLFN11 UCSF GRCh37 17 33689953 33689953 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 283 57 483 0 ENST00000308377.4:c.874C>T p.Pro292Ser p.P292S ENST00000308377 NM_152270.3 292 Ccg/Tcg 0 -SLITRK2 UCSF GRCh37 X 144905964 144905964 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 49 200 0 ENST00000370490.1:c.2021C>T p.Thr674Ile p.T674I ENST00000370490 674 aCt/aTt 0 -SLITRK3 UCSF GRCh37 3 164906241 164906241 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 27 266 0 ENST00000241274.3:c.2378G>A p.Gly793Glu p.G793E ENST00000241274 NM_014926.2 793 gGa/gAa 0 -SLMAP UCSF GRCh37 3 57843847 57843847 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 13 193 0 ENST00000428312.1:c.648G>A p.Arg216= p.R216= ENST00000428312 216 cgG/cgA 0 -SMAD9 UCSF GRCh37 13 37441475 37441475 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 9 90 0 ENST00000379826.4:c.716C>T p.Thr239Ile p.T239I ENST00000379826 NM_001127217.2 239 aCc/aTc 0 -SMARCA4 UCSF GRCh37 19 11132499 11132499 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 19 94 0 ENST00000344626.4:c.2715C>T p.Arg905= p.R905= ENST00000344626 NM_003072.3 905 cgC/cgT 0 -SMARCC2 UCSF GRCh37 12 56575805 56575805 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 21 188 0 ENST00000267064.4:c.691C>T p.Pro231Ser p.P231S ENST00000267064 NM_003075.3 231 Cct/Tct 0 -SMARCD2 UCSF GRCh37 17 61914339 61914339 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 100 20 145 0 ENST00000448276.2:c.510C>T p.Asp170= p.D170= ENST00000448276 NM_001098426.1 170 gaC/gaT 0 -SMCR7 UCSF GRCh37 17 18167100 18167100 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 8 42 0 ENST00000323019.4:c.387G>A p.Glu129= p.E129= ENST00000323019 NM_139162.3 129 gaG/gaA 0 -SMCR8 UCSF GRCh37 17 18221380 18221380 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 316 60 443 0 ENST00000406438.3:c.2277C>T p.Cys759= p.C759= ENST00000406438 NM_144775.2 759 tgC/tgT 0 -SMG6 UCSF GRCh37 17 1989101 1989101 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 22 95 0 ENST00000263073.6:c.3452G>A p.Gly1151Glu p.G1151E ENST00000263073 NM_017575.4 1151 gGa/gAa 0 -SMG8 UCSF GRCh37 17 57288108 57288108 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 500 77 697 1 ENST00000300917.5:c.696G>A p.Gly232= p.G232= ENST00000300917 NM_018149.6 232 ggG/ggA 0 -SMOC2 UCSF GRCh37 6 168949859 168949859 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 8 90 0 ENST00000356284.2:c.613C>T p.Gln205Ter p.Q205* ENST00000356284 NM_001166412.1 205 Cag/Tag 0 -SMTN UCSF GRCh37 22 31483980 31483980 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 9 93 0 ENST00000347557.2:c.81G>A p.Arg27= p.R27= ENST00000347557 NM_001207017.1 27 cgG/cgA 0 -SNAPC4 UCSF GRCh37 9 139277901 139277901 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 49 124 0 ENST00000298532.2:c.1720C>T p.Pro574Ser p.P574S ENST00000298532 NM_003086.2 574 Cct/Tct 0 -SNAPC4 UCSF GRCh37 9 139270934 139270934 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 14 59 0 ENST00000298532.2:c.4285-1G>A p.X1429_splice ENST00000298532 NM_003086.2 0 -SMT-ND1 UCSF GRCh37 7 127361376 127361376 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 52 168 0 ENST00000354725.3:c.1074G>A p.Val358= p.V358= ENST00000354725 NM_014390.2 358 gtG/gtA 0 -SNIP1 UCSF GRCh37 1 38006318 38006318 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 323 60 502 0 ENST00000296215.6:c.366G>A p.Arg122= p.R122= ENST00000296215 NM_024700.3 122 cgG/cgA 0 -SNRNP35 UCSF GRCh37 12 123950397 123950397 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 35 212 0 ENST00000350887.5:c.310G>A p.Ala104Thr p.A104T ENST00000350887 104 Gcc/Acc 0 -SNRNP70 UCSF GRCh37 19 49601749 49601749 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 11 58 0 ENST00000598441.1:c.330+1G>A p.X110_splice ENST00000598441 0 -SNTG2 UCSF GRCh37 2 1204830 1204830 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 9 121 0 ENST00000308624.5:c.633G>A p.Arg211= p.R211= ENST00000308624 NM_018968.3 211 agG/agA 0 -SNX16 UCSF GRCh37 8 82752050 82752050 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 24 273 0 ENST00000345957.4:c.172C>T p.Pro58Ser p.P58S ENST00000345957 NM_152836.2 58 Cct/Tct 0 -SNX27 UCSF GRCh37 1 151584906 151584906 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 19 118 0 ENST00000458013.2:c.229C>T p.Pro77Ser p.P77S ENST00000458013 77 Ccg/Tcg 0 -SNX29 UCSF GRCh37 16 12571605 12571605 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 20 124 0 ENST00000566228.1:c.2067G>A p.Trp689Ter p.W689* ENST00000566228 NM_032167.3 689 tgG/tgA 0 -SNX8 UCSF GRCh37 7 2314805 2314805 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 22 195 0 ENST00000222990.3:c.360C>T p.Leu120= p.L120= ENST00000222990 NM_013321.2 120 ctC/ctT 0 -SOBP UCSF GRCh37 6 107955882 107955882 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 16 124 0 ENST00000317357.5:c.1834C>T p.Pro612Ser p.P612S ENST00000317357 NM_018013.3 612 Ccc/Tcc 0 -SORBS1 UCSF GRCh37 10 97192287 97192287 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 6 103 0 ENST00000361941.3:c.219C>T p.Leu73= p.L73= ENST00000361941 NM_001034954.1 73 ctC/ctT 0 -SORBS3 UCSF GRCh37 8 22412459 22412459 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 8 47 0 ENST00000240123.7:c.186C>T p.Gly62= p.G62= ENST00000240123 NM_005775.4 62 ggC/ggT 0 -SORCS1 UCSF GRCh37 10 108366924 108366924 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 16 158 0 ENST00000263054.6:c.3165G>A p.Gln1055= p.Q1055= ENST00000263054 NM_001206570.1 1055 caG/caA 0 -SORL1 UCSF GRCh37 11 121498476 121498476 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 4 21 0 ENST00000260197.7:c.6577G>A p.Gly2193Arg p.G2193R ENST00000260197 NM_003105.5 2193 Ggg/Agg 0 -SOX11 UCSF GRCh37 2 5834108 5834108 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 30 184 0 ENST00000322002.3:c.1255C>T p.Pro419Ser p.P419S ENST00000322002 NM_003108.3 419 Ccg/Tcg 0 -SOX11 UCSF GRCh37 2 5833051 5833051 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 17 164 0 ENST00000322002.3:c.198G>A p.Lys66= p.K66= ENST00000322002 NM_003108.3 66 aaG/aaA 0 -SOX17 UCSF GRCh37 8 55370876 55370876 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 16 144 0 ENST00000297316.4:c.178G>A p.Gly60Ser p.G60S ENST00000297316 NM_022454.3 60 Ggc/Agc 0 -SOX4 UCSF GRCh37 6 21595585 21595585 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 6 71 0 ENST00000244745.1:c.820G>A p.Ala274Thr p.A274T ENST00000244745 NM_003107.2 274 Gca/Aca 0 -SP8 UCSF GRCh37 7 20824335 20824335 + missense_variant Missense_Mutation SNP G G C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 24 53 0 ENST00000361443.4:c.1047C>G p.Ser349Arg p.S349R ENST00000361443 NM_198956.2 349 agC/agG 0 -SPAG17 UCSF GRCh37 1 118539353 118539353 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 37 216 0 ENST00000336338.5:c.4790G>A p.Gly1597Asp p.G1597D ENST00000336338 NM_206996.2 1597 gGt/gAt 0 -SPAG17 UCSF GRCh37 1 118640307 118640307 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 210 40 317 0 ENST00000336338.5:c.997G>A p.Asp333Asn p.D333N ENST00000336338 NM_206996.2 333 Gat/Aat 0 -SPAM1 UCSF GRCh37 7 123593687 123593687 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 182 23 194 0 ENST00000223028.7:c.63C>T p.Ser21= p.S21= ENST00000223028 21 tcC/tcT 0 -SPATA13 UCSF GRCh37 13 24798455 24798455 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 18 113 0 ENST00000382095.4:c.-222-25160C>T *74* ENST00000382095 NM_153023.2 0 -SPATA21 UCSF GRCh37 1 16736310 16736310 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 28 174 0 ENST00000335496.1:c.373C>T p.Pro125Ser p.P125S ENST00000335496 NM_198546.1 125 Cca/Tca 0 -SPATA22 UCSF GRCh37 17 3346536 3346536 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 14 240 0 ENST00000397168.3:c.832C>T p.Pro278Ser p.P278S ENST00000397168 NM_032598.4 278 Cca/Tca 0 -AFG2A UCSF GRCh37 4 123844347 123844347 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 241 46 315 0 ENST00000274008.4:c.50G>A p.Gly17Asp p.G17D ENST00000274008 NM_145207.2 17 gGt/gAt 0 -SPATS2 UCSF GRCh37 12 49883272 49883272 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 73 277 0 ENST00000321898.6:c.130C>T p.Pro44Ser p.P44S ENST00000321898 44 Cct/Tct 0 -SPATS2 UCSF GRCh37 12 49919843 49919843 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 29 202 0 ENST00000321898.6:c.1443G>A p.Trp481Ter p.W481* ENST00000321898 481 tgG/tgA 0 -SPEG UCSF GRCh37 2 220353344 220353344 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 13 127 0 ENST00000312358.7:c.7983C>T p.Asn2661= p.N2661= ENST00000312358 NM_005876.4 2661 aaC/aaT 0 -SPINT3 UCSF GRCh37 20 44144178 44144178 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 92 292 0 ENST00000217428.6:c.71C>T p.Ala24Val p.A24V ENST00000217428 NM_006652.1 24 gCa/gTa 0 -SPNS1 UCSF GRCh37 16 28993752 28993752 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 24 127 0 ENST00000311008.11:c.1041C>T p.Leu347= p.L347= ENST00000311008 NM_032038.2 347 ctC/ctT 0 -SPOPL UCSF GRCh37 2 139308548 139308548 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 15 124 0 ENST00000280098.4:c.276C>T p.Ser92= p.S92= ENST00000280098 NM_001001664.2 92 agC/agT 0 -SPRYD4 UCSF GRCh37 12 56863083 56863083 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 28 172 0 ENST00000338146.5:c.346G>A p.Gly116Ser p.G116S ENST00000338146 NM_207344.3 116 Ggt/Agt 0 -SPSB4 UCSF GRCh37 3 140784965 140784965 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 6 30 0 ENST00000310546.2:c.19G>A p.Gly7Arg p.G7R ENST00000310546 NM_080862.1 7 Ggg/Agg 0 -SPTAN1 UCSF GRCh37 9 131388710 131388710 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 6 74 0 ENST00000372731.4:c.6305C>T p.Ala2102Val p.A2102V ENST00000372731 NM_003127.3 2102 gCc/gTc 0 -SPTB UCSF GRCh37 14 65216827 65216827 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 25 164 0 ENST00000389722.3:c.6648C>T p.Thr2216= p.T2216= ENST00000389722 NM_001024858.2 2216 acC/acT 0 -SPTBN1 UCSF GRCh37 2 54876290 54876290 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 6 17 0 ENST00000356805.4:c.5165G>A p.Gly1722Glu p.G1722E ENST00000356805 NM_003128.2 1722 gGg/gAg 0 -SPTBN2 UCSF GRCh37 11 66481114 66481114 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 17 187 0 ENST00000309996.2:c.760C>T p.Leu254= p.L254= ENST00000309996 NM_006946.2 254 Ctg/Ttg 0 -SPTBN2 UCSF GRCh37 11 66466553 66466553 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 363 58 456 0 ENST00000309996.2:c.3777G>A p.Arg1259= p.R1259= ENST00000309996 NM_006946.2 1259 agG/agA 0 -SPTBN4 UCSF GRCh37 19 41021267 41021267 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 6 28 0 ENST00000352632.3:c.2815G>A p.Asp939Asn p.D939N ENST00000352632 939 Gac/Aac 0 -SPTBN4 UCSF GRCh37 19 40993674 40993674 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 7 57 0 ENST00000352632.3:c.240C>T p.Cys80= p.C80= ENST00000352632 80 tgC/tgT 0 -SPTBN5 UCSF GRCh37 15 42144889 42144889 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 59 174 0 ENST00000320955.6:c.10392C>T p.Asp3464= p.D3464= ENST00000320955 NM_016642.3 3464 gaC/gaT 0 -SQSTM1 UCSF GRCh37 5 179250015 179250015 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 20 145 0 ENST00000389805.4:c.263C>T p.Ser88Phe p.S88F ENST00000389805 NM_003900.4 88 tCc/tTc 0 -SRCAP UCSF GRCh37 16 30715577 30715577 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 18 168 0 ENST00000262518.4:c.247G>A p.Ala83Thr p.A83T ENST00000262518 NM_006662.2 83 Gct/Act 0 -SREBF2 UCSF GRCh37 22 42280908 42280908 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 9 80 0 ENST00000361204.4:c.2101G>A p.Ala701Thr p.A701T ENST00000361204 NM_004599.3 701 Gct/Act 0 -SREBF2 UCSF GRCh37 22 42263059 42263059 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 417 70 556 0 ENST00000361204.4:c.313G>A p.Ala105Thr p.A105T ENST00000361204 NM_004599.3 105 Gcc/Acc 0 -SRGAP1 UCSF GRCh37 12 64536324 64536324 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 189 35 279 0 ENST00000355086.3:c.3130C>T p.Pro1044Ser p.P1044S ENST00000355086 NM_020762.2 1044 Ccc/Tcc 0 -SRGAP1 UCSF GRCh37 12 64410738 64410738 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 15 181 0 ENST00000355086.3:c.435G>A p.Glu145= p.E145= ENST00000355086 NM_020762.2 145 gaG/gaA 0 -SRM UCSF GRCh37 1 11116668 11116668 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 11 73 0 ENST00000376957.2:c.528C>T p.Asp176= p.D176= ENST00000376957 NM_003132.2 176 gaC/gaT 0 -SRRM2 UCSF GRCh37 16 2819002 2819002 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 84 216 0 ENST00000301740.8:c.7738C>T p.Pro2580Ser p.P2580S ENST00000301740 NM_016333.3 2580 Ccc/Tcc 0 -SRRM2 UCSF GRCh37 16 2806587 2806587 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 25 64 0 ENST00000301740.8:c.222G>A p.Glu74= p.E74= ENST00000301740 NM_016333.3 74 gaG/gaA 0 -SRRM3 UCSF GRCh37 7 75877587 75877587 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 6 26 0 ENST00000326382.8:c.315G>A p.Glu105= p.E105= ENST00000326382 NM_001110199.1 105 gaG/gaA 0 -SRRM5 UCSF GRCh37 19 44118416 44118416 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 20 146 0 ENST00000300811.3:c.41C>T p.Ala14Val p.A14V ENST00000300811 NM_182498.3 14 gCc/gTc 0 -SRY UCSF GRCh37 Y 2655091 2655091 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 17 113 0 ENST00000383070.1:c.554C>T p.Pro185Leu p.P185L ENST00000383070 NM_003140.2 185 cCc/cTc 0 -SSPN UCSF GRCh37 12 26348790 26348790 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 17 118 0 ENST00000242729.2:c.185C>T p.Ala62Val p.A62V ENST00000242729 NM_005086.4 62 gCc/gTc 0 -SSPO UCSF GRCh37 7 149488952 149488952 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 17 127 0 ENST00000378016.2:n.5293C>T *1765* ENST00000378016 0 -SSPO UCSF GRCh37 7 149479365 149479365 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 220 26 206 0 ENST00000378016.2:n.1878C>T *626* ENST00000378016 0 -SSTR1 UCSF GRCh37 14 38679367 38679367 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 62 205 0 ENST00000267377.2:c.773G>A p.Gly258Asp p.G258D ENST00000267377 NM_001049.2 258 gGc/gAc 0 -ST14 UCSF GRCh37 11 130068262 130068262 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 9 86 0 ENST00000278742.5:c.1519G>A p.Val507Ile p.V507I ENST00000278742 NM_021978.3 507 Gtc/Atc 0 -ST6GAL1 UCSF GRCh37 3 186760523 186760523 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 167 27 242 0 ENST00000169298.3:c.32G>A p.Ser11Asn p.S11N ENST00000169298 NM_173216.2 11 aGc/aAc 0 -ST6GALNAC1 UCSF GRCh37 17 74622111 74622111 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 18 104 0 ENST00000156626.7:c.1482C>T p.Asp494= p.D494= ENST00000156626 NM_018414.3 494 gaC/gaT 0 -STAB1 UCSF GRCh37 3 52554234 52554234 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 444 77 586 0 ENST00000321725.6:c.5427C>T p.Asp1809= p.D1809= ENST00000321725 NM_015136.2 1809 gaC/gaT 0 -STAG1 UCSF GRCh37 3 136068156 136068156 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 9 88 0 ENST00000383202.2:c.3115G>A p.Glu1039Lys p.E1039K ENST00000383202 NM_005862.2 1039 Gag/Aag 0 -STAG1 UCSF GRCh37 3 136136787 136136787 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 29 276 0 ENST00000383202.2:c.2136C>T p.Leu712= p.L712= ENST00000383202 NM_005862.2 712 ctC/ctT 0 -STARD7 UCSF GRCh37 2 96859011 96859011 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 214 34 361 0 ENST00000337288.5:c.629C>T p.Ser210Phe p.S210F ENST00000337288 NM_020151.3 210 tCc/tTc 0 -STAT5A UCSF GRCh37 17 40458446 40458446 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 4 22 0 ENST00000345506.4:c.1661C>T p.Ser554Phe p.S554F ENST00000345506 NM_003152.3 554 tCc/tTc 0 -STC2 UCSF GRCh37 5 172755116 172755116 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 79 289 0 ENST00000265087.4:c.81C>T p.Ala27= p.A27= ENST00000265087 NM_003714.2 27 gcC/gcT 0 -STIM2 UCSF GRCh37 4 27024410 27024410 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 369 67 566 0 ENST00000467087.1:c.2033C>T p.Ser678Phe p.S678F ENST00000467087 NM_020860.3 678 tCc/tTc 0 -STIM2 UCSF GRCh37 4 27004714 27004714 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 6 57 0 ENST00000467087.1:c.969G>A p.Gln323= p.Q323= ENST00000467087 NM_020860.3 323 caG/caA 0 -STK10 UCSF GRCh37 5 171510076 171510076 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 15 112 0 ENST00000176763.5:c.1698C>T p.Leu566= p.L566= ENST00000176763 NM_005990.3 566 ctC/ctT 0 -STK25 UCSF GRCh37 2 242441087 242441087 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0010 P24_Rec2 Untested WXS Illumina HiSeq 235 42 378 0 ENST00000316586.4:c.67C>T p.Leu23Phe p.L23F ENST00000316586 NM_001282308.1 23 Ctc/Ttc 0 -STK4 UCSF GRCh37 20 43615866 43615866 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 24 225 0 ENST00000372806.3:c.454G>A p.Ala152Thr p.A152T ENST00000372806 NM_006282.2 152 Gca/Aca 0 -STK4 UCSF GRCh37 20 43623731 43623731 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 18 131 0 ENST00000372806.3:c.526G>A p.Asp176Asn p.D176N ENST00000372806 NM_006282.2 176 Gat/Aat 0 -STON1 UCSF GRCh37 2 48807954 48807954 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 296 45 506 0 ENST00000309835.3:c.182C>T p.Pro61Leu p.P61L ENST00000309835 61 cCt/cTt 0 -STT3A UCSF GRCh37 11 125482999 125482999 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 182 23 265 0 ENST00000392708.4:c.1481G>A p.Gly494Asp p.G494D ENST00000392708 NM_001278503.1 494 gGt/gAt 0 -STX17 UCSF GRCh37 9 102713352 102713352 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 123 23 191 0 ENST00000259400.6:c.200C>T p.Ser67Phe p.S67F ENST00000259400 NM_017919.2 67 tCc/tTc 0 -STX18 UCSF GRCh37 4 4440217 4440217 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 84 209 0 ENST00000306200.2:c.517C>T p.Pro173Ser p.P173S ENST00000306200 NM_016930.2 173 Cca/Tca 0 -STXBP5 UCSF GRCh37 6 147680301 147680301 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 24 242 0 ENST00000321680.6:c.2387C>T p.Ala796Val p.A796V ENST00000321680 NM_001127715.2 796 gCt/gTt 0 -STXBP5L UCSF GRCh37 3 120973866 120973866 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 16 157 0 ENST00000273666.6:c.1566G>A p.Trp522Ter p.W522* ENST00000273666 NM_014980.2 522 tgG/tgA 0 -SUGP2 UCSF GRCh37 19 19115330 19115330 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 573 83 621 0 ENST00000337018.6:c.2576G>A p.Gly859Asp p.G859D ENST00000337018 NM_014884.3 859 gGt/gAt 0 -SULT1C2 UCSF GRCh37 2 108921630 108921630 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 7 59 0 ENST00000251481.6:c.505G>A p.Val169Ile p.V169I ENST00000251481 NM_001056.3 169 Gtt/Att 0 -SUOX UCSF GRCh37 12 56397638 56397638 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 195 118 354 0 ENST00000266971.3:c.465C>T p.Tyr155= p.Y155= ENST00000266971 NM_001032386.1 155 taC/taT 0 -SUPV3L1 UCSF GRCh37 10 70949174 70949174 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 8 86 0 ENST00000359655.4:c.724G>A p.Glu242Lys p.E242K ENST00000359655 NM_003171.3 242 Gaa/Aaa 0 -SURF2 UCSF GRCh37 9 136226929 136226929 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 8 89 0 ENST00000371964.4:c.441G>A p.Arg147= p.R147= ENST00000371964 NM_001278928.1 147 cgG/cgA 0 -SUV420H1 UCSF GRCh37 11 67926313 67926313 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 15 132 0 ENST00000304363.4:c.1500C>T p.Ala500= p.A500= ENST00000304363 NM_017635.3 500 gcC/gcT 0 -SV2B UCSF GRCh37 15 91769927 91769927 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 7 110 0 ENST00000330276.4:c.434C>T p.Ser145Phe p.S145F ENST00000330276 145 tCc/tTc 0 -SWT1 UCSF GRCh37 1 185259900 185259900 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 12 145 0 ENST00000367500.4:c.2668G>A p.Gly890Arg p.G890R ENST00000367500 NM_017673.6 890 Gga/Aga 0 -SYAP1 UCSF GRCh37 X 16773095 16773095 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 18 80 0 ENST00000380155.3:c.603C>T p.Asn201= p.N201= ENST00000380155 NM_032796.3 201 aaC/aaT 0 -SYMPK UCSF GRCh37 19 46331177 46331177 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 9 83 0 ENST00000245934.7:c.1986-1G>A p.X662_splice ENST00000245934 NM_004819.2 0 -SYMPK UCSF GRCh37 19 46355767 46355767 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 271 38 422 0 ENST00000245934.7:c.198C>T p.Asp66= p.D66= ENST00000245934 NM_004819.2 66 gaC/gaT 0 -SYN1 UCSF GRCh37 X 47478988 47478988 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 4 55 0 ENST00000295987.7:c.140G>A p.Gly47Glu p.G47E ENST00000295987 NM_006950.3 47 gGg/gAg 0 -SYNE1 UCSF GRCh37 6 152725353 152725353 + missense_variant Missense_Mutation SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 23 101 0 ENST00000367255.5:c.6820C>A p.Leu2274Ile p.L2274I ENST00000367255 NM_182961.3 2274 Ctt/Att 0 -SYNE1 UCSF GRCh37 6 152665324 152665324 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 19 89 0 ENST00000367255.5:c.12117C>T p.Val4039= p.V4039= ENST00000367255 NM_182961.3 4039 gtC/gtT 0 -SYNE2 UCSF GRCh37 14 64626029 64626029 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 22 178 0 ENST00000344113.4:c.15964-1G>A p.X5322_splice ENST00000344113 NM_015180.4 0 -SYT16 UCSF GRCh37 14 62547594 62547594 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 14 75 0 ENST00000430451.2:c.1036G>A p.Glu346Lys p.E346K ENST00000430451 NM_031914.2 346 Gag/Aag 0 -SYT5 UCSF GRCh37 19 55686648 55686648 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 26 153 1 ENST00000354308.3:c.600C>T p.Arg200= p.R200= ENST00000354308 NM_003180.2 200 cgC/cgT 0 -SYT9 UCSF GRCh37 11 7324534 7324534 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 13 71 0 ENST00000318881.6:c.410C>T p.Pro137Leu p.P137L ENST00000318881 NM_175733.3 137 cCc/cTc 0 -SZT2 UCSF GRCh37 1 43893377 43893377 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 6 48 0 ENST00000562955.1:c.3604C>T p.Pro1202Ser p.P1202S ENST00000562955 NM_015284.3 1202 Cct/Tct 0 -SZT2 UCSF GRCh37 1 43894075 43894075 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 17 97 0 ENST00000562955.1:c.3913C>T p.Pro1305Ser p.P1305S ENST00000562955 NM_015284.3 1305 Cct/Tct 0 -SZT2 UCSF GRCh37 1 43898012 43898012 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 25 239 0 ENST00000562955.1:c.5173G>A p.Ala1725Thr p.A1725T ENST00000562955 NM_015284.3 1725 Gca/Aca 0 -SZT2 UCSF GRCh37 1 43911930 43911930 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 12 144 0 ENST00000562955.1:c.8826G>A p.Gln2942= p.Q2942= ENST00000562955 NM_015284.3 2942 caG/caA 0 -TAAR9 UCSF GRCh37 6 132859688 132859688 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 315 52 425 0 ENST00000434551.1:c.260C>T p.Pro87Leu p.P87L ENST00000434551 NM_175057.3 87 cCc/cTc 0 -TAAR9 UCSF GRCh37 6 132859645 132859645 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 312 49 408 0 ENST00000434551.1:c.217T>C p.Ser73Pro p.S73P ENST00000434551 NM_175057.3 73 Tcg/Ccg 0 -TACC1 UCSF GRCh37 8 38699936 38699936 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 21 131 0 ENST00000317827.4:c.2092C>G p.Leu698Val p.L698V ENST00000317827 NM_006283.2 698 Ctg/Gtg 0 -TACC3 UCSF GRCh37 4 1739337 1739337 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 15 120 0 ENST00000313288.4:c.1849C>T p.Pro617Ser p.P617S ENST00000313288 NM_006342.2 617 Ccc/Tcc 0 -TACR3 UCSF GRCh37 4 104579464 104579464 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 68 240 0 ENST00000304883.2:c.645C>T p.Ala215= p.A215= ENST00000304883 NM_001059.2 215 gcC/gcT 0 -TACSTD2 UCSF GRCh37 1 59042226 59042226 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 23 224 0 ENST00000371225.2:c.603C>T p.Ile201= p.I201= ENST00000371225 NM_002353.2 201 atC/atT 0 -TACSTD2 UCSF GRCh37 1 59042664 59042664 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 100 13 108 0 ENST00000371225.2:c.165C>T p.Cys55= p.C55= ENST00000371225 NM_002353.2 55 tgC/tgT 0 -TADA2B UCSF GRCh37 4 7056411 7056411 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 14 144 0 ENST00000310074.7:c.893G>A p.Gly298Glu p.G298E ENST00000310074 NM_152293.2 298 gGg/gAg 0 -TADA3 UCSF GRCh37 3 9829012 9829012 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 9 70 0 ENST00000301964.2:c.577G>A p.Gly193Arg p.G193R ENST00000301964 NM_006354.3 193 Ggg/Agg 0 -TAF9 UCSF GRCh37 5 68661436 68661436 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 341 45 482 0 ENST00000217893.5:c.129C>T p.Ala43= p.A43= ENST00000217893 NM_003187.4 43 gcC/gcT 0 -TAOK3 UCSF GRCh37 12 118590125 118590125 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 405 76 566 0 ENST00000392533.3:c.2442C>T p.Ser814= p.S814= ENST00000392533 NM_016281.3 814 agC/agT 0 -TAP2 UCSF GRCh37 6 32800159 32800159 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 30 202 0 ENST00000374897.2:c.1223G>A p.Ser408Asn p.S408N ENST00000374897 NM_000544.3 408 aGc/aAc 0 -TAP2 UCSF GRCh37 6 32805988 32805988 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 7 43 0 ENST00000374897.2:c.23C>T p.Pro8Leu p.P8L ENST00000374897 NM_000544.3 8 cCc/cTc 0 -TARS UCSF GRCh37 5 33462252 33462252 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 18 79 0 ENST00000265112.3:c.1779C>T p.Ile593= p.I593= ENST00000265112 NM_152295.4 593 atC/atT 0 -TAS1R2 UCSF GRCh37 1 19166441 19166441 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 24 183 0 ENST00000375371.3:c.2172C>T p.Tyr724= p.Y724= ENST00000375371 NM_152232.2 724 taC/taT 0 -TAS2R16 UCSF GRCh37 7 122634918 122634918 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 342 45 394 0 ENST00000249284.2:c.771G>A p.Trp257Ter p.W257* ENST00000249284 NM_016945.2 257 tgG/tgA 0 -TBC1D1 UCSF GRCh37 4 38138876 38138876 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 9 52 0 ENST00000261439.4:c.3427G>A p.Val1143Met p.V1143M ENST00000261439 NM_015173.3 1143 Gtg/Atg 0 -TBC1D16 UCSF GRCh37 17 77984245 77984245 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 17 140 0 ENST00000310924.2:c.493G>A p.Ala165Thr p.A165T ENST00000310924 NM_019020.3 165 Gcg/Acg 0 -TBC1D24 UCSF GRCh37 16 2548302 2548302 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 144 17 161 0 ENST00000293970.5:c.1047G>A p.Glu349= p.E349= ENST00000293970 NM_001199107.1 349 gaG/gaA 0 -TBC1D24 UCSF GRCh37 16 2549836 2549836 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 27 73 0 ENST00000293970.5:c.1207G>A p.Val403Met p.V403M ENST00000293970 NM_001199107.1 403 Gtg/Atg 0 -TBC1D2B UCSF GRCh37 15 78369778 78369778 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 4 35 0 ENST00000300584.3:c.217C>T p.Pro73Ser p.P73S ENST00000300584 NM_144572.1 73 Ccg/Tcg 0 -TBC1D9 UCSF GRCh37 4 141543756 141543756 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 24 253 0 ENST00000442267.2:c.3394G>A p.Asp1132Asn p.D1132N ENST00000442267 NM_015130.2 1132 Gac/Aac 0 -TBX19 UCSF GRCh37 1 168260609 168260609 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 12 74 0 ENST00000367821.3:c.415C>T p.Pro139Ser p.P139S ENST00000367821 NM_005149.2 139 Ccc/Tcc 0 -TBX20 UCSF GRCh37 7 35289735 35289735 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 5 47 0 ENST00000408931.3:c.208G>A p.Gly70Ser p.G70S ENST00000408931 NM_001077653.2 70 Ggc/Agc 0 -TBX4 UCSF GRCh37 17 59534957 59534957 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 15 90 0 ENST00000240335.1:c.246G>A p.Glu82= p.E82= ENST00000240335 NM_018488.2 82 gaG/gaA 0 -TCF25 UCSF GRCh37 16 89954120 89954120 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 3 68 0 ENST00000263346.8:c.609G>A p.Glu203= p.E203= ENST00000263346 NM_014972.2 203 gaG/gaA 0 -TCF7L1 UCSF GRCh37 2 85532455 85532455 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 38 199 0 ENST00000282111.3:c.918C>T p.Pro306= p.P306= ENST00000282111 NM_031283.2 306 ccC/ccT 0 -TCFL5 UCSF GRCh37 20 61488834 61488834 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 305 83 457 0 ENST00000335351.3:c.1151C>T p.Ala384Val p.A384V ENST00000335351 NM_006602.2 384 gCa/gTa 0 -TCHH UCSF GRCh37 1 152083914 152083914 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 480 100 754 0 ENST00000368804.1:c.1779G>A p.Glu593= p.E593= ENST00000368804 NM_007113.3 593 gaG/gaA 0 -TCIRG1 UCSF GRCh37 11 67815257 67815257 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 18 134 0 ENST00000265686.3:c.1449C>T p.Asn483= p.N483= ENST00000265686 NM_006019.3 483 aaC/aaT 0 -TCN2 UCSF GRCh37 22 31010439 31010439 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 8 48 0 ENST00000215838.3:c.531C>T p.Asp177= p.D177= ENST00000215838 177 gaC/gaT 0 -TCTE1 UCSF GRCh37 6 44250156 44250156 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 17 112 0 ENST00000371505.4:c.987G>A p.Lys329= p.K329= ENST00000371505 NM_182539.3 329 aaG/aaA 0 -TDP1 UCSF GRCh37 14 90429642 90429642 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 23 153 0 ENST00000335725.4:c.184C>T p.Pro62Ser p.P62S ENST00000335725 NM_018319.3 62 Cct/Tct 0 -TDRD7 UCSF GRCh37 9 100222459 100222459 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 22 85 0 ENST00000355295.4:c.856-1G>A p.X286_splice ENST00000355295 NM_014290.2 0 -TDRD9 UCSF GRCh37 14 104484461 104484461 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 8 105 0 ENST00000409874.4:c.2364C>T p.Tyr788= p.Y788= ENST00000409874 NM_153046.2 788 taC/taT 0 -TEC 7006 UCSF GRCh37 4 48230504 48230504 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 10 87 0 ENST00000381501.3:c.128G>A p.Gly43Asp p.G43D ENST00000381501 NM_003215.2 43 gGt/gAt 0 -TEKT3 UCSF GRCh37 17 15231345 15231345 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 27 193 0 ENST00000338696.2:c.627C>T p.Asp209= p.D209= ENST00000338696 209 gaC/gaT 0 -TEKT4 UCSF GRCh37 2 95542486 95542486 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 19 272 0 ENST00000295201.4:c.1280C>T p.Thr427Ile p.T427I ENST00000295201 NM_144705.2 427 aCc/aTc 0 -TET1 UCSF GRCh37 10 70412308 70412308 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 19 148 0 ENST00000373644.4:c.4418G>A p.Gly1473Asp p.G1473D ENST00000373644 NM_030625.2 1473 gGt/gAt 0 -TFAP2A UCSF GRCh37 6 10410254 10410254 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 19 126 0 ENST00000482890.1:c.360C>T p.Gly120= p.G120= ENST00000482890 120 ggC/ggT 0 -TFAP2D UCSF GRCh37 6 50712900 50712900 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 29 131 0 ENST00000008391.3:c.964G>A p.Ala322Thr p.A322T ENST00000008391 NM_172238.3 322 Gcc/Acc 0 -TFE3 UCSF GRCh37 X 48891659 48891659 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 19 87 0 ENST00000315869.7:c.993G>A p.Arg331= p.R331= ENST00000315869 NM_006521.4 331 cgG/cgA 0 -TGFB1 UCSF GRCh37 19 41858729 41858729 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 15 62 0 ENST00000221930.5:c.221C>T p.Pro74Leu p.P74L ENST00000221930 NM_000660.4 74 cCc/cTc 0 -THAP10 UCSF GRCh37 15 71184308 71184308 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 8 90 0 ENST00000249861.4:c.304G>A p.Glu102Lys p.E102K ENST00000249861 NM_020147.3 102 Gag/Aag 0 -THAP8 UCSF GRCh37 19 36526365 36526365 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 23 186 0 ENST00000292894.1:c.802G>A p.Asp268Asn p.D268N ENST00000292894 NM_152658.2 268 Gac/Aac 0 -THBS2 UCSF GRCh37 6 169646295 169646295 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 11 112 0 ENST00000366787.3:c.691G>A p.Gly231Arg p.G231R ENST00000366787 NM_003247.2 231 Gga/Aga 0 -THBS2 UCSF GRCh37 6 169622376 169622376 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 9 72 0 ENST00000366787.3:c.3189G>A p.Val1063= p.V1063= ENST00000366787 NM_003247.2 1063 gtG/gtA 0 -THBS3 UCSF GRCh37 1 155172176 155172176 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 19 130 0 ENST00000368378.3:c.974C>T p.Pro325Leu p.P325L ENST00000368378 NM_007112.4 325 cCc/cTc 0 -THRAP3 UCSF GRCh37 1 36752234 36752234 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 229 140 422 0 ENST00000354618.5:c.403C>T p.Pro135Ser p.P135S ENST00000354618 NM_005119.3 135 Cct/Tct 0 -THSD7B UCSF GRCh37 2 137990496 137990496 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 26 192 0 ENST00000272643.3:c.1943C>T p.Ala648Val p.A648V ENST00000272643 648 gCt/gTt 0 -THSD7B UCSF GRCh37 2 138378229 138378229 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 11 134 1 ENST00000272643.3:c.3741C>T p.Cys1247= p.C1247= ENST00000272643 1247 tgC/tgT 0 -TIAM1 UCSF GRCh37 21 32617945 32617945 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 11 94 0 ENST00000286827.3:c.1443C>T p.Gly481= p.G481= ENST00000286827 NM_003253.2 481 ggC/ggT 0 -TIAM2 UCSF GRCh37 6 155577830 155577830 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 10 62 0 ENST00000318981.5:c.4681C>T p.Leu1561Phe p.L1561F ENST00000318981 NM_012454.3 1561 Ctc/Ttc 0 -TIGD5 UCSF GRCh37 8 144680968 144680968 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 23 166 0 ENST00000321385.3:c.748G>A p.Asp250Asn p.D250N ENST00000321385 250 Gac/Aac 0 -TIGD6 UCSF GRCh37 5 149375414 149375414 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 339 48 567 0 ENST00000296736.3:c.498G>A p.Leu166= p.L166= ENST00000296736 NM_030953.3 166 ctG/ctA 0 -TIMELESS UCSF GRCh37 12 56822416 56822416 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 8 47 0 ENST00000553532.1:c.1325C>T p.Ala442Val p.A442V ENST00000553532 442 gCc/gTc 0 -TIMP3 UCSF GRCh37 22 33255238 33255238 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 16 142 0 ENST00000266085.6:c.510C>T p.Ser170= p.S170= ENST00000266085 NM_000362.4 170 tcC/tcT 0 -TINAG UCSF GRCh37 6 54212223 54212223 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 26 233 0 ENST00000259782.4:c.807C>T p.Ser269= p.S269= ENST00000259782 NM_014464.3 269 tcC/tcT 0 -TINAG UCSF GRCh37 6 54185408 54185408 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 17 175 0 ENST00000259782.4:c.387G>A p.Glu129= p.E129= ENST00000259782 NM_014464.3 129 gaG/gaA 0 -TKT UCSF GRCh37 3 53275214 53275214 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 167 25 258 0 ENST00000423525.2:c.273C>T p.Phe91= p.F91= ENST00000423525 NM_001135055.2 91 ttC/ttT 0 -TLCD1 UCSF GRCh37 17 27051565 27051565 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 26 142 0 ENST00000292090.3:c.707C>T p.Pro236Leu p.P236L ENST00000292090 NM_138463.3 236 cCc/cTc 0 -TLE1 UCSF GRCh37 9 84200524 84200524 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 5 70 0 ENST00000376499.3:c.2024G>A p.Gly675Asp p.G675D ENST00000376499 NM_005077.3 675 gGc/gAc 0 -TLE1 UCSF GRCh37 9 84249150 84249150 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 29 77 0 ENST00000376499.3:c.439C>T p.Pro147Ser p.P147S ENST00000376499 NM_005077.3 147 Cct/Tct 0 -TLK2 UCSF GRCh37 17 60598179 60598179 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 4 34 0 ENST00000326270.9:c.127G>A p.Gly43Arg p.G43R ENST00000326270 NM_001284333.1 43 Gga/Aga 0 -TLK2 UCSF GRCh37 17 60598172 60598172 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 4 35 1 ENST00000326270.9:c.120C>T p.Cys40= p.C40= ENST00000326270 NM_001284333.1 40 tgC/tgT 0 -TLN1 UCSF GRCh37 9 35711782 35711782 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 32 282 0 ENST00000314888.9:c.3689C>T p.Pro1230Leu p.P1230L ENST00000314888 NM_006289.3 1230 cCt/cTt 0 -TLX2 UCSF GRCh37 2 74742762 74742762 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 15 119 0 ENST00000233638.7:c.403G>A p.Ala135Thr p.A135T ENST00000233638 NM_016170.4 135 Gcg/Acg 0 -TM2D1 UCSF GRCh37 1 62175098 62175098 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 16 191 1 ENST00000294613.5:c.250C>T p.Pro84Ser p.P84S ENST00000294613 84 Cca/Tca 0 -TM4SF5 UCSF GRCh37 17 4675277 4675277 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 188 39 253 1 ENST00000270560.3:c.60C>T p.Val20= p.V20= ENST00000270560 NM_003963.2 20 gtC/gtT 0 -TM9SF2 UCSF GRCh37 13 100206648 100206648 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 210 31 283 0 ENST00000376387.4:c.1579G>A p.Gly527Arg p.G527R ENST00000376387 NM_004800.2 527 Gga/Aga 0 -TMC6 UCSF GRCh37 17 76122428 76122428 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 14 108 0 ENST00000322914.3:c.201C>T p.Leu67= p.L67= ENST00000322914 NM_007267.6 67 ctC/ctT 0 -TMC7 UCSF GRCh37 16 19033040 19033040 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 9 119 0 ENST00000304381.5:c.550C>T p.Leu184= p.L184= ENST00000304381 NM_024847.3 184 Ctg/Ttg 0 -TMCC2 UCSF GRCh37 1 205238657 205238657 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 192 24 295 0 ENST00000358024.3:c.1327G>A p.Ala443Thr p.A443T ENST00000358024 NM_014858.3 443 Gcc/Acc 0 -TMED3 UCSF GRCh37 15 79614385 79614385 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 15 155 0 ENST00000299705.5:c.483C>T p.Tyr161= p.Y161= ENST00000299705 NM_007364.2 161 taC/taT 0 -TMEM119 UCSF GRCh37 12 108985533 108985533 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 244 40 321 0 ENST00000392806.3:c.627G>A p.Glu209= p.E209= ENST00000392806 NM_181724.2 209 gaG/gaA 0 -TMEM130 UCSF GRCh37 7 98460878 98460878 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 24 259 0 ENST00000416379.2:c.231C>T p.Thr77= p.T77= ENST00000416379 77 acC/acT 0 -TMEM132D UCSF GRCh37 12 130184605 130184605 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 242 45 355 0 ENST00000422113.2:c.718G>A p.Val240Ile p.V240I ENST00000422113 NM_133448.2 240 Gtc/Atc 0 -TMEM132D UCSF GRCh37 12 130185023 130185023 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 29 235 0 ENST00000422113.2:c.300C>T p.Phe100= p.F100= ENST00000422113 NM_133448.2 100 ttC/ttT 0 -TMEM132E UCSF GRCh37 17 32962033 32962033 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 15 94 0 ENST00000321639.5:c.1634G>A p.Gly545Asp p.G545D ENST00000321639 NM_207313.1 545 gGc/gAc 0 -TMEM132E UCSF GRCh37 17 32965084 32965084 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 5 38 0 ENST00000321639.5:c.2788A>G p.Thr930Ala p.T930A ENST00000321639 NM_207313.1 930 Acg/Gcg 0 -TMEM169 UCSF GRCh37 2 216960818 216960818 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 5 55 0 ENST00000295658.4:c.132G>A p.Arg44= p.R44= ENST00000295658 NM_001142311.1 44 agG/agA 0 -TMEM181 UCSF GRCh37 6 158957817 158957817 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 8 54 0 ENST00000367090.3:c.339G>A p.Lys113= p.K113= ENST00000367090 NM_020823.1 113 aaG/aaA 0 -TMEM201 UCSF GRCh37 1 9661372 9661372 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 234 48 260 0 ENST00000340381.6:c.816G>A p.Arg272= p.R272= ENST00000340381 NM_001130924.2 272 cgG/cgA 0 -TMEM222 UCSF GRCh37 1 27660449 27660449 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 15 116 0 ENST00000374076.4:c.312G>A p.Lys104= p.K104= ENST00000374076 NM_032125.2 104 aaG/aaA 0 -TMEM25 UCSF GRCh37 11 118403728 118403728 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 157 21 165 0 ENST00000313236.5:c.479C>T p.Pro160Leu p.P160L ENST00000313236 NM_032780.3 160 cCg/cTg 0 -TMEM42 UCSF GRCh37 3 44903518 44903518 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 4 37 0 ENST00000302392.4:c.102G>A p.Arg34= p.R34= ENST00000302392 NM_144638.1 34 cgG/cgA 0 -TMEM53 UCSF GRCh37 1 45120392 45120392 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 12 106 0 ENST00000372237.3:c.673G>A p.Ala225Thr p.A225T ENST00000372237 NM_024587.2 225 Gcc/Acc 0 -TMEM55B UCSF GRCh37 14 20927400 20927400 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 20 71 0 ENST00000250489.4:c.655G>C p.Gly219Arg p.G219R ENST00000250489 219 Ggc/Cgc 0 -TMEM59 UCSF GRCh37 1 54518683 54518683 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 15 76 0 ENST00000234831.5:c.179C>T p.Thr60Ile p.T60I ENST00000234831 NM_004872.3 60 aCc/aTc 0 -TMEM62 UCSF GRCh37 15 43470893 43470893 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 10 141 0 ENST00000260403.2:c.1470C>T p.Thr490= p.T490= ENST00000260403 NM_024956.3 490 acC/acT 0 -TMEM8A UCSF GRCh37 16 427491 427491 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 20 95 0 ENST00000431232.2:c.394C>T p.Pro132Ser p.P132S ENST00000431232 NM_021259.2 132 Ccg/Tcg 0 -TMPRSS11A UCSF GRCh37 4 68788560 68788560 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 21 151 0 ENST00000334830.7:c.614C>T p.Ala205Val p.A205V ENST00000334830 205 gCt/gTt 0 -TMPRSS3 UCSF GRCh37 21 43808636 43808636 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 13 92 0 ENST00000291532.3:c.323-1G>A p.X108_splice ENST00000291532 NM_032404.2 0 -TMPRSS9 UCSF GRCh37 19 2415743 2415743 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 15 96 0 ENST00000332578.3:c.1547C>T p.Pro516Leu p.P516L ENST00000332578 NM_182973.1 516 cCc/cTc 0 -TMTC2 UCSF GRCh37 12 83251288 83251288 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 16 119 0 ENST00000321196.3:c.583G>A p.Val195Ile p.V195I ENST00000321196 NM_152588.1 195 Gtt/Att 0 -TNC UCSF GRCh37 9 117822222 117822222 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 15 154 0 ENST00000350763.4:c.4093C>T p.Leu1365Phe p.L1365F ENST00000350763 NM_002160.3 1365 Ctc/Ttc 0 -TNC UCSF GRCh37 9 117797614 117797614 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 5 72 0 ENST00000350763.4:c.5657-1G>A p.X1886_splice ENST00000350763 NM_002160.3 0 -TNFAIP3 UCSF GRCh37 6 138196016 138196016 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 19 70 0 ENST00000237289.4:c.330G>A p.Gln110= p.Q110= ENST00000237289 NM_001270507.1 110 caG/caA 0 -TNFRSF12A UCSF GRCh37 16 3071622 3071622 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 9 103 0 ENST00000326577.4:c.266C>T p.Thr89Ile p.T89I ENST00000326577 NM_016639.2 89 aCc/aTc 0 -TNFRSF12A UCSF GRCh37 16 3071303 3071303 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 3 30 0 ENST00000326577.4:c.182G>A p.Ser61Asn p.S61N ENST00000326577 NM_016639.2 61 aGc/aAc 0 -TNFRSF4 UCSF GRCh37 1 1149139 1149139 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 5 59 0 ENST00000379236.3:c.172C>T p.Arg58Cys p.R58C ENST00000379236 NM_003327.3 58 Cgc/Tgc 0 -TNN UCSF GRCh37 1 175063312 175063312 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 8 88 0 ENST00000239462.4:c.1511G>A p.Gly504Glu p.G504E ENST00000239462 NM_022093.1 504 gGa/gAa 0 -TNNI3 UCSF GRCh37 19 55666175 55666175 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 426 74 506 0 ENST00000344887.5:c.306C>T p.Ala102= p.A102= ENST00000344887 NM_000363.4 102 gcC/gcT 0 -TNR UCSF GRCh37 1 175304879 175304879 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 43 181 0 ENST00000263525.2:c.3599G>A p.Gly1200Asp p.G1200D ENST00000263525 NM_003285.2 1200 gGc/gAc 0 -TNRC6A UCSF GRCh37 16 24802848 24802848 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 19 216 0 ENST00000395799.3:c.2885C>T p.Thr962Ile p.T962I ENST00000395799 NM_014494.2 962 aCa/aTa 0 -TNRC6A UCSF GRCh37 16 24802814 24802814 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 33 236 0 ENST00000395799.3:c.2851G>A p.Asp951Asn p.D951N ENST00000395799 NM_014494.2 951 Gac/Aac 0 -TNRC6B UCSF GRCh37 22 40708906 40708906 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 190 35 272 0 ENST00000454349.2:c.4583G>A p.Gly1528Glu p.G1528E ENST00000454349 NM_001162501.1 1528 gGg/gAg 0 -TNS1 UCSF GRCh37 2 218682831 218682831 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 47 116 0 ENST00000171887.4:c.3912C>T p.Leu1304= p.L1304= ENST00000171887 NM_022648.4 1304 ctC/ctT 0 -TOM1 UCSF GRCh37 22 35713910 35713910 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 29 249 1 ENST00000449058.2:c.93C>T p.Ala31= p.A31= ENST00000449058 NM_005488.2 31 gcC/gcT 0 -TOM1L2 UCSF GRCh37 17 17810816 17810816 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 8 52 0 ENST00000379504.3:c.82G>A p.Glu28Lys p.E28K ENST00000379504 NM_001082968.1 28 Gag/Aag 0 -TOMM20L UCSF GRCh37 14 58862680 58862680 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 7 68 0 ENST00000360945.2:c.5C>T p.Pro2Leu p.P2L ENST00000360945 NM_207377.2 2 cCc/cTc 0 -TOP3B UCSF GRCh37 22 22323107 22323107 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 13 133 0 ENST00000357179.5:c.622G>A p.Asp208Asn p.D208N ENST00000357179 NM_001282113.1 208 Gac/Aac 0 -TOPBP1 UCSF GRCh37 3 133376764 133376764 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 5 47 0 ENST00000260810.5:c.241C>T p.Pro81Ser p.P81S ENST00000260810 NM_007027.3 81 Cct/Tct 0 -TOR1A UCSF GRCh37 9 132584870 132584870 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 184 38 267 0 ENST00000351698.4:c.434C>T p.Thr145Ile p.T145I ENST00000351698 NM_000113.2 145 aCc/aTc 0 -TOR1B UCSF GRCh37 9 132571844 132571844 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 18 172 0 ENST00000259339.2:c.993G>A p.Ser331= p.S331= ENST00000259339 NM_014506.1 331 tcG/tcA 0 -TOX2 UCSF GRCh37 20 42694411 42694411 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 30 209 0 ENST00000358131.5:c.966C>T p.Leu322= p.L322= ENST00000358131 NM_001098798.1 322 ctC/ctT 0 -TP53 UCSF GRCh37 17 7576858 7576858 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 0 ENST00000269305.4:c.988delC p.Leu330PhefsTer15 p.L330Ffs*15 ENST00000269305 NM_001126112.2 330 Ctt/tt 0 -TP53I11 UCSF GRCh37 11 44958415 44958415 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 8 28 0 ENST00000308212.5:c.273C>T p.Val91= p.V91= ENST00000308212 NM_001258321.1 91 gtC/gtT 0 -TP73 UCSF GRCh37 1 3599662 3599662 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 25 154 0 ENST00000378295.4:c.104G>A p.Ser35Asn p.S35N ENST00000378295 NM_005427.3 35 aGc/aAc 0 -TPP2 UCSF GRCh37 13 103326689 103326689 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 17 4 36 0 ENST00000376065.4:c.3389C>T p.Ala1130Val p.A1130V ENST00000376065 NM_003291.2 1130 gCc/gTc 0 -TRADD UCSF GRCh37 16 67188669 67188669 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 25 194 0 ENST00000345057.4:c.822G>A p.Gln274= p.Q274= ENST00000345057 NM_003789.3 274 caG/caA 0 -TRAK2 UCSF GRCh37 2 202260088 202260088 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 199 37 268 0 ENST00000332624.3:c.849G>A p.Glu283= p.E283= ENST00000332624 NM_015049.2 283 gaG/gaA 0 -TRAM2 UCSF GRCh37 6 52370449 52370449 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 100 68 175 0 ENST00000182527.3:c.823G>A p.Glu275Lys p.E275K ENST00000182527 NM_012288.3 275 Gaa/Aaa 0 -TRAPPC10 UCSF GRCh37 21 45514041 45514041 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 14 125 0 ENST00000291574.4:c.3095C>T p.Ser1032Phe p.S1032F ENST00000291574 NM_003274.4 1032 tCc/tTc 0 -TRAPPC8 UCSF GRCh37 18 29522635 29522635 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 13 87 0 ENST00000283351.4:c.93C>T p.Leu31= p.L31= ENST00000283351 NM_014939.3 31 ctC/ctT 0 -TRIM29 UCSF GRCh37 11 120008482 120008482 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 23 196 0 ENST00000341846.5:c.258G>A p.Gly86= p.G86= ENST00000341846 NM_012101.3 86 ggG/ggA 0 -TRIM38 UCSF GRCh37 6 25972150 25972150 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 16 162 0 ENST00000357085.3:c.561G>A p.Gln187= p.Q187= ENST00000357085 NM_006355.3 187 caG/caA 0 -TRIM46 UCSF GRCh37 1 155156634 155156634 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 221 37 301 0 ENST00000334634.4:c.2248G>A p.Val750Ile p.V750I ENST00000334634 NM_001282378.1 750 Gtc/Atc 0 -TRIM59 UCSF GRCh37 3 160156831 160156831 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 19 171 0 ENST00000309784.4:c.141G>A p.Trp47Ter p.W47* ENST00000309784 NM_173084.2 47 tgG/tgA 0 -TRIM6 UCSF GRCh37 11 5624670 5624670 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 43 178 0 ENST00000278302.5:c.128G>A p.Gly43Asp p.G43D ENST00000278302 NM_058166.4 43 gGc/gAc 0 -TRIM6 UCSF GRCh37 11 5631473 5631473 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 14 128 0 ENST00000278302.5:c.872G>A p.Arg291Lys p.R291K ENST00000278302 NM_058166.4 291 aGa/aAa 0 -TRIM69 UCSF GRCh37 15 45051860 45051860 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 12 145 0 ENST00000329464.4:c.836G>A p.Ser279Asn p.S279N ENST00000329464 NM_182985.3 279 aGc/aAc 0 -TRIM8 UCSF GRCh37 10 104416075 104416075 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 20 163 0 ENST00000302424.7:c.981C>T p.His327= p.H327= ENST00000302424 NM_030912.2 327 caC/caT 0 -TRIOBP UCSF GRCh37 22 38121147 38121147 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 378 62 565 1 ENST00000406386.3:c.2584G>A p.Asp862Asn p.D862N ENST00000406386 NM_001039141.2 862 Gac/Aac 0 -TRIP11 UCSF GRCh37 14 92505980 92505980 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 4 46 0 ENST00000267622.4:c.50G>A p.Gly17Asp p.G17D ENST00000267622 NM_004239.3 17 gGt/gAt 0 -TRMT11 UCSF GRCh37 6 126329619 126329619 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 25 200 0 ENST00000334379.5:c.760+1G>A p.X254_splice ENST00000334379 NM_001031712.2 0 -TRO UCSF GRCh37 X 54949066 54949066 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 15 135 0 ENST00000173898.7:c.101C>T p.Thr34Ile p.T34I ENST00000173898 NM_001039705.2 34 aCt/aTt 0 -TRPC4 UCSF GRCh37 13 38211153 38211153 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 41 380 0 ENST00000379705.3:c.2821G>A p.Val941Ile p.V941I ENST00000379705 941 Gtt/Att 0 -TRPM1 UCSF GRCh37 15 31330285 31330285 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 20 123 0 ENST00000397795.2:c.2335G>A p.Glu779Lys p.E779K ENST00000397795 NM_002420.5 779 Gaa/Aaa 0 -TRPM8 UCSF GRCh37 2 234888831 234888831 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 4 53 0 ENST00000324695.4:c.2356-1G>A p.X786_splice ENST00000324695 NM_024080.4 0 -TRPM8 UCSF GRCh37 2 234851359 234851359 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 10 83 0 ENST00000324695.4:c.666C>T p.Asn222= p.N222= ENST00000324695 NM_024080.4 222 aaC/aaT 0 -TRPM8 UCSF GRCh37 2 234863816 234863816 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 236 27 345 0 ENST00000324695.4:c.1284G>A p.Gly428= p.G428= ENST00000324695 NM_024080.4 428 ggG/ggA 0 -TRPV2 UCSF GRCh37 17 16321100 16321100 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 8 96 0 ENST00000338560.7:c.118G>A p.Glu40Lys p.E40K ENST00000338560 NM_016113.4 40 Gag/Aag 0 -TRPV4 UCSF GRCh37 12 110222122 110222122 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 6 79 0 ENST00000261740.2:c.2457G>A p.Arg819= p.R819= ENST00000261740 NM_021625.4 819 agG/agA 0 -TRUB2 UCSF GRCh37 9 131077889 131077889 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 21 198 0 ENST00000372890.4:c.335G>A p.Gly112Glu p.G112E ENST00000372890 NM_015679.1 112 gGa/gAa 0 -TSGA14 UCSF GRCh37 7 130041759 130041759 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 226 28 207 0 ENST00000223208.5:c.605G>A p.Arg202Lys p.R202K ENST00000223208 NM_018718.2 202 aGa/aAa 0 -TSNAXIP1 UCSF GRCh37 16 67855009 67855009 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 18 129 0 ENST00000388833.3:c.106C>T p.Gln36Ter p.Q36* ENST00000388833 NM_018430.2 36 Cag/Tag 0 -TSPYL2 UCSF GRCh37 X 53112164 53112164 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 17 67 0 ENST00000375442.4:c.484C>T p.Pro162Ser p.P162S ENST00000375442 NM_022117.3 162 Ccg/Tcg 0 -TSTD2 UCSF GRCh37 9 100367915 100367915 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 6 71 0 ENST00000341170.4:c.963C>T p.Phe321= p.F321= ENST00000341170 NM_139246.4 321 ttC/ttT 0 -TTBK1 UCSF GRCh37 6 43221096 43221096 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 11 80 1 ENST00000259750.4:c.324G>A p.Gln108= p.Q108= ENST00000259750 NM_032538.1 108 caG/caA 0 -TTC16 UCSF GRCh37 9 130491936 130491936 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 14 135 0 ENST00000373289.3:c.1841C>T p.Ser614Phe p.S614F ENST00000373289 NM_144965.1 614 tCc/tTc 0 -TTC17 UCSF GRCh37 11 43422997 43422997 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL A A - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 0 ENST00000039989.4:c.1223del p.Asn408IlefsTer47 p.N408Ifs*47 ENST00000039989 NM_018259.5 407 ggA/gg 0 -TTC24 UCSF GRCh37 1 156551840 156551840 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 13 83 0 ENST00000368236.3:c.684G>A p.Arg228= p.R228= ENST00000368236 NM_001105669.2 228 agG/agA 0 -TTC28 UCSF GRCh37 22 28693690 28693690 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 9 87 0 ENST00000397906.2:c.680C>T p.Thr227Ile p.T227I ENST00000397906 NM_001145418.1 227 aCc/aTc 0 -TTC3 UCSF GRCh37 21 38466339 38466339 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 14 116 0 ENST00000354749.2:c.636C>T p.Asp212= p.D212= ENST00000354749 212 gaC/gaT 0 -TTC5 UCSF GRCh37 14 20764555 20764555 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 6 61 0 ENST00000258821.3:c.690G>A p.Arg230= p.R230= ENST00000258821 NM_138376.2 230 agG/agA 0 -TTC8 UCSF GRCh37 14 89336424 89336424 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 197 27 296 0 ENST00000380656.2:c.931G>A p.Ala311Thr p.A311T ENST00000380656 NM_144596.2 311 Gca/Aca 0 -TTF2 UCSF GRCh37 1 117624491 117624491 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 39 162 0 ENST00000369466.4:c.1825C>G p.Leu609Val p.L609V ENST00000369466 NM_003594.3 609 Ctc/Gtc 0 -TTLL10 UCSF GRCh37 1 1116199 1116199 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 3 36 0 ENST00000379289.1:c.714C>T p.Ala238= p.A238= ENST00000379289 NM_001130045.1 238 gcC/gcT 0 -TTN UCSF GRCh37 2 179422822 179422822 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 10 145 0 ENST00000591111.1:c.82336G>A p.Ala27446Thr p.A27446T ENST00000591111 27446 Gca/Aca 0 -TTN UCSF GRCh37 2 179485448 179485448 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 256 43 428 0 ENST00000591111.1:c.40966G>A p.Val13656Ile p.V13656I ENST00000591111 13656 Gta/Ata 0 -TTN UCSF GRCh37 2 179633595 179633595 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 220 30 317 0 ENST00000591111.1:c.8968G>A p.Val2990Met p.V2990M ENST00000591111 2990 Gtg/Atg 0 -TTN UCSF GRCh37 2 179417827 179417827 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 12 146 0 ENST00000591111.1:c.84877C>T p.Pro28293Ser p.P28293S ENST00000591111 28293 Cca/Tca 0 -TTN UCSF GRCh37 2 179587979 179587979 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 180 23 276 0 ENST00000591111.1:c.20804C>T p.Thr6935Ile p.T6935I ENST00000591111 6935 aCc/aTc 0 -TTN UCSF GRCh37 2 179401238 179401238 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 13 132 0 ENST00000591111.1:c.95313C>T p.Ala31771= p.A31771= ENST00000591111 31771 gcC/gcT 0 -TUBA3C UCSF GRCh37 13 19748285 19748285 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 4 29 0 ENST00000400113.3:c.1071C>T p.Tyr357= p.Y357= ENST00000400113 NM_006001.2 357 taC/taT 0 -TUBGCP5 UCSF GRCh37 15 22855156 22855156 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 6 26 0 ENST00000283645.4:c.1617G>A p.Gln539= p.Q539= ENST00000283645 NM_052903.4 539 caG/caA 0 -TUFM UCSF GRCh37 16 28855093 28855093 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 11 4 13 0 ENST00000313511.3:c.1158G>A p.Trp386Ter p.W386* ENST00000313511 NM_003321.4 386 tgG/tgA 0 -TXLNB UCSF GRCh37 6 139591620 139591620 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 13 118 0 ENST00000358430.3:c.660G>A p.Glu220= p.E220= ENST00000358430 NM_153235.3 220 gaG/gaA 0 -TXNDC11 UCSF GRCh37 16 11773604 11773604 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 20 201 1 ENST00000356957.3:c.2405C>T p.Ser802Phe p.S802F ENST00000356957 802 tCc/tTc 0 -TXNL1 UCSF GRCh37 18 54281696 54281696 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 22 235 0 ENST00000217515.6:c.694C>T p.Pro232Ser p.P232S ENST00000217515 NM_004786.2 232 Cca/Tca 0 -TYW3 UCSF GRCh37 1 75229704 75229704 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 250 49 388 0 ENST00000370867.3:c.687C>T p.Ala229= p.A229= ENST00000370867 NM_138467.2 229 gcC/gcT 0 -UACA UCSF GRCh37 15 70975129 70975129 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 5 104 0 ENST00000322954.6:c.790G>A p.Glu264Lys p.E264K ENST00000322954 NM_018003.2 264 Gaa/Aaa 0 -UBA1 UCSF GRCh37 X 47074325 47074325 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 32 112 0 ENST00000335972.6:c.3174C>T p.Arg1058= p.R1058= ENST00000335972 NM_003334.3 1058 cgC/cgT 0 -UBA7 UCSF GRCh37 3 49846990 49846990 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 275 44 379 0 ENST00000333486.3:c.2073C>T p.His691= p.H691= ENST00000333486 NM_003335.2 691 caC/caT 0 -UBE2E2 UCSF GRCh37 3 23631264 23631264 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 24 215 0 ENST00000396703.1:c.548C>T p.Thr183Ile p.T183I ENST00000396703 NM_152653.3 183 aCc/aTc 0 -UBE2E2 UCSF GRCh37 3 23250183 23250183 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 36 113 0 ENST00000396703.1:c.-8G>A p.X3_splice ENST00000396703 NM_152653.3 0 -UBE2G2 UCSF GRCh37 21 46197237 46197237 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 48 182 0 ENST00000345496.2:c.221C>T p.Thr74Ile p.T74I ENST00000345496 NM_003343.5 74 aCc/aTc 0 -UBE2Q1 UCSF GRCh37 1 154525615 154525615 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 15 151 0 ENST00000292211.4:c.622G>A p.Glu208Lys p.E208K ENST00000292211 NM_017582.6 208 Gag/Aag 0 -UBE2U UCSF GRCh37 1 64680588 64680588 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 9 70 0 ENST00000371076.3:c.430C>T p.Leu144= p.L144= ENST00000371076 NM_152489.1 144 Cta/Tta 0 -UBE4B UCSF GRCh37 1 10211519 10211519 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 34 297 0 ENST00000343090.6:c.2826C>T p.Asn942= p.N942= ENST00000343090 NM_001105562.2 942 aaC/aaT 0 -UBL4A UCSF GRCh37 X 153713937 153713937 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 12 75 0 ENST00000369660.4:c.415G>A p.Ala139Thr p.A139T ENST00000369660 NM_014235.3 139 Gcc/Acc 0 -UBN1 UCSF GRCh37 16 4926992 4926992 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 25 151 0 ENST00000262376.6:c.3145G>A p.Val1049Ile p.V1049I ENST00000262376 NM_001079514.1 1049 Gtc/Atc 0 -UBQLN2 UCSF GRCh37 X 56590846 56590846 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 19 58 0 ENST00000338222.5:c.540G>A p.Glu180= p.E180= ENST00000338222 NM_013444.3 180 gaG/gaA 0 -UBR1 UCSF GRCh37 15 43360098 43360098 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 11 35 0 ENST00000290650.4:c.796G>A p.Glu266Lys p.E266K ENST00000290650 NM_174916.2 266 Gag/Aag 0 -UBR1 UCSF GRCh37 15 43317174 43317174 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 14 156 0 ENST00000290650.4:c.2592G>A p.Pro864= p.P864= ENST00000290650 NM_174916.2 864 ccG/ccA 0 -UBR1 UCSF GRCh37 15 43346981 43346981 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 238 33 309 0 ENST00000290650.4:c.1398G>A p.Gln466= p.Q466= ENST00000290650 NM_174916.2 466 caG/caA 0 -UBR3 UCSF GRCh37 2 170917685 170917685 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 195 25 364 0 ENST00000272793.5:c.4882G>A p.Glu1628Lys p.E1628K ENST00000272793 1628 Gaa/Aaa 0 -UBR4 UCSF GRCh37 1 19525077 19525077 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 10 118 0 ENST00000375254.3:c.606C>T p.Asn202= p.N202= ENST00000375254 NM_020765.2 202 aaC/aaT 0 -UBR5 UCSF GRCh37 8 103317361 103317361 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 21 171 0 ENST00000520539.1:c.2779G>A p.Val927Ile p.V927I ENST00000520539 NM_015902.5 927 Gta/Ata 0 -UBR5 UCSF GRCh37 8 103266681 103266681 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 17 138 0 ENST00000520539.1:c.8249C>T p.Pro2750Leu p.P2750L ENST00000520539 NM_015902.5 2750 cCc/cTc 0 -UCK2 UCSF GRCh37 1 165859506 165859506 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 7 72 0 ENST00000367879.4:c.165G>A p.Gln55= p.Q55= ENST00000367879 NM_012474.4 55 caG/caA 0 -UCN3 UCSF GRCh37 10 5416100 5416100 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 407 73 227 0 ENST00000380433.3:c.417G>A p.Lys139= p.K139= ENST00000380433 NM_053049.2 139 aaG/aaA 0 -UFSP2 UCSF GRCh37 4 186329183 186329183 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 12 143 0 ENST00000264689.6:c.1028C>T p.Thr343Ile p.T343I ENST00000264689 NM_018359.3 343 aCa/aTa 0 -UGDH UCSF GRCh37 4 39512330 39512330 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 298 35 408 0 ENST00000316423.6:c.416G>A p.Ser139Asn p.S139N ENST00000316423 NM_001184701.1 139 aGt/aAt 0 -UGT2B10 UCSF GRCh37 4 69885857 69885857 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 26 205 0 ENST00000505092.1:n.276G>A *92* ENST00000505092 0 -UGT2B11 UCSF GRCh37 4 70080370 70080370 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 7 64 0 ENST00000446444.1:c.71G>A p.Gly24Glu p.G24E ENST00000446444 NM_001073.1 24 gGa/gAa 0 -BLTP3A UCSF GRCh37 6 34827090 34827090 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 22 175 0 ENST00000192788.5:c.2957C>T p.Ser986Phe p.S986F ENST00000192788 NM_017754.3 986 tCc/tTc 0 -ULK1 UCSF GRCh37 12 132379581 132379581 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 7 45 0 ENST00000321867.4:c.35G>A p.Gly12Asp p.G12D ENST00000321867 NM_003565.2 12 gGc/gAc 0 -ULK2 UCSF GRCh37 17 19741882 19741882 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 17 170 0 ENST00000361658.2:c.719C>T p.Thr240Ile p.T240I ENST00000361658 NM_001142610.1 240 aCa/aTa 0 -ULK3 UCSF GRCh37 15 75131027 75131027 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 24 189 0 ENST00000440863.2:c.1059G>A p.Gln353= p.Q353= ENST00000440863 NM_001099436.1 353 caG/caA 0 -UMOD UCSF GRCh37 16 20360023 20360023 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 8 45 0 ENST00000302509.4:c.600C>T p.Arg200= p.R200= ENST00000302509 200 cgC/cgT 0 -UMODL1 UCSF GRCh37 21 43533867 43533867 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 11 103 0 ENST00000408910.2:c.2289C>T p.Val763= p.V763= ENST00000408910 NM_001004416.2 763 gtC/gtT 0 -UNC13B UCSF GRCh37 9 35396476 35396476 + missense_variant Missense_Mutation SNP A A G snp132_rs17849220 P24_Rec2 Untested WXS Illumina HiSeq 179 37 413 0 ENST00000378495.3:c.3065A>G p.His1022Arg p.H1022R ENST00000378495 NM_006377.3 1022 cAt/cGt 0 -UNC13B UCSF GRCh37 9 35313986 35313986 + missense_variant,splice_region_variant Missense_Mutation SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 7 94 0 ENST00000378495.3:c.1167G>T p.Glu389Asp p.E389D ENST00000378495 NM_006377.3 389 gaG/gaT 0 -UNC13D UCSF GRCh37 17 73839293 73839293 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 11 56 0 ENST00000207549.4:c.208C>T p.Pro70Ser p.P70S ENST00000207549 NM_199242.2 70 Cct/Tct 0 -UNC5C UCSF GRCh37 4 96123949 96123949 + missense_variant Missense_Mutation SNP A A T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 19 57 0 ENST00000453304.1:c.2069T>A p.Leu690Gln p.L690Q ENST00000453304 NM_003728.3 690 cTg/cAg 0 -UNC5C UCSF GRCh37 4 96166234 96166234 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 134 18 206 0 ENST00000453304.1:c.837G>A p.Gly279= p.G279= ENST00000453304 NM_003728.3 279 ggG/ggA 0 -UNC5D UCSF GRCh37 8 35648074 35648074 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 174 20 183 0 ENST00000404895.2:c.2855G>A p.Gly952Glu p.G952E ENST00000404895 NM_080872.2 952 gGa/gAa 0 -UNC79 UCSF GRCh37 14 94107551 94107551 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 21 210 0 ENST00000393151.2:c.5978C>T p.Pro1993Leu p.P1993L ENST00000393151 1993 cCt/cTt 0 -UNC79 UCSF GRCh37 14 94038423 94038423 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 5 68 0 ENST00000393151.2:c.1939G>A p.Val647Ile p.V647I ENST00000393151 647 Gta/Ata 0 -UNC80 UCSF GRCh37 2 210841652 210841652 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 6 54 0 ENST00000439458.1:c.8590G>A p.Ala2864Thr p.A2864T ENST00000439458 NM_032504.1 2864 Gca/Aca 0 -UNC80 UCSF GRCh37 2 210642283 210642283 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 14 109 0 ENST00000439458.1:c.600G>A p.Lys200= p.K200= ENST00000439458 NM_032504.1 200 aaG/aaA 0 -UPF3B UCSF GRCh37 X 118968844 118968844 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 47 238 0 ENST00000276201.2:c.1449G>A p.Glu483= p.E483= ENST00000276201 NM_080632.2 483 gaG/gaA 0 -UPK3B UCSF GRCh37 7 76142480 76142480 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 20 152 0 ENST00000257632.5:c.627-784G>A *209* ENST00000257632 0 -URB1 UCSF GRCh37 21 33691589 33691589 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 15 166 0 ENST00000382751.3:c.5730G>A p.Arg1910= p.R1910= ENST00000382751 NM_014825.2 1910 cgG/cgA 0 -UROD UCSF GRCh37 1 45478816 45478816 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 13 101 0 ENST00000246337.4:c.142G>A p.Glu48Lys p.E48K ENST00000246337 NM_000374.4 48 Gaa/Aaa 0 -USF1 UCSF GRCh37 1 161010078 161010078 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 19 164 0 ENST00000368020.1:c.757G>A p.Glu253Lys p.E253K ENST00000368020 NM_001276373.1 253 Gag/Aag 0 -USH2A UCSF GRCh37 1 216243514 216243514 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 65 260 0 ENST00000307340.3:c.5978G>A p.Ser1993Asn p.S1993N ENST00000307340 NM_206933.2 1993 aGt/aAt 0 -USH2A UCSF GRCh37 1 216373016 216373016 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 28 97 0 ENST00000307340.3:c.3764G>A p.Ser1255Asn p.S1255N ENST00000307340 NM_206933.2 1255 aGt/aAt 0 -USP24 UCSF GRCh37 1 55603253 55603253 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 18 131 0 ENST00000294383.6:c.3136G>A p.Asp1046Asn p.D1046N ENST00000294383 NM_015306.2 1046 Gat/Aat 0 -USP26 UCSF GRCh37 X 132159747 132159747 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 29 202 0 ENST00000370832.1:c.2502G>A p.Gly834= p.G834= ENST00000370832 NM_031907.1 834 ggG/ggA 0 -USP35 UCSF GRCh37 11 77921284 77921284 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 26 209 0 ENST00000529308.1:c.2383G>A p.Val795Met p.V795M ENST00000529308 NM_020798.2 795 Gtg/Atg 0 -USP36 UCSF GRCh37 17 76832208 76832208 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 7 49 0 ENST00000542802.3:c.238C>T p.Pro80Ser p.P80S ENST00000542802 80 Ccg/Tcg 0 -USP37 UCSF GRCh37 2 219324517 219324517 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 49 235 0 ENST00000258399.3:c.2639C>T p.Ala880Val p.A880V ENST00000258399 NM_020935.2 880 gCt/gTt 0 -USP38 UCSF GRCh37 4 144136024 144136024 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 72 250 0 ENST00000307017.4:c.2895G>A p.Trp965Ter p.W965* ENST00000307017 NM_032557.5 965 tgG/tgA 0 -USP42 UCSF GRCh37 7 6187440 6187440 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 20 169 0 ENST00000306177.5:c.1303C>T p.Pro435Ser p.P435S ENST00000306177 NM_032172.2 435 Ccc/Tcc 0 -USP43 UCSF GRCh37 17 9603504 9603504 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 13 94 0 ENST00000285199.7:c.1473G>A p.Arg491= p.R491= ENST00000285199 NM_001267576.1 491 agG/agA 0 -USP43 UCSF GRCh37 17 9631785 9631785 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 16 162 0 ENST00000285199.7:c.2850G>A p.Gln950= p.Q950= ENST00000285199 NM_001267576.1 950 caG/caA 0 -USP49 UCSF GRCh37 6 41774193 41774193 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 6 45 0 ENST00000373009.3:c.529G>A p.Ala177Thr p.A177T ENST00000373009 177 Gcc/Acc 0 -USP54 UCSF GRCh37 10 75289484 75289484 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 31 290 0 ENST00000339859.4:c.2014C>T p.Pro672Ser p.P672S ENST00000339859 672 Cct/Tct 0 -USP54 UCSF GRCh37 10 75276770 75276770 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 6 113 0 ENST00000339859.4:c.3414G>A p.Arg1138= p.R1138= ENST00000339859 1138 agG/agA 0 -USP54 UCSF GRCh37 10 75279635 75279635 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 3 43 0 ENST00000339859.4:c.2598G>A p.Gln866= p.Q866= ENST00000339859 866 caG/caA 0 -UTP20 UCSF GRCh37 12 101755786 101755786 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 41 114 0 ENST00000261637.4:c.5738C>T p.Thr1913Ile p.T1913I ENST00000261637 NM_014503.2 1913 aCc/aTc 0 -UTP20 UCSF GRCh37 12 101728261 101728261 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 9 46 0 ENST00000261637.4:c.3620G>A p.Ser1207Asn p.S1207N ENST00000261637 NM_014503.2 1207 aGt/aAt 0 -UTP20 UCSF GRCh37 12 101763522 101763522 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 9 99 0 ENST00000261637.4:c.6408C>T p.Cys2136= p.C2136= ENST00000261637 NM_014503.2 2136 tgC/tgT 0 -UTY UCSF GRCh37 Y 15409660 15409660 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 11 75 0 ENST00000331397.4:c.3646C>T p.Pro1216Ser p.P1216S ENST00000331397 NM_001258267.1 1216 Ccc/Tcc 0 -UVRAG UCSF GRCh37 11 75851986 75851986 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 50 186 0 ENST00000356136.3:c.1629G>A p.Lys543= p.K543= ENST00000356136 NM_003369.3 543 aaG/aaA 0 -VAC14 UCSF GRCh37 16 70796792 70796792 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 13 140 0 ENST00000261776.5:c.1297C>T p.Pro433Ser p.P433S ENST00000261776 NM_018052.3 433 Cct/Tct 0 -VARS UCSF GRCh37 6 31748671 31748671 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 16 176 0 ENST00000375663.3:c.2694G>A p.Glu898= p.E898= ENST00000375663 NM_006295.2 898 gaG/gaA 0 -VCAN UCSF GRCh37 5 82835603 82835603 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 243 41 378 0 ENST00000265077.3:c.6781G>A p.Glu2261Lys p.E2261K ENST00000265077 NM_004385.4 2261 Gaa/Aaa 0 -VDAC1 UCSF GRCh37 5 133309511 133309511 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 22 246 0 ENST00000265333.3:c.731G>A p.Gly244Asp p.G244D ENST00000265333 NM_003374.2 244 gGt/gAt 0 -VENTX UCSF GRCh37 10 135053573 135053573 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 34 292 0 ENST00000325980.9:c.540G>A p.Leu180= p.L180= ENST00000325980 NM_014468.3 180 ctG/ctA 0 -VEPH1 UCSF GRCh37 3 157034872 157034872 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 17 174 0 ENST00000362010.2:c.1854G>A p.Gln618= p.Q618= ENST00000362010 NM_001167912.1 618 caG/caA 0 -VGLL1 UCSF GRCh37 X 135630884 135630884 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 140 207 0 ENST00000370634.3:c.351G>A p.Pro117= p.P117= ENST00000370634 NM_016267.3 117 ccG/ccA 0 -VIL1 UCSF GRCh37 2 219301264 219301264 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 25 179 0 ENST00000248444.5:c.1886G>A p.Gly629Glu p.G629E ENST00000248444 NM_007127.2 629 gGg/gAg 0 -VMO1 UCSF GRCh37 17 4689332 4689332 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 219 38 292 0 ENST00000328739.5:c.211G>A p.Gly71Ser p.G71S ENST00000328739 NM_182566.2 71 Ggc/Agc 0 -VPRBP UCSF GRCh37 3 51475506 51475506 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 221 45 365 0 ENST00000504652.1:c.921G>A p.Met307Ile p.M307I ENST00000504652 307 atG/atA 0 -VPRBP UCSF GRCh37 3 51440740 51440740 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 373 79 565 0 ENST00000423656.1:c.3015G>A p.Glu1005= p.E1005= ENST00000423656 1005 gaG/gaA 0 -VPS13A UCSF GRCh37 9 79959108 79959108 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 12 200 0 ENST00000360280.3:c.7066C>T p.Leu2356Phe p.L2356F ENST00000360280 NM_033305.2 2356 Ctt/Ttt 0 -VPS13B UCSF GRCh37 8 100887766 100887766 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 21 214 0 ENST00000358544.2:c.11941G>A p.Val3981Met p.V3981M ENST00000358544 NM_017890.4 3981 Gtg/Atg 0 -VPS13C UCSF GRCh37 15 62237972 62237972 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 242 41 347 0 ENST00000261517.5:c.5090G>A p.Ser1697Asn p.S1697N ENST00000261517 NM_020821.2 1697 aGt/aAt 0 -VPS13D UCSF GRCh37 1 12327930 12327930 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 8 65 0 ENST00000358136.3:c.1754C>T p.Ser585Phe p.S585F ENST00000358136 NM_015378.2 585 tCt/tTt 0 -VPS13D UCSF GRCh37 1 12364765 12364765 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 8 74 0 ENST00000358136.3:c.6419G>A p.Gly2140Asp p.G2140D ENST00000358136 NM_015378.2 2140 gGc/gAc 0 -VPS39 UCSF GRCh37 15 42453941 42453941 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 16 211 0 ENST00000348544.4:c.2524G>A p.Val842Met p.V842M ENST00000348544 842 Gtg/Atg 0 -VPS45 UCSF GRCh37 1 150064042 150064042 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 14 106 0 ENST00000369130.3:c.1116G>A p.Arg372= p.R372= ENST00000369130 NM_001279354.1 372 agG/agA 0 -VPS4B UCSF GRCh37 18 61064452 61064452 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 20 303 0 ENST00000238497.5:c.907C>T p.Pro303Ser p.P303S ENST00000238497 NM_004869.3 303 Ccc/Tcc 0 -VSIG8 UCSF GRCh37 1 159828607 159828607 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 11 72 0 ENST00000368100.1:c.145G>A p.Asp49Asn p.D49N ENST00000368100 NM_001013661.1 49 Gac/Aac 0 -VWA3A UCSF GRCh37 16 22130344 22130344 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 6 76 0 ENST00000389398.5:c.1112A>G p.Glu371Gly p.E371G ENST00000389398 NM_173615.3 371 gAg/gGg 0 -VWF UCSF GRCh37 12 6101129 6101129 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 10 61 0 ENST00000261405.5:c.6654G>A p.Arg2218= p.R2218= ENST00000261405 NM_000552.3 2218 cgG/cgA 0 -WASL UCSF GRCh37 7 123336632 123336632 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 12 140 0 ENST00000223023.4:c.629+1G>A p.X210_splice ENST00000223023 NM_003941.3 0 -WBP4 UCSF GRCh37 13 41639412 41639412 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 15 132 0 ENST00000379487.3:c.251G>A p.Gly84Asp p.G84D ENST00000379487 NM_007187.3 84 gGc/gAc 0 -WBP5 UCSF GRCh37 X 102612721 102612721 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 31 82 0 ENST00000372656.3:c.109G>A p.Glu37Lys p.E37K ENST00000372656 NM_001006614.1 37 Gag/Aag 0 -WBSCR17 UCSF GRCh37 7 70853291 70853291 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 306 53 455 0 ENST00000333538.5:c.493C>T p.Leu165= p.L165= ENST00000333538 NM_022479.2 165 Ctg/Ttg 0 -WBSCR17 UCSF GRCh37 7 70885975 70885975 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 519 65 700 0 ENST00000333538.5:c.846C>T p.Asn282= p.N282= ENST00000333538 NM_022479.2 282 aaC/aaT 0 -WDFY3 UCSF GRCh37 4 85717804 85717804 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 15 186 0 ENST00000295888.4:c.3037G>A p.Glu1013Lys p.E1013K ENST00000295888 NM_014991.4 1013 Gaa/Aaa 0 -WDR11 UCSF GRCh37 10 122612079 122612079 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 24 191 0 ENST00000263461.6:c.130G>A p.Val44Ile p.V44I ENST00000263461 NM_018117.11 44 Gta/Ata 0 -WDR17 UCSF GRCh37 4 177061100 177061100 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 36 286 0 ENST00000280190.4:c.1489G>A p.Ala497Thr p.A497T ENST00000280190 497 Gca/Aca 0 -WDR34 UCSF GRCh37 9 131396082 131396082 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 26 172 0 ENST00000372715.2:c.1552G>A p.Glu518Lys p.E518K ENST00000372715 NM_052844.3 518 Gaa/Aaa 0 -WDR45 UCSF GRCh37 X 48933538 48933538 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 9 40 0 ENST00000376372.3:c.503G>A p.Ser168Asn p.S168N ENST00000376372 NM_001029896.1 168 aGt/aAt 0 -WDR5B UCSF GRCh37 3 122133933 122133933 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 240 38 344 0 ENST00000330689.4:c.443C>T p.Thr148Ile p.T148I ENST00000330689 NM_019069.3 148 aCt/aTt 0 -WDR6 UCSF GRCh37 3 49051328 49051328 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 113 293 0 ENST00000608424.1:c.2361C>T p.Thr787= p.T787= ENST00000608424 787 acC/acT 0 -WDR66 UCSF GRCh37 12 122389392 122389392 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 11 83 0 ENST00000288912.4:c.1276G>A p.Glu426Lys p.E426K ENST00000288912 NM_144668.5 426 Gag/Aag 0 -WDR83 UCSF GRCh37 19 12780631 12780631 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 12 94 0 ENST00000418543.3:c.27G>A p.Arg9= p.R9= ENST00000418543 NM_001099737.2 9 cgG/cgA 0 -WDR87 UCSF GRCh37 19 38376127 38376127 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 60 221 0 ENST00000303868.5:c.8067G>A p.Met2689Ile p.M2689I ENST00000303868 NM_031951.3 2689 atG/atA 0 -WDR90 UCSF GRCh37 16 711344 711344 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 27 207 0 ENST00000293879.4:c.3516C>T p.Val1172= p.V1172= ENST00000293879 1172 gtC/gtT 0 -WDR92 UCSF GRCh37 2 68384413 68384413 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 33 110 0 ENST00000295121.6:c.163G>A p.Asp55Asn p.D55N ENST00000295121 NM_138458.3 55 Gac/Aac 0 -WISP1 UCSF GRCh37 8 134239654 134239654 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 12 50 0 ENST00000250160.6:c.805G>A p.Ala269Thr p.A269T ENST00000250160 NM_003882.3 269 Gca/Aca 0 -WIZ UCSF GRCh37 19 15536149 15536149 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 7 44 0 ENST00000263381.7:c.1512G>A p.Glu504= p.E504= ENST00000263381 NM_021241.2 504 gaG/gaA 0 -WNK2 UCSF GRCh37 9 96024314 96024314 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 7 85 0 ENST00000297954.4:c.3285C>T p.Asn1095= p.N1095= ENST00000297954 NM_001282394.1 1095 aaC/aaT 0 -WNT11 UCSF GRCh37 11 75902790 75902790 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 4 36 0 ENST00000322563.3:c.708C>T p.Asp236= p.D236= ENST00000322563 NM_004626.2 236 gaC/gaT 0 -WNT8A UCSF GRCh37 5 137426465 137426465 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 16 128 1 ENST00000398754.1:c.759G>A p.Glu253= p.E253= ENST00000398754 NM_058244.2 253 gaG/gaA 0 -WRN UCSF GRCh37 8 30999288 30999288 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 7 73 0 ENST00000298139.5:c.3230C>T p.Pro1077Leu p.P1077L ENST00000298139 NM_000553.4 1077 cCt/cTt 0 -WRN UCSF GRCh37 8 31015035 31015035 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 7 34 0 ENST00000298139.5:c.3971C>T p.Pro1324Leu p.P1324L ENST00000298139 NM_000553.4 1324 cCc/cTc 0 -WRN UCSF GRCh37 8 30977791 30977791 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 21 163 0 ENST00000298139.5:c.2481C>T p.Gly827= p.G827= ENST00000298139 NM_000553.4 827 ggC/ggT 0 -XAB2 UCSF GRCh37 19 7684699 7684699 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 213 84 246 0 ENST00000358368.4:c.2440G>A p.Val814Ile p.V814I ENST00000358368 NM_020196.2 814 Gtc/Atc 0 -XKR7 UCSF GRCh37 20 30584969 30584969 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 218 35 277 0 ENST00000562532.2:c.1449G>A p.Glu483= p.E483= ENST00000562532 NM_001011718.1 483 gaG/gaA 0 -XPO4 UCSF GRCh37 13 21417107 21417107 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 8 90 0 ENST00000255305.6:c.654G>A p.Gln218= p.Q218= ENST00000255305 218 caG/caA 0 -XPO7 UCSF GRCh37 8 21856752 21856752 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 10 54 0 ENST00000252512.9:c.2579C>T p.Ala860Val p.A860V ENST00000252512 NM_015024.4 860 gCc/gTc 0 -XRCC3 UCSF GRCh37 14 104165783 104165783 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 26 122 0 ENST00000352127.7:c.692G>A p.Arg231Lys p.R231K ENST00000352127 NM_001100118.1 231 aGg/aAg 0 -XRN1 UCSF GRCh37 3 142131443 142131443 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 15 97 0 ENST00000264951.4:c.1656C>T p.Asp552= p.D552= ENST00000264951 NM_019001.3 552 gaC/gaT 0 -XYLT2 UCSF GRCh37 17 48432314 48432314 + missense_variant Missense_Mutation SNP A A T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 8 59 0 ENST00000017003.2:c.904A>T p.Ser302Cys p.S302C ENST00000017003 NM_022167.2 302 Agc/Tgc 0 -XYLT2 UCSF GRCh37 17 48434120 48434120 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 17 84 0 ENST00000017003.2:c.1731C>T p.Gly577= p.G577= ENST00000017003 NM_022167.2 577 ggC/ggT 0 -YARS2 UCSF GRCh37 12 32908188 32908188 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 12 64 0 ENST00000324868.8:c.621G>A p.Arg207= p.R207= ENST00000324868 NM_001040436.2 207 cgG/cgA 0 -YIF1B UCSF GRCh37 19 38799920 38799920 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 12 117 0 ENST00000339413.6:c.346G>A p.Asp116Asn p.D116N ENST00000339413 NM_001039673.2 116 Gac/Aac 0 -YME1L1 UCSF GRCh37 10 27420824 27420824 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 306 34 259 0 ENST00000326799.3:c.993C>T p.Val331= p.V331= ENST00000326799 NM_139312.2 331 gtC/gtT 0 -ZAN UCSF GRCh37 7 100391805 100391805 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 10 127 0 ENST00000546292.1:c.7850-1013C>T *2617* ENST00000546292 NM_173059.1 0 -ZBED4 UCSF GRCh37 22 50279926 50279926 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 9 157 0 ENST00000216268.5:c.2616G>A p.Glu872= p.E872= ENST00000216268 NM_014838.2 872 gaG/gaA 0 -ZBP1 UCSF GRCh37 20 56179653 56179653 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.012,1000g2011may_all_0.0614,snp132_rs6099680 P24_Rec2 Untested WXS Illumina HiSeq 275 40 402 0 ENST00000371173.3:c.1266G>A p.Gly422= p.G422= ENST00000371173 NM_001160417.1 422 ggG/ggA 0 -ZBTB10 UCSF GRCh37 8 81399803 81399803 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 266 34 356 0 ENST00000430430.1:c.758C>T p.Ser253Phe p.S253F ENST00000430430 253 tCc/tTc 0 -ZBTB2 UCSF GRCh37 6 151686972 151686972 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 372 68 540 0 ENST00000325144.4:c.1229G>A p.Cys410Tyr p.C410Y ENST00000325144 NM_020861.1 410 tGc/tAc 0 -ZBTB4 UCSF GRCh37 17 7365866 7365866 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 12 102 0 ENST00000311403.4:c.2435G>A p.Gly812Glu p.G812E ENST00000311403 NM_020899.3 812 gGg/gAg 0 -ZBTB4 UCSF GRCh37 17 7369919 7369919 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 15 53 0 ENST00000311403.4:c.202C>T p.Pro68Ser p.P68S ENST00000311403 NM_020899.3 68 Cca/Tca 0 -ZBTB45 UCSF GRCh37 19 59028727 59028727 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 189 30 215 0 ENST00000354590.3:c.314C>T p.Ala105Val p.A105V ENST00000354590 NM_032792.2 105 gCc/gTc 0 -ZBTB47 UCSF GRCh37 3 42701201 42701201 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 13 115 0 ENST00000232974.6:c.1354G>A p.Glu452Lys p.E452K ENST00000232974 452 Gag/Aag 0 -ZBTB47 UCSF GRCh37 3 42701253 42701253 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 10 83 0 ENST00000232974.6:c.1406G>A p.Gly469Asp p.G469D ENST00000232974 469 gGc/gAc 0 -ZBTB7A UCSF GRCh37 19 4054382 4054382 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 34 133 0 ENST00000322357.4:c.849G>A p.Leu283= p.L283= ENST00000322357 NM_015898.2 283 ctG/ctA 0 -ZC3H12B UCSF GRCh37 X 64718939 64718939 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 11 82 0 ENST00000338957.4:c.809G>A p.Arg270Lys p.R270K ENST00000338957 NM_001010888.3 270 aGa/aAa 0 -ZC3H12B UCSF GRCh37 X 64722305 64722305 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 50 223 1 ENST00000338957.4:c.1727C>T p.Ala576Val p.A576V ENST00000338957 NM_001010888.3 576 gCc/gTc 0 -ZC3H12C UCSF GRCh37 11 110007586 110007586 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 193 25 224 0 ENST00000278590.3:c.220G>A p.Gly74Arg p.G74R ENST00000278590 NM_033390.1 74 Ggg/Agg 0 -ZC3H12C UCSF GRCh37 11 110036273 110036273 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 218 30 261 0 ENST00000278590.3:c.2463G>A p.Arg821= p.R821= ENST00000278590 NM_033390.1 821 cgG/cgA 0 -ZC3H7B UCSF GRCh37 22 41745306 41745306 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 9 50 0 ENST00000352645.4:c.1948+1G>A p.X650_splice ENST00000352645 NM_017590.5 0 -ZC3HAV1 UCSF GRCh37 7 138761068 138761068 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 69 238 0 ENST00000242351.5:c.1661C>T p.Thr554Met p.T554M ENST00000242351 NM_020119.3 554 aCg/aTg 0 -ZC3HAV1L UCSF GRCh37 7 138720571 138720571 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 7 42 0 ENST00000275766.1:c.193G>A p.Ala65Thr p.A65T ENST00000275766 NM_080660.3 65 Gcc/Acc 0 -ZCCHC11 UCSF GRCh37 1 52991715 52991715 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 273 45 425 0 ENST00000371544.3:c.238C>T p.Leu80Phe p.L80F ENST00000371544 NM_015269.2 80 Ctt/Ttt 0 -ZCCHC2 UCSF GRCh37 18 60217659 60217659 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 13 136 0 ENST00000269499.5:c.1279G>A p.Glu427Lys p.E427K ENST00000269499 NM_017742.4 427 Gaa/Aaa 0 -ZCCHC3 UCSF GRCh37 20 279310 279310 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 44 122 0 ENST00000382352.3:c.1083G>A p.Gly361= p.G361= ENST00000382352 NM_033089.6 361 ggG/ggA 0 -ZDHHC13 UCSF GRCh37 11 19177349 19177349 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 34 320 0 ENST00000446113.2:c.880C>T p.Leu294= p.L294= ENST00000446113 NM_019028.2 294 Ctg/Ttg 0 -ZDHHC5 UCSF GRCh37 11 57467469 57467469 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 12 70 0 ENST00000287169.3:c.2114G>A p.Gly705Glu p.G705E ENST00000287169 NM_015457.2 705 gGg/gAg 0 -ZDHHC8 UCSF GRCh37 22 20132889 20132889 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 13 110 0 ENST00000334554.7:c.2264G>A p.Gly755Asp p.G755D ENST00000334554 NM_013373.3 755 gGc/gAc 0 -ZFHX2 UCSF GRCh37 14 24001885 24001885 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 167 23 226 0 ENST00000419474.3:c.2450C>T p.Ser817Phe p.S817F ENST00000419474 NM_033400.2 817 tCc/tTc 0 -ZFHX3 UCSF GRCh37 16 72829408 72829408 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 29 247 0 ENST00000268489.5:c.7173C>T p.Tyr2391= p.Y2391= ENST00000268489 NM_006885.3 2391 taC/taT 0 -ZFHX4 UCSF GRCh37 8 77619971 77619971 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 15 173 0 ENST00000521891.2:c.2781G>A p.Glu927= p.E927= ENST00000521891 NM_024721.4 927 gaG/gaA 0 -ZFP106 UCSF GRCh37 15 42743419 42743419 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 29 182 0 ENST00000263805.4:c.982G>A p.Asp328Asn p.D328N ENST00000263805 NM_022473.1 328 Gac/Aac 0 -ZFP36 UCSF GRCh37 19 39898603 39898603 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 214 27 270 1 ENST00000248673.3:c.245G>A p.Arg82His p.R82H ENST00000248673 NM_003407.3 82 cGc/cAc 0 -ZFP41 UCSF GRCh37 8 144332454 144332454 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 17 371 0 ENST00000330701.4:c.441G>A p.Glu147= p.E147= ENST00000330701 NM_173832.4 147 gaG/gaA 0 -ZFPM2 UCSF GRCh37 8 106814665 106814665 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 182 29 280 0 ENST00000407775.2:c.2355C>T p.His785= p.H785= ENST00000407775 NM_012082.3 785 caC/caT 0 -ZFYVE1 UCSF GRCh37 14 73464894 73464894 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 22 200 0 ENST00000556143.1:c.613C>T p.Arg205Cys p.R205C ENST00000556143 NM_021260.2 205 Cgt/Tgt 0 -ZFYVE26 UCSF GRCh37 14 68282515 68282515 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 11 77 0 ENST00000347230.4:c.166G>A p.Ala56Thr p.A56T ENST00000347230 NM_015346.3 56 Gca/Aca 0 -ZFYVE9 UCSF GRCh37 1 52811820 52811820 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 25 71 0 ENST00000287727.3:c.4205G>A p.Gly1402Glu p.G1402E ENST00000287727 NM_004799.3 1402 gGa/gAa 0 -ZG16B UCSF GRCh37 16 2881803 2881803 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 19 132 0 ENST00000382280.3:c.270G>A p.Gln90= p.Q90= ENST00000382280 NM_145252.2 90 caG/caA 0 -ZMYND15 UCSF GRCh37 17 4647099 4647099 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 13 105 0 ENST00000433935.1:c.1335C>T p.Ala445= p.A445= ENST00000433935 NM_001136046.2 445 gcC/gcT 0 -ZNF117 UCSF GRCh37 7 64438752 64438752 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 14 123 0 ENST00000282869.6:c.1197C>T p.His399= p.H399= ENST00000282869 NM_015852.3 399 caC/caT 0 -ZNF132 UCSF GRCh37 19 58945830 58945830 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 11 99 0 ENST00000254166.3:c.981C>T p.Thr327= p.T327= ENST00000254166 NM_003433.3 327 acC/acT 0 -ZNF155 UCSF GRCh37 19 44500799 44500799 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 22 171 0 ENST00000270014.2:c.790G>A p.Ala264Thr p.A264T ENST00000270014 NM_198089.2 264 Gca/Aca 0 -ZNF177 UCSF GRCh37 19 9491788 9491788 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 23 206 0 ENST00000589262.1:c.781C>T p.His261Tyr p.H261Y ENST00000589262 NM_001172651.1 261 Cat/Tat 0 -ZNF180 UCSF GRCh37 19 44981244 44981244 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 12 144 0 ENST00000221327.4:c.1454G>A p.Arg485Lys p.R485K ENST00000221327 NM_013256.4 485 aGa/aAa 0 -ZNF185 UCSF GRCh37 X 152100223 152100223 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 8 83 0 ENST00000370268.4:c.922C>T p.Pro308Ser p.P308S ENST00000370268 308 Cca/Tca 0 -ZNF185 UCSF GRCh37 X 152083371 152083371 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 2 12 17 0 ENST00000370268.4:c.152G>A p.Arg51His p.R51H ENST00000370268 51 cGc/cAc 0 -ZNF192 UCSF GRCh37 6 28116521 28116521 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 15 166 0 ENST00000330236.6:c.336G>A p.Lys112= p.K112= ENST00000330236 NM_001278122.1 112 aaG/aaA 0 -ZNF20 UCSF GRCh37 19 12244492 12244492 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 598 67 626 0 ENST00000334213.5:c.509C>T p.Pro170Leu p.P170L ENST00000334213 NM_001203250.1 170 cCc/cTc 0 -ZNF229 UCSF GRCh37 19 44933981 44933981 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 106 465 0 ENST00000588931.1:c.975G>A p.Glu325= p.E325= ENST00000588931 NM_014518.2 325 gaG/gaA 0 -ZNF24 UCSF GRCh37 18 32920385 32920385 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 16 136 0 ENST00000261332.6:c.230G>A p.Cys77Tyr p.C77Y ENST00000261332 NM_006965.2 77 tGc/tAc 0 -ZNF24 UCSF GRCh37 18 32920566 32920566 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 33 245 0 ENST00000261332.6:c.49C>T p.Pro17Ser p.P17S ENST00000261332 NM_006965.2 17 Cca/Tca 0 -ZNF24 UCSF GRCh37 18 32917559 32917559 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 34 289 0 ENST00000261332.6:c.744G>A p.Lys248= p.K248= ENST00000261332 NM_006965.2 248 aaG/aaA 0 -ZNF253 UCSF GRCh37 19 20003111 20003111 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 3 25 0 ENST00000589717.1:c.1055C>T p.Ser352Phe p.S352F ENST00000589717 NM_021047.2 352 tCc/tTc 0 -ZNF253 UCSF GRCh37 19 20003434 20003434 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 4 14 0 ENST00000589717.1:c.1378G>A p.Ala460Thr p.A460T ENST00000589717 NM_021047.2 460 Gct/Act 0 -ZNF259 UCSF GRCh37 11 116654325 116654325 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 21 112 0 ENST00000227322.3:c.902G>A p.Gly301Glu p.G301E ENST00000227322 NM_003904.3 301 gGa/gAa 0 -ZNF276 UCSF GRCh37 16 89790020 89790020 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.011,1000g2011may_all_0.0260,snp132_rs34629175 P24_Rec2 Untested WXS Illumina HiSeq 32 6 95 0 ENST00000443381.2:c.909C>T p.Pro303= p.P303= ENST00000443381 NM_001113525.1 303 ccC/ccT 0 -ZNF286A UCSF GRCh37 17 15611511 15611511 + missense_variant,NMD_transcript_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 7 94 0 ENST00000413242.2:c.284G>A p.Gly95Glu p.G95E ENST00000413242 95 gGa/gAa 0 -ZNF287 UCSF GRCh37 17 16456713 16456713 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 16 165 0 ENST00000395824.1:c.743C>T p.Thr248Ile p.T248I ENST00000395824 248 aCt/aTt 0 -ZNF292 UCSF GRCh37 6 87966064 87966064 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 215 31 294 0 ENST00000369577.3:c.2717C>T p.Ser906Phe p.S906F ENST00000369577 NM_015021.1 906 tCt/tTt 0 -ZNF295 UCSF GRCh37 21 43412147 43412147 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 144 21 195 0 ENST00000310826.5:c.2058G>A p.Lys686= p.K686= ENST00000310826 NM_001098402.1 686 aaG/aaA 0 -ZNF296 UCSF GRCh37 19 45575741 45575741 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 10 100 0 ENST00000303809.2:c.546G>A p.Leu182= p.L182= ENST00000303809 NM_145288.1 182 ctG/ctA 0 -ZNF318 UCSF GRCh37 6 43306112 43306112 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 164 37 234 0 ENST00000361428.2:c.5624G>A p.Arg1875Lys p.R1875K ENST00000361428 NM_014345.2 1875 aGg/aAg 0 -ZNF318 UCSF GRCh37 6 43323442 43323442 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 335 68 486 0 ENST00000361428.2:c.1630G>A p.Glu544Lys p.E544K ENST00000361428 NM_014345.2 544 Gag/Aag 0 -ZNF343 UCSF GRCh37 20 2463888 2463888 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 276 42 392 0 ENST00000278772.4:c.1719G>A p.Gly573= p.G573= ENST00000278772 NM_024325.4 573 ggG/ggA 0 -ZNF35 UCSF GRCh37 3 44694194 44694194 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 6 71 0 ENST00000396056.2:c.337+1G>A p.X113_splice ENST00000396056 NM_003420.3 0 -ZNF385C UCSF GRCh37 17 40183686 40183686 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 30 142 0 ENST00000436535.3:c.627C>T p.Ser209= p.S209= ENST00000436535 209 tcC/tcT 0 -ZNF396 UCSF GRCh37 18 32953488 32953488 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 7 70 0 ENST00000589332.1:c.494G>A p.Ser165Asn p.S165N ENST00000589332 165 aGc/aAc 0 -ZNF407 UCSF GRCh37 18 72775186 72775186 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 27 232 0 ENST00000299687.5:c.5509G>A p.Ala1837Thr p.A1837T ENST00000299687 NM_017757.2 1837 Gcg/Acg 0 -ZNF414 UCSF GRCh37 19 8576704 8576704 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 7 26 0 ENST00000255616.8:c.671C>T p.Pro224Leu p.P224L ENST00000255616 NM_032370.2 224 cCg/cTg 0 -ZNF418 UCSF GRCh37 19 58437815 58437815 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 20 224 0 ENST00000396147.1:c.1734C>T p.Leu578= p.L578= ENST00000396147 NM_133460.1 578 ctC/ctT 0 -ZNF439 UCSF GRCh37 19 11979318 11979318 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 9 88 0 ENST00000304030.2:c.1434C>T p.Val478= p.V478= ENST00000304030 NM_152262.2 478 gtC/gtT 0 -ZNF44 UCSF GRCh37 19 12384680 12384680 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 395 44 420 0 ENST00000356109.5:c.534C>T p.His178= p.H178= ENST00000356109 NM_001164276.1 178 caC/caT 0 -ZNF460 UCSF GRCh37 19 57802913 57802913 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 23 202 0 ENST00000360338.3:c.1004C>T p.Pro335Leu p.P335L ENST00000360338 NM_006635.3 335 cCc/cTc 0 -ZNF48 UCSF GRCh37 16 30409691 30409691 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 399 75 496 0 ENST00000320159.2:c.1120C>T p.Leu374Phe p.L374F ENST00000320159 NM_152652.2 374 Ctt/Ttt 0 -ZNF496 UCSF GRCh37 1 247492641 247492641 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 18 151 0 ENST00000294753.4:c.240G>A p.Gln80= p.Q80= ENST00000294753 NM_032752.1 80 caG/caA 0 -ZNF513 UCSF GRCh37 2 27601401 27601401 + synonymous_variant Silent SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 22 78 0 ENST00000323703.6:c.732T>C p.Cys244= p.C244= ENST00000323703 NM_144631.5 244 tgT/tgC 0 -ZNF517 UCSF GRCh37 8 146033708 146033708 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 9 65 0 ENST00000359971.3:c.1407G>A p.Gln469= p.Q469= ENST00000359971 NM_213605.2 469 caG/caA 0 -ZNF518B UCSF GRCh37 4 10445190 10445190 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 208 32 277 1 ENST00000326756.3:c.2763G>A p.Arg921= p.R921= ENST00000326756 NM_053042.2 921 agG/agA 0 -ZNF521 UCSF GRCh37 18 22805963 22805963 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 30 217 0 ENST00000361524.3:c.1919G>A p.Gly640Asp p.G640D ENST00000361524 NM_015461.2 640 gGt/gAt 0 -ZNF526 UCSF GRCh37 19 42729057 42729057 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 269 37 377 0 ENST00000301215.3:c.502G>A p.Val168Ile p.V168I ENST00000301215 NM_133444.1 168 Gta/Ata 0 -ZNF543 UCSF GRCh37 19 57839308 57839308 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 29 196 0 ENST00000321545.4:c.478G>A p.Asp160Asn p.D160N ENST00000321545 NM_213598.3 160 Gat/Aat 0 -ZNF544 UCSF GRCh37 19 58757770 58757770 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.010,1000g2011may_all_0.00554 P24_Rec2 Untested WXS Illumina HiSeq 81 14 79 0 ENST00000269829.4:c.137C>T p.Thr46Ile p.T46I ENST00000269829 NM_014480.2 46 aCc/aTc 0 -ZNF544 UCSF GRCh37 19 58772931 58772931 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 40 238 0 ENST00000269829.4:c.959G>A p.Gly320Asp p.G320D ENST00000269829 NM_014480.2 320 gGc/gAc 0 -ZNF546 UCSF GRCh37 19 40521124 40521124 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 8 67 0 ENST00000347077.4:c.1947C>T p.Ser649= p.S649= ENST00000347077 NM_178544.3 649 agC/agT 0 -ZNF552 UCSF GRCh37 19 58319917 58319917 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 80 263 0 ENST00000391701.1:c.715C>T p.Pro239Ser p.P239S ENST00000391701 NM_024762.3 239 Cct/Tct 0 -ZNF563 UCSF GRCh37 19 12429560 12429560 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 5 54 0 ENST00000293725.5:c.1279G>A p.Gly427Arg p.G427R ENST00000293725 NM_145276.2 427 Ggg/Agg 0 -ZNF571 UCSF GRCh37 19 38056308 38056308 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 10 75 0 ENST00000328550.2:c.1022G>A p.Gly341Glu p.G341E ENST00000328550 341 gGg/gAg 0 -ZNF573 UCSF GRCh37 19 38230154 38230154 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 20 239 0 ENST00000536220.1:c.973C>T p.Pro325Ser p.P325S ENST00000536220 NM_001172689.1 325 Ccc/Tcc 0 -ZNF574 UCSF GRCh37 19 42584099 42584099 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 21 211 0 ENST00000359044.4:c.1341C>T p.Ala447= p.A447= ENST00000359044 NM_022752.5 447 gcC/gcT 0 -ZNF577 UCSF GRCh37 19 52376415 52376415 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 212 36 340 0 ENST00000301399.5:c.828G>A p.Gly276= p.G276= ENST00000301399 NM_032679.2 276 ggG/ggA 0 -ZNF585B UCSF GRCh37 19 37680656 37680656 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 298 55 509 0 ENST00000532828.2:c.200-1G>A p.X67_splice ENST00000532828 NM_152279.3 0 -ZNF593 UCSF GRCh37 1 26496631 26496631 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 24 204 0 ENST00000374266.5:c.157C>T p.Pro53Ser p.P53S ENST00000374266 NM_015871.4 53 Ccc/Tcc 0 -ZNF599 UCSF GRCh37 19 35250905 35250905 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 8 93 0 ENST00000329285.8:c.801G>A p.Arg267= p.R267= ENST00000329285 NM_001007248.2 267 agG/agA 0 -ZNF609 UCSF GRCh37 15 64967341 64967341 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 204 36 294 0 ENST00000326648.3:c.2288C>T p.Ser763Phe p.S763F ENST00000326648 NM_015042.1 763 tCt/tTt 0 -ZNF613 UCSF GRCh37 19 52448084 52448084 + synonymous_variant Silent SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 239 30 358 0 ENST00000293471.6:c.948T>C p.His316= p.H316= ENST00000293471 NM_001031721.3 316 caT/caC 0 -ZNF618 UCSF GRCh37 9 116778436 116778436 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 12 113 0 ENST00000374126.5:c.755-539G>A *252* ENST00000374126 0 -ZNF649 UCSF GRCh37 19 52394838 52394838 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 357 57 541 0 ENST00000354957.3:c.551G>A p.Gly184Glu p.G184E ENST00000354957 NM_023074.3 184 gGg/gAg 0 -ZNF662 UCSF GRCh37 3 42956793 42956793 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 187 110 427 0 ENST00000440367.2:c.1228C>T p.His410Tyr p.H410Y ENST00000440367 NM_207404.3 410 Cat/Tat 0 -ZNF689 UCSF GRCh37 16 30615959 30615959 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 8 77 0 ENST00000287461.3:c.1129G>A p.Asp377Asn p.D377N ENST00000287461 NM_138447.2 377 Gac/Aac 0 -ZNF692 UCSF GRCh37 1 249151525 249151525 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 22 106 0 ENST00000306601.4:c.383C>T p.Pro128Leu p.P128L ENST00000306601 NM_017865.3 128 cCt/cTt 0 -ZNF699 UCSF GRCh37 19 9415792 9415792 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 22 194 0 ENST00000308650.3:c.4G>A p.Glu2Lys p.E2K ENST00000308650 NM_198535.1 2 Gag/Aag 0 -ZNF700 UCSF GRCh37 19 12059222 12059222 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 4 34 0 ENST00000254321.5:c.383G>A p.Ser128Asn p.S128N ENST00000254321 NM_144566.2 128 aGc/aAc 0 -ZNF709 UCSF GRCh37 19 12575879 12575879 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 28 97 0 ENST00000397732.3:c.857G>A p.Gly286Asp p.G286D ENST00000397732 NM_152601.3 286 gGt/gAt 0 -ZNF711 UCSF GRCh37 X 84525896 84525896 + missense_variant Missense_Mutation SNP G G C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 36 64 0 ENST00000276123.3:c.1348G>C p.Glu450Gln p.E450Q ENST00000276123 450 Gaa/Caa 0 -ZNF74 UCSF GRCh37 22 20754989 20754989 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 31 249 0 ENST00000400451.2:c.188C>T p.Pro63Leu p.P63L ENST00000400451 NM_003426.3 63 cCt/cTt 0 -ZNF768 UCSF GRCh37 16 30536258 30536258 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 10 96 0 ENST00000380412.5:c.1203C>T p.Phe401= p.F401= ENST00000380412 NM_024671.3 401 ttC/ttT 0 -ZNF770 UCSF GRCh37 15 35274747 35274747 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 146 600 0 ENST00000356321.4:c.889C>T p.Pro297Ser p.P297S ENST00000356321 NM_014106.3 297 Cca/Tca 0 -ZNF776 UCSF GRCh37 19 58265946 58265946 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 12 91 0 ENST00000317178.5:c.1448C>T p.Ser483Phe p.S483F ENST00000317178 NM_173632.3 483 tCt/tTt 0 -ZNF777 UCSF GRCh37 7 149152608 149152608 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 20 173 0 ENST00000247930.4:c.506C>T p.Ser169Phe p.S169F ENST00000247930 NM_015694.2 169 tCt/tTt 0 -ZNF780A UCSF GRCh37 19 40580810 40580810 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 16 141 0 ENST00000340963.5:c.1539C>T p.Tyr513= p.Y513= ENST00000340963 513 taC/taT 0 -ZNF783 UCSF GRCh37 7 148963769 148963769 + missense_variant,NMD_transcript_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 10 45 0 ENST00000378052.1:c.368G>A p.Arg123Lys p.R123K ENST00000378052 123 aGg/aAg 0 -ZNF785 UCSF GRCh37 16 30594687 30594687 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 24 324 1 ENST00000395216.2:c.412G>A p.Val138Ile p.V138I ENST00000395216 NM_152458.6 138 Gtc/Atc 0 -ZNF827 UCSF GRCh37 4 146824083 146824083 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 22 249 0 ENST00000508784.1:c.328G>A p.Asp110Asn p.D110N ENST00000508784 110 Gac/Aac 0 -ZNF835 UCSF GRCh37 19 57175523 57175523 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 70 170 0 ENST00000537055.2:c.1044C>T p.His348= p.H348= ENST00000537055 NM_001005850.2 348 caC/caT 0 -ZNF836 UCSF GRCh37 19 52660772 52660772 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 13 149 0 ENST00000597252.1:c.164C>T p.Thr55Ile p.T55I ENST00000597252 55 aCc/aTc 0 -ZNF850 UCSF GRCh37 19 37253264 37253264 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 7 51 0 ENST00000591344.1:c.82C>T p.Gln28Ter p.Q28* ENST00000591344 NM_001193552.1 28 Cag/Tag 0 -ZNF91 UCSF GRCh37 19 23542428 23542428 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 17 3 12 0 ENST00000300619.7:c.3353C>T p.Ser1118Phe p.S1118F ENST00000300619 NM_003430.2 1118 tCc/tTc 0 -ZNF91 UCSF GRCh37 19 23543844 23543844 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 4 24 0 ENST00000300619.7:c.1937C>T p.Ala646Val p.A646V ENST00000300619 NM_003430.2 646 gCt/gTt 0 -ZNF92 UCSF GRCh37 7 64864293 64864293 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 6 38 0 ENST00000328747.7:c.1266G>A p.Glu422= p.E422= ENST00000328747 NM_152626.2 422 gaG/gaA 0 -ZNFX1 UCSF GRCh37 20 47887104 47887104 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 309 50 471 0 ENST00000371752.1:c.1245G>A p.Arg415= p.R415= ENST00000371752 415 agG/agA 0 -ZSCAN2 UCSF GRCh37 15 85147240 85147240 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 8 40 0 ENST00000448803.2:c.82G>A p.Glu28Lys p.E28K ENST00000448803 NM_181877.3 28 Gag/Aag 0 -ZSCAN2 UCSF GRCh37 15 85164314 85164314 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 15 111 0 ENST00000448803.2:c.888C>T p.His296= p.H296= ENST00000448803 NM_181877.3 296 caC/caT 0 -ZSCAN2 UCSF GRCh37 15 85164869 85164869 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 7 93 0 ENST00000448803.2:c.1443G>A p.Glu481= p.E481= ENST00000448803 NM_181877.3 481 gaG/gaA 0 -ZSCAN20 UCSF GRCh37 1 33954780 33954780 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 29 152 0 ENST00000361328.3:c.670G>A p.Ala224Thr p.A224T ENST00000361328 NM_145238.3 224 Gct/Act 0 -ZSCAN29 UCSF GRCh37 15 43656390 43656390 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 27 233 0 ENST00000396976.2:c.1413C>T p.Ser471= p.S471= ENST00000396976 NM_152455.3 471 agC/agT 0 -ZSCAN5A UCSF GRCh37 19 56733157 56733157 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 12 97 0 ENST00000391713.1:c.1278C>T p.Tyr426= p.Y426= ENST00000391713 NM_024303.1 426 taC/taT 0 -ZW10 UCSF GRCh37 11 113619026 113619026 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 210 26 340 0 ENST00000200135.3:c.1042G>A p.Val348Ile p.V348I ENST00000200135 NM_004724.3 348 Gtt/Att 0 -ABCA4 UCSF GRCh37 1 94497337 94497337 + synonymous_variant Silent SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 39 21 56 0 ENST00000370225.3:c.4125G>A p.Ala1375= p.A1375= ENST00000370225 NM_000350.2 1375 gcG/gcA 0 -ATRX UCSF GRCh37 X 76918873 76918874 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL TT TT - NOVEL P25_Pri Untested WXS Illumina HiSeq 33 0 ENST00000373344.5:c.4117_4118del p.Lys1373GlyfsTer4 p.K1373Gfs*4 ENST00000373344 NM_000489.3 1373 AAg/g 0 -CCNA1 UCSF GRCh37 13 37007335 37007335 + stop_gained Nonsense_Mutation SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 48 47 110 0 ENST00000255465.4:c.274C>T p.Gln92Ter p.Q92* ENST00000255465 92 Cag/Tag 0 -CDHR5 UCSF GRCh37 11 618683 618683 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.023,1000g2011may_all_0.0158 P25_Pri Untested WXS Illumina HiSeq 39 6 37 1 ENST00000358353.3:c.1876A>G p.Thr626Ala p.T626A ENST00000358353 626 Acc/Gcc 0 -CFHR4 UCSF GRCh37 1 196876134 196876134 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 51 38 92 0 ENST00000367416.2:c.580G>A p.Glu194Lys p.E194K ENST00000367416 NM_001201551.1 194 Gaa/Aaa 0 -DNAJC11 UCSF GRCh37 1 6727803 6727804 + frameshift_variant Frame_Shift_Del DEL TC TC - 1000g2010nov_all P25_Pri Untested WXS Illumina HiSeq 8 0 ENST00000377577.5:c.343_344delGA p.Glu115ArgfsTer25 p.E115Rfs*25 ENST00000377577 NM_018198.3 115 GAa/a 0 -FAM48A UCSF GRCh37 13 37583915 37583915 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Pri Untested WXS Illumina HiSeq 48 10 60 0 ENST00000350612.6:c.2234T>C p.Met745Thr p.M745T ENST00000350612 NM_001014286.2 745 aTg/aCg 0 -GSDMD UCSF GRCh37 8 144641513 144641513 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 90 69 146 0 ENST00000262580.4:c.8C>T p.Ser3Leu p.S3L ENST00000262580 NM_024736.6 3 tCg/tTg 0 -HIVEP2 UCSF GRCh37 6 143092015 143092015 + synonymous_variant Silent SNP C C G NOVEL P25_Pri Untested WXS Illumina HiSeq 435 310 810 0 ENST00000012134.2:c.3861G>C p.Gly1287= p.G1287= ENST00000012134 1287 ggG/ggC 0 -HOOK3 UCSF GRCh37 8 42819516 42819519 + frameshift_variant Frame_Shift_Del DEL ACTC ACTC - NOVEL P25_Pri Untested WXS Illumina HiSeq 217 0 ENST00000307602.4:c.679_682del p.Leu227IlefsTer6 p.L227Ifs*6 ENST00000307602 NM_032410.3 226 agACTC/ag 0 -HS6ST1 UCSF GRCh37 2 129075919 129075919 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0243,snp132_rs61732019 P25_Pri Untested WXS Illumina HiSeq 11 4 28 1 ENST00000259241.6:c.219C>T p.Arg73= p.R73= ENST00000259241 NM_004807.2 73 cgC/cgT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 20 19 35 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IFNAR2 UCSF GRCh37 21 34635055 34635084 + intron_variant Intron DEL ACAGCTGATACGGACTCTCTCTCTCTTTTT ACAGCTGATACGGACTCTCTCTCTCTTTTT TACAGCTGATATGGACTCTCTCTCTC NOVEL P25_Pri Untested WXS Illumina HiSeq 31 0 ENST00000342136.4:c.841-43_841-14delinsTACAGCTGATATGGACTCTCTCTCTC *281* ENST00000342136 0 -KIAA1524 UCSF GRCh37 3 108276093 108276093 + missense_variant Missense_Mutation SNP T T A NOVEL P25_Pri Untested WXS Illumina HiSeq 64 28 103 0 ENST00000295746.8:c.2182A>T p.Thr728Ser p.T728S ENST00000295746 NM_020890.2 728 Aca/Tca 0 -KRT75 UCSF GRCh37 12 52825420 52825420 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 129 87 202 0 ENST00000252245.5:c.777C>T p.Asp259= p.D259= ENST00000252245 NM_004693.2 259 gaC/gaT 0 -MFSD7 UCSF GRCh37 4 680052 680052 + missense_variant Missense_Mutation SNP G G C NOVEL P25_Pri Untested WXS Illumina HiSeq 60 26 58 0 ENST00000404286.2:c.334C>G p.Leu112Val p.L112V ENST00000404286 NM_032219.2 112 Cta/Gta 0 -MFSD7 UCSF GRCh37 4 679684 679684 + synonymous_variant Silent SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 316 136 294 0 ENST00000404286.2:c.525C>T p.Val175= p.V175= ENST00000404286 NM_032219.2 175 gtC/gtT 0 -MUC16 UCSF GRCh37 19 9065233 9065233 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Pri Untested WXS Illumina HiSeq 100 77 162 1 ENST00000397910.4:c.22213T>C p.Ser7405Pro p.S7405P ENST00000397910 NM_024690.2 7405 Tct/Cct 0 -NAGS UCSF GRCh37 17 42084844 42084844 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 81 42 72 0 ENST00000293404.3:c.1250C>T p.Ser417Phe p.S417F ENST00000293404 NM_153006.2 417 tCc/tTc 0 -NOTCH4 UCSF GRCh37 6 32169238 32169238 + synonymous_variant Silent SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 126 123 222 0 ENST00000375023.3:c.3795C>T p.Asn1265= p.N1265= ENST00000375023 NM_004557.3 1265 aaC/aaT 0 -NRXN1 UCSF GRCh37 2 50464102 50464102 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 116 40 176 0 ENST00000406316.2:c.3371C>T p.Thr1124Met p.T1124M ENST00000406316 NM_004801.4 1124 aCg/aTg 0 -NSRP1 UCSF GRCh37 17 28506119 28506119 + missense_variant Missense_Mutation SNP T T G NOVEL P25_Pri Untested WXS Illumina HiSeq 8 7 9 0 ENST00000247026.5:c.312T>G p.Ile104Met p.I104M ENST00000247026 NM_032141.3 104 atT/atG 0 -NXF1 UCSF GRCh37 11 62564841 62564841 + synonymous_variant Silent SNP G G T NOVEL P25_Pri Untested WXS Illumina HiSeq 25 32 52 0 ENST00000294172.2:c.1071C>A p.Pro357= p.P357= ENST00000294172 NM_006362.4 357 ccC/ccA 0 -ODZ3 UCSF GRCh37 4 183574952 183574952 + missense_variant Missense_Mutation SNP G G C NOVEL P25_Pri Untested WXS Illumina HiSeq 209 128 384 0 ENST00000511685.1:c.1017G>C p.Gln339His p.Q339H ENST00000511685 339 caG/caC 0 -OGFR UCSF GRCh37 20 61441865 61441865 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 101 44 134 0 ENST00000290291.6:c.413G>A p.Arg138Gln p.R138Q ENST00000290291 NM_007346.2 138 cGa/cAa 0 -OR13C8 UCSF GRCh37 9 107332403 107332403 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 80 9 81 0 ENST00000335040.1:c.955G>A p.Gly319Arg p.G319R ENST00000335040 NM_001004483.1 319 Gga/Aga 0 -OR2M7 UCSF GRCh37 1 248487504 248487504 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Pri Untested WXS Illumina HiSeq 12 2 22 0 ENST00000317965.2:c.367T>C p.Tyr123His p.Y123H ENST00000317965 NM_001004691.1 123 Tac/Cac 0 -PCDHB7 UCSF GRCh37 5 140553940 140553940 + synonymous_variant Silent SNP G G A snp132_rs17844458 P25_Pri Untested WXS Illumina HiSeq 14 7 9 0 ENST00000231137.3:c.1524G>A p.Ala508= p.A508= ENST00000231137 NM_018940.2 508 gcG/gcA 0 -PDE6B UCSF GRCh37 4 659088 659088 + synonymous_variant Silent SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 61 31 75 0 ENST00000496514.1:c.2238G>A p.Leu746= p.L746= ENST00000496514 746 ttG/ttA 0 -PUS10 UCSF GRCh37 2 61181117 61181117 + missense_variant Missense_Mutation SNP T T C NOVEL P25_Pri Untested WXS Illumina HiSeq 172 55 214 0 ENST00000316752.6:c.1141A>G p.Asn381Asp p.N381D ENST00000316752 NM_144709.2 381 Aat/Gat 0 -PYCR2 UCSF GRCh37 1 226108161 226108163 + inframe_deletion In_Frame_Del DEL CTT CTT - NOVEL P25_Pri Untested WXS Illumina HiSeq 7 0 ENST00000343818.6:c.955_957del p.Lys319del p.K319del ENST00000343818 NM_013328.3 319 AAG/- 0 -QRICH2 UCSF GRCh37 17 74288509 74288510 + inframe_insertion In_Frame_Ins INS - - CTGCACCAGGTTGGACCAAACCACGCTGAT NOVEL P25_Pri Untested WXS Illumina HiSeq 9 0 ENST00000262765.5:c.1800_1801insATCAGCGTGGTTTGGTCCAACCTGGTGCAG p.Ala600_Asp601insIleSerValValTrpSerAsnLeuValGln p.A600_D601insISVVWSNLVQ ENST00000262765 NM_032134.1 600 -/ATCAGCGTGGTTTGGTCCAACCTGGTGCAG 0 -RPS6KC1 UCSF GRCh37 1 213415490 213415492 + inframe_deletion In_Frame_Del DEL AAA AAA - NOVEL P25_Pri Untested WXS Illumina HiSeq 7 0 ENST00000366960.3:c.2674_2676del p.Lys892del p.K892del ENST00000366960 NM_012424.3 891 AAA/- 0 -SLC23A2 UCSF GRCh37 20 4850569 4850570 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P25_Pri Untested WXS Illumina HiSeq 13 0 ENST00000338244.1:c.1233dup p.Ile412HisfsTer18 p.I412Hfs*18 ENST00000338244 NM_005116.5 411 ccc/ccCc 0 -SLC9A1 UCSF GRCh37 1 27440317 27440317 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 142 17 142 0 ENST00000263980.3:c.813G>A p.Val271= p.V271= ENST00000263980 NM_003047.4 271 gtG/gtA 0 -SPEN UCSF GRCh37 1 16257644 16257644 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 128 131 237 0 ENST00000375759.3:c.4909G>A p.Val1637Ile p.V1637I ENST00000375759 NM_015001.2 1637 Gtt/Att 0 -STXBP5 UCSF GRCh37 6 147648347 147648347 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Pri Untested WXS Illumina HiSeq 41 36 94 0 ENST00000321680.6:c.2015A>G p.Tyr672Cys p.Y672C ENST00000321680 NM_001127715.2 672 tAt/tGt 0 -TCF12 UCSF GRCh37 15 57524581 57524582 + frameshift_variant Frame_Shift_Del DEL AT AT - NOVEL P25_Pri Untested WXS Illumina HiSeq 13 0 ENST00000267811.5:c.778_779del p.Met260ValfsTer5 p.M260Vfs*5 ENST00000267811 NM_003205.3 260 ATg/g 0 -TEP1 UCSF GRCh37 14 20871601 20871601 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 148 26 131 0 ENST00000262715.5:c.1201G>A p.Glu401Lys p.E401K ENST00000262715 NM_007110.4 401 Gag/Aag 0 -THAP5 UCSF GRCh37 7 108205526 108205526 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P25_Pri Untested WXS Illumina HiSeq 10 0 ENST00000415914.3:c.297delA p.Lys99AsnfsTer25 p.K99Nfs*25 ENST00000415914 NM_001130475.1 99 aaA/aa 0 -TRPM1 UCSF GRCh37 15 31334362 31334362 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.012,1000g2011may_all_0.02529,snp132_rs17815774 P25_Pri Untested WXS Illumina HiSeq 91 49 186 0 ENST00000397795.2:c.1813G>A p.Val605Met p.V605M ENST00000397795 NM_002420.5 605 Gtg/Atg 0 -VPS35 UCSF GRCh37 16 46706301 46706301 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Pri Untested WXS Illumina HiSeq 119 16 360 0 ENST00000299138.7:c.1244T>C p.Val415Ala p.V415A ENST00000299138 NM_018206.4 415 gTc/gCc 0 -YARS UCSF GRCh37 1 33245060 33245060 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 173 170 343 0 ENST00000373477.4:c.1399G>A p.Val467Met p.V467M ENST00000373477 NM_003680.3 467 Gtg/Atg 0 -YES1 UCSF GRCh37 18 756607 756607 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 75 47 138 0 ENST00000314574.4:c.221C>T p.Ala74Val p.A74V ENST00000314574 NM_005433.3 74 gCa/gTa 0 -ZNF761 UCSF GRCh37 19 53952869 53952869 + non_coding_transcript_exon_variant RNA SNP T T C NOVEL P25_Pri Untested WXS Illumina HiSeq 22 4 25 1 ENST00000454407.1:n.573T>C *191* ENST00000454407 0 -ZNF844 UCSF GRCh37 19 12186387 12186387 + missense_variant Missense_Mutation SNP G G T NOVEL P25_Pri Untested WXS Illumina HiSeq 100 77 183 0 ENST00000439326.3:c.452G>T p.Arg151Ile p.R151I ENST00000439326 NM_001136501.1 151 aGa/aTa 0 -ADAM32 UCSF GRCh37 8 39007313 39007313 + missense_variant Missense_Mutation SNP C C G NOVEL P25_Rec Untested WXS Illumina HiSeq 86 16 97 0 ENST00000379907.4:c.280C>G p.Gln94Glu p.Q94E ENST00000379907 NM_145004.5 94 Caa/Gaa 0 -ALB UCSF GRCh37 4 74280766 74280766 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 68 51 156 0 ENST00000295897.4:c.1073A>G p.Tyr358Cys p.Y358C ENST00000295897 NM_000477.5 358 tAt/tGt 0 -ALG8 UCSF GRCh37 11 77832193 77832193 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000299626.5:c.396delA p.Val133TrpfsTer24 p.V133Wfs*24 ENST00000299626 NM_024079.4 132 aaA/aa 0 -ALG8 UCSF GRCh37 11 77824924 77824971 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL AGGCTTACCAAGGCCAGGAAAGGACCCAATGAAAGAGCAGAAACTAAG AGGCTTACCAAGGCCAGGAAAGGACCCAATGAAAGAGCAGAAACTAAG GGCTTACCAAGGCCAGGAAAGGACCCAATGAAAGAGCAAAAACAAAA NOVEL P25_Rec Untested WXS Illumina HiSeq 11 0 ENST00000299626.5:c.738_777+8delinsTTTTGTTTTTGCTCTTTCATTGGGTCCTTTCCTGGCCTTGGTAAGCC p.X246_splice ENST00000299626 NM_024079.4 246 0 -ATRX UCSF GRCh37 X 76918873 76918874 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL TT TT - NOVEL P25_Rec Untested WXS Illumina HiSeq 33 0 ENST00000373344.5:c.4117_4118del p.Lys1373GlyfsTer4 p.K1373Gfs*4 ENST00000373344 NM_000489.3 1373 AAg/g 0 -BAI3 UCSF GRCh37 6 69943256 69943257 + frameshift_variant Frame_Shift_Del DEL TA TA - NOVEL P25_Rec Untested WXS Illumina HiSeq 106 0 ENST00000370598.1:c.2556_2557del p.Cys853Ter p.C853* ENST00000370598 NM_001704.2 852 tTA/t 0 -BMPR2 UCSF GRCh37 2 203383749 203383752 + frameshift_variant Frame_Shift_Del DEL TTGC TTGC - NOVEL P25_Rec Untested WXS Illumina HiSeq 79 0 ENST00000374580.4:c.829_832del p.Leu277Ter p.L277* ENST00000374580 NM_001204.6 276 TTGCtt/tt 0 -CACNA1H UCSF GRCh37 16 1270131 1270131 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 252 28 285 0 ENST00000348261.5:c.6199G>A p.Val2067Ile p.V2067I ENST00000348261 NM_021098.2 2067 Gtc/Atc 0 -CCDC114 UCSF GRCh37 19 48800560 48800561 + frameshift_variant Frame_Shift_Del DEL AA AA - NOVEL P25_Rec Untested WXS Illumina HiSeq 57 0 ENST00000315396.7:c.1685_1686del p.Phe562TrpfsTer18 p.F562Wfs*18 ENST00000315396 NM_144577.3 562 tTT/t 0 -CCNA1 UCSF GRCh37 13 37007335 37007335 + stop_gained Nonsense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 41 13 110 0 ENST00000255465.4:c.274C>T p.Gln92Ter p.Q92* ENST00000255465 92 Cag/Tag 0 -CCNB1 UCSF GRCh37 5 68464167 68464167 + synonymous_variant Silent SNP T T C NOVEL P25_Rec Untested WXS Illumina HiSeq 157 40 189 0 ENST00000256442.5:c.360T>C p.Ile120= p.I120= ENST00000256442 NM_031966.3 120 atT/atC 0 -CCMT-ND1 UCSF GRCh37 11 69458623 69458623 + missense_variant Missense_Mutation SNP C C G NOVEL P25_Rec somatic WXS Sanger Illumina HiSeq 544 420 87 0 ENST00000227507.2:c.438C>G p.Asn146Lys p.N146K ENST00000227507 NM_053056.2 146 aaC/aaG 0 -CD93 UCSF GRCh37 20 23065795 23065795 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 137 77 299 0 ENST00000246006.4:c.1035C>T p.Asp345= p.D345= ENST00000246006 NM_012072.3 345 gaC/gaT 0 -CDH17 UCSF GRCh37 8 95201472 95201472 + synonymous_variant Silent SNP C C A NOVEL P25_Rec Untested WXS Illumina HiSeq 200 108 293 1 ENST00000027335.3:c.93G>T p.Leu31= p.L31= ENST00000027335 NM_004063.3 31 ctG/ctT 0 -CLSPN UCSF GRCh37 1 36215290 36215290 + missense_variant Missense_Mutation SNP C C G NOVEL P25_Rec Untested WXS Illumina HiSeq 106 25 142 0 ENST00000318121.3:c.2151G>C p.Lys717Asn p.K717N ENST00000318121 NM_022111.3 717 aaG/aaC 0 -CNGA3 UCSF GRCh37 2 99013128 99013128 + stop_gained Nonsense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 86 13 109 0 ENST00000272602.2:c.1495C>T p.Arg499Ter p.R499* ENST00000272602 499 Cga/Tga 0 -CNTLN UCSF GRCh37 9 17462971 17462973 + inframe_deletion In_Frame_Del DEL CTC CTC - NOVEL P25_Rec Untested WXS Illumina HiSeq 43 0 ENST00000380647.3:c.3366_3368del p.Leu1123del p.L1123del ENST00000380647 1122 CTC/- 0 -COL17A1 UCSF GRCh37 10 105815696 105815696 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 38 191 362 0 ENST00000353479.5:c.1531C>T p.Pro511Ser p.P511S ENST00000353479 NM_000494.3 511 Ccc/Tcc 0 -COL4A4 UCSF GRCh37 2 227920746 227920746 + synonymous_variant Silent SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 80 28 150 0 ENST00000396625.3:c.2631G>A p.Arg877= p.R877= ENST00000396625 NM_000092.4 877 cgG/cgA 0 -COL4A5 UCSF GRCh37 X 107846253 107846253 + stop_gained Nonsense_Mutation SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 59 42 103 0 ENST00000361603.2:c.2206G>T p.Glu736Ter p.E736* ENST00000361603 NM_000495.4 736 Gaa/Taa 0 -COL5A1 UCSF GRCh37 9 137703350 137703350 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 342 38 393 1 ENST00000371817.3:c.3595G>A p.Glu1199Lys p.E1199K ENST00000371817 NM_001278074.1 1199 Gag/Aag 0 -CPEB1 UCSF GRCh37 15 83226697 83226697 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 86 68 171 0 ENST00000568128.1:c.419G>A p.Gly140Glu p.G140E ENST00000568128 NM_030594.3 140 gGa/gAa 0 -DDX28 UCSF GRCh37 16 68055853 68055853 + missense_variant Missense_Mutation SNP T T C NOVEL P25_Rec Untested WXS Illumina HiSeq 305 230 440 0 ENST00000332395.5:c.1253A>G p.Asp418Gly p.D418G ENST00000332395 NM_018380.3 418 gAt/gGt 0 -DNAJC21 UCSF GRCh37 5 34950377 34950377 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 57 12 79 0 ENST00000342382.4:c.1288A>G p.Ser430Gly p.S430G ENST00000342382 430 Agt/Ggt 0 -ESM1 UCSF GRCh37 5 54275251 54275252 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P25_Rec Untested WXS Illumina HiSeq 177 0 ENST00000381405.4:c.464dup p.Ser156IlefsTer66 p.S156Ifs*66 ENST00000381405 NM_007036.4 155 gca/gCca 0 -FAM169BP UCSF GRCh37 15 98995135 98995135 + missense_variant Missense_Mutation SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 61 14 86 0 ENST00000558256.1:c.289C>A p.Leu97Met p.L97M ENST00000558256 NM_182562.2 97 Ctg/Atg 0 -FAM47C UCSF GRCh37 X 37027335 37027335 + synonymous_variant Silent SNP A A T NOVEL P25_Rec Untested WXS Illumina HiSeq 68 50 123 0 ENST00000358047.3:c.852A>T p.Pro284= p.P284= ENST00000358047 NM_001013736.2 284 ccA/ccT 0 -FSIP2 UCSF GRCh37 2 186697826 186697826 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 104 71 223 0 ENST00000424728.1:c.20597A>G p.Lys6866Arg p.K6866R ENST00000424728 6866 aAg/aGg 0 -GNAS UCSF GRCh37 20 57429313 57429313 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 303 47 311 0 ENST00000371100.4:c.993G>A p.Ala331= p.A331= ENST00000371100 NM_001077490.1 331 gcG/gcA 0 -GSDMD UCSF GRCh37 8 144641513 144641513 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 94 103 146 0 ENST00000262580.4:c.8C>T p.Ser3Leu p.S3L ENST00000262580 NM_024736.6 3 tCg/tTg 0 -HIVEP2 UCSF GRCh37 6 143092015 143092015 + synonymous_variant Silent SNP C C G NOVEL P25_Rec Untested WXS Illumina HiSeq 285 241 810 0 ENST00000012134.2:c.3861G>C p.Gly1287= p.G1287= ENST00000012134 1287 ggG/ggC 0 -HMG20A UCSF GRCh37 15 77770709 77770709 + missense_variant Missense_Mutation SNP A A T NOVEL P25_Rec Untested WXS Illumina HiSeq 129 17 106 0 ENST00000336216.4:c.764A>T p.Lys255Met p.K255M ENST00000336216 255 aAg/aTg 0 -HMG20B UCSF GRCh37 19 3576984 3576984 + synonymous_variant Silent SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 64 19 82 0 ENST00000333651.6:c.687C>T p.Ser229= p.S229= ENST00000333651 NM_006339.2 229 agC/agT 0 -HRASLS2 UCSF GRCh37 11 63320450 63320450 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0030 P25_Rec Untested WXS Illumina HiSeq 163 23 377 0 ENST00000255695.1:c.475C>T p.Arg159Trp p.R159W ENST00000255695 NM_017878.1 159 Cgg/Tgg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 8 8 35 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL7R UCSF GRCh37 5 35875666 35875666 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 98 24 134 0 ENST00000303115.3:c.853C>T p.His285Tyr p.H285Y ENST00000303115 NM_002185.3 285 Cat/Tat 0 -INHBA UCSF GRCh37 7 41729606 41729606 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 345 103 528 0 ENST00000242208.4:c.923G>A p.Arg308His p.R308H ENST00000242208 NM_002192.2 308 cGt/cAt 0 -INTS4 UCSF GRCh37 11 77672161 77672189 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region INS ACCATGAGACGTATCTGTCAGATGCTATT ACCATGAGACGTATCTGTCAGATGCTATT CCCAAGAGACGTATCTTTCAAATGCTATTA NOVEL P25_Rec Untested WXS Illumina HiSeq 7 0 ENST00000534064.1:c.472-5_495delinsTAATAGCATTTGAAAGATACGTCTCTTGGG p.X158_splice ENST00000534064 NM_033547.3 0 -INTS4 UCSF GRCh37 11 77672148 77672189 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region INS ACTTATTTCTTACACCATGAGACGTATCTGTCAGATGCTATT ACTTATTTCTTACACCATGAGACGTATCTGTCAGATGCTATT CCTTTTTTTTTTCACCATGAGACGTATTTTTCAGAAGCTATTA NOVEL P25_Rec Untested WXS Illumina HiSeq 9 0 ENST00000534064.1:c.472-5_508delinsTAATAGCTTCTGAAAAATACGTCTCATGGTGAAAAAAAAAAGG p.X158_splice ENST00000534064 NM_033547.3 0 -INTS4 UCSF GRCh37 11 77672152 77672189 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site INS ATTTCTTACACCATGAGACGTATCTGTCAGATGCTATT ATTTCTTACACCATGAGACGTATCTGTCAGATGCTATT TTTTTTTTCACCATAAGACGTATCTTTCAAATGTTATTA NOVEL P25_Rec Untested WXS Illumina HiSeq 17 0 ENST00000534064.1:c.472-5_504delinsTAATAACATTTGAAAGATACGTCTTATGGTGAAAAAAAA p.X158_splice ENST00000534064 NM_033547.3 0 -INTS4 UCSF GRCh37 11 77672175 77672189 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site INS CTGTCAGATGCTATT CTGTCAGATGCTATT ATTTCAGATGTTATTA NOVEL P25_Rec Untested WXS Illumina HiSeq 7 0 ENST00000534064.1:c.472-5_481delinsTAATAACATCTGAAAT p.X158_splice ENST00000534064 NM_033547.3 0 -INTS4 UCSF GRCh37 11 77672165 77672189 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site INS TGAGACGTATCTGTCAGATGCTATT TGAGACGTATCTGTCAGATGCTATT AGAAAAGTTTTTTTAAAAAGTTATTA NOVEL P25_Rec Untested WXS Illumina HiSeq 7 0 ENST00000534064.1:c.472-5_491delinsTAATAACTTTTTAAAAAAACTTTTCT p.X158_splice ENST00000534064 NM_033547.3 0 -ITGA2 UCSF GRCh37 5 52385787 52385787 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 220 27 231 0 ENST00000296585.5:c.3360G>A p.Met1120Ile p.M1120I ENST00000296585 NM_002203.3 1120 atG/atA 0 -KLHDC4 UCSF GRCh37 16 87744934 87744934 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 318 38 355 0 ENST00000270583.5:c.951C>T p.Asp317= p.D317= ENST00000270583 NM_017566.3 317 gaC/gaT 0 -KRT75 UCSF GRCh37 12 52825420 52825420 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 116 91 202 0 ENST00000252245.5:c.777C>T p.Asp259= p.D259= ENST00000252245 NM_004693.2 259 gaC/gaT 0 -KRT82 UCSF GRCh37 12 52793852 52793852 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.010,1000g2011may_all_0.0015,snp132_rs61730589 P25_Rec Untested WXS Illumina HiSeq 86 20 97 0 ENST00000257974.2:c.859G>A p.Gly287Ser p.G287S ENST00000257974 NM_033033.3 287 Ggc/Agc 0 -LLGL2 UCSF GRCh37 17 73569328 73569328 + synonymous_variant Silent SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 78 23 59 0 ENST00000392550.3:c.2694C>T p.Ile898= p.I898= ENST00000392550 NM_001031803.1 898 atC/atT 0 -LONRF1 UCSF GRCh37 8 12612285 12612285 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 25 30 76 0 ENST00000398246.3:c.645C>T p.Ala215= p.A215= ENST00000398246 NM_152271.3 215 gcC/gcT 0 -MARS UCSF GRCh37 12 57883053 57883053 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P25_Rec Untested WXS Illumina HiSeq 13 0 ENST00000262027.5:c.212del p.Leu71CysfsTer33 p.L71Cfs*33 ENST00000262027 NM_004990.3 68 taT/ta 0 -MARS UCSF GRCh37 12 57882776 57882808 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TAACCCATTTTCCATTCTTGCATCAGATTGTGT TAACCCATTTTCCATTCTTGCATCAGATTGTGT AACCCATTTTCCATTCTTGCATCAGATTTTGG NOVEL P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000262027.5:c.110-26_116delinsAACCCATTTTCCATTCTTGCATCAGATTTTGG p.X37_splice ENST00000262027 NM_004990.3 0 -MFSD7 UCSF GRCh37 4 680052 680052 + missense_variant Missense_Mutation SNP G G C NOVEL P25_Rec Untested WXS Illumina HiSeq 72 17 58 0 ENST00000404286.2:c.334C>G p.Leu112Val p.L112V ENST00000404286 NM_032219.2 112 Cta/Gta 0 -MFSD7 UCSF GRCh37 4 679684 679684 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 458 120 294 0 ENST00000404286.2:c.525C>T p.Val175= p.V175= ENST00000404286 NM_032219.2 175 gtC/gtT 0 -MORC4 UCSF GRCh37 X 106185751 106185751 + missense_variant Missense_Mutation SNP C C G NOVEL P25_Rec Untested WXS Illumina HiSeq 129 99 218 0 ENST00000355610.4:c.2370G>C p.Gln790His p.Q790H ENST00000355610 NM_001085354.2 790 caG/caC 0 -MUC16 UCSF GRCh37 19 9065233 9065233 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 99 72 162 1 ENST00000397910.4:c.22213T>C p.Ser7405Pro p.S7405P ENST00000397910 NM_024690.2 7405 Tct/Cct 0 -MYCN UCSF GRCh37 2 16082314 16082315 + frameshift_variant Frame_Shift_Ins INS - - C NOVEL P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000281043.3:c.134dup p.Glu47GlyfsTer8 p.E47Gfs*8 ENST00000281043 NM_005378.4 43 acc/acCc 0 -MYEOV UCSF GRCh37 11 69063724 69063724 + frameshift_variant Frame_Shift_Del DEL G G - 1000g2010nov_all P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000308946.3:c.813delG p.Trp272GlyfsTer66 p.W272Gfs*66 ENST00000308946 NM_138768.2 269 ctG/ct 0 -MYH14 UCSF GRCh37 19 50780049 50780049 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 57 11 67 0 ENST00000376970.2:c.3692A>G p.Lys1231Arg p.K1231R ENST00000376970 NM_024729.3 1231 aAg/aGg 0 -NAGS UCSF GRCh37 17 42084844 42084844 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 84 39 72 0 ENST00000293404.3:c.1250C>T p.Ser417Phe p.S417F ENST00000293404 NM_153006.2 417 tCc/tTc 0 -NBPF1 UCSF GRCh37 1 16893721 16893721 + missense_variant Missense_Mutation SNP A A C 1000g2010nov_all_0.064 P25_Rec Untested WXS Illumina HiSeq 10 5 13 0 ENST00000430580.2:c.2792T>G p.Phe931Cys p.F931C ENST00000430580 NM_017940.4 931 tTt/tGt 0 -NLRP9 UCSF GRCh37 19 56243414 56243414 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 50 39 118 0 ENST00000332836.2:c.1783C>T p.Arg595Cys p.R595C ENST00000332836 NM_176820.2 595 Cgc/Tgc 0 -NOTCH4 UCSF GRCh37 6 32169238 32169238 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 235 106 222 0 ENST00000375023.3:c.3795C>T p.Asn1265= p.N1265= ENST00000375023 NM_004557.3 1265 aaC/aaT 0 -NRP2 UCSF GRCh37 2 206605343 206605345 + inframe_deletion In_Frame_Del DEL CAG CAG - NOVEL P25_Rec Untested WXS Illumina HiSeq 10 0 ENST00000360409.3:c.1247_1249del p.Ser416_Gly417delinsCys p.S416_G417delinsC ENST00000360409 NM_003872.2 416 tCAGgt/tgt 0 -NXF1 UCSF GRCh37 11 62564841 62564841 + synonymous_variant Silent SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 7 31 52 0 ENST00000294172.2:c.1071C>A p.Pro357= p.P357= ENST00000294172 NM_006362.4 357 ccC/ccA 0 -OGFR UCSF GRCh37 20 61441865 61441865 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 97 74 134 0 ENST00000290291.6:c.413G>A p.Arg138Gln p.R138Q ENST00000290291 NM_007346.2 138 cGa/cAa 0 -OR2A5 UCSF GRCh37 7 143747979 143747979 + missense_variant Missense_Mutation SNP T T C NOVEL P25_Rec Untested WXS Illumina HiSeq 132 56 285 0 ENST00000408906.2:c.485T>C p.Leu162Pro p.L162P ENST00000408906 NM_012365.1 162 cTc/cCc 0 -OR4S2 UCSF GRCh37 11 55419231 55419231 + synonymous_variant Silent SNP T T A NOVEL P25_Rec Untested WXS Illumina HiSeq 71 55 285 0 ENST00000312422.2:c.852T>A p.Ile284= p.I284= ENST00000312422 NM_001004059.2 284 atT/atA 0 -OR52A5 UCSF GRCh37 11 5153593 5153593 + missense_variant Missense_Mutation SNP T T C NOVEL P25_Rec Untested WXS Illumina HiSeq 177 149 573 0 ENST00000307388.1:c.280A>G p.Ile94Val p.I94V ENST00000307388 NM_001005160.2 94 Att/Gtt 0 -OR6C6 UCSF GRCh37 12 55688653 55688653 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 148 33 196 0 ENST00000358433.2:c.364G>A p.Val122Ile p.V122I ENST00000358433 NM_001005493.1 122 Gtt/Att 0 -PDE6B UCSF GRCh37 4 659088 659088 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 96 22 75 0 ENST00000496514.1:c.2238G>A p.Leu746= p.L746= ENST00000496514 746 ttG/ttA 0 -PGLYRP3 UCSF GRCh37 1 153279615 153279615 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 79 26 81 0 ENST00000290722.1:c.184G>A p.Val62Ile p.V62I ENST00000290722 NM_052891.1 62 Gtt/Att 0 -PGR UCSF GRCh37 11 100996839 100996839 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 48 24 176 0 ENST00000325455.5:c.1688C>T p.Pro563Leu p.P563L ENST00000325455 NM_001202474.3 563 cCt/cTt 0 -PIGR UCSF GRCh37 1 207105892 207105892 + synonymous_variant Silent SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 59 26 107 0 ENST00000356495.4:c.1917G>A p.Ala639= p.A639= ENST00000356495 NM_002644.3 639 gcG/gcA 0 -PLA2G4A UCSF GRCh37 1 186909194 186909194 + missense_variant Missense_Mutation SNP T T C NOVEL P25_Rec Untested WXS Illumina HiSeq 364 113 469 0 ENST00000367466.3:c.1001T>C p.Val334Ala p.V334A ENST00000367466 NM_024420.2 334 gTc/gCc 0 -PLEKHG1 UCSF GRCh37 6 151161729 151161731 + inframe_deletion In_Frame_Del DEL AGA AGA - NOVEL P25_Rec Untested WXS Illumina HiSeq 47 0 ENST00000358517.2:c.3861_3863del p.Glu1287del p.E1287del ENST00000358517 1285 tcAGAa/tca 0 -PLEKHG6 UCSF GRCh37 12 6436644 6436644 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 68 46 96 0 ENST00000011684.7:c.1895G>A p.Arg632His p.R632H ENST00000011684 NM_018173.3 632 cGt/cAt 0 -PRSS21 UCSF GRCh37 16 2867889 2867889 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 46 6 47 0 ENST00000005995.3:c.179G>A p.Arg60His p.R60H ENST00000005995 60 cGc/cAc 0 -QRICH2 UCSF GRCh37 17 74288509 74288510 + inframe_insertion In_Frame_Ins INS - - CTGCACCAGGTTGGACCAAACCACGCTGAT NOVEL P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000262765.5:c.1800_1801insATCAGCGTGGTTTGGTCCAACCTGGTGCAG p.Ala600_Asp601insIleSerValValTrpSerAsnLeuValGln p.A600_D601insISVVWSNLVQ ENST00000262765 NM_032134.1 600 -/ATCAGCGTGGTTTGGTCCAACCTGGTGCAG 0 -RPH3A UCSF GRCh37 12 113314503 113314503 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 63 11 69 0 ENST00000389385.4:c.1003G>A p.Gly335Arg p.G335R ENST00000389385 NM_001143854.1 335 Gga/Aga 0 -SCAMT-ND3 UCSF GRCh37 6 28543477 28543477 + missense_variant Missense_Mutation SNP C C A NOVEL P25_Rec Untested WXS Illumina HiSeq 499 78 490 0 ENST00000452236.2:c.1005G>T p.Lys335Asn p.K335N ENST00000452236 NM_052923.1 335 aaG/aaT 0 -SEC63 UCSF GRCh37 6 108214774 108214774 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000369002.4:c.1586del p.Lys529ArgfsTer4 p.K529Rfs*4 ENST00000369002 NM_007214.4 529 aAg/ag 0 -SEMA3B UCSF GRCh37 3 50310793 50310795 + intron_variant,non_coding_transcript_variant Intron DEL CTT CTT - NOVEL P25_Rec Untested WXS Illumina HiSeq 84 0 ENST00000456210.1:n.158+54_158+56delCTT *53* ENST00000456210 0 -SEMA6D UCSF GRCh37 15 48058784 48058784 + intron_variant Intron SNP G G C NOVEL P25_Rec Untested WXS Illumina HiSeq 128 30 174 0 ENST00000316364.5:c.1647-29G>C *549* ENST00000316364 NM_153618.1 0 -SIN3B UCSF GRCh37 19 16976309 16976311 + inframe_deletion In_Frame_Del DEL AGG AGG - NOVEL P25_Rec Untested WXS Illumina HiSeq 9 0 ENST00000379803.1:c.1570_1572del p.Glu524del p.E524del ENST00000379803 NM_015260.2 523 cAGGag/cag 0 -SLC23A2 UCSF GRCh37 20 4850569 4850570 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P25_Rec Untested WXS Illumina HiSeq 13 0 ENST00000338244.1:c.1233dup p.Ile412HisfsTer18 p.I412Hfs*18 ENST00000338244 NM_005116.5 411 ccc/ccCc 0 -SLC26A9 UCSF GRCh37 1 205899074 205899074 + missense_variant Missense_Mutation SNP C C G NOVEL P25_Rec Untested WXS Illumina HiSeq 59 14 80 0 ENST00000367135.3:c.663G>C p.Lys221Asn p.K221N ENST00000367135 NM_052934.3 221 aaG/aaC 0 -SLC6A3 UCSF GRCh37 5 1422076 1422076 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 122 28 141 0 ENST00000270349.9:c.707C>T p.Pro236Leu p.P236L ENST00000270349 NM_001044.4 236 cCg/cTg 0 -SLIT3 UCSF GRCh37 5 168093656 168093656 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 46 40 154 0 ENST00000519560.1:c.4375C>T p.Arg1459Cys p.R1459C ENST00000519560 NM_003062.3 1459 Cgc/Tgc 0 -SPATS2L UCSF GRCh37 2 201303884 201303884 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 147 52 216 0 ENST00000358677.5:c.485G>A p.Gly162Glu p.G162E ENST00000358677 NM_015535.2 162 gGg/gAg 0 -SPEN UCSF GRCh37 1 16257644 16257644 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 258 134 237 0 ENST00000375759.3:c.4909G>A p.Val1637Ile p.V1637I ENST00000375759 NM_015001.2 1637 Gtt/Att 0 -STXBP5 UCSF GRCh37 6 147648347 147648347 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 34 18 94 0 ENST00000321680.6:c.2015A>G p.Tyr672Cys p.Y672C ENST00000321680 NM_001127715.2 672 tAt/tGt 0 -TGM3 UCSF GRCh37 20 2312794 2312794 + missense_variant Missense_Mutation SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 119 51 228 0 ENST00000381458.5:c.1480G>T p.Ala494Ser p.A494S ENST00000381458 NM_003245.3 494 Gca/Tca 0 -TRPV5 UCSF GRCh37 7 142606703 142606703 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 23 6 47 0 ENST00000265310.1:c.1848C>T p.Ser616= p.S616= ENST00000265310 NM_019841.4 616 tcC/tcT 0 -UACA UCSF GRCh37 15 70959163 70959163 + missense_variant Missense_Mutation SNP T T C NOVEL P25_Rec Untested WXS Illumina HiSeq 334 46 424 1 ENST00000322954.6:c.3860A>G p.Lys1287Arg p.K1287R ENST00000322954 NM_018003.2 1287 aAg/aGg 0 -USP35 UCSF GRCh37 11 77920720 77920722 + inframe_deletion In_Frame_Del DEL CGC CGC - NOVEL P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000529308.1:c.1829_1831del p.Arg610del p.R610del ENST00000529308 NM_020798.2 607 CGC/- 0 -VPS35 UCSF GRCh37 16 46706301 46706301 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 227 195 360 0 ENST00000299138.7:c.1244T>C p.Val415Ala p.V415A ENST00000299138 NM_018206.4 415 gTc/gCc 0 -WDR49 UCSF GRCh37 3 167249025 167249025 + missense_variant Missense_Mutation SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 63 12 105 0 ENST00000308378.3:c.1040C>A p.Pro347His p.P347H ENST00000308378 NM_178824.3 347 cCc/cAc 0 -WIF1 UCSF GRCh37 12 65514908 65514908 + missense_variant Missense_Mutation SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 15 3 25 0 ENST00000286574.4:c.64C>A p.Leu22Met p.L22M ENST00000286574 NM_007191.4 22 Ctg/Atg 0 -WRAP53 UCSF GRCh37 17 7592209 7592210 + frameshift_variant Frame_Shift_Del DEL AG AG - NOVEL P25_Rec Untested WXS Illumina HiSeq 70 0 ENST00000316024.5:c.245_246del p.Glu82ValfsTer5 p.E82Vfs*5 ENST00000316024 81 acAGag/acag 0 -YARS UCSF GRCh37 1 33245060 33245060 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 293 159 343 0 ENST00000373477.4:c.1399G>A p.Val467Met p.V467M ENST00000373477 NM_003680.3 467 Gtg/Atg 0 -YES1 UCSF GRCh37 18 756607 756607 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 86 73 138 0 ENST00000314574.4:c.221C>T p.Ala74Val p.A74V ENST00000314574 NM_005433.3 74 gCa/gTa 0 -ZDBF2 UCSF GRCh37 2 207176038 207176038 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 150 50 243 0 ENST00000374423.3:c.6786G>A p.Ala2262= p.A2262= ENST00000374423 NM_020923.1 2262 gcG/gcA 0 -ZMYM6 UCSF GRCh37 1 35496163 35496165 + inframe_deletion In_Frame_Del DEL TTC TTC - NOVEL P25_Rec Untested WXS Illumina HiSeq 22 0 ENST00000357182.4:c.76_78del p.Glu26del p.E26del ENST00000357182 NM_007167.3 26 GAA/- 0 -ZNF202 UCSF GRCh37 11 123596991 123596991 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 256 38 512 0 ENST00000336139.4:c.1661C>T p.Ala554Val p.A554V ENST00000336139 554 gCg/gTg 0 -ZNF208 UCSF GRCh37 19 22157024 22157024 + missense_variant Missense_Mutation SNP A A T NOVEL P25_Rec Untested WXS Illumina HiSeq 24 6 23 0 ENST00000397126.4:c.812T>A p.Ile271Asn p.I271N ENST00000397126 NM_007153.3 271 aTc/aAc 0 -ZNF844 UCSF GRCh37 19 12186387 12186387 + missense_variant Missense_Mutation SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 116 94 183 0 ENST00000439326.3:c.452G>T p.Arg151Ile p.R151I ENST00000439326 NM_001136501.1 151 aGa/aTa 0 -ZNF90 UCSF GRCh37 19 20228765 20228765 + missense_variant Missense_Mutation SNP C C A NOVEL P25_Rec Untested WXS Illumina HiSeq 154 41 222 0 ENST00000418063.2:c.402C>A p.Asn134Lys p.N134K ENST00000418063 NM_007138.1 134 aaC/aaA 0 -ANK3 UCSF GRCh37 10 61946630 61946630 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Pri_A Untested WXS Illumina HiSeq 42 29 101 0 ENST00000280772.2:c.1928A>G p.Gln643Arg p.Q643R ENST00000280772 NM_020987.3 643 cAg/cGg 0 -ANKRD30B UCSF GRCh37 18 14851953 14851953 + missense_variant Missense_Mutation SNP A A T NOVEL P26_Pri_A Untested WXS Illumina HiSeq 33 5 56 0 ENST00000358984.4:c.3653A>T p.Asp1218Val p.D1218V ENST00000358984 NM_001145029.1 1218 gAt/gTt 0 -ATRX UCSF GRCh37 X 76909677 76909681 + frameshift_variant Frame_Shift_Del DEL CTTTC CTTTC - NOVEL P26_Pri_A Untested WXS Illumina HiSeq 73 0 ENST00000373344.5:c.4224_4228del p.Lys1408AsnfsTer11 p.K1408Nfs*11 ENST00000373344 NM_000489.3 1408 aaGAAAGca/aaca 0 -CHD4 UCSF GRCh37 12 6692539 6692539 + synonymous_variant Silent SNP T T C NOVEL P26_Pri_A Untested WXS Illumina HiSeq 27 28 49 0 ENST00000357008.2:c.3885A>G p.Glu1295= p.E1295= ENST00000357008 NM_001273.2 1295 gaA/gaG 0 -EMR3 UCSF GRCh37 19 14748981 14748981 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Pri_A Untested WXS Illumina HiSeq 98 57 163 0 ENST00000253673.5:c.1420G>A p.Val474Ile p.V474I ENST00000253673 NM_032571.3 474 Gtt/Att 0 -EYS UCSF GRCh37 6 66112482 66112482 + missense_variant Missense_Mutation SNP C C G NOVEL P26_Pri_A Untested WXS Illumina HiSeq 84 54 138 0 ENST00000370616.2:c.1073G>C p.Cys358Ser p.C358S ENST00000370616 358 tGt/tCt 0 -FGFR4 UCSF GRCh37 5 176522719 176522719 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Pri_A Untested WXS Illumina HiSeq 29 20 36 0 ENST00000292408.4:c.1816C>T p.Arg606Trp p.R606W ENST00000292408 NM_213647.1 606 Cgg/Tgg 0 -GAD1 UCSF GRCh37 2 171700560 171700565 + inframe_deletion In_Frame_Del DEL CATATG CATATG - NOVEL P26_Pri_A Untested WXS Illumina HiSeq 73 0 ENST00000358196.3:c.644_649del p.Thr215_Glu217delinsLys p.T215_E217delinsK ENST00000358196 NM_000817.2 215 aCATATGaa/aaa 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Pri_A Untested WXS Illumina HiSeq 13 16 27 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGHMBP2 UCSF GRCh37 11 68707014 68707014 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Pri_A Untested WXS Illumina HiSeq 8 12 25 0 ENST00000255078.3:c.2797G>A p.Gly933Ser p.G933S ENST00000255078 NM_002180.2 933 Ggt/Agt 0 -KIF26B UCSF GRCh37 1 245848890 245848890 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Pri_A Untested WXS Illumina HiSeq 91 66 164 0 ENST00000407071.2:c.2605G>A p.Gly869Arg p.G869R ENST00000407071 NM_018012.3 869 Ggg/Agg 0 -MED12 UCSF GRCh37 X 70357661 70357661 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Pri_A Untested WXS Illumina HiSeq 164 117 283 0 ENST00000374080.3:c.5912A>C p.Gln1971Pro p.Q1971P ENST00000374080 1971 cAg/cCg 0 -MURC UCSF GRCh37 9 103348678 103348678 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Pri_A Untested WXS Illumina HiSeq 190 49 156 0 ENST00000307584.5:c.1040A>G p.Gln347Arg p.Q347R ENST00000307584 NM_001018116.2 347 cAg/cGg 0 -NCOA6 UCSF GRCh37 20 33338237 33338237 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Pri_A Untested WXS Illumina HiSeq 43 43 94 0 ENST00000359003.2:c.1761T>G p.Ile587Met p.I587M ENST00000359003 NM_014071.3 587 atT/atG 0 -PCDHB2 UCSF GRCh37 5 140475862 140475862 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0149,snp132_rs61745643 P26_Pri_A Untested WXS Illumina HiSeq 22 4 28 1 ENST00000194155.4:c.1488G>A p.Gln496= p.Q496= ENST00000194155 NM_018936.2 496 caG/caA 0 -PGGT1B UCSF GRCh37 5 114552629 114552629 + missense_variant Missense_Mutation SNP T T A NOVEL P26_Pri_A Untested WXS Illumina HiSeq 14 17 25 0 ENST00000419445.1:c.885A>T p.Arg295Ser p.R295S ENST00000419445 NM_005023.3 295 agA/agT 0 -RBMX UCSF GRCh37 X 135958696 135958696 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.08188,snp132_rs112800567 P26_Pri_A Untested WXS Illumina HiSeq 19 6 20 1 ENST00000320676.7:c.507A>G p.Gly169= p.G169= ENST00000320676 NM_002139.3 169 ggA/ggG 0 -RELN UCSF GRCh37 7 103138574 103138574 + synonymous_variant Silent SNP T T G NOVEL P26_Pri_A Untested WXS Illumina HiSeq 114 38 153 0 ENST00000428762.1:c.8793A>C p.Gly2931= p.G2931= ENST00000428762 NM_005045.3 2931 ggA/ggC 0 -RETSAT UCSF GRCh37 2 85570849 85570849 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.169,snp132_rs28418594 P26_Pri_A Untested WXS Illumina HiSeq 12 4 17 0 ENST00000295802.4:c.1606G>A p.Gly536Arg p.G536R ENST00000295802 NM_017750.3 536 Ggg/Agg 0 -SCN9A UCSF GRCh37 2 167056179 167056179 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Pri_A Untested WXS Illumina HiSeq 49 35 92 0 ENST00000303354.6:c.4973T>C p.Ile1658Thr p.I1658T ENST00000303354 1658 aTc/aCc 0 -SFI1 UCSF GRCh37 22 32014359 32014359 + synonymous_variant Silent SNP C C T NOVEL P26_Pri_A Untested WXS Illumina HiSeq 39 43 70 0 ENST00000400288.2:c.3684C>T p.Gly1228= p.G1228= ENST00000400288 NM_001007467.2 1228 ggC/ggT 0 -SLC38A8 UCSF GRCh37 16 84050190 84050190 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Pri_A Untested WXS Illumina HiSeq 28 26 43 1 ENST00000299709.3:c.1096C>T p.Pro366Ser p.P366S ENST00000299709 NM_001080442.1 366 Cct/Tct 0 -SPP1 UCSF GRCh37 4 88903874 88903875 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P26_Pri_A Untested WXS Illumina HiSeq 73 0 ENST00000395080.3:c.771_772del p.Ser258ArgfsTer4 p.S258Rfs*4 ENST00000395080 NM_001040058.1 257 caTTcc/cacc 0 -TBC1D5 UCSF GRCh37 3 17279718 17279718 + stop_gained Nonsense_Mutation SNP G G A NOVEL P26_Pri_A Untested WXS Illumina HiSeq 189 134 261 0 ENST00000253692.7:c.1525C>T p.Gln509Ter p.Q509* ENST00000253692 NM_014744.2 509 Caa/Taa 0 -TIAM1 UCSF GRCh37 21 32639259 32639259 + synonymous_variant Silent SNP C C T NOVEL P26_Pri_A Untested WXS Illumina HiSeq 36 16 68 0 ENST00000286827.3:c.30G>A p.Glu10= p.E10= ENST00000286827 NM_003253.2 10 gaG/gaA 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Pri_A Untested WXS Illumina HiSeq 6 67 73 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -XPO7 UCSF GRCh37 8 21862569 21862569 + synonymous_variant Silent SNP T T C NOVEL P26_Pri_A Untested WXS Illumina HiSeq 240 181 396 1 ENST00000252512.9:c.3234T>C p.Tyr1078= p.Y1078= ENST00000252512 NM_015024.4 1078 taT/taC 0 -AIM2 UCSF GRCh37 1 159032487 159032487 + frameshift_variant Frame_Shift_Del DEL T T - 1000g2010nov_all P26_Pri_B Untested WXS Illumina HiSeq 6 0 ENST00000368130.4:c.1027delA p.Thr343HisfsTer14 p.T343Hfs*14 ENST00000368130 NM_004833.1 343 Aca/ca 0 -ANK3 UCSF GRCh37 10 61946630 61946630 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 27 21 101 0 ENST00000280772.2:c.1928A>G p.Gln643Arg p.Q643R ENST00000280772 NM_020987.3 643 cAg/cGg 0 -ATRX UCSF GRCh37 X 76909677 76909681 + frameshift_variant Frame_Shift_Del DEL CTTTC CTTTC - NOVEL P26_Pri_B Untested WXS Illumina HiSeq 85 0 ENST00000373344.5:c.4224_4228del p.Lys1408AsnfsTer11 p.K1408Nfs*11 ENST00000373344 NM_000489.3 1408 aaGAAAGca/aaca 0 -C20orf96(NM_080571:exon2:c.17+2->TA) UCSF GRCh37 20 271226 271227 + splice_region_variant,intron_variant Splice_Region INS - - TA NOVEL P26_Pri_B Untested WXS Illumina HiSeq 11 0 ENST00000360321.2:c.20+6_20+7dup p.X7_splice ENST00000360321 NM_153269.2 0 -CDC27 UCSF GRCh37 17 45234707 45234707 + missense_variant Missense_Mutation SNP T T A 1000g2010nov_all_0.209,snp132_rs75353677 P26_Pri_B Untested WXS Illumina HiSeq 44 7 47 1 ENST00000066544.3:c.519A>T p.Leu173Phe p.L173F ENST00000066544 NM_001256.3 173 ttA/ttT 0 -CHD4 UCSF GRCh37 12 6692539 6692539 + synonymous_variant Silent SNP T T C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 22 16 49 0 ENST00000357008.2:c.3885A>G p.Glu1295= p.E1295= ENST00000357008 NM_001273.2 1295 gaA/gaG 0 -EMR3 UCSF GRCh37 19 14748981 14748981 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Pri_B Untested WXS Illumina HiSeq 71 48 163 0 ENST00000253673.5:c.1420G>A p.Val474Ile p.V474I ENST00000253673 NM_032571.3 474 Gtt/Att 0 -EYS UCSF GRCh37 6 66112482 66112482 + missense_variant Missense_Mutation SNP C C G NOVEL P26_Pri_B Untested WXS Illumina HiSeq 81 48 138 0 ENST00000370616.2:c.1073G>C p.Cys358Ser p.C358S ENST00000370616 358 tGt/tCt 0 -FGFR4 UCSF GRCh37 5 176522719 176522719 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Pri_B Untested WXS Illumina HiSeq 11 6 36 0 ENST00000292408.4:c.1816C>T p.Arg606Trp p.R606W ENST00000292408 NM_213647.1 606 Cgg/Tgg 0 -GAD1 UCSF GRCh37 2 171700560 171700565 + inframe_deletion In_Frame_Del DEL CATATG CATATG - NOVEL P26_Pri_B Untested WXS Illumina HiSeq 55 0 ENST00000358196.3:c.644_649del p.Thr215_Glu217delinsLys p.T215_E217delinsK ENST00000358196 NM_000817.2 215 aCATATGaa/aaa 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Pri_B Untested WXS Illumina HiSeq 13 10 27 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGHMBP2 UCSF GRCh37 11 68707014 68707014 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Pri_B Untested WXS Illumina HiSeq 13 9 25 0 ENST00000255078.3:c.2797G>A p.Gly933Ser p.G933S ENST00000255078 NM_002180.2 933 Ggt/Agt 0 -KIF26B UCSF GRCh37 1 245848890 245848890 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Pri_B Untested WXS Illumina HiSeq 82 47 164 0 ENST00000407071.2:c.2605G>A p.Gly869Arg p.G869R ENST00000407071 NM_018012.3 869 Ggg/Agg 0 -MED12 UCSF GRCh37 X 70357661 70357661 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 82 71 283 0 ENST00000374080.3:c.5912A>C p.Gln1971Pro p.Q1971P ENST00000374080 1971 cAg/cCg 0 -MURC UCSF GRCh37 9 103348678 103348678 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Pri_B Untested WXS Illumina HiSeq 159 56 156 0 ENST00000307584.5:c.1040A>G p.Gln347Arg p.Q347R ENST00000307584 NM_001018116.2 347 cAg/cGg 0 -NCOA6 UCSF GRCh37 20 33338237 33338237 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 38 29 94 0 ENST00000359003.2:c.1761T>G p.Ile587Met p.I587M ENST00000359003 NM_014071.3 587 atT/atG 0 -NEUROD6 UCSF GRCh37 7 31378635 31378635 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P26_Pri_B Untested WXS Illumina HiSeq 6 0 ENST00000297142.3:c.248delA p.Lys83ArgfsTer35 p.K83Rfs*35 ENST00000297142 NM_022728.3 83 aAg/ag 0 -PCNXL3 UCSF GRCh37 11 65383789 65383789 + missense_variant Missense_Mutation SNP T T G NOVEL P26_Pri_B Untested WXS Illumina HiSeq 27 4 61 1 ENST00000355703.3:c.7T>G p.Ser3Ala p.S3A ENST00000355703 NM_032223.2 3 Tcg/Gcg 0 -PGGT1B UCSF GRCh37 5 114552629 114552629 + missense_variant Missense_Mutation SNP T T A NOVEL P26_Pri_B Untested WXS Illumina HiSeq 16 8 25 0 ENST00000419445.1:c.885A>T p.Arg295Ser p.R295S ENST00000419445 NM_005023.3 295 agA/agT 0 -POPDC2 UCSF GRCh37 3 119378815 119378815 + synonymous_variant Silent SNP T T G NOVEL P26_Pri_B Untested WXS Illumina HiSeq 16 10 38 0 ENST00000264231.3:c.456A>C p.Thr152= p.T152= ENST00000264231 NM_022135.2 152 acA/acC 0 -PRG4 UCSF GRCh37 1 186276052 186276052 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 37 6 71 1 ENST00000445192.2:c.1201A>C p.Thr401Pro p.T401P ENST00000445192 NM_005807.3 401 Acc/Ccc 0 -PRICKLE4 UCSF GRCh37 6 41754576 41754595 + downstream_gene_variant 3'Flank INS CGCTGCTGCCGGCGGTTCCA CGCTGCTGCCGGCGGTTCCA TCTCGCTGCTGCCGGCGGTTTCC NOVEL P26_Pri_B Untested WXS Illumina HiSeq 14 0 ENST00000359201 0 -RBM45 UCSF GRCh37 2 178988920 178988920 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P26_Pri_B Untested WXS Illumina HiSeq 6 0 ENST00000286070.5:c.1143delA p.Ala382LeufsTer7 p.A382Lfs*7 ENST00000286070 NM_152945.2 379 Aaa/aa 0 -RELN UCSF GRCh37 7 103138574 103138574 + synonymous_variant Silent SNP T T G NOVEL P26_Pri_B Untested WXS Illumina HiSeq 138 37 153 0 ENST00000428762.1:c.8793A>C p.Gly2931= p.G2931= ENST00000428762 NM_005045.3 2931 ggA/ggC 0 -SCN9A UCSF GRCh37 2 167056179 167056179 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Pri_B Untested WXS Illumina HiSeq 40 26 92 0 ENST00000303354.6:c.4973T>C p.Ile1658Thr p.I1658T ENST00000303354 1658 aTc/aCc 0 -SFI1 UCSF GRCh37 22 32014359 32014359 + synonymous_variant Silent SNP C C T NOVEL P26_Pri_B Untested WXS Illumina HiSeq 28 27 70 0 ENST00000400288.2:c.3684C>T p.Gly1228= p.G1228= ENST00000400288 NM_001007467.2 1228 ggC/ggT 0 -SLC38A8 UCSF GRCh37 16 84050190 84050190 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Pri_B Untested WXS Illumina HiSeq 35 18 43 1 ENST00000299709.3:c.1096C>T p.Pro366Ser p.P366S ENST00000299709 NM_001080442.1 366 Cct/Tct 0 -SPP1 UCSF GRCh37 4 88903874 88903875 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P26_Pri_B Untested WXS Illumina HiSeq 92 0 ENST00000395080.3:c.771_772del p.Ser258ArgfsTer4 p.S258Rfs*4 ENST00000395080 NM_001040058.1 257 caTTcc/cacc 0 -TBC1D5 UCSF GRCh37 3 17279718 17279718 + stop_gained Nonsense_Mutation SNP G G A NOVEL P26_Pri_B Untested WXS Illumina HiSeq 206 134 261 0 ENST00000253692.7:c.1525C>T p.Gln509Ter p.Q509* ENST00000253692 NM_014744.2 509 Caa/Taa 0 -TIAM1 UCSF GRCh37 21 32639259 32639259 + synonymous_variant Silent SNP C C T NOVEL P26_Pri_B Untested WXS Illumina HiSeq 38 20 68 0 ENST00000286827.3:c.30G>A p.Glu10= p.E10= ENST00000286827 NM_003253.2 10 gaG/gaA 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 11 44 73 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -XPO7 UCSF GRCh37 8 21862569 21862569 + synonymous_variant Silent SNP T T C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 262 191 396 1 ENST00000252512.9:c.3234T>C p.Tyr1078= p.Y1078= ENST00000252512 NM_015024.4 1078 taT/taC 0 -ANK3 UCSF GRCh37 10 61946630 61946630 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 56 43 101 0 ENST00000280772.2:c.1928A>G p.Gln643Arg p.Q643R ENST00000280772 NM_020987.3 643 cAg/cGg 0 -ATN1 UCSF GRCh37 12 7044946 7044946 + synonymous_variant Silent SNP A A G NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 667 180 581 0 ENST00000356654.4:c.516A>G p.Pro172= p.P172= ENST00000356654 NM_001007026.1 172 ccA/ccG 0 -ATRX UCSF GRCh37 X 76909677 76909681 + frameshift_variant Frame_Shift_Del DEL CTTTC CTTTC - NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 89 0 ENST00000373344.5:c.4224_4228del p.Lys1408AsnfsTer11 p.K1408Nfs*11 ENST00000373344 NM_000489.3 1408 aaGAAAGca/aaca 0 -BNIP3L UCSF GRCh37 8 26265590 26265590 + missense_variant Missense_Mutation SNP G G C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 140 39 157 0 ENST00000380629.2:c.432G>C p.Trp144Cys p.W144C ENST00000380629 NM_004331.2 144 tgG/tgC 0 -CHD4 UCSF GRCh37 12 6692539 6692539 + synonymous_variant Silent SNP T T C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 49 34 49 0 ENST00000357008.2:c.3885A>G p.Glu1295= p.E1295= ENST00000357008 NM_001273.2 1295 gaA/gaG 0 -CSNK1G1 UCSF GRCh37 15 64496629 64496639 + splice_donor_variant,intron_variant Splice_Site DEL AGGATACTTAC AGGATACTTAC GGATACTTAA NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 8 0 ENST00000303052.7:c.999+1_999+11delinsTTAAGTATCC p.X333_splice ENST00000303052 NM_022048.3 0 -EMR3 UCSF GRCh37 19 14748981 14748981 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 125 72 163 0 ENST00000253673.5:c.1420G>A p.Val474Ile p.V474I ENST00000253673 NM_032571.3 474 Gtt/Att 0 -ESX1 UCSF GRCh37 X 103495090 103495090 + missense_variant Missense_Mutation SNP G G C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 16 9 10 1 ENST00000372588.4:c.1040C>G p.Pro347Arg p.P347R ENST00000372588 NM_153448.3 347 cCt/cGt 0 -EYS UCSF GRCh37 6 66112482 66112482 + missense_variant Missense_Mutation SNP C C G NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 107 85 138 0 ENST00000370616.2:c.1073G>C p.Cys358Ser p.C358S ENST00000370616 358 tGt/tCt 0 -FAM108A1 UCSF GRCh37 19 1881408 1881408 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 8 6 11 0 ENST00000292577.7:c.158T>C p.Leu53Ser p.L53S ENST00000292577 NM_001130111.1 53 tTg/tCg 0 -FGFR4 UCSF GRCh37 5 176522719 176522719 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 20 27 36 0 ENST00000292408.4:c.1816C>T p.Arg606Trp p.R606W ENST00000292408 NM_213647.1 606 Cgg/Tgg 0 -GAD1 UCSF GRCh37 2 171700560 171700565 + inframe_deletion In_Frame_Del DEL CATATG CATATG - NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 68 0 ENST00000358196.3:c.644_649del p.Thr215_Glu217delinsLys p.T215_E217delinsK ENST00000358196 NM_000817.2 215 aCATATGaa/aaa 0 -GPRC6A UCSF GRCh37 6 117114050 117114050 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.00362,snp132_rs118009892 P26_Rec1_A Untested WXS Illumina HiSeq 399 129 373 0 ENST00000310357.3:c.2036C>T p.Thr679Met p.T679M ENST00000310357 NM_148963.2 679 aCg/aTg 0 -HSPA6 UCSF GRCh37 1 161495338 161495338 + missense_variant Missense_Mutation SNP C C A 1000g2010nov_all_0.001,1000g2011may_all_0.0102,snp132_rs41297718 P26_Rec1_A Untested WXS Illumina HiSeq 15 3 9 0 ENST00000309758.4:c.890C>A p.Thr297Lys p.T297K ENST00000309758 NM_002155.3 297 aCg/aAg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 16 21 27 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGHMBP2 UCSF GRCh37 11 68707014 68707014 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 23 11 25 0 ENST00000255078.3:c.2797G>A p.Gly933Ser p.G933S ENST00000255078 NM_002180.2 933 Ggt/Agt 0 -KIF26B UCSF GRCh37 1 245848890 245848890 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 115 102 164 0 ENST00000407071.2:c.2605G>A p.Gly869Arg p.G869R ENST00000407071 NM_018012.3 869 Ggg/Agg 0 -KIR2DS4 UCSF GRCh37 19 55349113 55349113 + synonymous_variant Silent SNP G G A snp132_rs1049284 P26_Rec1_A Untested WXS Illumina HiSeq 18 4 18 1 ENST00000339924.8:c.153G>A p.Ser51= p.S51= ENST00000339924 NM_001281971.1 51 tcG/tcA 0 -KRT8 UCSF GRCh37 12 53298675 53298675 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 13 3 25 0 ENST00000293308.6:c.91T>G p.Ser31Ala p.S31A ENST00000293308 NM_002273.3 31 Tcc/Gcc 0 -MED12 UCSF GRCh37 X 70357661 70357661 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 255 131 283 0 ENST00000374080.3:c.5912A>C p.Gln1971Pro p.Q1971P ENST00000374080 1971 cAg/cCg 0 -MURC UCSF GRCh37 9 103348678 103348678 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 197 43 156 0 ENST00000307584.5:c.1040A>G p.Gln347Arg p.Q347R ENST00000307584 NM_001018116.2 347 cAg/cGg 0 -MYBPC2 UCSF GRCh37 19 50967755 50967755 + synonymous_variant Silent SNP C C T NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 137 36 103 0 ENST00000357701.5:c.3381C>T p.Gly1127= p.G1127= ENST00000357701 NM_004533.3 1127 ggC/ggT 0 -MYO1G UCSF GRCh37 7 45009376 45009376 + synonymous_variant Silent SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 507 60 459 0 ENST00000258787.7:c.1431C>T p.Thr477= p.T477= ENST00000258787 NM_033054.2 477 acC/acT 0 -NBPF10 UCSF GRCh37 1 145293510 145293510 + missense_variant Missense_Mutation SNP C C G 1000g2010nov_all_0.173,snp132_rs4356110 P26_Rec1_A Untested WXS Illumina HiSeq 22 5 14 1 ENST00000342960.5:c.105C>G p.Phe35Leu p.F35L ENST00000342960 NM_001039703.5 35 ttC/ttG 0 -NBPF10 UCSF GRCh37 1 145293498 145293498 + missense_variant Missense_Mutation SNP G G C 1000g2010nov_all_0.245,1000g2011may_all_0.29821,snp132_rs4409714 P26_Rec1_A Untested WXS Illumina HiSeq 23 4 13 0 ENST00000342960.5:c.93G>C p.Lys31Asn p.K31N ENST00000342960 NM_001039703.5 31 aaG/aaC 0 -NBPF10 UCSF GRCh37 1 145293490 145293490 + missense_variant Missense_Mutation SNP G G C 1000g2010nov_all_0.242,1000g2011may_all_0.26292,snp132_rs6671335 P26_Rec1_A Untested WXS Illumina HiSeq 23 5 13 0 ENST00000342960.5:c.85G>C p.Ala29Pro p.A29P ENST00000342960 NM_001039703.5 29 Gca/Cca 0 -NCOA6 UCSF GRCh37 20 33338237 33338237 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 80 54 94 0 ENST00000359003.2:c.1761T>G p.Ile587Met p.I587M ENST00000359003 NM_014071.3 587 atT/atG 0 -PGGT1B UCSF GRCh37 5 114552629 114552629 + missense_variant Missense_Mutation SNP T T A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 22 12 25 0 ENST00000419445.1:c.885A>T p.Arg295Ser p.R295S ENST00000419445 NM_005023.3 295 agA/agT 0 -POTED UCSF GRCh37 21 14982676 14982676 + missense_variant Missense_Mutation SNP A A G snp132_rs2605913 P26_Rec1_A Untested WXS Illumina HiSeq 19 3 23 1 ENST00000299443.5:c.127A>G p.Met43Val p.M43V ENST00000299443 NM_174981.3 43 Atg/Gtg 0 -RBM45 UCSF GRCh37 2 178988920 178988920 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 7 0 ENST00000286070.5:c.1143delA p.Ala382LeufsTer7 p.A382Lfs*7 ENST00000286070 NM_152945.2 379 Aaa/aa 0 -RBMX UCSF GRCh37 X 135958696 135958696 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.08188,snp132_rs112800567 P26_Rec1_A Untested WXS Illumina HiSeq 20 6 20 1 ENST00000320676.7:c.507A>G p.Gly169= p.G169= ENST00000320676 NM_002139.3 169 ggA/ggG 0 -SCN9A UCSF GRCh37 2 167056179 167056179 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 56 42 92 0 ENST00000303354.6:c.4973T>C p.Ile1658Thr p.I1658T ENST00000303354 1658 aTc/aCc 0 -SELE UCSF GRCh37 1 169698648 169698648 + synonymous_variant Silent SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 219 49 201 0 ENST00000333360.7:c.882C>T p.Asn294= p.N294= ENST00000333360 NM_000450.2 294 aaC/aaT 0 -SFI1 UCSF GRCh37 22 32014359 32014359 + synonymous_variant Silent SNP C C T NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 52 57 70 0 ENST00000400288.2:c.3684C>T p.Gly1228= p.G1228= ENST00000400288 NM_001007467.2 1228 ggC/ggT 0 -SLC38A8 UCSF GRCh37 16 84050190 84050190 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 39 26 43 1 ENST00000299709.3:c.1096C>T p.Pro366Ser p.P366S ENST00000299709 NM_001080442.1 366 Cct/Tct 0 -SPP1 UCSF GRCh37 4 88903874 88903875 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 136 0 ENST00000395080.3:c.771_772del p.Ser258ArgfsTer4 p.S258Rfs*4 ENST00000395080 NM_001040058.1 257 caTTcc/cacc 0 -TBC1D5 UCSF GRCh37 3 17279718 17279718 + stop_gained Nonsense_Mutation SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 220 152 261 0 ENST00000253692.7:c.1525C>T p.Gln509Ter p.Q509* ENST00000253692 NM_014744.2 509 Caa/Taa 0 -TIAM1 UCSF GRCh37 21 32639259 32639259 + synonymous_variant Silent SNP C C T NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 50 45 68 0 ENST00000286827.3:c.30G>A p.Glu10= p.E10= ENST00000286827 NM_003253.2 10 gaG/gaA 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 16 76 73 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -TXLNB UCSF GRCh37 6 139563882 139563882 + synonymous_variant Silent SNP A A G NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 153 33 98 0 ENST00000358430.3:c.1836T>C p.Gly612= p.G612= ENST00000358430 NM_153235.3 612 ggT/ggC 0 -WNK3 UCSF GRCh37 X 54224946 54224946 + synonymous_variant Silent SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 148 42 121 0 ENST00000354646.2:c.5214C>T p.His1738= p.H1738= ENST00000354646 NM_020922.4 1738 caC/caT 0 -XPO7 UCSF GRCh37 8 21862569 21862569 + synonymous_variant Silent SNP T T C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 309 236 396 1 ENST00000252512.9:c.3234T>C p.Tyr1078= p.Y1078= ENST00000252512 NM_015024.4 1078 taT/taC 0 -ANK3 UCSF GRCh37 10 61946630 61946630 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 26 15 101 0 ENST00000280772.2:c.1928A>G p.Gln643Arg p.Q643R ENST00000280772 NM_020987.3 643 cAg/cGg 0 -ATN1 UCSF GRCh37 12 7044946 7044946 + synonymous_variant Silent SNP A A G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 268 64 581 0 ENST00000356654.4:c.516A>G p.Pro172= p.P172= ENST00000356654 NM_001007026.1 172 ccA/ccG 0 -ATRX UCSF GRCh37 X 76909677 76909681 + frameshift_variant Frame_Shift_Del DEL CTTTC CTTTC - NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 73 0 ENST00000373344.5:c.4224_4228del p.Lys1408AsnfsTer11 p.K1408Nfs*11 ENST00000373344 NM_000489.3 1408 aaGAAAGca/aaca 0 -BNIP3L UCSF GRCh37 8 26265590 26265590 + missense_variant Missense_Mutation SNP G G C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 110 24 157 0 ENST00000380629.2:c.432G>C p.Trp144Cys p.W144C ENST00000380629 NM_004331.2 144 tgG/tgC 0 -C8A UCSF GRCh37 1 57351611 57351611 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.008,1000g2011may_all_0.0213,snp132_rs77289345 P26_Rec1_B Untested WXS Illumina HiSeq 39 6 66 0 ENST00000361249.3:c.867C>T p.Phe289= p.F289= ENST00000361249 NM_000562.2 289 ttC/ttT 0 -CHD4 UCSF GRCh37 12 6692539 6692539 + synonymous_variant Silent SNP T T C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 14 11 49 0 ENST00000357008.2:c.3885A>G p.Glu1295= p.E1295= ENST00000357008 NM_001273.2 1295 gaA/gaG 0 -DYNC1H1 UCSF GRCh37 14 102468978 102468978 + synonymous_variant Silent SNP T T G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 18 6 49 0 ENST00000360184.4:c.4647T>G p.Gly1549= p.G1549= ENST00000360184 NM_001376.4 1549 ggT/ggG 0 -EFS UCSF GRCh37 14 23828664 23828664 + synonymous_variant Silent SNP T T G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 26 8 72 1 ENST00000216733.3:c.1023A>C p.Pro341= p.P341= ENST00000216733 NM_005864.3 341 ccA/ccC 0 -EMR3 UCSF GRCh37 19 14748981 14748981 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 51 38 163 0 ENST00000253673.5:c.1420G>A p.Val474Ile p.V474I ENST00000253673 NM_032571.3 474 Gtt/Att 0 -EYS UCSF GRCh37 6 66112482 66112482 + missense_variant Missense_Mutation SNP C C G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 58 57 138 0 ENST00000370616.2:c.1073G>C p.Cys358Ser p.C358S ENST00000370616 358 tGt/tCt 0 -FGFR4 UCSF GRCh37 5 176522719 176522719 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 3 16 36 0 ENST00000292408.4:c.1816C>T p.Arg606Trp p.R606W ENST00000292408 NM_213647.1 606 Cgg/Tgg 0 -GAD1 UCSF GRCh37 2 171700560 171700565 + inframe_deletion In_Frame_Del DEL CATATG CATATG - NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 44 0 ENST00000358196.3:c.644_649del p.Thr215_Glu217delinsLys p.T215_E217delinsK ENST00000358196 NM_000817.2 215 aCATATGaa/aaa 0 -GPRC6A UCSF GRCh37 6 117114050 117114050 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.00362,snp132_rs118009892 P26_Rec1_B Untested WXS Illumina HiSeq 236 59 373 0 ENST00000310357.3:c.2036C>T p.Thr679Met p.T679M ENST00000310357 NM_148963.2 679 aCg/aTg 0 -HERC3 UCSF GRCh37 4 89627987 89627987 + missense_variant Missense_Mutation SNP A A T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 170 27 388 0 ENST00000264345.3:c.3029A>T p.Glu1010Val p.E1010V ENST00000264345 1010 gAg/gTg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 10 9 27 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGHMBP2 UCSF GRCh37 11 68707014 68707014 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 9 12 25 0 ENST00000255078.3:c.2797G>A p.Gly933Ser p.G933S ENST00000255078 NM_002180.2 933 Ggt/Agt 0 -IL17RA UCSF GRCh37 22 17581248 17581248 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 148 19 309 0 ENST00000319363.6:c.427C>T p.Arg143Cys p.R143C ENST00000319363 NM_014339.6 143 Cgt/Tgt 0 -KIF26B UCSF GRCh37 1 245848890 245848890 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 36 36 164 0 ENST00000407071.2:c.2605G>A p.Gly869Arg p.G869R ENST00000407071 NM_018012.3 869 Ggg/Agg 0 -MED12 UCSF GRCh37 X 70357661 70357661 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 64 43 283 0 ENST00000374080.3:c.5912A>C p.Gln1971Pro p.Q1971P ENST00000374080 1971 cAg/cCg 0 -MURC UCSF GRCh37 9 103348678 103348678 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 146 24 156 0 ENST00000307584.5:c.1040A>G p.Gln347Arg p.Q347R ENST00000307584 NM_001018116.2 347 cAg/cGg 0 -MYBPC2 UCSF GRCh37 19 50967755 50967755 + synonymous_variant Silent SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 60 12 103 0 ENST00000357701.5:c.3381C>T p.Gly1127= p.G1127= ENST00000357701 NM_004533.3 1127 ggC/ggT 0 -NCOA6 UCSF GRCh37 20 33338237 33338237 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 39 22 94 0 ENST00000359003.2:c.1761T>G p.Ile587Met p.I587M ENST00000359003 NM_014071.3 587 atT/atG 0 -PRICKLE4 UCSF GRCh37 6 41754576 41754595 + downstream_gene_variant 3'Flank INS CGCTGCTGCCGGCGGTTCCA CGCTGCTGCCGGCGGTTCCA TCTCGCTGCTGCCGGCGGTTTCC NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 6 0 ENST00000359201 0 -RBMX UCSF GRCh37 X 135958696 135958696 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.08188,snp132_rs112800567 P26_Rec1_B Untested WXS Illumina HiSeq 13 3 20 1 ENST00000320676.7:c.507A>G p.Gly169= p.G169= ENST00000320676 NM_002139.3 169 ggA/ggG 0 -SCN9A UCSF GRCh37 2 167056179 167056179 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 35 26 92 0 ENST00000303354.6:c.4973T>C p.Ile1658Thr p.I1658T ENST00000303354 1658 aTc/aCc 0 -SELE UCSF GRCh37 1 169698648 169698648 + synonymous_variant Silent SNP G G A NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 86 32 201 0 ENST00000333360.7:c.882C>T p.Asn294= p.N294= ENST00000333360 NM_000450.2 294 aaC/aaT 0 -SFI1 UCSF GRCh37 22 32014359 32014359 + synonymous_variant Silent SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 15 18 70 0 ENST00000400288.2:c.3684C>T p.Gly1228= p.G1228= ENST00000400288 NM_001007467.2 1228 ggC/ggT 0 -SLC38A8 UCSF GRCh37 16 84050190 84050190 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 12 12 43 1 ENST00000299709.3:c.1096C>T p.Pro366Ser p.P366S ENST00000299709 NM_001080442.1 366 Cct/Tct 0 -SPP1 UCSF GRCh37 4 88903874 88903875 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 60 0 ENST00000395080.3:c.771_772del p.Ser258ArgfsTer4 p.S258Rfs*4 ENST00000395080 NM_001040058.1 257 caTTcc/cacc 0 -TBC1D5 UCSF GRCh37 3 17279718 17279718 + stop_gained Nonsense_Mutation SNP G G A NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 158 127 261 0 ENST00000253692.7:c.1525C>T p.Gln509Ter p.Q509* ENST00000253692 NM_014744.2 509 Caa/Taa 0 -TIAM1 UCSF GRCh37 21 32639259 32639259 + synonymous_variant Silent SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 22 28 68 0 ENST00000286827.3:c.30G>A p.Glu10= p.E10= ENST00000286827 NM_003253.2 10 gaG/gaA 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 2 32 73 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -TRIM3 UCSF GRCh37 11 6472156 6472156 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 29 7 74 0 ENST00000345851.3:c.1836T>G p.Phe612Leu p.F612L ENST00000345851 NM_033278.3 612 ttT/ttG 0 -TXLNB UCSF GRCh37 6 139563882 139563882 + synonymous_variant Silent SNP A A G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 58 10 98 0 ENST00000358430.3:c.1836T>C p.Gly612= p.G612= ENST00000358430 NM_153235.3 612 ggT/ggC 0 -USP51 UCSF GRCh37 X 55514172 55514172 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 135 18 193 0 ENST00000500968.3:c.1201A>G p.Thr401Ala p.T401A ENST00000500968 NM_201286.3 401 Aca/Gca 0 -WNK3 UCSF GRCh37 X 54224946 54224946 + synonymous_variant Silent SNP G G A NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 75 14 121 0 ENST00000354646.2:c.5214C>T p.His1738= p.H1738= ENST00000354646 NM_020922.4 1738 caC/caT 0 -XPO7 UCSF GRCh37 8 21862569 21862569 + synonymous_variant Silent SNP T T C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 186 184 396 1 ENST00000252512.9:c.3234T>C p.Tyr1078= p.Y1078= ENST00000252512 NM_015024.4 1078 taT/taC 0 -AKR1D1 UCSF GRCh37 7 137791441 137791441 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Pri_A Untested WXS Illumina HiSeq 182 63 221 0 ENST00000242375.3:c.667G>C p.Gly223Arg p.G223R ENST00000242375 NM_005989.3 223 Ggg/Cgg 0 -AMIGO1 UCSF GRCh37 1 110051079 110051079 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 149 67 207 0 ENST00000369862.1:c.456C>T p.Cys152= p.C152= ENST00000369862 NM_020703.2 152 tgC/tgT 0 -ATRX UCSF GRCh37 X 76938099 76938100 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P27_Pri_A Untested WXS Illumina HiSeq 121 0 ENST00000373344.5:c.2648_2649del p.Gln883ArgfsTer13 p.Q883Rfs*13 ENST00000373344 NM_000489.3 883 cAA/c 0 -BIRC6 UCSF GRCh37 2 32740799 32740823 + frameshift_variant Frame_Shift_Del DEL ATTTCATGCCATCCTAATAATCAAA ATTTCATGCCATCCTAATAATCAAA - NOVEL P27_Pri_A Untested WXS Illumina HiSeq 6 0 ENST00000421745.2:c.11312_11336del p.Ile3771SerfsTer2 p.I3771Sfs*2 ENST00000421745 NM_016252.3 3771 ATTTCATGCCATCCTAATAATCAAAag/ag 0 -CDKN2A UCSF GRCh37 9 21970993 21970993 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P27_Pri_A Untested WXS Illumina HiSeq 9 0 ENST00000304494.5:c.365del p.Gly122AlafsTer24 p.G122Afs*24 ENST00000304494 NM_000077.4 122 gGc/gc 0 -CNTNAP2 UCSF GRCh37 7 147844772 147844772 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 71 18 57 0 ENST00000361727.3:c.2744G>A p.Arg915His p.R915H ENST00000361727 NM_014141.5 915 cGc/cAc 0 -CTNMT-ND2 UCSF GRCh37 5 11364832 11364832 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_A Untested WXS Illumina HiSeq 29 25 49 0 ENST00000304623.8:c.1348A>G p.Thr450Ala p.T450A ENST00000304623 NM_001332.2 450 Acc/Gcc 0 -DMWD UCSF GRCh37 19 46287928 46287928 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 68 66 142 0 ENST00000270223.6:c.1948C>T p.Pro650Ser p.P650S ENST00000270223 NM_004943.1 650 Ccc/Tcc 0 -DNAJC11 UCSF GRCh37 1 6700009 6700009 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 45 18 63 0 ENST00000377577.5:c.1206C>T p.Ala402= p.A402= ENST00000377577 NM_018198.3 402 gcC/gcT 0 -DUOXA2 UCSF GRCh37 15 45408389 45408389 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 155 113 307 0 ENST00000323030.5:c.273C>T p.Ser91= p.S91= ENST00000323030 NM_207581.3 91 agC/agT 0 -FLG UCSF GRCh37 1 152284325 152284325 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Pri_A Untested WXS Illumina HiSeq 28 18 47 0 ENST00000368799.1:c.3037T>C p.Ser1013Pro p.S1013P ENST00000368799 NM_002016.1 1013 Tcc/Ccc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 7 25 35 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL11 UCSF GRCh37 19 55879672 55879672 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.010,1000g2011may_all_0.0145,snp132_rs4252548 P27_Pri_A Untested WXS Illumina HiSeq 17 11 31 0 ENST00000264563.2:c.335G>A p.Arg112His p.R112H ENST00000264563 NM_000641.3 112 cGc/cAc 0 -KATNB1 UCSF GRCh37 16 57787370 57787370 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 99 49 116 0 ENST00000379661.3:c.1116C>T p.Ser372= p.S372= ENST00000379661 NM_005886.2 372 tcC/tcT 0 -KRT12 UCSF GRCh37 17 39023245 39023246 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P27_Pri_A Untested WXS Illumina HiSeq 151 0 ENST00000251643.4:c.194dup p.Ser66Ter p.S66* ENST00000251643 NM_000223.3 65 tct/tCct 0 -KRTAP4-6 UCSF GRCh37 17 39296422 39296422 + synonymous_variant Silent SNP A A G NOVEL P27_Pri_A Untested WXS Illumina HiSeq 24 6 19 0 ENST00000345847.4:c.318T>C p.Arg106= p.R106= ENST00000345847 NM_030976.1 106 cgT/cgC 0 -MUC6 UCSF GRCh37 11 1031684 1031684 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 106 41 158 0 ENST00000421673.2:c.406G>A p.Gly136Ser p.G136S ENST00000421673 NM_005961.2 136 Ggc/Agc 0 -MYO18B UCSF GRCh37 22 26159269 26159269 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 105 80 213 0 ENST00000536101.1:c.111C>T p.Phe37= p.F37= ENST00000536101 37 ttC/ttT 0 -NBPF1 UCSF GRCh37 1 16918473 16918473 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.016,snp132_rs60465633 P27_Pri_A somatic WXS Sanger Illumina HiSeq 19 4 23 1 ENST00000430580.2:c.44C>T p.Thr15Met p.T15M ENST00000430580 NM_017940.4 15 aCg/aTg 0 -OGFR UCSF GRCh37 20 61444845 61444845 + synonymous_variant Silent SNP G G A snp132_rs112106909 P27_Pri_A Untested WXS Illumina HiSeq 16 3 18 1 ENST00000290291.6:c.1878G>A p.Pro626= p.P626= ENST00000290291 NM_007346.2 626 ccG/ccA 0 -OR10AG1 UCSF GRCh37 11 55735772 55735772 + missense_variant Missense_Mutation SNP A A T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 109 43 166 1 ENST00000312345.2:c.168T>A p.Asn56Lys p.N56K ENST00000312345 NM_001005491.1 56 aaT/aaA 0 -POTEH UCSF GRCh37 22 16287368 16287368 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 13 5 14 0 ENST00000343518.6:c.518G>A p.Arg173His p.R173H ENST00000343518 NM_001136213.1 173 cGt/cAt 0 -PRAMEF20 UCSF GRCh37 1 13743058 13743058 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.039,1000g2011may_all_0.0457,snp132_rs77164784 P27_Pri_A Untested WXS Illumina HiSeq 14 8 17 0 ENST00000316412.5:c.247G>A p.Asp83Asn p.D83N ENST00000316412 NM_001099852.1 83 Gat/Aat 0 -PRF1 UCSF GRCh37 10 72358862 72358862 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 41 41 107 0 ENST00000373209.2:c.615C>T p.Asn205= p.N205= ENST00000373209 205 aaC/aaT 0 -PRSS50 UCSF GRCh37 3 46753929 46753929 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 32 22 43 0 ENST00000315170.7:c.965G>T p.Trp322Leu p.W322L ENST00000315170 NM_013270.4 322 tGg/tTg 0 -PSKH2 UCSF GRCh37 8 87060758 87060758 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_A Untested WXS Illumina HiSeq 66 45 160 0 ENST00000276616.2:c.1091A>G p.Lys364Arg p.K364R ENST00000276616 NM_033126.1 364 aAa/aGa 0 -SCN2A UCSF GRCh37 2 166237141 166237141 + missense_variant Missense_Mutation SNP T T G NOVEL P27_Pri_A Untested WXS Illumina HiSeq 173 26 138 0 ENST00000283256.6:c.4348T>G p.Tyr1450Asp p.Y1450D ENST00000283256 NM_021007.2 1450 Tat/Gat 0 -SEMA4D UCSF GRCh37 9 92008491 92008491 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 29 20 76 0 ENST00000356444.2:c.494C>T p.Thr165Ile p.T165I ENST00000356444 165 aCa/aTa 0 -SLCO6A1 UCSF GRCh37 5 101735273 101735273 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 61 32 63 0 ENST00000379807.3:c.1800C>T p.Val600= p.V600= ENST00000379807 NM_173488.3 600 gtC/gtT 0 -SMARCA4 UCSF GRCh37 19 11141559 11141559 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Pri_A somatic WXS Sanger Illumina HiSeq 22 4 36 0 ENST00000344626.4:c.3536A>G p.Asn1179Ser p.N1179S ENST00000344626 NM_003072.3 1179 aAt/aGt 0 -SPHKAP UCSF GRCh37 2 228883637 228883637 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_A Untested WXS Illumina HiSeq 114 104 199 0 ENST00000392056.3:c.1933A>G p.Arg645Gly p.R645G ENST00000392056 NM_001142644.1 645 Agg/Ggg 0 -TMEM95 UCSF GRCh37 17 7258580 7258580 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 69 42 118 0 ENST00000576060.1:c.57C>T p.Phe19= p.F19= ENST00000576060 19 ttC/ttT 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_A Untested WXS Illumina HiSeq 14 71 71 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -WDR62 UCSF GRCh37 19 36585008 36585008 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 114 45 166 0 ENST00000270301.7:c.2409G>A p.Glu803= p.E803= ENST00000270301 803 gaG/gaA 0 -ZKSCAN4 UCSF GRCh37 6 28213206 28213206 + missense_variant Missense_Mutation SNP C C G NOVEL P27_Pri_A Untested WXS Illumina HiSeq 280 197 579 0 ENST00000377294.2:c.1326G>C p.Arg442Ser p.R442S ENST00000377294 NM_019110.3 442 agG/agC 0 -ZSWIM5 UCSF GRCh37 1 45516885 45516885 + synonymous_variant Silent SNP T T C NOVEL P27_Pri_A Untested WXS Illumina HiSeq 59 66 186 0 ENST00000359600.5:c.1293A>G p.Lys431= p.K431= ENST00000359600 NM_020883.1 431 aaA/aaG 0 -ABI3BP UCSF GRCh37 3 100712213 100712213 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 44 5 75 0 ENST00000284322.5:c.37G>T p.Gly13Trp p.G13W ENST00000284322 NM_015429.3 13 Ggg/Tgg 0 -AKR1D1 UCSF GRCh37 7 137791441 137791441 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 137 63 221 0 ENST00000242375.3:c.667G>C p.Gly223Arg p.G223R ENST00000242375 NM_005989.3 223 Ggg/Cgg 0 -AMIGO1 UCSF GRCh37 1 110051079 110051079 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 76 38 207 0 ENST00000369862.1:c.456C>T p.Cys152= p.C152= ENST00000369862 NM_020703.2 152 tgC/tgT 0 -ANKRD22 UCSF GRCh37 10 90591731 90591731 + missense_variant Missense_Mutation SNP A A C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 36 14 130 0 ENST00000371930.4:c.74T>G p.Val25Gly p.V25G ENST00000371930 NM_144590.2 25 gTg/gGg 0 -ATP7B UCSF GRCh37 13 52524503 52524503 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 36 4 121 0 ENST00000242839.4:c.2480G>T p.Arg827Leu p.R827L ENST00000242839 NM_000053.3 827 cGg/cTg 0 -ATRX UCSF GRCh37 X 76938099 76938100 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P27_Pri_B Untested WXS Illumina HiSeq 96 0 ENST00000373344.5:c.2648_2649del p.Gln883ArgfsTer13 p.Q883Rfs*13 ENST00000373344 NM_000489.3 883 cAA/c 0 -B3GNT3 UCSF GRCh37 19 17918779 17918779 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 24 4 69 0 ENST00000318683.6:c.163C>A p.Arg55Ser p.R55S ENST00000318683 NM_014256.3 55 Cgc/Agc 0 -CBX4 UCSF GRCh37 17 77808322 77808322 + synonymous_variant Silent SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 24 3 58 0 ENST00000269397.4:c.1119G>T p.Pro373= p.P373= ENST00000269397 NM_003655.2 373 ccG/ccT 0 -CCDC60 UCSF GRCh37 12 119773023 119773023 + synonymous_variant Silent SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 34 4 105 0 ENST00000327554.2:c.42C>A p.Pro14= p.P14= ENST00000327554 NM_178499.3 14 ccC/ccA 0 -CNTNAP2 UCSF GRCh37 7 147844772 147844772 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 34 16 57 0 ENST00000361727.3:c.2744G>A p.Arg915His p.R915H ENST00000361727 NM_014141.5 915 cGc/cAc 0 -CTNMT-ND2 UCSF GRCh37 5 11364832 11364832 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 16 10 49 0 ENST00000304623.8:c.1348A>G p.Thr450Ala p.T450A ENST00000304623 NM_001332.2 450 Acc/Gcc 0 -DMWD UCSF GRCh37 19 46287928 46287928 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 37 42 142 0 ENST00000270223.6:c.1948C>T p.Pro650Ser p.P650S ENST00000270223 NM_004943.1 650 Ccc/Tcc 0 -DNAJC11 UCSF GRCh37 1 6700009 6700009 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 20 13 63 0 ENST00000377577.5:c.1206C>T p.Ala402= p.A402= ENST00000377577 NM_018198.3 402 gcC/gcT 0 -DUOXA2 UCSF GRCh37 15 45408389 45408389 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 67 42 307 0 ENST00000323030.5:c.273C>T p.Ser91= p.S91= ENST00000323030 NM_207581.3 91 agC/agT 0 -FLG UCSF GRCh37 1 152284325 152284325 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Pri_B Untested WXS Illumina HiSeq 15 10 47 0 ENST00000368799.1:c.3037T>C p.Ser1013Pro p.S1013P ENST00000368799 NM_002016.1 1013 Tcc/Ccc 0 -FMN2 UCSF GRCh37 1 240255560 240255560 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 35 19 85 0 ENST00000319653.9:c.151G>A p.Gly51Arg p.G51R ENST00000319653 NM_020066.4 51 Ggg/Agg 0 -FUCA1 UCSF GRCh37 1 24181025 24181025 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 36 4 51 0 ENST00000374479.3:c.794G>T p.Trp265Leu p.W265L ENST00000374479 NM_000147.4 265 tGg/tTg 0 -GGA2 UCSF GRCh37 16 23481419 23481419 + synonymous_variant Silent SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 27 3 57 0 ENST00000309859.4:c.1518G>T p.Thr506= p.T506= ENST00000309859 NM_015044.4 506 acG/acT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 10 16 35 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -INPP5F UCSF GRCh37 10 121556378 121556378 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 13 3 37 0 ENST00000361976.2:c.821C>A p.Pro274Gln p.P274Q ENST00000361976 NM_014937.3 274 cCa/cAa 0 -KATNB1 UCSF GRCh37 16 57787370 57787370 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 24 27 116 0 ENST00000379661.3:c.1116C>T p.Ser372= p.S372= ENST00000379661 NM_005886.2 372 tcC/tcT 0 -KRT12 UCSF GRCh37 17 39023245 39023246 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P27_Pri_B Untested WXS Illumina HiSeq 63 0 ENST00000251643.4:c.194dup p.Ser66Ter p.S66* ENST00000251643 NM_000223.3 65 tct/tCct 0 -MATK UCSF GRCh37 19 3784435 3784435 + synonymous_variant Silent SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 19 3 28 0 ENST00000310132.6:c.147G>T p.Pro49= p.P49= ENST00000310132 NM_139355.2 49 ccG/ccT 0 -MUC6 UCSF GRCh37 11 1031684 1031684 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 46 18 158 0 ENST00000421673.2:c.406G>A p.Gly136Ser p.G136S ENST00000421673 NM_005961.2 136 Ggc/Agc 0 -MYO18B UCSF GRCh37 22 26159269 26159269 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 36 24 213 0 ENST00000536101.1:c.111C>T p.Phe37= p.F37= ENST00000536101 37 ttC/ttT 0 -NBPF1 UCSF GRCh37 1 16893813 16893813 + synonymous_variant Silent SNP A A G snp132_rs58611269 P27_Pri_B Untested WXS Illumina HiSeq 11 4 19 0 ENST00000430580.2:c.2700T>C p.Pro900= p.P900= ENST00000430580 NM_017940.4 900 ccT/ccC 0 -OPN4 UCSF GRCh37 10 88418431 88418431 + synonymous_variant Silent SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 18 3 31 0 ENST00000241891.5:c.615C>A p.Pro205= p.P205= ENST00000241891 NM_033282.3 205 ccC/ccA 0 -OR10AG1 UCSF GRCh37 11 55735772 55735772 + missense_variant Missense_Mutation SNP A A T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 55 23 166 1 ENST00000312345.2:c.168T>A p.Asn56Lys p.N56K ENST00000312345 NM_001005491.1 56 aaT/aaA 0 -PRF1 UCSF GRCh37 10 72358862 72358862 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 18 15 107 0 ENST00000373209.2:c.615C>T p.Asn205= p.N205= ENST00000373209 205 aaC/aaT 0 -PRSS50 UCSF GRCh37 3 46753929 46753929 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 19 11 43 0 ENST00000315170.7:c.965G>T p.Trp322Leu p.W322L ENST00000315170 NM_013270.4 322 tGg/tTg 0 -PSKH2 UCSF GRCh37 8 87060758 87060758 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 38 28 160 0 ENST00000276616.2:c.1091A>G p.Lys364Arg p.K364R ENST00000276616 NM_033126.1 364 aAa/aGa 0 -RASGRP2 UCSF GRCh37 11 64509576 64509576 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 24 3 73 0 ENST00000354024.3:c.82G>T p.Gly28Trp p.G28W ENST00000354024 NM_153819.1 28 Ggg/Tgg 0 -SCN2A UCSF GRCh37 2 166237141 166237141 + missense_variant Missense_Mutation SNP T T G NOVEL P27_Pri_B Untested WXS Illumina HiSeq 106 13 138 0 ENST00000283256.6:c.4348T>G p.Tyr1450Asp p.Y1450D ENST00000283256 NM_021007.2 1450 Tat/Gat 0 -SEMA4D UCSF GRCh37 9 92008491 92008491 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 28 17 76 0 ENST00000356444.2:c.494C>T p.Thr165Ile p.T165I ENST00000356444 165 aCa/aTa 0 -SH3BGRL2 UCSF GRCh37 6 80383448 80383448 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 29 4 54 0 ENST00000369838.4:c.163C>A p.Pro55Thr p.P55T ENST00000369838 NM_031469.2 55 Ccg/Acg 0 -SLCO6A1 UCSF GRCh37 5 101735273 101735273 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 37 16 63 0 ENST00000379807.3:c.1800C>T p.Val600= p.V600= ENST00000379807 NM_173488.3 600 gtC/gtT 0 -SMARCA4 UCSF GRCh37 19 11141559 11141559 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Pri_B Untested WXS Illumina HiSeq 13 5 36 0 ENST00000344626.4:c.3536A>G p.Asn1179Ser p.N1179S ENST00000344626 NM_003072.3 1179 aAt/aGt 0 -SPHKAP UCSF GRCh37 2 228883637 228883637 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 82 51 199 0 ENST00000392056.3:c.1933A>G p.Arg645Gly p.R645G ENST00000392056 NM_001142644.1 645 Agg/Ggg 0 -TMEM95 UCSF GRCh37 17 7258580 7258580 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 26 17 118 0 ENST00000576060.1:c.57C>T p.Phe19= p.F19= ENST00000576060 19 ttC/ttT 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 7 25 71 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -WDR62 UCSF GRCh37 19 36585008 36585008 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 90 40 166 0 ENST00000270301.7:c.2409G>A p.Glu803= p.E803= ENST00000270301 803 gaG/gaA 0 -ZAK UCSF GRCh37 2 174081976 174081976 + missense_variant,splice_region_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 14 3 29 0 ENST00000375213.3:c.985C>A p.Pro329Thr p.P329T ENST00000375213 NM_016653.2 329 Ccg/Acg 0 -ZKSCAN4 UCSF GRCh37 6 28213206 28213206 + missense_variant Missense_Mutation SNP C C G NOVEL P27_Pri_B Untested WXS Illumina HiSeq 146 103 579 0 ENST00000377294.2:c.1326G>C p.Arg442Ser p.R442S ENST00000377294 NM_019110.3 442 agG/agC 0 -ZNF365 UCSF GRCh37 10 64416220 64416220 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.011,1000g2011may_all_0.0406,snp132_rs76895268 P27_Pri_B Untested WXS Illumina HiSeq 49 6 71 0 ENST00000410046.3:c.1194C>T p.Asp398= p.D398= ENST00000410046 NM_199451.2 398 gaC/gaT 0 -ZNF674 UCSF GRCh37 X 46360197 46360197 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 28 4 47 0 ENST00000523374.1:c.827G>T p.Gly276Val p.G276V ENST00000523374 NM_001039891.2 276 gGg/gTg 0 -ZSWIM5 UCSF GRCh37 1 45516885 45516885 + synonymous_variant Silent SNP T T C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 35 33 186 0 ENST00000359600.5:c.1293A>G p.Lys431= p.K431= ENST00000359600 NM_020883.1 431 aaA/aaG 0 -ZYX UCSF GRCh37 7 143079428 143079428 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 34 4 89 0 ENST00000322764.5:c.296C>A p.Pro99Gln p.P99Q ENST00000322764 NM_003461.4 99 cCg/cAg 0 -AKR1D1 UCSF GRCh37 7 137791441 137791441 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 166 85 221 0 ENST00000242375.3:c.667G>C p.Gly223Arg p.G223R ENST00000242375 NM_005989.3 223 Ggg/Cgg 0 -AMIGO1 UCSF GRCh37 1 110051079 110051079 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 105 86 207 0 ENST00000369862.1:c.456C>T p.Cys152= p.C152= ENST00000369862 NM_020703.2 152 tgC/tgT 0 -ATP13A2 UCSF GRCh37 1 17316753 17316753 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 58 9 77 0 ENST00000326735.8:c.2281G>T p.Ala761Ser p.A761S ENST00000326735 761 Gcc/Tcc 0 -ATRX UCSF GRCh37 X 76938099 76938100 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 120 0 ENST00000373344.5:c.2648_2649del p.Gln883ArgfsTer13 p.Q883Rfs*13 ENST00000373344 NM_000489.3 883 cAA/c 0 -CDH2 UCSF GRCh37 18 25727679 25727679 + missense_variant Missense_Mutation SNP C C G NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 54 28 81 0 ENST00000269141.3:c.130G>C p.Val44Leu p.V44L ENST00000269141 NM_001792.3 44 Gtc/Ctc 0 -CDKN2A UCSF GRCh37 9 21970993 21970993 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 8 0 ENST00000304494.5:c.365del p.Gly122AlafsTer24 p.G122Afs*24 ENST00000304494 NM_000077.4 122 gGc/gc 0 -CNTNAP2 UCSF GRCh37 7 147844772 147844772 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 52 24 57 0 ENST00000361727.3:c.2744G>A p.Arg915His p.R915H ENST00000361727 NM_014141.5 915 cGc/cAc 0 -CTNMT-ND2 UCSF GRCh37 5 11364832 11364832 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 29 20 49 0 ENST00000304623.8:c.1348A>G p.Thr450Ala p.T450A ENST00000304623 NM_001332.2 450 Acc/Gcc 0 -DHX34 UCSF GRCh37 19 47876868 47876868 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 30 16 43 0 ENST00000328771.4:c.1975C>T p.Arg659Trp p.R659W ENST00000328771 NM_014681.5 659 Cgg/Tgg 0 -DMWD UCSF GRCh37 19 46287928 46287928 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 74 46 142 0 ENST00000270223.6:c.1948C>T p.Pro650Ser p.P650S ENST00000270223 NM_004943.1 650 Ccc/Tcc 0 -DNAJC11 UCSF GRCh37 1 6700009 6700009 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 23 17 63 0 ENST00000377577.5:c.1206C>T p.Ala402= p.A402= ENST00000377577 NM_018198.3 402 gcC/gcT 0 -DUOXA2 UCSF GRCh37 15 45408389 45408389 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 168 101 307 0 ENST00000323030.5:c.273C>T p.Ser91= p.S91= ENST00000323030 NM_207581.3 91 agC/agT 0 -EYA2 UCSF GRCh37 20 45771717 45771717 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 104 78 170 0 ENST00000327619.5:c.908G>A p.Arg303His p.R303H ENST00000327619 NM_005244.4 303 cGc/cAc 0 -FLG UCSF GRCh37 1 152284325 152284325 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 24 16 47 0 ENST00000368799.1:c.3037T>C p.Ser1013Pro p.S1013P ENST00000368799 NM_002016.1 1013 Tcc/Ccc 0 -FMN2 UCSF GRCh37 1 240255560 240255560 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 60 48 85 0 ENST00000319653.9:c.151G>A p.Gly51Arg p.G51R ENST00000319653 NM_020066.4 51 Ggg/Agg 0 -GNE UCSF GRCh37 9 36217503 36217503 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 172 69 188 0 ENST00000377902.5:c.2028C>G p.Ile676Met p.I676M ENST00000377902 NM_001190383.1 676 atC/atG 0 -GNE UCSF GRCh37 9 36217533 36217533 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 166 61 171 0 ENST00000377902.5:c.1998C>G p.Ile666Met p.I666M ENST00000377902 NM_001190383.1 666 atC/atG 0 -GPR44 UCSF GRCh37 11 60620792 60620792 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 38 22 77 0 ENST00000332539.4:c.404G>A p.Arg135Gln p.R135Q ENST00000332539 NM_004778.2 135 cGg/cAg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 12 11 35 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL11 UCSF GRCh37 19 55879672 55879672 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.010,1000g2011may_all_0.0145,snp132_rs4252548 P27_Rec1_A Untested WXS Illumina HiSeq 15 12 31 0 ENST00000264563.2:c.335G>A p.Arg112His p.R112H ENST00000264563 NM_000641.3 112 cGc/cAc 0 -KATNB1 UCSF GRCh37 16 57787370 57787370 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 54 45 116 0 ENST00000379661.3:c.1116C>T p.Ser372= p.S372= ENST00000379661 NM_005886.2 372 tcC/tcT 0 -KRT12 UCSF GRCh37 17 39023245 39023246 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 129 0 ENST00000251643.4:c.194dup p.Ser66Ter p.S66* ENST00000251643 NM_000223.3 65 tct/tCct 0 -MUC6 UCSF GRCh37 11 1031684 1031684 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 83 48 158 0 ENST00000421673.2:c.406G>A p.Gly136Ser p.G136S ENST00000421673 NM_005961.2 136 Ggc/Agc 0 -MYO18A UCSF GRCh37 17 27437604 27437604 + synonymous_variant Silent SNP G G T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 57 8 53 0 ENST00000527372.1:c.2937C>A p.Gly979= p.G979= ENST00000527372 NM_078471.3 979 ggC/ggA 0 -MYO18B UCSF GRCh37 22 26159269 26159269 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 108 72 213 0 ENST00000536101.1:c.111C>T p.Phe37= p.F37= ENST00000536101 37 ttC/ttT 0 -NBPF1 UCSF GRCh37 1 16893813 16893813 + synonymous_variant Silent SNP A A G snp132_rs58611269 P27_Rec1_A Untested WXS Illumina HiSeq 15 3 19 0 ENST00000430580.2:c.2700T>C p.Pro900= p.P900= ENST00000430580 NM_017940.4 900 ccT/ccC 0 -OR10AG1 UCSF GRCh37 11 55735772 55735772 + missense_variant Missense_Mutation SNP A A T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 86 60 166 1 ENST00000312345.2:c.168T>A p.Asn56Lys p.N56K ENST00000312345 NM_001005491.1 56 aaT/aaA 0 -PRAMEF20 UCSF GRCh37 1 13743058 13743058 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.039,1000g2011may_all_0.0457,snp132_rs77164784 P27_Rec1_A Untested WXS Illumina HiSeq 15 3 17 0 ENST00000316412.5:c.247G>A p.Asp83Asn p.D83N ENST00000316412 NM_001099852.1 83 Gat/Aat 0 -PRB1 UCSF GRCh37 12 11506350 11506350 + intron_variant Intron SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 11 3 14 0 ENST00000500254.2:c.314-26G>A *105* ENST00000500254 NM_199353.2 0 -PRF1 UCSF GRCh37 10 72358862 72358862 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 48 39 107 0 ENST00000373209.2:c.615C>T p.Asn205= p.N205= ENST00000373209 205 aaC/aaT 0 -PRSS50 UCSF GRCh37 3 46753929 46753929 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 22 17 43 0 ENST00000315170.7:c.965G>T p.Trp322Leu p.W322L ENST00000315170 NM_013270.4 322 tGg/tTg 0 -PSKH2 UCSF GRCh37 8 87060758 87060758 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 80 51 160 0 ENST00000276616.2:c.1091A>G p.Lys364Arg p.K364R ENST00000276616 NM_033126.1 364 aAa/aGa 0 -SCN2A UCSF GRCh37 2 166237141 166237141 + missense_variant Missense_Mutation SNP T T G NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 105 40 138 0 ENST00000283256.6:c.4348T>G p.Tyr1450Asp p.Y1450D ENST00000283256 NM_021007.2 1450 Tat/Gat 0 -SEMA4D UCSF GRCh37 9 92008491 92008491 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 28 32 76 0 ENST00000356444.2:c.494C>T p.Thr165Ile p.T165I ENST00000356444 165 aCa/aTa 0 -SLCO6A1 UCSF GRCh37 5 101735273 101735273 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 40 27 63 0 ENST00000379807.3:c.1800C>T p.Val600= p.V600= ENST00000379807 NM_173488.3 600 gtC/gtT 0 -SMARCA4 UCSF GRCh37 19 11141559 11141559 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Rec1_A somatic WXS Sanger Illumina HiSeq 17 5 36 0 ENST00000344626.4:c.3536A>G p.Asn1179Ser p.N1179S ENST00000344626 NM_003072.3 1179 aAt/aGt 0 -SPHKAP UCSF GRCh37 2 228883637 228883637 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 105 89 199 0 ENST00000392056.3:c.1933A>G p.Arg645Gly p.R645G ENST00000392056 NM_001142644.1 645 Agg/Ggg 0 -ST18 UCSF GRCh37 8 53084929 53084929 + synonymous_variant Silent SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 140 72 230 1 ENST00000276480.7:c.492A>G p.Ala164= p.A164= ENST00000276480 NM_014682.2 164 gcA/gcG 0 -STAT4 UCSF GRCh37 2 191937835 191937835 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 203 139 466 0 ENST00000358470.4:c.454A>G p.Asn152Asp p.N152D ENST00000358470 NM_001243835.1 152 Aac/Gac 0 -STYK1 UCSF GRCh37 12 10780287 10780287 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 184 112 300 0 ENST00000075503.3:c.670A>G p.Thr224Ala p.T224A ENST00000075503 NM_018423.2 224 Aca/Gca 0 -TH1L UCSF GRCh37 20 57569284 57569284 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 96 54 169 0 ENST00000602795.1:c.1755G>A p.Thr585= p.T585= ENST00000602795 NM_198976.2 585 acG/acA 0 -TMEM95 UCSF GRCh37 17 7258580 7258580 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 56 41 118 0 ENST00000576060.1:c.57C>T p.Phe19= p.F19= ENST00000576060 19 ttC/ttT 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 12 56 71 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -WDR62 UCSF GRCh37 19 36585008 36585008 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 73 58 166 0 ENST00000270301.7:c.2409G>A p.Glu803= p.E803= ENST00000270301 803 gaG/gaA 0 -XKRX UCSF GRCh37 X 100169574 100169574 + missense_variant Missense_Mutation SNP T T G NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 70 186 249 0 ENST00000372956.2:c.1103A>C p.Lys368Thr p.K368T ENST00000372956 368 aAg/aCg 0 -ZKSCAN4 UCSF GRCh37 6 28213206 28213206 + missense_variant Missense_Mutation SNP C C G NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 316 209 579 0 ENST00000377294.2:c.1326G>C p.Arg442Ser p.R442S ENST00000377294 NM_019110.3 442 agG/agC 0 -ZSWIM5 UCSF GRCh37 1 45516885 45516885 + synonymous_variant Silent SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 74 41 186 0 ENST00000359600.5:c.1293A>G p.Lys431= p.K431= ENST00000359600 NM_020883.1 431 aaA/aaG 0 -AKR1D1 UCSF GRCh37 7 137791441 137791441 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 168 58 221 0 ENST00000242375.3:c.667G>C p.Gly223Arg p.G223R ENST00000242375 NM_005989.3 223 Ggg/Cgg 0 -AMIGO1 UCSF GRCh37 1 110051079 110051079 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 86 41 207 0 ENST00000369862.1:c.456C>T p.Cys152= p.C152= ENST00000369862 NM_020703.2 152 tgC/tgT 0 -ATRX UCSF GRCh37 X 76938099 76938100 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 87 0 ENST00000373344.5:c.2648_2649del p.Gln883ArgfsTer13 p.Q883Rfs*13 ENST00000373344 NM_000489.3 883 cAA/c 0 -CDH2 UCSF GRCh37 18 25727679 25727679 + missense_variant Missense_Mutation SNP C C G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 57 16 81 0 ENST00000269141.3:c.130G>C p.Val44Leu p.V44L ENST00000269141 NM_001792.3 44 Gtc/Ctc 0 -CDKN2A UCSF GRCh37 9 21970993 21970993 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 23 0 ENST00000304494.5:c.365del p.Gly122AlafsTer24 p.G122Afs*24 ENST00000304494 NM_000077.4 122 gGc/gc 0 -CNTNAP2 UCSF GRCh37 7 147844772 147844772 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 36 20 57 0 ENST00000361727.3:c.2744G>A p.Arg915His p.R915H ENST00000361727 NM_014141.5 915 cGc/cAc 0 -CTNMT-ND2 UCSF GRCh37 5 11364832 11364832 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 14 15 49 0 ENST00000304623.8:c.1348A>G p.Thr450Ala p.T450A ENST00000304623 NM_001332.2 450 Acc/Gcc 0 -DHX34 UCSF GRCh37 19 47876868 47876868 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 24 13 43 0 ENST00000328771.4:c.1975C>T p.Arg659Trp p.R659W ENST00000328771 NM_014681.5 659 Cgg/Tgg 0 -DMWD UCSF GRCh37 19 46287928 46287928 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 58 40 142 0 ENST00000270223.6:c.1948C>T p.Pro650Ser p.P650S ENST00000270223 NM_004943.1 650 Ccc/Tcc 0 -DNAJC11 UCSF GRCh37 1 6700009 6700009 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 29 21 63 0 ENST00000377577.5:c.1206C>T p.Ala402= p.A402= ENST00000377577 NM_018198.3 402 gcC/gcT 0 -DUOXA2 UCSF GRCh37 15 45408389 45408389 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 101 49 307 0 ENST00000323030.5:c.273C>T p.Ser91= p.S91= ENST00000323030 NM_207581.3 91 agC/agT 0 -EYA2 UCSF GRCh37 20 45771717 45771717 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 121 37 170 0 ENST00000327619.5:c.908G>A p.Arg303His p.R303H ENST00000327619 NM_005244.4 303 cGc/cAc 0 -FLG UCSF GRCh37 1 152284325 152284325 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 19 15 47 0 ENST00000368799.1:c.3037T>C p.Ser1013Pro p.S1013P ENST00000368799 NM_002016.1 1013 Tcc/Ccc 0 -FMN2 UCSF GRCh37 1 240255560 240255560 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 34 24 85 0 ENST00000319653.9:c.151G>A p.Gly51Arg p.G51R ENST00000319653 NM_020066.4 51 Ggg/Agg 0 -GNE UCSF GRCh37 9 36217503 36217503 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 158 38 188 0 ENST00000377902.5:c.2028C>G p.Ile676Met p.I676M ENST00000377902 NM_001190383.1 676 atC/atG 0 -GNE UCSF GRCh37 9 36217533 36217533 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 154 35 171 0 ENST00000377902.5:c.1998C>G p.Ile666Met p.I666M ENST00000377902 NM_001190383.1 666 atC/atG 0 -GPR44 UCSF GRCh37 11 60620792 60620792 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 31 11 77 0 ENST00000332539.4:c.404G>A p.Arg135Gln p.R135Q ENST00000332539 NM_004778.2 135 cGg/cAg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 9 20 35 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KATNB1 UCSF GRCh37 16 57787370 57787370 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 42 20 116 0 ENST00000379661.3:c.1116C>T p.Ser372= p.S372= ENST00000379661 NM_005886.2 372 tcC/tcT 0 -KRT12 UCSF GRCh37 17 39023245 39023246 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 70 0 ENST00000251643.4:c.194dup p.Ser66Ter p.S66* ENST00000251643 NM_000223.3 65 tct/tCct 0 -MUC6 UCSF GRCh37 11 1031684 1031684 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 60 24 158 0 ENST00000421673.2:c.406G>A p.Gly136Ser p.G136S ENST00000421673 NM_005961.2 136 Ggc/Agc 0 -MYO18B UCSF GRCh37 22 26159269 26159269 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 67 46 213 0 ENST00000536101.1:c.111C>T p.Phe37= p.F37= ENST00000536101 37 ttC/ttT 0 -OR10AG1 UCSF GRCh37 11 55735772 55735772 + missense_variant Missense_Mutation SNP A A T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 78 65 166 1 ENST00000312345.2:c.168T>A p.Asn56Lys p.N56K ENST00000312345 NM_001005491.1 56 aaT/aaA 0 -PRF1 UCSF GRCh37 10 72358862 72358862 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 35 20 107 0 ENST00000373209.2:c.615C>T p.Asn205= p.N205= ENST00000373209 205 aaC/aaT 0 -PRSS50 UCSF GRCh37 3 46753929 46753929 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 12 14 43 0 ENST00000315170.7:c.965G>T p.Trp322Leu p.W322L ENST00000315170 NM_013270.4 322 tGg/tTg 0 -PSKH2 UCSF GRCh37 8 87060758 87060758 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 62 35 160 0 ENST00000276616.2:c.1091A>G p.Lys364Arg p.K364R ENST00000276616 NM_033126.1 364 aAa/aGa 0 -SCN2A UCSF GRCh37 2 166237141 166237141 + missense_variant Missense_Mutation SNP T T G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 95 34 138 0 ENST00000283256.6:c.4348T>G p.Tyr1450Asp p.Y1450D ENST00000283256 NM_021007.2 1450 Tat/Gat 0 -SEMA4D UCSF GRCh37 9 92008491 92008491 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 31 28 76 0 ENST00000356444.2:c.494C>T p.Thr165Ile p.T165I ENST00000356444 165 aCa/aTa 0 -SLCO6A1 UCSF GRCh37 5 101735273 101735273 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 45 26 63 0 ENST00000379807.3:c.1800C>T p.Val600= p.V600= ENST00000379807 NM_173488.3 600 gtC/gtT 0 -SMARCA4 UCSF GRCh37 19 11141559 11141559 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 13 9 36 0 ENST00000344626.4:c.3536A>G p.Asn1179Ser p.N1179S ENST00000344626 NM_003072.3 1179 aAt/aGt 0 -SPHKAP UCSF GRCh37 2 228883637 228883637 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 122 66 199 0 ENST00000392056.3:c.1933A>G p.Arg645Gly p.R645G ENST00000392056 NM_001142644.1 645 Agg/Ggg 0 -ST18 UCSF GRCh37 8 53084929 53084929 + synonymous_variant Silent SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 131 48 230 1 ENST00000276480.7:c.492A>G p.Ala164= p.A164= ENST00000276480 NM_014682.2 164 gcA/gcG 0 -STAT4 UCSF GRCh37 2 191937835 191937835 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 212 86 466 0 ENST00000358470.4:c.454A>G p.Asn152Asp p.N152D ENST00000358470 NM_001243835.1 152 Aac/Gac 0 -STYK1 UCSF GRCh37 12 10780287 10780287 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 165 68 300 0 ENST00000075503.3:c.670A>G p.Thr224Ala p.T224A ENST00000075503 NM_018423.2 224 Aca/Gca 0 -TH1L UCSF GRCh37 20 57569284 57569284 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 62 20 169 0 ENST00000602795.1:c.1755G>A p.Thr585= p.T585= ENST00000602795 NM_198976.2 585 acG/acA 0 -TMEM95 UCSF GRCh37 17 7258580 7258580 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 44 29 118 0 ENST00000576060.1:c.57C>T p.Phe19= p.F19= ENST00000576060 19 ttC/ttT 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 5 29 71 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -WDR62 UCSF GRCh37 19 36585008 36585008 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 83 57 166 0 ENST00000270301.7:c.2409G>A p.Glu803= p.E803= ENST00000270301 803 gaG/gaA 0 -XKRX UCSF GRCh37 X 100169574 100169574 + missense_variant Missense_Mutation SNP T T G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 68 136 249 0 ENST00000372956.2:c.1103A>C p.Lys368Thr p.K368T ENST00000372956 368 aAg/aCg 0 -ZKSCAN4 UCSF GRCh37 6 28213206 28213206 + missense_variant Missense_Mutation SNP C C G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 218 149 579 0 ENST00000377294.2:c.1326G>C p.Arg442Ser p.R442S ENST00000377294 NM_019110.3 442 agG/agC 0 -ZSWIM5 UCSF GRCh37 1 45516885 45516885 + synonymous_variant Silent SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 42 48 186 0 ENST00000359600.5:c.1293A>G p.Lys431= p.K431= ENST00000359600 NM_020883.1 431 aaA/aaG 0 -AMPD1 UCSF GRCh37 1 115222309 115222309 + missense_variant Missense_Mutation SNP C C T NOVEL P28_Pri Untested WXS Illumina HiSeq 53 37 81 0 ENST00000520113.2:c.887G>A p.Arg296His p.R296H ENST00000520113 296 cGc/cAc 0 -AMZ2 UCSF GRCh37 17 66250631 66250631 + missense_variant Missense_Mutation SNP T T C NOVEL P28_Pri Untested WXS Illumina HiSeq 114 47 171 0 ENST00000359904.3:c.673T>C p.Ser225Pro p.S225P ENST00000359904 NM_016627.4 225 Tct/Cct 0 -ARSI UCSF GRCh37 5 149677736 149677736 + missense_variant Missense_Mutation SNP G G A NOVEL P28_Pri Untested WXS Illumina HiSeq 97 60 145 0 ENST00000328668.7:c.751C>T p.Arg251Cys p.R251C ENST00000328668 NM_001012301.2 251 Cgc/Tgc 0 -ATRX UCSF GRCh37 X 76937611 76937615 + frameshift_variant Frame_Shift_Del DEL CTTTT CTTTT - NOVEL P28_Pri Untested WXS Illumina HiSeq 180 0 ENST00000373344.5:c.3133_3137delAAAAG p.Lys1045Ter p.K1045* ENST00000373344 NM_000489.3 1045 AAAAGt/t 0 -C20orf96(NM_080571:exon2:c.17+2->TA) UCSF GRCh37 20 271226 271227 + splice_region_variant,intron_variant Splice_Region INS - - TA NOVEL P28_Pri Untested WXS Illumina HiSeq 7 0 ENST00000360321.2:c.20+6_20+7dup p.X7_splice ENST00000360321 NM_153269.2 0 -CYB5D2 UCSF GRCh37 17 4053185 4053185 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P28_Pri Untested WXS Illumina HiSeq 30 10 50 0 ENST00000301391.3:c.251G>A p.Gly84Asp p.G84D ENST00000301391 NM_144611.3 84 gGc/gAc 0 -FLG UCSF GRCh37 1 152284806 152284806 + synonymous_variant Silent SNP C C T snp132_rs71625190 P28_Pri Untested WXS Illumina HiSeq 16 7 15 1 ENST00000368799.1:c.2556G>A p.Arg852= p.R852= ENST00000368799 NM_002016.1 852 agG/agA 0 -FZR1 UCSF GRCh37 19 3533340 3533340 + missense_variant Missense_Mutation SNP C C G NOVEL P28_Pri Untested WXS Illumina HiSeq 83 12 72 0 ENST00000395095.3:c.1291C>G p.Pro431Ala p.P431A ENST00000395095 NM_001136198.1 431 Ccc/Gcc 0 -GPR98 UCSF GRCh37 5 90085648 90085648 + missense_variant Missense_Mutation SNP G G A NOVEL P28_Pri Untested WXS Illumina HiSeq 29 18 41 0 ENST00000405460.2:c.14023G>A p.Gly4675Ser p.G4675S ENST00000405460 NM_032119.3 4675 Ggc/Agc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P28_Pri Untested WXS Illumina HiSeq 13 13 24 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KRTAP4-9 UCSF GRCh37 17 39261693 39261693 + missense_variant Missense_Mutation SNP A A T 1000g2010nov_all_0.281,snp132_rs113059833 P28_Pri Untested WXS Illumina HiSeq 32 5 41 0 ENST00000391415.1:c.53A>T p.Asp18Val p.D18V ENST00000391415 NM_001146041.1 18 gAc/gTc 0 -LOXHD1 UCSF GRCh37 18 44152078 44152078 + missense_variant Missense_Mutation SNP A A G NOVEL P28_Pri Untested WXS Illumina HiSeq 107 64 165 0 ENST00000398722.4:c.1184T>C p.Leu395Pro p.L395P ENST00000398722 395 cTa/cCa 0 -MICAL2 UCSF GRCh37 11 12263921 12263921 + missense_variant Missense_Mutation SNP C C T NOVEL P28_Pri Untested WXS Illumina HiSeq 99 56 138 0 ENST00000256194.4:c.2498C>T p.Ala833Val p.A833V ENST00000256194 NM_014632.2 833 gCg/gTg 0 -MLL3 UCSF GRCh37 7 151945313 151945313 + synonymous_variant Silent SNP A A G NOVEL P28_Pri Untested WXS Illumina HiSeq 22 3 22 1 ENST00000262189.6:c.2206T>C p.Leu736= p.L736= ENST00000262189 NM_170606.2 736 Ttg/Ctg 0 -PKP2 UCSF GRCh37 12 33031211 33031211 + synonymous_variant Silent SNP C C T NOVEL P28_Pri Untested WXS Illumina HiSeq 76 63 153 0 ENST00000070846.6:c.603G>A p.Gly201= p.G201= ENST00000070846 NM_004572.3 201 ggG/ggA 0 -RAPGEF4 UCSF GRCh37 2 173679042 173679042 + synonymous_variant Silent SNP G G A NOVEL P28_Pri Untested WXS Illumina HiSeq 204 147 299 1 ENST00000397081.3:c.333G>A p.Thr111= p.T111= ENST00000397081 NM_007023.3 111 acG/acA 0 -SLC18A2 UCSF GRCh37 10 119026521 119026521 + missense_variant Missense_Mutation SNP T T C NOVEL P28_Pri Untested WXS Illumina HiSeq 117 75 190 0 ENST00000298472.5:c.1097T>C p.Ile366Thr p.I366T ENST00000298472 NM_003054.4 366 aTa/aCa 0 -AFG2A UCSF GRCh37 4 123848842 123848842 + missense_variant Missense_Mutation SNP A A T NOVEL P28_Pri Untested WXS Illumina HiSeq 168 123 296 0 ENST00000274008.4:c.217A>T p.Asn73Tyr p.N73Y ENST00000274008 NM_145207.2 73 Aac/Tac 0 -THAP5 UCSF GRCh37 7 108205526 108205526 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P28_Pri Untested WXS Illumina HiSeq 7 0 ENST00000415914.3:c.297delA p.Lys99AsnfsTer25 p.K99Nfs*25 ENST00000415914 NM_001130475.1 99 aaA/aa 0 -TP53 UCSF GRCh37 17 7578541 7578541 + missense_variant Missense_Mutation SNP A A C NOVEL P28_Pri Untested WXS Illumina HiSeq 11 63 74 0 ENST00000269305.4:c.389T>G p.Leu130Arg p.L130R ENST00000269305 NM_001126112.2 130 cTc/cGc 0 -AMPD1 UCSF GRCh37 1 115222309 115222309 + missense_variant Missense_Mutation SNP C C T NOVEL P28_Rec Untested WXS Illumina HiSeq 48 36 81 0 ENST00000520113.2:c.887G>A p.Arg296His p.R296H ENST00000520113 296 cGc/cAc 0 -AMZ2 UCSF GRCh37 17 66250631 66250631 + missense_variant Missense_Mutation SNP T T C NOVEL P28_Rec Untested WXS Illumina HiSeq 148 76 171 0 ENST00000359904.3:c.673T>C p.Ser225Pro p.S225P ENST00000359904 NM_016627.4 225 Tct/Cct 0 -ARSI UCSF GRCh37 5 149677736 149677736 + missense_variant Missense_Mutation SNP G G A NOVEL P28_Rec Untested WXS Illumina HiSeq 81 76 145 0 ENST00000328668.7:c.751C>T p.Arg251Cys p.R251C ENST00000328668 NM_001012301.2 251 Cgc/Tgc 0 -ATRX UCSF GRCh37 X 76937611 76937615 + frameshift_variant Frame_Shift_Del DEL CTTTT CTTTT - NOVEL P28_Rec Untested WXS Illumina HiSeq 198 0 ENST00000373344.5:c.3133_3137delAAAAG p.Lys1045Ter p.K1045* ENST00000373344 NM_000489.3 1045 AAAAGt/t 0 -CPNE2 UCSF GRCh37 16 57180218 57180218 + synonymous_variant Silent SNP T T C NOVEL P28_Rec Untested WXS Illumina HiSeq 254 29 189 0 ENST00000290776.8:c.1524T>C p.Phe508= p.F508= ENST00000290776 NM_152727.5 508 ttT/ttC 0 -CYB5D2 UCSF GRCh37 17 4053185 4053185 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P28_Rec Untested WXS Illumina HiSeq 28 27 50 0 ENST00000301391.3:c.251G>A p.Gly84Asp p.G84D ENST00000301391 NM_144611.3 84 gGc/gAc 0 -DENND2D UCSF GRCh37 1 111741364 111741364 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P28_Rec Untested WXS Illumina HiSeq 85 10 87 0 ENST00000357640.4:c.244C>T p.Arg82Trp p.R82W ENST00000357640 NM_024901.4 82 Cgg/Tgg 0 -DNMT1 UCSF GRCh37 19 10262139 10262139 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P28_Rec Untested WXS Illumina HiSeq 8 0 ENST00000340748.4:c.2152delA p.Met718CysfsTer59 p.M718Cfs*59 ENST00000340748 718 Atg/tg 0 -FZR1 UCSF GRCh37 19 3533340 3533340 + missense_variant Missense_Mutation SNP C C G NOVEL P28_Rec Untested WXS Illumina HiSeq 107 30 72 0 ENST00000395095.3:c.1291C>G p.Pro431Ala p.P431A ENST00000395095 NM_001136198.1 431 Ccc/Gcc 0 -GCN1L1 UCSF GRCh37 12 120612953 120612984 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL GAAATCCTATACCTGAGAGGACGCTCATCTTC GAAATCCTATACCTGAGAGGACGCTCATCTTC AAATCCTATACCTGGGAGGACGCTCATCTTT NOVEL P28_Rec Untested WXS Illumina HiSeq 7 0 ENST00000300648.6:c.1074_1093+12delinsAAAGATGAGCGTCCTCCCAGGTATAGGATTT p.X358_splice ENST00000300648 NM_006836.1 358 0 -GPR98 UCSF GRCh37 5 90085648 90085648 + missense_variant Missense_Mutation SNP G G A NOVEL P28_Rec Untested WXS Illumina HiSeq 31 18 41 0 ENST00000405460.2:c.14023G>A p.Gly4675Ser p.G4675S ENST00000405460 NM_032119.3 4675 Ggc/Agc 0 -HNRNPCL1 UCSF GRCh37 1 12907762 12907762 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.028,1000g2011may_all_0.0727,snp132_rs57026768 P28_Rec Untested WXS Illumina HiSeq 16 4 23 1 ENST00000317869.6:c.381A>G p.Pro127= p.P127= ENST00000317869 NM_001013631.1 127 ccA/ccG 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P28_Rec Untested WXS Illumina HiSeq 8 16 24 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LOXHD1 UCSF GRCh37 18 44152078 44152078 + missense_variant Missense_Mutation SNP A A G NOVEL P28_Rec Untested WXS Illumina HiSeq 96 72 165 0 ENST00000398722.4:c.1184T>C p.Leu395Pro p.L395P ENST00000398722 395 cTa/cCa 0 -MCM7 UCSF GRCh37 7 99697025 99697041 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL ACCTAAAGGAGAAGAAC ACCTAAAGGAGAAGAAC CCCAAAAGGAAAAAAA NOVEL P28_Rec Untested WXS Illumina HiSeq 6 0 ENST00000303887.5:c.277-15_278delinsTTTTTTTCCTTTTGGG p.X93_splice ENST00000303887 NM_001278595.1 0 -MICAL2 UCSF GRCh37 11 12263921 12263921 + missense_variant Missense_Mutation SNP C C T NOVEL P28_Rec Untested WXS Illumina HiSeq 98 51 138 0 ENST00000256194.4:c.2498C>T p.Ala833Val p.A833V ENST00000256194 NM_014632.2 833 gCg/gTg 0 -NMT2 UCSF GRCh37 10 15172208 15172208 + missense_variant Missense_Mutation SNP G G T NOVEL P28_Rec Untested WXS Illumina HiSeq 17 3 19 0 ENST00000378165.4:c.823C>A p.Leu275Met p.L275M ENST00000378165 NM_004808.2 275 Ctg/Atg 0 -PKP2 UCSF GRCh37 12 33031211 33031211 + synonymous_variant Silent SNP C C T NOVEL P28_Rec Untested WXS Illumina HiSeq 92 63 153 0 ENST00000070846.6:c.603G>A p.Gly201= p.G201= ENST00000070846 NM_004572.3 201 ggG/ggA 0 -POLA1 UCSF GRCh37 X 24833131 24833131 + missense_variant Missense_Mutation SNP G G T NOVEL P28_Rec Untested WXS Illumina HiSeq 21 3 23 0 ENST00000379059.3:c.3314G>T p.Arg1105Leu p.R1105L ENST00000379059 NM_016937.3 1105 cGg/cTg 0 -POLR3B UCSF GRCh37 12 106820973 106820987 + splice_acceptor_variant,coding_sequence_variant Splice_Site INS AGCTTTTATCTCTTC AGCTTTTATCTCTTC TAGCTTTTTTCTTTTT NOVEL P28_Rec Untested WXS Illumina HiSeq 6 0 ENST00000228347.4:c.1102-2_1114delinsTAGCTTTTTTCTTTTT p.X368_splice ENST00000228347 NM_018082.5 0 -RAPGEF4 UCSF GRCh37 2 173679042 173679042 + synonymous_variant Silent SNP G G A NOVEL P28_Rec Untested WXS Illumina HiSeq 202 158 299 1 ENST00000397081.3:c.333G>A p.Thr111= p.T111= ENST00000397081 NM_007023.3 111 acG/acA 0 -RHPN1 UCSF GRCh37 8 144460938 144460938 + synonymous_variant Silent SNP C C T NOVEL P28_Rec Untested WXS Illumina HiSeq 228 381 370 0 ENST00000289013.6:c.532C>T p.Leu178= p.L178= ENST00000289013 NM_052924.2 178 Ctg/Ttg 0 -RPL18 UCSF GRCh37 19 49119149 49119149 + missense_variant Missense_Mutation SNP G G T NOVEL P28_Rec Untested WXS Illumina HiSeq 24 3 42 0 ENST00000549920.1:c.476C>A p.Pro159Gln p.P159Q ENST00000549920 NM_000979.3 159 cCg/cAg 0 -SDK1 UCSF GRCh37 7 4304761 4304761 + synonymous_variant Silent SNP G G T NOVEL P28_Rec Untested WXS Illumina HiSeq 25 3 45 0 ENST00000404826.2:c.6387G>T p.Thr2129= p.T2129= ENST00000404826 NM_152744.3 2129 acG/acT 0 -SERPINB3 UCSF GRCh37 18 61326651 61326651 + synonymous_variant Silent SNP T T C NOVEL P28_Rec Untested WXS Illumina HiSeq 26 9 50 0 ENST00000283752.5:c.333A>G p.Lys111= p.K111= ENST00000283752 NM_006919.2 111 aaA/aaG 0 -SERPINI1 UCSF GRCh37 3 167508159 167508159 + splice_acceptor_variant Splice_Site SNP G G T NOVEL P28_Rec Untested WXS Illumina HiSeq 35 4 51 0 ENST00000295777.5:c.251-1G>T p.X84_splice ENST00000295777 NM_005025.4 0 -SLC18A2 UCSF GRCh37 10 119026521 119026521 + missense_variant Missense_Mutation SNP T T C NOVEL P28_Rec Untested WXS Illumina HiSeq 91 86 190 0 ENST00000298472.5:c.1097T>C p.Ile366Thr p.I366T ENST00000298472 NM_003054.4 366 aTa/aCa 0 -AFG2A UCSF GRCh37 4 123848842 123848842 + missense_variant Missense_Mutation SNP A A T NOVEL P28_Rec Untested WXS Illumina HiSeq 180 146 296 0 ENST00000274008.4:c.217A>T p.Asn73Tyr p.N73Y ENST00000274008 NM_145207.2 73 Aac/Tac 0 -TCEAL3 UCSF GRCh37 X 102864442 102864442 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.02464 P28_Rec Untested WXS Illumina HiSeq 12 5 12 0 ENST00000243286.3:c.450A>G p.Gln150= p.Q150= ENST00000243286 NM_001006933.1 150 caA/caG 0 -TP53 UCSF GRCh37 17 7578541 7578541 + missense_variant Missense_Mutation SNP A A C NOVEL P28_Rec Untested WXS Illumina HiSeq 7 94 74 0 ENST00000269305.4:c.389T>G p.Leu130Arg p.L130R ENST00000269305 NM_001126112.2 130 cTc/cGc 0 -ADNP UCSF GRCh37 20 49508204 49508204 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P29_Pri Untested WXS Illumina HiSeq 7 0 ENST00000349014.3:c.3047delA p.Lys1016ArgfsTer11 p.K1016Rfs*11 ENST00000349014 NM_001282532.1 1016 aAg/ag 0 -AP2A1 UCSF GRCh37 19 50306222 50306222 + missense_variant Missense_Mutation SNP A A G NOVEL P29_Pri Untested WXS Illumina HiSeq 13 21 25 0 ENST00000359032.5:c.2197A>G p.Ile733Val p.I733V ENST00000359032 NM_014203.2 733 Atc/Gtc 0 -ATRX UCSF GRCh37 X 76813051 76813084 + frameshift_variant Frame_Shift_Del DEL AACAACTCGAAAAGACAGTGACTGCTTAGTTACT AACAACTCGAAAAGACAGTGACTGCTTAGTTACT - NOVEL P29_Pri Untested WXS Illumina HiSeq 33 0 ENST00000373344.5:c.6537_6570del p.Val2180IlefsTer11 p.V2180Ifs*11 ENST00000373344 NM_000489.3 2179 caAGTAACTAAGCAGTCACTGTCTTTTCGAGTTGTT/ca 0 -CAPN9 UCSF GRCh37 1 230903389 230903389 + synonymous_variant Silent SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 132 87 236 0 ENST00000271971.2:c.639C>T p.Pro213= p.P213= ENST00000271971 NM_006615.2 213 ccC/ccT 0 -CDC25B UCSF GRCh37 20 3785568 3785568 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 140 262 248 0 ENST00000245960.5:c.1703G>A p.Arg568Gln p.R568Q ENST00000245960 NM_021873.2 568 cGg/cAg 0 -COL4A4 UCSF GRCh37 2 227966580 227966580 + splice_donor_variant Splice_Site SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 83 45 138 0 ENST00000396625.3:c.975+1G>A p.X325_splice ENST00000396625 NM_000092.4 0 -CUX1 UCSF GRCh37 7 101892124 101892124 + synonymous_variant Silent SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 36 5 38 0 ENST00000292535.7:c.4320G>A p.Pro1440= p.P1440= ENST00000292535 NM_181552.3 1440 ccG/ccA 0 -DNAH5 UCSF GRCh37 5 13830849 13830849 + missense_variant Missense_Mutation SNP C C A NOVEL P29_Pri Untested WXS Illumina HiSeq 139 102 228 0 ENST00000265104.4:c.5918G>T p.Ser1973Ile p.S1973I ENST00000265104 NM_001369.2 1973 aGc/aTc 0 -DMT-ND1 UCSF GRCh37 5 140052430 140052430 + missense_variant Missense_Mutation SNP G G T 1000g2010nov_all_0.231,snp132_rs112925426 P29_Pri Untested WXS Illumina HiSeq 36 4 29 0 ENST00000542735.1:c.204C>A p.Asp68Glu p.D68E ENST00000542735 NM_194249.2 68 gaC/gaA 0 -DMT-ND1 UCSF GRCh37 5 140052424 140052424 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.301,snp132_rs72800921 P29_Pri Untested WXS Illumina HiSeq 35 4 27 1 ENST00000542735.1:c.210C>T p.Tyr70= p.Y70= ENST00000542735 NM_194249.2 70 taC/taT 0 -DPP6 UCSF GRCh37 7 153749963 153749963 + missense_variant Missense_Mutation SNP G G A snp132_rs2533731 P29_Pri Untested WXS Illumina HiSeq 17 4 9 0 ENST00000377770.3:c.58G>A p.Ala20Thr p.A20T ENST00000377770 20 Gcg/Acg 0 -EFTUD2 UCSF GRCh37 17 42937310 42937310 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 19 19 46 0 ENST00000426333.2:c.1823G>A p.Arg608His p.R608H ENST00000426333 NM_001142605.1 608 cGc/cAc 0 -EPHA8 UCSF GRCh37 1 22903034 22903034 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 164 164 301 0 ENST00000166244.3:c.484C>T p.Arg162Trp p.R162W ENST00000166244 NM_020526.3 162 Cgg/Tgg 0 -FAM114A1 UCSF GRCh37 4 38916617 38916617 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 119 64 205 0 ENST00000358869.2:c.868G>A p.Gly290Arg p.G290R ENST00000358869 NM_138389.2 290 Ggg/Agg 0 -FAM83H UCSF GRCh37 8 144808239 144808239 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 372 136 319 0 ENST00000388913.3:c.3392G>A p.Arg1131His p.R1131H ENST00000388913 NM_198488.3 1131 cGc/cAc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 11 18 20 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL1RL2 UCSF GRCh37 2 102851729 102851729 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 58 54 137 0 ENST00000264257.2:c.1670G>A p.Arg557His p.R557H ENST00000264257 NM_003854.2 557 cGc/cAc 0 -INTS1 UCSF GRCh37 7 1539622 1539622 + synonymous_variant Silent SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 69 62 151 0 ENST00000404767.3:c.582C>T p.Ile194= p.I194= ENST00000404767 NM_001080453.2 194 atC/atT 0 -KCMT-ND1 UCSF GRCh37 X 48826075 48826075 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 17 66 92 0 ENST00000218176.3:c.604G>A p.Ala202Thr p.A202T ENST00000218176 NM_004979.4 202 Gcc/Acc 0 -KEL UCSF GRCh37 7 142650990 142650990 + synonymous_variant Silent SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 286 105 275 0 ENST00000355265.2:c.978G>A p.Pro326= p.P326= ENST00000355265 NM_000420.2 326 ccG/ccA 0 -KIAA1267 UCSF GRCh37 17 44249468 44249469 + protein_altering_variant In_Frame_Ins INS - - TGA NOVEL P29_Pri Untested WXS Illumina HiSeq 31 0 ENST00000574590.1:c.41_42insTCA p.Glu14delinsAspGln p.E14delinsDQ ENST00000574590 NM_001193465.1 14 gaa/gaTCAa 0 -KRT15 UCSF GRCh37 17 39673204 39673204 + missense_variant Missense_Mutation SNP C C A NOVEL P29_Pri Untested WXS Illumina HiSeq 34 31 67 0 ENST00000254043.3:c.594G>T p.Glu198Asp p.E198D ENST00000254043 NM_002275.3 198 gaG/gaT 0 -LAMB1 UCSF GRCh37 7 107626783 107626783 + missense_variant Missense_Mutation SNP A A T NOVEL P29_Pri Untested WXS Illumina HiSeq 182 120 291 0 ENST00000222399.6:c.449T>A p.Ile150Lys p.I150K ENST00000222399 NM_002291.2 150 aTa/aAa 0 -MEIS2 UCSF GRCh37 15 37376018 37376018 + synonymous_variant Silent SNP G G C NOVEL P29_Pri Untested WXS Illumina HiSeq 104 61 130 0 ENST00000561208.1:c.708C>G p.Ser236= p.S236= ENST00000561208 236 tcC/tcG 0 -MRVI1 UCSF GRCh37 11 10625991 10625991 + missense_variant Missense_Mutation SNP G G C NOVEL P29_Pri Untested WXS Illumina HiSeq 25 14 39 0 ENST00000423302.2:c.1704C>G p.Asn568Lys p.N568K ENST00000423302 NM_130385.3 568 aaC/aaG 0 -OR7C1 UCSF GRCh37 19 14910208 14910208 + synonymous_variant Silent SNP C C A NOVEL P29_Pri Untested WXS Illumina HiSeq 88 57 173 0 ENST00000248073.2:c.741G>T p.Val247= p.V247= ENST00000248073 NM_198944.1 247 gtG/gtT 0 -PIK3CG UCSF GRCh37 7 106509501 106509501 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 197 143 383 0 ENST00000359195.3:c.1495G>A p.Ala499Thr p.A499T ENST00000359195 NM_002649.2 499 Gct/Act 0 -POLL UCSF GRCh37 10 103345866 103345866 + stop_gained Nonsense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 17 11 27 0 ENST00000299206.4:c.163C>T p.Arg55Ter p.R55* ENST00000299206 55 Cga/Tga 0 -POLR1A UCSF GRCh37 2 86260786 86260786 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 1 15 22 0 ENST00000263857.6:c.4159C>T p.Arg1387Trp p.R1387W ENST00000263857 1387 Cgg/Tgg 0 -PSMD13 UCSF GRCh37 11 251848 251848 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 69 48 122 0 ENST00000532097.1:c.947C>T p.Ser316Leu p.S316L ENST00000532097 NM_002817.3 316 tCg/tTg 0 -RETNLB UCSF GRCh37 3 108474653 108474653 + missense_variant Missense_Mutation SNP G G T NOVEL P29_Pri Untested WXS Illumina HiSeq 107 45 152 0 ENST00000295755.6:c.308C>A p.Thr103Asn p.T103N ENST00000295755 NM_032579.2 103 aCc/aAc 0 -RIN3 UCSF GRCh37 14 93118725 93118725 + missense_variant Missense_Mutation SNP A A G NOVEL P29_Pri Untested WXS Illumina HiSeq 36 29 68 0 ENST00000216487.7:c.1331A>G p.His444Arg p.H444R ENST00000216487 NM_024832.3 444 cAc/cGc 0 -RNF167 UCSF GRCh37 17 4846190 4846190 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 17 182 216 0 ENST00000262482.6:c.424G>A p.Glu142Lys p.E142K ENST00000262482 NM_015528.1 142 Gag/Aag 0 -RYK UCSF GRCh37 3 133928607 133928607 + missense_variant Missense_Mutation SNP T T C NOVEL P29_Pri Untested WXS Illumina HiSeq 77 44 113 0 ENST00000296084.4:c.515A>G p.Asn172Ser p.N172S ENST00000296084 NM_001005861.2 172 aAc/aGc 0 -STAG2 UCSF GRCh37 X 123200019 123200060 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TTACAGTGCCCATGACCTTTCAAAGTGGGATTTATTTGCTTG TTACAGTGCCCATGACCTTTCAAAGTGGGATTTATTTGCTTG ACAGGGCCCATGCCCTTTCAAAGGGGGATTTTTTTTTTTT NOVEL P29_Pri Untested WXS Illumina HiSeq 6 0 ENST00000371144.3:c.2097-6_2132delinsACAGGGCCCATGCCCTTTCAAAGGGGGATTTTTTTTTTTT p.X699_splice ENST00000371144 NM_001042751.1 0 -TEX11 UCSF GRCh37 X 69849501 69849501 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 10 100 149 0 ENST00000344304.3:c.1613C>T p.Pro538Leu p.P538L ENST00000344304 538 cCt/cTt 0 -THEG UCSF GRCh37 19 367122 367122 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 34 44 91 0 ENST00000342640.4:c.856C>T p.Pro286Ser p.P286S ENST00000342640 NM_016585.4 286 Ccc/Tcc 0 -TMCC3 UCSF GRCh37 12 94975905 94975905 + missense_variant Missense_Mutation SNP A A T NOVEL P29_Pri Untested WXS Illumina HiSeq 194 112 329 0 ENST00000261226.4:c.488T>A p.Ile163Lys p.I163K ENST00000261226 NM_020698.2 163 aTa/aAa 0 -TMEM176A UCSF GRCh37 7 150498790 150498790 + missense_variant Missense_Mutation SNP G G T NOVEL P29_Pri Untested WXS Illumina HiSeq 43 12 22 0 ENST00000004103.3:c.152G>T p.Ser51Ile p.S51I ENST00000004103 NM_018487.2 51 aGc/aTc 0 -TMTC4 UCSF GRCh37 13 101320994 101320994 + start_lost Translation_Start_Site SNP T T C NOVEL P29_Pri Untested WXS Illumina HiSeq 15 16 37 0 ENST00000376234.3:c.1A>G p.Met1? p.M1? ENST00000376234 NM_001079669.1 1 Atg/Gtg 0 -TP53 UCSF GRCh37 17 7577115 7577115 + missense_variant Missense_Mutation SNP A A G NOVEL P29_Pri Untested WXS Illumina HiSeq 6 101 153 0 ENST00000269305.4:c.823T>C p.Cys275Arg p.C275R ENST00000269305 NM_001126112.2 275 Tgt/Cgt 0 -ZNF236 UCSF GRCh37 18 74625704 74625704 + missense_variant,splice_region_variant Missense_Mutation SNP T T A NOVEL P29_Pri Untested WXS Illumina HiSeq 189 108 325 0 ENST00000253159.8:c.2905T>A p.Cys969Ser p.C969S ENST00000253159 NM_007345.3 969 Tgt/Agt 0 -ZNF394 UCSF GRCh37 7 99097486 99097486 + synonymous_variant Silent SNP T T C NOVEL P29_Pri Untested WXS Illumina HiSeq 75 58 138 0 ENST00000337673.6:c.231A>G p.Gly77= p.G77= ENST00000337673 NM_032164.2 77 ggA/ggG 0 -ADNP UCSF GRCh37 20 49508204 49508204 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P29_Rec Untested WXS Illumina HiSeq 6 0 ENST00000349014.3:c.3047delA p.Lys1016ArgfsTer11 p.K1016Rfs*11 ENST00000349014 NM_001282532.1 1016 aAg/ag 0 -AHNAK2 UCSF GRCh37 14 105413143 105413143 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.044 P29_Rec Untested WXS Illumina HiSeq 11 3 14 0 ENST00000333244.5:c.8645C>T p.Pro2882Leu p.P2882L ENST00000333244 NM_138420.2 2882 cCa/cTa 0 -AHNAK2 UCSF GRCh37 14 105413142 105413142 + synonymous_variant Silent SNP T T C NOVEL P29_Rec Untested WXS Illumina HiSeq 11 3 13 0 ENST00000333244.5:c.8646A>G p.Pro2882= p.P2882= ENST00000333244 NM_138420.2 2882 ccA/ccG 0 -APBA1 UCSF GRCh37 9 72067044 72067045 + frameshift_variant Frame_Shift_Del DEL AC AC - NOVEL P29_Rec Untested WXS Illumina HiSeq 15 0 ENST00000265381.4:c.1961_1962del p.Cys654Ter p.C654* ENST00000265381 NM_001163.3 654 tGT/t 0 -ATRX UCSF GRCh37 X 76813051 76813084 + frameshift_variant Frame_Shift_Del DEL AACAACTCGAAAAGACAGTGACTGCTTAGTTACT AACAACTCGAAAAGACAGTGACTGCTTAGTTACT - NOVEL P29_Rec Untested WXS Illumina HiSeq 28 0 ENST00000373344.5:c.6537_6570del p.Val2180IlefsTer11 p.V2180Ifs*11 ENST00000373344 NM_000489.3 2179 caAGTAACTAAGCAGTCACTGTCTTTTCGAGTTGTT/ca 0 -C16orf73 UCSF GRCh37 16 1884364 1884364 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 200 40 131 0 ENST00000397344.3:c.1222G>A p.Val408Ile p.V408I ENST00000397344 NM_152764.2 408 Gtt/Att 0 -C20orf107 UCSF GRCh37 20 55108415 55108415 + synonymous_variant Silent SNP G G T NOVEL P29_Rec Untested WXS Illumina HiSeq 251 51 238 0 ENST00000371325.1:c.18G>T p.Ser6= p.S6= ENST00000371325 NM_001013646.3 6 tcG/tcT 0 -C6orf165 UCSF GRCh37 6 88144700 88144700 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P29_Rec Untested WXS Illumina HiSeq 6 0 ENST00000369562.4:c.1430delA p.Asn477IlefsTer4 p.N477Ifs*4 ENST00000369562 NM_001031743.2 475 Aaa/aa 0 -C6orf89 UCSF GRCh37 6 36867371 36867371 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P29_Rec Untested WXS Illumina HiSeq 6 0 ENST00000373685.1:c.158delC p.Pro53ArgfsTer7 p.P53Rfs*7 ENST00000373685 51 Ccc/cc 0 -CDC25B UCSF GRCh37 20 3785568 3785568 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 271 214 248 0 ENST00000245960.5:c.1703G>A p.Arg568Gln p.R568Q ENST00000245960 NM_021873.2 568 cGg/cAg 0 -COL4A4 UCSF GRCh37 2 227966580 227966580 + splice_donor_variant Splice_Site SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 121 54 138 0 ENST00000396625.3:c.975+1G>A p.X325_splice ENST00000396625 NM_000092.4 0 -DNAH5 UCSF GRCh37 5 13830849 13830849 + missense_variant Missense_Mutation SNP C C A NOVEL P29_Rec Untested WXS Illumina HiSeq 230 94 228 0 ENST00000265104.4:c.5918G>T p.Ser1973Ile p.S1973I ENST00000265104 NM_001369.2 1973 aGc/aTc 0 -DMT-ND1 UCSF GRCh37 5 140052430 140052430 + missense_variant Missense_Mutation SNP G G T 1000g2010nov_all_0.231,snp132_rs112925426 P29_Rec Untested WXS Illumina HiSeq 47 6 29 0 ENST00000542735.1:c.204C>A p.Asp68Glu p.D68E ENST00000542735 NM_194249.2 68 gaC/gaA 0 -DMT-ND1 UCSF GRCh37 5 140052424 140052424 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.301,snp132_rs72800921 P29_Rec Untested WXS Illumina HiSeq 42 6 27 1 ENST00000542735.1:c.210C>T p.Tyr70= p.Y70= ENST00000542735 NM_194249.2 70 taC/taT 0 -EFTUD2 UCSF GRCh37 17 42937310 42937310 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 38 24 46 0 ENST00000426333.2:c.1823G>A p.Arg608His p.R608H ENST00000426333 NM_001142605.1 608 cGc/cAc 0 -EPHA8 UCSF GRCh37 1 22903034 22903034 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 262 130 301 0 ENST00000166244.3:c.484C>T p.Arg162Trp p.R162W ENST00000166244 NM_020526.3 162 Cgg/Tgg 0 -FAM83H UCSF GRCh37 8 144808239 144808239 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 197 154 319 0 ENST00000388913.3:c.3392G>A p.Arg1131His p.R1131H ENST00000388913 NM_198488.3 1131 cGc/cAc 0 -GAS2 UCSF GRCh37 11 22707300 22707300 + missense_variant Missense_Mutation SNP T T C NOVEL P29_Rec Untested WXS Illumina HiSeq 97 30 75 0 ENST00000278187.3:c.232T>C p.Phe78Leu p.F78L ENST00000278187 NM_177553.2 78 Ttc/Ctc 0 -HERC2 UCSF GRCh37 15 28419659 28419659 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.004,1000g2011may_all_0.0126,snp132_rs117437554 P29_Rec Untested WXS Illumina HiSeq 23 5 18 0 ENST00000261609.7:c.9939C>T p.Arg3313= p.R3313= ENST00000261609 NM_004667.5 3313 cgC/cgT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 27 10 20 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL1RL2 UCSF GRCh37 2 102851729 102851729 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 101 46 137 0 ENST00000264257.2:c.1670G>A p.Arg557His p.R557H ENST00000264257 NM_003854.2 557 cGc/cAc 0 -INTS1 UCSF GRCh37 7 1539622 1539622 + synonymous_variant Silent SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 131 68 151 0 ENST00000404767.3:c.582C>T p.Ile194= p.I194= ENST00000404767 NM_001080453.2 194 atC/atT 0 -KIAA1267 UCSF GRCh37 17 44249468 44249469 + protein_altering_variant In_Frame_Ins INS - - TGA NOVEL P29_Rec Untested WXS Illumina HiSeq 19 0 ENST00000574590.1:c.41_42insTCA p.Glu14delinsAspGln p.E14delinsDQ ENST00000574590 NM_001193465.1 14 gaa/gaTCAa 0 -KRT15 UCSF GRCh37 17 39673204 39673204 + missense_variant Missense_Mutation SNP C C A NOVEL P29_Rec Untested WXS Illumina HiSeq 57 19 67 0 ENST00000254043.3:c.594G>T p.Glu198Asp p.E198D ENST00000254043 NM_002275.3 198 gaG/gaT 0 -KRTAP5-1 UCSF GRCh37 11 1605979 1605979 + synonymous_variant Silent SNP A A G snp132_rs59646474 P29_Rec Untested WXS Illumina HiSeq 12 3 12 0 ENST00000382171.2:c.501T>C p.Cys167= p.C167= ENST00000382171 NM_001005922.1 167 tgT/tgC 0 -MEIS2 UCSF GRCh37 15 37376018 37376018 + synonymous_variant Silent SNP G G C NOVEL P29_Rec Untested WXS Illumina HiSeq 129 70 130 0 ENST00000561208.1:c.708C>G p.Ser236= p.S236= ENST00000561208 236 tcC/tcG 0 -MRVI1 UCSF GRCh37 11 10625991 10625991 + missense_variant Missense_Mutation SNP G G C NOVEL P29_Rec Untested WXS Illumina HiSeq 50 14 39 0 ENST00000423302.2:c.1704C>G p.Asn568Lys p.N568K ENST00000423302 NM_130385.3 568 aaC/aaG 0 -OBSCN UCSF GRCh37 1 228467634 228467634 + missense_variant Missense_Mutation SNP G G C NOVEL P29_Rec Untested WXS Illumina HiSeq 353 65 324 0 ENST00000422127.1:c.7509G>C p.Lys2503Asn p.K2503N ENST00000422127 NM_001098623.2 2503 aaG/aaC 0 -OR7C1 UCSF GRCh37 19 14910208 14910208 + synonymous_variant Silent SNP C C A NOVEL P29_Rec Untested WXS Illumina HiSeq 144 68 173 0 ENST00000248073.2:c.741G>T p.Val247= p.V247= ENST00000248073 NM_198944.1 247 gtG/gtT 0 -PIK3CG UCSF GRCh37 7 106509501 106509501 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 443 130 383 0 ENST00000359195.3:c.1495G>A p.Ala499Thr p.A499T ENST00000359195 NM_002649.2 499 Gct/Act 0 -POLR1A UCSF GRCh37 2 86260786 86260786 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 23 12 22 0 ENST00000263857.6:c.4159C>T p.Arg1387Trp p.R1387W ENST00000263857 1387 Cgg/Tgg 0 -POM121 UCSF GRCh37 7 72413581 72413581 + missense_variant Missense_Mutation SNP G G A snp132_rs71554687 P29_Rec Untested WXS Illumina HiSeq 24 5 10 0 ENST00000434423.2:c.3049G>A p.Val1017Ile p.V1017I ENST00000434423 1017 Gtc/Atc 0 -POM121 UCSF GRCh37 7 72413593 72413593 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.170,snp132_rs71554688 P29_Rec Untested WXS Illumina HiSeq 24 5 11 0 ENST00000434423.2:c.3061T>C p.Tyr1021His p.Y1021H ENST00000434423 1021 Tac/Cac 0 -PSMD13 UCSF GRCh37 11 251848 251848 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 118 52 122 0 ENST00000532097.1:c.947C>T p.Ser316Leu p.S316L ENST00000532097 NM_002817.3 316 tCg/tTg 0 -PTGIR UCSF GRCh37 19 47127054 47127054 + missense_variant Missense_Mutation SNP G G C NOVEL P29_Rec Untested WXS Illumina HiSeq 36 14 53 0 ENST00000291294.2:c.429C>G p.Ile143Met p.I143M ENST00000291294 NM_000960.3 143 atC/atG 0 -RBBP7 UCSF GRCh37 X 16870935 16870935 + missense_variant Missense_Mutation SNP T T G NOVEL P29_Rec Untested WXS Illumina HiSeq 24 10 36 0 ENST00000380087.2:c.822A>C p.Glu274Asp p.E274D ENST00000380087 274 gaA/gaC 0 -RNF167 UCSF GRCh37 17 4846190 4846190 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 122 163 216 0 ENST00000262482.6:c.424G>A p.Glu142Lys p.E142K ENST00000262482 NM_015528.1 142 Gag/Aag 0 -SGOL1 UCSF GRCh37 3 20216031 20216031 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 596 121 449 0 ENST00000263753.4:c.992C>T p.Ser331Phe p.S331F ENST00000263753 NM_001012410.3 331 tCc/tTc 0 -SMARCAD1 UCSF GRCh37 4 95197556 95197556 + synonymous_variant Silent SNP A A G NOVEL P29_Rec Untested WXS Illumina HiSeq 267 42 253 0 ENST00000354268.4:c.1875A>G p.Ala625= p.A625= ENST00000354268 625 gcA/gcG 0 -TBC1D3G UCSF GRCh37 17 34797608 34797608 + missense_variant Missense_Mutation SNP T T C NOVEL P29_Rec Untested WXS Illumina HiSeq 12 4 22 1 ENST00000341264.6:c.1528A>G p.Ser510Gly p.S510G ENST00000341264 NM_001040282.2 510 Agc/Ggc 0 -TCHH UCSF GRCh37 1 152086556 152086557 + upstream_gene_variant 5'Flank INS - - TT NOVEL P29_Rec Untested WXS Illumina HiSeq 18 0 ENST00000368804 NM_007113.3 0 -TEX11 UCSF GRCh37 X 69849501 69849501 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 78 80 149 0 ENST00000344304.3:c.1613C>T p.Pro538Leu p.P538L ENST00000344304 538 cCt/cTt 0 -THEG UCSF GRCh37 19 367122 367122 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 84 27 91 0 ENST00000342640.4:c.856C>T p.Pro286Ser p.P286S ENST00000342640 NM_016585.4 286 Ccc/Tcc 0 -TMTC4 UCSF GRCh37 13 101320994 101320994 + start_lost Translation_Start_Site SNP T T C NOVEL P29_Rec Untested WXS Illumina HiSeq 31 23 37 0 ENST00000376234.3:c.1A>G p.Met1? p.M1? ENST00000376234 NM_001079669.1 1 Atg/Gtg 0 -TP53 UCSF GRCh37 17 7577115 7577115 + missense_variant Missense_Mutation SNP A A G NOVEL P29_Rec Untested WXS Illumina HiSeq 91 105 153 0 ENST00000269305.4:c.823T>C p.Cys275Arg p.C275R ENST00000269305 NM_001126112.2 275 Tgt/Cgt 0 -XPC UCSF GRCh37 3 14219966 14219968 + inframe_deletion,splice_region_variant In_Frame_Del DEL CCT CCT - 1000g2010nov_all P29_Rec Untested WXS Illumina HiSeq 6 0 ENST00000285021.7:c.101_103delAGG p.Glu34del p.E34del ENST00000285021 NM_004628.4 34 gAGGat/gat 0 -ZNF394 UCSF GRCh37 7 99097486 99097486 + synonymous_variant Silent SNP T T C NOVEL P29_Rec Untested WXS Illumina HiSeq 204 82 138 0 ENST00000337673.6:c.231A>G p.Gly77= p.G77= ENST00000337673 NM_032164.2 77 ggA/ggG 0 diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutations_mskcc.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutations_mskcc.txt deleted file mode 100644 index 5bcc42df237..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_mutations_mskcc.txt +++ /dev/null @@ -1,15156 +0,0 @@ -Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Consequence Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer t_ref_count t_alt_count n_ref_count n_alt_count HGVSc HGVSp HGVSp_Short Transcript_ID RefSeq Protein_position Codons Hotspot -ANK2 UCSF GRCh37 4 114257011 114257011 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Pri Untested WXS Illumina HiSeq 27 5 40 1 ENST00000357077.4:c.3389G>A p.Ser1130Asn p.S1130N ENST00000357077 NM_001148.4 1130 aGc/aAc 0 -ATRX UCSF GRCh37 X 76938230 76938231 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P01_Pri Untested WXS Illumina HiSeq 45 0 ENST00000373344.5:c.2518dup p.Arg840LysfsTer9 p.R840Kfs*9 ENST00000373344 NM_000489.3 839 -/A 0 -BCLAF1 UCSF GRCh37 6 136599392 136599392 + synonymous_variant Silent SNP G G A NOVEL P01_Pri Untested WXS Illumina HiSeq 151 31 206 0 ENST00000531224.1:c.627C>T p.Ser209= p.S209= ENST00000531224 NM_001077441.1 209 tcC/tcT 0 -BDP1 UCSF GRCh37 5 70811923 70811923 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 32 13 45 0 ENST00000358731.4:c.4685A>G p.Lys1562Arg p.K1562R ENST00000358731 NM_018429.2 1562 aAg/aGg 0 -BRIX1 UCSF GRCh37 5 34925341 34925341 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Pri Untested WXS Illumina HiSeq 20 6 31 0 ENST00000336767.5:c.803T>C p.Val268Ala p.V268A ENST00000336767 NM_018321.3 268 gTc/gCc 0 -CDHR5 UCSF GRCh37 11 618860 618860 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.029 P01_Pri Untested WXS Illumina HiSeq 21 3 24 1 ENST00000358353.3:c.1699A>G p.Ser567Gly p.S567G ENST00000358353 567 Agt/Ggt 0 -CES1 UCSF GRCh37 16 55862883 55862883 + missense_variant Missense_Mutation SNP C C A 1000g2010nov_all_0.320,snp132_rs34380375 P01_Pri Untested WXS Illumina HiSeq 14 6 25 1 ENST00000360526.3:c.56G>T p.Gly19Val p.G19V ENST00000360526 NM_001266.4 19 gGg/gTg 0 -CHRM2 UCSF GRCh37 7 136701008 136701008 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 41 5 64 0 ENST00000445907.2:c.1396A>G p.Arg466Gly p.R466G ENST00000445907 NM_001006627.1 466 Agg/Ggg 0 -CNOT4 UCSF GRCh37 7 135122975 135122975 + stop_gained Nonsense_Mutation SNP G G T NOVEL P01_Pri Untested WXS Illumina HiSeq 40 6 48 1 ENST00000541284.1:c.105C>A p.Tyr35Ter p.Y35* ENST00000541284 NM_001190849.1 35 taC/taA 0 -DDR1 UCSF GRCh37 6 30864491 30864491 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 31 24 25 0 ENST00000376575.3:c.1718A>G p.Asp573Gly p.D573G ENST00000376575 573 gAc/gGc 0 -DLC1 UCSF GRCh37 8 12950182 12950182 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 21 6 37 0 ENST00000276297.4:c.3679G>A p.Val1227Met p.V1227M ENST00000276297 NM_182643.2 1227 Gtg/Atg 0 -ERBB2IP UCSF GRCh37 5 65371004 65371004 + synonymous_variant Silent SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 54 21 89 0 ENST00000506030.1:c.3930A>G p.Pro1310= p.P1310= ENST00000506030 1310 ccA/ccG 0 -FBXO18 UCSF GRCh37 10 5965617 5965617 + missense_variant Missense_Mutation SNP G G C NOVEL P01_Pri Untested WXS Illumina HiSeq 37 19 61 0 ENST00000379999.5:c.2509G>C p.Asp837His p.D837H ENST00000379999 NM_032807.4 837 Gat/Cat 0 -FYB UCSF GRCh37 5 39122471 39122471 + missense_variant Missense_Mutation SNP G G T NOVEL P01_Pri Untested WXS Illumina HiSeq 31 5 52 1 ENST00000540520.1:c.2135C>A p.Thr712Asn p.T712N ENST00000540520 NM_001243093.1 712 aCc/aAc 0 -HGSNAT UCSF GRCh37 8 43046714 43046714 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Pri Untested WXS Illumina HiSeq 33 12 56 0 ENST00000379644.4:c.1226T>C p.Leu409Pro p.L409P ENST00000379644 NM_152419.2 409 cTc/cCc 0 -HLA-C UCSF GRCh37 6 31238897 31238897 + missense_variant Missense_Mutation SNP C C G NOVEL P01_Pri Untested WXS Illumina HiSeq 39 6 25 1 ENST00000376228.5:c.572G>C p.Trp191Ser p.W191S ENST00000376228 NM_002117.5 191 tGg/tCg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 40 21 74 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KIF3C UCSF GRCh37 2 26204031 26204031 + synonymous_variant Silent SNP C C T NOVEL P01_Pri Untested WXS Illumina HiSeq 12 3 15 0 ENST00000264712.3:c.756G>A p.Arg252= p.R252= ENST00000264712 NM_002254.6 252 agG/agA 0 -KIR2DS4 UCSF GRCh37 19 55350964 55350965 + stop_gained,frameshift_variant Nonsense_Mutation INS - - CCCGGAGCTCCTATGACATGTA snp132_rs35757649 P01_Pri Untested WXS Illumina HiSeq 6 0 ENST00000339924.8:c.453_454insCCGGAGCTCCTATGACATGTAC p.Ile152ProfsTer5 p.I152Pfs*5 ENST00000339924 NM_001281971.1 151 tcc/tcCCCGGAGCTCCTATGACATGTAc 0 -LOXL4 UCSF GRCh37 10 100013411 100013411 + stop_gained Nonsense_Mutation SNP G G T NOVEL P01_Pri Untested WXS Illumina HiSeq 13 7 28 1 ENST00000260702.3:c.1734C>A p.Tyr578Ter p.Y578* ENST00000260702 NM_032211.6 578 taC/taA 0 -LTK UCSF GRCh37 15 41796420 41796420 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 12 4 22 0 ENST00000263800.6:c.2369T>C p.Leu790Pro p.L790P ENST00000263800 NM_002344.5 790 cTc/cCc 0 -MGAT4A UCSF GRCh37 2 99342774 99342774 + missense_variant Missense_Mutation SNP C C A snp132_rs79141144 P01_Pri Untested WXS Illumina HiSeq 28 4 35 1 ENST00000264968.3:c.22G>T p.Val8Leu p.V8L ENST00000264968 8 Gta/Tta 0 -MYH9 UCSF GRCh37 22 36717828 36717828 + stop_gained Nonsense_Mutation SNP G G T NOVEL P01_Pri Untested WXS Illumina HiSeq 29 5 36 0 ENST00000216181.5:c.744C>A p.Tyr248Ter p.Y248* ENST00000216181 NM_002473.4 248 taC/taA 0 -MYOCD UCSF GRCh37 17 12666467 12666467 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 45 23 77 0 ENST00000425538.1:c.2467A>G p.Thr823Ala p.T823A ENST00000425538 NM_001146312.1 823 Act/Gct 0 -MYOCD UCSF GRCh37 17 12620673 12620673 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Pri Untested WXS Illumina HiSeq 17 4 58 0 ENST00000425538.1:c.188C>T p.Ser63Phe p.S63F ENST00000425538 NM_001146312.1 63 tCc/tTc 0 -NUDT10 UCSF GRCh37 X 51076024 51076024 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.00397,1000g2011may_all_0.0126,snp132_rs2801626 P01_Pri Untested WXS Illumina HiSeq 13 3 10 0 ENST00000376006.3:c.207G>A p.Glu69= p.E69= ENST00000376006 NM_153183.2 69 gaG/gaA 0 -OR7C2 UCSF GRCh37 19 15052698 15052698 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 70 38 127 0 ENST00000248072.3:c.398C>T p.Thr133Met p.T133M ENST00000248072 NM_012377.1 133 aCg/aTg 0 -OVOL2 UCSF GRCh37 20 18005411 18005411 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Pri Untested WXS Illumina HiSeq 23 7 38 0 ENST00000278780.6:c.697G>A p.Val233Met p.V233M ENST00000278780 NM_021220.2 233 Gtg/Atg 0 -PRB1 UCSF GRCh37 12 11506582 11506582 + intron_variant Intron SNP C C T NOVEL P01_Pri Untested WXS Illumina HiSeq 41 6 35 1 ENST00000500254.2:c.313+142G>A *105* ENST00000500254 NM_199353.2 0 -PRKAB1 UCSF GRCh37 12 120114413 120114413 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Pri Untested WXS Illumina HiSeq 31 17 51 0 ENST00000229328.5:c.604G>A p.Ala202Thr p.A202T ENST00000229328 NM_006253.4 202 Gca/Aca 0 -PSG7 UCSF GRCh37 19 43430146 43430146 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 113 14 150 0 ENST00000406070.2:c.1022T>C p.Phe341Ser p.F341S ENST00000406070 NM_002783.2 341 tTc/tCc 0 -PSMD13 UCSF GRCh37 11 248855 248855 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Pri Untested WXS Illumina HiSeq 24 12 45 0 ENST00000431206.2:c.654C>T p.Leu218= p.L218= ENST00000431206 NM_175932.2 218 ctC/ctT 0 -RALGAPB UCSF GRCh37 20 37150153 37150153 + synonymous_variant Silent SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 74 36 102 0 ENST00000262879.6:c.1431A>G p.Gln477= p.Q477= ENST00000262879 477 caA/caG 0 -SERPINE1 UCSF GRCh37 7 100773852 100773852 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Pri Untested WXS Illumina HiSeq 85 32 105 0 ENST00000223095.4:c.422G>A p.Arg141Gln p.R141Q ENST00000223095 NM_000602.4 141 cGg/cAg 0 -SMPD4 UCSF GRCh37 2 130912789 130912789 + missense_variant Missense_Mutation SNP A A C NOVEL P01_Pri Untested WXS Illumina HiSeq 14 4 14 0 ENST00000409031.1:c.1450T>G p.Phe484Val p.F484V ENST00000409031 NM_017951.4 484 Ttt/Gtt 0 -SMPD4 UCSF GRCh37 2 130912778 130912778 + synonymous_variant Silent SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 15 4 15 0 ENST00000409031.1:c.1461T>C p.Phe487= p.F487= ENST00000409031 NM_017951.4 487 ttT/ttC 0 -SRRM2 UCSF GRCh37 16 2807494 2807494 + synonymous_variant Silent SNP G G A NOVEL P01_Pri Untested WXS Illumina HiSeq 40 13 59 0 ENST00000301740.8:c.264G>A p.Gln88= p.Q88= ENST00000301740 NM_016333.3 88 caG/caA 0 -TEX11 UCSF GRCh37 X 69749812 69749812 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri Untested WXS Illumina HiSeq 14 16 41 0 ENST00000395889.2:c.2603T>C p.Val868Ala p.V868A ENST00000395889 NM_001003811.1 868 gTc/gCc 0 -TMPRSS15 UCSF GRCh37 21 19666630 19666630 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 34 8 44 0 ENST00000284885.3:c.2443G>A p.Val815Ile p.V815I ENST00000284885 NM_002772.2 815 Gtc/Atc 0 -TP53 UCSF GRCh37 17 7578527 7578527 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 14 4 15 0 ENST00000269305.4:c.403T>C p.Cys135Arg p.C135R ENST00000269305 NM_001126112.2 135 Tgc/Cgc 0 -TP53 UCSF GRCh37 17 7579310 7579310 + splice_donor_variant Splice_Site SNP A A C NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 24 9 55 0 ENST00000269305.4:c.375+2T>G p.X125_splice ENST00000269305 NM_001126112.2 0 -TPR UCSF GRCh37 1 186301466 186301466 + missense_variant Missense_Mutation SNP G G T NOVEL P01_Pri Untested WXS Illumina HiSeq 32 8 58 0 ENST00000367478.4:c.5465C>A p.Thr1822Asn p.T1822N ENST00000367478 NM_003292.2 1822 aCc/aAc 0 -TRIM33 UCSF GRCh37 1 114967346 114967346 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 28 15 59 0 ENST00000358465.2:c.1727A>G p.Gln576Arg p.Q576R ENST00000358465 NM_015906.3 576 cAa/cGa 0 -TYW1B UCSF GRCh37 7 72093896 72093896 + missense_variant Missense_Mutation SNP C C T snp132_rs7776775 P01_Pri Untested WXS Illumina HiSeq 35 4 38 1 ENST00000435769.2:c.1594G>A p.Glu532Lys p.E532K ENST00000435769 NM_001145440.1 532 Gaa/Aaa 0 -VCAN UCSF GRCh37 5 82815180 82815180 + missense_variant Missense_Mutation SNP C C A NOVEL P01_Pri Untested WXS Illumina HiSeq 43 7 57 1 ENST00000265077.3:c.1055C>A p.Thr352Lys p.T352K ENST00000265077 NM_004385.4 352 aCa/aAa 0 -WBSCR17 UCSF GRCh37 7 71175875 71175875 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Pri Untested WXS Illumina HiSeq 10 5 19 0 ENST00000333538.5:c.1630G>A p.Val544Ile p.V544I ENST00000333538 NM_022479.2 544 Gtc/Atc 0 -ZNF598 UCSF GRCh37 16 2048796 2048796 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.086,1000g2011may_all_0.1651,snp132_rs1058474 P01_Pri Untested WXS Illumina HiSeq 8 7 8 0 ENST00000431526.1:c.2268G>A p.Arg756= p.R756= ENST00000431526 756 agG/agA 0 -ZNF616 UCSF GRCh37 19 52620039 52620039 + missense_variant Missense_Mutation SNP A A C NOVEL P01_Pri somatic WXS Sanger Illumina HiSeq 105 19 150 0 ENST00000600228.1:c.378T>G p.His126Gln p.H126Q ENST00000600228 NM_178523.3 126 caT/caG 0 -AADAT UCSF GRCh37 4 170989794 170989794 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 24 91 0 ENST00000337664.4:c.848G>A p.Arg283Lys p.R283K ENST00000337664 NM_016228.3 283 aGa/aAa 0 -AAK1 UCSF GRCh37 2 69746264 69746264 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 4 13 0 ENST00000409085.4:c.1319C>T p.Pro440Leu p.P440L ENST00000409085 NM_014911.3 440 cCc/cTc 0 -ABCA2 UCSF GRCh37 9 139914833 139914833 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 7 11 0 ENST00000341511.6:c.1380C>T p.Ile460= p.I460= ENST00000341511 NM_212533.2 460 atC/atT 0 -ABCA4 UCSF GRCh37 1 94548977 94548977 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 154 34 179 0 ENST00000370225.3:c.789C>T p.Ser263= p.S263= ENST00000370225 NM_000350.2 263 agC/agT 0 -ABCA8 UCSF GRCh37 17 66914202 66914202 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 22 43 0 ENST00000269080.2:c.1913C>T p.Ala638Val p.A638V ENST00000269080 NM_007168.2 638 gCc/gTc 0 -ABCC10 UCSF GRCh37 6 43415071 43415071 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 7 23 0 ENST00000372530.4:c.3630C>T p.Ala1210= p.A1210= ENST00000372530 NM_001198934.1 1210 gcC/gcT 0 -ABCC3 UCSF GRCh37 17 48733333 48733333 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 8 16 0 ENST00000285238.8:c.186C>T p.Gly62= p.G62= ENST00000285238 NM_003786.3 62 ggC/ggT 0 -ABCC6 UCSF GRCh37 16 16281014 16281014 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 5 17 0 ENST00000205557.7:c.1834C>T p.Pro612Ser p.P612S ENST00000205557 NM_001171.5 612 Cct/Tct 0 -ABCC6 UCSF GRCh37 16 16259656 16259656 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 7 50 0 ENST00000205557.7:c.3130C>T p.Leu1044= p.L1044= ENST00000205557 NM_001171.5 1044 Ctg/Ttg 0 -ABCF1 UCSF GRCh37 6 30552213 30552213 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 53 6 21 0 ENST00000326195.8:c.1261G>A p.Ala421Thr p.A421T ENST00000326195 NM_001025091.1 421 Gcc/Acc 0 -ABCG4 UCSF GRCh37 11 119025283 119025283 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 4 22 0 ENST00000307417.3:c.538C>T p.Leu180= p.L180= ENST00000307417 NM_022169.4 180 Ctg/Ttg 0 -ABHD1 UCSF GRCh37 2 27353277 27353277 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0014 P01_Rec Untested WXS Illumina HiSeq 61 59 95 0 ENST00000316470.4:c.999C>T p.Pro333= p.P333= ENST00000316470 NM_032604.3 333 ccC/ccT 0 -ABHD14A UCSF GRCh37 3 52011925 52011925 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0106,snp132_rs34991570 P01_Rec Untested WXS Illumina HiSeq 7 33 74 0 ENST00000273596.3:c.108C>T p.Ala36= p.A36= ENST00000273596 NM_015407.4 36 gcC/gcT 0 -ABI3BP UCSF GRCh37 3 100523699 100523699 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 31 54 0 ENST00000284322.5:c.1684C>T p.Pro562Ser p.P562S ENST00000284322 NM_015429.3 562 Ccc/Tcc 0 -ABRA UCSF GRCh37 8 107781939 107781939 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 75 9 46 0 ENST00000311955.3:c.480G>A p.Arg160= p.R160= ENST00000311955 NM_139166.4 160 agG/agA 0 -ACACB UCSF GRCh37 12 109671612 109671612 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 4 28 51 0 ENST00000338432.7:c.4199G>A p.Ser1400Asn p.S1400N ENST00000338432 1400 aGc/aAc 0 -ACADSB UCSF GRCh37 10 124804002 124804002 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 5 48 0 ENST00000358776.4:c.900+1G>A p.X300_splice ENST00000358776 NM_001609.3 0 -ACCN1 UCSF GRCh37 17 32483105 32483105 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 29 38 0 ENST00000359872.6:c.447G>A p.Lys149= p.K149= ENST00000359872 NM_001094.4 149 aaG/aaA 0 -ACCN2 UCSF GRCh37 12 50473742 50473742 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 64 18 40 0 ENST00000228468.4:c.1109C>T p.Thr370Ile p.T370I ENST00000228468 NM_020039.3 370 aCc/aTc 0 -ACCN2 UCSF GRCh37 12 50473707 50473707 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 9 56 0 ENST00000228468.4:c.1074G>A p.Gln358= p.Q358= ENST00000228468 NM_020039.3 358 caG/caA 0 -ACHE UCSF GRCh37 7 100490086 100490086 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 11 22 0 ENST00000302913.4:c.1422G>A p.Met474Ile p.M474I ENST00000302913 NM_015831.2 474 atG/atA 0 -ACHE UCSF GRCh37 7 100491439 100491439 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 9 30 0 ENST00000302913.4:c.415C>T p.Pro139Ser p.P139S ENST00000302913 NM_015831.2 139 Cct/Tct 0 -ACIN1 UCSF GRCh37 14 23564285 23564285 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 6 17 0 ENST00000262710.1:c.211C>T p.Pro71Ser p.P71S ENST00000262710 NM_001164814.1 71 Cct/Tct 0 -ACOT7 UCSF GRCh37 1 6399581 6399581 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 3 11 0 ENST00000377855.2:c.360G>A p.Glu120= p.E120= ENST00000377855 NM_181864.2 120 gaG/gaA 0 -ACOT7 UCSF GRCh37 1 6399629 6399629 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 5 14 0 ENST00000377855.2:c.312G>A p.Leu104= p.L104= ENST00000377855 NM_181864.2 104 ctG/ctA 0 -ADGRF2P UCSF GRCh37 3 58514680 58514680 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 6 47 0 ENST00000302819.5:c.996C>T p.Asp332= p.D332= ENST00000302819 NM_003500.3 332 gaC/gaT 0 -ACSF2 UCSF GRCh37 17 48551629 48551629 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 24 44 0 ENST00000300441.4:c.1797+1G>A p.X599_splice ENST00000300441 NM_025149.4 0 -ACSM2A UCSF GRCh37 16 20482518 20482518 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 13 75 0 ENST00000573854.1:c.720C>T p.Leu240= p.L240= ENST00000573854 NM_001010845.2 240 ctC/ctT 0 -ACSS1 UCSF GRCh37 20 24988489 24988489 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 39 6 20 0 ENST00000323482.4:c.1979G>A p.Gly660Glu p.G660E ENST00000323482 NM_001252675.1 660 gGa/gAa 0 -ACTL9 UCSF GRCh37 19 8808284 8808284 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 8 9 0 ENST00000324436.3:c.768C>T p.His256= p.H256= ENST00000324436 NM_178525.3 256 caC/caT 0 -ACTR2 UCSF GRCh37 2 65478212 65478212 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 21 101 0 ENST00000377982.4:c.442G>A p.Val148Ile p.V148I ENST00000377982 NM_001005386.2 148 Gtt/Att 0 -ACY3 UCSF GRCh37 11 67410218 67410218 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 23 18 28 0 ENST00000255082.3:c.937C>T p.Pro313Ser p.P313S ENST00000255082 NM_080658.1 313 Cct/Tct 0 -ADAM10 UCSF GRCh37 15 58889799 58889799 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 35 61 0 ENST00000260408.3:c.2194C>T p.Pro732Ser p.P732S ENST00000260408 NM_001110.2 732 Ccc/Tcc 0 -ADAM11 UCSF GRCh37 17 42850761 42850761 + synonymous_variant Silent SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 16 11 14 0 ENST00000200557.6:c.958C>T p.Leu320= p.L320= ENST00000200557 NM_002390.4 320 Ctg/Ttg 0 -ADAM11 UCSF GRCh37 17 42854295 42854295 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 26 32 0 ENST00000200557.6:c.1646C>T p.Thr549Ile p.T549I ENST00000200557 NM_002390.4 549 aCc/aTc 0 -ADAM12 UCSF GRCh37 10 127824179 127824179 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 7 25 0 ENST00000368679.4:c.399C>T p.Val133= p.V133= ENST00000368679 NM_003474.4 133 gtC/gtT 0 -ADAMTS15 UCSF GRCh37 11 130331452 130331452 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 17 26 0 ENST00000299164.2:c.1026G>A p.Lys342= p.K342= ENST00000299164 NM_139055.2 342 aaG/aaA 0 -ADAMTS16 UCSF GRCh37 5 5306737 5306737 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 14 50 0 ENST00000274181.7:c.3307C>T p.Leu1103= p.L1103= ENST00000274181 NM_139056.2 1103 Ctg/Ttg 0 -ADAMTSL4 UCSF GRCh37 1 150528791 150528791 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 5 19 0 ENST00000271643.4:c.1525G>A p.Gly509Arg p.G509R ENST00000271643 NM_019032.4 509 Gga/Aga 0 -ADCY8 UCSF GRCh37 8 131848647 131848647 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 9 42 0 ENST00000286355.5:c.2551C>T p.Leu851Phe p.L851F ENST00000286355 NM_001115.2 851 Ctc/Ttc 0 -ADI1 UCSF GRCh37 2 3504731 3504731 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 11 25 0 ENST00000327435.6:c.274G>A p.Asp92Asn p.D92N ENST00000327435 NM_018269.3 92 Gac/Aac 0 -ADNP2 UCSF GRCh37 18 77896524 77896524 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 28 107 0 ENST00000262198.4:c.3228G>A p.Leu1076= p.L1076= ENST00000262198 NM_014913.3 1076 ttG/ttA 0 -ADORA3 UCSF GRCh37 1 112028394 112028394 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 29 84 0 ENST00000369716.4:c.941C>T p.Thr314Ile p.T314I ENST00000369716 NM_020683.6 314 aCc/aTc 0 -AEBP1 UCSF GRCh37 7 44151787 44151787 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 10 29 0 ENST00000223357.3:c.2084G>A p.Gly695Asp p.G695D ENST00000223357 NM_001129.4 695 gGc/gAc 0 -AFAP1 UCSF GRCh37 4 7770645 7770645 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 20 42 0 ENST00000420658.1:c.2344G>A p.Ala782Thr p.A782T ENST00000420658 NM_001134647.1 782 Gcg/Acg 0 -AFAP1 UCSF GRCh37 4 7811454 7811454 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 16 70 0 ENST00000420658.1:c.941G>A p.Gly314Asp p.G314D ENST00000420658 NM_001134647.1 314 gGc/gAc 0 -AFAP1L2 UCSF GRCh37 10 116059077 116059077 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 5 37 0 ENST00000304129.4:c.2055C>T p.His685= p.H685= ENST00000304129 NM_001287824.1 685 caC/caT 0 -AFF3 UCSF GRCh37 2 100627968 100627968 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 79 12 77 0 ENST00000356421.2:c.119G>A p.Arg40Lys p.R40K ENST00000356421 NM_001025108.1 40 aGa/aAa 0 -AGBL1 UCSF GRCh37 15 86697787 86697787 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 8 44 0 ENST00000441037.2:c.251C>T p.Ser84Phe p.S84F ENST00000441037 NM_152336.2 84 tCc/tTc 0 -AGBL2 UCSF GRCh37 11 47684615 47684615 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 110 19 147 1 ENST00000525123.1:c.2498C>T p.Ala833Val p.A833V ENST00000525123 NM_024783.3 833 gCc/gTc 0 -AGER UCSF GRCh37 6 32150123 32150123 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 24 43 0 ENST00000375076.4:c.865C>T p.Pro289Ser p.P289S ENST00000375076 NM_001206929.1 289 Cct/Tct 0 -AGRN UCSF GRCh37 1 979635 979635 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 3 13 0 ENST00000379370.2:c.2146C>T p.Pro716Ser p.P716S ENST00000379370 NM_198576.3 716 Ccg/Tcg 0 -AGT UCSF GRCh37 1 230839975 230839975 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 5 27 0 ENST00000366667.4:c.1233G>A p.Leu411= p.L411= ENST00000366667 NM_000029.3 411 ctG/ctA 0 -AGXT2L1 UCSF GRCh37 4 109681017 109681017 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 9 59 0 ENST00000296486.3:c.223G>A p.Glu75Lys p.E75K ENST00000296486 NM_031279.3 75 Gaa/Aaa 0 -AHNAK UCSF GRCh37 11 62297645 62297645 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 136 70 131 0 ENST00000378024.4:c.4244G>A p.Gly1415Glu p.G1415E ENST00000378024 NM_001620.2 1415 gGa/gAa 0 -AHNAK2 UCSF GRCh37 14 105411656 105411656 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 62 98 0 ENST00000333244.5:c.10132G>A p.Glu3378Lys p.E3378K ENST00000333244 NM_138420.2 3378 Gag/Aag 0 -AHNAK2 UCSF GRCh37 14 105416524 105416524 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 80 102 0 ENST00000333244.5:c.5264C>T p.Ala1755Val p.A1755V ENST00000333244 NM_138420.2 1755 gCc/gTc 0 -AIM1L UCSF GRCh37 1 26673016 26673016 + upstream_gene_variant 5'Flank SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 8 14 0 ENST00000527815 NM_001039775.3 0 -AIPL1 UCSF GRCh37 17 6330210 6330210 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 16 26 0 ENST00000381129.3:c.633G>A p.Leu211= p.L211= ENST00000381129 NM_014336.3 211 ctG/ctA 0 -AK5 UCSF GRCh37 1 78001692 78001692 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 6 48 0 ENST00000354567.2:c.1589C>T p.Ala530Val p.A530V ENST00000354567 NM_174858.2 530 gCc/gTc 0 -AKAP1 UCSF GRCh37 17 55193506 55193506 + synonymous_variant Silent SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 25 19 26 0 ENST00000337714.3:c.2316G>A p.Gly772= p.G772= ENST00000337714 NM_003488.3 772 ggG/ggA 0 -AKAP1 UCSF GRCh37 17 55183547 55183547 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 77 14 38 0 ENST00000337714.3:c.722G>A p.Gly241Glu p.G241E ENST00000337714 NM_003488.3 241 gGg/gAg 0 -AKAP10 UCSF GRCh37 17 19812583 19812583 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 23 59 0 ENST00000225737.6:c.1894G>A p.Glu632Lys p.E632K ENST00000225737 NM_007202.3 632 Gaa/Aaa 0 -AKAP12 UCSF GRCh37 6 151670458 151670458 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 23 64 0 ENST00000402676.2:c.932C>T p.Thr311Ile p.T311I ENST00000402676 NM_005100.3 311 aCc/aTc 0 -AKAP9 UCSF GRCh37 7 91706181 91706181 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 21 61 0 ENST00000356239.3:c.6625G>A p.Glu2209Lys p.E2209K ENST00000356239 NM_147185.2 2209 Gaa/Aaa 0 -AKNAD1 UCSF GRCh37 1 109394475 109394475 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 87 53 120 0 ENST00000370001.3:c.812C>T p.Pro271Leu p.P271L ENST00000370001 NM_152763.4 271 cCt/cTt 0 -AKR1E2 UCSF GRCh37 10 4872960 4872960 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 32 53 0 ENST00000298375.7:c.133G>A p.Glu45Lys p.E45K ENST00000298375 NM_001040177.2 45 Gag/Aag 0 -ALDH8A1 UCSF GRCh37 6 135260414 135260414 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 30 51 0 ENST00000265605.2:c.582G>A p.Leu194= p.L194= ENST00000265605 NM_022568.3 194 ctG/ctA 0 -ALDOA UCSF GRCh37 16 30080180 30080180 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 24 48 0 ENST00000395248.1:c.583G>A p.Asp195Asn p.D195N ENST00000395248 195 Gac/Aac 0 -ALDOB UCSF GRCh37 9 104192239 104192239 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 22 48 0 ENST00000374855.4:c.122G>A p.Gly41Glu p.G41E ENST00000374855 NM_000035.3 41 gGg/gAg 0 -ALG6 UCSF GRCh37 1 63894432 63894432 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 69 43 106 0 ENST00000371108.4:c.1087C>T p.Pro363Ser p.P363S ENST00000371108 NM_013339.3 363 Cct/Tct 0 -ALKBH3 UCSF GRCh37 11 43941489 43941489 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 39 75 0 ENST00000302708.4:c.790C>T p.His264Tyr p.H264Y ENST00000302708 NM_139178.3 264 Cac/Tac 0 -ALMS1 UCSF GRCh37 2 73679463 73679463 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 47 87 0 ENST00000264448.6:c.5806C>T p.Pro1936Ser p.P1936S ENST00000264448 NM_015120.4 1936 Cct/Tct 0 -ALMS1 UCSF GRCh37 2 73717043 73717043 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 74 51 121 0 ENST00000264448.6:c.7954C>T p.Pro2652Ser p.P2652S ENST00000264448 NM_015120.4 2652 Cca/Tca 0 -ALMS1 UCSF GRCh37 2 73830377 73830377 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 23 34 0 ENST00000264448.6:c.12305C>T p.Ala4102Val p.A4102V ENST00000264448 NM_015120.4 4102 gCt/gTt 0 -ALPK1 UCSF GRCh37 4 113333097 113333097 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 23 5 21 0 ENST00000458497.1:c.391G>A p.Ala131Thr p.A131T ENST00000458497 NM_001102406.1 131 Gcc/Acc 0 -ALS2 UCSF GRCh37 2 202606440 202606440 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 6 30 0 ENST00000264276.6:c.2308G>A p.Val770Ile p.V770I ENST00000264276 NM_020919.3 770 Gtc/Atc 0 -AMACR UCSF GRCh37 5 33989386 33989386 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 13 44 0 ENST00000382085.3:c.961C>T p.Gln321Ter p.Q321* ENST00000382085 321 Cag/Tag 0 -AMACR UCSF GRCh37 5 33988422 33988422 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 13 58 0 ENST00000382085.3:c.1176C>T p.Ile392= p.I392= ENST00000382085 392 atC/atT 0 -AMBRA1 UCSF GRCh37 11 46569868 46569868 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 84 54 124 0 ENST00000314845.3:c.63G>A p.Arg21= p.R21= ENST00000314845 NM_017749.3 21 cgG/cgA 0 -AMFR UCSF GRCh37 16 56419852 56419852 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 9 21 0 ENST00000290649.5:c.1359C>T p.Ser453= p.S453= ENST00000290649 NM_001144.5 453 agC/agT 0 -AMMECR1 UCSF GRCh37 X 109507796 109507796 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 13 44 0 ENST00000262844.5:c.505G>A p.Asp169Asn p.D169N ENST00000262844 NM_015365.2 169 Gac/Aac 0 -AMOT UCSF GRCh37 X 112065871 112065871 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 9 29 0 ENST00000371959.3:c.484G>A p.Gly162Arg p.G162R ENST00000371959 NM_001113490.1 162 Gga/Aga 0 -AMY2B UCSF GRCh37 1 104120231 104120231 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 120 69 255 0 ENST00000361355.4:c.1220+1G>A p.X407_splice ENST00000361355 NM_020978.4 0 -AMZ1 UCSF GRCh37 7 2752379 2752379 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 10 9 0 ENST00000312371.4:c.1364C>T p.Pro455Leu p.P455L ENST00000312371 NM_133463.1 455 cCc/cTc 0 -ANK1 UCSF GRCh37 8 41552836 41552836 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 9 26 0 ENST00000265709.8:c.3097G>A p.Glu1033Lys p.E1033K ENST00000265709 NM_001142446.1 1033 Gag/Aag 0 -ANK1 UCSF GRCh37 8 41542129 41542129 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 3 22 0 ENST00000265709.8:c.4593C>T p.Ser1531= p.S1531= ENST00000265709 NM_001142446.1 1531 agC/agT 0 -ANK2 UCSF GRCh37 4 114239724 114239724 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 6 28 0 ENST00000357077.4:c.2848G>A p.Gly950Ser p.G950S ENST00000357077 NM_001148.4 950 Ggc/Agc 0 -ANK2 UCSF GRCh37 4 114275995 114275995 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 111 20 90 0 ENST00000357077.4:c.6221G>A p.Gly2074Glu p.G2074E ENST00000357077 NM_001148.4 2074 gGa/gAa 0 -ANK3 UCSF GRCh37 10 61829559 61829559 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 31 38 0 ENST00000280772.2:c.11080G>A p.Glu3694Lys p.E3694K ENST00000280772 NM_020987.3 3694 Gaa/Aaa 0 -ANK3 UCSF GRCh37 10 61830291 61830291 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 37 69 0 ENST00000280772.2:c.10348G>A p.Gly3450Ser p.G3450S ENST00000280772 NM_020987.3 3450 Ggc/Agc 0 -ANKRD13C UCSF GRCh37 1 70819825 70819825 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 14 24 0 ENST00000370944.4:c.267C>T p.Ser89= p.S89= ENST00000370944 NM_030816.4 89 tcC/tcT 0 -ANKRD18B UCSF GRCh37 9 33548687 33548687 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 86 58 104 0 ENST00000290943.6:c.1715C>T p.Ala572Val p.A572V ENST00000290943 NM_001244752.1 572 gCt/gTt 0 -ANKRD30A UCSF GRCh37 10 37486358 37486358 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 111 19 135 0 ENST00000361713.1:c.2498C>T p.Ser833Phe p.S833F ENST00000361713 NM_052997.2 833 tCt/tTt 0 -ANKRD35 UCSF GRCh37 1 145562121 145562121 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 14 30 0 ENST00000355594.4:c.1809G>A p.Lys603= p.K603= ENST00000355594 NM_144698.4 603 aaG/aaA 0 -ANKRD5 UCSF GRCh37 20 10030860 10030860 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 20 64 0 ENST00000378380.3:c.1643G>A p.Gly548Glu p.G548E ENST00000378380 NM_198798.1 548 gGa/gAa 0 -ANKRD54 UCSF GRCh37 22 38228727 38228727 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 5 22 0 ENST00000215941.4:c.745C>T p.Leu249= p.L249= ENST00000215941 NM_138797.2 249 Ctg/Ttg 0 -ANKS1B UCSF GRCh37 12 99166907 99166907 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 26 113 0 ENST00000547776.2:c.3417C>T p.Asp1139= p.D1139= ENST00000547776 NM_152788.4 1139 gaC/gaT 0 -ANO3 UCSF GRCh37 11 26556003 26556003 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 19 44 0 ENST00000256737.3:c.870C>T p.His290= p.H290= ENST00000256737 NM_031418.2 290 caC/caT 0 -ANO7 UCSF GRCh37 2 242138787 242138787 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 5 18 0 ENST00000274979.8:c.528G>A p.Trp176Ter p.W176* ENST00000274979 NM_001001891.3 176 tgG/tgA 0 -ANTXR2 UCSF GRCh37 4 80905121 80905121 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 80 20 109 0 ENST00000307333.7:c.1090G>A p.Glu364Lys p.E364K ENST00000307333 NM_001145794.1 364 Gaa/Aaa 0 -AP3D1 UCSF GRCh37 19 2129445 2129445 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 5 21 0 ENST00000355272.6:c.604G>A p.Ala202Thr p.A202T ENST00000355272 NM_001261826.1 202 Gct/Act 0 -AP4E1 UCSF GRCh37 15 51250900 51250900 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 135 26 147 0 ENST00000261842.5:c.1760G>A p.Arg587Lys p.R587K ENST00000261842 NM_001252127.1 587 aGa/aAa 0 -APEH UCSF GRCh37 3 49720324 49720324 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 15 26 0 ENST00000296456.5:c.1932C>T p.Asp644= p.D644= ENST00000296456 NM_001640.3 644 gaC/gaT 0 -APIP UCSF GRCh37 11 34916587 34916587 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 91 11 65 0 ENST00000395787.3:c.128G>A p.Gly43Glu p.G43E ENST00000395787 NM_015957.2 43 gGg/gAg 0 -APOBEC3H UCSF GRCh37 22 39497501 39497501 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 18 7 18 0 ENST00000401756.1:c.410G>A p.Gly137Asp p.G137D ENST00000401756 NM_001166003.1 137 gGc/gAc 0 -APOO UCSF GRCh37 X 23897071 23897071 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 3 21 16 0 ENST00000379226.4:c.198G>A p.Gln66= p.Q66= ENST00000379226 NM_024122.4 66 caG/caA 0 -APPL2 UCSF GRCh37 12 105591584 105591584 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 11 34 0 ENST00000551662.1:c.1029C>T p.Asp343= p.D343= ENST00000551662 343 gaC/gaT 0 -ARAP3 UCSF GRCh37 5 141033770 141033770 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 13 17 0 ENST00000239440.4:c.4382G>A p.Arg1461Lys p.R1461K ENST00000239440 NM_022481.5 1461 aGg/aAg 0 -ARFGAP3 UCSF GRCh37 22 43243638 43243638 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 8 106 0 ENST00000263245.5:c.70G>A p.Val24Met p.V24M ENST00000263245 NM_014570.4 24 Gtg/Atg 0 -ARHGAP21 UCSF GRCh37 10 24874187 24874187 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 89 54 164 0 ENST00000396432.2:c.5031C>T p.Thr1677= p.T1677= ENST00000396432 NM_020824.3 1677 acC/acT 0 -ARHGAP28 UCSF GRCh37 18 6896545 6896545 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 8 57 0 ENST00000419673.2:c.1473C>T p.Leu491= p.L491= ENST00000419673 NM_001010000.2 491 ctC/ctT 0 -ARHGAP30 UCSF GRCh37 1 161024235 161024235 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 4 19 0 ENST00000368013.3:c.457G>A p.Val153Ile p.V153I ENST00000368013 NM_181720.2 153 Gta/Ata 0 -ARHGAP35 UCSF GRCh37 19 47425094 47425094 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 25 92 0 ENST00000404338.3:c.3162G>A p.Gly1054= p.G1054= ENST00000404338 NM_004491.4 1054 ggG/ggA 0 -ARHGAP42 UCSF GRCh37 11 100847606 100847606 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 35 60 0 ENST00000298815.8:c.2297C>T p.Pro766Leu p.P766L ENST00000298815 NM_152432.2 766 cCc/cTc 0 -ARHGDIA UCSF GRCh37 17 79827721 79827721 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 3 13 0 ENST00000269321.7:c.86C>T p.Pro29Leu p.P29L ENST00000269321 NM_001185078.1 29 cCc/cTc 0 -ARHGEF15 UCSF GRCh37 17 8218574 8218574 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 11 21 0 ENST00000361926.3:c.1239C>T p.Pro413= p.P413= ENST00000361926 NM_173728.3 413 ccC/ccT 0 -ARHGEF2 UCSF GRCh37 1 155931569 155931569 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 18 35 0 ENST00000361247.4:c.1351C>T p.Pro451Ser p.P451S ENST00000361247 NM_001162384.1 451 Cct/Tct 0 -ARHGEF33 UCSF GRCh37 2 39193159 39193159 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 88 41 107 0 ENST00000409978.1:c.2356G>A p.Glu786Lys p.E786K ENST00000409978 786 Gaa/Aaa 0 -ARHGEF40 UCSF GRCh37 14 21543874 21543874 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 9 18 0 ENST00000298694.4:c.1689C>T p.Pro563= p.P563= ENST00000298694 NM_001278529.1 563 ccC/ccT 0 -ARHGEF6 UCSF GRCh37 X 135767925 135767925 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 8 77 0 ENST00000250617.6:c.1303C>T p.Pro435Ser p.P435S ENST00000250617 NM_004840.2 435 Cct/Tct 0 -ARID1A UCSF GRCh37 1 27106143 27106143 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 60 41 74 0 ENST00000324856.7:c.5754G>A p.Arg1918= p.R1918= ENST00000324856 NM_006015.4 1918 cgG/cgA 0 -ARID4B UCSF GRCh37 1 235386532 235386532 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 12 42 0 ENST00000264183.3:c.1014G>A p.Leu338= p.L338= ENST00000264183 NM_016374.5 338 ttG/ttA 0 -ARID5B UCSF GRCh37 10 63851799 63851799 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 112 16 113 1 ENST00000279873.7:c.2577G>A p.Arg859= p.R859= ENST00000279873 NM_032199.2 859 agG/agA 0 -ARNT2 UCSF GRCh37 15 80845102 80845102 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 56 107 0 ENST00000303329.4:c.1076G>A p.Gly359Asp p.G359D ENST00000303329 NM_014862.3 359 gGc/gAc 0 -ARSI UCSF GRCh37 5 149677350 149677350 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 4 19 0 ENST00000328668.7:c.1137G>A p.Glu379= p.E379= ENST00000328668 NM_001012301.2 379 gaG/gaA 0 -ART5 UCSF GRCh37 11 3661212 3661212 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 5 22 51 0 ENST00000397068.3:c.447C>T p.Gly149= p.G149= ENST00000397068 NM_053017.3 149 ggC/ggT 0 -ASAP2 UCSF GRCh37 2 9496363 9496363 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 115 17 72 0 ENST00000281419.3:c.1216G>A p.Gly406Arg p.G406R ENST00000281419 NM_003887.2 406 Ggg/Agg 0 -ASAP3 UCSF GRCh37 1 23758293 23758293 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 14 36 0 ENST00000336689.3:c.2442C>T p.Ala814= p.A814= ENST00000336689 NM_017707.3 814 gcC/gcT 0 -ASCC3 UCSF GRCh37 6 101053571 101053571 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 22 67 0 ENST00000369162.2:c.5050C>T p.Leu1684Phe p.L1684F ENST00000369162 NM_006828.2 1684 Ctc/Ttc 0 -ASGR2 UCSF GRCh37 17 7017555 7017555 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 15 35 0 ENST00000380952.2:c.5C>T p.Ala2Val p.A2V ENST00000380952 NM_080912.3 2 gCc/gTc 0 -ASGR2 UCSF GRCh37 17 7010367 7010367 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 7 34 0 ENST00000380952.2:c.615C>T p.Cys205= p.C205= ENST00000380952 NM_080912.3 205 tgC/tgT 0 -ASNA1 UCSF GRCh37 19 12858848 12858849 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P01_Rec Untested WXS Illumina HiSeq 6 0 ENST00000591090.1:c.982dup p.Ala328GlyfsTer90 p.A328Gfs*90 ENST00000591090 326 cgg/cgGg 0 -ASNA1 UCSF GRCh37 19 12858790 12858790 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 9 28 0 ENST00000591090.1:c.919G>A p.Glu307Lys p.E307K ENST00000591090 307 Gag/Aag 0 -ASNS UCSF GRCh37 7 97488694 97488694 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 25 66 0 ENST00000175506.4:c.504G>A p.Lys168= p.K168= ENST00000175506 NM_183356.3 168 aaG/aaA 0 -ASPM UCSF GRCh37 1 197102528 197102528 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 30 60 0 ENST00000367409.4:c.2371G>A p.Ala791Thr p.A791T ENST00000367409 NM_018136.4 791 Gct/Act 0 -ASPM UCSF GRCh37 1 197104229 197104229 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 13 50 0 ENST00000367409.4:c.2170G>A p.Glu724Lys p.E724K ENST00000367409 NM_018136.4 724 Gaa/Aaa 0 -ASTL UCSF GRCh37 2 96795688 96795688 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 6 24 0 ENST00000342380.2:c.749C>T p.Thr250Ile p.T250I ENST00000342380 NM_001002036.3 250 aCc/aTc 0 -ASTN2 UCSF GRCh37 9 119203066 119203066 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 35 70 0 ENST00000361209.2:c.3451G>A p.Ala1151Thr p.A1151T ENST00000361209 NM_014010.4 1151 Gct/Act 0 -ATE1 UCSF GRCh37 10 123600639 123600639 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 19 44 0 ENST00000369043.3:c.1115C>T p.Pro372Leu p.P372L ENST00000369043 NM_007041.2 372 cCt/cTt 0 -ATF6B UCSF GRCh37 6 32085767 32085767 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 14 25 0 ENST00000375203.3:c.1293G>A p.Gly431= p.G431= ENST00000375203 NM_001136153.1 431 ggG/ggA 0 -ATG13 UCSF GRCh37 11 46671758 46671758 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 42 75 0 ENST00000528494.1:c.349G>A p.Val117Met p.V117M ENST00000528494 NM_001205119.1 117 Gtg/Atg 0 -ATM UCSF GRCh37 11 108165786 108165786 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 77 48 143 0 ENST00000278616.4:c.4909G>A p.Asp1637Asn p.D1637N ENST00000278616 NM_000051.3 1637 Gat/Aat 0 -ATN1 UCSF GRCh37 12 7046299 7046299 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 12 38 0 ENST00000356654.4:c.1869C>T p.Ser623= p.S623= ENST00000356654 NM_001007026.1 623 tcC/tcT 0 -ATP10D UCSF GRCh37 4 47583992 47583992 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 39 83 0 ENST00000273859.3:c.3664G>A p.Asp1222Asn p.D1222N ENST00000273859 NM_020453.3 1222 Gat/Aat 0 -ATP10D UCSF GRCh37 4 47514620 47514620 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 12 62 0 ENST00000273859.3:c.63G>A p.Arg21= p.R21= ENST00000273859 NM_020453.3 21 agG/agA 0 -ATP1A4 UCSF GRCh37 1 160136342 160136342 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 6 46 0 ENST00000368081.4:c.1072C>T p.Arg358Cys p.R358C ENST00000368081 NM_144699.3 358 Cgc/Tgc 0 -ATP5J2-PTCD1 UCSF GRCh37 7 99017752 99017752 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 35 58 0 ENST00000413834.1:c.2088C>T p.Tyr696= p.Y696= ENST00000413834 696 taC/taT 0 -ATP6AP1L UCSF GRCh37 5 81608429 81608429 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 38 125 0 ENST00000380167.4:c.132-1G>A p.X44_splice ENST00000380167 0 -ATP6V0A1 UCSF GRCh37 17 40652850 40652850 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 63 103 0 ENST00000264649.6:c.1826C>T p.Ser609Phe p.S609F ENST00000264649 NM_001130020.1 609 tCt/tTt 0 -ATP8B4 UCSF GRCh37 15 50168672 50168672 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 29 58 0 ENST00000284509.6:c.2830G>A p.Gly944Arg p.G944R ENST00000284509 NM_024837.3 944 Gga/Aga 0 -ATP9B UCSF GRCh37 18 77133916 77133916 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 11 28 0 ENST00000426216.2:c.3089G>A p.Gly1030Glu p.G1030E ENST00000426216 NM_198531.3 1030 gGg/gAg 0 -ATRX UCSF GRCh37 X 76938230 76938231 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P01_Rec Untested WXS Illumina HiSeq 92 0 ENST00000373344.5:c.2518dup p.Arg840LysfsTer9 p.R840Kfs*9 ENST00000373344 NM_000489.3 839 -/A 0 -ATXN2L UCSF GRCh37 16 28841357 28841357 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 4 11 0 ENST00000395547.2:c.1012G>A p.Glu338Lys p.E338K ENST00000395547 NM_148414.2 338 Gag/Aag 0 -ATXN7L1 UCSF GRCh37 7 105279975 105279975 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 29 79 0 ENST00000419735.3:c.904C>T p.Pro302Ser p.P302S ENST00000419735 NM_020725.1 302 Ccc/Tcc 0 -AUTS2 UCSF GRCh37 7 70228160 70228160 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 11 11 0 ENST00000342771.4:c.1047G>A p.Gln349= p.Q349= ENST00000342771 NM_015570.2 349 caG/caA 0 -AVPR2 UCSF GRCh37 X 153171289 153171289 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 2 17 11 0 ENST00000358927.2:c.329C>T p.Ala110Val p.A110V ENST00000358927 110 gCc/gTc 0 -AXDMT-ND1 UCSF GRCh37 1 179364322 179364322 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 127 154 0 ENST00000367618.3:c.1094C>T p.Ala365Val p.A365V ENST00000367618 NM_144696.5 365 gCg/gTg 0 -B4GALNT4 UCSF GRCh37 11 373242 373242 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 5 34 0 ENST00000329962.6:c.587G>A p.Ser196Asn p.S196N ENST00000329962 NM_178537.4 196 aGt/aAt 0 -NCR3LG1 UCSF GRCh37 11 17378221 17378221 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 16 33 0 ENST00000338965.4:c.94G>A p.Ala32Thr p.A32T ENST00000338965 NM_001202439.1 32 Gca/Aca 0 -BATF UCSF GRCh37 14 76012859 76012859 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 7 13 0 ENST00000286639.6:c.223C>T p.Leu75Phe p.L75F ENST00000286639 NM_006399.3 75 Ctc/Ttc 0 -BAZ1A UCSF GRCh37 14 35262103 35262103 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 82 16 76 0 ENST00000360310.1:c.1388G>A p.Gly463Glu p.G463E ENST00000360310 NM_013448.2 463 gGa/gAa 0 -BBS10 UCSF GRCh37 12 76740484 76740484 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 23 98 0 ENST00000393262.3:c.1281C>T p.Asp427= p.D427= ENST00000393262 NM_024685.3 427 gaC/gaT 0 -BBX UCSF GRCh37 3 107435664 107435664 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 35 68 0 ENST00000325805.8:c.373G>A p.Glu125Lys p.E125K ENST00000325805 125 Gaa/Aaa 0 -BCAS1 UCSF GRCh37 20 52644934 52644934 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 79 58 89 0 ENST00000395961.3:c.720G>A p.Gly240= p.G240= ENST00000395961 NM_003657.2 240 ggG/ggA 0 -BCLAF1 UCSF GRCh37 6 136599392 136599392 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 213 46 206 0 ENST00000531224.1:c.627C>T p.Ser209= p.S209= ENST00000531224 NM_001077441.1 209 tcC/tcT 0 -BCO2 UCSF GRCh37 11 112050076 112050076 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 91 16 136 0 ENST00000357685.5:c.164C>T p.Ala55Val p.A55V ENST00000357685 55 gCa/gTa 0 -BCO2 UCSF GRCh37 11 112064368 112064368 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0021 P01_Rec Untested WXS Illumina HiSeq 43 7 61 0 ENST00000357685.5:c.465G>A p.Lys155= p.K155= ENST00000357685 155 aaG/aaA 0 -BCOR UCSF GRCh37 X 39931725 39931725 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 6 14 0 ENST00000378444.4:c.2874G>A p.Lys958= p.K958= ENST00000378444 NM_001123385.1 958 aaG/aaA 0 -BDP1 UCSF GRCh37 5 70763227 70763227 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 108 53 185 0 ENST00000358731.4:c.832G>A p.Glu278Lys p.E278K ENST00000358731 NM_018429.2 278 Gaa/Aaa 0 -BDP1 UCSF GRCh37 5 70811923 70811923 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 26 25 45 0 ENST00000358731.4:c.4685A>G p.Lys1562Arg p.K1562R ENST00000358731 NM_018429.2 1562 aAg/aGg 0 -BDP1 UCSF GRCh37 5 70806948 70806948 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 101 28 150 0 ENST00000358731.4:c.4029C>T p.Asp1343= p.D1343= ENST00000358731 NM_018429.2 1343 gaC/gaT 0 -BEMT-ND2 UCSF GRCh37 X 18183254 18183254 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 66 11 49 0 ENST00000380033.4:c.2275C>T p.Arg759Cys p.R759C ENST00000380033 NM_153346.4 759 Cgt/Tgt 0 -BIRC2 UCSF GRCh37 11 102234398 102234398 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 14 48 0 ENST00000227758.2:c.1075-1G>A p.X359_splice ENST00000227758 NM_001166.4 0 -BIVM UCSF GRCh37 13 103492195 103492195 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 47 103 0 ENST00000257336.1:c.1492G>A p.Asp498Asn p.D498N ENST00000257336 NM_017693.3 498 Gat/Aat 0 -BMPER UCSF GRCh37 7 34125416 34125416 + missense_variant Missense_Mutation SNP C C G NOVEL P01_Rec Untested WXS Illumina HiSeq 24 9 33 0 ENST00000297161.2:c.1457C>G p.Ala486Gly p.A486G ENST00000297161 NM_133468.4 486 gCg/gGg 0 -BMS1 UCSF GRCh37 10 43294010 43294010 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 38 64 0 ENST00000374518.5:c.2184G>A p.Lys728= p.K728= ENST00000374518 NM_014753.3 728 aaG/aaA 0 -BOLL UCSF GRCh37 2 198631273 198631273 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 33 16 47 0 ENST00000321801.7:c.571C>T p.Pro191Ser p.P191S ENST00000321801 NM_197970.2 191 Cct/Tct 0 -BPGM UCSF GRCh37 7 134346330 134346330 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 32 68 0 ENST00000393132.2:c.71G>A p.Ser24Asn p.S24N ENST00000393132 NM_199186.2 24 aGc/aAc 0 -BPGM UCSF GRCh37 7 134346538 134346538 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 16 36 0 ENST00000393132.2:c.279G>A p.Gly93= p.G93= ENST00000393132 NM_199186.2 93 ggG/ggA 0 -BPIFA1 UCSF GRCh37 20 31829272 31829272 + synonymous_variant Silent SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 58 48 66 0 ENST00000354297.4:c.663C>T p.Gly221= p.G221= ENST00000354297 NM_130852.2 221 ggC/ggT 0 -BPIFB2 UCSF GRCh37 20 31606597 31606597 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 19 29 0 ENST00000170150.3:c.824G>A p.Gly275Asp p.G275D ENST00000170150 NM_025227.2 275 gGt/gAt 0 -BRE UCSF GRCh37 2 28464226 28464226 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 16 58 0 ENST00000344773.2:c.817G>A p.Glu273Lys p.E273K ENST00000344773 NM_004899.4 273 Gag/Aag 0 -BRIP1 UCSF GRCh37 17 59878736 59878736 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 128 59 172 0 ENST00000259008.2:c.1018C>T p.Leu340Phe p.L340F ENST00000259008 NM_032043.2 340 Ctt/Ttt 0 -BRIX1 UCSF GRCh37 5 34925341 34925341 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 16 12 31 0 ENST00000336767.5:c.803T>C p.Val268Ala p.V268A ENST00000336767 NM_018321.3 268 gTc/gCc 0 -BSCL2 UCSF GRCh37 11 62457979 62457979 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 8 35 0 ENST00000433053.1:c.1249G>A p.Glu417Lys p.E417K ENST00000433053 417 Gaa/Aaa 0 -BTN2A1 UCSF GRCh37 6 26459959 26459959 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 23 53 0 ENST00000312541.5:c.333C>T p.Val111= p.V111= ENST00000312541 NM_007049.4 111 gtC/gtT 0 -BTNL8 UCSF GRCh37 5 180376987 180376987 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 33 26 0 ENST00000340184.4:c.946C>T p.Gln316Ter p.Q316* ENST00000340184 NM_001040462.2 316 Cag/Tag 0 -BZRAP1 UCSF GRCh37 17 56384227 56384227 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 9 48 0 ENST00000343736.4:c.5086C>T p.Pro1696Ser p.P1696S ENST00000343736 1696 Cct/Tct 0 -BZRAP1 UCSF GRCh37 17 56395646 56395646 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 6 27 0 ENST00000343736.4:c.1867C>T p.Pro623Ser p.P623S ENST00000343736 623 Cct/Tct 0 -LCOR UCSF GRCh37 10 98744633 98744633 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 32 112 0 ENST00000286067.2:c.3486G>A p.Arg1162= p.R1162= ENST00000286067 NM_015652.2 1162 agG/agA 0 -C10orf120 UCSF GRCh37 10 124457495 124457496 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P01_Rec Untested WXS Illumina HiSeq 8 0 ENST00000329446.4:c.762dup p.Cys255MetfsTer8 p.C255Mfs*8 ENST00000329446 NM_001010912.2 254 aaa/aaAa 0 -C10orf2 UCSF GRCh37 10 102748828 102748828 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 110 20 76 0 ENST00000311916.2:c.861G>A p.Thr287= p.T287= ENST00000311916 NM_021830.4 287 acG/acA 0 -C10orf28 UCSF GRCh37 10 99968816 99968816 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 64 110 0 ENST00000298999.3:c.945C>T p.Ile315= p.I315= ENST00000298999 NM_014472.4 315 atC/atT 0 -C10orf92 UCSF GRCh37 10 134628221 134628221 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 2 14 20 0 ENST00000368586.5:c.7218C>T p.Asp2406= p.D2406= ENST00000368586 NM_001200049.2 2406 gaC/gaT 0 -C11orf41 UCSF GRCh37 11 33604909 33604909 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 8 32 0 ENST00000321505.4:c.3537C>T p.Asn1179= p.N1179= ENST00000321505 1179 aaC/aaT 0 -C11orf80 UCSF GRCh37 11 66571660 66571660 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 25 96 0 ENST00000360962.4:c.1037C>T p.Ser346Phe p.S346F ENST00000360962 NM_024650.3 346 tCc/tTc 0 -C14orf159 UCSF GRCh37 14 91681764 91681764 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 15 52 0 ENST00000518868.1:c.1580G>A p.Gly527Glu p.G527E ENST00000518868 NM_001286470.1 527 gGa/gAa 0 -C14orf159 UCSF GRCh37 14 91681784 91681784 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0069,snp132_rs115874122 P01_Rec Untested WXS Illumina HiSeq 25 15 51 0 ENST00000518868.1:c.1600G>A p.Ala534Thr p.A534T ENST00000518868 NM_001286470.1 534 Gca/Aca 0 -C14orf183 UCSF GRCh37 14 50558224 50558224 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 4 22 0 ENST00000305273.1:c.344C>T p.Ser115Phe p.S115F ENST00000305273 NM_001014830.1 115 tCc/tTc 0 -C15orf55 UCSF GRCh37 15 34640190 34640190 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 29 44 0 ENST00000333756.4:c.37G>A p.Asp13Asn p.D13N ENST00000333756 NM_175741.1 13 Gat/Aat 0 -C17orf57 UCSF GRCh37 17 45479557 45479557 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 13 65 0 ENST00000331493.2:c.2005G>A p.Ala669Thr p.A669T ENST00000331493 NM_152347.4 669 Gcc/Acc 0 -C17orf90 UCSF GRCh37 17 79632460 79632460 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 8 19 0 ENST00000374741.3:c.215G>A p.Gly72Asp p.G72D ENST00000374741 NM_001039842.1 72 gGc/gAc 0 -C18orf1 UCSF GRCh37 18 13645276 13645276 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 27 55 0 ENST00000361205.4:c.541C>T p.Pro181Ser p.P181S ENST00000361205 181 Cct/Tct 0 -C18orf34 UCSF GRCh37 18 30913143 30913143 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P01_Rec Untested WXS Illumina HiSeq 6 0 ENST00000383096.3:c.874delA p.Met292TrpfsTer3 p.M292Wfs*3 ENST00000383096 292 Atg/tg 0 -C18orf34 UCSF GRCh37 18 30803094 30803094 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 44 148 0 ENST00000383096.3:c.1908C>T p.Thr636= p.T636= ENST00000383096 636 acC/acT 0 -C18orf55 UCSF GRCh37 18 71816298 71816298 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 59 31 76 0 ENST00000169551.6:c.255G>A p.Val85= p.V85= ENST00000169551 NM_014177.2 85 gtG/gtA 0 -C1GALT1 UCSF GRCh37 7 7278542 7278542 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 15 53 0 ENST00000436587.2:c.877C>T p.Pro293Ser p.P293S ENST00000436587 NM_020156.4 293 Cct/Tct 0 -FIRRM UCSF GRCh37 1 169773349 169773349 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 112 26 121 0 ENST00000286031.6:c.446A>G p.Asp149Gly p.D149G ENST00000286031 NM_018186.2 149 gAt/gGt 0 -C1orf116 UCSF GRCh37 1 207196449 207196449 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 13 42 0 ENST00000359470.5:c.660G>A p.Gly220= p.G220= ENST00000359470 NM_023938.5 220 ggG/ggA 0 -C1orf87 UCSF GRCh37 1 60505800 60505800 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.00092 P01_Rec Untested WXS Illumina HiSeq 76 34 81 0 ENST00000371201.3:c.536C>T p.Ala179Val p.A179V ENST00000371201 NM_152377.2 179 gCc/gTc 0 -C1orf95 UCSF GRCh37 1 226784582 226784582 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 28 45 0 ENST00000366788.3:c.282G>A p.Trp94Ter p.W94* ENST00000366788 NM_001003665.3 94 tgG/tgA 0 -C1QTNF2 UCSF GRCh37 5 159776608 159776608 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 4 38 0 ENST00000393975.3:c.560G>A p.Ser187Asn p.S187N ENST00000393975 NM_031908.4 187 aGc/aAc 0 -C1S UCSF GRCh37 12 7172489 7172489 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 79 16 84 0 ENST00000406697.1:c.603G>A p.Arg201= p.R201= ENST00000406697 201 agG/agA 0 -C20orf12 UCSF GRCh37 20 18395058 18395058 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 27 55 0 ENST00000262547.5:c.1176C>T p.Ser392= p.S392= ENST00000262547 NM_001099407.1 392 tcC/tcT 0 -C20orf12 UCSF GRCh37 20 18371103 18371103 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 77 14 67 0 ENST00000262547.5:c.1810C>T p.Pro604Ser p.P604S ENST00000262547 NM_001099407.1 604 Cct/Tct 0 -C20orf194 UCSF GRCh37 20 3251135 3251135 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 23 43 0 ENST00000252032.9:c.2724C>T p.Ser908= p.S908= ENST00000252032 NM_001009984.2 908 agC/agT 0 -C21orf7 UCSF GRCh37 21 30464779 30464779 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 40 73 0 ENST00000399947.2:c.247G>A p.Ala83Thr p.A83T ENST00000399947 NM_020152.2 83 Gca/Aca 0 -C22orf29 UCSF GRCh37 22 19839596 19839596 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 13 23 0 ENST00000405640.1:c.189G>A p.Glu63= p.E63= ENST00000405640 63 gaG/gaA 0 -C2CD3 UCSF GRCh37 11 73825484 73825484 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 17 21 0 ENST00000313663.7:c.1675C>T p.Pro559Ser p.P559S ENST00000313663 NM_015531.4 559 Cct/Tct 0 -C3orf20 UCSF GRCh37 3 14724457 14724457 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 17 33 0 ENST00000253697.3:c.237G>A p.Val79= p.V79= ENST00000253697 NM_032137.4 79 gtG/gtA 0 -C3orf39 UCSF GRCh37 3 43121858 43121858 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 8 24 0 ENST00000344697.2:c.1066C>T p.Pro356Ser p.P356S ENST00000344697 NM_032806.5 356 Ccc/Tcc 0 -C3orf54 UCSF GRCh37 3 49842058 49842058 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 3 21 0 ENST00000333323.4:c.502G>A p.Glu168Lys p.E168K ENST00000333323 NM_203370.1 168 Gaa/Aaa 0 -C3orf55 UCSF GRCh37 3 157289050 157289050 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 15 27 0 ENST00000449199.2:c.168G>A p.Leu56= p.L56= ENST00000449199 NM_001130002.2 56 ctG/ctA 0 -C3orf77 UCSF GRCh37 3 44285883 44285883 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P01_Rec Untested WXS Illumina HiSeq 17 0 ENST00000309765.4:c.1893del p.Ala632LeufsTer5 p.A632Lfs*5 ENST00000309765 NM_001145030.1 629 Aaa/aa 0 -C3orf77 UCSF GRCh37 3 44285367 44285367 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 23 116 0 ENST00000309765.4:c.1369C>T p.Pro457Ser p.P457S ENST00000309765 NM_001145030.1 457 Cct/Tct 0 -C3orf77 UCSF GRCh37 3 44286639 44286639 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 39 85 0 ENST00000309765.4:c.2641G>A p.Glu881Lys p.E881K ENST00000309765 NM_001145030.1 881 Gag/Aag 0 -C4orf19 UCSF GRCh37 4 37592527 37592527 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 24 44 0 ENST00000284437.6:c.850G>A p.Asp284Asn p.D284N ENST00000284437 NM_018302.2 284 Gat/Aat 0 -C4orf6 UCSF GRCh37 4 5527144 5527144 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 26 38 0 ENST00000195455.2:c.87G>A p.Gly29= p.G29= ENST00000195455 NM_005750.2 29 ggG/ggA 0 -C5 UCSF GRCh37 9 123734242 123734242 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 16 43 0 ENST00000223642.1:c.4046G>A p.Ser1349Asn p.S1349N ENST00000223642 NM_001735.2 1349 aGt/aAt 0 -C5 UCSF GRCh37 9 123783936 123783936 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 112 48 83 0 ENST00000223642.1:c.1153G>A p.Gly385Arg p.G385R ENST00000223642 NM_001735.2 385 Gga/Aga 0 -C5orf42 UCSF GRCh37 5 37125417 37125417 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 118 32 142 0 ENST00000425232.2:c.8725G>A p.Ala2909Thr p.A2909T ENST00000425232 NM_023073.3 2909 Gca/Aca 0 -C5orf43 UCSF GRCh37 5 60455983 60455983 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 16 73 0 ENST00000339020.3:c.16G>A p.Ala6Thr p.A6T ENST00000339020 NM_001048249.3 6 Gct/Act 0 -C6orf204 UCSF GRCh37 6 118832578 118832578 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 26 76 1 ENST00000368488.5:c.1149G>A p.Arg383= p.R383= ENST00000368488 NM_001178035.1 383 cgG/cgA 0 -C6orf58 UCSF GRCh37 6 127899845 127899845 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 83 46 101 0 ENST00000329722.7:c.316C>T p.Pro106Ser p.P106S ENST00000329722 NM_001010905.2 106 Cca/Tca 0 -C7 UCSF GRCh37 5 40958327 40958327 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 29 68 0 ENST00000313164.9:c.1453G>A p.Ala485Thr p.A485T ENST00000313164 NM_000587.2 485 Gcg/Acg 0 -C7 UCSF GRCh37 5 40979915 40979915 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 73 18 69 0 ENST00000313164.9:c.2254G>A p.Gly752Ser p.G752S ENST00000313164 NM_000587.2 752 Ggt/Agt 0 -C7orf42 UCSF GRCh37 7 66416123 66416123 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 29 29 0 ENST00000341567.4:c.780+1G>A p.X260_splice ENST00000341567 NM_017994.4 0 -SPACDR UCSF GRCh37 7 100061155 100061155 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 20 39 0 ENST00000332375.3:c.218C>T p.Ser73Phe p.S73F ENST00000332375 NM_001004323.1 73 tCc/tTc 0 -C8B UCSF GRCh37 1 57395081 57395081 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 20 46 0 ENST00000371237.4:c.1772C>T p.Ser591Phe p.S591F ENST00000371237 NM_000066.3 591 tCc/tTc 0 -C9orf102 UCSF GRCh37 9 98678678 98678678 + missense_variant Missense_Mutation SNP A A T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 28 71 0 ENST00000288985.7:c.1153A>T p.Thr385Ser p.T385S ENST00000288985 NM_001010895.2 385 Act/Tct 0 -CFAP95 UCSF GRCh37 9 72435886 72435886 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 21 10 16 0 ENST00000377197.3:c.91G>A p.Gly31Ser p.G31S ENST00000377197 NM_001010940.1 31 Ggc/Agc 0 -C9orf79 UCSF GRCh37 9 90500676 90500676 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 33 62 0 ENST00000325643.5:c.1274C>T p.Ala425Val p.A425V ENST00000325643 NM_178828.4 425 gCc/gTc 0 -CA13 UCSF GRCh37 8 86171690 86171690 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 6 76 0 ENST00000321764.3:c.276G>A p.Arg92= p.R92= ENST00000321764 NM_198584.2 92 cgG/cgA 0 -CABIN1 UCSF GRCh37 22 24468334 24468334 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 10 15 0 ENST00000398319.2:c.2506G>A p.Glu836Lys p.E836K ENST00000398319 NM_001199281.1 836 Gag/Aag 0 -CABYR UCSF GRCh37 18 21739906 21739906 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 72 135 0 ENST00000399496.3:c.1012G>A p.Val338Ile p.V338I ENST00000399496 NM_012189.3 338 Gta/Ata 0 -CACNA1B UCSF GRCh37 9 140811728 140811728 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 96 23 43 0 ENST00000371372.1:c.811G>A p.Glu271Lys p.E271K ENST00000371372 NM_001243812.1 271 Gag/Aag 0 -CACNA1H UCSF GRCh37 16 1262081 1262081 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 19 31 0 ENST00000348261.5:c.4702G>A p.Glu1568Lys p.E1568K ENST00000348261 NM_021098.2 1568 Gag/Aag 0 -CACNA2D1 UCSF GRCh37 7 81636994 81636994 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 5 30 0 ENST00000356860.3:c.1440+1G>A p.X480_splice ENST00000356860 NM_000722.2 0 -CACNA2D3 UCSF GRCh37 3 54871232 54871232 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 120 39 92 0 ENST00000474759.1:c.1445C>T p.Pro482Leu p.P482L ENST00000474759 NM_018398.2 482 cCt/cTt 0 -CACNA2D3 UCSF GRCh37 3 54786625 54786625 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 73 24 39 0 ENST00000474759.1:c.1168-1G>A p.X390_splice ENST00000474759 NM_018398.2 0 -CACNA2D3 UCSF GRCh37 3 55108230 55108230 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 83 29 58 0 ENST00000474759.1:c.3273G>A p.Arg1091= p.R1091= ENST00000474759 NM_018398.2 1091 agG/agA 0 -CACNB4 UCSF GRCh37 2 152830192 152830192 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 66 18 66 0 ENST00000539935.1:c.148-90308C>T *50* ENST00000539935 NM_001145798.1 0 -CAD UCSF GRCh37 2 27454858 27454858 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 21 49 0 ENST00000264705.4:c.2411C>T p.Thr804Ile p.T804I ENST00000264705 NM_004341.3 804 aCt/aTt 0 -CALML4 UCSF GRCh37 15 68497602 68497602 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 4 36 0 ENST00000467889.1:c.113G>A p.Ser38Asn p.S38N ENST00000467889 NM_033429.2 38 aGc/aAc 0 -CAMK2D UCSF GRCh37 4 114458538 114458538 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 29 87 0 ENST00000342666.5:c.476G>A p.Gly159Asp p.G159D ENST00000342666 159 gGc/gAc 0 -CAMSAP3 UCSF GRCh37 19 7673051 7673051 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 4 10 0 ENST00000446248.2:c.742C>T p.Pro248Ser p.P248S ENST00000446248 NM_001080429.2 248 Ccc/Tcc 0 -CAPN9 UCSF GRCh37 1 230883271 230883271 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 23 25 0 ENST00000271971.2:c.29C>T p.Pro10Leu p.P10L ENST00000271971 NM_006615.2 10 cCt/cTt 0 -CAPS2 UCSF GRCh37 12 75715268 75715268 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 44 133 0 ENST00000409445.3:c.437G>A p.Gly146Asp p.G146D ENST00000409445 NM_032606.3 146 gGc/gAc 0 -CARM1 UCSF GRCh37 19 11018797 11018797 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 5 26 0 ENST00000327064.4:c.429G>A p.Glu143= p.E143= ENST00000327064 NM_199141.1 143 gaG/gaA 0 -CASC1 UCSF GRCh37 12 25308335 25308335 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 18 49 0 ENST00000395987.3:c.210G>A p.Arg70= p.R70= ENST00000395987 NM_018272.3 70 agG/agA 0 -CASKIN2 UCSF GRCh37 17 73499335 73499335 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 8 16 0 ENST00000321617.3:c.1820G>A p.Gly607Glu p.G607E ENST00000321617 NM_020753.4 607 gGg/gAg 0 -CASP7 UCSF GRCh37 10 115489265 115489265 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 18 34 0 ENST00000369321.2:c.977C>T p.Ser326Phe p.S326F ENST00000369321 NM_033338.5 326 tCc/tTc 0 -CASP8 UCSF GRCh37 2 202134309 202134309 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 7 35 0 ENST00000358485.4:c.483-1930G>A *161* ENST00000358485 NM_001080125.1 0 -CASP8AP2 UCSF GRCh37 6 90573777 90573777 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 63 182 0 ENST00000551025.1:n.3786C>T *1262* ENST00000551025 0 -CASP8AP2 UCSF GRCh37 6 90575760 90575760 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 4 32 65 0 ENST00000551025.1:n.4188C>T *1396* ENST00000551025 0 -CASZ1 UCSF GRCh37 1 10713516 10713516 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 6 12 0 ENST00000377022.3:c.2598C>T p.Ile866= p.I866= ENST00000377022 NM_001079843.2 866 atC/atT 0 -CATSPER2 UCSF GRCh37 15 43931847 43931847 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 11 105 0 ENST00000321596.5:c.711C>T p.Ala237= p.A237= ENST00000321596 237 gcC/gcT 0 -CBL UCSF GRCh37 11 119167732 119167732 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 39 30 42 0 ENST00000264033.4:c.2141C>T p.Ser714Phe p.S714F ENST00000264033 NM_005188.3 714 tCc/tTc 0 -CBLL1 UCSF GRCh37 7 107389382 107389382 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 131 23 91 0 ENST00000440859.3:c.71G>A p.Arg24Lys p.R24K ENST00000440859 NM_024814.2 24 aGa/aAa 0 -CBS UCSF GRCh37 21 44483181 44483181 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 14 17 0 ENST00000398165.3:c.836G>A p.Gly279Glu p.G279E ENST00000398165 NM_000071.2 279 gGg/gAg 0 -CBX1 UCSF GRCh37 17 46154300 46154300 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 48 79 0 ENST00000393408.3:c.67G>A p.Val23Met p.V23M ENST00000393408 NM_006807.4 23 Gtg/Atg 0 -CBX1 UCSF GRCh37 17 46153494 46153494 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 25 39 0 ENST00000393408.3:c.187C>T p.Leu63Phe p.L63F ENST00000393408 NM_006807.4 63 Ctc/Ttc 0 -CC2D1A UCSF GRCh37 19 14038004 14038004 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 8 21 0 ENST00000318003.7:c.2242G>A p.Asp748Asn p.D748N ENST00000318003 NM_017721.4 748 Gac/Aac 0 -CC2D1A UCSF GRCh37 19 14037861 14037861 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 12 24 0 ENST00000318003.7:c.2196G>A p.Lys732= p.K732= ENST00000318003 NM_017721.4 732 aaG/aaA 0 -CC2D2A UCSF GRCh37 4 15565134 15565134 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 7 41 0 ENST00000424120.1:c.3171G>A p.Lys1057= p.K1057= ENST00000424120 1057 aaG/aaA 0 -CCDC108 UCSF GRCh37 2 219896288 219896288 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 25 54 0 ENST00000341552.5:c.738C>T p.Cys246= p.C246= ENST00000341552 NM_194302.3 246 tgC/tgT 0 -CCDC116 UCSF GRCh37 22 21990936 21990936 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 24 31 0 ENST00000292779.3:c.1419G>A p.Arg473= p.R473= ENST00000292779 NM_152612.2 473 agG/agA 0 -CCDC135 UCSF GRCh37 16 57734080 57734080 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 41 56 0 ENST00000360716.3:c.402G>A p.Arg134= p.R134= ENST00000360716 134 cgG/cgA 0 -CCDC165 UCSF GRCh37 18 8825043 8825043 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 5 11 0 ENST00000359865.3:c.3535C>T p.Leu1179= p.L1179= ENST00000359865 NM_015210.3 1179 Ctg/Ttg 0 -CCDC17 UCSF GRCh37 1 46087995 46087995 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 5 32 0 ENST00000528266.1:c.885G>A p.Glu295= p.E295= ENST00000528266 295 gaG/gaA 0 -CCDC82 UCSF GRCh37 11 96117446 96117446 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 150 30 134 0 ENST00000278520.5:c.466G>A p.Glu156Lys p.E156K ENST00000278520 156 Gag/Aag 0 -CCDC93 UCSF GRCh37 2 118766140 118766140 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 47 147 0 ENST00000376300.2:c.137G>A p.Gly46Asp p.G46D ENST00000376300 NM_019044.4 46 gGc/gAc 0 -CCHCR1 UCSF GRCh37 6 31118537 31118537 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 127 50 74 0 ENST00000396268.3:c.1066G>A p.Glu356Lys p.E356K ENST00000396268 NM_001105563.1 356 Gaa/Aaa 0 -CCNA1 UCSF GRCh37 13 37014243 37014243 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 105 25 124 0 ENST00000255465.4:c.1021G>A p.Val341Ile p.V341I ENST00000255465 341 Gta/Ata 0 -CCNH UCSF GRCh37 5 86700720 86700720 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 34 95 0 ENST00000256897.4:c.630C>T p.Ser210= p.S210= ENST00000256897 NM_001239.3 210 tcC/tcT 0 -CCP110 UCSF GRCh37 16 19548215 19548215 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 40 128 0 ENST00000381396.5:c.1224G>A p.Met408Ile p.M408I ENST00000381396 NM_001199022.1 408 atG/atA 0 -CD163 UCSF GRCh37 12 7637880 7637880 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 14 77 0 ENST00000359156.4:c.2591G>A p.Cys864Tyr p.C864Y ENST00000359156 NM_004244.5 864 tGc/tAc 0 -CD180 UCSF GRCh37 5 66478865 66478865 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 11 90 0 ENST00000256447.4:c.1806G>A p.Ser602= p.S602= ENST00000256447 NM_005582.2 602 tcG/tcA 0 -CD1D UCSF GRCh37 1 158151967 158151967 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 152 19 164 0 ENST00000368171.3:c.474G>A p.Trp158Ter p.W158* ENST00000368171 NM_001766.3 158 tgG/tgA 0 -CD209 UCSF GRCh37 19 7810855 7810855 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 91 58 74 0 ENST00000315599.7:c.297G>A p.Glu99= p.E99= ENST00000315599 NM_021155.3 99 gaG/gaA 0 -CD82 UCSF GRCh37 11 44640606 44640606 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 14 15 0 ENST00000227155.4:c.734G>A p.Gly245Glu p.G245E ENST00000227155 NM_002231.3 245 gGg/gAg 0 -CDAN1 UCSF GRCh37 15 43020446 43020446 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 15 24 0 ENST00000356231.3:c.2824C>T p.Pro942Ser p.P942S ENST00000356231 NM_138477.2 942 Cct/Tct 0 -CDCP2 UCSF GRCh37 1 54605765 54605765 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 8 14 0 ENST00000371330.1:c.778G>A p.Val260Ile p.V260I ENST00000371330 NM_201546.3 260 Gta/Ata 0 -CDH10 UCSF GRCh37 5 24537507 24537507 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 134 21 165 0 ENST00000264463.4:c.508C>T p.Pro170Ser p.P170S ENST00000264463 NM_006727.3 170 Ccc/Tcc 0 -CDH16 UCSF GRCh37 16 66944378 66944378 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 4 31 0 ENST00000299752.4:c.1952C>T p.Pro651Leu p.P651L ENST00000299752 NM_001204744.1 651 cCc/cTc 0 -CDH7 UCSF GRCh37 18 63511133 63511133 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 83 20 110 0 ENST00000397968.2:c.1067G>A p.Gly356Asp p.G356D ENST00000397968 NM_004361.2 356 gGt/gAt 0 -CDK11B UCSF GRCh37 1 1572140 1572140 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 28 43 0 ENST00000407249.3:c.1830C>T p.Asp610= p.D610= ENST00000407249 610 gaC/gaT 0 -CDK13 UCSF GRCh37 7 40134284 40134284 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 56 48 87 0 ENST00000181839.4:c.4244G>A p.Gly1415Asp p.G1415D ENST00000181839 NM_031267.3 1415 gGt/gAt 0 -CDK13 UCSF GRCh37 7 40134455 40134455 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 25 63 0 ENST00000181839.4:c.4415G>A p.Gly1472Asp p.G1472D ENST00000181839 NM_031267.3 1472 gGc/gAc 0 -CDKL3 UCSF GRCh37 5 133702168 133702168 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 81 17 76 0 ENST00000265334.4:c.47G>A p.Gly16Glu p.G16E ENST00000265334 NM_001113575.1 16 gGa/gAa 0 -CDKL5 UCSF GRCh37 X 18606251 18606251 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 6 54 66 0 ENST00000379989.3:c.732C>T p.Phe244= p.F244= ENST00000379989 NM_001037343.1 244 ttC/ttT 0 -CDR2L UCSF GRCh37 17 72997562 72997562 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 3 13 0 ENST00000337231.5:c.319G>A p.Ala107Thr p.A107T ENST00000337231 NM_014603.2 107 Gct/Act 0 -CECR2 UCSF GRCh37 22 17978518 17978518 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 10 96 0 ENST00000262608.8:c.359G>A p.Gly120Glu p.G120E ENST00000262608 NM_031413.3 120 gGa/gAa 0 -CELF2 UCSF GRCh37 10 11312703 11312703 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 18 27 0 ENST00000450189.1:c.693G>A p.Gln231= p.Q231= ENST00000450189 NM_006561.3 231 caG/caA 0 -CELF4 UCSF GRCh37 18 34850818 34850818 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.0041 P01_Rec Untested WXS Illumina HiSeq 15 14 17 0 ENST00000420428.2:c.1012G>A p.Val338Met p.V338M ENST00000420428 NM_020180.3 338 Gtg/Atg 0 -CELF4 UCSF GRCh37 18 34854413 34854413 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 8 24 0 ENST00000420428.2:c.662C>T p.Ala221Val p.A221V ENST00000420428 NM_020180.3 221 gCc/gTc 0 -CELSR1 UCSF GRCh37 22 46807624 46807624 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 11 42 0 ENST00000262738.3:c.4644G>A p.Gly1548= p.G1548= ENST00000262738 NM_014246.1 1548 ggG/ggA 0 -CELSR1 UCSF GRCh37 22 46931463 46931463 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 22 32 0 ENST00000262738.3:c.1605G>A p.Lys535= p.K535= ENST00000262738 NM_014246.1 535 aaG/aaA 0 -CELSR2 UCSF GRCh37 1 109795561 109795561 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 30 41 0 ENST00000271332.3:c.2860G>A p.Ala954Thr p.A954T ENST00000271332 NM_001408.2 954 Gcc/Acc 0 -CELSR2 UCSF GRCh37 1 109805763 109805763 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 16 20 0 ENST00000271332.3:c.4709-1G>A p.X1570_splice ENST00000271332 NM_001408.2 0 -CELSR2 UCSF GRCh37 1 109807557 109807557 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 25 51 0 ENST00000271332.3:c.5532C>T p.Thr1844= p.T1844= ENST00000271332 NM_001408.2 1844 acC/acT 0 -CENPC1 UCSF GRCh37 4 68378153 68378153 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 92 21 158 0 ENST00000273853.6:c.1579C>T p.Pro527Ser p.P527S ENST00000273853 NM_001812.2 527 Cca/Tca 0 -CENPJ UCSF GRCh37 13 25457353 25457353 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 76 36 131 0 ENST00000381884.4:c.3979G>A p.Asp1327Asn p.D1327N ENST00000381884 NM_018451.4 1327 Gac/Aac 0 -CEP104 UCSF GRCh37 1 3740108 3740108 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 31 69 0 ENST00000378230.3:c.2383C>T p.Leu795= p.L795= ENST00000378230 NM_014704.3 795 Ctg/Ttg 0 -CEP112 UCSF GRCh37 17 63898345 63898345 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 23 79 0 ENST00000392769.2:c.2088C>T p.Asn696= p.N696= ENST00000392769 NM_145036.3 696 aaC/aaT 0 -CEP95 UCSF GRCh37 17 62504709 62504709 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 153 24 145 0 ENST00000556440.2:c.20-1G>A p.X7_splice ENST00000556440 NM_138363.1 0 -CES2 UCSF GRCh37 16 66975428 66975428 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 7 32 0 ENST00000317091.4:c.1127G>A p.Gly376Glu p.G376E ENST00000317091 NM_003869.5 376 gGa/gAa 0 -CES3 UCSF GRCh37 16 66997748 66997748 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 4 14 0 ENST00000303334.4:c.470C>T p.Ala157Val p.A157V ENST00000303334 NM_024922.5 157 gCc/gTc 0 -CES3 UCSF GRCh37 16 66997711 66997711 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 11 24 0 ENST00000303334.4:c.433G>A p.Val145Ile p.V145I ENST00000303334 NM_024922.5 145 Gta/Ata 0 -CES3 UCSF GRCh37 16 67006758 67006758 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 24 56 0 ENST00000303334.4:c.1522G>A p.Asp508Asn p.D508N ENST00000303334 NM_024922.5 508 Gac/Aac 0 -CETN1 UCSF GRCh37 18 580808 580808 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 84 11 30 0 ENST00000327228.3:c.400G>A p.Gly134Arg p.G134R ENST00000327228 NM_004066.1 134 Ggg/Agg 0 -CFDP1 UCSF GRCh37 16 75338931 75338931 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 88 46 144 0 ENST00000283882.3:c.800G>A p.Gly267Glu p.G267E ENST00000283882 NM_006324.2 267 gGg/gAg 0 -CFH UCSF GRCh37 1 196695721 196695721 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 26 106 0 ENST00000367429.4:c.1995G>A p.Met665Ile p.M665I ENST00000367429 NM_000186.3 665 atG/atA 0 -CHAD UCSF GRCh37 17 48545744 48545744 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 3 20 0 ENST00000508540.1:c.431C>T p.Ser144Phe p.S144F ENST00000508540 NM_001267.2 144 tCc/tTc 0 -CHD3 UCSF GRCh37 17 7798765 7798765 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P01_Rec Untested WXS Illumina HiSeq 17 0 ENST00000380358.4:c.1795delC p.Arg599ValfsTer16 p.R599Vfs*16 ENST00000380358 NM_001005271.2 597 Ccc/cc 0 -CHI3L1 UCSF GRCh37 1 203154428 203154428 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 8 32 0 ENST00000255409.3:c.141C>T p.Asp47= p.D47= ENST00000255409 NM_001276.2 47 gaC/gaT 0 -CHIA UCSF GRCh37 1 111863037 111863037 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 5 42 0 ENST00000369740.1:c.1380C>T p.Cys460= p.C460= ENST00000369740 NM_001258001.1 460 tgC/tgT 0 -CHST4 UCSF GRCh37 16 71570829 71570829 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 17 41 0 ENST00000338482.5:c.249G>A p.Lys83= p.K83= ENST00000338482 83 aaG/aaA 0 -CHST5 UCSF GRCh37 16 75563991 75563991 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 9 19 0 ENST00000336257.3:c.292G>A p.Val98Met p.V98M ENST00000336257 NM_024533.4 98 Gtg/Atg 0 -CIITA UCSF GRCh37 16 11000510 11000510 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 7 10 0 ENST00000324288.8:c.1161G>A p.Trp387Ter p.W387* ENST00000324288 NM_000246.3 387 tgG/tgA 0 -CKAP5 UCSF GRCh37 11 46772992 46772992 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 51 84 0 ENST00000529230.1:c.5226C>T p.Val1742= p.V1742= ENST00000529230 1742 gtC/gtT 0 -CKM UCSF GRCh37 19 45821138 45821138 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 3 12 25 0 ENST00000221476.3:c.293G>A p.Gly98Glu p.G98E ENST00000221476 NM_001824.4 98 gGg/gAg 0 -CLASP1 UCSF GRCh37 2 122125250 122125250 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 60 32 63 0 ENST00000263710.4:c.3800A>G p.Tyr1267Cys p.Y1267C ENST00000263710 NM_015282.2 1267 tAc/tGc 0 -CLCN6 UCSF GRCh37 1 11888662 11888662 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 13 67 0 ENST00000346436.6:c.1102C>T p.Pro368Ser p.P368S ENST00000346436 NM_001286.3 368 Ccg/Tcg 0 -CLCN7 UCSF GRCh37 16 1511666 1511666 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 5 9 0 ENST00000382745.4:c.223C>T p.Pro75Ser p.P75S ENST00000382745 NM_001287.5 75 Cct/Tct 0 -CLCNKB UCSF GRCh37 1 16377381 16377381 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 7 9 16 0 ENST00000375679.4:c.1065G>A p.Lys355= p.K355= ENST00000375679 NM_000085.4 355 aaG/aaA 0 -CLDN12 UCSF GRCh37 7 90042263 90042263 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 95 29 65 0 ENST00000535571.1:c.273C>T p.Pro91= p.P91= ENST00000535571 NM_001185072.2 91 ccC/ccT 0 -CLEC16A UCSF GRCh37 16 11272435 11272435 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 8 20 0 ENST00000409790.1:c.3050G>A p.Ser1017Asn p.S1017N ENST00000409790 NM_015226.2 1017 aGc/aAc 0 -CLEC4M UCSF GRCh37 19 7831562 7831562 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 18 29 0 ENST00000327325.5:c.805C>T p.Pro269Ser p.P269S ENST00000327325 NM_001144909.1 269 Ccc/Tcc 0 -CLMN UCSF GRCh37 14 95669764 95669764 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 25 53 0 ENST00000298912.4:c.1922G>A p.Gly641Asp p.G641D ENST00000298912 NM_024734.3 641 gGc/gAc 0 -CLN6 UCSF GRCh37 15 68500543 68500543 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 14 26 0 ENST00000249806.5:c.871C>T p.Pro291Ser p.P291S ENST00000249806 NM_017882.2 291 Ccg/Tcg 0 -CLN8 UCSF GRCh37 8 1719420 1719420 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 4 32 0 ENST00000331222.4:c.200C>T p.Ala67Val p.A67V ENST00000331222 NM_018941.3 67 gCg/gTg 0 -CLNK UCSF GRCh37 4 10566344 10566344 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 64 62 100 0 ENST00000226951.6:c.350C>T p.Ser117Phe p.S117F ENST00000226951 NM_052964.2 117 tCt/tTt 0 -CLTCL1 UCSF GRCh37 22 19187248 19187248 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 11 49 0 ENST00000263200.10:c.3870C>T p.Tyr1290= p.Y1290= ENST00000263200 NM_007098.3 1290 taC/taT 0 -CMYA5 UCSF GRCh37 5 79034707 79034707 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 105 35 98 0 ENST00000446378.2:c.10119C>T p.Val3373= p.V3373= ENST00000446378 NM_153610.3 3373 gtC/gtT 0 -CNGA3 UCSF GRCh37 2 99008330 99008330 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 8 24 0 ENST00000393504.1:c.570C>T p.Ala190= p.A190= ENST00000393504 NM_001298.2 190 gcC/gcT 0 -CNTD1 UCSF GRCh37 17 40961508 40961508 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 26 43 0 ENST00000588408.1:c.948C>T p.His316= p.H316= ENST00000588408 NM_173478.2 316 caC/caT 0 -CNTNAP2 UCSF GRCh37 7 148106483 148106483 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 27 51 0 ENST00000361727.3:c.3716C>T p.Ala1239Val p.A1239V ENST00000361727 NM_014141.5 1239 gCc/gTc 0 -CNTNAP5 UCSF GRCh37 2 125367388 125367388 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 95 17 69 0 ENST00000431078.1:c.1764G>A p.Glu588= p.E588= ENST00000431078 NM_130773.3 588 gaG/gaA 0 -COASY UCSF GRCh37 17 40715185 40715185 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 13 29 0 ENST00000590958.1:c.632G>A p.Gly211Glu p.G211E ENST00000590958 211 gGg/gAg 0 -COASY UCSF GRCh37 17 40717701 40717701 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 3 19 0 ENST00000590958.1:c.1597G>A p.Asp533Asn p.D533N ENST00000590958 533 Gat/Aat 0 -COG1 UCSF GRCh37 17 71193510 71193510 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 7 48 0 ENST00000299886.4:c.888G>A p.Glu296= p.E296= ENST00000299886 NM_018714.2 296 gaG/gaA 0 -COG5 UCSF GRCh37 7 107167779 107167779 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 10 25 0 ENST00000297135.3:c.534G>A p.Arg178= p.R178= ENST00000297135 NM_006348.3 178 agG/agA 0 -COL10A1 UCSF GRCh37 6 116442681 116442681 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 12 62 0 ENST00000327673.4:c.598G>A p.Gly200Ser p.G200S ENST00000327673 200 Ggt/Agt 0 -COL11A1 UCSF GRCh37 1 103412473 103412473 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 14 4 18 0 ENST00000370096.3:c.3208C>T p.Pro1070Ser p.P1070S ENST00000370096 NM_001854.3 1070 Cca/Tca 0 -COL11A1 UCSF GRCh37 1 103354311 103354311 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 38 78 0 ENST00000370096.3:c.4522C>T p.Pro1508Ser p.P1508S ENST00000370096 NM_001854.3 1508 Cct/Tct 0 -COL17A1 UCSF GRCh37 10 105795079 105795079 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 3 8 0 ENST00000353479.5:c.3561G>A p.Gly1187= p.G1187= ENST00000353479 NM_000494.3 1187 ggG/ggA 0 -COL19A1 UCSF GRCh37 6 70639353 70639353 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 7 18 64 0 ENST00000322773.4:c.427G>A p.Glu143Lys p.E143K ENST00000322773 NM_001858.4 143 Gaa/Aaa 0 -COL25A1 UCSF GRCh37 4 109753579 109753579 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 10 54 0 ENST00000399132.1:c.1667G>A p.Gly556Asp p.G556D ENST00000399132 NM_198721.2 556 gGt/gAt 0 -COL27A1 UCSF GRCh37 9 116931127 116931127 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 120 38 99 0 ENST00000356083.3:c.1292G>A p.Gly431Glu p.G431E ENST00000356083 NM_032888.2 431 gGa/gAa 0 -COL27A1 UCSF GRCh37 9 117029826 117029826 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 7 14 0 ENST00000356083.3:c.3490G>A p.Ala1164Thr p.A1164T ENST00000356083 NM_032888.2 1164 Gcc/Acc 0 -COL4A1 UCSF GRCh37 13 110826345 110826345 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 15 30 0 ENST00000375820.4:c.3407G>A p.Gly1136Asp p.G1136D ENST00000375820 NM_001845.4 1136 gGt/gAt 0 -COL4A3 UCSF GRCh37 2 228134689 228134689 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 15 70 0 ENST00000396578.3:c.1568G>A p.Gly523Glu p.G523E ENST00000396578 NM_000091.4 523 gGa/gAa 0 -COL4A4 UCSF GRCh37 2 227979410 227979410 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 83 19 83 0 ENST00000396625.3:c.492C>T p.Gly164= p.G164= ENST00000396625 NM_000092.4 164 ggC/ggT 0 -COL4A6 UCSF GRCh37 X 107408677 107408677 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 14 23 0 ENST00000372216.4:c.3734C>T p.Ala1245Val p.A1245V ENST00000372216 NM_001847.2 1245 gCc/gTc 0 -COL5A1 UCSF GRCh37 9 137642402 137642402 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 8 25 0 ENST00000371817.3:c.1509C>T p.Arg503= p.R503= ENST00000371817 NM_001278074.1 503 cgC/cgT 0 -COL6A3 UCSF GRCh37 2 238253370 238253370 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 28 38 0 ENST00000295550.4:c.7291G>A p.Asp2431Asn p.D2431N ENST00000295550 NM_004369.3 2431 Gac/Aac 0 -COL6A3 UCSF GRCh37 2 238287287 238287287 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 11 52 0 ENST00000295550.4:c.2489C>T p.Ala830Val p.A830V ENST00000295550 NM_004369.3 830 gCt/gTt 0 -COPS2 UCSF GRCh37 15 49437259 49437259 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 40 44 93 0 ENST00000299259.6:c.71G>A p.Ser24Asn p.S24N ENST00000299259 24 aGt/aAt 0 -CORIN UCSF GRCh37 4 47605463 47605463 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 6 26 0 ENST00000273857.4:c.2763G>A p.Glu921= p.E921= ENST00000273857 NM_006587.3 921 gaG/gaA 0 -CPA2 UCSF GRCh37 7 129917712 129917712 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 5 19 0 ENST00000222481.4:c.743G>A p.Cys248Tyr p.C248Y ENST00000222481 NM_001869.2 248 tGt/tAt 0 -CPAMD8 UCSF GRCh37 19 17007002 17007002 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 3 9 0 ENST00000443236.1:c.5552G>A p.Gly1851Glu p.G1851E ENST00000443236 NM_015692.2 1851 gGg/gAg 0 -CPAMD8 UCSF GRCh37 19 17100452 17100452 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 7 23 0 ENST00000443236.1:c.1536+1G>A p.X512_splice ENST00000443236 NM_015692.2 0 -CPEB2 UCSF GRCh37 4 15009220 15009220 + intron_variant,non_coding_transcript_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 23 54 0 ENST00000502344.1:n.315-1026C>T *105* ENST00000502344 0 -CPEB4 UCSF GRCh37 5 173378942 173378942 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 32 122 0 ENST00000265085.5:c.1780+1G>A p.X594_splice ENST00000265085 NM_030627.2 0 -CPNE3 UCSF GRCh37 8 87558910 87558910 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 75 61 136 0 ENST00000521271.1:c.819+1G>A p.X273_splice ENST00000521271 NM_003909.3 0 -CPNE4 UCSF GRCh37 3 131624151 131624151 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 6 57 0 ENST00000512055.1:c.137C>T p.Pro46Leu p.P46L ENST00000512055 46 cCc/cTc 0 -CPSF3 UCSF GRCh37 2 9583672 9583672 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 179 20 171 0 ENST00000238112.3:c.1124C>T p.Thr375Ile p.T375I ENST00000238112 NM_016207.3 375 aCt/aTt 0 -CPSF6 UCSF GRCh37 12 69652471 69652471 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 39 51 0 ENST00000435070.2:c.796C>T p.Pro266Ser p.P266S ENST00000435070 NM_007007.2 266 Cct/Tct 0 -CPSF7 UCSF GRCh37 11 61183722 61183722 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 24 31 0 ENST00000340437.4:c.949C>T p.Pro317Ser p.P317S ENST00000340437 NM_024811.3 317 Cct/Tct 0 -CPT1A UCSF GRCh37 11 68574938 68574938 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 6 19 0 ENST00000265641.5:c.450G>A p.Trp150Ter p.W150* ENST00000265641 NM_001876.3 150 tgG/tgA 0 -CPT1B UCSF GRCh37 22 51011961 51011961 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 23 4 29 0 ENST00000360719.2:c.1154C>T p.Thr385Ile p.T385I ENST00000360719 NM_001145135.1 385 aCt/aTt 0 -CPT1B UCSF GRCh37 22 51012002 51012002 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 6 20 0 ENST00000360719.2:c.1113C>T p.Pro371= p.P371= ENST00000360719 NM_001145135.1 371 ccC/ccT 0 -CPT1B UCSF GRCh37 22 51010435 51010435 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 13 27 0 ENST00000360719.2:c.1575G>A p.Gln525= p.Q525= ENST00000360719 NM_001145135.1 525 caG/caA 0 -CR1 UCSF GRCh37 1 207741179 207741179 + synonymous_variant Silent SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 95 11 114 0 ENST00000367049.4:c.3963T>C p.Cys1321= p.C1321= ENST00000367049 NM_000651.4 1321 tgT/tgC 0 -CREB1 UCSF GRCh37 2 208439999 208439999 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 76 53 88 0 ENST00000432329.2:c.551C>T p.Ala184Val p.A184V ENST00000432329 NM_134442.3 184 gCc/gTc 0 -CREB3L2 UCSF GRCh37 7 137569748 137569748 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 16 53 0 ENST00000330387.6:c.1263C>T p.Ala421= p.A421= ENST00000330387 NM_194071.3 421 gcC/gcT 0 -CRIPAK UCSF GRCh37 4 1388759 1388759 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.037,snp132_rs112233131 P01_Rec Untested WXS Illumina HiSeq 65 10 26 1 ENST00000324803.4:c.460C>T p.Arg154Trp p.R154W ENST00000324803 NM_175918.3 154 Cgg/Tgg 0 -CRYZL1 UCSF GRCh37 21 34997057 34997057 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 36 96 0 ENST00000381554.3:c.76C>T p.Pro26Ser p.P26S ENST00000381554 NM_145858.2 26 Cct/Tct 0 -CSDE1 UCSF GRCh37 1 115261250 115261250 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 8 37 0 ENST00000438362.2:c.2471G>A p.Gly824Glu p.G824E ENST00000438362 NM_001242891.1 824 gGa/gAa 0 -CSRNP3 UCSF GRCh37 2 166514344 166514344 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 37 56 0 ENST00000314499.7:c.222C>T p.Tyr74= p.Y74= ENST00000314499 NM_001172173.1 74 taC/taT 0 -CST9 UCSF GRCh37 20 23586283 23586283 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 69 29 52 0 ENST00000376971.3:c.219C>T p.Val73= p.V73= ENST00000376971 NM_001008693.2 73 gtC/gtT 0 -CSTF2T UCSF GRCh37 10 53459172 53459172 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 42 92 0 ENST00000331173.4:c.138G>A p.Arg46= p.R46= ENST00000331173 NM_015235.2 46 cgG/cgA 0 -CTBP2 UCSF GRCh37 10 126683197 126683197 + missense_variant Missense_Mutation SNP T T C snp132_rs74341800 P01_Rec Untested WXS Illumina HiSeq 24 5 39 1 ENST00000309035.6:c.2241A>G p.Ile747Met p.I747M ENST00000309035 NM_022802.2 747 atA/atG 0 -CTC1 UCSF GRCh37 17 8138176 8138176 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 10 28 0 ENST00000315684.8:c.1508G>A p.Gly503Glu p.G503E ENST00000315684 NM_025099.5 503 gGa/gAa 0 -CTIF UCSF GRCh37 18 46284567 46284567 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 31 41 0 ENST00000382998.4:c.862G>A p.Asp288Asn p.D288N ENST00000382998 NM_001142397.1 288 Gac/Aac 0 -CTLA4 UCSF GRCh37 2 204732679 204732679 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 53 14 58 0 ENST00000302823.3:c.14G>A p.Gly5Glu p.G5E ENST00000302823 NM_005214.4 5 gGa/gAa 0 -CTNNAL1 UCSF GRCh37 9 111705105 111705105 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 91 46 75 0 ENST00000325551.4:c.2149G>A p.Glu717Lys p.E717K ENST00000325551 NM_003798.2 717 Gaa/Aaa 0 -CTNNAL1 UCSF GRCh37 9 111714757 111714757 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 8 59 0 ENST00000325551.4:c.1647G>A p.Leu549= p.L549= ENST00000325551 NM_003798.2 549 ctG/ctA 0 -CTNNB1 UCSF GRCh37 3 41279535 41279535 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 39 26 107 0 ENST00000349496.5:c.2105C>T p.Ala702Val p.A702V ENST00000349496 NM_001904.3 702 gCc/gTc 0 -CTNMT-ND1 UCSF GRCh37 11 57583390 57583390 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 10 21 0 ENST00000399050.4:c.2812G>A p.Asp938Asn p.D938N ENST00000399050 NM_001085458.1 938 Gac/Aac 0 -CTPS UCSF GRCh37 1 41450499 41450500 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 0 ENST00000372621.4:c.177dup p.Val60CysfsTer4 p.V60Cfs*4 ENST00000372621 NM_001905.2 58 gtt/gtTt 0 -CTR9 UCSF GRCh37 11 10785061 10785061 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 24 46 0 ENST00000361367.2:c.933G>A p.Gln311= p.Q311= ENST00000361367 NM_014633.3 311 caG/caA 0 -CTSL2 UCSF GRCh37 9 99797080 99797080 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 110 50 113 0 ENST00000259470.5:c.833G>A p.Gly278Asp p.G278D ENST00000259470 NM_001333.3 278 gGt/gAt 0 -CTTNBP2NL UCSF GRCh37 1 112999270 112999270 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 54 99 0 ENST00000271277.6:c.1156C>T p.Pro386Ser p.P386S ENST00000271277 NM_018704.2 386 Cca/Tca 0 -CUL4A UCSF GRCh37 13 113897333 113897333 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 48 71 0 ENST00000375440.4:c.1087C>T p.Gln363Ter p.Q363* ENST00000375440 NM_001008895.2 363 Caa/Taa 0 -CUL9 UCSF GRCh37 6 43156361 43156361 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 13 40 0 ENST00000252050.4:c.2088C>T p.Asn696= p.N696= ENST00000252050 NM_015089.2 696 aaC/aaT 0 -CXorf26 UCSF GRCh37 X 75395376 75395376 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 5 21 36 0 ENST00000373358.3:c.225C>T p.Phe75= p.F75= ENST00000373358 NM_016500.3 75 ttC/ttT 0 -CYB5RL UCSF GRCh37 1 54661173 54661173 + synonymous_variant,NMD_transcript_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 3 9 0 ENST00000311841.7:c.117C>T p.Asp39= p.D39= ENST00000311841 39 gaC/gaT 0 -CYLD UCSF GRCh37 16 50810182 50810182 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 19 48 0 ENST00000398568.2:c.1006G>A p.Ala336Thr p.A336T ENST00000398568 NM_001042412.1 336 Gct/Act 0 -CYP20A1 UCSF GRCh37 2 204137398 204137398 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 7 46 0 ENST00000356079.4:c.606G>A p.Trp202Ter p.W202* ENST00000356079 NM_177538.2 202 tgG/tgA 0 -CYP21A2 UCSF GRCh37 6 31974229 31974229 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 3 19 0 ENST00000342991.6:n.817G>A *273* ENST00000342991 0 -CYP26B1 UCSF GRCh37 2 72360198 72360198 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 6 19 0 ENST00000001146.2:c.1100C>T p.Pro367Leu p.P367L ENST00000001146 NM_019885.3 367 cCc/cTc 0 -CYP2A13 UCSF GRCh37 19 41594918 41594918 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 16 22 0 ENST00000330436.3:c.265G>A p.Glu89Lys p.E89K ENST00000330436 NM_000766.4 89 Gag/Aag 0 -CYP2C8 UCSF GRCh37 10 96802705 96802705 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 88 19 66 0 ENST00000371270.3:c.1091C>T p.Thr364Ile p.T364I ENST00000371270 NM_000770.3 364 aCc/aTc 0 -CYP2S1 UCSF GRCh37 19 41700576 41700576 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 10 33 0 ENST00000310054.4:c.305G>A p.Gly102Glu p.G102E ENST00000310054 NM_030622.6 102 gGa/gAa 0 -CYP3A43 UCSF GRCh37 7 99457614 99457614 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 17 82 0 ENST00000222382.5:c.1026+1G>A p.X342_splice ENST00000222382 0 -CYP4A11 UCSF GRCh37 1 47402439 47402439 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 5 27 0 ENST00000310638.4:c.407G>A p.Gly136Glu p.G136E ENST00000310638 NM_000778.3 136 gGg/gAg 0 -CYP4X1 UCSF GRCh37 1 47512236 47512236 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 12 47 0 ENST00000371901.3:c.1171C>T p.Pro391Ser p.P391S ENST00000371901 NM_178033.1 391 Cca/Tca 0 -DAGLB UCSF GRCh37 7 6472571 6472571 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 3 19 0 ENST00000297056.6:c.698G>A p.Ser233Asn p.S233N ENST00000297056 NM_139179.3 233 aGc/aAc 0 -DBH UCSF GRCh37 9 136509382 136509382 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 10 25 0 ENST00000393056.2:c.964C>T p.Pro322Ser p.P322S ENST00000393056 NM_000787.3 322 Cca/Tca 0 -DBH UCSF GRCh37 9 136522333 136522333 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 10 17 0 ENST00000393056.2:c.1704C>T p.Ser568= p.S568= ENST00000393056 NM_000787.3 568 tcC/tcT 0 -DCDC2B UCSF GRCh37 1 32674838 32674838 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 28 30 0 ENST00000409358.1:c.144G>A p.Gln48= p.Q48= ENST00000409358 NM_001099434.1 48 caG/caA 0 -DCDC5 UCSF GRCh37 11 30921143 30921143 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C G NOVEL P01_Rec Untested WXS Illumina HiSeq 133 19 142 0 ENST00000303697.4:c.772G>C p.Lys258Asn p.K258N ENST00000303697 258 aaG/aaC 0 -DCHS2 UCSF GRCh37 4 155237124 155237124 + missense_variant Missense_Mutation SNP G G T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 27 55 0 ENST00000357232.4:c.3671C>A p.Thr1224Asn p.T1224N ENST00000357232 NM_017639.3 1224 aCc/aAc 0 -DDB1 UCSF GRCh37 11 61076544 61076544 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 25 47 0 ENST00000301764.7:c.2572C>T p.Leu858= p.L858= ENST00000301764 NM_001923.4 858 Cta/Tta 0 -DDHD1 UCSF GRCh37 14 53570506 53570506 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 22 75 0 ENST00000323669.5:c.907G>A p.Glu303Lys p.E303K ENST00000323669 NM_001160148.1 303 Gaa/Aaa 0 -DDR1 UCSF GRCh37 6 30864491 30864491 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 23 43 25 0 ENST00000376575.3:c.1718A>G p.Asp573Gly p.D573G ENST00000376575 573 gAc/gGc 0 -DDX11 UCSF GRCh37 12 31256558 31256558 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 13 27 0 ENST00000407793.2:c.2579G>A p.Gly860Glu p.G860E ENST00000407793 NM_030653.3 860 gGa/gAa 0 -DDX3X UCSF GRCh37 X 41203567 41203567 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 11 36 0 ENST00000399959.2:c.940G>A p.Glu314Lys p.E314K ENST00000399959 NM_001193417.1 314 Gaa/Aaa 0 -DDX50 UCSF GRCh37 10 70666491 70666491 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 16 68 0 ENST00000373585.3:c.112C>T p.His38Tyr p.H38Y ENST00000373585 NM_024045.1 38 Cat/Tat 0 -DDX56 UCSF GRCh37 7 44610391 44610391 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 36 45 0 ENST00000258772.5:c.976G>A p.Gly326Ser p.G326S ENST00000258772 NM_001257189.1 326 Ggc/Agc 0 -DENND2A UCSF GRCh37 7 140301329 140301329 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 34 71 0 ENST00000275884.6:c.869G>A p.Arg290Lys p.R290K ENST00000275884 290 aGg/aAg 0 -DENND2A UCSF GRCh37 7 140268573 140268573 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 23 36 0 ENST00000275884.6:c.1581G>A p.Glu527= p.E527= ENST00000275884 527 gaG/gaA 0 -DENND2C UCSF GRCh37 1 115161059 115161059 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 41 135 0 ENST00000393274.1:c.1272G>A p.Lys424= p.K424= ENST00000393274 NM_001256404.1 424 aaG/aaA 0 -DENMT-ND3 UCSF GRCh37 8 142176467 142176467 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 23 40 0 ENST00000262585.2:c.1492G>A p.Gly498Ser p.G498S ENST00000262585 NM_014957.2 498 Ggc/Agc 0 -DFNB31 UCSF GRCh37 9 117185744 117185744 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 13 20 0 ENST00000362057.3:c.1476C>T p.Asp492= p.D492= ENST00000362057 NM_001173425.1 492 gaC/gaT 0 -DGKH UCSF GRCh37 13 42799463 42799463 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 98 15 101 0 ENST00000337343.4:c.3574-3772G>A *1192* ENST00000337343 NM_178009.3 0 -DHCR24 UCSF GRCh37 1 55337053 55337053 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 10 19 0 ENST00000371269.3:c.846G>A p.Gly282= p.G282= ENST00000371269 NM_014762.3 282 ggG/ggA 0 -DIEXF UCSF GRCh37 1 210010322 210010322 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 33 77 0 ENST00000491415.2:c.828C>T p.Thr276= p.T276= ENST00000491415 NM_014388.6 276 acC/acT 0 -DIP2C UCSF GRCh37 10 410500 410500 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 3 20 0 ENST00000280886.6:c.2291G>A p.Gly764Glu p.G764E ENST00000280886 NM_014974.2 764 gGg/gAg 0 -DLAT UCSF GRCh37 11 111930758 111930758 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 43 162 0 ENST00000280346.6:c.1646G>A p.Arg549Lys p.R549K ENST00000280346 NM_001931.4 549 aGa/aAa 0 -DLC1 UCSF GRCh37 8 12957987 12957987 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 32 6 26 0 ENST00000276297.4:c.1859C>T p.Ser620Phe p.S620F ENST00000276297 NM_182643.2 620 tCc/tTc 0 -DLC1 UCSF GRCh37 8 12950182 12950182 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 20 13 37 0 ENST00000276297.4:c.3679G>A p.Val1227Met p.V1227M ENST00000276297 NM_182643.2 1227 Gtg/Atg 0 -DLG3 UCSF GRCh37 X 69720346 69720346 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 4 14 0 ENST00000374360.3:c.2171C>T p.Ser724Phe p.S724F ENST00000374360 NM_021120.3 724 tCc/tTc 0 -DLG4 UCSF GRCh37 17 7100192 7100192 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 4 15 0 ENST00000399510.2:c.1096C>T p.Leu366= p.L366= ENST00000399510 NM_001365.3 366 Ctg/Ttg 0 -DLGAP1 UCSF GRCh37 18 3534464 3534464 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 6 39 0 ENST00000315677.3:c.2207C>T p.Thr736Ile p.T736I ENST00000315677 NM_004746.3 736 aCc/aTc 0 -DMD UCSF GRCh37 X 31697623 31697623 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 5 45 0 ENST00000357033.4:c.7741G>A p.Asp2581Asn p.D2581N ENST00000357033 NM_004007.2 2581 Gat/Aat 0 -DMD UCSF GRCh37 X 31893450 31893450 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 3 32 0 ENST00000357033.4:c.6953C>T p.Ala2318Val p.A2318V ENST00000357033 NM_004007.2 2318 gCt/gTt 0 -DMD UCSF GRCh37 X 32407765 32407765 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 33 59 0 ENST00000357033.4:c.4371G>A p.Lys1457= p.K1457= ENST00000357033 NM_004007.2 1457 aaG/aaA 0 -DMGDH UCSF GRCh37 5 78347287 78347287 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 27 61 0 ENST00000255189.3:c.568G>A p.Asp190Asn p.D190N ENST00000255189 NM_013391.3 190 Gat/Aat 0 -DMGDH UCSF GRCh37 5 78325822 78325822 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 18 57 0 ENST00000255189.3:c.1719C>T p.Pro573= p.P573= ENST00000255189 NM_013391.3 573 ccC/ccT 0 -DMRTC2 UCSF GRCh37 19 42355670 42355670 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 11 45 0 ENST00000269945.3:c.1010G>A p.Gly337Glu p.G337E ENST00000269945 NM_001040283.1 337 gGa/gAa 0 -DMXL1 UCSF GRCh37 5 118484522 118484522 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 105 18 104 0 ENST00000311085.8:c.3000G>A p.Trp1000Ter p.W1000* ENST00000311085 NM_005509.4 1000 tgG/tgA 0 -DNA2 UCSF GRCh37 10 70204774 70204774 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 101 25 127 0 ENST00000399180.2:c.1382G>A p.Arg461Lys p.R461K ENST00000399180 461 aGa/aAa 0 -DNAH1 UCSF GRCh37 3 52400863 52400863 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 7 31 0 ENST00000420323.2:c.5725G>A p.Gly1909Ser p.G1909S ENST00000420323 NM_015512.4 1909 Ggc/Agc 0 -DNAH11 UCSF GRCh37 7 21609755 21609755 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 136 32 105 0 ENST00000328843.6:c.1263G>A p.Gln421= p.Q421= ENST00000328843 421 caG/caA 0 -DNAH12 UCSF GRCh37 3 57458321 57458321 + upstream_gene_variant 5'Flank SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 39 93 0 ENST00000459308 0 -DNAH17 UCSF GRCh37 17 76421618 76421618 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 9 5 24 0 ENST00000389840.5:c.13019C>T p.Pro4340Leu p.P4340L ENST00000389840 4340 cCc/cTc 0 -DNAH3 UCSF GRCh37 16 21132064 21132064 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 8 73 0 ENST00000261383.3:c.1696G>A p.Ala566Thr p.A566T ENST00000261383 NM_017539.1 566 Gca/Aca 0 -DNAH5 UCSF GRCh37 5 13792290 13792290 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 10 89 0 ENST00000265104.4:c.8261G>A p.Gly2754Asp p.G2754D ENST00000265104 NM_001369.2 2754 gGt/gAt 0 -DNAH8 UCSF GRCh37 6 38994438 38994438 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 19 38 0 ENST00000359357.3:c.13180C>T p.Pro4394Ser p.P4394S ENST00000359357 4394 Cct/Tct 0 -DNAH9 UCSF GRCh37 17 11550496 11550496 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 9 57 0 ENST00000262442.4:c.2078C>T p.Thr693Ile p.T693I ENST00000262442 NM_001372.3 693 aCt/aTt 0 -DNAI1 UCSF GRCh37 9 34512186 34512186 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 4 36 0 ENST00000242317.4:c.1391C>T p.Thr464Ile p.T464I ENST00000242317 NM_012144.3 464 aCt/aTt 0 -DNAJA2 UCSF GRCh37 16 47005263 47005263 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 21 72 0 ENST00000317089.5:c.360C>T p.Leu120= p.L120= ENST00000317089 NM_005880.3 120 ctC/ctT 0 -DNAJC10 UCSF GRCh37 2 183627480 183627480 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 39 86 0 ENST00000264065.7:c.2217G>A p.Gly739= p.G739= ENST00000264065 NM_018981.2 739 ggG/ggA 0 -DNAJC12 UCSF GRCh37 10 69565489 69565489 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 56 152 0 ENST00000225171.2:c.354G>A p.Lys118= p.K118= ENST00000225171 NM_021800.2 118 aaG/aaA 0 -DNAJC14 UCSF GRCh37 12 56216254 56216254 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 56 43 84 0 ENST00000357606.3:c.1801G>A p.Ala601Thr p.A601T ENST00000357606 601 Gct/Act 0 -DNAJC2 UCSF GRCh37 7 102982259 102982259 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 124 22 133 0 ENST00000379263.3:c.207G>A p.Gln69= p.Q69= ENST00000379263 NM_014377.1 69 caG/caA 0 -DNAJC4 UCSF GRCh37 11 64000195 64000195 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 19 35 0 ENST00000321685.3:c.385G>A p.Ala129Thr p.A129T ENST00000321685 NM_005528.3 129 Gca/Aca 0 -DNAJC6 UCSF GRCh37 1 65877089 65877089 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 22 62 0 ENST00000371069.4:c.2791C>T p.Leu931= p.L931= ENST00000371069 NM_001256864.1 931 Ctg/Ttg 0 -DNHD1 UCSF GRCh37 11 6591862 6591862 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 4 23 0 ENST00000254579.6:c.13120G>A p.Asp4374Asn p.D4374N ENST00000254579 NM_144666.2 4374 Gat/Aat 0 -DNM1 UCSF GRCh37 9 130984532 130984532 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 13 30 0 ENST00000372923.3:c.906C>T p.Ser302= p.S302= ENST00000372923 NM_004408.2 302 agC/agT 0 -DNMT3B UCSF GRCh37 20 31386392 31386392 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 13 31 0 ENST00000328111.2:c.1617G>A p.Arg539= p.R539= ENST00000328111 NM_006892.3 539 cgG/cgA 0 -DOCK10 UCSF GRCh37 2 225639660 225639660 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 20 35 0 ENST00000258390.7:c.5975G>A p.Gly1992Glu p.G1992E ENST00000258390 NM_014689.2 1992 gGg/gAg 0 -DOCK3 UCSF GRCh37 3 51315054 51315054 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 7 17 30 0 ENST00000266037.9:c.2692G>A p.Glu898Lys p.E898K ENST00000266037 NM_004947.4 898 Gag/Aag 0 -DOCK4 UCSF GRCh37 7 111584879 111584879 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 56 94 0 ENST00000437633.1:c.831C>T p.His277= p.H277= ENST00000437633 NM_014705.3 277 caC/caT 0 -DOCK5 UCSF GRCh37 8 25257466 25257466 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 70 33 136 0 ENST00000276440.7:c.4744G>A p.Asp1582Asn p.D1582N ENST00000276440 NM_024940.6 1582 Gac/Aac 0 -DOCK9 UCSF GRCh37 13 99461624 99461624 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 7 65 0 ENST00000376460.1:c.5349G>A p.Arg1783= p.R1783= ENST00000376460 NM_015296.2 1783 cgG/cgA 0 -DOPEY2 UCSF GRCh37 21 37586854 37586854 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 66 50 116 0 ENST00000399151.3:c.1129G>A p.Gly377Arg p.G377R ENST00000399151 NM_005128.2 377 Ggg/Agg 0 -DPY19L4 UCSF GRCh37 8 95792605 95792605 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 28 90 0 ENST00000414645.2:c.1594G>A p.Ala532Thr p.A532T ENST00000414645 NM_181787.2 532 Gcc/Acc 0 -DPY19L4 UCSF GRCh37 8 95801990 95801990 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 53 148 0 ENST00000414645.2:c.2024G>A p.Gly675Asp p.G675D ENST00000414645 NM_181787.2 675 gGt/gAt 0 -DPY19L4 UCSF GRCh37 8 95800133 95800133 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 13 64 0 ENST00000414645.2:c.1860C>T p.Ile620= p.I620= ENST00000414645 NM_181787.2 620 atC/atT 0 -DR1 UCSF GRCh37 1 93819517 93819517 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 32 60 0 ENST00000370272.4:c.273G>A p.Leu91= p.L91= ENST00000370272 NM_001938.2 91 ttG/ttA 0 -DSCAML1 UCSF GRCh37 11 117352816 117352816 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 3 12 0 ENST00000321322.6:c.2601G>A p.Glu867= p.E867= ENST00000321322 NM_020693.2 867 gaG/gaA 0 -DSE UCSF GRCh37 6 116757372 116757372 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 6 39 0 ENST00000331677.3:c.1741G>A p.Glu581Lys p.E581K ENST00000331677 581 Gag/Aag 0 -DSG2 UCSF GRCh37 18 29116190 29116190 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 15 97 0 ENST00000261590.8:c.1449C>T p.Gly483= p.G483= ENST00000261590 NM_001943.3 483 ggC/ggT 0 -DSPP UCSF GRCh37 4 88533898 88533898 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 20 81 0 ENST00000399271.1:c.560C>T p.Ala187Val p.A187V ENST00000399271 NM_014208.3 187 gCt/gTt 0 -DST UCSF GRCh37 6 56382342 56382342 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 115 16 114 0 ENST00000244364.6:c.10337G>A p.Arg3446Lys p.R3446K ENST00000244364 NM_015548.4 3446 aGg/aAg 0 -DTNBP1 UCSF GRCh37 6 15523293 15523293 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 132 15 52 0 ENST00000344537.5:c.969G>A p.Glu323= p.E323= ENST00000344537 NM_001271667.1 323 gaG/gaA 0 -DUOX1 UCSF GRCh37 15 45431639 45431639 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 4 31 0 ENST00000321429.4:c.1231C>T p.Pro411Ser p.P411S ENST00000321429 NM_017434.3 411 Cca/Tca 0 -DUOX1 UCSF GRCh37 15 45454105 45454105 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 9 13 0 ENST00000321429.4:c.4026G>A p.Trp1342Ter p.W1342* ENST00000321429 NM_017434.3 1342 tgG/tgA 0 -DUOX1 UCSF GRCh37 15 45439634 45439634 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 6 8 12 0 ENST00000321429.4:c.2326C>T p.Leu776= p.L776= ENST00000321429 NM_017434.3 776 Ctg/Ttg 0 -DUOX2 UCSF GRCh37 15 45386390 45386390 + synonymous_variant Silent SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 27 11 41 0 ENST00000603300.1:c.4605G>A p.Arg1535= p.R1535= ENST00000603300 NM_014080.4 1535 agG/agA 0 -DUSP15 UCSF GRCh37 20 30452768 30452768 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 7 32 0 ENST00000339738.5:c.176C>T p.Pro59Leu p.P59L ENST00000339738 NM_080611.3 59 cCt/cTt 0 -DUSP16 UCSF GRCh37 12 12630433 12630433 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 56 33 45 0 ENST00000228862.2:c.1332G>A p.Gln444= p.Q444= ENST00000228862 NM_030640.2 444 caG/caA 0 -DYNC1I2 UCSF GRCh37 2 172604285 172604285 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 79 42 137 0 ENST00000397119.3:c.1804-1G>A p.X602_splice ENST00000397119 NM_001378.2 0 -DYNC2H1 UCSF GRCh37 11 103052580 103052580 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 26 3 32 0 ENST00000398093.3:c.6442T>C p.Tyr2148His p.Y2148H ENST00000398093 2148 Tat/Cat 0 -DYRK1A UCSF GRCh37 21 38884787 38884787 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 29 104 0 ENST00000398960.2:c.2245C>T p.Pro749Ser p.P749S ENST00000398960 NM_001396.3 749 Ccc/Tcc 0 -DYRK1A UCSF GRCh37 21 38845044 38845044 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 37 87 0 ENST00000398960.2:c.69C>T p.Phe23= p.F23= ENST00000398960 NM_001396.3 23 ttC/ttT 0 -E2F3 UCSF GRCh37 6 20481556 20481556 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 193 26 134 0 ENST00000346618.3:c.625G>A p.Glu209Lys p.E209K ENST00000346618 NM_001949.4 209 Gaa/Aaa 0 -EBP UCSF GRCh37 X 48385564 48385564 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 9 29 0 ENST00000495186.1:c.360C>T p.Cys120= p.C120= ENST00000495186 NM_006579.2 120 tgC/tgT 0 -ECE1 UCSF GRCh37 1 21573749 21573749 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 8 28 0 ENST00000374893.6:c.1128G>A p.Glu376= p.E376= ENST00000374893 NM_001397.2 376 gaG/gaA 0 -EDIL3 UCSF GRCh37 5 83362330 83362330 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 11 82 0 ENST00000296591.5:c.747C>T p.Ala249= p.A249= ENST00000296591 NM_005711.4 249 gcC/gcT 0 -EFEMP2 UCSF GRCh37 11 65638811 65638811 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 15 32 0 ENST00000307998.6:c.184C>T p.Pro62Ser p.P62S ENST00000307998 NM_016938.4 62 Cct/Tct 0 -EHF UCSF GRCh37 11 34664174 34664174 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 5 26 0 ENST00000531794.1:c.64-1G>A p.X22_splice ENST00000531794 NM_001206616.1 0 -EIF2B5 UCSF GRCh37 3 183858423 183858423 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 6 52 0 ENST00000273783.3:c.1061G>A p.Ser354Asn p.S354N ENST00000273783 NM_003907.2 354 aGc/aAc 0 -EIF4ENIF1 UCSF GRCh37 22 31850321 31850321 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 11 34 0 ENST00000397525.1:c.1321G>A p.Gly441Ser p.G441S ENST00000397525 NM_001164501.1 441 Ggt/Agt 0 -EIF4G1 UCSF GRCh37 3 184045073 184045073 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 4 13 19 0 ENST00000424196.1:c.3519G>A p.Arg1173= p.R1173= ENST00000424196 1173 cgG/cgA 0 -ELANE UCSF GRCh37 19 855960 855960 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 14 19 0 ENST00000590230.1:c.600G>A p.Gly200= p.G200= ENST00000590230 200 ggG/ggA 0 -ELL UCSF GRCh37 19 18572433 18572433 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 3 18 0 ENST00000262809.4:c.699C>T p.Gly233= p.G233= ENST00000262809 NM_006532.3 233 ggC/ggT 0 -ELN UCSF GRCh37 7 73450886 73450886 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 22 34 0 ENST00000252034.7:c.135G>A p.Gly45= p.G45= ENST00000252034 NM_000501.3 45 ggG/ggA 0 -EML3 UCSF GRCh37 11 62378778 62378778 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 12 8 0 ENST00000394773.2:c.233C>T p.Pro78Leu p.P78L ENST00000394773 NM_153265.2 78 cCt/cTt 0 -EML5 UCSF GRCh37 14 89083072 89083072 + missense_variant,splice_region_variant Missense_Mutation SNP A A T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 14 73 0 ENST00000554922.1:c.5794T>A p.Phe1932Ile p.F1932I ENST00000554922 NM_183387.2 1932 Ttt/Att 0 -EMR2 UCSF GRCh37 19 14863278 14863278 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 19 25 0 ENST00000315576.3:c.1651C>T p.Leu551Phe p.L551F ENST00000315576 NM_013447.3 551 Ctc/Ttc 0 -EMR3 UCSF GRCh37 19 14748988 14748988 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 33 53 0 ENST00000253673.5:c.1413C>T p.Gly471= p.G471= ENST00000253673 NM_032571.3 471 ggC/ggT 0 -ENAM UCSF GRCh37 4 71507948 71507948 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 94 16 74 0 ENST00000396073.3:c.805C>T p.Pro269Ser p.P269S ENST00000396073 NM_031889.2 269 Ccc/Tcc 0 -ENGASE UCSF GRCh37 17 77075600 77075600 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 14 43 0 ENST00000579016.1:c.446C>T p.Pro149Leu p.P149L ENST00000579016 NM_001042573.2 149 cCc/cTc 0 -ENOX1 UCSF GRCh37 13 43987009 43987009 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 10 64 0 ENST00000261488.6:c.42C>T p.Pro14= p.P14= ENST00000261488 NM_017993.3 14 ccC/ccT 0 -ENPEP UCSF GRCh37 4 111470771 111470771 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 64 35 71 0 ENST00000265162.5:c.2313G>A p.Trp771Ter p.W771* ENST00000265162 NM_001977.3 771 tgG/tgA 0 -ENPP3 UCSF GRCh37 6 131973802 131973802 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 88 11 80 0 ENST00000414305.1:c.398G>A p.Cys133Tyr p.C133Y ENST00000414305 133 tGc/tAc 0 -ENTPD4 UCSF GRCh37 8 23297262 23297262 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 18 45 0 ENST00000358689.4:c.1049G>A p.Arg350Lys p.R350K ENST00000358689 NM_001128930.2 350 aGg/aAg 0 -EP300 UCSF GRCh37 22 41523561 41523561 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 32 82 0 ENST00000263253.7:c.977G>A p.Gly326Glu p.G326E ENST00000263253 NM_001429.3 326 gGa/gAa 0 -EPB41L4A UCSF GRCh37 5 111540139 111540139 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 39 86 0 ENST00000261486.5:c.1309C>T p.Pro437Ser p.P437S ENST00000261486 NM_022140.3 437 Cct/Tct 0 -EPCAM UCSF GRCh37 2 47601173 47601173 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 8 33 0 ENST00000263735.4:c.411G>A p.Glu137= p.E137= ENST00000263735 NM_002354.2 137 gaG/gaA 0 -EPG5 UCSF GRCh37 18 43496476 43496476 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 17 18 0 ENST00000282041.5:c.3311C>T p.Thr1104Ile p.T1104I ENST00000282041 NM_020964.2 1104 aCc/aTc 0 -EPHA10 UCSF GRCh37 1 38188718 38188718 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 3 27 0 ENST00000373048.4:c.1955G>A p.Gly652Glu p.G652E ENST00000373048 NM_001099439.1 652 gGa/gAa 0 -EPHA2 UCSF GRCh37 1 16475000 16475000 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 7 18 0 ENST00000358432.5:c.696C>T p.Asp232= p.D232= ENST00000358432 NM_004431.3 232 gaC/gaT 0 -EPHA7 UCSF GRCh37 6 93969092 93969092 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 50 43 69 0 ENST00000369303.4:c.1904T>C p.Ile635Thr p.I635T ENST00000369303 NM_004440.3 635 aTt/aCt 0 -EPHB3 UCSF GRCh37 3 184298559 184298559 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 4 27 33 0 ENST00000330394.2:c.2431G>A p.Ala811Thr p.A811T ENST00000330394 NM_004443.3 811 Gcc/Acc 0 -EPHB6 UCSF GRCh37 7 142563309 142563309 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 4 13 0 ENST00000392957.2:c.1026C>T p.Asn342= p.N342= ENST00000392957 NM_004445.4 342 aaC/aaT 0 -EPS8L3 UCSF GRCh37 1 110294697 110294697 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 15 79 0 ENST00000369805.3:c.1357G>A p.Ala453Thr p.A453T ENST00000369805 NM_139053.2 453 Gcc/Acc 0 -ERBB2 UCSF GRCh37 17 37883152 37883152 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 35 18 32 0 ENST00000269571.5:c.3055G>A p.Asp1019Asn p.D1019N ENST00000269571 1019 Gat/Aat 0 -ERBB2IP UCSF GRCh37 5 65371004 65371004 + synonymous_variant Silent SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 64 57 89 0 ENST00000506030.1:c.3930A>G p.Pro1310= p.P1310= ENST00000506030 1310 ccA/ccG 0 -ERC2 UCSF GRCh37 3 55733445 55733445 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 162 19 95 0 ENST00000288221.6:c.2808G>A p.Gly936= p.G936= ENST00000288221 NM_015576.1 936 ggG/ggA 0 -ERCC6L UCSF GRCh37 X 71426212 71426212 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 44 38 0 ENST00000334463.3:c.2405G>A p.Gly802Asp p.G802D ENST00000334463 NM_017669.2 802 gGt/gAt 0 -ERCC6L UCSF GRCh37 X 71426791 71426791 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 14 45 0 ENST00000334463.3:c.1826C>T p.Thr609Ile p.T609I ENST00000334463 NM_017669.2 609 aCt/aTt 0 -ERI1 UCSF GRCh37 8 8887368 8887368 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 37 92 0 ENST00000523898.1:c.874C>T p.Pro292Ser p.P292S ENST00000523898 292 Cct/Tct 0 -ERI1 UCSF GRCh37 8 8887425 8887425 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 90 15 114 0 ENST00000523898.1:c.931C>T p.Gln311Ter p.Q311* ENST00000523898 311 Cag/Tag 0 -ESAM UCSF GRCh37 11 124623720 124623720 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 10 17 0 ENST00000278927.5:c.995C>T p.Thr332Ile p.T332I ENST00000278927 NM_138961.2 332 aCc/aTc 0 -ESCO2 UCSF GRCh37 8 27634036 27634036 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 13 81 0 ENST00000305188.8:c.211G>A p.Ala71Thr p.A71T ENST00000305188 NM_001017420.2 71 Gca/Aca 0 -ESRP1 UCSF GRCh37 8 95653643 95653643 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 69 17 113 0 ENST00000433389.2:c.97C>T p.Leu33= p.L33= ENST00000433389 NM_001034915.2 33 Ctg/Ttg 0 -ESRRA UCSF GRCh37 11 64083256 64083256 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 6 36 0 ENST00000405666.1:c.1090G>A p.Ala364Thr p.A364T ENST00000405666 NM_001282450.1 364 Gcc/Acc 0 -ETS2 UCSF GRCh37 21 40194711 40194711 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 7 23 0 ENST00000360214.3:c.1308G>A p.Lys436= p.K436= ENST00000360214 NM_001256295.1 436 aaG/aaA 0 -EVPL UCSF GRCh37 17 74006448 74006448 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 9 20 0 ENST00000301607.3:c.2838G>A p.Arg946= p.R946= ENST00000301607 NM_001988.2 946 agG/agA 0 -EVPL UCSF GRCh37 17 74003406 74003406 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 15 29 0 ENST00000301607.3:c.5880C>T p.Leu1960= p.L1960= ENST00000301607 NM_001988.2 1960 ctC/ctT 0 -EXD2 UCSF GRCh37 14 69704412 69704412 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 3 11 0 ENST00000409018.3:c.1413C>T p.Asn471= p.N471= ENST00000409018 NM_001193361.1 471 aaC/aaT 0 -EXOC1 UCSF GRCh37 4 56768539 56768539 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 63 8 53 0 ENST00000381295.2:c.2367G>A p.Val789= p.V789= ENST00000381295 NM_001024924.1 789 gtG/gtA 0 -EXOC2 UCSF GRCh37 6 489001 489001 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 182 28 99 0 ENST00000230449.4:c.2659C>T p.Leu887Phe p.L887F ENST00000230449 NM_018303.5 887 Ctt/Ttt 0 -EXOSC1 UCSF GRCh37 10 99203044 99203044 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 106 19 106 0 ENST00000370902.3:c.172G>A p.Glu58Lys p.E58K ENST00000370902 NM_016046.3 58 Gaa/Aaa 0 -F5 UCSF GRCh37 1 169484688 169484688 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 98 76 128 0 ENST00000367797.3:c.6522G>A p.Val2174= p.V2174= ENST00000367797 NM_000130.4 2174 gtG/gtA 0 -F5 UCSF GRCh37 1 169510620 169510620 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 146 26 112 0 ENST00000367797.3:c.3708C>T p.Ser1236= p.S1236= ENST00000367797 NM_000130.4 1236 agC/agT 0 -F8 UCSF GRCh37 X 154157439 154157439 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 69 56 0 ENST00000360256.4:c.4626G>A p.Gly1542= p.G1542= ENST00000360256 NM_000132.3 1542 ggG/ggA 0 -FAAH2 UCSF GRCh37 X 57475016 57475016 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 12 42 0 ENST00000374900.4:c.1288G>A p.Ala430Thr p.A430T ENST00000374900 NM_174912.3 430 Gca/Aca 0 -FABP4 UCSF GRCh37 8 82391107 82391107 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 9 71 0 ENST00000256104.4:c.392G>A p.Arg131Lys p.R131K ENST00000256104 NM_001442.2 131 aGa/aAa 0 -FAM108C1 UCSF GRCh37 15 81046697 81046697 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 31 81 0 ENST00000258884.4:c.976C>T p.Leu326Phe p.L326F ENST00000258884 NM_021214.1 326 Ctt/Ttt 0 -FAM117B UCSF GRCh37 2 203589645 203589645 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 112 60 153 0 ENST00000392238.2:c.759G>A p.Glu253= p.E253= ENST00000392238 253 gaG/gaA 0 -FAM129A UCSF GRCh37 1 184765105 184765105 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 81 12 75 0 ENST00000367511.3:c.1793C>T p.Ala598Val p.A598V ENST00000367511 NM_052966.3 598 gCc/gTc 0 -FAM134C UCSF GRCh37 17 40761264 40761264 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 7 15 0 ENST00000309428.5:c.79G>A p.Gly27Ser p.G27S ENST00000309428 NM_178126.3 27 Ggc/Agc 0 -FAM135A UCSF GRCh37 6 71185377 71185377 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 19 66 0 ENST00000418814.2:c.309C>T p.Thr103= p.T103= ENST00000418814 NM_001162529.1 103 acC/acT 0 -FAM157A UCSF GRCh37 3 197894633 197894633 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 4 25 1 ENST00000437428.2:n.794G>A *265* ENST00000437428 0 -FAM164A UCSF GRCh37 8 79601489 79601489 + missense_variant Missense_Mutation SNP T T A NOVEL P01_Rec Untested WXS Illumina HiSeq 84 19 89 0 ENST00000263849.4:c.385T>A p.Phe129Ile p.F129I ENST00000263849 NM_016010.2 129 Ttc/Atc 0 -FAM166A UCSF GRCh37 9 140139640 140139640 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 9 6 9 0 ENST00000344774.4:c.553C>T p.Pro185Ser p.P185S ENST00000344774 NM_001001710.1 185 Ccc/Tcc 0 -FAM173B UCSF GRCh37 5 10227654 10227654 + missense_variant Missense_Mutation SNP C C T snp132_rs3177295 P01_Rec Untested WXS Illumina HiSeq 21 26 47 0 ENST00000511437.1:c.601G>A p.Glu201Lys p.E201K ENST00000511437 NM_199133.3 201 Gag/Aag 0 -FAM179B UCSF GRCh37 14 45481213 45481213 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 28 49 0 ENST00000361577.3:c.3173G>A p.Cys1058Tyr p.C1058Y ENST00000361577 NM_015091.2 1058 tGt/tAt 0 -FAM19A1 UCSF GRCh37 3 68466435 68466435 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 99 15 95 0 ENST00000478136.1:c.124G>A p.Gly42Arg p.G42R ENST00000478136 NM_213609.3 42 Ggg/Agg 0 -FAM26E UCSF GRCh37 6 116836991 116836991 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 88 19 105 0 ENST00000368599.3:c.769C>T p.Pro257Ser p.P257S ENST00000368599 NM_153711.2 257 Cct/Tct 0 -FAM46C UCSF GRCh37 1 118166409 118166409 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 8 38 0 ENST00000369448.3:c.919C>T p.Leu307Phe p.L307F ENST00000369448 NM_017709.3 307 Ctc/Ttc 0 -FAM48A UCSF GRCh37 13 37598537 37598537 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 8 64 0 ENST00000350612.6:c.1372G>A p.Gly458Ser p.G458S ENST00000350612 NM_001014286.2 458 Ggt/Agt 0 -FAM63A UCSF GRCh37 1 150973040 150973040 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 14 55 0 ENST00000361738.6:c.772G>A p.Val258Ile p.V258I ENST00000361738 NM_001163258.1 258 Gtc/Atc 0 -FAM69B UCSF GRCh37 9 139617831 139617831 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 4 21 0 ENST00000371692.4:c.901G>A p.Ala301Thr p.A301T ENST00000371692 NM_152421.3 301 Gcc/Acc 0 -GARIN4 UCSF GRCh37 1 212799161 212799161 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 12 26 0 ENST00000294829.3:c.942G>A p.Gly314= p.G314= ENST00000294829 NM_153606.3 314 ggG/ggA 0 -GARIN1A UCSF GRCh37 7 128320204 128320204 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 13 42 0 ENST00000480462.1:c.734+1G>A p.X245_splice ENST00000480462 0 -FAM75A6 UCSF GRCh37 9 43627812 43627812 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 115 26 148 0 ENST00000332857.6:c.875C>T p.Ala292Val p.A292V ENST00000332857 NM_001145196.1 292 gCc/gTc 0 -FAM83B UCSF GRCh37 6 54806653 54806653 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 80 11 121 0 ENST00000306858.7:c.2884G>A p.Glu962Lys p.E962K ENST00000306858 NM_001010872.2 962 Gaa/Aaa 0 -FAM83B UCSF GRCh37 6 54806562 54806562 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 91 25 118 0 ENST00000306858.7:c.2793G>A p.Arg931= p.R931= ENST00000306858 NM_001010872.2 931 cgG/cgA 0 -FAM90A1 UCSF GRCh37 12 8374486 8374486 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 79 10 47 0 ENST00000538603.1:c.1327C>T p.Pro443Ser p.P443S ENST00000538603 NM_018088.3 443 Cca/Tca 0 -FANCA UCSF GRCh37 16 89805354 89805354 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 8 59 0 ENST00000389301.3:c.4196C>T p.Ala1399Val p.A1399V ENST00000389301 NM_000135.2 1399 gCt/gTt 0 -FARP1 UCSF GRCh37 13 99091386 99091386 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 23 35 0 ENST00000319562.6:c.2369G>A p.Ser790Asn p.S790N ENST00000319562 NM_005766.2 790 aGc/aAc 0 -FARS2 UCSF GRCh37 6 5369382 5369382 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 56 9 41 0 ENST00000324331.6:c.579G>A p.Gln193= p.Q193= ENST00000324331 193 caG/caA 0 -FASTKD1 UCSF GRCh37 2 170386416 170386416 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 6 52 0 ENST00000453153.2:c.2463C>T p.Asn821= p.N821= ENST00000453153 NM_024622.4 821 aaC/aaT 0 -FASTKD3 UCSF GRCh37 5 7863012 7863012 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 151 24 141 0 ENST00000264669.5:c.1623G>A p.Lys541= p.K541= ENST00000264669 NM_024091.3 541 aaG/aaA 0 -FAT1 UCSF GRCh37 4 187509963 187509963 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 37 14 78 0 ENST00000441802.2:c.13550C>T p.Ala4517Val p.A4517V ENST00000441802 NM_005245.3 4517 gCc/gTc 0 -FAT1 UCSF GRCh37 4 187542914 187542914 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 15 52 112 0 ENST00000441802.2:c.4826C>T p.Ser1609Phe p.S1609F ENST00000441802 NM_005245.3 1609 tCt/tTt 0 -FAT1 UCSF GRCh37 4 187627860 187627860 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 71 123 0 ENST00000441802.2:c.3122G>A p.Gly1041Glu p.G1041E ENST00000441802 NM_005245.3 1041 gGg/gAg 0 -FAT3 UCSF GRCh37 11 92086268 92086268 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 94 57 109 0 ENST00000298047.6:c.990G>A p.Lys330= p.K330= ENST00000298047 330 aaG/aaA 0 -FAT4 UCSF GRCh37 4 126240599 126240599 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 45 118 0 ENST00000394329.3:c.3033G>A p.Val1011= p.V1011= ENST00000394329 NM_024582.4 1011 gtG/gtA 0 -FBLN1 UCSF GRCh37 22 45959103 45959103 + intron_variant Intron SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 10 22 0 ENST00000327858.6:c.1698-11288C>T *566* ENST00000327858 NM_006486.2 0 -FBLN2 UCSF GRCh37 3 13613057 13613057 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 7 20 0 ENST00000404922.3:c.1202C>T p.Pro401Leu p.P401L ENST00000404922 NM_001004019.1 401 cCc/cTc 0 -FBLN5 UCSF GRCh37 14 92349365 92349365 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 11 26 0 ENST00000342058.4:c.795G>A p.Gln265= p.Q265= ENST00000342058 NM_006329.3 265 caG/caA 0 -FBN1 UCSF GRCh37 15 48717668 48717668 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 12 49 0 ENST00000316623.5:c.7351G>A p.Ala2451Thr p.A2451T ENST00000316623 NM_000138.4 2451 Gct/Act 0 -FBN1 UCSF GRCh37 15 48757772 48757772 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 12 68 0 ENST00000316623.5:c.4935G>A p.Val1645= p.V1645= ENST00000316623 NM_000138.4 1645 gtG/gtA 0 -FBN3 UCSF GRCh37 19 8148151 8148151 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 19 37 0 ENST00000600128.1:c.7193C>T p.Ala2398Val p.A2398V ENST00000600128 2398 gCt/gTt 0 -FBXL5 UCSF GRCh37 4 15627527 15627527 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 24 66 0 ENST00000341285.3:c.1198G>A p.Ala400Thr p.A400T ENST00000341285 NM_001193534.1 400 Gcc/Acc 0 -FBXO18 UCSF GRCh37 10 5965617 5965617 + missense_variant Missense_Mutation SNP G G C NOVEL P01_Rec Untested WXS Illumina HiSeq 40 35 61 0 ENST00000379999.5:c.2509G>C p.Asp837His p.D837H ENST00000379999 NM_032807.4 837 Gat/Cat 0 -FBXO34 UCSF GRCh37 14 55818571 55818571 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 59 107 0 ENST00000313833.4:c.1463G>A p.Gly488Asp p.G488D ENST00000313833 NM_017943.3 488 gGt/gAt 0 -FCER1A UCSF GRCh37 1 159273926 159273926 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 12 75 0 ENST00000368115.1:c.285C>T p.His95= p.H95= ENST00000368115 NM_002001.3 95 caC/caT 0 -FCHO2 UCSF GRCh37 5 72264375 72264375 + synonymous_variant Silent SNP A A T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 30 98 0 ENST00000430046.2:c.84A>T p.Gly28= p.G28= ENST00000430046 NM_138782.2 28 ggA/ggT 0 -FCRLA UCSF GRCh37 1 161680678 161680678 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 5 42 0 ENST00000367959.2:c.277C>T p.Pro93Ser p.P93S ENST00000367959 NM_001184866.1 93 Ccc/Tcc 0 -FER1L5 UCSF GRCh37 2 97370246 97370246 + downstream_gene_variant 3'Flank SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 113 65 128 0 ENST00000377079 NM_001142292.1 0 -FER1L6 UCSF GRCh37 8 125072466 125072466 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 56 22 78 0 ENST00000522917.1:c.2920G>A p.Asp974Asn p.D974N ENST00000522917 NM_001039112.2 974 Gac/Aac 0 -FFAR2 UCSF GRCh37 19 35941280 35941280 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 13 23 0 ENST00000599180.2:c.664G>A p.Gly222Arg p.G222R ENST00000599180 222 Ggg/Agg 0 -FGA UCSF GRCh37 4 155507088 155507088 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 6 82 0 ENST00000302053.3:c.1493G>A p.Gly498Asp p.G498D ENST00000302053 NM_000508.3 498 gGc/gAc 0 -FH UCSF GRCh37 1 241671969 241671969 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 11 74 0 ENST00000366560.3:c.672G>A p.Glu224= p.E224= ENST00000366560 NM_000143.3 224 gaG/gaA 0 -FHOD3 UCSF GRCh37 18 34320685 34320685 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 7 48 0 ENST00000257209.4:c.3118C>T p.Pro1040Ser p.P1040S ENST00000257209 NM_025135.2 1040 Cct/Tct 0 -FHOD3 UCSF GRCh37 18 34205546 34205546 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 19 40 0 ENST00000257209.4:c.1030G>A p.Ala344Thr p.A344T ENST00000257209 NM_025135.2 344 Gcc/Acc 0 -FKBP10 UCSF GRCh37 17 39975921 39975921 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 5 19 0 ENST00000321562.4:c.1057G>A p.Gly353Arg p.G353R ENST00000321562 NM_021939.3 353 Gga/Aga 0 -FLII UCSF GRCh37 17 18157899 18157899 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 4 15 0 ENST00000327031.4:c.511C>T p.Arg171Cys p.R171C ENST00000327031 NM_002018.3 171 Cgc/Tgc 0 -FLII UCSF GRCh37 17 18149750 18149751 + inframe_insertion In_Frame_Ins INS - - CTC NOVEL P01_Rec Untested WXS Illumina HiSeq 6 0 ENST00000327031.4:c.3079_3080insGGA p.Glu1026_Asn1027insArg p.E1026_N1027insR ENST00000327031 NM_002018.3 1026 gag/gaGAGg 0 -FLNB UCSF GRCh37 3 58108939 58108939 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 78 27 81 0 ENST00000490882.1:c.3246G>A p.Glu1082= p.E1082= ENST00000490882 NM_001164317.1 1082 gaG/gaA 0 -FMNL2 UCSF GRCh37 2 153496531 153496531 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 4 12 0 ENST00000288670.9:c.3006C>T p.Leu1002= p.L1002= ENST00000288670 NM_052905.3 1002 ctC/ctT 0 -FN1 UCSF GRCh37 2 216248897 216248897 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 46 82 0 ENST00000354785.4:c.4740C>T p.Ser1580= p.S1580= ENST00000354785 1580 agC/agT 0 -FNDC7 UCSF GRCh37 1 109276039 109276039 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 40 80 0 ENST00000370017.3:c.2025C>T p.Gly675= p.G675= ENST00000370017 NM_001144937.1 675 ggC/ggT 0 -FNIP1 UCSF GRCh37 5 131007197 131007197 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 96 25 93 0 ENST00000510461.1:c.2939+1G>A p.X980_splice ENST00000510461 NM_133372.2 0 -FOLH1 UCSF GRCh37 11 49221860 49221860 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 54 132 0 ENST00000256999.2:c.358C>T p.Pro120Ser p.P120S ENST00000256999 NM_004476.1 120 Cca/Tca 0 -FOLR1 UCSF GRCh37 11 71906504 71906504 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 45 70 0 ENST00000393679.1:c.357+1G>A p.X119_splice ENST00000393679 0 -FOSB UCSF GRCh37 19 45974128 45974128 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 5 10 14 0 ENST00000353609.3:c.368C>T p.Pro123Leu p.P123L ENST00000353609 NM_006732.2 123 cCt/cTt 0 -FOXB1 UCSF GRCh37 15 60297264 60297264 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 25 26 0 ENST00000396057.4:c.102G>A p.Leu34= p.L34= ENST00000396057 NM_012182.2 34 ctG/ctA 0 -FOXD2 UCSF GRCh37 1 47904249 47904249 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 18 34 0 ENST00000334793.5:c.442C>T p.Leu148= p.L148= ENST00000334793 NM_004474.3 148 Ctg/Ttg 0 -FOXF2 UCSF GRCh37 6 1390553 1390553 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 8 13 0 ENST00000259806.1:c.371G>A p.Ser124Asn p.S124N ENST00000259806 NM_001452.1 124 aGc/aAc 0 -FOXJ3 UCSF GRCh37 1 42657092 42657092 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 35 56 0 ENST00000372572.1:c.1233G>A p.Gln411= p.Q411= ENST00000372572 NM_001198851.1 411 caG/caA 0 -FOXP2 UCSF GRCh37 7 114282468 114282468 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 35 39 0 ENST00000408937.3:c.854G>A p.Gly285Asp p.G285D ENST00000408937 NM_014491.3 285 gGc/gAc 0 -FOXR2 UCSF GRCh37 X 55650852 55650852 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 6 39 0 ENST00000339140.3:c.708G>A p.Trp236Ter p.W236* ENST00000339140 NM_198451.3 236 tgG/tgA 0 -FPGT UCSF GRCh37 1 74670257 74670257 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 55 87 0 ENST00000609362.1:c.526G>A p.Gly176Arg p.G176R ENST00000609362 176 Gga/Aga 0 -FRMD7 UCSF GRCh37 X 131212643 131212643 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 78 17 49 0 ENST00000298542.4:c.1402C>T p.Arg468Cys p.R468C ENST00000298542 NM_194277.2 468 Cgt/Tgt 0 -FRRS1 UCSF GRCh37 1 100195235 100195235 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 9 24 0 ENST00000287474.5:c.829G>A p.Gly277Arg p.G277R ENST00000287474 NM_001013660.2 277 Ggg/Agg 0 -FSD2 UCSF GRCh37 15 83437672 83437672 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 5 37 0 ENST00000334574.8:c.1513C>T p.Leu505= p.L505= ENST00000334574 505 Ctg/Ttg 0 -FSTL4 UCSF GRCh37 5 132561419 132561419 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 22 42 0 ENST00000265342.7:c.1108C>T p.Pro370Ser p.P370S ENST00000265342 NM_015082.1 370 Ccc/Tcc 0 -FUT9 UCSF GRCh37 6 96651854 96651854 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 27 62 0 ENST00000302103.5:c.823G>A p.Glu275Lys p.E275K ENST00000302103 NM_006581.3 275 Gaa/Aaa 0 -FYB UCSF GRCh37 5 39119705 39119705 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 83 43 151 0 ENST00000540520.1:c.2200G>A p.Glu734Lys p.E734K ENST00000540520 NM_001243093.1 734 Gaa/Aaa 0 -FZD2 UCSF GRCh37 17 42636154 42636154 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 11 24 0 ENST00000315323.3:c.1098G>A p.Glu366= p.E366= ENST00000315323 NM_001466.3 366 gaG/gaA 0 -FZD7 UCSF GRCh37 2 202900847 202900847 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 3 26 0 ENST00000286201.1:c.1477C>T p.Gln493Ter p.Q493* ENST00000286201 NM_003507.1 493 Cag/Tag 0 -GAB1 UCSF GRCh37 4 144359379 144359379 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 12 43 0 ENST00000262995.4:c.821C>T p.Ser274Phe p.S274F ENST00000262995 NM_207123.2 274 tCt/tTt 0 -GADD45G UCSF GRCh37 9 92220582 92220582 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 4 10 0 ENST00000252506.6:c.156G>A p.Val52= p.V52= ENST00000252506 NM_006705.3 52 gtG/gtA 0 -GAL3ST4 UCSF GRCh37 7 99758503 99758503 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 6 27 0 ENST00000360039.4:c.509C>T p.Ser170Phe p.S170F ENST00000360039 NM_024637.4 170 tCc/tTc 0 -GALNT13 UCSF GRCh37 2 155099216 155099216 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 19 83 0 ENST00000392825.3:c.484C>T p.Leu162Phe p.L162F ENST00000392825 NM_052917.2 162 Ctc/Ttc 0 -GALNTL6 UCSF GRCh37 4 173961168 173961168 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 6 94 0 ENST00000506823.1:c.1723C>T p.Pro575Ser p.P575S ENST00000506823 NM_001034845.2 575 Cct/Tct 0 -GANAB UCSF GRCh37 11 62398076 62398076 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 28 31 0 ENST00000346178.4:c.1449G>A p.Arg483= p.R483= ENST00000346178 NM_198335.3 483 cgG/cgA 0 -GAS2L2 UCSF GRCh37 17 34072163 34072163 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 18 39 0 ENST00000254466.6:c.2353G>A p.Asp785Asn p.D785N ENST00000254466 NM_139285.3 785 Gac/Aac 0 -GAS6 UCSF GRCh37 13 114535664 114535664 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 18 22 0 ENST00000327773.6:c.896G>A p.Arg299Gln p.R299Q ENST00000327773 NM_000820.2 299 cGg/cAg 0 -GATM UCSF GRCh37 15 45656140 45656140 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 8 63 0 ENST00000396659.3:c.1117G>A p.Asp373Asn p.D373N ENST00000396659 NM_001482.2 373 Gat/Aat 0 -GBA2 UCSF GRCh37 9 35741757 35741757 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 4 35 0 ENST00000378103.3:c.698C>T p.Pro233Leu p.P233L ENST00000378103 NM_020944.2 233 cCc/cTc 0 -GBP3 UCSF GRCh37 1 89473487 89473487 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 35 96 0 ENST00000370481.4:c.1708C>T p.Leu570Phe p.L570F ENST00000370481 NM_018284.2 570 Ctt/Ttt 0 -GCDH UCSF GRCh37 19 13007724 13007724 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 5 10 0 ENST00000222214.5:c.853G>A p.Gly285Ser p.G285S ENST00000222214 NM_000159.3 285 Ggt/Agt 0 -GCHFR UCSF GRCh37 15 41059451 41059451 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 14 29 0 ENST00000260447.4:c.159C>T p.Pro53= p.P53= ENST00000260447 NM_005258.2 53 ccC/ccT 0 -GCK UCSF GRCh37 7 44187403 44187403 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 10 17 0 ENST00000345378.2:c.712G>A p.Glu238Lys p.E238K ENST00000345378 NM_033507.1 238 Gag/Aag 0 -GCLC UCSF GRCh37 6 53381010 53381010 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 25 58 0 ENST00000229416.6:c.457C>T p.Pro153Ser p.P153S ENST00000229416 NM_001197115.1 153 Cct/Tct 0 -GDF2 UCSF GRCh37 10 48413747 48413747 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 18 31 0 ENST00000249598.1:c.1121C>T p.Ala374Val p.A374V ENST00000249598 NM_016204.1 374 gCt/gTt 0 -GDPD1 UCSF GRCh37 17 57348345 57348345 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 43 98 0 ENST00000284116.4:c.759G>A p.Trp253Ter p.W253* ENST00000284116 NM_182569.3 253 tgG/tgA 0 -GEMIN5 UCSF GRCh37 5 154292500 154292500 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 56 7 52 0 ENST00000285873.7:c.1954G>A p.Asp652Asn p.D652N ENST00000285873 NM_001252156.1 652 Gat/Aat 0 -GFER UCSF GRCh37 16 2034833 2034833 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 5 25 0 ENST00000248114.6:c.344C>T p.Ala115Val p.A115V ENST00000248114 NM_005262.2 115 gCc/gTc 0 -GFRA2 UCSF GRCh37 8 21560357 21560357 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 6 12 0 ENST00000524240.1:c.1178G>A p.Ser393Asn p.S393N ENST00000524240 NM_001495.4 393 aGc/aAc 0 -GH2 UCSF GRCh37 17 61957741 61957741 + 3_prime_UTR_variant 3'UTR SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 31 75 0 ENST00000332800.7:c.*76G>A *26* ENST00000332800 NM_002059.4 0 -GIF UCSF GRCh37 11 59604702 59604702 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 30 63 0 ENST00000257248.2:c.816C>T p.Leu272= p.L272= ENST00000257248 NM_005142.2 272 ctC/ctT 0 -GIGYF1 UCSF GRCh37 7 100280950 100280950 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 4 17 0 ENST00000275732.5:c.2170G>A p.Glu724Lys p.E724K ENST00000275732 NM_022574.4 724 Gaa/Aaa 0 -GIT1 UCSF GRCh37 17 27903626 27903626 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 8 11 16 0 ENST00000394869.3:c.1321G>A p.Ala441Thr p.A441T ENST00000394869 NM_001085454.1 441 Gcc/Acc 0 -GJA8 UCSF GRCh37 1 147380848 147380848 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 23 54 0 ENST00000240986.4:c.766G>A p.Ala256Thr p.A256T ENST00000240986 NM_005267.4 256 Gct/Act 0 -GLG1 UCSF GRCh37 16 74526903 74526903 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 64 11 81 0 ENST00000205061.5:c.1186G>A p.Ala396Thr p.A396T ENST00000205061 NM_012201.5 396 Gcc/Acc 0 -GLT25D2 UCSF GRCh37 1 183913371 183913371 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 32 59 0 ENST00000361927.4:c.1356G>A p.Leu452= p.L452= ENST00000361927 NM_015101.2 452 ctG/ctA 0 -GMIP UCSF GRCh37 19 19750912 19750912 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 11 14 0 ENST00000203556.4:c.519G>A p.Gln173= p.Q173= ENST00000203556 NM_016573.2 173 caG/caA 0 -GNA14 UCSF GRCh37 9 80040551 80040551 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 85 44 132 0 ENST00000341700.6:c.804C>T p.Phe268= p.F268= ENST00000341700 NM_004297.3 268 ttC/ttT 0 -GNA15 UCSF GRCh37 19 3162822 3162822 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 13 15 0 ENST00000262958.3:c.930G>A p.Arg310= p.R310= ENST00000262958 NM_002068.2 310 agG/agA 0 -GNAL UCSF GRCh37 18 11872322 11872322 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 37 146 0 ENST00000334049.6:c.1087G>A p.Glu363Lys p.E363K ENST00000334049 NM_182978.3 363 Gaa/Aaa 0 -GNAS UCSF GRCh37 20 57415344 57415344 + intron_variant,non_coding_transcript_variant Intron SNP C C T snp132_rs1800901 P01_Rec Untested WXS Illumina HiSeq 25 3 20 0 ENST00000424094.2:n.819+1648G>A *273* ENST00000424094 0 -GNB5 UCSF GRCh37 15 52446146 52446146 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 27 60 0 ENST00000261837.7:c.366C>T p.Ser122= p.S122= ENST00000261837 NM_016194.3 122 agC/agT 0 -GNPNAT1 UCSF GRCh37 14 53248573 53248573 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 88 17 98 0 ENST00000216410.3:c.274G>A p.Val92Met p.V92M ENST00000216410 NM_198066.3 92 Gtg/Atg 0 -GOLGA1 UCSF GRCh37 9 127642825 127642825 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0015 P01_Rec Untested WXS Illumina HiSeq 70 35 72 0 ENST00000373555.4:c.2288G>A p.Arg763Gln p.R763Q ENST00000373555 NM_002077.3 763 cGg/cAg 0 -GOLGA4 UCSF GRCh37 3 37368568 37368568 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 25 145 0 ENST00000356847.4:c.5257C>T p.Gln1753Ter p.Q1753* ENST00000356847 NM_001172713.1 1753 Cag/Tag 0 -GOLGA4 UCSF GRCh37 3 37367002 37367002 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 46 128 0 ENST00000356847.4:c.3691C>T p.Leu1231= p.L1231= ENST00000356847 NM_001172713.1 1231 Ctg/Ttg 0 -GOLGA6C UCSF GRCh37 15 75562438 75562438 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 24 62 0 ENST00000300576.5:c.1980C>T p.Asn660= p.N660= ENST00000300576 NM_001164404.1 660 aaC/aaT 0 -GORASP2 UCSF GRCh37 2 171806194 171806194 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 32 108 0 ENST00000234160.4:c.290G>A p.Gly97Glu p.G97E ENST00000234160 NM_015530.4 97 gGa/gAa 0 -GPAA1 UCSF GRCh37 8 145139655 145139655 + synonymous_variant Silent SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 26 3 45 0 ENST00000355091.4:c.1041C>T p.Asn347= p.N347= ENST00000355091 NM_003801.3 347 aaC/aaT 0 -GPR107 UCSF GRCh37 9 132837988 132837988 + missense_variant Missense_Mutation SNP G G T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 4 22 0 ENST00000372406.1:c.215G>T p.Ser72Ile p.S72I ENST00000372406 NM_001136557.1 72 aGt/aTt 0 -GPR112 UCSF GRCh37 X 135405205 135405205 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 66 43 0 ENST00000394143.1:c.339C>T p.His113= p.H113= ENST00000394143 NM_153834.3 113 caC/caT 0 -GPR137C UCSF GRCh37 14 53098962 53098962 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 44 79 0 ENST00000321662.6:c.802G>A p.Val268Ile p.V268I ENST00000321662 NM_001099652.1 268 Gtc/Atc 0 -GPR158 UCSF GRCh37 10 25886967 25886967 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 141 21 110 0 ENST00000376351.3:c.2412G>A p.Glu804= p.E804= ENST00000376351 NM_020752.2 804 gaG/gaA 0 -GPR172A UCSF GRCh37 8 145583449 145583449 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 23 51 0 ENST00000532887.1:c.297G>A p.Trp99Ter p.W99* ENST00000532887 99 tgG/tgA 0 -GPR176 UCSF GRCh37 15 40093646 40093646 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 24 45 0 ENST00000561100.1:c.1235G>A p.Gly412Glu p.G412E ENST00000561100 NM_007223.2 412 gGa/gAa 0 -GPR19 UCSF GRCh37 12 12814250 12814250 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 83 45 142 0 ENST00000540510.1:c.1133C>T p.Pro378Leu p.P378L ENST00000540510 378 cCt/cTt 0 -GPR22 UCSF GRCh37 7 107115668 107115668 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 58 143 0 ENST00000304402.4:c.1163C>T p.Ser388Phe p.S388F ENST00000304402 NM_005295.2 388 tCt/tTt 0 -GPR37L1 UCSF GRCh37 1 202092434 202092434 + missense_variant Missense_Mutation SNP C C A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 6 22 1 ENST00000367282.5:c.343C>A p.Gln115Lys p.Q115K ENST00000367282 NM_004767.3 115 Cag/Aag 0 -GPR45 UCSF GRCh37 2 105858490 105858490 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 17 41 0 ENST00000258456.1:c.175G>A p.Val59Met p.V59M ENST00000258456 NM_007227.3 59 Gtg/Atg 0 -GPR64 UCSF GRCh37 X 19032072 19032072 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 8 28 0 ENST00000379869.3:c.831C>T p.Thr277= p.T277= ENST00000379869 NM_001079858.2 277 acC/acT 0 -GPRC6A UCSF GRCh37 6 117127574 117127574 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 21 51 0 ENST00000310357.3:c.1294G>A p.Ala432Thr p.A432T ENST00000310357 NM_148963.2 432 Gct/Act 0 -GPRC6A UCSF GRCh37 6 117130700 117130700 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 27 56 0 ENST00000310357.3:c.275G>A p.Gly92Glu p.G92E ENST00000310357 NM_148963.2 92 gGa/gAa 0 -GPRC6A UCSF GRCh37 6 117127942 117127942 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 54 120 0 ENST00000310357.3:c.926C>T p.Thr309Ile p.T309I ENST00000310357 NM_148963.2 309 aCc/aTc 0 -GPX4 UCSF GRCh37 19 1106459 1106459 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 5 21 0 ENST00000354171.8:c.561+1G>A p.X187_splice ENST00000354171 NM_001039847.1 0 -GPX6 UCSF GRCh37 6 28478643 28478643 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 69 18 49 0 ENST00000361902.1:c.126G>A p.Glu42= p.E42= ENST00000361902 NM_182701.1 42 gaG/gaA 0 -GREB1 UCSF GRCh37 2 11765424 11765424 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 171 61 112 0 ENST00000381486.2:c.4292G>A p.Gly1431Asp p.G1431D ENST00000381486 NM_014668.3 1431 gGt/gAt 0 -GRHL1 UCSF GRCh37 2 10104452 10104452 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 19 43 0 ENST00000324907.9:c.992C>T p.Ala331Val p.A331V ENST00000324907 NM_198182.2 331 gCt/gTt 0 -GRID1 UCSF GRCh37 10 87406962 87406962 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 69 35 75 0 ENST00000327946.7:c.2190G>A p.Arg730= p.R730= ENST00000327946 NM_017551.2 730 agG/agA 0 -GRID2 UCSF GRCh37 4 94138039 94138039 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 105 27 116 0 ENST00000282020.4:c.940G>A p.Asp314Asn p.D314N ENST00000282020 NM_001510.2 314 Gat/Aat 0 -GRID2 UCSF GRCh37 4 94376896 94376896 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 27 70 0 ENST00000282020.4:c.1629C>T p.Tyr543= p.Y543= ENST00000282020 NM_001510.2 543 taC/taT 0 -GRID2 UCSF GRCh37 4 94316793 94316793 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 35 98 0 ENST00000282020.4:c.1281G>A p.Gly427= p.G427= ENST00000282020 NM_001510.2 427 ggG/ggA 0 -GRIK1 UCSF GRCh37 21 31062291 31062291 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 11 35 0 ENST00000399907.1:c.301G>A p.Ala101Thr p.A101T ENST00000399907 NM_000830.3 101 Gct/Act 0 -GRIN1 UCSF GRCh37 9 140058244 140058244 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 17 33 0 ENST00000371553.3:c.2540C>T p.Ala847Val p.A847V ENST00000371553 NM_001185090.1 847 gCc/gTc 0 -GRIP2 UCSF GRCh37 3 14536441 14536441 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 4 18 0 ENST00000273083.3:n.2945C>T *982* ENST00000273083 0 -GRM1 UCSF GRCh37 6 146720776 146720776 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 21 18 0 ENST00000361719.2:c.2601C>T p.Cys867= p.C867= ENST00000361719 867 tgC/tgT 0 -GRM1 UCSF GRCh37 6 146747734 146747734 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 24 62 0 ENST00000361719.2:c.2661-7274G>A *887* ENST00000361719 0 -GRM2 UCSF GRCh37 3 51749551 51749551 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 18 22 0 ENST00000395052.3:c.1762G>A p.Val588Ile p.V588I ENST00000395052 NM_000839.3 588 Gtc/Atc 0 -GRM8 UCSF GRCh37 7 126882895 126882895 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 26 82 0 ENST00000339582.2:c.364G>A p.Ala122Thr p.A122T ENST00000339582 122 Gca/Aca 0 -GRTP1 UCSF GRCh37 13 113980369 113980369 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 10 17 0 ENST00000375431.4:c.600C>T p.Asp200= p.D200= ENST00000375431 NM_024719.2 200 gaC/gaT 0 -GRXCR1 UCSF GRCh37 4 42895398 42895398 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 77 48 89 0 ENST00000399770.2:c.115T>C p.Ser39Pro p.S39P ENST00000399770 NM_001080476.2 39 Tca/Cca 0 -GRXCR2 UCSF GRCh37 5 145239346 145239346 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 23 57 0 ENST00000377976.1:c.697C>T p.Pro233Ser p.P233S ENST00000377976 NM_001080516.1 233 Cct/Tct 0 -GSG2 UCSF GRCh37 17 3628523 3628523 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 35 82 0 ENST00000325418.4:c.1294G>A p.Ala432Thr p.A432T ENST00000325418 NM_031965.2 432 Gct/Act 0 -GTSE1 UCSF GRCh37 22 46708062 46708062 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 30 61 0 ENST00000454366.1:c.787C>T p.Pro263Ser p.P263S ENST00000454366 NM_016426.6 263 Cct/Tct 0 -GXYLT1 UCSF GRCh37 12 42481737 42481737 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 25 60 0 ENST00000398675.3:c.1174G>A p.Asp392Asn p.D392N ENST00000398675 NM_173601.1 392 Gat/Aat 0 -GXYLT1 UCSF GRCh37 12 42491349 42491349 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 124 14 111 0 ENST00000398675.3:c.1056C>T p.Cys352= p.C352= ENST00000398675 NM_173601.1 352 tgC/tgT 0 -HAP1 UCSF GRCh37 17 39881070 39881070 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 93 11 61 0 ENST00000347901.4:c.1743C>T p.Asn581= p.N581= ENST00000347901 NM_177977.2 581 aaC/aaT 0 -HBS1L UCSF GRCh37 6 135358639 135358639 + intron_variant Intron SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 12 69 0 ENST00000367837.5:c.430+2072G>A *144* ENST00000367837 NM_006620.3 0 -HBS1L UCSF GRCh37 6 135360725 135360725 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 100 22 125 0 ENST00000367837.5:c.416G>A p.Gly139Glu p.G139E ENST00000367837 NM_006620.3 139 gGa/gAa 0 -HDAC4 UCSF GRCh37 2 239990216 239990216 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 5 16 0 ENST00000345617.3:c.2823C>T p.Thr941= p.T941= ENST00000345617 NM_006037.3 941 acC/acT 0 -HEATR4 UCSF GRCh37 14 73965842 73965842 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 37 73 0 ENST00000553558.1:c.2289G>A p.Val763= p.V763= ENST00000553558 NM_001220484.1 763 gtG/gtA 0 -HEATR5A UCSF GRCh37 14 31852965 31852965 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 12 53 0 ENST00000389961.3:c.1340G>A p.Ser447Asn p.S447N ENST00000389961 447 aGt/aAt 0 -HEATR6 UCSF GRCh37 17 58123567 58123567 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 36 103 0 ENST00000184956.6:c.2793C>T p.Ala931= p.A931= ENST00000184956 NM_022070.4 931 gcC/gcT 0 -HECTD1 UCSF GRCh37 14 31592144 31592144 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 107 20 111 0 ENST00000399332.1:c.5091G>A p.Glu1697= p.E1697= ENST00000399332 NM_015382.2 1697 gaG/gaA 0 -HECTD1 UCSF GRCh37 14 31597876 31597876 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 35 71 0 ENST00000399332.1:c.4701C>T p.Ser1567= p.S1567= ENST00000399332 NM_015382.2 1567 agC/agT 0 -HELZ UCSF GRCh37 17 65147165 65147165 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 38 93 0 ENST00000358691.5:c.2353C>T p.Pro785Ser p.P785S ENST00000358691 NM_014877.3 785 Cct/Tct 0 -HERC1 UCSF GRCh37 15 63986511 63986511 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 118 15 98 0 ENST00000443617.2:c.5480G>A p.Gly1827Glu p.G1827E ENST00000443617 NM_003922.3 1827 gGg/gAg 0 -HERC4 UCSF GRCh37 10 69748441 69748441 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 96 18 142 0 ENST00000395198.3:c.1785G>A p.Lys595= p.K595= ENST00000395198 NM_022079.2 595 aaG/aaA 0 -HGSNAT UCSF GRCh37 8 43046714 43046714 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 45 15 56 0 ENST00000379644.4:c.1226T>C p.Leu409Pro p.L409P ENST00000379644 NM_152419.2 409 cTc/cCc 0 -HINFP UCSF GRCh37 11 119003262 119003262 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 8 36 0 ENST00000350777.2:c.733C>T p.Arg245Trp p.R245W ENST00000350777 NM_198971.2 245 Cgg/Tgg 0 -HINT3 UCSF GRCh37 6 126296071 126296071 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 44 106 0 ENST00000229633.5:c.468C>T p.Gly156= p.G156= ENST00000229633 NM_138571.4 156 ggC/ggT 0 -HIPK1 UCSF GRCh37 1 114512655 114512655 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 102 24 54 0 ENST00000369558.1:c.2849G>A p.Ser950Asn p.S950N ENST00000369558 950 aGc/aAc 0 -HIRA UCSF GRCh37 22 19347002 19347002 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 5 18 0 ENST00000263208.5:c.2091C>T p.Ser697= p.S697= ENST00000263208 NM_003325.3 697 agC/agT 0 -HIVEP1 UCSF GRCh37 6 12123966 12123966 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 105 14 58 0 ENST00000379388.2:c.3938C>T p.Ser1313Phe p.S1313F ENST00000379388 NM_002114.2 1313 tCt/tTt 0 -HIVEP1 UCSF GRCh37 6 12124361 12124361 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 143 30 112 0 ENST00000379388.2:c.4333C>T p.Pro1445Ser p.P1445S ENST00000379388 NM_002114.2 1445 Cct/Tct 0 -HIVEP1 UCSF GRCh37 6 12122439 12122439 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 119 44 103 0 ENST00000379388.2:c.2411G>A p.Ser804Asn p.S804N ENST00000379388 NM_002114.2 804 aGt/aAt 0 -HLA-B UCSF GRCh37 6 31323134 31323134 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.020,snp132_rs1050240 P01_Rec Untested WXS Illumina HiSeq 62 10 26 1 ENST00000412585.2:c.855A>G p.Val285= p.V285= ENST00000412585 NM_005514.6 285 gtA/gtG 0 -HLA-C UCSF GRCh37 6 31239616 31239616 + missense_variant Missense_Mutation SNP C C A 1000g2010nov_all_0.000,1000g2011may_all_0.0851,snp132_rs1050445 P01_Rec Untested WXS Illumina HiSeq 26 4 11 0 ENST00000376228.5:c.103G>T p.Ala35Ser p.A35S ENST00000376228 NM_002117.5 35 Gcc/Tcc 0 -HLA-DMA UCSF GRCh37 6 32917118 32917118 + synonymous_variant Silent SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 36 7 20 0 ENST00000374843.4:c.711T>C p.Phe237= p.F237= ENST00000374843 NM_006120.3 237 ttT/ttC 0 -HLA-DPB1 UCSF GRCh37 6 33053616 33053616 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 64 23 34 0 ENST00000418931.2:c.707G>A p.Gly236Glu p.G236E ENST00000418931 NM_002121.5 236 gGg/gAg 0 -HMCN1 UCSF GRCh37 1 186072691 186072691 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 30 57 0 ENST00000271588.4:c.10661G>A p.Gly3554Glu p.G3554E ENST00000271588 NM_031935.2 3554 gGa/gAa 0 -HMGCS2 UCSF GRCh37 1 120301844 120301844 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 9 65 0 ENST00000369406.3:c.747G>A p.Glu249= p.E249= ENST00000369406 NM_005518.3 249 gaG/gaA 0 -HMOX1 UCSF GRCh37 22 35789569 35789569 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 38 57 0 ENST00000216117.8:c.845C>T p.Ala282Val p.A282V ENST00000216117 NM_002133.2 282 gCt/gTt 0 -HNRNPA1 UCSF GRCh37 12 54677599 54677599 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 122 75 111 0 ENST00000340913.6:c.911G>A p.Ser304Asn p.S304N ENST00000340913 NM_002136.2 304 aGc/aAc 0 -HOGA1 UCSF GRCh37 10 99359865 99359865 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 16 58 0 ENST00000370646.4:c.645G>A p.Gln215= p.Q215= ENST00000370646 NM_138413.3 215 caG/caA 0 -HOMEZ UCSF GRCh37 14 23745354 23745354 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 123 16 72 0 ENST00000357460.5:c.1083G>A p.Lys361= p.K361= ENST00000357460 NM_020834.2 361 aaG/aaA 0 -HOOK2 UCSF GRCh37 19 12881784 12881784 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 4 17 0 ENST00000397668.3:c.864G>A p.Gln288= p.Q288= ENST00000397668 NM_013312.2 288 caG/caA 0 -HOOK3 UCSF GRCh37 8 42819560 42819560 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 16 107 0 ENST00000307602.4:c.722G>A p.Gly241Glu p.G241E ENST00000307602 NM_032410.3 241 gGa/gAa 0 -HOXA4 UCSF GRCh37 7 27169181 27169181 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 20 24 0 ENST00000360046.5:c.626G>A p.Ser209Asn p.S209N ENST00000360046 NM_002141.4 209 aGt/aAt 0 -HOXB13 UCSF GRCh37 17 46804157 46804157 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 27 35 0 ENST00000290295.7:c.850C>T p.Pro284Ser p.P284S ENST00000290295 NM_006361.5 284 Cct/Tct 0 -HOXC5 UCSF GRCh37 12 54426994 54426994 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 6 39 0 ENST00000312492.2:c.88G>A p.Ala30Thr p.A30T ENST00000312492 NM_018953.2 30 Gcc/Acc 0 -HPD UCSF GRCh37 12 122284968 122284968 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 21 58 0 ENST00000289004.4:c.749C>T p.Ser250Phe p.S250F ENST00000289004 NM_002150.2 250 tCc/tTc 0 -HR UCSF GRCh37 8 21979143 21979143 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 11 20 0 ENST00000381418.4:c.2186C>T p.Thr729Ile p.T729I ENST00000381418 NM_005144.4 729 aCc/aTc 0 -HSF4 UCSF GRCh37 16 67201407 67201407 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 33 38 0 ENST00000264009.8:c.759C>T p.Ser253= p.S253= ENST00000264009 NM_001040667.2 253 agC/agT 0 -HSPA5 UCSF GRCh37 9 127998941 127998941 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 101 33 76 0 ENST00000324460.6:c.1895G>A p.Ser632Asn p.S632N ENST00000324460 NM_005347.4 632 aGc/aAc 0 -HSPG2 UCSF GRCh37 1 22203049 22203049 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 6 11 0 ENST00000374695.3:c.2782G>A p.Gly928Ser p.G928S ENST00000374695 NM_005529.5 928 Ggt/Agt 0 -HSPH1 UCSF GRCh37 13 31712963 31712963 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 33 93 0 ENST00000320027.5:c.2163G>A p.Gln721= p.Q721= ENST00000320027 NM_006644.2 721 caG/caA 0 -HYDIN UCSF GRCh37 16 70902603 70902603 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 15 44 0 ENST00000393567.2:c.11180G>A p.Arg3727Lys p.R3727K ENST00000393567 NM_001270974.1 3727 aGg/aAg 0 -HYOU1 UCSF GRCh37 11 118923365 118923365 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 8 15 0 ENST00000404233.3:c.971C>T p.Ala324Val p.A324V ENST00000404233 NM_001130991.1 324 gCt/gTt 0 -IARS2 UCSF GRCh37 1 220307830 220307830 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 16 51 0 ENST00000302637.5:c.1924G>A p.Ala642Thr p.A642T ENST00000302637 NM_018060.3 642 Gca/Aca 0 -IBTK UCSF GRCh37 6 82882227 82882227 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 10 84 0 ENST00000306270.7:c.3800C>T p.Pro1267Leu p.P1267L ENST00000306270 NM_015525.2 1267 cCc/cTc 0 -ICK UCSF GRCh37 6 52870001 52870001 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 22 51 0 ENST00000356971.3:c.1845C>T p.Ala615= p.A615= ENST00000356971 NM_016513.4 615 gcC/gcT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 47 22 74 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IFFO1 UCSF GRCh37 12 6649714 6649714 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 4 15 0 ENST00000356896.4:c.1627C>T p.Pro543Ser p.P543S ENST00000356896 NM_001039670.2 543 Ccg/Tcg 0 -IFT122 UCSF GRCh37 3 129195505 129195505 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 4 47 0 ENST00000296266.3:c.1162-1G>A p.X388_splice ENST00000296266 NM_052985.3 0 -IGF2BP3 UCSF GRCh37 7 23358756 23358756 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 94 13 104 0 ENST00000258729.3:c.1320+1G>A p.X440_splice ENST00000258729 NM_006547.2 0 -IGFBP3 UCSF GRCh37 7 45956908 45956908 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 35 42 0 ENST00000381083.4:c.552G>A p.Gly184= p.G184= ENST00000381083 184 ggG/ggA 0 -IGFBP5 UCSF GRCh37 2 217543670 217543670 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 14 25 0 ENST00000233813.4:c.470G>A p.Arg157Lys p.R157K ENST00000233813 NM_000599.3 157 aGa/aAa 0 -IGSF10 UCSF GRCh37 3 151166242 151166242 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 63 105 0 ENST00000282466.3:c.1527G>A p.Trp509Ter p.W509* ENST00000282466 NM_178822.4 509 tgG/tgA 0 -IGSF21 UCSF GRCh37 1 18692125 18692125 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 8 23 0 ENST00000251296.1:c.949G>A p.Ala317Thr p.A317T ENST00000251296 NM_032880.4 317 Gcc/Acc 0 -IGSF3 UCSF GRCh37 1 117131413 117131413 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 9 12 0 ENST00000369483.1:c.2403C>T p.Tyr801= p.Y801= ENST00000369483 NM_001542.3 801 taC/taT 0 -IGSF5 UCSF GRCh37 21 41142851 41142851 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 8 42 0 ENST00000380588.4:c.427G>A p.Glu143Lys p.E143K ENST00000380588 NM_001080444.1 143 Gag/Aag 0 -IKBKB UCSF GRCh37 8 42179941 42179941 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 56 41 49 0 ENST00000520810.1:c.1915G>A p.Asp639Asn p.D639N ENST00000520810 NM_001556.2 639 Gat/Aat 0 -IL12RB2 UCSF GRCh37 1 67796484 67796484 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 75 69 120 0 ENST00000262345.1:c.949C>T p.Pro317Ser p.P317S ENST00000262345 NM_001559.2 317 Cca/Tca 0 -IL13RA2 UCSF GRCh37 X 114245322 114245322 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 7 64 0 ENST00000371936.1:c.591C>T p.Cys197= p.C197= ENST00000371936 197 tgC/tgT 0 -IL1R1 UCSF GRCh37 2 102789257 102789257 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 19 77 0 ENST00000410023.1:c.950C>T p.Thr317Ile p.T317I ENST00000410023 317 aCa/aTa 0 -IL1R2 UCSF GRCh37 2 102626154 102626154 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 40 96 0 ENST00000332549.3:c.198C>T p.Asn66= p.N66= ENST00000332549 NM_004633.3 66 aaC/aaT 0 -IL1RAPL2 UCSF GRCh37 X 104728355 104728355 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 5 41 0 ENST00000372582.1:c.748C>T p.Pro250Ser p.P250S ENST00000372582 NM_017416.1 250 Cca/Tca 0 -IL1RN UCSF GRCh37 2 113885288 113885288 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 30 53 0 ENST00000259206.5:c.96G>A p.Gly32= p.G32= ENST00000259206 NM_173841.2 32 ggG/ggA 0 -IL26 UCSF GRCh37 12 68618974 68618974 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 91 11 102 0 ENST00000229134.4:c.318C>T p.Arg106= p.R106= ENST00000229134 NM_018402.1 106 cgC/cgT 0 -IL2RA UCSF GRCh37 10 6063440 6063440 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 22 49 0 ENST00000379959.3:c.583+1G>A p.X195_splice ENST00000379959 NM_000417.2 0 -IL3 UCSF GRCh37 5 131398045 131398045 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 142 40 97 0 ENST00000296870.2:c.245G>A p.Arg82Lys p.R82K ENST00000296870 NM_000588.3 82 aGg/aAg 0 -IL36B UCSF GRCh37 2 113788669 113788669 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 27 58 0 ENST00000259213.4:c.77G>A p.Gly26Glu p.G26E ENST00000259213 NM_014438.4 26 gGa/gAa 0 -IL6R UCSF GRCh37 1 154401885 154401885 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 5 21 0 ENST00000368485.3:c.299G>A p.Gly100Asp p.G100D ENST00000368485 NM_000565.3 100 gGc/gAc 0 -IMP5 UCSF GRCh37 17 43922988 43922988 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 17 28 0 ENST00000329196.5:c.716C>T p.Ala239Val p.A239V ENST00000329196 NM_175882.2 239 gCc/gTc 0 -INPP5D UCSF GRCh37 2 234085968 234085968 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 30 61 0 ENST00000359570.5:c.2011G>A p.Val671Met p.V671M ENST00000359570 671 Gtg/Atg 0 -INPP5F UCSF GRCh37 10 121586293 121586293 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 25 119 0 ENST00000361976.2:c.2400C>T p.Leu800= p.L800= ENST00000361976 NM_014937.3 800 ctC/ctT 0 -INPPL1 UCSF GRCh37 11 71942216 71942216 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 16 50 0 ENST00000298229.2:c.1480G>A p.Asp494Asn p.D494N ENST00000298229 NM_001567.3 494 Gat/Aat 0 -INSM2 UCSF GRCh37 14 36004874 36004874 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 9 13 0 ENST00000307169.3:c.1416C>T p.Cys472= p.C472= ENST00000307169 NM_032594.3 472 tgC/tgT 0 -INSRR UCSF GRCh37 1 156819111 156819111 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 21 31 0 ENST00000368195.3:c.1371G>A p.Glu457= p.E457= ENST00000368195 NM_014215.2 457 gaG/gaA 0 -INTS1 UCSF GRCh37 7 1523477 1523477 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 5 25 0 ENST00000404767.3:c.3442G>A p.Asp1148Asn p.D1148N ENST00000404767 NM_001080453.2 1148 Gac/Aac 0 -IP6K3 UCSF GRCh37 6 33690912 33690912 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 76 9 44 0 ENST00000451316.1:c.818G>A p.Arg273Lys p.R273K ENST00000451316 NM_001142883.1 273 aGa/aAa 0 -IPO11 UCSF GRCh37 5 61762983 61762983 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 28 97 0 ENST00000409296.3:c.662C>T p.Ala221Val p.A221V ENST00000409296 NM_001134779.1 221 gCc/gTc 0 -IPO9 UCSF GRCh37 1 201823974 201823974 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 8 68 0 ENST00000361565.4:c.834C>T p.Asn278= p.N278= ENST00000361565 NM_018085.4 278 aaC/aaT 0 -IRAK3 UCSF GRCh37 12 66620604 66620604 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 109 26 130 0 ENST00000261233.4:c.755G>A p.Arg252Lys p.R252K ENST00000261233 NM_007199.2 252 aGa/aAa 0 -IREB2 UCSF GRCh37 15 78758799 78758799 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 6 78 0 ENST00000258886.8:c.597C>T p.Ile199= p.I199= ENST00000258886 NM_004136.2 199 atC/atT 0 -IRF2 UCSF GRCh37 4 185310032 185310032 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 13 71 0 ENST00000393593.3:c.930C>T p.Asp310= p.D310= ENST00000393593 NM_002199.3 310 gaC/gaT 0 -IRS4 UCSF GRCh37 X 107977413 107977413 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 60 7 39 0 ENST00000372129.2:c.2162C>T p.Ala721Val p.A721V ENST00000372129 NM_003604.2 721 gCt/gTt 0 -ISLR UCSF GRCh37 15 74467567 74467567 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 11 14 0 ENST00000249842.3:c.368C>T p.Ala123Val p.A123V ENST00000249842 NM_005545.3 123 gCc/gTc 0 -ISM1 UCSF GRCh37 20 13251231 13251231 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 38 86 0 ENST00000262487.4:c.219C>T p.Asp73= p.D73= ENST00000262487 NM_080826.1 73 gaC/gaT 0 -ITGA7 UCSF GRCh37 12 56092242 56092242 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 9 17 0 ENST00000553804.1:c.1129C>T p.Leu377Phe p.L377F ENST00000553804 NM_001144996.1 377 Ctc/Ttc 0 -ITGA8 UCSF GRCh37 10 15617487 15617487 + splice_donor_variant Splice_Site SNP C C A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 10 38 1 ENST00000378076.3:c.2478+1G>T p.X826_splice ENST00000378076 NM_003638.1 0 -ITGA8 UCSF GRCh37 10 15639251 15639251 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 13 104 0 ENST00000378076.3:c.2166G>A p.Arg722= p.R722= ENST00000378076 NM_003638.1 722 agG/agA 0 -ITGAD UCSF GRCh37 16 31419115 31419115 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 9 25 0 ENST00000389202.2:c.887C>T p.Ala296Val p.A296V ENST00000389202 NM_005353.2 296 gCc/gTc 0 -ITGAL UCSF GRCh37 16 30507834 30507834 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 22 30 0 ENST00000356798.6:c.1779G>A p.Gly593= p.G593= ENST00000356798 NM_002209.2 593 ggG/ggA 0 -ITGAL UCSF GRCh37 16 30529162 30529162 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 9 43 0 ENST00000356798.6:c.3078G>A p.Arg1026= p.R1026= ENST00000356798 NM_002209.2 1026 agG/agA 0 -ITGAX UCSF GRCh37 16 31366602 31366602 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 3 14 0 ENST00000268296.4:c.27C>T p.Leu9= p.L9= ENST00000268296 NM_000887.3 9 ctC/ctT 0 -ITGB2 UCSF GRCh37 21 46311833 46311833 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 7 9 14 0 ENST00000397850.2:c.1303G>A p.Asp435Asn p.D435N ENST00000397850 435 Gac/Aac 0 -ITPKA UCSF GRCh37 15 41794648 41794648 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 12 13 0 ENST00000260386.5:c.1057G>A p.Glu353Lys p.E353K ENST00000260386 NM_002220.2 353 Gag/Aag 0 -IYD UCSF GRCh37 6 150713488 150713488 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 81 50 116 0 ENST00000229447.5:c.378C>T p.Ala126= p.A126= ENST00000229447 NM_001164694.1 126 gcC/gcT 0 -JAKMIP1 UCSF GRCh37 4 6043926 6043926 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 49 76 0 ENST00000409021.3:c.2057C>T p.Ala686Val p.A686V ENST00000409021 NM_001099433.1 686 gCc/gTc 0 -JAKMIP1 UCSF GRCh37 4 6080714 6080714 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 10 21 0 ENST00000409021.3:c.1254G>A p.Arg418= p.R418= ENST00000409021 NM_001099433.1 418 cgG/cgA 0 -JMJD1C UCSF GRCh37 10 64958453 64958453 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 31 75 0 ENST00000399262.2:c.5311G>A p.Asp1771Asn p.D1771N ENST00000399262 NM_032776.1 1771 Gat/Aat 0 -JRKL UCSF GRCh37 11 96123920 96123920 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 91 21 71 0 ENST00000458427.1:c.107G>A p.Gly36Glu p.G36E ENST00000458427 NM_003772.3 36 gGa/gAa 0 -KANK1 UCSF GRCh37 9 732573 732573 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 42 94 0 ENST00000382303.1:c.3201G>A p.Met1067Ile p.M1067I ENST00000382303 NM_001256876.1 1067 atG/atA 0 -KAT5 UCSF GRCh37 11 65480933 65480933 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 4 14 0 ENST00000341318.4:c.499C>T p.Leu167Phe p.L167F ENST00000341318 NM_182710.2 167 Ctc/Ttc 0 -KCMF1 UCSF GRCh37 2 85276592 85276592 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 69 76 0 ENST00000409785.4:c.705G>A p.Gln235= p.Q235= ENST00000409785 NM_020122.4 235 caG/caA 0 -KCNC1 UCSF GRCh37 11 17794140 17794140 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 21 96 0 ENST00000265969.6:c.1499G>A p.Arg500Lys p.R500K ENST00000265969 NM_001112741.1 500 aGa/aAa 0 -KCNC4 UCSF GRCh37 1 110765873 110765873 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 10 32 0 ENST00000369787.3:c.966C>T p.Ile322= p.I322= ENST00000369787 NM_004978.4 322 atC/atT 0 -KCNE1 UCSF GRCh37 21 35821789 35821789 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 12 19 0 ENST00000337385.3:c.144C>T p.Leu48= p.L48= ENST00000337385 NM_001270403.1 48 ctC/ctT 0 -KCNH2 UCSF GRCh37 7 150648065 150648065 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 7 14 0 ENST00000262186.5:c.2089C>T p.Leu697Phe p.L697F ENST00000262186 NM_000238.3 697 Ctc/Ttc 0 -KCNH6 UCSF GRCh37 17 61613299 61613299 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 3 16 0 ENST00000583023.1:c.1371C>T p.Pro457= p.P457= ENST00000583023 NM_030779.3 457 ccC/ccT 0 -KCNJ1 UCSF GRCh37 11 128709396 128709396 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 37 81 0 ENST00000392664.2:c.800C>T p.Thr267Ile p.T267I ENST00000392664 NM_000220.4 267 aCa/aTa 0 -KCNJ13 UCSF GRCh37 2 233633281 233633281 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 103 18 90 0 ENST00000233826.3:c.703C>T p.Pro235Ser p.P235S ENST00000233826 NM_002242.4 235 Cca/Tca 0 -KCNJ5 UCSF GRCh37 11 128781514 128781514 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 60 12 78 0 ENST00000529694.1:c.346G>A p.Gly116Ser p.G116S ENST00000529694 NM_000890.3 116 Ggt/Agt 0 -KCNK3 UCSF GRCh37 2 26950561 26950561 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 26 57 0 ENST00000302909.3:c.310G>A p.Asp104Asn p.D104N ENST00000302909 NM_002246.2 104 Gat/Aat 0 -KCNK6 UCSF GRCh37 19 38817548 38817548 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 18 57 0 ENST00000263372.3:c.638C>T p.Ser213Phe p.S213F ENST00000263372 NM_004823.1 213 tCc/tTc 0 -KCNK6 UCSF GRCh37 19 38817379 38817379 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 30 61 0 ENST00000263372.3:c.469C>T p.Leu157= p.L157= ENST00000263372 NM_004823.1 157 Ctg/Ttg 0 -KCNMA1 UCSF GRCh37 10 79397125 79397125 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 5 9 0 ENST00000404857.1:c.276C>T p.Ala92= p.A92= ENST00000404857 NM_001161353.1 92 gcC/gcT 0 -KCNQ3 UCSF GRCh37 8 133192525 133192525 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 5 26 0 ENST00000388996.4:c.656G>A p.Gly219Asp p.G219D ENST00000388996 NM_004519.3 219 gGc/gAc 0 -KCTD18 UCSF GRCh37 2 201369581 201369581 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 9 60 0 ENST00000359878.3:c.262C>T p.Leu88= p.L88= ENST00000359878 NM_152387.2 88 Cta/Tta 0 -KDM6B UCSF GRCh37 17 7755606 7755606 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 3 23 0 ENST00000254846.5:c.4420G>A p.Ala1474Thr p.A1474T ENST00000254846 NM_001080424.1 1474 Gcc/Acc 0 -KDM6B UCSF GRCh37 17 7750671 7750671 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 13 18 0 ENST00000254846.5:c.1158C>T p.Ala386= p.A386= ENST00000254846 NM_001080424.1 386 gcC/gcT 0 -KHDRBS1 UCSF GRCh37 1 32503455 32503455 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 43 87 0 ENST00000327300.7:c.925C>T p.Pro309Ser p.P309S ENST00000327300 NM_006559.2 309 Cct/Tct 0 -KHDRBS1 UCSF GRCh37 1 32498872 32498872 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 24 69 0 ENST00000327300.7:c.708C>T p.Pro236= p.P236= ENST00000327300 NM_006559.2 236 ccC/ccT 0 -KHDRBS2 UCSF GRCh37 6 62611213 62611213 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 27 79 0 ENST00000281156.4:c.547G>A p.Asp183Asn p.D183N ENST00000281156 NM_152688.2 183 Gac/Aac 0 -KHSRP UCSF GRCh37 19 6416415 6416415 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 9 12 0 ENST00000398148.3:c.1492C>T p.Pro498Ser p.P498S ENST00000398148 NM_003685.2 498 Cct/Tct 0 -BLTP2 UCSF GRCh37 17 26962186 26962186 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 77 54 126 1 ENST00000528896.2:c.2419C>T p.Pro807Ser p.P807S ENST00000528896 NM_014680.3 807 Cct/Tct 0 -KIAA0226 UCSF GRCh37 3 197401911 197401911 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 3 19 0 ENST00000296343.5:c.2897C>T p.Ala966Val p.A966V ENST00000296343 NM_014687.1 966 gCc/gTc 0 -KIAA0319L UCSF GRCh37 1 35972241 35972241 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 108 27 108 0 ENST00000325722.3:c.638G>A p.Gly213Asp p.G213D ENST00000325722 NM_024874.4 213 gGt/gAt 0 -KIAA0513 UCSF GRCh37 16 85121913 85121913 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 21 36 0 ENST00000566428.1:c.1218G>A p.Glu406= p.E406= ENST00000566428 NM_001286565.1 406 gaG/gaA 0 -KIAA0564 UCSF GRCh37 13 42164844 42164844 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 32 58 0 ENST00000379310.3:c.5044G>A p.Ala1682Thr p.A1682T ENST00000379310 NM_015058.1 1682 Gcc/Acc 0 -KIAA0586 UCSF GRCh37 14 58965622 58965622 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 89 24 100 0 ENST00000354386.6:c.4271C>T p.Ser1424Phe p.S1424F ENST00000354386 NM_001244189.1 1424 tCt/tTt 0 -KIAA1033 UCSF GRCh37 12 105527557 105527557 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 67 120 0 ENST00000332180.5:c.1209G>A p.Gln403= p.Q403= ENST00000332180 NM_015275.1 403 caG/caA 0 -KIAA1191 UCSF GRCh37 5 175777694 175777694 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 28 33 0 ENST00000298569.4:c.381G>A p.Leu127= p.L127= ENST00000298569 NM_020444.3 127 ctG/ctA 0 -KIAA1239 UCSF GRCh37 4 37327621 37327621 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 30 91 0 ENST00000309447.5:c.215G>A p.Arg72Lys p.R72K ENST00000309447 NM_001144990.1 72 aGa/aAa 0 -KIAA1244 UCSF GRCh37 6 138655542 138655542 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 30 35 0 ENST00000251691.4:c.5559G>A p.Gln1853= p.Q1853= ENST00000251691 NM_020340.4 1853 caG/caA 0 -KIAA1539 UCSF GRCh37 9 35107943 35107943 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 5 27 0 ENST00000378561.1:c.329G>A p.Gly110Glu p.G110E ENST00000378561 110 gGa/gAa 0 -KIAA1715 UCSF GRCh37 2 176804319 176804319 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 26 70 0 ENST00000272748.4:c.773G>A p.Arg258Lys p.R258K ENST00000272748 NM_030650.1 258 aGa/aAa 0 -KIAA1751 UCSF GRCh37 1 1887143 1887143 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 10 80 0 ENST00000493964.1:c.12G>A p.Glu4= p.E4= ENST00000493964 4 gaG/gaA 0 -KIAA1755 UCSF GRCh37 20 36867969 36867969 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 13 37 0 ENST00000279024.4:c.1708G>A p.Gly570Ser p.G570S ENST00000279024 NM_001029864.1 570 Ggt/Agt 0 -KIAA1755 UCSF GRCh37 20 36870058 36870058 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 14 77 0 ENST00000279024.4:c.475G>A p.Gly159Arg p.G159R ENST00000279024 NM_001029864.1 159 Gga/Aga 0 -KIAA1958 UCSF GRCh37 9 115422322 115422322 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 8 23 0 ENST00000337530.6:c.2124G>A p.Arg708= p.R708= ENST00000337530 NM_001287038.1 708 agG/agA 0 -KIF13B UCSF GRCh37 8 28984764 28984764 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 63 132 0 ENST00000524189.1:c.3097G>A p.Val1033Ile p.V1033I ENST00000524189 NM_015254.3 1033 Gtc/Atc 0 -KIF18A UCSF GRCh37 11 28058011 28058011 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 104 12 101 0 ENST00000263181.6:c.2149C>T p.Pro717Ser p.P717S ENST00000263181 NM_031217.3 717 Ccg/Tcg 0 -KIF1C UCSF GRCh37 17 4925549 4925549 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 8 15 0 ENST00000320785.5:c.2173G>A p.Val725Ile p.V725I ENST00000320785 NM_006612.5 725 Gtt/Att 0 -KIF2C UCSF GRCh37 1 45223768 45223768 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 27 49 0 ENST00000372224.4:c.1180G>A p.Gly394Ser p.G394S ENST00000372224 NM_006845.3 394 Ggc/Agc 0 -KIF3C UCSF GRCh37 2 26204031 26204031 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 7 10 15 0 ENST00000264712.3:c.756G>A p.Arg252= p.R252= ENST00000264712 NM_002254.6 252 agG/agA 0 -KIF4A UCSF GRCh37 X 69561757 69561757 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 8 45 0 ENST00000374403.3:c.1242C>T p.Ala414= p.A414= ENST00000374403 NM_012310.4 414 gcC/gcT 0 -KLHDC2 UCSF GRCh37 14 50247481 50247481 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 56 25 101 0 ENST00000298307.5:c.944C>T p.Thr315Ile p.T315I ENST00000298307 NM_014315.2 315 aCc/aTc 0 -KLHL13 UCSF GRCh37 X 117053549 117053549 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 46 68 0 ENST00000539496.1:c.514G>A p.Glu172Lys p.E172K ENST00000539496 NM_001168299.1 172 Gaa/Aaa 0 -KLHL25 UCSF GRCh37 15 86312642 86312642 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 5 21 0 ENST00000337975.5:c.400G>A p.Asp134Asn p.D134N ENST00000337975 NM_022480.3 134 Gat/Aat 0 -KLK7 UCSF GRCh37 19 51483713 51483713 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 6 10 18 0 ENST00000391807.1:c.252G>A p.Thr84= p.T84= ENST00000391807 NM_139277.2 84 acG/acA 0 -KLRAQ1 UCSF GRCh37 2 48718230 48718230 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 37 79 0 ENST00000294952.8:c.1520G>A p.Gly507Glu p.G507E ENST00000294952 NM_001135629.2 507 gGa/gAa 0 -KLRC4-KLRK1 UCSF GRCh37 12 10525748 10525748 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 36 66 0 ENST00000240618.6:c.616C>T p.Pro206Ser p.P206S ENST00000240618 NM_007360.3 206 Cca/Tca 0 -KRBA2 UCSF GRCh37 17 8273222 8273222 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 95 21 74 0 ENST00000331336.2:c.709C>T p.Gln237Ter p.Q237* ENST00000331336 NM_213597.2 237 Cag/Tag 0 -KREMEN1 UCSF GRCh37 22 29533386 29533386 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 64 10 45 0 ENST00000327813.5:c.688C>T p.Pro230Ser p.P230S ENST00000327813 NM_032045.4 230 Cct/Tct 0 -KRI1 UCSF GRCh37 19 10672368 10672368 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 12 70 0 ENST00000312962.6:c.481G>A p.Glu161Lys p.E161K ENST00000312962 NM_023008.3 161 Gag/Aag 0 -KRT31 UCSF GRCh37 17 39552765 39552765 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 23 13 33 0 ENST00000251645.2:c.495C>T p.Ile165= p.I165= ENST00000251645 NM_002277.2 165 atC/atT 0 -KRT34 UCSF GRCh37 17 39534360 39534360 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 10 33 0 ENST00000394001.1:c.1262G>A p.Gly421Asp p.G421D ENST00000394001 NM_021013.3 421 gGc/gAc 0 -KRT5 UCSF GRCh37 12 52909602 52909602 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 25 70 0 ENST00000252242.4:c.1454G>A p.Gly485Glu p.G485E ENST00000252242 NM_000424.3 485 gGa/gAa 0 -KRT6B UCSF GRCh37 12 52845458 52845458 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 80 33 73 0 ENST00000252252.3:c.405C>T p.Ile135= p.I135= ENST00000252252 NM_005555.3 135 atC/atT 0 -KRT85 UCSF GRCh37 12 52756677 52756677 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 28 46 0 ENST00000257901.3:c.1038C>T p.Ile346= p.I346= ENST00000257901 NM_002283.3 346 atC/atT 0 -KRTAP1-5 UCSF GRCh37 17 39183012 39183012 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 5 28 0 ENST00000361883.5:c.396C>T p.Pro132= p.P132= ENST00000361883 NM_031957.1 132 ccC/ccT 0 -KRTAP10-7 UCSF GRCh37 21 46021353 46021353 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 73 12 54 0 ENST00000380102.2:c.832C>T p.Pro278Ser p.P278S ENST00000380102 NM_198689.2 278 Cct/Tct 0 -KRTAP5-4 UCSF GRCh37 11 1642838 1642838 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 12 48 0 ENST00000399682.1:c.486G>A p.Lys162= p.K162= ENST00000399682 NM_001012709.1 162 aaG/aaA 0 -KRTAP6-3 UCSF GRCh37 21 31965042 31965042 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 9 22 0 ENST00000391624.1:c.257G>A p.Gly86Asp p.G86D ENST00000391624 NM_181605.3 86 gGc/gAc 0 -KSR1 UCSF GRCh37 17 25932612 25932612 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 3 11 0 ENST00000398988.3:c.1422G>A p.Glu474= p.E474= ENST00000398988 NM_014238.1 474 gaG/gaA 0 -LAMA1 UCSF GRCh37 18 6999530 6999530 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 7 23 0 ENST00000389658.3:c.4577G>A p.Gly1526Glu p.G1526E ENST00000389658 NM_005559.3 1526 gGg/gAg 0 -LAMA1 UCSF GRCh37 18 7034641 7034641 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 24 78 0 ENST00000389658.3:c.1888C>T p.Pro630Ser p.P630S ENST00000389658 NM_005559.3 630 Cct/Tct 0 -LAMA2 UCSF GRCh37 6 129636958 129636958 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 72 29 111 0 ENST00000421865.2:c.3787G>A p.Glu1263Lys p.E1263K ENST00000421865 NM_001079823.1 1263 Gaa/Aaa 0 -LAMA2 UCSF GRCh37 6 129581855 129581855 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 97 16 73 0 ENST00000421865.2:c.2097-1G>A p.X699_splice ENST00000421865 NM_001079823.1 0 -LAMB1 UCSF GRCh37 7 107621127 107621127 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 37 81 0 ENST00000222399.6:c.806G>A p.Gly269Glu p.G269E ENST00000222399 NM_002291.2 269 gGa/gAa 0 -LAMB1 UCSF GRCh37 7 107591753 107591753 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 9 21 0 ENST00000222399.6:c.3309C>T p.Cys1103= p.C1103= ENST00000222399 NM_002291.2 1103 tgC/tgT 0 -LAMC2 UCSF GRCh37 1 183184600 183184600 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 13 42 0 ENST00000264144.4:c.281C>T p.Ala94Val p.A94V ENST00000264144 NM_005562.2 94 gCt/gTt 0 -LANCL3 UCSF GRCh37 X 37515001 37515001 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 22 13 36 0 ENST00000378619.3:c.634T>C p.Tyr212His p.Y212H ENST00000378619 NM_001170331.1 212 Tat/Cat 0 -LARGE UCSF GRCh37 22 34157444 34157444 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 28 83 0 ENST00000354992.2:c.20G>A p.Gly7Glu p.G7E ENST00000354992 NM_004737.4 7 gGg/gAg 0 -LCAT UCSF GRCh37 16 67976808 67976808 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 9 39 0 ENST00000264005.5:c.383G>A p.Gly128Asp p.G128D ENST00000264005 NM_000229.1 128 gGc/gAc 0 -LCLAT1 UCSF GRCh37 2 30790968 30790968 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 16 86 0 ENST00000309052.4:c.668G>A p.Gly223Glu p.G223E ENST00000309052 NM_182551.3 223 gGa/gAa 0 -LCN10 UCSF GRCh37 9 139635381 139635381 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 6 17 0 ENST00000497771.1:c.382G>A p.Ala128Thr p.A128T ENST00000497771 NM_001001712.2 128 Gcc/Acc 0 -LCN2 UCSF GRCh37 9 130911921 130911921 + synonymous_variant Silent SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 59 14 23 0 ENST00000373017.1:c.117G>A p.Gln39= p.Q39= ENST00000373017 39 caG/caA 0 -LDHB UCSF GRCh37 12 21788613 21788613 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 59 21 63 0 ENST00000396076.1:c.868C>T p.Leu290= p.L290= ENST00000396076 NM_001174097.1 290 Ctg/Ttg 0 -LEO1 UCSF GRCh37 15 52252231 52252231 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 36 69 0 ENST00000299601.5:c.1025G>A p.Gly342Glu p.G342E ENST00000299601 NM_138792.2 342 gGa/gAa 0 -LFNG UCSF GRCh37 7 2552829 2552829 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 105 15 77 0 ENST00000402506.1:c.86G>A p.Arg29Lys p.R29K ENST00000402506 NM_001166355.1 29 aGg/aAg 0 -LGALS12 UCSF GRCh37 11 63283765 63283765 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 8 14 0 ENST00000340246.5:c.914G>A p.Gly305Glu p.G305E ENST00000340246 305 gGg/gAg 0 -LGALS3 UCSF GRCh37 14 55604841 55604841 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 15 27 0 ENST00000254301.9:c.97G>A p.Ala33Thr p.A33T ENST00000254301 NM_002306.3 33 Gca/Aca 0 -LGI1 UCSF GRCh37 10 95557376 95557376 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 83 11 103 0 ENST00000371418.4:c.1490C>T p.Ser497Phe p.S497F ENST00000371418 NM_005097.2 497 tCc/tTc 0 -LGI3 UCSF GRCh37 8 22006117 22006117 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 6 9 0 ENST00000306317.2:c.1203C>T p.Ile401= p.I401= ENST00000306317 NM_139278.2 401 atC/atT 0 -LIG1 UCSF GRCh37 19 48665530 48665530 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 23 155 0 ENST00000263274.7:c.96G>A p.Glu32= p.E32= ENST00000263274 NM_000234.1 32 gaG/gaA 0 -LIMK2 UCSF GRCh37 22 31668561 31668561 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 9 48 0 ENST00000340552.4:c.1366G>A p.Val456Met p.V456M ENST00000340552 NM_001031801.1 456 Gtg/Atg 0 -LIPE UCSF GRCh37 19 42911853 42911853 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 4 8 0 ENST00000244289.4:c.1747C>T p.Pro583Ser p.P583S ENST00000244289 NM_005357.2 583 Ccc/Tcc 0 -LLPH UCSF GRCh37 12 66517628 66517628 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 124 16 164 0 ENST00000266604.2:c.382G>A p.Ala128Thr p.A128T ENST00000266604 NM_032338.3 128 Gcc/Acc 0 -LNP1 UCSF GRCh37 3 100174747 100174747 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0011 P01_Rec Untested WXS Illumina HiSeq 47 12 116 0 ENST00000383693.3:c.514C>T p.Leu172= p.L172= ENST00000383693 NM_001085451.1 172 Ctg/Ttg 0 -LNX1 UCSF GRCh37 4 54424114 54424114 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 15 27 0 ENST00000263925.7:c.380+15676C>T *127* ENST00000263925 NM_001126328.2 0 -LOC100289561 UCSF GRCh37 7 102016320 102016320 + 5_prime_UTR_variant 5'UTR SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 47 72 0 ENST00000496391.1:c.-623G>A *208* ENST00000496391 0 -LOC200726 UCSF GRCh37 2 207509296 207509296 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 3 13 0 ENST00000543490.1:n.511C>T *171* ENST00000543490 0 -HLA-V UCSF GRCh37 6 29759888 29759888 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 15 23 0 ENST00000320533.2:n.961G>A *321* ENST00000320533 0 -LPA UCSF GRCh37 6 160968838 160968838 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 86 11 89 0 ENST00000447678.1:c.5287G>A p.Ala1763Thr p.A1763T ENST00000447678 NM_005577.2 1763 Gca/Aca 0 -LPA UCSF GRCh37 6 161026196 161026196 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 95 151 0 ENST00000447678.1:c.2827G>A p.Gly943Arg p.G943R ENST00000447678 NM_005577.2 943 Gga/Aga 0 -LPCAT4 UCSF GRCh37 15 34657243 34657243 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 13 27 0 ENST00000314891.6:c.444C>T p.Ser148= p.S148= ENST00000314891 NM_153613.2 148 tcC/tcT 0 -LPHN2 UCSF GRCh37 1 82435041 82435041 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 73 57 111 0 ENST00000319517.6:c.2652C>T p.Phe884= p.F884= ENST00000319517 NM_012302.2 884 ttC/ttT 0 -LPHN3 UCSF GRCh37 4 62758677 62758677 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 17 56 0 ENST00000514591.1:c.1579+1G>A p.X527_splice ENST00000514591 0 -LPIN1 UCSF GRCh37 2 11922351 11922351 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 84 32 82 0 ENST00000449576.2:c.1129G>A p.Glu377Lys p.E377K ENST00000449576 NM_001261428.1 377 Gag/Aag 0 -LRBA UCSF GRCh37 4 151765869 151765869 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 7 30 77 0 ENST00000357115.3:c.4402G>A p.Gly1468Arg p.G1468R ENST00000357115 NM_006726.4 1468 Gga/Aga 0 -LRBA UCSF GRCh37 4 151818947 151818947 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 6 43 0 ENST00000357115.3:c.1948G>A p.Glu650Lys p.E650K ENST00000357115 NM_006726.4 650 Gaa/Aaa 0 -LRFN3 UCSF GRCh37 19 36431118 36431118 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0018 P01_Rec Untested WXS Illumina HiSeq 17 9 10 0 ENST00000588831.1:c.791C>T p.Ala264Val p.A264V ENST00000588831 264 gCg/gTg 0 -LRIF1 UCSF GRCh37 1 111494283 111494283 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 127 76 137 0 ENST00000369763.4:c.1223C>T p.Ser408Phe p.S408F ENST00000369763 NM_018372.3 408 tCc/tTc 0 -LRIG1 UCSF GRCh37 3 66434672 66434672 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 28 74 0 ENST00000273261.3:c.1814C>T p.Pro605Leu p.P605L ENST00000273261 NM_015541.2 605 cCc/cTc 0 -LRIG2 UCSF GRCh37 1 113655109 113655109 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 90 57 110 0 ENST00000361127.5:c.1807T>C p.Ser603Pro p.S603P ENST00000361127 NM_014813.1 603 Tct/Cct 0 -LRIT2 UCSF GRCh37 10 85982122 85982122 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 18 28 0 ENST00000372113.4:c.1207G>A p.Ala403Thr p.A403T ENST00000372113 NM_001017924.2 403 Gcc/Acc 0 -LRP2 UCSF GRCh37 2 170094605 170094605 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 19 39 0 ENST00000263816.3:c.4502G>A p.Arg1501Lys p.R1501K ENST00000263816 NM_004525.2 1501 aGa/aAa 0 -LRRC39 UCSF GRCh37 1 100620671 100620671 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 30 130 0 ENST00000370138.1:c.748C>T p.Leu250Phe p.L250F ENST00000370138 NM_001256385.1 250 Ctt/Ttt 0 -LRRC39 UCSF GRCh37 1 100620731 100620731 + missense_variant Missense_Mutation SNP G G C NOVEL P01_Rec Untested WXS Illumina HiSeq 33 9 74 1 ENST00000370138.1:c.688C>G p.Gln230Glu p.Q230E ENST00000370138 NM_001256385.1 230 Caa/Gaa 0 -LRRFIP1 UCSF GRCh37 2 238672239 238672240 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 0 ENST00000392000.4:c.1886dup p.Asn629LysfsTer12 p.N629Kfs*12 ENST00000392000 NM_001137552.1 628 gaa/gaAa 0 -LTF UCSF GRCh37 3 46492162 46492162 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 6 14 33 0 ENST00000231751.4:c.705G>A p.Glu235= p.E235= ENST00000231751 NM_002343.3 235 gaG/gaA 0 -LUZP1 UCSF GRCh37 1 23418565 23418565 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 101 63 109 0 ENST00000302291.4:c.2190C>T p.Leu730= p.L730= ENST00000302291 730 ctC/ctT 0 -LYG2 UCSF GRCh37 2 99870748 99870748 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 11 54 0 ENST00000333017.2:c.-25G>A p.X9_splice ENST00000333017 NM_175735.3 0 -LYPD3 UCSF GRCh37 19 43965763 43965763 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 3 17 0 ENST00000244333.3:c.781G>A p.Ala261Thr p.A261T ENST00000244333 NM_014400.2 261 Gcc/Acc 0 -LYST UCSF GRCh37 1 235933476 235933476 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 48 100 0 ENST00000389794.3:c.5906C>T p.Thr1969Ile p.T1969I ENST00000389794 1969 aCt/aTt 0 -MACC1 UCSF GRCh37 7 20199857 20199857 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 64 13 65 0 ENST00000400331.5:c.127C>T p.Pro43Ser p.P43S ENST00000400331 NM_182762.3 43 Cca/Tca 0 -MACC1 UCSF GRCh37 7 20193893 20193893 + synonymous_variant Silent SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 44 32 58 0 ENST00000400331.5:c.2269T>C p.Leu757= p.L757= ENST00000400331 NM_182762.3 757 Tta/Cta 0 -MADD UCSF GRCh37 11 47305933 47305933 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 13 50 0 ENST00000311027.5:c.1974C>T p.Asp658= p.D658= ENST00000311027 NM_003682.3 658 gaC/gaT 0 -MAGEC1 UCSF GRCh37 X 140994939 140994939 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 87 57 0 ENST00000285879.4:c.1749C>T p.Ser583= p.S583= ENST00000285879 NM_005462.4 583 agC/agT 0 -MAGI1 UCSF GRCh37 3 65416464 65416464 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 10 68 0 ENST00000402939.2:c.1456G>A p.Val486Met p.V486M ENST00000402939 NM_001033057.1 486 Gtg/Atg 0 -MAGI1 UCSF GRCh37 3 65456070 65456070 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 12 66 0 ENST00000402939.2:c.847C>T p.Pro283Ser p.P283S ENST00000402939 NM_001033057.1 283 Cct/Tct 0 -MAML1 UCSF GRCh37 5 179201692 179201692 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 12 33 0 ENST00000292599.3:c.2865G>A p.Leu955= p.L955= ENST00000292599 NM_014757.4 955 ctG/ctA 0 -MAML3 UCSF GRCh37 4 140812018 140812018 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 14 81 0 ENST00000509479.2:c.572G>A p.Arg191Gln p.R191Q ENST00000509479 NM_018717.4 191 cGa/cAa 0 -MAMLD1 UCSF GRCh37 X 149638978 149638978 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 9 38 29 0 ENST00000432680.2:c.1058G>A p.Ser353Asn p.S353N ENST00000432680 NM_001177465.2 353 aGc/aAc 0 -MAN1B1 UCSF GRCh37 9 139995469 139995469 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 122 20 39 0 ENST00000371589.4:c.929C>T p.Ala310Val p.A310V ENST00000371589 NM_016219.4 310 gCc/gTc 0 -MAP1B UCSF GRCh37 5 71492237 71492237 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 17 34 0 ENST00000296755.7:c.3055G>A p.Glu1019Lys p.E1019K ENST00000296755 NM_005909.3 1019 Gag/Aag 0 -MAP1B UCSF GRCh37 5 71492669 71492669 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 44 8 46 0 ENST00000296755.7:c.3487A>G p.Thr1163Ala p.T1163A ENST00000296755 NM_005909.3 1163 Acc/Gcc 0 -MAP2K1 UCSF GRCh37 15 66735651 66735651 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 21 64 0 ENST00000307102.5:c.472G>A p.Ala158Thr p.A158T ENST00000307102 NM_002755.3 158 Gct/Act 0 -MAP2K5 UCSF GRCh37 15 67873162 67873162 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 80 10 107 0 ENST00000178640.5:c.322+1G>A p.X108_splice ENST00000178640 NM_145160.2 0 -MAP3K1 UCSF GRCh37 5 56178158 56178158 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 79 12 102 0 ENST00000399503.3:c.3131C>T p.Pro1044Leu p.P1044L ENST00000399503 NM_005921.1 1044 cCa/cTa 0 -MAP3K14 UCSF GRCh37 17 43364087 43364087 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 7 24 0 ENST00000344686.2:n.969C>T *323* ENST00000344686 0 -MAP3K9 UCSF GRCh37 14 71197444 71197444 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 11 31 0 ENST00000555993.2:c.3010G>A p.Glu1004Lys p.E1004K ENST00000555993 NM_033141.2 1004 Gag/Aag 0 -MAPK8IP3 UCSF GRCh37 16 1817179 1817179 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 6 18 0 ENST00000250894.4:c.3115C>T p.Leu1039= p.L1039= ENST00000250894 NM_015133.3 1039 Cta/Tta 0 -MARCH3 UCSF GRCh37 5 126214081 126214081 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 10 14 0 ENST00000308660.5:c.399G>A p.Leu133= p.L133= ENST00000308660 NM_178450.4 133 ctG/ctA 0 -MARK1 UCSF GRCh37 1 220805553 220805553 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 121 24 165 0 ENST00000366917.4:c.1020C>T p.Val340= p.V340= ENST00000366917 NM_001286124.1 340 gtC/gtT 0 -MASP1 UCSF GRCh37 3 186961306 186961306 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 7 73 0 ENST00000296280.6:c.1194G>A p.Gln398= p.Q398= ENST00000296280 NM_139125.3 398 caG/caA 0 -MAT1A UCSF GRCh37 10 82036304 82036304 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 42 46 0 ENST00000372213.3:c.596G>A p.Arg199His p.R199H ENST00000372213 NM_000429.2 199 cGc/cAc 0 -MBD2 UCSF GRCh37 18 51729304 51729304 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 129 17 92 0 ENST00000256429.3:c.702+2064C>T *234* ENST00000256429 NM_003927.4 0 -MCTS1 UCSF GRCh37 X 119742162 119742162 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 8 43 0 ENST00000371315.3:c.348C>T p.Gly116= p.G116= ENST00000371315 NM_001137554.1 116 ggC/ggT 0 -MDGA1 UCSF GRCh37 6 37612308 37612308 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 7 21 0 ENST00000434837.3:c.2366C>T p.Thr789Ile p.T789I ENST00000434837 NM_153487.3 789 aCt/aTt 0 -MDM1 UCSF GRCh37 12 68724946 68724946 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 116 58 138 0 ENST00000303145.7:c.74C>T p.Ser25Phe p.S25F ENST00000303145 NM_017440.4 25 tCt/tTt 0 -MDN1 UCSF GRCh37 6 90353891 90353891 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 23 55 0 ENST00000369393.3:c.16624G>A p.Val5542Ile p.V5542I ENST00000369393 5542 Gta/Ata 0 -MECOM UCSF GRCh37 3 168834238 168834238 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 47 75 0 ENST00000264674.3:c.1053G>A p.Arg351= p.R351= ENST00000264674 NM_001105077.3 351 agG/agA 0 -MED23 UCSF GRCh37 6 131944578 131944578 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 27 55 0 ENST00000368068.3:c.309C>T p.Asn103= p.N103= ENST00000368068 NM_004830.3 103 aaC/aaT 0 -MED6 UCSF GRCh37 14 71063384 71063384 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 14 49 0 ENST00000256379.5:c.218C>T p.Ala73Val p.A73V ENST00000256379 NM_005466.2 73 gCt/gTt 0 -MEF2D UCSF GRCh37 1 156453081 156453081 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 64 8 47 0 ENST00000348159.4:c.4G>A p.Gly2Arg p.G2R ENST00000348159 NM_005920.3 2 Ggg/Agg 0 -MEGF11 UCSF GRCh37 15 66206268 66206268 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 6 28 0 ENST00000409699.2:c.2517C>T p.Ser839= p.S839= ENST00000409699 839 agC/agT 0 -MEGF9 UCSF GRCh37 9 123370235 123370235 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 157 37 128 0 ENST00000373930.3:c.1141C>T p.Pro381Ser p.P381S ENST00000373930 NM_001080497.2 381 Ccg/Tcg 0 -METTL21D UCSF GRCh37 14 50583152 50583152 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 7 7 15 0 ENST00000395860.2:c.119G>A p.Cys40Tyr p.C40Y ENST00000395860 NM_024558.2 40 tGc/tAc 0 -METTL22 UCSF GRCh37 16 8729153 8729153 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 3 18 0 ENST00000381920.3:c.684G>A p.Arg228= p.R228= ENST00000381920 NM_024109.2 228 cgG/cgA 0 -MFGE8 UCSF GRCh37 15 89444857 89444857 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 5 23 0 ENST00000268150.8:c.795C>T p.Ser265= p.S265= ENST00000268150 NM_005928.2 265 tcC/tcT 0 -MFN1 UCSF GRCh37 3 179096384 179096384 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 6 37 0 ENST00000471841.1:c.1444C>T p.Pro482Ser p.P482S ENST00000471841 NM_033540.2 482 Cca/Tca 0 -MFSD11 UCSF GRCh37 17 74771222 74771222 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 79 20 73 0 ENST00000588460.1:c.1018G>A p.Gly340Arg p.G340R ENST00000588460 NM_001242534.1 340 Gga/Aga 0 -MFSD6L UCSF GRCh37 17 8700813 8700813 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 9 17 0 ENST00000329805.4:c.1626G>A p.Gln542= p.Q542= ENST00000329805 NM_152599.3 542 caG/caA 0 -MGAM UCSF GRCh37 7 141734145 141734145 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 9 50 0 ENST00000549489.2:c.1753C>T p.Leu585= p.L585= ENST00000549489 NM_004668.2 585 Ctg/Ttg 0 -MGAT5 UCSF GRCh37 2 135185983 135185983 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 16 46 0 ENST00000409645.1:c.1842G>A p.Gln614= p.Q614= ENST00000409645 614 caG/caA 0 -MGLL UCSF GRCh37 3 127441406 127441406 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 9 25 0 ENST00000265052.5:c.266G>A p.Gly89Asp p.G89D ENST00000265052 NM_001256585.1 89 gGc/gAc 0 -MICAL1 UCSF GRCh37 6 109770019 109770019 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 20 45 0 ENST00000358807.3:c.1580G>A p.Gly527Glu p.G527E ENST00000358807 NM_022765.3 527 gGa/gAa 0 -MICALL1 UCSF GRCh37 22 38318007 38318007 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 11 12 0 ENST00000215957.6:c.598C>T p.Pro200Ser p.P200S ENST00000215957 NM_033386.3 200 Cct/Tct 0 -MICB UCSF GRCh37 6 31473641 31473641 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 6 22 0 ENST00000252229.6:c.318G>A p.Gln106= p.Q106= ENST00000252229 NM_005931.3 106 caG/caA 0 -MICU1 UCSF GRCh37 10 74183121 74183121 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 100 65 107 0 ENST00000361114.5:c.942C>T p.Arg314= p.R314= ENST00000361114 NM_001195518.1 314 cgC/cgT 0 -MLH1 UCSF GRCh37 3 37090054 37090054 + missense_variant Missense_Mutation SNP C C T snp132_rs63750610 P01_Rec somatic WXS Sanger Illumina HiSeq 5 18 44 0 ENST00000231790.2:c.1943C>T p.Pro648Leu p.P648L ENST00000231790 NM_000249.3 648 cCc/cTc 0 -MLH3 UCSF GRCh37 14 75513566 75513566 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 156 21 198 0 ENST00000355774.2:c.2793G>A p.Glu931= p.E931= ENST00000355774 NM_001040108.1 931 gaG/gaA 0 -MLL UCSF GRCh37 11 118352750 118352750 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 27 48 0 ENST00000534358.1:c.3955G>A p.Val1319Ile p.V1319I ENST00000534358 NM_005933.3 1319 Gtt/Att 0 -MLL UCSF GRCh37 11 118366480 118366480 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 40 16 75 0 ENST00000534358.1:c.5429A>G p.Glu1810Gly p.E1810G ENST00000534358 NM_005933.3 1810 gAg/gGg 0 -MLL2 UCSF GRCh37 12 49436538 49436538 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 44 67 0 ENST00000301067.7:c.5768G>A p.Arg1923Lys p.R1923K ENST00000301067 NM_003482.3 1923 aGg/aAg 0 -MLL2 UCSF GRCh37 12 49448494 49448494 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 12 28 0 ENST00000301067.7:c.217G>A p.Glu73Lys p.E73K ENST00000301067 NM_003482.3 73 Gag/Aag 0 -MLL2 UCSF GRCh37 12 49440104 49440104 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 28 40 0 ENST00000301067.7:c.4522C>T p.Pro1508Ser p.P1508S ENST00000301067 NM_003482.3 1508 Cct/Tct 0 -MLL2 UCSF GRCh37 12 49433798 49433798 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 5 29 0 ENST00000301067.7:c.7755G>A p.Gly2585= p.G2585= ENST00000301067 NM_003482.3 2585 ggG/ggA 0 -MLL3 UCSF GRCh37 7 151874749 151874749 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 12 69 0 ENST00000262189.6:c.7789C>T p.Pro2597Ser p.P2597S ENST00000262189 NM_170606.2 2597 Cca/Tca 0 -MLL3 UCSF GRCh37 7 151874636 151874636 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 92 18 64 0 ENST00000262189.6:c.7902G>A p.Glu2634= p.E2634= ENST00000262189 NM_170606.2 2634 gaG/gaA 0 -MLL5 UCSF GRCh37 7 104745979 104745979 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 17 107 0 ENST00000311117.3:c.2290C>T p.Pro764Ser p.P764S ENST00000311117 NM_182931.2 764 Cct/Tct 0 -MLLT4 UCSF GRCh37 6 168352396 168352396 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 9 71 0 ENST00000392108.3:c.4341G>A p.Gln1447= p.Q1447= ENST00000392108 NM_001040000.2 1447 caG/caA 0 -MLPH UCSF GRCh37 2 238419669 238419669 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 143 17 94 0 ENST00000264605.3:c.370C>T p.His124Tyr p.H124Y ENST00000264605 NM_024101.6 124 Cat/Tat 0 -MMP9 UCSF GRCh37 20 44640922 44640922 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 10 27 0 ENST00000372330.3:c.1144G>A p.Asp382Asn p.D382N ENST00000372330 NM_004994.2 382 Gac/Aac 0 -MOAP1 UCSF GRCh37 14 93650341 93650341 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 20 130 0 ENST00000556883.1:c.247C>T p.Pro83Ser p.P83S ENST00000556883 83 Ccg/Tcg 0 -MOAP1 UCSF GRCh37 14 93649577 93649577 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 29 66 0 ENST00000556883.1:c.1011G>A p.Glu337= p.E337= ENST00000556883 337 gaG/gaA 0 -MOB3A UCSF GRCh37 19 2078282 2078282 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 9 10 0 ENST00000357066.3:c.278G>A p.Gly93Glu p.G93E ENST00000357066 NM_130807.2 93 gGg/gAg 0 -MORC4 UCSF GRCh37 X 106229341 106229341 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 30 56 0 ENST00000355610.4:c.398G>A p.Gly133Glu p.G133E ENST00000355610 NM_001085354.2 133 gGa/gAa 0 -MOSPD1 UCSF GRCh37 X 134033430 134033430 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 8 44 0 ENST00000370783.3:c.34G>A p.Glu12Lys p.E12K ENST00000370783 NM_019556.1 12 Gaa/Aaa 0 -MOV10L1 UCSF GRCh37 22 50588095 50588095 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 3 15 0 ENST00000262794.5:c.2679G>A p.Glu893= p.E893= ENST00000262794 NM_018995.2 893 gaG/gaA 0 -MRPL10 UCSF GRCh37 17 45904022 45904022 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 3 37 0 ENST00000290208.7:c.543G>A p.Val181= p.V181= ENST00000290208 181 gtG/gtA 0 -MRPS17 UCSF GRCh37 7 56022783 56022783 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 77 49 76 0 ENST00000285298.4:c.305G>A p.Gly102Glu p.G102E ENST00000285298 NM_015969.2 102 gGa/gAa 0 -MRVI1 UCSF GRCh37 11 10602125 10602125 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 113 21 92 0 ENST00000423302.2:c.2372G>A p.Gly791Asp p.G791D ENST00000423302 NM_130385.3 791 gGt/gAt 0 -MSLN UCSF GRCh37 16 816698 816698 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 7 22 0 ENST00000382862.3:c.1285G>A p.Gly429Arg p.G429R ENST00000382862 NM_013404.4 429 Gga/Aga 0 -MSN UCSF GRCh37 X 64949352 64949352 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 12 40 0 ENST00000360270.5:c.245C>T p.Ala82Val p.A82V ENST00000360270 NM_002444.2 82 gCc/gTc 0 -MST1 UCSF GRCh37 3 49725201 49725201 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 5 15 31 0 ENST00000449682.2:c.224G>A p.Gly75Glu p.G75E ENST00000449682 NM_020998.3 75 gGg/gAg 0 -MST1 UCSF GRCh37 3 49723144 49723144 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.040,snp132_rs9713630 P01_Rec Untested WXS Illumina HiSeq 17 7 25 1 ENST00000449682.2:c.1272G>A p.Pro424= p.P424= ENST00000449682 NM_020998.3 424 ccG/ccA 0 -MSX1 UCSF GRCh37 4 4864447 4864447 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 27 37 0 ENST00000382723.4:c.489C>T p.Ala163= p.A163= ENST00000382723 NM_002448.3 163 gcC/gcT 0 -MTIF3 UCSF GRCh37 13 28014446 28014446 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 87 13 108 0 ENST00000381116.1:c.140C>T p.Ser47Phe p.S47F ENST00000381116 47 tCc/tTc 0 -MTMR14 UCSF GRCh37 3 9712828 9712828 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 23 54 0 ENST00000296003.4:c.651G>A p.Glu217= p.E217= ENST00000296003 NM_001077525.2 217 gaG/gaA 0 -MTNR1B UCSF GRCh37 11 92715267 92715267 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 39 72 0 ENST00000257068.2:c.878G>A p.Ser293Asn p.S293N ENST00000257068 NM_005959.3 293 aGc/aAc 0 -MTOR UCSF GRCh37 1 11184573 11184573 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 36 26 41 0 ENST00000361445.4:c.6644C>T p.Ser2215Phe p.S2215F ENST00000361445 NM_004958.3 2215 tCt/tTt 0 -MUC12 UCSF GRCh37 7 100646542 100646542 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 213 47 168 0 ENST00000536621.1:c.12698G>A p.Ser4233Asn p.S4233N ENST00000536621 NM_001164462.1 4233 aGc/aAc 0 -MUC17 UCSF GRCh37 7 100676996 100676996 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 192 25 155 0 ENST00000306151.4:c.2299C>T p.Leu767Phe p.L767F ENST00000306151 NM_001040105.1 767 Ctt/Ttt 0 -MUC17 UCSF GRCh37 7 100684346 100684346 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 129 75 155 0 ENST00000306151.4:c.9649C>T p.Pro3217Ser p.P3217S ENST00000306151 NM_001040105.1 3217 Cct/Tct 0 -MUC2 UCSF GRCh37 11 1092260 1092260 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 7 52 0 ENST00000441003.2:c.4079C>T p.Ser1360Phe p.S1360F ENST00000441003 NM_002457.2 1360 tCt/tTt 0 -MUC21 UCSF GRCh37 6 30954428 30954428 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 153 17 71 0 ENST00000376296.3:c.476C>T p.Ser159Phe p.S159F ENST00000376296 NM_001010909.2 159 tCc/tTc 0 -MUC21 UCSF GRCh37 6 30954650 30954650 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 139 22 83 0 ENST00000376296.3:c.698C>T p.Thr233Ile p.T233I ENST00000376296 NM_001010909.2 233 aCc/aTc 0 -MUC4 UCSF GRCh37 3 195513478 195513478 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 206 88 326 0 ENST00000463781.3:c.4973C>T p.Ser1658Phe p.S1658F ENST00000463781 NM_018406.6 1658 tCc/tTc 0 -MYBL1 UCSF GRCh37 8 67484738 67484739 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 0 ENST00000522677.3:c.1707dup p.Tyr570IlefsTer5 p.Y570Ifs*5 ENST00000522677 NM_001080416.2 569 aaa/aaAa 0 -MYBL2 UCSF GRCh37 20 42338616 42338616 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 107 25 95 0 ENST00000217026.4:c.1519G>A p.Asp507Asn p.D507N ENST00000217026 NM_002466.3 507 Gat/Aat 0 -MYBPHL UCSF GRCh37 1 109839724 109839724 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 20 60 0 ENST00000357155.1:c.518G>A p.Gly173Glu p.G173E ENST00000357155 NM_001265613.1 173 gGg/gAg 0 -MYCBP2 UCSF GRCh37 13 77642966 77642966 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 12 65 0 ENST00000544440.2:c.11791G>A p.Val3931Met p.V3931M ENST00000544440 3931 Gtg/Atg 0 -MYH10 UCSF GRCh37 17 8416890 8416890 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 34 38 0 ENST00000360416.3:c.2711G>A p.Gly904Glu p.G904E ENST00000360416 NM_001256012.1 904 gGa/gAa 0 -MYH11 UCSF GRCh37 16 15835500 15835500 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 65 38 62 0 ENST00000396324.3:c.2700G>A p.Gln900= p.Q900= ENST00000396324 NM_001040114.1 900 caG/caA 0 -MYH13 UCSF GRCh37 17 10206579 10206579 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 84 46 69 0 ENST00000418404.3:c.5601G>A p.Arg1867= p.R1867= ENST00000418404 1867 agG/agA 0 -MYH13 UCSF GRCh37 17 10267644 10267644 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 15 120 0 ENST00000418404.3:c.204G>A p.Arg68= p.R68= ENST00000418404 68 cgG/cgA 0 -MYH4 UCSF GRCh37 17 10363607 10363607 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 55 46 64 0 ENST00000255381.2:c.1179G>A p.Leu393= p.L393= ENST00000255381 NM_017533.2 393 ctG/ctA 0 -MYH6 UCSF GRCh37 14 23862195 23862195 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 11 32 0 ENST00000405093.3:c.3177C>T p.Gly1059= p.G1059= ENST00000405093 NM_002471.3 1059 ggC/ggT 0 -MYH7 UCSF GRCh37 14 23884352 23884352 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 29 41 0 ENST00000355349.3:c.5411C>T p.Ala1804Val p.A1804V ENST00000355349 NM_000257.2 1804 gCc/gTc 0 -MYH8 UCSF GRCh37 17 10305018 10305018 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 115 74 146 0 ENST00000403437.2:c.2773G>A p.Val925Met p.V925M ENST00000403437 NM_002472.2 925 Gtg/Atg 0 -MYL3 UCSF GRCh37 3 46904778 46904778 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 4 46 0 ENST00000395869.1:c.103G>A p.Val35Ile p.V35I ENST00000395869 35 Gtc/Atc 0 -MYLK UCSF GRCh37 3 123419528 123419528 + synonymous_variant Silent SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 26 10 64 1 ENST00000360304.3:c.2787G>A p.Leu929= p.L929= ENST00000360304 NM_053025.3 929 ctG/ctA 0 -MYO10 UCSF GRCh37 5 16701512 16701512 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 16 24 0 ENST00000513610.1:c.2992G>A p.Glu998Lys p.E998K ENST00000513610 NM_012334.2 998 Gaa/Aaa 0 -MYO10 UCSF GRCh37 5 16701948 16701948 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 12 54 0 ENST00000513610.1:c.2557-1G>A p.X853_splice ENST00000513610 NM_012334.2 0 -MYO15A UCSF GRCh37 17 18047868 18047868 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 12 17 0 ENST00000205890.5:c.6235G>A p.Ala2079Thr p.A2079T ENST00000205890 NM_016239.3 2079 Gcc/Acc 0 -MYO16 UCSF GRCh37 13 109365014 109365014 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 8 43 0 ENST00000356711.2:c.232C>T p.Arg78Trp p.R78W ENST00000356711 NM_015011.1 78 Cgg/Tgg 0 -MYO1E UCSF GRCh37 15 59445946 59445946 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 36 39 0 ENST00000288235.4:c.2923C>T p.Pro975Ser p.P975S ENST00000288235 NM_004998.3 975 Ccc/Tcc 0 -MYO3A UCSF GRCh37 10 26305789 26305789 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 35 88 0 ENST00000265944.5:c.549C>T p.Asn183= p.N183= ENST00000265944 NM_017433.4 183 aaC/aaT 0 -MYO3B UCSF GRCh37 2 171262121 171262121 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 13 55 0 ENST00000408978.4:c.2498G>A p.Gly833Asp p.G833D ENST00000408978 NM_138995.4 833 gGc/gAc 0 -MYO3B UCSF GRCh37 2 171238526 171238526 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 94 15 97 0 ENST00000408978.4:c.972G>A p.Arg324= p.R324= ENST00000408978 NM_138995.4 324 agG/agA 0 -MYO7B UCSF GRCh37 2 128393887 128393887 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 10 14 0 ENST00000428314.1:c.6033C>T p.Phe2011= p.F2011= ENST00000428314 NM_001080527.1 2011 ttC/ttT 0 -MYOCD UCSF GRCh37 17 12666467 12666467 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 41 42 77 0 ENST00000425538.1:c.2467A>G p.Thr823Ala p.T823A ENST00000425538 NM_001146312.1 823 Act/Gct 0 -MYOCD UCSF GRCh37 17 12620673 12620673 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 22 58 0 ENST00000425538.1:c.188C>T p.Ser63Phe p.S63F ENST00000425538 NM_001146312.1 63 tCc/tTc 0 -MYOF UCSF GRCh37 10 95111245 95111245 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 21 73 0 ENST00000359263.4:c.3747C>T p.Leu1249= p.L1249= ENST00000359263 NM_013451.3 1249 ctC/ctT 0 -MYOM1 UCSF GRCh37 18 3151764 3151764 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 60 87 0 ENST00000356443.4:c.1771G>A p.Gly591Arg p.G591R ENST00000356443 NM_019856.1 591 Gga/Aga 0 -MYOM1 UCSF GRCh37 18 3173967 3173967 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 20 76 0 ENST00000356443.4:c.1143C>T p.Phe381= p.F381= ENST00000356443 NM_019856.1 381 ttC/ttT 0 -MYPN UCSF GRCh37 10 69959267 69959267 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 17 59 0 ENST00000358913.5:c.3428C>T p.Thr1143Ile p.T1143I ENST00000358913 NM_032578.3 1143 aCc/aTc 0 -MYPN UCSF GRCh37 10 69881321 69881321 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 21 47 0 ENST00000358913.5:c.126C>T p.Cys42= p.C42= ENST00000358913 NM_032578.3 42 tgC/tgT 0 -MYRIP UCSF GRCh37 3 40208666 40208666 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 4 26 24 0 ENST00000302541.6:c.665C>T p.Ala222Val p.A222V ENST00000302541 NM_015460.2 222 gCc/gTc 0 -NAALADL1 UCSF GRCh37 11 64821987 64821987 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 9 19 0 ENST00000358658.3:c.827C>T p.Ser276Phe p.S276F ENST00000358658 NM_005468.2 276 tCc/tTc 0 -NACA UCSF GRCh37 12 57114689 57114689 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 36 77 0 ENST00000550952.1:c.625G>A p.Val209Ile p.V209I ENST00000550952 209 Gtc/Atc 0 -NAE1 UCSF GRCh37 16 66850916 66850916 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 81 17 94 0 ENST00000290810.3:c.700C>T p.Pro234Ser p.P234S ENST00000290810 234 Cct/Tct 0 -NAIF1 UCSF GRCh37 9 130829281 130829281 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 10 38 0 ENST00000373078.4:c.100C>T p.His34Tyr p.H34Y ENST00000373078 NM_197956.3 34 Cac/Tac 0 -NALCN UCSF GRCh37 13 101721137 101721137 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 12 51 0 ENST00000251127.6:c.4240G>A p.Ala1414Thr p.A1414T ENST00000251127 NM_052867.2 1414 Gca/Aca 0 -NAV1 UCSF GRCh37 1 201682021 201682021 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 20 43 0 ENST00000367296.4:c.834C>T p.Ser278= p.S278= ENST00000367296 NM_020443.4 278 agC/agT 0 -NAV3 UCSF GRCh37 12 78401021 78401021 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 11 65 0 ENST00000536525.2:c.1703C>T p.Pro568Leu p.P568L ENST00000536525 NM_014903.4 568 cCt/cTt 0 -NBEAL2 UCSF GRCh37 3 47043734 47043734 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 7 9 30 0 ENST00000450053.3:c.5107G>A p.Ala1703Thr p.A1703T ENST00000450053 NM_015175.2 1703 Gct/Act 0 -NBPF3 UCSF GRCh37 1 21806654 21806654 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 97 46 107 0 ENST00000318249.5:c.1319C>T p.Pro440Leu p.P440L ENST00000318249 NM_032264.4 440 cCc/cTc 0 -NBPF3 UCSF GRCh37 1 21805842 21805842 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 142 22 131 0 ENST00000318249.5:c.1157G>A p.Arg386Lys p.R386K ENST00000318249 NM_032264.4 386 aGa/aAa 0 -NCAPG UCSF GRCh37 4 17844947 17844947 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 33 101 0 ENST00000251496.2:c.2947G>A p.Glu983Lys p.E983K ENST00000251496 NM_022346.4 983 Gaa/Aaa 0 -NCKAP1L UCSF GRCh37 12 54917237 54917237 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 97 21 107 0 ENST00000293373.6:c.1938G>A p.Lys646= p.K646= ENST00000293373 NM_005337.4 646 aaG/aaA 0 -NCKAP5 UCSF GRCh37 2 133540233 133540233 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 11 31 0 ENST00000409261.1:c.4151G>A p.Gly1384Glu p.G1384E ENST00000409261 NM_207363.2 1384 gGa/gAa 0 -NCOA3 UCSF GRCh37 20 46279918 46279918 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.00197 P01_Rec Untested WXS Illumina HiSeq 35 7 48 0 ENST00000371998.3:c.3844C>T p.Pro1282Ser p.P1282S ENST00000371998 1282 Cca/Tca 0 -NCOR1 UCSF GRCh37 17 16022800 16022800 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 93 33 105 0 ENST00000268712.3:c.1853-1G>A p.X618_splice ENST00000268712 NM_006311.3 0 -NCSTN UCSF GRCh37 1 160321500 160321500 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 131 21 116 0 ENST00000294785.5:c.748C>T p.Pro250Ser p.P250S ENST00000294785 NM_015331.2 250 Ccc/Tcc 0 -NDST1 UCSF GRCh37 5 149907410 149907410 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 11 14 0 ENST00000261797.6:c.558C>T p.Pro186= p.P186= ENST00000261797 NM_001543.4 186 ccC/ccT 0 -NDST3 UCSF GRCh37 4 119059216 119059216 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 14 59 0 ENST00000296499.5:c.1232G>A p.Gly411Asp p.G411D ENST00000296499 NM_004784.2 411 gGc/gAc 0 -NDUFS1 UCSF GRCh37 2 207014633 207014633 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 26 63 0 ENST00000455934.2:c.212G>A p.Gly71Asp p.G71D ENST00000455934 NM_001199984.1 71 gGc/gAc 0 -NEB UCSF GRCh37 2 152468732 152468732 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 113 20 119 0 ENST00000397345.3:c.11773C>T p.Leu3925= p.L3925= ENST00000397345 NM_001164508.1 3925 Cta/Tta 0 -NECAB1 UCSF GRCh37 8 91937778 91937778 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 35 73 0 ENST00000417640.2:c.510G>A p.Lys170= p.K170= ENST00000417640 NM_022351.4 170 aaG/aaA 0 -NEDD4 UCSF GRCh37 15 56139232 56139232 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 12 79 0 ENST00000338963.2:c.2584G>A p.Ala862Thr p.A862T ENST00000338963 NM_198400.2 862 Gca/Aca 0 -NEDD9 UCSF GRCh37 6 11191145 11191145 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 8 39 0 ENST00000379446.5:c.957C>T p.Val319= p.V319= ENST00000379446 NM_001271033.1 319 gtC/gtT 0 -NEK3 UCSF GRCh37 13 52715162 52715162 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 14 50 0 ENST00000400357.2:c.876+2889C>T *292* ENST00000400357 0 -NEK9 UCSF GRCh37 14 75558142 75558142 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 7 23 0 ENST00000238616.5:c.2273G>A p.Gly758Asp p.G758D ENST00000238616 NM_033116.4 758 gGc/gAc 0 -NELF UCSF GRCh37 9 140346820 140346820 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 104 22 47 0 ENST00000371475.3:c.1233C>T p.Cys411= p.C411= ENST00000371475 NM_001130969.1 411 tgC/tgT 0 -NET1 UCSF GRCh37 10 5494459 5494459 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 10 28 0 ENST00000355029.4:c.502C>T p.Leu168Phe p.L168F ENST00000355029 NM_001047160.2 168 Ctc/Ttc 0 -NEU1 UCSF GRCh37 6 31827515 31827515 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 88 14 64 0 ENST00000375631.4:c.1229G>A p.Ser410Asn p.S410N ENST00000375631 NM_000434.3 410 aGt/aAt 0 -NEURL2 UCSF GRCh37 20 44518890 44518890 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 9 11 0 ENST00000372518.4:c.741C>T p.Gly247= p.G247= ENST00000372518 NM_001278535.1 247 ggC/ggT 0 -NEUROG3 UCSF GRCh37 10 71332566 71332566 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 6 10 0 ENST00000242462.4:c.234C>T p.Ser78= p.S78= ENST00000242462 NM_020999.3 78 agC/agT 0 -NF1 UCSF GRCh37 17 29553505 29553505 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 34 22 47 0 ENST00000358273.4:c.2054C>T p.Thr685Ile p.T685I ENST00000358273 NM_001042492.2 685 aCc/aTc 0 -NFASC UCSF GRCh37 1 204970336 204970336 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 5 29 0 ENST00000339876.6:c.3058C>T p.Pro1020Ser p.P1020S ENST00000339876 NM_001005388.2 1020 Ccc/Tcc 0 -NFATC3 UCSF GRCh37 16 68224758 68224758 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 47 74 0 ENST00000346183.3:c.2186C>T p.Pro729Leu p.P729L ENST00000346183 NM_173165.2 729 cCt/cTt 0 -NFKBID UCSF GRCh37 19 36387847 36387847 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 11 30 0 ENST00000396901.1:c.120G>A p.Gln40= p.Q40= ENST00000396901 NM_139239.1 40 caG/caA 0 -NFKBIE UCSF GRCh37 6 44230365 44230365 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 9 22 0 ENST00000275015.5:c.817G>A p.Ala273Thr p.A273T ENST00000275015 NM_004556.2 273 Gcg/Acg 0 -NHS UCSF GRCh37 X 17744999 17744999 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 58 62 0 ENST00000380060.3:c.2710C>T p.Pro904Ser p.P904S ENST00000380060 NM_198270.2 904 Cct/Tct 0 -NHSL1 UCSF GRCh37 6 138752697 138752697 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 9 17 0 ENST00000427025.2:c.2797G>A p.Ala933Thr p.A933T ENST00000427025 NM_020464.1 933 Gct/Act 0 -NHSL1 UCSF GRCh37 6 138753049 138753049 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 18 24 0 ENST00000427025.2:c.2445G>A p.Gly815= p.G815= ENST00000427025 NM_020464.1 815 ggG/ggA 0 -NHSL1 UCSF GRCh37 6 138753691 138753691 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 107 14 88 0 ENST00000427025.2:c.1803G>A p.Gly601= p.G601= ENST00000427025 NM_020464.1 601 ggG/ggA 0 -NID1 UCSF GRCh37 1 236180524 236180524 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 10 74 0 ENST00000264187.6:c.2178C>T p.Ile726= p.I726= ENST00000264187 NM_002508.2 726 atC/atT 0 -NKTR UCSF GRCh37 3 42662979 42662979 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 7 70 0 ENST00000232978.8:c.345G>A p.Gly115= p.G115= ENST00000232978 NM_005385.3 115 ggG/ggA 0 -NLN UCSF GRCh37 5 65105515 65105515 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 29 85 0 ENST00000380985.5:c.1701G>A p.Arg567= p.R567= ENST00000380985 NM_020726.4 567 agG/agA 0 -NLRC3 UCSF GRCh37 16 3604266 3604266 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 4 16 0 ENST00000448023.2:c.2385C>T p.Ser795= p.S795= ENST00000448023 795 tcC/tcT 0 -NLRP14 UCSF GRCh37 11 7083698 7083698 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 69 44 119 0 ENST00000299481.4:c.2939C>T p.Ala980Val p.A980V ENST00000299481 NM_176822.3 980 gCt/gTt 0 -NLRP4 UCSF GRCh37 19 56382267 56382267 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 7 46 0 ENST00000301295.6:c.2429G>A p.Arg810His p.R810H ENST00000301295 NM_134444.4 810 cGc/cAc 0 -NMBR UCSF GRCh37 6 142409531 142409531 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 17 15 0 ENST00000258042.1:c.265G>A p.Asp89Asn p.D89N ENST00000258042 NM_002511.2 89 Gac/Aac 0 -NME1-NME2 UCSF GRCh37 17 49248858 49248858 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 39 59 0 ENST00000393193.2:c.697C>T p.His233Tyr p.H233Y ENST00000393193 233 Cat/Tat 0 -NME1-NME2 UCSF GRCh37 17 49248924 49248924 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 18 78 0 ENST00000393193.2:c.763G>A p.Val255Ile p.V255I ENST00000393193 255 Gtt/Att 0 -NOB1 UCSF GRCh37 16 69783509 69783509 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 11 80 0 ENST00000268802.5:c.352C>T p.His118Tyr p.H118Y ENST00000268802 NM_014062.2 118 Cac/Tac 0 -NOL8 UCSF GRCh37 9 95077331 95077331 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 91 22 66 0 ENST00000545558.1:c.1576C>T p.Pro526Ser p.P526S ENST00000545558 526 Ccc/Tcc 0 -NOL9 UCSF GRCh37 1 6592067 6592067 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 12 80 0 ENST00000377705.5:c.1608C>T p.Pro536= p.P536= ENST00000377705 NM_024654.4 536 ccC/ccT 0 -NOMO2 UCSF GRCh37 16 18555043 18555043 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 15 141 0 ENST00000381474.3:c.631C>T p.Pro211Ser p.P211S ENST00000381474 NM_001004060.1 211 Ccc/Tcc 0 -NOS2 UCSF GRCh37 17 26107878 26107878 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 10 20 0 ENST00000313735.6:c.919C>T p.Leu307= p.L307= ENST00000313735 NM_000625.4 307 Ctg/Ttg 0 -NOTCH2 UCSF GRCh37 1 120478152 120478152 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 48 90 0 ENST00000256646.2:c.3598G>A p.Gly1200Ser p.G1200S ENST00000256646 NM_024408.3 1200 Ggc/Agc 0 -NPAS3 UCSF GRCh37 14 34269087 34269087 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 4 9 0 ENST00000356141.4:c.1574G>A p.Ser525Asn p.S525N ENST00000356141 525 aGc/aAc 0 -NPFF UCSF GRCh37 12 53900629 53900629 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 38 98 0 ENST00000267017.3:c.273C>T p.Pro91= p.P91= ENST00000267017 NM_003717.2 91 ccC/ccT 0 -NPHP1 UCSF GRCh37 2 110922642 110922642 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 75 12 84 0 ENST00000316534.4:c.715G>A p.Glu239Lys p.E239K ENST00000316534 239 Gaa/Aaa 0 -NPRL2 UCSF GRCh37 3 50386307 50386307 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 11 28 48 0 ENST00000232501.3:c.583C>T p.Gln195Ter p.Q195* ENST00000232501 NM_006545.4 195 Caa/Taa 0 -NR1H3 UCSF GRCh37 11 47282796 47282796 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 7 16 0 ENST00000467728.1:c.504C>T p.Val168= p.V168= ENST00000467728 168 gtC/gtT 0 -NRIP1 UCSF GRCh37 21 16337740 16337740 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 97 68 143 0 ENST00000400202.1:c.2774G>A p.Ser925Asn p.S925N ENST00000400202 925 aGt/aAt 0 -NRIP1 UCSF GRCh37 21 16340169 16340169 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 101 16 107 0 ENST00000400202.1:c.345G>A p.Leu115= p.L115= ENST00000400202 115 ttG/ttA 0 -NRIP2 UCSF GRCh37 12 2944109 2944109 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 6 16 0 ENST00000337508.4:c.41C>T p.Ser14Phe p.S14F ENST00000337508 NM_031474.2 14 tCc/tTc 0 -NRIP2 UCSF GRCh37 12 2937137 2937137 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 6 24 0 ENST00000337508.4:c.655C>T p.Leu219= p.L219= ENST00000337508 NM_031474.2 219 Cta/Tta 0 -NRP1 UCSF GRCh37 10 33486635 33486635 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 6 48 0 ENST00000265371.4:c.1867G>A p.Gly623Ser p.G623S ENST00000265371 623 Ggc/Agc 0 -NRXN1 UCSF GRCh37 2 50850507 50850507 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 55 141 0 ENST00000404971.1:c.1178G>A p.Gly393Glu p.G393E ENST00000404971 NM_001135659.1 393 gGa/gAa 0 -NSUN6 UCSF GRCh37 10 18903531 18903531 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 8 43 0 ENST00000377304.4:c.433G>A p.Gly145Arg p.G145R ENST00000377304 NM_182543.2 145 Gga/Aga 0 -NT5C2 UCSF GRCh37 10 104849440 104849440 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 14 20 0 ENST00000343289.5:c.1675G>A p.Glu559Lys p.E559K ENST00000343289 NM_012229.4 559 Gag/Aag 0 -NTNG1 UCSF GRCh37 1 107979300 107979300 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 56 102 0 ENST00000370068.1:c.1269C>T p.Asn423= p.N423= ENST00000370068 423 aaC/aaT 0 -NUDT21 UCSF GRCh37 16 56485037 56485037 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 39 5 37 0 ENST00000300291.5:c.78G>A p.Gln26= p.Q26= ENST00000300291 NM_007006.2 26 caG/caA 0 -NUFIP1 UCSF GRCh37 13 45563287 45563287 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 14 16 0 ENST00000379161.4:c.285C>T p.Ala95= p.A95= ENST00000379161 NM_012345.2 95 gcC/gcT 0 -NUP133 UCSF GRCh37 1 229611477 229611477 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 64 9 62 0 ENST00000261396.3:c.1759G>A p.Ala587Thr p.A587T ENST00000261396 NM_018230.2 587 Gca/Aca 0 -NUP153 UCSF GRCh37 6 17632906 17632906 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 132 16 78 0 ENST00000262077.2:c.2634G>A p.Lys878= p.K878= ENST00000262077 NM_001278210.1 878 aaG/aaA 0 -NUP210 UCSF GRCh37 3 13363194 13363194 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 55 50 72 0 ENST00000254508.5:c.5057C>T p.Pro1686Leu p.P1686L ENST00000254508 NM_024923.3 1686 cCc/cTc 0 -NUP214 UCSF GRCh37 9 134074253 134074253 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 101 24 49 0 ENST00000359428.5:c.5372C>T p.Pro1791Leu p.P1791L ENST00000359428 NM_005085.3 1791 cCc/cTc 0 -NUP214 UCSF GRCh37 9 134038400 134038400 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 96 32 63 0 ENST00000359428.5:c.2563G>A p.Glu855Lys p.E855K ENST00000359428 NM_005085.3 855 Gag/Aag 0 -NUP214 UCSF GRCh37 9 134074061 134074061 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 78 9 37 0 ENST00000359428.5:c.5180G>A p.Gly1727Glu p.G1727E ENST00000359428 NM_005085.3 1727 gGg/gAg 0 -NUP98 UCSF GRCh37 11 3697537 3697537 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 4 14 25 0 ENST00000324932.7:c.5255C>T p.Ser1752Phe p.S1752F ENST00000324932 NM_139132.3 1752 tCc/tTc 0 -NUP98 UCSF GRCh37 11 3733811 3733811 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 40 68 0 ENST00000324932.7:c.2725C>T p.Pro909Ser p.P909S ENST00000324932 NM_139132.3 909 Cct/Tct 0 -NUPL1 UCSF GRCh37 13 25905536 25905536 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 28 43 0 ENST00000381736.3:c.1275G>A p.Leu425= p.L425= ENST00000381736 NM_014089.3 425 ttG/ttA 0 -NVL UCSF GRCh37 1 224468833 224468833 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 28 89 0 ENST00000281701.6:c.1954C>T p.Leu652= p.L652= ENST00000281701 NM_002533.3 652 Cta/Tta 0 -NYNRIN UCSF GRCh37 14 24878470 24878470 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 53 17 46 0 ENST00000382554.3:c.1470G>A p.Gln490= p.Q490= ENST00000382554 NM_025081.2 490 caG/caA 0 -OBSCN UCSF GRCh37 1 228451969 228451969 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 81 11 63 0 ENST00000570156.2:c.5290G>A p.Val1764Met p.V1764M ENST00000570156 NM_001271223.2 1764 Gtg/Atg 0 -OBSCN UCSF GRCh37 1 228509188 228509188 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 14 21 0 ENST00000570156.2:c.17517C>T p.Ala5839= p.A5839= ENST00000570156 NM_001271223.2 5839 gcC/gcT 0 -ODF2 UCSF GRCh37 9 131261283 131261283 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 77 29 40 0 ENST00000434106.3:c.2179G>A p.Glu727Lys p.E727K ENST00000434106 NM_153433.1 727 Gaa/Aaa 0 -OGDHL UCSF GRCh37 10 50952079 50952079 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 10 10 0 ENST00000374103.4:c.1822G>A p.Ala608Thr p.A608T ENST00000374103 NM_018245.2 608 Gcc/Acc 0 -OGFRL1 UCSF GRCh37 6 72006265 72006265 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 14 63 0 ENST00000370435.4:c.546+1G>A p.X182_splice ENST00000370435 NM_024576.3 0 -OLFML2A UCSF GRCh37 9 127563934 127563934 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 9 27 0 ENST00000373580.3:c.911C>T p.Ala304Val p.A304V ENST00000373580 NM_182487.2 304 gCg/gTg 0 -OLFML2A UCSF GRCh37 9 127570103 127570103 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 8 21 0 ENST00000373580.3:c.1212C>T p.Pro404= p.P404= ENST00000373580 NM_182487.2 404 ccC/ccT 0 -OLFML3 UCSF GRCh37 1 114523942 114523942 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 23 38 0 ENST00000320334.4:c.772C>T p.Pro258Ser p.P258S ENST00000320334 NM_020190.2 258 Cca/Tca 0 -OPCML UCSF GRCh37 11 132306126 132306126 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 60 45 60 0 ENST00000331898.7:c.791C>T p.Ala264Val p.A264V ENST00000331898 NM_002545.3 264 gCc/gTc 0 -OPCML UCSF GRCh37 11 132527148 132527148 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 18 32 0 ENST00000331898.7:c.234G>A p.Gly78= p.G78= ENST00000331898 NM_002545.3 78 ggG/ggA 0 -OR10A3 UCSF GRCh37 11 7960335 7960335 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 37 63 0 ENST00000360759.3:c.733C>T p.Leu245Phe p.L245F ENST00000360759 NM_001003745.1 245 Ctc/Ttc 0 -OR10R2 UCSF GRCh37 1 158450020 158450020 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 151 34 119 0 ENST00000368152.1:c.353C>T p.Ala118Val p.A118V ENST00000368152 NM_001004472.1 118 gCt/gTt 0 -OR10S1 UCSF GRCh37 11 123848113 123848113 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 8 17 0 ENST00000531945.1:c.286G>A p.Ala96Thr p.A96T ENST00000531945 NM_001004474.1 96 Gca/Aca 0 -OR10S1 UCSF GRCh37 11 123848289 123848289 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 8 49 0 ENST00000531945.1:c.110C>T p.Ser37Phe p.S37F ENST00000531945 NM_001004474.1 37 tCt/tTt 0 -OR14J1 UCSF GRCh37 6 29274902 29274902 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 95 34 67 0 ENST00000377160.2:c.436G>A p.Val146Met p.V146M ENST00000377160 NM_030946.1 146 Gtg/Atg 0 -OR1A2 UCSF GRCh37 17 3101003 3101003 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 81 59 100 0 ENST00000381951.1:c.191C>T p.Ala64Val p.A64V ENST00000381951 NM_012352.1 64 gCc/gTc 0 -OR1C1 UCSF GRCh37 1 247921698 247921698 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 9 51 0 ENST00000408896.2:c.11G>A p.Arg4Lys p.R4K ENST00000408896 NM_012353.2 4 aGa/aAa 0 -OR2B3 UCSF GRCh37 6 29054960 29054960 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 21 54 0 ENST00000377173.2:c.66G>A p.Trp22Ter p.W22* ENST00000377173 NM_001005226.2 22 tgG/tgA 0 -OR2G2 UCSF GRCh37 1 247752365 247752365 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 27 51 0 ENST00000320065.1:c.704C>T p.Thr235Ile p.T235I ENST00000320065 NM_001001915.1 235 aCc/aTc 0 -OR3A2 UCSF GRCh37 17 3181566 3181566 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 20 50 0 ENST00000408891.2:c.664C>T p.Leu222Phe p.L222F ENST00000408891 NM_002551.3 222 Ctc/Ttc 0 -OR51B2 UCSF GRCh37 11 5345160 5345160 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 17 103 0 ENST00000328813.2:c.368C>T p.Ala123Val p.A123V ENST00000328813 NM_033180.4 123 gCc/gTc 0 -OR52B2 UCSF GRCh37 11 6190897 6190897 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 20 27 0 ENST00000530810.1:c.660C>T p.Tyr220= p.Y220= ENST00000530810 NM_001004052.1 220 taC/taT 0 -OR52W1 UCSF GRCh37 11 6220526 6220526 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 56 12 73 0 ENST00000311352.2:c.73C>T p.Leu25= p.L25= ENST00000311352 NM_001005178.1 25 Cta/Tta 0 -OR5K4 UCSF GRCh37 3 98073030 98073030 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 72 130 0 ENST00000354924.2:c.333C>T p.Asp111= p.D111= ENST00000354924 NM_001005517.1 111 gaC/gaT 0 -OR5L2 UCSF GRCh37 11 55595315 55595315 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 35 83 0 ENST00000378397.1:c.621G>A p.Glu207= p.E207= ENST00000378397 NM_001004739.1 207 gaG/gaA 0 -OR6C3 UCSF GRCh37 12 55725859 55725859 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 81 66 129 0 ENST00000379667.1:c.375G>A p.Lys125= p.K125= ENST00000379667 NM_054104.1 125 aaG/aaA 0 -OR7C1 UCSF GRCh37 19 14910638 14910638 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P01_Rec Untested WXS Illumina HiSeq 10 0 ENST00000248073.2:c.311delT p.Phe104SerfsTer12 p.F104Sfs*12 ENST00000248073 NM_198944.1 104 tTc/tc 0 -OR8G1 UCSF GRCh37 11 124121243 124121243 + intron_variant Intron SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 100 14 95 0 ENST00000341493.2:c.776+45C>T *259* ENST00000341493 NM_001002905.1 0 -OSBPL6 UCSF GRCh37 2 179170939 179170939 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 62 53 71 1 ENST00000392505.2:c.28C>T p.Pro10Ser p.P10S ENST00000392505 NM_001201480.1 10 Cct/Tct 0 -OSCAR UCSF GRCh37 19 54600250 54600250 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 3 24 0 ENST00000359649.4:c.284C>T p.Thr95Ile p.T95I ENST00000359649 NM_206818.1 95 aCt/aTt 0 -OSGEPL1 UCSF GRCh37 2 190618771 190618771 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 122 19 106 0 ENST00000264151.5:c.834C>T p.Ile278= p.I278= ENST00000264151 NM_022353.2 278 atC/atT 0 -OTOA UCSF GRCh37 16 21742223 21742223 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 9 50 0 ENST00000388958.3:c.2273G>A p.Gly758Glu p.G758E ENST00000388958 NM_144672.3 758 gGa/gAa 0 -OTUD4 UCSF GRCh37 4 146076591 146076591 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 6 32 129 0 ENST00000454497.2:c.650T>C p.Leu217Ser p.L217S ENST00000454497 NM_001102653.1 217 tTa/tCa 0 -OVOL2 UCSF GRCh37 20 18005411 18005411 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 10 38 0 ENST00000278780.6:c.697G>A p.Val233Met p.V233M ENST00000278780 NM_021220.2 233 Gtg/Atg 0 -OXCT2 UCSF GRCh37 1 40236219 40236219 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 18 56 0 ENST00000327582.5:c.709G>A p.Ala237Thr p.A237T ENST00000327582 NM_022120.1 237 Gct/Act 0 -OXNAD1 UCSF GRCh37 3 16343361 16343361 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 86 29 66 0 ENST00000285083.5:c.661G>A p.Glu221Lys p.E221K ENST00000285083 NM_138381.3 221 Gaa/Aaa 0 -P2RY14 UCSF GRCh37 3 150931103 150931103 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 55 155 0 ENST00000309170.3:c.1002C>T p.Ser334= p.S334= ENST00000309170 NM_014879.3 334 agC/agT 0 -P2RY4 UCSF GRCh37 X 69478678 69478678 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 6 15 0 ENST00000374519.2:c.797C>T p.Thr266Ile p.T266I ENST00000374519 NM_002565.3 266 aCc/aTc 0 -PABPC1 UCSF GRCh37 8 101717192 101717192 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 17 95 0 ENST00000318607.5:c.1780C>T p.Leu594Phe p.L594F ENST00000318607 NM_002568.3 594 Ctt/Ttt 0 -PABPC3 UCSF GRCh37 13 25672036 25672036 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 61 100 0 ENST00000281589.3:c.1700C>T p.Ala567Val p.A567V ENST00000281589 NM_030979.2 567 gCc/gTc 0 -PACSIN1 UCSF GRCh37 6 34496435 34496435 + missense_variant Missense_Mutation SNP C C G NOVEL P01_Rec Untested WXS Illumina HiSeq 62 14 42 2 ENST00000538621.1:c.237C>G p.Ser79Arg p.S79R ENST00000538621 NM_001199583.2 79 agC/agG 0 -PACSIN2 UCSF GRCh37 22 43289512 43289512 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 10 19 0 ENST00000263246.3:c.168G>A p.Ala56= p.A56= ENST00000263246 NM_001184970.1 56 gcG/gcA 0 -PADI3 UCSF GRCh37 1 17592190 17592190 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 24 35 0 ENST00000375460.3:c.383G>A p.Arg128Lys p.R128K ENST00000375460 NM_016233.2 128 aGg/aAg 0 -PADI4 UCSF GRCh37 1 17674544 17674544 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 18 4 17 0 ENST00000375448.4:c.1155+1G>A p.X385_splice ENST00000375448 NM_012387.2 0 -PADI6 UCSF GRCh37 1 17707598 17707598 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 7 18 0 ENST00000434762.2:n.542C>T *181* ENST00000434762 0 -PAIP1 UCSF GRCh37 5 43529973 43529973 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 26 109 0 ENST00000306846.3:c.1261G>A p.Glu421Lys p.E421K ENST00000306846 NM_006451.4 421 Gag/Aag 0 -PAN2 UCSF GRCh37 12 56726781 56726781 + missense_variant Missense_Mutation SNP A A T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 15 65 0 ENST00000425394.2:c.98T>A p.Leu33Gln p.L33Q ENST00000425394 NM_001127460.2 33 cTg/cAg 0 -PANK4 UCSF GRCh37 1 2452596 2452596 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 17 55 0 ENST00000378466.3:c.366G>A p.Ala122= p.A122= ENST00000378466 NM_018216.1 122 gcG/gcA 0 -PAPD7 UCSF GRCh37 5 6750520 6750520 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 8 36 0 ENST00000230859.6:c.1014C>T p.Pro338= p.P338= ENST00000230859 NM_001171805.1 338 ccC/ccT 0 -PAPOLA UCSF GRCh37 14 96986446 96986446 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 74 13 75 0 ENST00000216277.8:c.63C>T p.Gly21= p.G21= ENST00000216277 NM_032632.4 21 ggC/ggT 0 -PAPPA UCSF GRCh37 9 118950399 118950399 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 9 27 0 ENST00000328252.3:c.1382G>A p.Cys461Tyr p.C461Y ENST00000328252 NM_002581.3 461 tGc/tAc 0 -PAQR3 UCSF GRCh37 4 79856412 79856412 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 58 37 80 0 ENST00000512733.1:c.211G>A p.Val71Ile p.V71I ENST00000512733 NM_001040202.1 71 Gta/Ata 0 -PARD3B UCSF GRCh37 2 206037097 206037097 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 14 37 0 ENST00000358768.2:c.1597C>T p.Pro533Ser p.P533S ENST00000358768 533 Cca/Tca 0 -PARM1 UCSF GRCh37 4 75938106 75938106 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 97 49 110 0 ENST00000307428.7:c.515C>T p.Ser172Phe p.S172F ENST00000307428 NM_015393.3 172 tCc/tTc 0 -PARS2 UCSF GRCh37 1 55223436 55223436 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 22 35 0 ENST00000371279.3:c.1399G>A p.Asp467Asn p.D467N ENST00000371279 NM_152268.3 467 Gat/Aat 0 -PBRM1 UCSF GRCh37 3 52588816 52588816 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 4 11 15 0 ENST00000394830.3:c.4212G>A p.Gln1404= p.Q1404= ENST00000394830 NM_018313.4 1404 caG/caA 0 -PCDH12 UCSF GRCh37 5 141334941 141334941 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 4 16 0 ENST00000231484.3:c.2476C>T p.Leu826= p.L826= ENST00000231484 NM_016580.3 826 Ctg/Ttg 0 -PCDH15 UCSF GRCh37 10 55581869 55581869 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 135 18 140 0 ENST00000361849.3:c.5623A>G p.Thr1875Ala p.T1875A ENST00000361849 NM_001142768.1 1875 Aca/Gca 0 -PCDH15 UCSF GRCh37 10 55591215 55591215 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 47 85 0 ENST00000361849.3:c.4062C>T p.Ile1354= p.I1354= ENST00000361849 NM_001142768.1 1354 atC/atT 0 -PCDH9 UCSF GRCh37 13 66879031 66879031 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 9 66 0 ENST00000544246.1:c.3470C>T p.Pro1157Leu p.P1157L ENST00000544246 NM_203487.2 1157 cCt/cTt 0 -PCDHA1 UCSF GRCh37 5 140167217 140167217 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 26 37 0 ENST00000504120.2:c.1342G>A p.Val448Met p.V448M ENST00000504120 NM_018900.2 448 Gtg/Atg 0 -PCDHA2 UCSF GRCh37 5 140176090 140176090 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 8 15 0 ENST00000526136.1:c.1541G>A p.Ser514Asn p.S514N ENST00000526136 NM_018905.2 514 aGc/aAc 0 -PCDHA3 UCSF GRCh37 5 140182041 140182041 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 33 76 0 ENST00000522353.2:c.1259C>T p.Ala420Val p.A420V ENST00000522353 NM_018906.2 420 gCc/gTc 0 -PCDHB12 UCSF GRCh37 5 140590444 140590444 + synonymous_variant Silent SNP C C G NOVEL P01_Rec Untested WXS Illumina HiSeq 19 4 17 1 ENST00000239450.2:c.1965C>G p.Thr655= p.T655= ENST00000239450 NM_018932.3 655 acC/acG 0 -PCDHB16 UCSF GRCh37 5 140564227 140564227 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 8 30 0 ENST00000361016.2:c.2093C>T p.Ser698Leu p.S698L ENST00000361016 NM_020957.1 698 tCg/tTg 0 -PCDHB3 UCSF GRCh37 5 140481391 140481391 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 28 64 0 ENST00000231130.2:c.1158G>A p.Glu386= p.E386= ENST00000231130 NM_018937.2 386 gaG/gaA 0 -PCDHB8 UCSF GRCh37 5 140559730 140559730 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 15 38 0 ENST00000239444.2:c.2115G>A p.Ser705= p.S705= ENST00000239444 NM_019120.3 705 tcG/tcA 0 -PCDHGA1 UCSF GRCh37 5 140710722 140710722 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 51 104 0 ENST00000517417.1:c.471G>A p.Gly157= p.G157= ENST00000517417 NM_018912.2 157 ggG/ggA 0 -PCDHGB1 UCSF GRCh37 5 140729899 140729899 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 8 25 0 ENST00000523390.1:c.72C>T p.Cys24= p.C24= ENST00000523390 NM_018922.2 24 tgC/tgT 0 -PCDHGB7 UCSF GRCh37 5 140798736 140798736 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 11 75 0 ENST00000398594.2:c.1310C>T p.Thr437Ile p.T437I ENST00000398594 NM_018927.3 437 aCc/aTc 0 -PCDHGC4 UCSF GRCh37 5 140866462 140866462 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 23 40 0 ENST00000306593.1:c.1722C>T p.Ser574= p.S574= ENST00000306593 NM_018928.2 574 tcC/tcT 0 -PCDHGC5 UCSF GRCh37 5 140868812 140868812 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 10 21 0 ENST00000252087.1:c.5G>A p.Gly2Glu p.G2E ENST00000252087 NM_018929.2 2 gGg/gAg 0 -PCK2 UCSF GRCh37 14 24568906 24568906 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 14 29 0 ENST00000216780.4:c.992C>T p.Ala331Val p.A331V ENST00000216780 NM_004563.2 331 gCt/gTt 0 -PCLO UCSF GRCh37 7 82579900 82579900 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 99 23 81 0 ENST00000333891.9:c.10004C>T p.Ala3335Val p.A3335V ENST00000333891 NM_033026.5 3335 gCa/gTa 0 -PCNT UCSF GRCh37 21 47766078 47766078 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 10 24 0 ENST00000359568.5:c.676C>T p.Leu226= p.L226= ENST00000359568 NM_006031.5 226 Ctg/Ttg 0 -PDCD11 UCSF GRCh37 10 105202186 105202186 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 23 38 0 ENST00000369797.3:c.4924G>A p.Ala1642Thr p.A1642T ENST00000369797 NM_014976.1 1642 Gct/Act 0 -PDCD6IP UCSF GRCh37 3 33877759 33877759 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 39 95 0 ENST00000457054.2:c.1072+1G>A p.X358_splice ENST00000457054 NM_013374.5 0 -PDE4A UCSF GRCh37 19 10577842 10577842 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 18 37 0 ENST00000352831.6:c.2206G>A p.Ala736Thr p.A736T ENST00000352831 NM_001111307.1 736 Gcg/Acg 0 -PDE5A UCSF GRCh37 4 120463649 120463649 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 23 53 0 ENST00000354960.3:c.1537G>A p.Glu513Lys p.E513K ENST00000354960 NM_001083.3 513 Gag/Aag 0 -PDE8A UCSF GRCh37 15 85634350 85634350 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 24 43 0 ENST00000310298.4:c.790C>T p.Pro264Ser p.P264S ENST00000310298 264 Cct/Tct 0 -PDGFRL UCSF GRCh37 8 17491717 17491717 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 74 16 71 0 ENST00000541323.1:c.934C>T p.Gln312Ter p.Q312* ENST00000541323 NM_006207.2 312 Cag/Tag 0 -PDIA4 UCSF GRCh37 7 148703056 148703056 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 4 20 0 ENST00000286091.4:c.1221G>A p.Lys407= p.K407= ENST00000286091 NM_004911.4 407 aaG/aaA 0 -PDPK1 UCSF GRCh37 16 2607947 2607947 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 16 75 0 ENST00000342085.4:c.268G>A p.Glu90Lys p.E90K ENST00000342085 NM_002613.4 90 Gaa/Aaa 0 -PDPR UCSF GRCh37 16 70165289 70165289 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 88 34 161 0 ENST00000288050.4:c.814C>T p.Pro272Ser p.P272S ENST00000288050 NM_017990.3 272 Ccc/Tcc 0 -PDS5B UCSF GRCh37 13 33275510 33275510 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 86 44 123 0 ENST00000315596.10:c.1791C>T p.Phe597= p.F597= ENST00000315596 NM_015032.3 597 ttC/ttT 0 -PEG3 UCSF GRCh37 19 57326617 57326617 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 4 64 0 ENST00000326441.9:c.3193G>A p.Gly1065Ser p.G1065S ENST00000326441 NM_006210.2 1065 Ggc/Agc 0 -PELI2 UCSF GRCh37 14 56763632 56763632 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 22 65 0 ENST00000267460.4:c.1011G>A p.Met337Ile p.M337I ENST00000267460 NM_021255.2 337 atG/atA 0 -PER2 UCSF GRCh37 2 239161738 239161738 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 6 20 0 ENST00000254657.3:c.2926G>A p.Ala976Thr p.A976T ENST00000254657 NM_022817.2 976 Gcc/Acc 0 -PFAS UCSF GRCh37 17 8166462 8166462 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 11 54 0 ENST00000314666.6:c.1446G>A p.Gly482= p.G482= ENST00000314666 NM_012393.2 482 ggG/ggA 0 -PFAS UCSF GRCh37 17 8167880 8167880 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 3 14 0 ENST00000314666.6:c.2010G>A p.Arg670= p.R670= ENST00000314666 NM_012393.2 670 agG/agA 0 -PFKFB2 UCSF GRCh37 1 207252331 207252331 + downstream_gene_variant 3'Flank SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 6 27 0 ENST00000367080 NM_006212.2 0 -PGBD3 UCSF GRCh37 10 50723790 50723790 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 173 20 160 0 ENST00000374127.3:c.1371C>T p.Asn457= p.N457= ENST00000374127 NM_170753.3 457 aaC/aaT 0 -PGM1 UCSF GRCh37 1 64117389 64117389 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 8 35 0 ENST00000371083.4:c.1384G>A p.Asp462Asn p.D462N ENST00000371083 NM_001172818.1 462 Gac/Aac 0 -PGR UCSF GRCh37 11 100999666 100999666 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 11 16 0 ENST00000325455.5:c.136C>T p.Pro46Ser p.P46S ENST00000325455 NM_001202474.3 46 Cct/Tct 0 -PHC2 UCSF GRCh37 1 33820166 33820166 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 7 16 0 ENST00000257118.5:c.1391C>T p.Pro464Leu p.P464L ENST00000257118 NM_198040.2 464 cCc/cTc 0 -PHF17 UCSF GRCh37 4 129778576 129778576 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 87 58 115 0 ENST00000226319.6:c.948C>T p.Ser316= p.S316= ENST00000226319 NM_199320.2 316 agC/agT 0 -PHF2 UCSF GRCh37 9 96425291 96425291 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 64 9 42 0 ENST00000359246.4:c.1801G>A p.Ala601Thr p.A601T ENST00000359246 NM_005392.3 601 Gcc/Acc 0 -PHF2 UCSF GRCh37 9 96439887 96439887 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 137 41 105 0 ENST00000359246.4:c.3220G>A p.Gly1074Ser p.G1074S ENST00000359246 NM_005392.3 1074 Ggc/Agc 0 -PHF2 UCSF GRCh37 9 96437996 96437996 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 7 22 0 ENST00000359246.4:c.2757G>A p.Arg919= p.R919= ENST00000359246 NM_005392.3 919 agG/agA 0 -PHF21A UCSF GRCh37 11 45991440 45991440 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 11 17 0 ENST00000418153.2:c.625C>T p.Pro209Ser p.P209S ENST00000418153 209 Cct/Tct 0 -PI4KA UCSF GRCh37 22 21107225 21107225 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 81 50 93 0 ENST00000255882.6:c.2953G>A p.Val985Met p.V985M ENST00000255882 NM_058004.3 985 Gtg/Atg 0 -PI4KA UCSF GRCh37 22 21104219 21104219 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 18 3 18 0 ENST00000255882.6:c.3217C>T p.Pro1073Ser p.P1073S ENST00000255882 NM_058004.3 1073 Cct/Tct 0 -PIAS1 UCSF GRCh37 15 68438994 68438994 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 40 121 0 ENST00000249636.6:c.784G>A p.Val262Ile p.V262I ENST00000249636 NM_016166.1 262 Gta/Ata 0 -PIBF1 UCSF GRCh37 13 73357725 73357725 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 106 16 100 0 ENST00000326291.6:c.118C>T p.Arg40Ter p.R40* ENST00000326291 NM_006346.2 40 Cga/Tga 0 -PIGM UCSF GRCh37 1 160000672 160000672 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 92 16 109 0 ENST00000368090.2:c.858G>A p.Trp286Ter p.W286* ENST00000368090 NM_145167.2 286 tgG/tgA 0 -PIGX UCSF GRCh37 3 196454922 196454922 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 23 136 0 ENST00000296333.5:c.447C>T p.His149= p.H149= ENST00000296333 NM_001166304.1 149 caC/caT 0 -PILRA UCSF GRCh37 7 99997491 99997491 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 12 47 0 ENST00000198536.2:c.873C>T p.Ser291= p.S291= ENST00000198536 NM_013439.2 291 agC/agT 0 -PITPNM3 UCSF GRCh37 17 6387053 6387053 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 18 8 13 0 ENST00000262483.8:c.371C>T p.Ser124Phe p.S124F ENST00000262483 NM_031220.3 124 tCc/tTc 0 -PITPNM3 UCSF GRCh37 17 6381403 6381403 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 12 24 0 ENST00000262483.8:c.792G>A p.Gly264= p.G264= ENST00000262483 NM_031220.3 264 ggG/ggA 0 -PIWIL4 UCSF GRCh37 11 94340784 94340784 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 51 9 44 0 ENST00000299001.6:c.1818G>A p.Glu606= p.E606= ENST00000299001 NM_152431.2 606 gaG/gaA 0 -PKHD1L1 UCSF GRCh37 8 110457088 110457088 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 119 84 146 0 ENST00000378402.5:c.4990G>A p.Val1664Met p.V1664M ENST00000378402 NM_177531.4 1664 Gtg/Atg 0 -PKHD1L1 UCSF GRCh37 8 110447525 110447525 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 133 33 146 0 ENST00000378402.5:c.3447C>T p.Phe1149= p.F1149= ENST00000378402 NM_177531.4 1149 ttC/ttT 0 -PKP3 UCSF GRCh37 11 397590 397590 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 7 23 0 ENST00000331563.2:c.996C>T p.Asp332= p.D332= ENST00000331563 NM_007183.2 332 gaC/gaT 0 -PLA2G2A UCSF GRCh37 1 20304605 20304605 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 15 34 0 ENST00000375111.3:c.195C>T p.Val65= p.V65= ENST00000375111 NM_001161727.1 65 gtC/gtT 0 -PLA2G5 UCSF GRCh37 1 20417094 20417094 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 7 45 0 ENST00000375108.3:c.326C>T p.Ala109Val p.A109V ENST00000375108 NM_000929.2 109 gCc/gTc 0 -PLAC1 UCSF GRCh37 X 133700690 133700690 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 21 49 0 ENST00000359237.4:c.23G>A p.Gly8Glu p.G8E ENST00000359237 NM_021796.3 8 gGa/gAa 0 -PLAC8 UCSF GRCh37 4 84026056 84026056 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 27 83 0 ENST00000426923.2:c.236G>A p.Gly79Asp p.G79D ENST00000426923 NM_001130715.1 79 gGc/gAc 0 -PLB1 UCSF GRCh37 2 28847925 28847925 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 23 45 0 ENST00000327757.5:c.3529G>A p.Asp1177Asn p.D1177N ENST00000327757 NM_153021.4 1177 Gac/Aac 0 -PLCB1 UCSF GRCh37 20 8626764 8626764 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 14 61 0 ENST00000338037.6:c.400G>A p.Val134Ile p.V134I ENST00000338037 NM_015192.3 134 Gtt/Att 0 -PLCD1 UCSF GRCh37 3 38049598 38049598 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 4 38 0 ENST00000463876.1:c.2155G>A p.Ala719Thr p.A719T ENST00000463876 NM_001130964.1 719 Gcc/Acc 0 -PLCD4 UCSF GRCh37 2 219492808 219492808 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 24 44 0 ENST00000450993.2:c.829G>A p.Asp277Asn p.D277N ENST00000450993 NM_032726.3 277 Gat/Aat 0 -PLCE1 UCSF GRCh37 10 95892040 95892040 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 45 82 0 ENST00000371380.3:c.1316G>A p.Gly439Asp p.G439D ENST00000371380 439 gGt/gAt 0 -PLCL2 UCSF GRCh37 3 17051554 17051554 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 73 10 159 0 ENST00000418129.2:c.338C>T p.Ala113Val p.A113V ENST00000418129 NM_001144382.1 113 gCa/gTa 0 -PLD5 UCSF GRCh37 1 242253290 242253290 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 121 25 125 0 ENST00000536534.2:c.1477G>A p.Asp493Asn p.D493N ENST00000536534 493 Gac/Aac 0 -PLDN UCSF GRCh37 15 45898679 45898679 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 85 13 105 0 ENST00000220531.3:c.486G>A p.Lys162= p.K162= ENST00000220531 NM_012388.2 162 aaG/aaA 0 -PLEKHG5 UCSF GRCh37 1 6535115 6535115 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 79 17 51 0 ENST00000537245.1:c.531G>A p.Lys177= p.K177= ENST00000537245 NM_001265592.1 177 aaG/aaA 0 -PLIN4 UCSF GRCh37 19 4511488 4511488 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 89 61 116 0 ENST00000301286.3:c.2442C>T p.Thr814= p.T814= ENST00000301286 NM_001080400.1 814 acC/acT 0 -PLK1 UCSF GRCh37 16 23700000 23700000 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 9 32 0 ENST00000300093.4:c.1204G>A p.Asp402Asn p.D402N ENST00000300093 NM_005030.3 402 Gat/Aat 0 -PLK3 UCSF GRCh37 1 45270013 45270013 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 23 17 0 ENST00000372201.4:c.1345G>A p.Glu449Lys p.E449K ENST00000372201 NM_004073.2 449 Gaa/Aaa 0 -PLS3 UCSF GRCh37 X 114883769 114883769 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 10 29 1 ENST00000420625.2:c.1781G>A p.Arg594Lys p.R594K ENST00000420625 NM_001136025.3 594 aGa/aAa 0 -PLXNA2 UCSF GRCh37 1 208218077 208218077 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 7 17 0 ENST00000367033.3:c.3650G>A p.Gly1217Asp p.G1217D ENST00000367033 NM_025179.3 1217 gGc/gAc 0 -PLXNA4 UCSF GRCh37 7 131883310 131883310 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 14 21 0 ENST00000359827.3:c.2672C>T p.Ala891Val p.A891V ENST00000359827 891 gCc/gTc 0 -PLXNA4 UCSF GRCh37 7 131888097 131888097 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 9 28 0 ENST00000359827.3:c.2380C>T p.Pro794Ser p.P794S ENST00000359827 794 Cca/Tca 0 -PLXNB3 UCSF GRCh37 X 153036320 153036320 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 3 12 0 ENST00000538966.1:c.2187G>A p.Arg729= p.R729= ENST00000538966 NM_001163257.1 729 cgG/cgA 0 -PLXNC1 UCSF GRCh37 12 94697645 94697645 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 16 105 0 ENST00000258526.4:c.4500G>A p.Met1500Ile p.M1500I ENST00000258526 NM_005761.2 1500 atG/atA 0 -PNKD UCSF GRCh37 2 219209653 219209653 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 8 45 0 ENST00000273077.4:c.1107C>T p.Ala369= p.A369= ENST00000273077 NM_015488.4 369 gcC/gcT 0 -PNLDC1 UCSF GRCh37 6 160224997 160224997 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 83 21 102 0 ENST00000610273.1:c.216G>A p.Lys72= p.K72= ENST00000610273 NM_173516.2 72 aaG/aaA 0 -PNMA3 UCSF GRCh37 X 152225506 152225506 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0025 P01_Rec Untested WXS Illumina HiSeq 7 24 24 0 ENST00000447306.1:c.94G>A p.Glu32Lys p.E32K ENST00000447306 NM_013364.4 32 Gag/Aag 0 -PNMA5 UCSF GRCh37 X 152159173 152159173 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 4 28 0 ENST00000439251.1:c.970C>T p.Leu324Phe p.L324F ENST00000439251 NM_001103150.1 324 Ctc/Ttc 0 -POLE UCSF GRCh37 12 133253196 133253196 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 8 35 0 ENST00000320574.5:c.845C>T p.Pro282Leu p.P282L ENST00000320574 NM_006231.2 282 cCc/cTc 0 -POLE2 UCSF GRCh37 14 50130071 50130071 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 16 53 0 ENST00000216367.5:c.717C>T p.Ala239= p.A239= ENST00000216367 NM_002692.3 239 gcC/gcT 0 -POLR1A UCSF GRCh37 2 86258542 86258542 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 11 33 0 ENST00000263857.6:c.4489G>A p.Ala1497Thr p.A1497T ENST00000263857 1497 Gcc/Acc 0 -POLR1B UCSF GRCh37 2 113300155 113300155 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 13 22 0 ENST00000263331.5:c.84G>A p.Arg28= p.R28= ENST00000263331 NM_019014.4 28 cgG/cgA 0 -POLR2A UCSF GRCh37 17 7400674 7400674 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 4 24 0 ENST00000322644.6:c.820-1G>A p.X274_splice ENST00000322644 NM_000937.4 0 -POLR2E UCSF GRCh37 19 1093980 1093980 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 8 18 0 ENST00000215587.7:c.155G>A p.Arg52Gln p.R52Q ENST00000215587 52 cGg/cAg 0 -POMT2 UCSF GRCh37 14 77755164 77755164 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 22 57 0 ENST00000261534.4:c.1194C>T p.Asp398= p.D398= ENST00000261534 NM_013382.5 398 gaC/gaT 0 -POTEE UCSF GRCh37 2 132010673 132010673 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 119 25 224 0 ENST00000356920.5:c.1778+1G>A p.X593_splice ENST00000356920 NM_001083538.1 0 -POTEF UCSF GRCh37 2 130832864 130832864 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 24 88 0 ENST00000357462.5:c.2181C>T p.Pro727= p.P727= ENST00000357462 727 ccC/ccT 0 -PPFIA2 UCSF GRCh37 12 81734921 81734921 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 9 26 80 0 ENST00000549396.1:c.2329C>T p.Pro777Ser p.P777S ENST00000549396 NM_003625.3 777 Cct/Tct 0 -PPFIBP1 UCSF GRCh37 12 27844782 27844782 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 121 22 122 0 ENST00000318304.8:c.2804G>A p.Gly935Glu p.G935E ENST00000318304 NM_177444.2 935 gGa/gAa 0 -PPHLN1 UCSF GRCh37 12 42745695 42745695 + stop_gained Nonsense_Mutation SNP C C A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 9 38 0 ENST00000395568.2:c.81C>A p.Tyr27Ter p.Y27* ENST00000395568 NM_016488.6 27 taC/taA 0 -PPIL1 UCSF GRCh37 6 36839493 36839493 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 169 43 130 0 ENST00000373699.5:c.211+1G>A p.X71_splice ENST00000373699 NM_016059.4 0 -PPIP5K2 UCSF GRCh37 5 102526558 102526558 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 36 128 0 ENST00000321521.9:c.3305C>T p.Ser1102Phe p.S1102F ENST00000321521 1102 tCc/tTc 0 -PPIP5K2 UCSF GRCh37 5 102526637 102526637 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 89 51 151 0 ENST00000321521.9:c.3384C>T p.Ser1128= p.S1128= ENST00000321521 1128 tcC/tcT 0 -PPL UCSF GRCh37 16 4934721 4934721 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 105 67 135 0 ENST00000345988.2:c.3935G>A p.Arg1312Lys p.R1312K ENST00000345988 NM_002705.4 1312 aGg/aAg 0 -PPM1G UCSF GRCh37 2 27606392 27606392 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 12 43 0 ENST00000344034.4:c.1042G>A p.Asp348Asn p.D348N ENST00000344034 NM_177983.2 348 Gac/Aac 0 -PPM1H UCSF GRCh37 12 63114037 63114037 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 42 112 0 ENST00000228705.6:c.987G>A p.Glu329= p.E329= ENST00000228705 NM_020700.1 329 gaG/gaA 0 -PPP2R1B UCSF GRCh37 11 111608252 111608252 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 6 25 0 ENST00000311129.5:c.1831G>A p.Asp611Asn p.D611N ENST00000311129 NM_181699.2 611 Gac/Aac 0 -PPP6R2 UCSF GRCh37 22 50876724 50876724 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 12 15 0 ENST00000395741.3:c.1883C>T p.Pro628Leu p.P628L ENST00000395741 628 cCc/cTc 0 -PPRC1 UCSF GRCh37 10 103899228 103899228 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 22 34 0 ENST00000278070.2:c.963C>T p.Thr321= p.T321= ENST00000278070 NM_015062.3 321 acC/acT 0 -PRB1 UCSF GRCh37 12 11506577 11506577 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 10 42 0 ENST00000500254.2:c.313+147C>T *105* ENST00000500254 NM_199353.2 0 -PRB4 UCSF GRCh37 12 11461462 11461462 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 172 22 157 0 ENST00000279575.1:c.455C>T p.Ser152Phe p.S152F ENST00000279575 NM_001261399.1 152 tCc/tTc 0 -PRCC UCSF GRCh37 1 156770198 156770198 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 22 50 0 ENST00000271526.4:c.1422C>T p.Thr474= p.T474= ENST00000271526 NM_005973.4 474 acC/acT 0 -PRDM10 UCSF GRCh37 11 129785651 129785651 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 6 46 0 ENST00000358825.5:c.2442G>A p.Glu814= p.E814= ENST00000358825 NM_020228.2 814 gaG/gaA 0 -PRDM15 UCSF GRCh37 21 43258144 43258144 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 36 47 0 ENST00000269844.3:c.1998C>T p.Val666= p.V666= ENST00000269844 NM_022115.3 666 gtC/gtT 0 -PRDM2 UCSF GRCh37 1 14106686 14106686 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 30 44 0 ENST00000235372.7:c.2396G>A p.Cys799Tyr p.C799Y ENST00000235372 NM_012231.4 799 tGc/tAc 0 -PRDM5 UCSF GRCh37 4 121742370 121742370 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 132 24 141 0 ENST00000264808.3:c.431G>A p.Gly144Glu p.G144E ENST00000264808 NM_018699.2 144 gGg/gAg 0 -PRDM6 UCSF GRCh37 5 122515955 122515955 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.003,1000g2011may_all_0.00696 P01_Rec Untested WXS Illumina HiSeq 44 5 39 0 ENST00000407847.4:c.1611C>T p.Ala537= p.A537= ENST00000407847 NM_001136239.1 537 gcC/gcT 0 -PRDM8 UCSF GRCh37 4 81122444 81122444 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 27 35 0 ENST00000339711.4:c.220G>A p.Val74Ile p.V74I ENST00000339711 NM_020226.3 74 Gta/Ata 0 -PREX2 UCSF GRCh37 8 68939559 68939559 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 11 92 1 ENST00000288368.4:c.543+1G>A p.X181_splice ENST00000288368 NM_024870.2 0 -PRICKLE2 UCSF GRCh37 3 64184506 64184506 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 12 69 0 ENST00000295902.6:c.98C>T p.Ala33Val p.A33V ENST00000295902 NM_198859.3 33 gCt/gTt 0 -PRKAB1 UCSF GRCh37 12 120114413 120114413 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 28 51 0 ENST00000229328.5:c.604G>A p.Ala202Thr p.A202T ENST00000229328 NM_006253.4 202 Gca/Aca 0 -PRKCD UCSF GRCh37 3 53222751 53222751 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 13 54 0 ENST00000394729.2:c.1431C>T p.Asp477= p.D477= ENST00000394729 NM_212539.1 477 gaC/gaT 0 -PRND UCSF GRCh37 20 4705476 4705476 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 8 20 0 ENST00000305817.2:c.279C>T p.Gly93= p.G93= ENST00000305817 NM_012409.2 93 ggC/ggT 0 -PROC UCSF GRCh37 2 128186326 128186326 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 9 29 0 ENST00000234071.3:c.1190C>T p.Ala397Val p.A397V ENST00000234071 NM_000312.3 397 gCc/gTc 0 -PROL1 UCSF GRCh37 4 71275779 71275779 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 56 7 62 0 ENST00000399575.2:c.734C>T p.Ala245Val p.A245V ENST00000399575 NM_021225.4 245 gCc/gTc 0 -PROP1 UCSF GRCh37 5 177421246 177421246 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 10 32 0 ENST00000308304.2:c.203C>T p.Ser68Phe p.S68F ENST00000308304 NM_006261.4 68 tCc/tTc 0 -PROX1 UCSF GRCh37 1 214170923 214170923 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 26 74 0 ENST00000366958.4:c.1045G>A p.Ala349Thr p.A349T ENST00000366958 NM_001270616.1 349 Gct/Act 0 -PRPF38B UCSF GRCh37 1 109242410 109242410 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 91 34 111 0 ENST00000370025.4:c.1409G>A p.Arg470Gln p.R470Q ENST00000370025 NM_018061.2 470 cGa/cAa 0 -PRR14L UCSF GRCh37 22 32112452 32112452 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 133 26 154 0 ENST00000327423.6:c.1373C>T p.Ser458Phe p.S458F ENST00000327423 NM_173566.2 458 tCt/tTt 0 -PRR5L UCSF GRCh37 11 36422804 36422804 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 7 13 0 ENST00000378867.3:c.133C>T p.Leu45= p.L45= ENST00000378867 NM_024841.4 45 Ctg/Ttg 0 -PRRC2B UCSF GRCh37 9 134351008 134351008 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 9 27 0 ENST00000357304.4:c.3492G>A p.Arg1164= p.R1164= ENST00000357304 NM_013318.3 1164 agG/agA 0 -PRUNE2 UCSF GRCh37 9 79465386 79465386 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 8 62 0 ENST00000376718.3:c.337C>T p.Leu113= p.L113= ENST00000376718 NM_015225.2 113 Ctg/Ttg 0 -PSG6 UCSF GRCh37 19 43414818 43414818 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 139 79 157 0 ENST00000292125.2:c.620C>T p.Thr207Ile p.T207I ENST00000292125 NM_002782.4 207 aCa/aTa 0 -PSG7 UCSF GRCh37 19 43430146 43430146 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 98 80 150 0 ENST00000406070.2:c.1022T>C p.Phe341Ser p.F341S ENST00000406070 NM_002783.2 341 tTc/tCc 0 -PSMD1 UCSF GRCh37 2 231944942 231944942 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 8 45 0 ENST00000308696.6:c.1327C>T p.Leu443Phe p.L443F ENST00000308696 NM_002807.3 443 Ctc/Ttc 0 -PSMD13 UCSF GRCh37 11 248855 248855 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 32 45 0 ENST00000431206.2:c.654C>T p.Leu218= p.L218= ENST00000431206 NM_175932.2 218 ctC/ctT 0 -PSMD2 UCSF GRCh37 3 184017696 184017696 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 9 25 74 0 ENST00000310118.4:c.192+1G>A p.X64_splice ENST00000310118 NM_002808.4 0 -PSPC1 UCSF GRCh37 13 20346466 20346466 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 13 73 0 ENST00000338910.4:c.590G>A p.Gly197Glu p.G197E ENST00000338910 NM_001042414.2 197 gGa/gAa 0 -PSTPIP1 UCSF GRCh37 15 77323605 77323605 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 12 37 0 ENST00000558012.1:c.727G>A p.Val243Ile p.V243I ENST00000558012 NM_003978.3 243 Gtc/Atc 0 -PTEN UCSF GRCh37 10 89690824 89690824 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 25 57 0 ENST00000371953.3:c.231C>T p.Asp77= p.D77= ENST00000371953 NM_000314.4 77 gaC/gaT 0 -PTGER4 UCSF GRCh37 5 40692104 40692104 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 6 47 0 ENST00000302472.3:c.1091C>T p.Ser364Leu p.S364L ENST00000302472 NM_000958.2 364 tCa/tTa 0 -PTGS1 UCSF GRCh37 9 125143830 125143830 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 13 31 0 ENST00000362012.2:c.677G>A p.Gly226Glu p.G226E ENST00000362012 NM_000962.3 226 gGg/gAg 0 -PTK7 UCSF GRCh37 6 43109797 43109797 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 10 21 0 ENST00000481273.1:c.1921G>A p.Asp641Asn p.D641N ENST00000481273 NM_001270398.1 641 Gac/Aac 0 -PTK7 UCSF GRCh37 6 43098292 43098292 + synonymous_variant Silent SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 33 8 9 0 ENST00000481273.1:c.729A>G p.Val243= p.V243= ENST00000481273 NM_001270398.1 243 gtA/gtG 0 -PTPN13 UCSF GRCh37 4 87690936 87690936 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 55 22 66 0 ENST00000436978.1:c.4519G>A p.Val1507Ile p.V1507I ENST00000436978 NM_080685.2 1507 Gta/Ata 0 -PTPN13 UCSF GRCh37 4 87731108 87731108 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 53 85 0 ENST00000436978.1:c.7285G>A p.Val2429Ile p.V2429I ENST00000436978 NM_080685.2 2429 Gtt/Att 0 -PTPN14 UCSF GRCh37 1 214546053 214546053 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 29 79 0 ENST00000366956.5:c.3036+1G>A p.X1012_splice ENST00000366956 NM_005401.4 0 -PTPN18 UCSF GRCh37 2 131128349 131128349 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 5 28 0 ENST00000175756.5:c.828G>A p.Gln276= p.Q276= ENST00000175756 NM_014369.3 276 caG/caA 0 -PTPRD UCSF GRCh37 9 8524986 8524986 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 7 100 0 ENST00000356435.5:c.618G>A p.Glu206= p.E206= ENST00000356435 206 gaG/gaA 0 -PTPRH UCSF GRCh37 19 55708101 55708101 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 9 13 0 ENST00000376350.3:c.2046C>T p.Val682= p.V682= ENST00000376350 NM_002842.3 682 gtC/gtT 0 -PTPRJ UCSF GRCh37 11 48145317 48145317 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 33 60 0 ENST00000418331.2:c.769G>A p.Val257Ile p.V257I ENST00000418331 NM_002843.3 257 Gtc/Atc 0 -PTPRQ UCSF GRCh37 12 81064145 81064145 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 13 100 0 ENST00000266688.5:c.6464G>A p.Arg2155Gln p.R2155Q ENST00000266688 2155 cGa/cAa 0 -PTPRS UCSF GRCh37 19 5231373 5231373 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 3 11 0 ENST00000357368.4:c.2103G>A p.Glu701= p.E701= ENST00000357368 NM_002850.3 701 gaG/gaA 0 -PTPRT UCSF GRCh37 20 41514503 41514503 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 35 10 29 0 ENST00000373198.4:c.158C>T p.Thr53Ile p.T53I ENST00000373198 NM_133170.3 53 aCc/aTc 0 -PTTG1IP UCSF GRCh37 21 46276217 46276217 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 13 26 0 ENST00000330938.3:c.340G>A p.Ala114Thr p.A114T ENST00000330938 NM_004339.3 114 Gcc/Acc 0 -PWP2 UCSF GRCh37 21 45550639 45550639 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 4 39 0 ENST00000291576.7:c.2746G>A p.Glu916Lys p.E916K ENST00000291576 NM_005049.2 916 Gag/Aag 0 -PXDNL UCSF GRCh37 8 52321585 52321585 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 20 30 0 ENST00000356297.4:c.2599C>T p.Pro867Ser p.P867S ENST00000356297 NM_144651.4 867 Ccc/Tcc 0 -PYGO2 UCSF GRCh37 1 154932010 154932010 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 9 21 0 ENST00000368457.2:c.466C>T p.Pro156Ser p.P156S ENST00000368457 NM_138300.3 156 Ccc/Tcc 0 -QARS1 UCSF GRCh37 3 49136792 49136792 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 56 7 28 0 ENST00000306125.6:c.1599C>T p.Asn533= p.N533= ENST00000306125 NM_001272073.1 533 aaC/aaT 0 -QKI UCSF GRCh37 6 163986999 163986999 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 29 60 0 ENST00000361752.3:c.935-754G>A *312* ENST00000361752 NM_006775.2 0 -RAB3GAP2 UCSF GRCh37 1 220340977 220340977 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 59 114 0 ENST00000358951.2:c.2847G>A p.Gln949= p.Q949= ENST00000358951 NM_012414.3 949 caG/caA 0 -RAB5B UCSF GRCh37 12 56380896 56380896 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 33 20 44 0 ENST00000360299.5:c.152G>A p.Ser51Asn p.S51N ENST00000360299 NM_002868.3 51 aGc/aAc 0 -RAB7A UCSF GRCh37 3 128514263 128514263 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 18 79 0 ENST00000265062.3:c.53G>A p.Gly18Glu p.G18E ENST00000265062 NM_004637.5 18 gGa/gAa 0 -RABL2A UCSF GRCh37 2 114392709 114392709 + splice_donor_variant Splice_Site SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 24 10 22 0 ENST00000393167.3:c.297+2T>C p.X99_splice ENST00000393167 NM_013412.2 0 -RAD17 UCSF GRCh37 5 68669849 68669849 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 100 17 119 0 ENST00000509734.1:c.235G>A p.Glu79Lys p.E79K ENST00000509734 79 Gaa/Aaa 0 -RAD50 UCSF GRCh37 5 131926937 131926937 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 104 23 95 0 ENST00000265335.6:c.1474G>A p.Glu492Lys p.E492K ENST00000265335 492 Gag/Aag 0 -RAG1 UCSF GRCh37 11 36595248 36595248 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 19 55 0 ENST00000299440.5:c.394C>T p.Pro132Ser p.P132S ENST00000299440 NM_000448.2 132 Cct/Tct 0 -RALGAPB UCSF GRCh37 20 37150153 37150153 + synonymous_variant Silent SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 56 45 102 0 ENST00000262879.6:c.1431A>G p.Gln477= p.Q477= ENST00000262879 477 caA/caG 0 -RALYL UCSF GRCh37 8 85441705 85441705 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 126 23 113 0 ENST00000517638.1:c.188G>A p.Gly63Glu p.G63E ENST00000517638 NM_001100391.1 63 gGa/gAa 0 -RAPGEF2 UCSF GRCh37 4 160264305 160264305 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 32 96 0 ENST00000264431.4:c.2610C>T p.Phe870= p.F870= ENST00000264431 NM_014247.2 870 ttC/ttT 0 -RASA3 UCSF GRCh37 13 114766378 114766378 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 47 12 52 0 ENST00000334062.7:c.1773G>A p.Lys591= p.K591= ENST00000334062 NM_007368.2 591 aaG/aaA 0 -RASGRP1 UCSF GRCh37 15 38852131 38852131 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 23 45 0 ENST00000310803.5:c.111C>T p.Ser37= p.S37= ENST00000310803 NM_005739.3 37 tcC/tcT 0 -RASGRP3 UCSF GRCh37 2 33774783 33774783 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 183 31 170 0 ENST00000403687.3:c.1507C>T p.Leu503Phe p.L503F ENST00000403687 NM_001139488.1 503 Ctc/Ttc 0 -RB1 UCSF GRCh37 13 49047527 49047527 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 44 36 101 0 ENST00000267163.4:c.2520+1G>A p.X840_splice ENST00000267163 NM_000321.2 0 -RBBP4 UCSF GRCh37 1 33134587 33134587 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 71 79 0 ENST00000373493.5:c.615G>A p.Trp205Ter p.W205* ENST00000373493 NM_005610.2 205 tgG/tgA 0 -RBL1 UCSF GRCh37 20 35672623 35672623 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 38 68 0 ENST00000373664.3:c.1636G>A p.Gly546Arg p.G546R ENST00000373664 NM_002895.3 546 Ggg/Agg 0 -RBM12 UCSF GRCh37 20 34241488 34241488 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 109 69 158 0 ENST00000374114.3:c.1757G>A p.Gly586Glu p.G586E ENST00000374114 NM_001198838.1 586 gGa/gAa 0 -RBM12B UCSF GRCh37 8 94748329 94748329 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 107 60 121 0 ENST00000399300.2:c.310G>A p.Asp104Asn p.D104N ENST00000399300 NM_203390.2 104 Gac/Aac 0 -RBM5 UCSF GRCh37 3 50144935 50144935 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 3 40 0 ENST00000347869.3:c.974G>A p.Gly325Asp p.G325D ENST00000347869 NM_005778.3 325 gGt/gAt 0 -RBP3 UCSF GRCh37 10 48388081 48388081 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 13 16 0 ENST00000224600.4:c.2797C>T p.Leu933= p.L933= ENST00000224600 NM_002900.2 933 Ctg/Ttg 0 -RECQL UCSF GRCh37 12 21639413 21639413 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 10 46 0 ENST00000421138.2:c.501G>A p.Lys167= p.K167= ENST00000421138 167 aaG/aaA 0 -RECQL5 UCSF GRCh37 17 73625024 73625024 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 14 34 0 ENST00000317905.5:c.2479G>A p.Glu827Lys p.E827K ENST00000317905 NM_004259.6 827 Gag/Aag 0 -RELN UCSF GRCh37 7 103194156 103194156 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 18 66 0 ENST00000428762.1:c.5920C>T p.Pro1974Ser p.P1974S ENST00000428762 NM_005045.3 1974 Cct/Tct 0 -RELN UCSF GRCh37 7 103194216 103194216 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 70 8 87 0 ENST00000428762.1:c.5860C>T p.Pro1954Ser p.P1954S ENST00000428762 NM_005045.3 1954 Cct/Tct 0 -REN UCSF GRCh37 1 204124220 204124220 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 6 27 0 ENST00000272190.8:c.1145G>A p.Gly382Glu p.G382E ENST00000272190 NM_000537.3 382 gGg/gAg 0 -REPS1 UCSF GRCh37 6 139265669 139265669 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 92 47 117 0 ENST00000258062.5:c.719G>A p.Ser240Asn p.S240N ENST00000258062 NM_031922.3 240 aGt/aAt 0 -RERE UCSF GRCh37 1 8526023 8526023 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 23 14 27 0 ENST00000337907.3:c.1165C>T p.Pro389Ser p.P389S ENST00000337907 NM_012102.3 389 Ccc/Tcc 0 -RERG UCSF GRCh37 12 15262121 15262121 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 50 24 65 0 ENST00000256953.2:c.523G>A p.Gly175Ser p.G175S ENST00000256953 NM_032918.2 175 Ggc/Agc 0 -RFWD3 UCSF GRCh37 16 74662375 74662375 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 23 69 0 ENST00000361070.4:c.1944G>A p.Arg648= p.R648= ENST00000361070 NM_018124.3 648 cgG/cgA 0 -RGL2 UCSF GRCh37 6 33263494 33263494 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 15 37 0 ENST00000497454.1:c.811C>T p.Leu271= p.L271= ENST00000497454 NM_004761.4 271 Ctg/Ttg 0 -RGMA UCSF GRCh37 15 93595396 93595396 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 4 10 0 ENST00000557301.1:c.496C>T p.Pro166Ser p.P166S ENST00000557301 NM_001166283.1 166 Ccc/Tcc 0 -RGS22 UCSF GRCh37 8 101011541 101011541 + missense_variant Missense_Mutation SNP C C G NOVEL P01_Rec Untested WXS Illumina HiSeq 24 6 69 0 ENST00000360863.6:c.2898G>C p.Trp966Cys p.W966C ENST00000360863 NM_015668.3 966 tgG/tgC 0 -RGS3 UCSF GRCh37 9 116359220 116359220 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 6 28 0 ENST00000374140.2:c.3584G>A p.Ser1195Asn p.S1195N ENST00000374140 NM_144488.5 1195 aGt/aAt 0 -RHOBTB2 UCSF GRCh37 8 22861992 22861992 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 7 13 0 ENST00000519685.1:c.111C>T p.Ile37= p.I37= ENST00000519685 NM_001160036.1 37 atC/atT 0 -RHOBTB2 UCSF GRCh37 8 22868110 22868110 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 25 40 0 ENST00000519685.1:c.1746C>T p.Thr582= p.T582= ENST00000519685 NM_001160036.1 582 acC/acT 0 -RHOT2 UCSF GRCh37 16 720939 720939 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 4 9 0 ENST00000315082.4:c.687G>A p.Val229= p.V229= ENST00000315082 NM_138769.2 229 gtG/gtA 0 -RHOU UCSF GRCh37 1 228879096 228879096 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 93 63 138 0 ENST00000366691.3:c.386G>A p.Ser129Asn p.S129N ENST00000366691 NM_021205.5 129 aGt/aAt 0 -RHOU UCSF GRCh37 1 228879263 228879263 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 107 16 119 0 ENST00000366691.3:c.553G>A p.Glu185Lys p.E185K ENST00000366691 NM_021205.5 185 Gaa/Aaa 0 -RIC3 UCSF GRCh37 11 8161680 8161680 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 5 61 0 ENST00000309737.6:c.185C>T p.Thr62Ile p.T62I ENST00000309737 62 aCt/aTt 0 -RIF1 UCSF GRCh37 2 152314421 152314421 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 78 20 76 0 ENST00000243326.5:c.2799G>A p.Gln933= p.Q933= ENST00000243326 933 caG/caA 0 -RIN1 UCSF GRCh37 11 66102639 66102639 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 4 9 0 ENST00000311320.4:c.631C>T p.Pro211Ser p.P211S ENST00000311320 NM_004292.2 211 Cct/Tct 0 -RIOK2 UCSF GRCh37 5 96514771 96514771 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 82 14 91 0 ENST00000283109.3:c.193G>A p.Glu65Lys p.E65K ENST00000283109 NM_018343.2 65 Gag/Aag 0 -RIPK2 UCSF GRCh37 8 90775185 90775185 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 85 14 110 0 ENST00000220751.4:c.302G>A p.Gly101Glu p.G101E ENST00000220751 NM_003821.5 101 gGa/gAa 0 -RIPK3 UCSF GRCh37 14 24805471 24805471 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 18 32 0 ENST00000216274.5:c.1467G>A p.Gln489= p.Q489= ENST00000216274 NM_006871.3 489 caG/caA 0 -RNASEH1 UCSF GRCh37 2 3593451 3593451 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 136 31 57 0 ENST00000315212.3:c.785C>T p.Pro262Leu p.P262L ENST00000315212 NM_002936.3 262 cCt/cTt 0 -RNF122 UCSF GRCh37 8 33408577 33408577 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 135 28 120 0 ENST00000256257.1:c.255G>A p.Lys85= p.K85= ENST00000256257 NM_024787.3 85 aaG/aaA 0 -RNF141 UCSF GRCh37 11 10536554 10536554 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 11 87 0 ENST00000265981.2:c.602C>T p.Ser201Phe p.S201F ENST00000265981 NM_016422.3 201 tCt/tTt 0 -RNF157 UCSF GRCh37 17 74148449 74148449 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 23 63 0 ENST00000269391.6:c.1908G>A p.Glu636= p.E636= ENST00000269391 NM_052916.2 636 gaG/gaA 0 -RNF17 UCSF GRCh37 13 25424490 25424490 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 6 27 0 ENST00000255324.5:c.3113G>A p.Gly1038Glu p.G1038E ENST00000255324 NM_031277.2 1038 gGg/gAg 0 -RNF186 UCSF GRCh37 1 20141433 20141433 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 6 16 0 ENST00000375121.2:c.162G>A p.Lys54= p.K54= ENST00000375121 NM_019062.1 54 aaG/aaA 0 -RNF19A UCSF GRCh37 8 101273935 101273935 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 14 70 0 ENST00000519449.1:c.1517G>A p.Gly506Glu p.G506E ENST00000519449 NM_015435.4 506 gGa/gAa 0 -RNF20 UCSF GRCh37 9 104324237 104324237 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 163 69 144 0 ENST00000389120.3:c.2695C>T p.Pro899Ser p.P899S ENST00000389120 NM_019592.6 899 Cca/Tca 0 -RNF213 UCSF GRCh37 17 78321193 78321193 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 18 38 0 ENST00000582970.1:c.9058C>T p.Gln3020Ter p.Q3020* ENST00000582970 NM_001256071.1 3020 Cag/Tag 0 -RNF41 UCSF GRCh37 12 56602029 56602029 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 30 7 29 0 ENST00000345093.4:c.416G>A p.Arg139His p.R139H ENST00000345093 NM_005785.3 139 cGc/cAc 0 -RNF43 UCSF GRCh37 17 56435144 56435144 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 19 34 0 ENST00000407977.2:c.1993C>T p.Pro665Ser p.P665S ENST00000407977 665 Cct/Tct 0 -RNGTT UCSF GRCh37 6 89614661 89614661 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 20 89 0 ENST00000369485.4:c.457G>A p.Val153Ile p.V153I ENST00000369485 NM_003800.3 153 Gtt/Att 0 -RNLS UCSF GRCh37 10 90034789 90034789 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 8 44 0 ENST00000371947.3:c.877G>A p.Val293Ile p.V293I ENST00000371947 NM_018363.3 293 Gta/Ata 0 -RNMT UCSF GRCh37 18 13742486 13742486 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 74 42 140 0 ENST00000383314.2:c.975-1G>A p.X325_splice ENST00000383314 0 -ROBO1 UCSF GRCh37 3 78689011 78689011 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 17 33 0 ENST00000464233.1:c.2920C>T p.Pro974Ser p.P974S ENST00000464233 NM_002941.3 974 Cca/Tca 0 -ROCK1 UCSF GRCh37 18 18690815 18690815 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 84 19 71 0 ENST00000399799.2:c.57G>A p.Arg19= p.R19= ENST00000399799 NM_005406.2 19 cgG/cgA 0 -ROS1 UCSF GRCh37 6 117609783 117609783 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 27 74 0 ENST00000368508.3:c.6916G>A p.Glu2306Lys p.E2306K ENST00000368508 NM_002944.2 2306 Gag/Aag 0 -ROS1 UCSF GRCh37 6 117686340 117686340 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 37 83 0 ENST00000368508.3:c.3001C>T p.Pro1001Ser p.P1001S ENST00000368508 NM_002944.2 1001 Cct/Tct 0 -RP1L1 UCSF GRCh37 8 10464582 10464582 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 122 26 84 0 ENST00000382483.3:c.7026G>A p.Arg2342= p.R2342= ENST00000382483 NM_178857.5 2342 agG/agA 0 -RP1L1 UCSF GRCh37 8 10468188 10468188 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 13 30 0 ENST00000382483.3:c.3420G>A p.Arg1140= p.R1140= ENST00000382483 NM_178857.5 1140 agG/agA 0 -RPAP1 UCSF GRCh37 15 41809836 41809836 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 96 21 97 0 ENST00000304330.4:c.4086G>A p.Glu1362= p.E1362= ENST00000304330 NM_015540.2 1362 gaG/gaA 0 -RPF1 UCSF GRCh37 1 84945059 84945059 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 10 30 0 ENST00000370654.5:c.95G>A p.Gly32Glu p.G32E ENST00000370654 NM_025065.6 32 gGg/gAg 0 -RPGRIP1 UCSF GRCh37 14 21793437 21793437 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 19 63 0 ENST00000400017.2:c.2262G>A p.Leu754= p.L754= ENST00000400017 NM_020366.3 754 ctG/ctA 0 -RPL30 UCSF GRCh37 8 99057222 99057222 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 55 103 0 ENST00000521291.1:c.116G>A p.Arg39Lys p.R39K ENST00000521291 39 aGa/aAa 0 -RPL7 UCSF GRCh37 8 74204984 74204984 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 78 98 0 ENST00000352983.2:c.63G>A p.Lys21= p.K21= ENST00000352983 21 aaG/aaA 0 -RPS16 UCSF GRCh37 19 39924353 39924353 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 15 60 0 ENST00000251453.3:c.199G>A p.Asp67Asn p.D67N ENST00000251453 NM_001020.4 67 Gac/Aac 0 -RPS27A UCSF GRCh37 2 55462702 55462702 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 117 16 122 0 ENST00000272317.6:c.460G>A p.Glu154Lys p.E154K ENST00000272317 NM_002954.5 154 Gaa/Aaa 0 -RRP12 UCSF GRCh37 10 99141531 99141531 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 12 15 0 ENST00000370992.4:c.1261G>A p.Val421Met p.V421M ENST00000370992 NM_015179.3 421 Gtg/Atg 0 -RRP8 UCSF GRCh37 11 6622723 6622723 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 27 27 0 ENST00000254605.6:c.573G>A p.Arg191= p.R191= ENST00000254605 NM_015324.3 191 cgG/cgA 0 -RS1 UCSF GRCh37 X 18674867 18674867 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 8 26 35 0 ENST00000379984.3:c.90G>A p.Glu30= p.E30= ENST00000379984 NM_000330.3 30 gaG/gaA 0 -RSAD1 UCSF GRCh37 17 48559607 48559607 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 5 14 0 ENST00000258955.2:c.630G>A p.Gly210= p.G210= ENST00000258955 NM_018346.1 210 ggG/ggA 0 -RTN4IP1 UCSF GRCh37 6 107035715 107035715 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 20 59 0 ENST00000369063.3:c.829G>A p.Val277Ile p.V277I ENST00000369063 NM_032730.4 277 Gtt/Att 0 -RXRB UCSF GRCh37 6 33162485 33162485 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 5 22 0 ENST00000374685.4:c.1588C>T p.Leu530Phe p.L530F ENST00000374685 530 Ctt/Ttt 0 -RYK UCSF GRCh37 3 133894806 133894806 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 25 99 0 ENST00000296084.4:c.1386C>T p.Val462= p.V462= ENST00000296084 NM_001005861.2 462 gtC/gtT 0 -RYR3 UCSF GRCh37 15 34015071 34015071 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 121 16 84 0 ENST00000389232.4:c.6775C>T p.Pro2259Ser p.P2259S ENST00000389232 NM_001036.3 2259 Ccc/Tcc 0 -S100A7A UCSF GRCh37 1 153390636 153390636 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 26 63 0 ENST00000368729.4:c.78G>A p.Lys26= p.K26= ENST00000368729 NM_176823.3 26 aaG/aaA 0 -S1PR4 UCSF GRCh37 19 3179754 3179754 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 7 19 0 ENST00000246115.3:c.964C>T p.Leu322Phe p.L322F ENST00000246115 NM_003775.3 322 Ctc/Ttc 0 -SAG UCSF GRCh37 2 234229373 234229373 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 10 22 0 ENST00000409110.1:c.279G>A p.Gln93= p.Q93= ENST00000409110 NM_000541.4 93 caG/caA 0 -SART3 UCSF GRCh37 12 108930558 108930558 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 21 41 0 ENST00000228284.3:c.1313C>T p.Ser438Phe p.S438F ENST00000228284 NM_014706.3 438 tCc/tTc 0 -SATL1 UCSF GRCh37 X 84362618 84362618 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 7 22 0 ENST00000509231.1:c.1357C>T p.Gln453Ter p.Q453* ENST00000509231 453 Caa/Taa 0 -SBF1 UCSF GRCh37 22 50893373 50893373 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 5 12 0 ENST00000380817.3:c.4682G>A p.Gly1561Glu p.G1561E ENST00000380817 NM_002972.2 1561 gGg/gAg 0 -SBF2 UCSF GRCh37 11 9871647 9871647 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 48 24 80 0 ENST00000256190.8:c.2729A>G p.Gln910Arg p.Q910R ENST00000256190 NM_030962.3 910 cAg/cGg 0 -SCAF4 UCSF GRCh37 21 33068918 33068918 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 18 4 23 0 ENST00000286835.7:c.923C>T p.Pro308Leu p.P308L ENST00000286835 NM_020706.2 308 cCc/cTc 0 -SCAMP4 UCSF GRCh37 19 1918968 1918968 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 23 27 0 ENST00000316097.8:c.374G>A p.Gly125Asp p.G125D ENST00000316097 NM_079834.2 125 gGc/gAc 0 -SCAPER UCSF GRCh37 15 77092596 77092596 + missense_variant Missense_Mutation SNP T T G NOVEL P01_Rec Untested WXS Illumina HiSeq 75 60 120 0 ENST00000563290.1:c.604A>C p.Asn202His p.N202H ENST00000563290 202 Aat/Cat 0 -SCARA3 UCSF GRCh37 8 27528549 27528549 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 3 21 0 ENST00000301904.3:c.1502C>T p.Pro501Leu p.P501L ENST00000301904 NM_016240.2 501 cCt/cTt 0 -SCARB1 UCSF GRCh37 12 125298883 125298883 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 3 47 31 0 ENST00000261693.6:c.495C>T p.Thr165= p.T165= ENST00000261693 NM_005505.4 165 acC/acT 0 -SCD UCSF GRCh37 10 102112124 102112124 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 17 56 0 ENST00000370355.2:c.312G>A p.Gly104= p.G104= ENST00000370355 NM_005063.4 104 ggG/ggA 0 -SCN11A UCSF GRCh37 3 38888991 38888991 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 23 59 0 ENST00000302328.3:c.4570C>T p.Pro1524Ser p.P1524S ENST00000302328 NM_014139.2 1524 Cca/Tca 0 -SCN1A UCSF GRCh37 2 166895998 166895998 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 15 82 0 ENST00000303395.4:c.2524C>T p.Leu842Phe p.L842F ENST00000303395 842 Ctt/Ttt 0 -SCN2A UCSF GRCh37 2 166165874 166165874 + intron_variant Intron SNP G G A snp132_rs2228983 P01_Rec Untested WXS Illumina HiSeq 69 44 97 0 ENST00000357398.3:c.697+108G>A *233* ENST00000357398 0 -SCN4A UCSF GRCh37 17 62021109 62021109 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 8 46 0 ENST00000435607.1:c.4014C>T p.Pro1338= p.P1338= ENST00000435607 NM_000334.4 1338 ccC/ccT 0 -SCNN1B UCSF GRCh37 16 23392077 23392077 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 25 16 0 ENST00000343070.2:c.1878G>A p.Gln626= p.Q626= ENST00000343070 NM_000336.2 626 caG/caA 0 -SEC11C UCSF GRCh37 18 56819825 56819825 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 113 30 133 0 ENST00000587834.1:c.255G>A p.Arg85= p.R85= ENST00000587834 NM_033280.2 85 cgG/cgA 0 -SEC23B UCSF GRCh37 20 18508219 18508219 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 182 37 180 0 ENST00000336714.3:c.1073G>A p.Gly358Glu p.G358E ENST00000336714 NM_032985.4 358 gGa/gAa 0 -SEC23B UCSF GRCh37 20 18522964 18522964 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 124 15 110 0 ENST00000336714.3:c.1429G>A p.Gly477Ser p.G477S ENST00000336714 NM_032985.4 477 Ggc/Agc 0 -SEC24B UCSF GRCh37 4 110402884 110402884 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 72 48 84 0 ENST00000265175.5:c.1112C>T p.Pro371Leu p.P371L ENST00000265175 NM_006323.2 371 cCc/cTc 0 -SEL1L3 UCSF GRCh37 4 25849177 25849177 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 74 61 98 0 ENST00000399878.3:c.472G>A p.Asp158Asn p.D158N ENST00000399878 NM_015187.3 158 Gat/Aat 0 -SELE UCSF GRCh37 1 169702801 169702801 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 12 64 0 ENST00000333360.7:c.-48G>A p.X16_splice ENST00000333360 NM_000450.2 0 -SELE UCSF GRCh37 1 169702111 169702111 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 36 58 0 ENST00000333360.7:c.66G>A p.Trp22Ter p.W22* ENST00000333360 NM_000450.2 22 tgG/tgA 0 -SELRC1 UCSF GRCh37 1 53158423 53158423 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 10 47 0 ENST00000371538.3:c.223G>A p.Gly75Arg p.G75R ENST00000371538 NM_023077.2 75 Ggg/Agg 0 -SEMA3D UCSF GRCh37 7 84628924 84628924 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 31 55 0 ENST00000284136.6:c.2166C>T p.Ser722= p.S722= ENST00000284136 NM_152754.2 722 agC/agT 0 -SERINC2 UCSF GRCh37 1 31899568 31899568 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 11 38 0 ENST00000373710.1:c.705C>T p.Tyr235= p.Y235= ENST00000373710 NM_001199038.1 235 taC/taT 0 -SERPINA6 UCSF GRCh37 14 94772555 94772555 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 6 21 0 ENST00000341584.3:c.885C>T p.Ser295= p.S295= ENST00000341584 NM_001756.3 295 agC/agT 0 -SERPINE1 UCSF GRCh37 7 100773852 100773852 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 102 64 105 0 ENST00000223095.4:c.422G>A p.Arg141Gln p.R141Q ENST00000223095 NM_000602.4 141 cGg/cAg 0 -SERPINE2 UCSF GRCh37 2 224866420 224866420 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 18 27 0 ENST00000447280.2:c.234G>A p.Gln78= p.Q78= ENST00000447280 NM_001136530.1 78 caG/caA 0 -SERPINF1 UCSF GRCh37 17 1679946 1679946 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 20 52 0 ENST00000254722.4:c.907C>T p.Arg303Ter p.R303* ENST00000254722 NM_002615.5 303 Cga/Tga 0 -SERPING1 UCSF GRCh37 11 57367484 57367484 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 55 9 55 0 ENST00000278407.4:c.184G>A p.Val62Ile p.V62I ENST00000278407 NM_000062.2 62 Gtt/Att 0 -SESN3 UCSF GRCh37 11 94911935 94911935 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 42 91 0 ENST00000536441.1:c.995G>A p.Gly332Asp p.G332D ENST00000536441 NM_144665.3 332 gGt/gAt 0 -SETD1A UCSF GRCh37 16 30977082 30977082 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 7 9 0 ENST00000262519.8:c.1880C>T p.Pro627Leu p.P627L ENST00000262519 NM_014712.1 627 cCc/cTc 0 -SETD2 UCSF GRCh37 3 47098404 47098404 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 36 4 45 0 ENST00000409792.3:c.6870G>A p.Gln2290= p.Q2290= ENST00000409792 NM_014159.6 2290 caG/caA 0 -SETD5 UCSF GRCh37 3 9483374 9483374 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 86 59 142 0 ENST00000402198.1:c.908G>A p.Gly303Glu p.G303E ENST00000402198 NM_001080517.1 303 gGg/gAg 0 -SEZ6 UCSF GRCh37 17 27296849 27296849 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 4 15 0 ENST00000317338.12:c.980C>T p.Thr327Ile p.T327I ENST00000317338 327 aCc/aTc 0 -SEZ6 UCSF GRCh37 17 27284412 27284412 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 31 77 0 ENST00000317338.12:c.2448C>T p.Arg816= p.R816= ENST00000317338 816 cgC/cgT 0 -SFSWAP UCSF GRCh37 12 132210037 132210037 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 14 56 0 ENST00000541286.1:c.694G>A p.Ala232Thr p.A232T ENST00000541286 NM_001261411.1 232 Gcc/Acc 0 -SFTPD UCSF GRCh37 10 81702620 81702620 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 13 33 0 ENST00000372292.3:c.215C>T p.Ala72Val p.A72V ENST00000372292 NM_003019.4 72 gCa/gTa 0 -SFXN5 UCSF GRCh37 2 73215423 73215423 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 16 8 16 0 ENST00000272433.2:c.589C>T p.Leu197Phe p.L197F ENST00000272433 NM_144579.2 197 Ctt/Ttt 0 -SGIP1 UCSF GRCh37 1 67142712 67142712 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 26 59 0 ENST00000371037.4:c.672G>A p.Trp224Ter p.W224* ENST00000371037 NM_032291.2 224 tgG/tgA 0 -SGK1 UCSF GRCh37 6 134493417 134493417 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 89 21 114 0 ENST00000367858.5:c.985G>A p.Gly329Arg p.G329R ENST00000367858 NM_001143676.1 329 Gga/Aga 0 -PRAG1 UCSF GRCh37 8 8235518 8235518 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 16 29 0 ENST00000520004.1:c.401G>A p.Gly134Asp p.G134D ENST00000520004 134 gGc/gAc 0 -SH3D21 UCSF GRCh37 1 36786324 36786324 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 28 15 35 0 ENST00000453908.2:c.2060G>A p.Gly687Glu p.G687E ENST00000453908 NM_001162530.1 687 gGa/gAa 0 -SH3PXD2A UCSF GRCh37 10 105386875 105386875 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 9 30 0 ENST00000355946.2:c.689C>T p.Ser230Phe p.S230F ENST00000355946 NM_014631.2 230 tCc/tTc 0 -SH3PXD2A UCSF GRCh37 10 105561100 105561100 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 7 28 0 ENST00000355946.2:c.93C>T p.Thr31= p.T31= ENST00000355946 NM_014631.2 31 acC/acT 0 -SH3RF2 UCSF GRCh37 5 145379823 145379823 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 18 5 21 0 ENST00000511217.1:c.581C>T p.Ala194Val p.A194V ENST00000511217 194 gCc/gTc 0 -SH3TC1 UCSF GRCh37 4 8221106 8221106 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 7 13 0 ENST00000245105.3:c.961C>T p.Pro321Ser p.P321S ENST00000245105 NM_018986.3 321 Ccc/Tcc 0 -SHANK2 UCSF GRCh37 11 70332216 70332216 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 6 31 0 ENST00000338508.4:c.4185C>T p.Pro1395= p.P1395= ENST00000338508 1395 ccC/ccT 0 -SIM1 UCSF GRCh37 6 100911214 100911214 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 30 59 0 ENST00000369208.3:c.131G>A p.Arg44Lys p.R44K ENST00000369208 44 aGa/aAa 0 -SIRPB1 UCSF GRCh37 20 1552408 1552408 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 10 39 0 ENST00000381605.4:c.709G>A p.Asp237Asn p.D237N ENST00000381605 NM_006065.3 237 Gac/Aac 0 -SLAMF6 UCSF GRCh37 1 160458953 160458953 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 63 7 38 0 ENST00000368057.3:c.804C>T p.Ser268= p.S268= ENST00000368057 268 tcC/tcT 0 -SLC12A6 UCSF GRCh37 15 34526102 34526102 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 16 47 0 ENST00000354181.3:c.3433G>A p.Val1145Met p.V1145M ENST00000354181 1145 Gtg/Atg 0 -SLC15A3 UCSF GRCh37 11 60708694 60708694 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 7 15 0 ENST00000227880.3:c.1176C>T p.Arg392= p.R392= ENST00000227880 NM_016582.2 392 cgC/cgT 0 -SLC1A5 UCSF GRCh37 19 47280365 47280365 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 5 20 22 0 ENST00000542575.2:c.1255G>A p.Val419Ile p.V419I ENST00000542575 NM_005628.2 419 Gtc/Atc 0 -SLC1A6 UCSF GRCh37 19 15061096 15061096 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 18 6 19 0 ENST00000221742.3:c.1606C>T p.Leu536Phe p.L536F ENST00000221742 NM_005071.2 536 Ctc/Ttc 0 -SLC22A16 UCSF GRCh37 6 110746096 110746096 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 90 55 115 0 ENST00000368919.3:c.1714G>A p.Asp572Asn p.D572N ENST00000368919 NM_033125.3 572 Gat/Aat 0 -SLC22A20 UCSF GRCh37 11 64985117 64985117 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 9 19 0 ENST00000525264.1:n.622G>A *208* ENST00000525264 0 -SLC24A1 UCSF GRCh37 15 65916651 65916651 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 49 72 0 ENST00000261892.6:c.233G>A p.Ser78Asn p.S78N ENST00000261892 NM_004727.2 78 aGc/aAc 0 -SLC25A37 UCSF GRCh37 8 23429182 23429182 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.008,1000g2011may_all_0.0299,snp132_rs34146184 P01_Rec Untested WXS Illumina HiSeq 55 12 53 0 ENST00000519973.1:c.831C>T p.Gly277= p.G277= ENST00000519973 NM_016612.2 277 ggC/ggT 0 -SLC26A2 UCSF GRCh37 5 149357685 149357685 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 21 88 0 ENST00000286298.4:c.470C>T p.Ser157Phe p.S157F ENST00000286298 NM_000112.3 157 tCc/tTc 0 -SLC26A8 UCSF GRCh37 6 35912088 35912088 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 94 40 80 0 ENST00000490799.1:c.2502C>T p.Ser834= p.S834= ENST00000490799 NM_052961.3 834 agC/agT 0 -SLC27A6 UCSF GRCh37 5 128351585 128351585 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 35 91 0 ENST00000262462.4:c.977G>A p.Gly326Glu p.G326E ENST00000262462 326 gGa/gAa 0 -SLC28A2 UCSF GRCh37 15 45556211 45556211 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 10 70 0 ENST00000347644.3:c.579C>T p.His193= p.H193= ENST00000347644 NM_004212.3 193 caC/caT 0 -SLC2A12 UCSF GRCh37 6 134350161 134350161 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 63 34 126 0 ENST00000275230.5:c.802C>T p.Leu268= p.L268= ENST00000275230 NM_145176.2 268 Ctg/Ttg 0 -SLC2A4 UCSF GRCh37 17 7186928 7186928 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 22 49 0 ENST00000317370.8:c.287C>T p.Ser96Phe p.S96F ENST00000317370 NM_001042.2 96 tCc/tTc 0 -SLC30A1 UCSF GRCh37 1 211749417 211749417 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 121 21 121 0 ENST00000367001.4:c.837G>A p.Gly279= p.G279= ENST00000367001 NM_021194.2 279 ggG/ggA 0 -SLC30A3 UCSF GRCh37 2 27479746 27479746 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 11 8 15 0 ENST00000233535.4:c.793G>A p.Ala265Thr p.A265T ENST00000233535 NM_003459.4 265 Gcc/Acc 0 -SLC30A5 UCSF GRCh37 5 68425286 68425286 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 9 86 0 ENST00000396591.3:c.2140C>T p.Leu714Phe p.L714F ENST00000396591 NM_022902.4 714 Ctt/Ttt 0 -SLC30A8 UCSF GRCh37 8 118175722 118175722 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 12 66 0 ENST00000456015.2:c.782C>T p.Ala261Val p.A261V ENST00000456015 NM_173851.2 261 gCc/gTc 0 -SLC34A3 UCSF GRCh37 9 140127052 140127052 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 4 9 0 ENST00000538474.1:c.201C>T p.Arg67= p.R67= ENST00000538474 NM_001177317.1 67 cgC/cgT 0 -SLC35F5 UCSF GRCh37 2 114512853 114512853 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 72 10 87 0 ENST00000245680.2:c.162C>T p.Asn54= p.N54= ENST00000245680 NM_025181.2 54 aaC/aaT 0 -SLC38A9 UCSF GRCh37 5 54948412 54948412 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 27 67 0 ENST00000396865.2:c.897C>T p.Leu299= p.L299= ENST00000396865 NM_173514.3 299 ctC/ctT 0 -SLC39A4 UCSF GRCh37 8 145637955 145637955 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 8 32 0 ENST00000301305.3:c.1911G>A p.Leu637= p.L637= ENST00000301305 NM_130849.3 637 ctG/ctA 0 -SLC39A6 UCSF GRCh37 18 33704519 33704519 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 30 74 0 ENST00000269187.5:c.934G>A p.Ala312Thr p.A312T ENST00000269187 NM_012319.3 312 Gct/Act 0 -SLC44A5 UCSF GRCh37 1 75693542 75693542 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 17 72 0 ENST00000370855.5:c.854G>A p.Gly285Glu p.G285E ENST00000370855 NM_152697.4 285 gGa/gAa 0 -SLC4A5 UCSF GRCh37 2 74459741 74459741 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 12 24 0 ENST00000377634.4:c.2629G>A p.Val877Met p.V877M ENST00000377634 877 Gtg/Atg 0 -SLC4A8 UCSF GRCh37 12 51855017 51855017 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 7 49 0 ENST00000453097.2:c.1043G>A p.Gly348Glu p.G348E ENST00000453097 NM_001039960.2 348 gGg/gAg 0 -SLC5A9 UCSF GRCh37 1 48701422 48701422 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 7 19 0 ENST00000236495.5:c.1238C>T p.Ala413Val p.A413V ENST00000236495 NM_001135181.1 413 gCc/gTc 0 -SLC6A12 UCSF GRCh37 12 309904 309904 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 44 43 0 ENST00000428720.1:c.624C>T p.Ser208= p.S208= ENST00000428720 NM_001122848.2 208 tcC/tcT 0 -SLC7A8 UCSF GRCh37 14 23635544 23635544 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 80 12 72 0 ENST00000316902.7:c.356+1G>A p.X119_splice ENST00000316902 NM_012244.3 0 -SLC9A10 UCSF GRCh37 3 111981803 111981803 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 34 95 0 ENST00000305815.5:c.1165C>T p.Leu389Phe p.L389F ENST00000305815 NM_183061.1 389 Ctt/Ttt 0 -SLC9A11 UCSF GRCh37 1 173517646 173517646 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 13 64 0 ENST00000367714.3:c.1343C>T p.Ala448Val p.A448V ENST00000367714 NM_178527.3 448 gCc/gTc 0 -SLC9A5 UCSF GRCh37 16 67291332 67291332 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 24 51 0 ENST00000299798.11:c.1420G>A p.Glu474Lys p.E474K ENST00000299798 NM_004594.2 474 Gaa/Aaa 0 -SLCO5A1 UCSF GRCh37 8 70650373 70650373 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 24 64 0 ENST00000260126.4:c.1325C>T p.Thr442Ile p.T442I ENST00000260126 NM_030958.2 442 aCa/aTa 0 -SLITRK5 UCSF GRCh37 13 88330363 88330363 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 12 58 0 ENST00000325089.6:c.2720G>A p.Gly907Glu p.G907E ENST00000325089 NM_015567.1 907 gGg/gAg 0 -SLMAP UCSF GRCh37 3 57846543 57846543 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 19 45 0 ENST00000295951.3:c.805G>A p.Val269Ile p.V269I ENST00000295951 269 Gtt/Att 0 -SLMO2 UCSF GRCh37 20 57613588 57613588 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 32 68 0 ENST00000355937.4:c.134C>T p.Pro45Leu p.P45L ENST00000355937 NM_016045.2 45 cCc/cTc 0 -SMAP1 UCSF GRCh37 6 71508401 71508401 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 19 85 0 ENST00000370455.3:c.537G>A p.Lys179= p.K179= ENST00000370455 NM_001281440.1 179 aaG/aaA 0 -SMARCA2 UCSF GRCh37 9 2039702 2039702 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 7 11 25 0 ENST00000382203.1:c.592C>T p.Leu198Phe p.L198F ENST00000382203 198 Ctc/Ttc 0 -SMARCC2 UCSF GRCh37 12 56567624 56567624 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 69 51 67 0 ENST00000267064.4:c.1506C>T p.Ala502= p.A502= ENST00000267064 NM_003075.3 502 gcC/gcT 0 -SMARCD1 UCSF GRCh37 12 50484110 50484110 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 15 62 0 ENST00000394963.4:c.960G>A p.Trp320Ter p.W320* ENST00000394963 NM_003076.4 320 tgG/tgA 0 -SMC6 UCSF GRCh37 2 17897360 17897360 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 47 108 0 ENST00000448223.2:c.1518C>T p.Gly506= p.G506= ENST00000448223 NM_001142286.1 506 ggC/ggT 0 -SMC6 UCSF GRCh37 2 17897456 17897456 + synonymous_variant Silent SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 49 56 109 0 ENST00000448223.2:c.1422T>C p.Thr474= p.T474= ENST00000448223 NM_001142286.1 474 acT/acC 0 -SMCHD1 UCSF GRCh37 18 2697853 2697853 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 14 76 0 ENST00000320876.6:c.1156G>A p.Val386Ile p.V386I ENST00000320876 NM_015295.2 386 Gta/Ata 0 -SMEK2 UCSF GRCh37 2 55825776 55825776 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 44 115 0 ENST00000345102.5:c.697G>A p.Ala233Thr p.A233T ENST00000345102 NM_001122964.1 233 Gct/Act 0 -SMG7 UCSF GRCh37 1 183515267 183515267 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P01_Rec Untested WXS Illumina HiSeq 7 0 ENST00000507469.1:c.2407del p.Met803Ter p.M803* ENST00000507469 NM_201569.2 800 gAa/ga 0 -SMURF1 UCSF GRCh37 7 98649907 98649907 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 52 11 38 0 ENST00000361125.1:c.642C>T p.Asn214= p.N214= ENST00000361125 NM_020429.2 214 aaC/aaT 0 -SMURF2 UCSF GRCh37 17 62559045 62559045 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 40 28 56 0 ENST00000262435.9:c.1056G>A p.Val352= p.V352= ENST00000262435 NM_022739.3 352 gtG/gtA 0 -SNAP47 UCSF GRCh37 1 227935657 227935657 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 55 7 40 0 ENST00000366759.4:c.355G>A p.Gly119Ser p.G119S ENST00000366759 NM_053052.3 119 Ggc/Agc 0 -SMT-ND1 UCSF GRCh37 7 127447556 127447556 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 68 16 76 0 ENST00000354725.3:c.1171C>T p.Arg391Cys p.R391C ENST00000354725 NM_014390.2 391 Cgt/Tgt 0 -SNRPA UCSF GRCh37 19 41268881 41268881 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 4 17 0 ENST00000243563.3:c.502G>A p.Gly168Ser p.G168S ENST00000243563 NM_004596.4 168 Ggt/Agt 0 -SNX4 UCSF GRCh37 3 125223584 125223584 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 8 23 64 0 ENST00000251775.4:c.146C>T p.Thr49Ile p.T49I ENST00000251775 NM_003794.3 49 aCa/aTa 0 -SNX4 UCSF GRCh37 3 125179650 125179650 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 4 55 0 ENST00000251775.4:c.909G>A p.Gln303= p.Q303= ENST00000251775 NM_003794.3 303 caG/caA 0 -SON UCSF GRCh37 21 34932013 34932013 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 93 15 146 0 ENST00000356577.4:c.6589C>T p.Pro2197Ser p.P2197S ENST00000356577 NM_138927.2 2197 Cct/Tct 0 -SORBS3 UCSF GRCh37 8 22424195 22424195 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 7 13 0 ENST00000240123.7:c.1112G>A p.Gly371Glu p.G371E ENST00000240123 NM_005775.4 371 gGg/gAg 0 -SOS2 UCSF GRCh37 14 50597331 50597331 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 15 82 0 ENST00000216373.5:c.3225G>A p.Glu1075= p.E1075= ENST00000216373 NM_006939.2 1075 gaG/gaA 0 -SOX13 UCSF GRCh37 1 204082180 204082180 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 3 10 0 ENST00000367204.1:c.137C>T p.Pro46Leu p.P46L ENST00000367204 NM_005686.2 46 cCt/cTt 0 -SP140 UCSF GRCh37 2 231101935 231101935 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 8 35 0 ENST00000392045.3:c.197G>A p.Gly66Asp p.G66D ENST00000392045 NM_007237.4 66 gGc/gAc 0 -SPACA7 UCSF GRCh37 13 113053461 113053461 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 19 65 0 ENST00000283550.3:c.323G>A p.Gly108Asp p.G108D ENST00000283550 NM_145248.4 108 gGc/gAc 0 -SPAG1 UCSF GRCh37 8 101232598 101232598 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 84 50 106 0 ENST00000388798.2:c.1627G>A p.Asp543Asn p.D543N ENST00000388798 NM_003114.4 543 Gat/Aat 0 -SPAG11B UCSF GRCh37 8 7320246 7320246 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 43 15 95 0 ENST00000398462.2:c.197G>A p.Arg66His p.R66H ENST00000398462 NM_058201.2 66 cGc/cAc 0 -SPAG9 UCSF GRCh37 17 49068013 49068013 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 16 47 0 ENST00000262013.7:c.2415C>T p.Asp805= p.D805= ENST00000262013 NM_001130528.2 805 gaC/gaT 0 -SPANXN4 UCSF GRCh37 X 142121991 142121991 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 11 35 0 ENST00000446864.1:c.259G>A p.Asp87Asn p.D87N ENST00000446864 NM_001009613.2 87 Gac/Aac 0 -SPATA20 UCSF GRCh37 17 48627611 48627611 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 6 36 0 ENST00000006658.6:c.1036C>T p.His346Tyr p.H346Y ENST00000006658 NM_022827.3 346 Cac/Tac 0 -SPATA6 UCSF GRCh37 1 48865249 48865249 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 87 30 87 0 ENST00000371847.3:c.554G>A p.Arg185Lys p.R185K ENST00000371847 NM_019073.2 185 aGa/aAa 0 -SPDYE4 UCSF GRCh37 17 8656648 8656648 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 13 20 0 ENST00000328794.6:c.645G>A p.Glu215= p.E215= ENST00000328794 NM_001128076.1 215 gaG/gaA 0 -SPEF2 UCSF GRCh37 5 35759703 35759703 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 129 18 137 0 ENST00000356031.3:c.3502C>T p.Leu1168Phe p.L1168F ENST00000356031 NM_024867.3 1168 Ctc/Ttc 0 -SPEG UCSF GRCh37 2 220338590 220338590 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 12 19 0 ENST00000312358.7:c.4412G>A p.Gly1471Asp p.G1471D ENST00000312358 NM_005876.4 1471 gGc/gAc 0 -SPHKAP UCSF GRCh37 2 228884573 228884573 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 155 23 141 0 ENST00000392056.3:c.997G>A p.Glu333Lys p.E333K ENST00000392056 NM_001142644.1 333 Gaa/Aaa 0 -SPHKAP UCSF GRCh37 2 228855860 228855860 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 12 50 0 ENST00000392056.3:c.4815G>A p.Gln1605= p.Q1605= ENST00000392056 NM_001142644.1 1605 caG/caA 0 -SPO11 UCSF GRCh37 20 55909861 55909861 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 20 41 0 ENST00000371263.3:c.566G>A p.Gly189Asp p.G189D ENST00000371263 NM_012444.2 189 gGc/gAc 0 -SPTA1 UCSF GRCh37 1 158639310 158639310 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 76 66 105 0 ENST00000368147.4:c.1721G>A p.Arg574Lys p.R574K ENST00000368147 NM_003126.2 574 aGa/aAa 0 -SPTA1 UCSF GRCh37 1 158655131 158655131 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 67 11 69 0 ENST00000368147.4:c.31G>A p.Glu11Lys p.E11K ENST00000368147 NM_003126.2 11 Gag/Aag 0 -SPTAN1 UCSF GRCh37 9 131337077 131337077 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 75 27 56 0 ENST00000372739.3:c.487G>A p.Asp163Asn p.D163N ENST00000372739 NM_001130438.2 163 Gac/Aac 0 -SPTAN1 UCSF GRCh37 9 131337540 131337540 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 91 33 91 0 ENST00000372739.3:c.567G>A p.Lys189= p.K189= ENST00000372739 NM_001130438.2 189 aaG/aaA 0 -SRCIN1 UCSF GRCh37 17 36708983 36708983 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 28 29 50 0 ENST00000264659.7:c.2310G>A p.Gly770= p.G770= ENST00000264659 NM_025248.2 770 ggG/ggA 0 -SRD5A2 UCSF GRCh37 2 31758811 31758811 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 28 48 0 ENST00000405650.1:n.473C>T *158* ENST00000405650 0 -SRRM2 UCSF GRCh37 16 2817289 2817289 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 10 31 0 ENST00000301740.8:c.6760G>A p.Val2254Met p.V2254M ENST00000301740 NM_016333.3 2254 Gtg/Atg 0 -SRRM2 UCSF GRCh37 16 2807494 2807494 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 44 25 59 0 ENST00000301740.8:c.264G>A p.Gln88= p.Q88= ENST00000301740 NM_016333.3 88 caG/caA 0 -SRRT UCSF GRCh37 7 100482407 100482407 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 9 25 0 ENST00000347433.4:c.989G>A p.Gly330Asp p.G330D ENST00000347433 330 gGt/gAt 0 -SRSF1 UCSF GRCh37 17 56082832 56082832 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 92 19 70 0 ENST00000258962.4:c.682C>T p.Pro228Ser p.P228S ENST00000258962 NM_006924.4 228 Cca/Tca 0 -SS18 UCSF GRCh37 18 23658055 23658055 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 15 66 0 ENST00000415083.2:c.216G>A p.Gln72= p.Q72= ENST00000415083 NM_001007559.1 72 caG/caA 0 -SSH2 UCSF GRCh37 17 28004719 28004719 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 30 72 0 ENST00000269033.3:c.439G>A p.Asp147Asn p.D147N ENST00000269033 NM_033389.2 147 Gac/Aac 0 -SSPO UCSF GRCh37 7 149484482 149484482 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 9 41 0 ENST00000378016.2:n.3405C>T *1135* ENST00000378016 0 -SSTR2 UCSF GRCh37 17 71166313 71166313 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 85 11 47 0 ENST00000357585.2:c.855C>T p.Ser285= p.S285= ENST00000357585 NM_001050.2 285 agC/agT 0 -SSX1 UCSF GRCh37 X 48123289 48123289 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 22 72 0 ENST00000376919.3:c.403G>A p.Asp135Asn p.D135N ENST00000376919 NM_005635.3 135 Gat/Aat 0 -ST18 UCSF GRCh37 8 53028885 53028885 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 25 50 0 ENST00000276480.7:c.2953C>T p.Leu985= p.L985= ENST00000276480 NM_014682.2 985 Cta/Tta 0 -ST3GAL5 UCSF GRCh37 2 86090527 86090527 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 41 47 0 ENST00000377332.3:c.164G>A p.Ser55Asn p.S55N ENST00000377332 NM_003896.3 55 aGc/aAc 0 -ST8SIA1 UCSF GRCh37 12 22440198 22440198 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 7 53 0 ENST00000396037.4:c.266C>T p.Ala89Val p.A89V ENST00000396037 NM_003034.3 89 gCc/gTc 0 -STAG1 UCSF GRCh37 3 136341997 136341997 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 24 125 0 ENST00000383202.2:c.123C>T p.Gly41= p.G41= ENST00000383202 NM_005862.2 41 ggC/ggT 0 -STAG3 UCSF GRCh37 7 99808690 99808690 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 12 23 0 ENST00000426455.1:c.3295C>T p.Leu1099= p.L1099= ENST00000426455 NM_001282716.1 1099 Ctg/Ttg 0 -STARD13 UCSF GRCh37 13 33686902 33686902 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 110 17 94 0 ENST00000336934.5:c.2448C>T p.Pro816= p.P816= ENST00000336934 NM_178006.3 816 ccC/ccT 0 -STAT5A UCSF GRCh37 17 40447808 40447808 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 5 21 0 ENST00000345506.4:c.547C>T p.Gln183Ter p.Q183* ENST00000345506 NM_003152.3 183 Caa/Taa 0 -STC2 UCSF GRCh37 5 172744859 172744859 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 63 12 85 0 ENST00000265087.4:c.900C>T p.Ile300= p.I300= ENST00000265087 NM_003714.2 300 atC/atT 0 -STEAP1 UCSF GRCh37 7 89790512 89790512 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 120 15 121 0 ENST00000297205.2:c.478A>G p.Thr160Ala p.T160A ENST00000297205 NM_012449.2 160 Aca/Gca 0 -STIL UCSF GRCh37 1 47767251 47767251 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 30 73 0 ENST00000371877.3:c.435C>T p.Asp145= p.D145= ENST00000371877 145 gaC/gaT 0 -STIM1 UCSF GRCh37 11 4091387 4091387 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 27 41 0 ENST00000300737.4:c.745G>A p.Glu249Lys p.E249K ENST00000300737 NM_003156.3 249 Gag/Aag 0 -STK17B UCSF GRCh37 2 197021289 197021289 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 41 78 0 ENST00000263955.4:c.209G>A p.Gly70Glu p.G70E ENST00000263955 NM_004226.3 70 gGa/gAa 0 -STK35 UCSF GRCh37 20 2083970 2083970 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 9 6 14 0 ENST00000381482.3:c.851G>A p.Ser284Asn p.S284N ENST00000381482 284 aGc/aAc 0 -STMN3 UCSF GRCh37 20 62275234 62275234 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 4 15 21 0 ENST00000370053.1:c.166G>A p.Val56Ile p.V56I ENST00000370053 NM_015894.3 56 Gtc/Atc 0 -STXBP5 UCSF GRCh37 6 147685202 147685202 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 111 21 121 0 ENST00000321680.6:c.2981G>A p.Arg994Lys p.R994K ENST00000321680 NM_001127715.2 994 aGa/aAa 0 -SUGP1 UCSF GRCh37 19 19420913 19420913 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 18 36 0 ENST00000247001.5:c.303C>T p.Thr101= p.T101= ENST00000247001 NM_172231.3 101 acC/acT 0 -SULT1A2 UCSF GRCh37 16 28603601 28603601 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 81 11 49 0 ENST00000395630.1:c.758C>T p.Ser253Phe p.S253F ENST00000395630 NM_177528.2 253 tCc/tTc 0 -SUPT5H UCSF GRCh37 19 39949503 39949503 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 9 40 0 ENST00000599117.1:c.365C>T p.Ala122Val p.A122V ENST00000599117 122 gCt/gTt 0 -SUPT6H UCSF GRCh37 17 27008350 27008350 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 12 44 0 ENST00000314616.6:c.1426C>T p.Pro476Ser p.P476S ENST00000314616 NM_003170.3 476 Cct/Tct 0 -SWAP70 UCSF GRCh37 11 9746358 9746358 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 42 95 0 ENST00000318950.6:c.568G>A p.Gly190Ser p.G190S ENST00000318950 NM_015055.2 190 Ggc/Agc 0 -SYCE2 UCSF GRCh37 19 13010179 13010179 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 17 36 0 ENST00000293695.7:c.633G>A p.Gln211= p.Q211= ENST00000293695 NM_001105578.1 211 caG/caA 0 -SYCP1 UCSF GRCh37 1 115400096 115400096 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 15 56 0 ENST00000369522.3:c.269G>A p.Gly90Glu p.G90E ENST00000369522 NM_003176.2 90 gGa/gAa 0 -SYF2 UCSF GRCh37 1 25549922 25549922 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 134 27 115 0 ENST00000236273.4:c.567G>A p.Gln189= p.Q189= ENST00000236273 NM_015484.4 189 caG/caA 0 -SYNE2 UCSF GRCh37 14 64519153 64519153 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 15 89 0 ENST00000358025.3:c.8522C>T p.Ala2841Val p.A2841V ENST00000358025 NM_182914.2 2841 gCt/gTt 0 -SYNM UCSF GRCh37 15 99670863 99670863 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 22 44 0 ENST00000336292.6:c.2295C>T p.Val765= p.V765= ENST00000336292 NM_145728.2 765 gtC/gtT 0 -SYNPO2 UCSF GRCh37 4 119944628 119944628 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 25 69 0 ENST00000307142.4:c.149G>A p.Gly50Glu p.G50E ENST00000307142 NM_133477.2 50 gGa/gAa 0 -SYNPO2L UCSF GRCh37 10 75414027 75414027 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 3 9 0 ENST00000394810.2:c.117G>A p.Arg39= p.R39= ENST00000394810 NM_001114133.1 39 cgG/cgA 0 -SYNRG UCSF GRCh37 17 35946594 35946594 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 9 65 0 ENST00000339208.6:c.304C>T p.Leu102= p.L102= ENST00000339208 NM_001163544.1 102 Ctg/Ttg 0 -SYPL2 UCSF GRCh37 1 110022032 110022032 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 29 35 0 ENST00000369872.3:c.681C>T p.Ala227= p.A227= ENST00000369872 NM_001040709.1 227 gcC/gcT 0 -SYTL2 UCSF GRCh37 11 85447625 85447625 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 15 60 0 ENST00000316356.4:c.505C>T p.Pro169Ser p.P169S ENST00000316356 169 Cca/Tca 0 -SYVN1 UCSF GRCh37 11 64898470 64898470 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 17 40 0 ENST00000377190.3:c.862G>A p.Asp288Asn p.D288N ENST00000377190 NM_172230.2 288 Gac/Aac 0 -SYVN1 UCSF GRCh37 11 64899725 64899725 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 15 28 0 ENST00000377190.3:c.525C>T p.Gly175= p.G175= ENST00000377190 NM_172230.2 175 ggC/ggT 0 -TAB2 UCSF GRCh37 6 149699780 149699780 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 46 113 0 ENST00000367456.1:c.729C>T p.Asn243= p.N243= ENST00000367456 243 aaC/aaT 0 -TACC2 UCSF GRCh37 10 123846070 123846070 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 1 13 24 0 ENST00000369005.1:c.4055G>A p.Gly1352Asp p.G1352D ENST00000369005 NM_206862.2 1352 gGt/gAt 0 -TACC2 UCSF GRCh37 10 123903218 123903218 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 4 24 0 ENST00000369005.1:c.5831G>A p.Ser1944Asn p.S1944N ENST00000369005 NM_206862.2 1944 aGc/aAc 0 -TACR1 UCSF GRCh37 2 75347752 75347752 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 28 36 0 ENST00000305249.5:c.532G>A p.Val178Ile p.V178I ENST00000305249 NM_001058.3 178 Gtc/Atc 0 -TADA2A UCSF GRCh37 17 35802753 35802753 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 42 9 73 0 ENST00000394395.2:c.531G>A p.Glu177= p.E177= ENST00000394395 NM_001166105.1 177 gaG/gaA 0 -TAF1L UCSF GRCh37 9 32630947 32630947 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 103 56 165 0 ENST00000242310.4:c.4631C>T p.Ser1544Phe p.S1544F ENST00000242310 NM_153809.2 1544 tCt/tTt 0 -TAF3 UCSF GRCh37 10 7866448 7866448 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 88 46 126 0 ENST00000344293.5:c.334C>T p.Pro112Ser p.P112S ENST00000344293 NM_031923.3 112 Cct/Tct 0 -TAGAP UCSF GRCh37 6 159457737 159457737 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 72 11 72 0 ENST00000367066.3:c.1318C>T p.Leu440= p.L440= ENST00000367066 NM_054114.4 440 Ctg/Ttg 0 -TAOK3 UCSF GRCh37 12 118627651 118627651 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 50 103 0 ENST00000392533.3:c.1290G>A p.Arg430= p.R430= ENST00000392533 NM_016281.3 430 cgG/cgA 0 -TARBP1 UCSF GRCh37 1 234563473 234563473 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 8 56 0 ENST00000040877.1:c.3100G>A p.Gly1034Arg p.G1034R ENST00000040877 NM_005646.3 1034 Gga/Aga 0 -TAS1R1 UCSF GRCh37 1 6634898 6634898 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 12 17 0 ENST00000333172.6:c.706G>A p.Gly236Arg p.G236R ENST00000333172 NM_138697.3 236 Ggg/Agg 0 -TAS2R30 UCSF GRCh37 12 11286113 11286113 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 127 50 124 0 ENST00000539585.1:c.731C>T p.Ser244Phe p.S244F ENST00000539585 NM_001097643.1 244 tCc/tTc 0 -TAS2R31 UCSF GRCh37 12 11183443 11183443 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 93 63 154 0 ENST00000390675.2:c.492G>A p.Trp164Ter p.W164* ENST00000390675 NM_176885.2 164 tgG/tgA 0 -TAS2R60 UCSF GRCh37 7 143140762 143140762 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 40 74 0 ENST00000332690.1:c.217G>A p.Val73Ile p.V73I ENST00000332690 NM_177437.1 73 Gta/Ata 0 -TBC1D1 UCSF GRCh37 4 38134768 38134768 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 69 62 70 0 ENST00000261439.4:c.3196G>A p.Glu1066Lys p.E1066K ENST00000261439 NM_015173.3 1066 Gaa/Aaa 0 -TBC1D10A UCSF GRCh37 22 30691779 30691779 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 6 11 0 ENST00000403477.3:c.492C>T p.Asp164= p.D164= ENST00000403477 NM_001204240.1 164 gaC/gaT 0 -TBC1D25 UCSF GRCh37 X 48419031 48419031 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 8 48 0 ENST00000376771.4:c.1735G>A p.Val579Ile p.V579I ENST00000376771 NM_002536.2 579 Gta/Ata 0 -TBC1D30 UCSF GRCh37 12 65232609 65232609 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 81 69 85 0 ENST00000539867.1:c.910G>A p.Ala304Thr p.A304T ENST00000539867 NM_015279.1 304 Gct/Act 0 -TBCD UCSF GRCh37 17 80884302 80884302 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 59 32 62 0 ENST00000355528.4:c.2406C>T p.Thr802= p.T802= ENST00000355528 NM_005993.4 802 acC/acT 0 -TCEB3 UCSF GRCh37 1 24077496 24077496 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 45 26 54 0 ENST00000418390.2:c.479G>A p.Arg160Lys p.R160K ENST00000418390 NM_003198.2 160 aGg/aAg 0 -TCF3 UCSF GRCh37 19 1612371 1612371 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 5 19 0 ENST00000344749.5:c.1648G>A p.Ala550Thr p.A550T ENST00000344749 NM_001136139.2 550 Gcc/Acc 0 -TCF7L1 UCSF GRCh37 2 85510672 85510672 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 88 56 71 0 ENST00000282111.3:c.496G>A p.Asp166Asn p.D166N ENST00000282111 NM_031283.2 166 Gac/Aac 0 -TCN2 UCSF GRCh37 22 31018968 31018968 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 33 84 0 ENST00000215838.3:c.1120G>A p.Ala374Thr p.A374T ENST00000215838 374 Gcc/Acc 0 -TCP11 UCSF GRCh37 6 35107840 35107840 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 80 37 93 0 ENST00000311875.5:c.163+684C>T *55* ENST00000311875 0 -TCP11L1 UCSF GRCh37 11 33094171 33094171 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 93 20 91 0 ENST00000334274.4:c.1479C>T p.Val493= p.V493= ENST00000334274 NM_018393.3 493 gtC/gtT 0 -TDO2 UCSF GRCh37 4 156824919 156824919 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 32 77 0 ENST00000536354.2:c.9G>A p.Gly3= p.G3= ENST00000536354 NM_005651.3 3 ggG/ggA 0 -TDRD7 UCSF GRCh37 9 100245182 100245182 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 110 28 109 0 ENST00000355295.4:c.2464C>T p.Pro822Ser p.P822S ENST00000355295 NM_014290.2 822 Cct/Tct 0 -TECPR1 UCSF GRCh37 7 97862967 97862967 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 10 18 0 ENST00000447648.2:c.1438C>T p.Pro480Ser p.P480S ENST00000447648 NM_015395.2 480 Ccc/Tcc 0 -TENC1 UCSF GRCh37 12 53453653 53453653 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 10 19 0 ENST00000314276.3:c.2258G>A p.Gly753Glu p.G753E ENST00000314276 NM_015319.2 753 gGg/gAg 0 -TET2 UCSF GRCh37 4 106164085 106164085 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 48 22 60 0 ENST00000380013.4:c.3594+1G>A p.X1198_splice ENST00000380013 NM_001127208.2 0 -TET2 UCSF GRCh37 4 106157043 106157043 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 28 61 0 ENST00000380013.4:c.1944C>T p.Asp648= p.D648= ENST00000380013 NM_001127208.2 648 gaC/gaT 0 -TET2 UCSF GRCh37 4 106155153 106155153 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 18 48 0 ENST00000380013.4:c.54G>A p.Leu18= p.L18= ENST00000380013 NM_001127208.2 18 ctG/ctA 0 -TEX11 UCSF GRCh37 X 69811660 69811660 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 3 14 20 0 ENST00000395889.2:c.2126G>A p.Ser709Asn p.S709N ENST00000395889 NM_001003811.1 709 aGt/aAt 0 -TEX11 UCSF GRCh37 X 69749812 69749812 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 3 43 41 0 ENST00000395889.2:c.2603T>C p.Val868Ala p.V868A ENST00000395889 NM_001003811.1 868 gTc/gCc 0 -TFEC UCSF GRCh37 7 115596785 115596785 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 129 20 117 0 ENST00000265440.7:c.330G>A p.Gly110= p.G110= ENST00000265440 NM_012252.3 110 ggG/ggA 0 -TFIP11 UCSF GRCh37 22 26892785 26892785 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 55 11 53 0 ENST00000407690.1:c.1507C>T p.Pro503Ser p.P503S ENST00000407690 NM_012143.2 503 Ccg/Tcg 0 -TG UCSF GRCh37 8 134144132 134144132 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 22 110 0 ENST00000220616.4:c.7939G>A p.Glu2647Lys p.E2647K ENST00000220616 NM_003235.4 2647 Gag/Aag 0 -TGFB2 UCSF GRCh37 1 218609363 218609363 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 71 12 67 0 ENST00000366929.4:c.890C>T p.Ser297Phe p.S297F ENST00000366929 NM_001135599.2 297 tCc/tTc 0 -TGIF1 UCSF GRCh37 18 3456459 3456459 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 133 25 81 0 ENST00000330513.5:c.511C>T p.Leu171= p.L171= ENST00000330513 NM_170695.3 171 Cta/Tta 0 -TGM2 UCSF GRCh37 20 36766720 36766720 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 34 31 34 0 ENST00000361475.2:c.1410G>A p.Glu470= p.E470= ENST00000361475 NM_004613.2 470 gaG/gaA 0 -TGM7 UCSF GRCh37 15 43584920 43584920 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 50 114 0 ENST00000452443.2:c.426C>T p.Asn142= p.N142= ENST00000452443 NM_052955.2 142 aaC/aaT 0 -THSD7A UCSF GRCh37 7 11676112 11676112 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 23 39 0 ENST00000423059.4:c.667G>A p.Ala223Thr p.A223T ENST00000423059 NM_015204.2 223 Gcg/Acg 0 -THYN1 UCSF GRCh37 11 134118731 134118731 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 24 65 0 ENST00000341541.3:c.603G>A p.Gln201= p.Q201= ENST00000341541 NM_014174.2 201 caG/caA 0 -TIGD2 UCSF GRCh37 4 90034848 90034848 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 96 22 61 0 ENST00000317005.2:c.723C>T p.Asp241= p.D241= ENST00000317005 NM_145715.2 241 gaC/gaT 0 -TIMELESS UCSF GRCh37 12 56827356 56827357 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 0 ENST00000553532.1:c.332dup p.Leu111PhefsTer17 p.L111Ffs*17 ENST00000553532 111 ttg/tTtg 0 -TIPARP UCSF GRCh37 3 156421390 156421390 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 5 40 85 0 ENST00000461166.1:c.1425G>A p.Arg475= p.R475= ENST00000461166 NM_001184717.1 475 cgG/cgA 0 -TLN2 UCSF GRCh37 15 63076025 63076025 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 4 32 0 ENST00000561311.1:c.5672C>T p.Thr1891Ile p.T1891I ENST00000561311 1891 aCc/aTc 0 -TLR1 UCSF GRCh37 4 38799895 38799895 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 26 76 0 ENST00000308979.2:c.558C>T p.Asp186= p.D186= ENST00000308979 NM_003263.3 186 gaC/gaT 0 -TM7SF3 UCSF GRCh37 12 27128458 27128458 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 34 100 0 ENST00000343028.4:c.1421C>T p.Ala474Val p.A474V ENST00000343028 NM_016551.2 474 gCt/gTt 0 -TMC3 UCSF GRCh37 15 81648787 81648787 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 4 18 0 ENST00000359440.5:c.891+1G>A p.X297_splice ENST00000359440 NM_001080532.1 0 -TMC3 UCSF GRCh37 15 81633784 81633784 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 23 52 0 ENST00000359440.5:c.1791C>T p.Ser597= p.S597= ENST00000359440 NM_001080532.1 597 agC/agT 0 -TMEFF2 UCSF GRCh37 2 193059093 193059093 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 28 39 0 ENST00000272771.5:c.158G>A p.Gly53Asp p.G53D ENST00000272771 NM_016192.2 53 gGc/gAc 0 -TMEM106A UCSF GRCh37 17 41368603 41368603 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 68 52 77 0 ENST00000331615.3:c.565G>A p.Glu189Lys p.E189K ENST00000331615 NM_145041.1 189 Gaa/Aaa 0 -TMEM108 UCSF GRCh37 3 133114716 133114716 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 12 32 0 ENST00000321871.6:c.1614C>T p.Leu538= p.L538= ENST00000321871 NM_001136469.1 538 ctC/ctT 0 -TMEM132E UCSF GRCh37 17 32964821 32964821 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 7 18 0 ENST00000321639.5:c.2525C>T p.Ser842Phe p.S842F ENST00000321639 NM_207313.1 842 tCt/tTt 0 -TMEM173 UCSF GRCh37 5 138857072 138857072 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 5 29 0 ENST00000330794.4:c.788C>T p.Thr263Ile p.T263I ENST00000330794 NM_198282.2 263 aCc/aTc 0 -TMEM188 UCSF GRCh37 16 50063641 50063641 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 7 58 0 ENST00000458059.3:c.154C>T p.Leu52Phe p.L52F ENST00000458059 NM_153261.4 52 Ctt/Ttt 0 -TMEM196 UCSF GRCh37 7 19765226 19765226 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 27 54 0 ENST00000405764.3:c.370C>T p.Leu124Phe p.L124F ENST00000405764 NM_152774.3 124 Ctc/Ttc 0 -TMEM202 UCSF GRCh37 15 72699426 72699426 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 13 28 0 ENST00000341689.3:c.488-1G>A p.X163_splice ENST00000341689 NM_001080462.1 0 -TMEM214 UCSF GRCh37 2 27263055 27263055 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 5 48 0 ENST00000238788.9:c.1780C>T p.Leu594Phe p.L594F ENST00000238788 NM_017727.4 594 Ctc/Ttc 0 -TMEM22 UCSF GRCh37 3 136573939 136573939 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 56 94 0 ENST00000446465.2:c.637C>T p.Leu213Phe p.L213F ENST00000446465 NM_025246.2 213 Ctc/Ttc 0 -TMEM26 UCSF GRCh37 10 63195995 63195995 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 8 33 0 ENST00000399298.3:c.203C>T p.Ala68Val p.A68V ENST00000399298 NM_178505.6 68 gCc/gTc 0 -TMEM40 UCSF GRCh37 3 12791328 12791328 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 23 35 0 ENST00000314124.7:c.4G>A p.Glu2Lys p.E2K ENST00000314124 NM_018306.2 2 Gag/Aag 0 -TMEM45A UCSF GRCh37 3 100277310 100277310 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 44 82 0 ENST00000323523.4:c.465G>A p.Leu155= p.L155= ENST00000323523 NM_018004.1 155 ctG/ctA 0 -TMEM59 UCSF GRCh37 1 54502382 54502382 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 11 85 0 ENST00000234831.5:c.717G>A p.Gly239= p.G239= ENST00000234831 NM_004872.3 239 ggG/ggA 0 -TMEM72 UCSF GRCh37 10 45430347 45430347 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 40 74 0 ENST00000389583.4:c.593C>T p.Ala198Val p.A198V ENST00000389583 NM_001123376.1 198 gCc/gTc 0 -TMPRSS11E UCSF GRCh37 4 69362515 69362515 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 163 34 226 0 ENST00000305363.4:c.1265G>A p.Gly422Asp p.G422D ENST00000305363 NM_014058.3 422 gGt/gAt 0 -TMPRSS6 UCSF GRCh37 22 37462896 37462896 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 24 10 17 0 ENST00000346753.3:c.2247C>T p.Gly749= p.G749= ENST00000346753 NM_153609.2 749 ggC/ggT 0 -TMPRSS7 UCSF GRCh37 3 111793177 111793177 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 17 107 0 ENST00000419127.1:c.1323C>T p.Gly441= p.G441= ENST00000419127 NM_001042575.2 441 ggC/ggT 0 -TNC UCSF GRCh37 9 117853202 117853202 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.00296 P01_Rec Untested WXS Illumina HiSeq 49 20 47 0 ENST00000350763.4:c.96G>A p.Lys32= p.K32= ENST00000350763 NM_002160.3 32 aaG/aaA 0 -TNFRSF13C UCSF GRCh37 22 42321421 42321421 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 12 10 0 ENST00000291232.3:c.505G>A p.Gly169Ser p.G169S ENST00000291232 NM_052945.3 169 Ggc/Agc 0 -TNFRSF14 UCSF GRCh37 1 2493248 2493248 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 22 39 0 ENST00000355716.4:c.688C>T p.Pro230Ser p.P230S ENST00000355716 NM_003820.2 230 Cca/Tca 0 -TNFRSF8 UCSF GRCh37 1 12186062 12186062 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 45 6 26 0 ENST00000263932.2:c.1208C>T p.Ala403Val p.A403V ENST00000263932 NM_001243.3 403 gCc/gTc 0 -TNIK UCSF GRCh37 3 170784468 170784468 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 8 55 0 ENST00000436636.2:c.3756G>A p.Met1252Ile p.M1252I ENST00000436636 NM_015028.2 1252 atG/atA 0 -TNRC18 UCSF GRCh37 7 5399192 5399192 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 63 49 76 0 ENST00000430969.1:c.4670G>A p.Ser1557Asn p.S1557N ENST00000430969 NM_001080495.2 1557 aGc/aAc 0 -TNS1 UCSF GRCh37 2 218712366 218712366 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 27 27 0 ENST00000171887.4:c.2499G>A p.Gln833= p.Q833= ENST00000171887 NM_022648.4 833 caG/caA 0 -TNS4 UCSF GRCh37 17 38633947 38633947 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 8 23 0 ENST00000254051.6:c.2041C>T p.Pro681Ser p.P681S ENST00000254051 NM_032865.5 681 Cct/Tct 0 -TOM1 UCSF GRCh37 22 35742963 35742963 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 12 27 0 ENST00000411850.1:c.1325G>A p.Gly442Asp p.G442D ENST00000411850 NM_001135732.1 442 gGt/gAt 0 -TOM1L1 UCSF GRCh37 17 53016303 53016303 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 9 45 0 ENST00000575882.1:c.1052C>T p.Ser351Phe p.S351F ENST00000575882 NM_005486.2 351 tCt/tTt 0 -TOP2A UCSF GRCh37 17 38572281 38572281 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 84 10 93 0 ENST00000423485.1:c.308C>T p.Ser103Phe p.S103F ENST00000423485 NM_001067.3 103 tCt/tTt 0 -TOX UCSF GRCh37 8 59720800 59720800 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 57 15 67 0 ENST00000361421.1:c.1421C>T p.Thr474Ile p.T474I ENST00000361421 NM_014729.2 474 aCt/aTt 0 -TP53 UCSF GRCh37 17 7578527 7578527 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 8 8 15 0 ENST00000269305.4:c.403T>C p.Cys135Arg p.C135R ENST00000269305 NM_001126112.2 135 Tgc/Cgc 0 -TP53 UCSF GRCh37 17 7579310 7579310 + splice_donor_variant Splice_Site SNP A A C NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 17 19 55 0 ENST00000269305.4:c.375+2T>G p.X125_splice ENST00000269305 NM_001126112.2 0 -TP53I13 UCSF GRCh37 17 27898710 27898710 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 65 8 29 0 ENST00000301057.7:c.285C>T p.Thr95= p.T95= ENST00000301057 NM_138349.2 95 acC/acT 0 -TPCN2 UCSF GRCh37 11 68840147 68840147 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 4 13 0 ENST00000294309.3:c.1114G>A p.Asp372Asn p.D372N ENST00000294309 NM_139075.3 372 Gac/Aac 0 -TPPP2 UCSF GRCh37 14 21498789 21498789 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 10 6 13 0 ENST00000321760.6:c.49G>A p.Glu17Lys p.E17K ENST00000321760 NM_173846.4 17 Gaa/Aaa 0 -TPR UCSF GRCh37 1 186310473 186310473 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 51 46 79 0 ENST00000367478.4:c.3799G>A p.Glu1267Lys p.E1267K ENST00000367478 NM_003292.2 1267 Gaa/Aaa 0 -TPRG1L UCSF GRCh37 1 3542308 3542308 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 18 22 0 ENST00000378344.2:c.325C>T p.Leu109= p.L109= ENST00000378344 NM_182752.3 109 Ctg/Ttg 0 -TPX2 UCSF GRCh37 20 30366771 30366771 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 14 77 0 ENST00000300403.6:c.1038C>T p.Ser346= p.S346= ENST00000300403 NM_012112.4 346 agC/agT 0 -TRAF1 UCSF GRCh37 9 123675816 123675816 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 6 15 0 ENST00000373887.3:c.495C>T p.Tyr165= p.Y165= ENST00000373887 NM_005658.4 165 taC/taT 0 -TRAF3 UCSF GRCh37 14 103355934 103355934 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 29 94 0 ENST00000560371.1:c.689G>A p.Ser230Asn p.S230N ENST00000560371 NM_145725.2 230 aGc/aAc 0 -TRAF3IP1 UCSF GRCh37 2 239234489 239234489 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 31 93 0 ENST00000373327.4:c.232G>A p.Asp78Asn p.D78N ENST00000373327 NM_015650.3 78 Gac/Aac 0 -TRAF3IP1 UCSF GRCh37 2 239234494 239234494 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 34 87 0 ENST00000373327.4:c.237G>A p.Val79= p.V79= ENST00000373327 NM_015650.3 79 gtG/gtA 0 -TRAF7 UCSF GRCh37 16 2223935 2223935 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 20 34 0 ENST00000326181.6:c.1149G>A p.Gln383= p.Q383= ENST00000326181 NM_032271.2 383 caG/caA 0 -TRANK1 UCSF GRCh37 3 36897308 36897308 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 28 132 0 ENST00000429976.2:c.3773G>A p.Ser1258Asn p.S1258N ENST00000429976 1258 aGt/aAt 0 -TRANK1 UCSF GRCh37 3 36902590 36902590 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 46 16 103 0 ENST00000429976.2:c.1170C>T p.Phe390= p.F390= ENST00000429976 390 ttC/ttT 0 -TRAPPC10 UCSF GRCh37 21 45522744 45522744 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 39 19 29 0 ENST00000291574.4:c.3432G>A p.Arg1144= p.R1144= ENST00000291574 NM_003274.4 1144 agG/agA 0 -TRIB3 UCSF GRCh37 20 368870 368870 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 4 15 0 ENST00000217233.3:c.216C>T p.Val72= p.V72= ENST00000217233 NM_021158.3 72 gtC/gtT 0 -TRIM10 UCSF GRCh37 6 30122090 30122090 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 8 18 0 ENST00000449742.2:c.1102G>A p.Val368Met p.V368M ENST00000449742 NM_006778.3 368 Gtg/Atg 0 -TRIM33 UCSF GRCh37 1 114967346 114967346 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 35 24 59 0 ENST00000358465.2:c.1727A>G p.Gln576Arg p.Q576R ENST00000358465 NM_015906.3 576 cAa/cGa 0 -TRIM45 UCSF GRCh37 1 117663497 117663497 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 33 7 35 0 ENST00000256649.4:c.327G>A p.Lys109= p.K109= ENST00000256649 NM_025188.3 109 aaG/aaA 0 -TRIO UCSF GRCh37 5 14369561 14369561 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 20 22 0 ENST00000344204.4:c.3145C>T p.Pro1049Ser p.P1049S ENST00000344204 NM_007118.2 1049 Cca/Tca 0 -TRIO UCSF GRCh37 5 14368959 14368959 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 13 59 0 ENST00000344204.4:c.3017G>A p.Arg1006His p.R1006H ENST00000344204 NM_007118.2 1006 cGc/cAc 0 -TRIO UCSF GRCh37 5 14359496 14359496 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 27 19 40 0 ENST00000344204.4:c.2247C>T p.Pro749= p.P749= ENST00000344204 NM_007118.2 749 ccC/ccT 0 -TRMT1L UCSF GRCh37 1 185108515 185108515 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 31 8 36 0 ENST00000367506.5:c.1306G>A p.Val436Ile p.V436I ENST00000367506 NM_001202423.1 436 Gta/Ata 0 -TRPC4AP UCSF GRCh37 20 33637770 33637770 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 70 19 77 0 ENST00000252015.2:c.556G>A p.Glu186Lys p.E186K ENST00000252015 186 Gaa/Aaa 0 -TRPM2 UCSF GRCh37 21 45798961 45798961 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 7 22 0 ENST00000397928.1:c.1096G>A p.Val366Met p.V366M ENST00000397928 NM_003307.3 366 Gtg/Atg 0 -TRPM7 UCSF GRCh37 15 50935715 50935715 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 40 94 0 ENST00000313478.7:c.357C>T p.Val119= p.V119= ENST00000313478 NM_017672.4 119 gtC/gtT 0 -TRPS1 UCSF GRCh37 8 116430604 116430604 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 112 17 94 0 ENST00000395715.3:c.2777G>A p.Gly926Asp p.G926D ENST00000395715 NM_014112.2 926 gGc/gAc 0 -TRPV3 UCSF GRCh37 17 3427628 3427628 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 55 30 42 0 ENST00000301365.4:c.1607C>T p.Ser536Phe p.S536F ENST00000301365 536 tCt/tTt 0 -TRRAP UCSF GRCh37 7 98529278 98529278 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 44 8 51 0 ENST00000359863.4:c.3842C>T p.Pro1281Leu p.P1281L ENST00000359863 NM_001244580.1 1281 cCc/cTc 0 -TRRAP UCSF GRCh37 7 98567904 98567904 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 15 13 0 ENST00000359863.4:c.7661C>T p.Ser2554Phe p.S2554F ENST00000359863 NM_001244580.1 2554 tCc/tTc 0 -TSHR UCSF GRCh37 14 81610572 81610572 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 62 53 116 0 ENST00000298171.2:c.2170G>A p.Val724Ile p.V724I ENST00000298171 NM_000369.2 724 Gtt/Att 0 -TSHZ2 UCSF GRCh37 20 51870400 51870400 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 34 49 0 ENST00000371497.5:c.403G>A p.Asp135Asn p.D135N ENST00000371497 NM_173485.5 135 Gat/Aat 0 -TSPAN10 UCSF GRCh37 17 79612115 79612115 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 32 6 25 0 ENST00000328585.4:c.134G>A p.Cys45Tyr p.C45Y ENST00000328585 NM_031945.3 45 tGc/tAc 0 -TSPY8 UCSF GRCh37 Y 9196995 9196995 + intron_variant Intron SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 78 12 77 0 ENST00000330628.9:c.237+1307G>A *79* ENST00000330628 0 -TSSK1B UCSF GRCh37 5 112769861 112769861 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 43 8 41 0 ENST00000390666.3:c.676C>T p.Arg226Cys p.R226C ENST00000390666 NM_032028.3 226 Cgt/Tgt 0 -TSTA3 UCSF GRCh37 8 144698315 144698315 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 19 29 54 0 ENST00000425753.2:c.222G>A p.Gly74= p.G74= ENST00000425753 NM_003313.3 74 ggG/ggA 0 -TTC25 UCSF GRCh37 17 40117175 40117175 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 49 13 31 0 ENST00000591658.1:n.1564G>A *522* ENST00000591658 0 -TTC28 UCSF GRCh37 22 28559236 28559236 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 38 61 0 ENST00000397906.2:c.1285G>A p.Glu429Lys p.E429K ENST00000397906 NM_001145418.1 429 Gag/Aag 0 -TTLL4 UCSF GRCh37 2 219610436 219610436 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 5 9 0 ENST00000392102.1:c.1809G>A p.Gln603= p.Q603= ENST00000392102 NM_014640.4 603 caG/caA 0 -TTLL9 UCSF GRCh37 20 30526972 30526972 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 11 24 0 ENST00000375938.4:c.1146G>A p.Gly382= p.G382= ENST00000375938 382 ggG/ggA 0 -TTN UCSF GRCh37 2 179394972 179394972 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 143 23 146 0 ENST00000589042.1:c.106370G>A p.Gly35457Glu p.G35457E ENST00000589042 NM_001267550.1 35457 gGa/gAa 0 -TTN UCSF GRCh37 2 179456088 179456088 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 195 33 171 0 ENST00000589042.1:c.60364G>A p.Asp20122Asn p.D20122N ENST00000589042 NM_001267550.1 20122 Gat/Aat 0 -TTN UCSF GRCh37 2 179483047 179483047 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 125 84 182 0 ENST00000589042.1:c.47138G>A p.Ser15713Asn p.S15713N ENST00000589042 NM_001267550.1 15713 aGt/aAt 0 -TTN UCSF GRCh37 2 179426824 179426824 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 180 21 158 0 ENST00000589042.1:c.84035C>T p.Ser28012Phe p.S28012F ENST00000589042 NM_001267550.1 28012 tCt/tTt 0 -TTN UCSF GRCh37 2 179500785 179500785 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 78 53 108 0 ENST00000589042.1:c.41513C>T p.Thr13838Ile p.T13838I ENST00000589042 NM_001267550.1 13838 aCc/aTc 0 -TTN UCSF GRCh37 2 179411986 179411986 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 131 31 122 0 ENST00000589042.1:c.94266C>T p.Ala31422= p.A31422= ENST00000589042 NM_001267550.1 31422 gcC/gcT 0 -TUB UCSF GRCh37 11 8123085 8123085 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 26 3 31 0 ENST00000305253.4:c.1605G>A p.Met535Ile p.M535I ENST00000305253 NM_003320.4 535 atG/atA 0 -TUBAL3 UCSF GRCh37 10 5436047 5436047 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 48 40 47 0 ENST00000380419.3:c.774C>T p.Asp258= p.D258= ENST00000380419 NM_024803.2 258 gaC/gaT 0 -TUBGCP2 UCSF GRCh37 10 135102493 135102493 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 13 26 44 0 ENST00000543663.1:c.1476C>T p.Gly492= p.G492= ENST00000543663 492 ggC/ggT 0 -TUBGCP3 UCSF GRCh37 13 113201934 113201934 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 13 50 0 ENST00000261965.3:c.1168G>A p.Gly390Arg p.G390R ENST00000261965 NM_006322.4 390 Gga/Aga 0 -TULP1 UCSF GRCh37 6 35480615 35480615 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 33 4 16 0 ENST00000229771.6:c.21C>T p.Thr7= p.T7= ENST00000229771 NM_003322.3 7 acC/acT 0 -TYW1B UCSF GRCh37 7 72277868 72277868 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 27 50 0 ENST00000438904.2:c.514G>A p.Val172Ile p.V172I ENST00000438904 172 Gtt/Att 0 -UBA6 UCSF GRCh37 4 68492153 68492153 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 13 96 0 ENST00000322244.5:c.2443C>T p.Pro815Ser p.P815S ENST00000322244 NM_018227.5 815 Cct/Tct 0 -UBA6 UCSF GRCh37 4 68547836 68547836 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 9 54 0 ENST00000322244.5:c.229+1G>A p.X77_splice ENST00000322244 NM_018227.5 0 -UBASH3B UCSF GRCh37 11 122680560 122680560 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 41 35 62 0 ENST00000284273.5:c.1916G>A p.Gly639Asp p.G639D ENST00000284273 NM_032873.4 639 gGc/gAc 0 -UBE2Q2 UCSF GRCh37 15 76183356 76183356 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 80 14 104 0 ENST00000267938.4:c.1029+1G>A p.X343_splice ENST00000267938 NM_173469.2 0 -UBFD1 UCSF GRCh37 16 23569458 23569458 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 7 14 0 ENST00000395878.3:c.213C>T p.Val71= p.V71= ENST00000395878 NM_019116.2 71 gtC/gtT 0 -UBOX5 UCSF GRCh37 20 3102359 3102359 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 8 16 0 ENST00000217173.2:c.926G>A p.Gly309Glu p.G309E ENST00000217173 NM_001267584.1 309 gGg/gAg 0 -UBR2 UCSF GRCh37 6 42626058 42626058 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 28 102 0 ENST00000372899.1:c.3063G>A p.Glu1021= p.E1021= ENST00000372899 NM_015255.2 1021 gaG/gaA 0 -UBR4 UCSF GRCh37 1 19453006 19453006 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 17 77 0 ENST00000375254.3:c.9372G>A p.Leu3124= p.L3124= ENST00000375254 NM_020765.2 3124 ttG/ttA 0 -UBR4 UCSF GRCh37 1 19411132 19411132 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 19 29 0 ENST00000375254.3:c.14874C>T p.Ile4958= p.I4958= ENST00000375254 NM_020765.2 4958 atC/atT 0 -UCK1 UCSF GRCh37 9 134400576 134400576 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 41 14 26 0 ENST00000372211.3:c.700G>A p.Asp234Asn p.D234N ENST00000372211 234 Gac/Aac 0 -UCMA UCSF GRCh37 10 13264130 13264130 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 11 7 21 0 ENST00000378681.3:c.390C>T p.Ser130= p.S130= ENST00000378681 NM_145314.1 130 tcC/tcT 0 -UFD1L UCSF GRCh37 22 19455456 19455456 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 40 81 0 ENST00000263202.10:c.362C>T p.Thr121Ile p.T121I ENST00000263202 NM_005659.6 121 aCc/aTc 0 -UGGT1 UCSF GRCh37 2 128931358 128931358 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 22 51 0 ENST00000259253.6:c.3298G>A p.Asp1100Asn p.D1100N ENST00000259253 NM_020120.3 1100 Gac/Aac 0 -UGT2B4 UCSF GRCh37 4 70352375 70352375 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 119 28 157 0 ENST00000305107.6:c.1042G>A p.Gly348Arg p.G348R ENST00000305107 NM_021139.2 348 Gga/Aga 0 -ULK2 UCSF GRCh37 17 19687113 19687113 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 38 5 49 0 ENST00000395544.4:c.2357C>T p.Ala786Val p.A786V ENST00000395544 NM_014683.3 786 gCa/gTa 0 -UNC13B UCSF GRCh37 9 35399159 35399159 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 15 44 0 ENST00000378495.3:c.3829C>T p.Leu1277Phe p.L1277F ENST00000378495 NM_006377.3 1277 Ctc/Ttc 0 -UNC13C UCSF GRCh37 15 54860025 54860025 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 104 18 139 0 ENST00000260323.11:c.5986C>T p.Leu1996= p.L1996= ENST00000260323 NM_001080534.1 1996 Ctg/Ttg 0 -UNC45A UCSF GRCh37 15 91491966 91491966 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 4 9 0 ENST00000418476.2:c.1820C>T p.Pro607Leu p.P607L ENST00000418476 NM_018671.3 607 cCc/cTc 0 -UNC45A UCSF GRCh37 15 91488139 91488139 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 28 67 0 ENST00000418476.2:c.1045G>A p.Glu349Lys p.E349K ENST00000418476 NM_018671.3 349 Gaa/Aaa 0 -UNC80 UCSF GRCh37 2 210704070 210704070 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 53 15 52 0 ENST00000439458.1:c.3166G>A p.Ala1056Thr p.A1056T ENST00000439458 NM_032504.1 1056 Gcc/Acc 0 -UNC80 UCSF GRCh37 2 210834555 210834555 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 11 44 0 ENST00000439458.1:c.7872G>A p.Arg2624= p.R2624= ENST00000439458 NM_032504.1 2624 agG/agA 0 -UNC93A UCSF GRCh37 6 167711551 167711551 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 39 7 29 0 ENST00000230256.3:c.618C>T p.Ile206= p.I206= ENST00000230256 NM_018974.3 206 atC/atT 0 -UNC93B1 UCSF GRCh37 11 67765232 67765232 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 3 15 0 ENST00000227471.2:c.819G>A p.Lys273= p.K273= ENST00000227471 NM_030930.2 273 aaG/aaA 0 -UNK UCSF GRCh37 17 73816087 73816087 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 26 29 0 ENST00000589666.1:c.1735C>T p.Pro579Ser p.P579S ENST00000589666 NM_001080419.2 579 Cct/Tct 0 -UNKL UCSF GRCh37 16 1442949 1442949 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 6 10 12 0 ENST00000389221.4:c.957C>T p.Gly319= p.G319= ENST00000389221 NM_001193388.3 319 ggC/ggT 0 -UPK1B UCSF GRCh37 3 118913220 118913220 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 17 35 78 0 ENST00000264234.3:c.623G>A p.Gly208Asp p.G208D ENST00000264234 NM_006952.3 208 gGc/gAc 0 -URB1 UCSF GRCh37 21 33756656 33756656 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 85 47 108 0 ENST00000382751.3:c.400C>T p.Leu134Phe p.L134F ENST00000382751 NM_014825.2 134 Ctc/Ttc 0 -USH1C UCSF GRCh37 11 17517140 17517140 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 39 10 37 0 ENST00000005226.7:c.2631G>A p.Gly877= p.G877= ENST00000005226 NM_153676.3 877 ggG/ggA 0 -USH2A UCSF GRCh37 1 216011434 216011434 + synonymous_variant Silent SNP G G A NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 49 43 90 0 ENST00000307340.3:c.9270C>T p.Cys3090= p.C3090= ENST00000307340 NM_206933.2 3090 tgC/tgT 0 -USH2A UCSF GRCh37 1 215848193 215848193 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 19 32 0 ENST00000307340.3:c.13060G>A p.Ala4354Thr p.A4354T ENST00000307340 NM_206933.2 4354 Gct/Act 0 -USH2A UCSF GRCh37 1 216262370 216262370 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 37 131 0 ENST00000307340.3:c.4870G>A p.Asp1624Asn p.D1624N ENST00000307340 NM_206933.2 1624 Gat/Aat 0 -USHBP1 UCSF GRCh37 19 17362429 17362429 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 37 16 33 0 ENST00000252597.3:c.1884G>A p.Gln628= p.Q628= ENST00000252597 NM_031941.3 628 caG/caA 0 -USP16 UCSF GRCh37 21 30411418 30411418 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 67 32 48 0 ENST00000334352.4:c.804G>A p.Met268Ile p.M268I ENST00000334352 NM_001032410.1 268 atG/atA 0 -USP17L2 UCSF GRCh37 8 11995414 11995414 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 184 27 175 0 ENST00000333796.3:c.856G>A p.Val286Ile p.V286I ENST00000333796 NM_201402.2 286 Gtc/Atc 0 -USP24 UCSF GRCh37 1 55604643 55604643 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 9 74 0 ENST00000294383.6:c.2791G>A p.Ala931Thr p.A931T ENST00000294383 NM_015306.2 931 Gca/Aca 0 -USP31 UCSF GRCh37 16 23080422 23080422 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 60 12 62 0 ENST00000219689.7:c.3004C>T p.Pro1002Ser p.P1002S ENST00000219689 NM_020718.3 1002 Cca/Tca 0 -USP33 UCSF GRCh37 1 78194332 78194332 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 44 69 0 ENST00000370793.1:c.876G>A p.Met292Ile p.M292I ENST00000370793 NM_015017.4 292 atG/atA 0 -USP33 UCSF GRCh37 1 78167082 78167082 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 96 45 86 0 ENST00000370793.1:c.2574G>A p.Trp858Ter p.W858* ENST00000370793 NM_015017.4 858 tgG/tgA 0 -USP34 UCSF GRCh37 2 61441210 61441210 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 21 51 0 ENST00000398571.2:c.8667C>T p.Ala2889= p.A2889= ENST00000398571 NM_014709.3 2889 gcC/gcT 0 -USP34 UCSF GRCh37 2 61447539 61447539 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 90 60 106 0 ENST00000398571.2:c.7953C>T p.Pro2651= p.P2651= ENST00000398571 NM_014709.3 2651 ccC/ccT 0 -USP37 UCSF GRCh37 2 219360568 219360568 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 73 17 107 0 ENST00000258399.3:c.1387C>T p.Pro463Ser p.P463S ENST00000258399 NM_020935.2 463 Cca/Tca 0 -USP37 UCSF GRCh37 2 219353081 219353081 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 50 106 0 ENST00000258399.3:c.1536G>A p.Arg512= p.R512= ENST00000258399 NM_020935.2 512 agG/agA 0 -USP40 UCSF GRCh37 2 234429752 234429752 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 58 51 87 0 ENST00000450966.1:c.2243C>T p.Thr748Ile p.T748I ENST00000450966 NM_018218.2 748 aCc/aTc 0 -USP42 UCSF GRCh37 7 6155129 6155129 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 116 18 97 0 ENST00000306177.5:c.417G>A p.Met139Ile p.M139I ENST00000306177 NM_032172.2 139 atG/atA 0 -USP7 UCSF GRCh37 16 9002227 9002227 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 14 67 0 ENST00000344836.4:c.1242G>A p.Gln414= p.Q414= ENST00000344836 NM_003470.2 414 caG/caA 0 -VAC14 UCSF GRCh37 16 70806067 70806067 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 3 32 0 ENST00000261776.5:c.1105G>A p.Asp369Asn p.D369N ENST00000261776 NM_018052.3 369 Gat/Aat 0 -VAV2 UCSF GRCh37 9 136637120 136637120 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 23 44 0 ENST00000371850.3:c.2184G>A p.Trp728Ter p.W728* ENST00000371850 NM_001134398.1 728 tgG/tgA 0 -VCAN UCSF GRCh37 5 82837070 82837070 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 54 24 76 0 ENST00000265077.3:c.8248G>A p.Glu2750Lys p.E2750K ENST00000265077 NM_004385.4 2750 Gag/Aag 0 -VCAN UCSF GRCh37 5 82815919 82815919 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 69 57 107 0 ENST00000265077.3:c.1794G>A p.Glu598= p.E598= ENST00000265077 NM_004385.4 598 gaG/gaA 0 -VIL1 UCSF GRCh37 2 219294323 219294323 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 7 22 0 ENST00000248444.5:c.774G>A p.Val258= p.V258= ENST00000248444 NM_007127.2 258 gtG/gtA 0 -VPRBP UCSF GRCh37 3 51466911 51466911 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 14 38 124 0 ENST00000423656.1:c.192G>A p.Leu64= p.L64= ENST00000423656 64 ttG/ttA 0 -VPS13D UCSF GRCh37 1 12336545 12336545 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 77 17 61 0 ENST00000358136.3:c.2900G>A p.Gly967Asp p.G967D ENST00000358136 NM_015378.2 967 gGt/gAt 0 -VPS36 UCSF GRCh37 13 53000202 53000202 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 53 26 73 0 ENST00000378060.4:c.640-1G>A p.X214_splice ENST00000378060 NM_016075.2 0 -VPS52 UCSF GRCh37 6 33234964 33234964 + splice_donor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 17 27 0 ENST00000445902.2:c.1125+1G>A p.X375_splice ENST00000445902 NM_022553.4 0 -VPS53 UCSF GRCh37 17 556631 556631 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 89 21 94 0 ENST00000437048.2:c.508C>T p.Gln170Ter p.Q170* ENST00000437048 NM_001128159.2 170 Caa/Taa 0 -VSTM2A UCSF GRCh37 7 54617556 54617556 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 82 13 90 0 ENST00000407838.3:c.327C>T p.Ser109= p.S109= ENST00000407838 NM_182546.2 109 tcC/tcT 0 -VSX2 UCSF GRCh37 14 74726340 74726340 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 29 8 29 0 ENST00000261980.2:c.615G>A p.Lys205= p.K205= ENST00000261980 NM_182894.2 205 aaG/aaA 0 -VTCN1 UCSF GRCh37 1 117690383 117690383 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 62 25 83 0 ENST00000369458.3:c.746G>A p.Ser249Asn p.S249N ENST00000369458 NM_024626.3 249 aGt/aAt 0 -VWA3A UCSF GRCh37 16 22137503 22137503 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 123 63 99 0 ENST00000389398.5:c.1537G>A p.Val513Ile p.V513I ENST00000389398 NM_173615.3 513 Gtt/Att 0 -WARS2 UCSF GRCh37 1 119584944 119584944 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 57 10 39 0 ENST00000235521.4:c.458G>A p.Gly153Asp p.G153D ENST00000235521 NM_201263.2 153 gGc/gAc 0 -WDFY3 UCSF GRCh37 4 85707170 85707170 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 41 123 0 ENST00000295888.4:c.4024G>A p.Val1342Met p.V1342M ENST00000295888 NM_014991.4 1342 Gtg/Atg 0 -WDFY4 UCSF GRCh37 10 49951403 49951403 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 11 10 0 ENST00000325239.5:c.2269C>T p.Pro757Ser p.P757S ENST00000325239 NM_020945.1 757 Cca/Tca 0 -WDR1 UCSF GRCh37 4 10100664 10100664 + stop_gained Nonsense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 15 24 0 ENST00000499869.2:c.329G>A p.Trp110Ter p.W110* ENST00000499869 110 tGg/tAg 0 -WDR19 UCSF GRCh37 4 39207193 39207193 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 122 20 103 0 ENST00000399820.3:c.727G>A p.Gly243Ser p.G243S ENST00000399820 NM_025132.3 243 Ggc/Agc 0 -WDR19 UCSF GRCh37 4 39236403 39236403 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 106 16 98 0 ENST00000399820.3:c.2271G>A p.Gln757= p.Q757= ENST00000399820 NM_025132.3 757 caG/caA 0 -WDR3 UCSF GRCh37 1 118492674 118492674 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 79 64 129 0 ENST00000349139.5:c.1667G>A p.Ser556Asn p.S556N ENST00000349139 NM_006784.2 556 aGt/aAt 0 -WDR5 UCSF GRCh37 9 137005076 137005076 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 7 30 0 ENST00000358625.3:c.77G>A p.Ser26Asn p.S26N ENST00000358625 NM_017588.2 26 aGc/aAc 0 -WDR62 UCSF GRCh37 19 36564358 36564358 + stop_gained Nonsense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 22 24 13 0 ENST00000401500.2:c.1158G>A p.Trp386Ter p.W386* ENST00000401500 NM_001083961.1 386 tgG/tgA 0 -WDR81 UCSF GRCh37 17 1635993 1635993 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 4 9 0 ENST00000409644.1:c.4357G>A p.Gly1453Ser p.G1453S ENST00000409644 NM_001163809.1 1453 Ggc/Agc 0 -WDR87 UCSF GRCh37 19 38377201 38377201 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 105 71 130 0 ENST00000303868.5:c.6993C>T p.Cys2331= p.C2331= ENST00000303868 NM_031951.3 2331 tgC/tgT 0 -WDR93 UCSF GRCh37 15 90258214 90258214 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 66 14 79 0 ENST00000268130.7:c.644C>T p.Ala215Val p.A215V ENST00000268130 NM_020212.1 215 gCc/gTc 0 -WDR93 UCSF GRCh37 15 90270407 90270407 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 35 24 61 0 ENST00000268130.7:c.900C>T p.Pro300= p.P300= ENST00000268130 NM_020212.1 300 ccC/ccT 0 -WFDC3 UCSF GRCh37 20 44417682 44417682 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 37 76 0 ENST00000243938.4:c.99C>T p.Cys33= p.C33= ENST00000243938 NM_080614.1 33 tgC/tgT 0 -WHSC1 UCSF GRCh37 4 1902406 1902406 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 48 77 0 ENST00000382891.5:c.25C>T p.Pro9Ser p.P9S ENST00000382891 NM_133335.3 9 Ccc/Tcc 0 -WIPF1 UCSF GRCh37 2 175432672 175432672 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 25 7 22 0 ENST00000392547.2:c.1259C>T p.Pro420Leu p.P420L ENST00000392547 NM_003387.4 420 cCt/cTt 0 -WIPF3 UCSF GRCh37 7 29874426 29874426 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 26 23 49 0 ENST00000409290.1:c.86C>T p.Pro29Leu p.P29L ENST00000409290 NM_001080529.2 29 cCc/cTc 0 -WLS UCSF GRCh37 1 68619204 68619204 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 54 16 43 0 ENST00000354777.2:c.793G>A p.Glu265Lys p.E265K ENST00000354777 NM_001002292.3 265 Gaa/Aaa 0 -WNK3 UCSF GRCh37 X 54319365 54319365 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 4 35 0 ENST00000354646.2:c.1993C>T p.Pro665Ser p.P665S ENST00000354646 NM_020922.4 665 Ccc/Tcc 0 -WNK4 UCSF GRCh37 17 40948172 40948172 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 42 14 45 0 ENST00000246914.5:c.3463C>T p.Leu1155= p.L1155= ENST00000246914 NM_032387.4 1155 Cta/Tta 0 -WNT2B UCSF GRCh37 1 113010181 113010181 + missense_variant Missense_Mutation SNP G G T NOVEL P01_Rec Untested WXS Illumina HiSeq 17 4 27 1 ENST00000369686.5:c.22G>T p.Val8Leu p.V8L ENST00000369686 NM_004185.3 8 Gta/Tta 0 -WNT4 UCSF GRCh37 1 22447772 22447772 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 22 11 23 0 ENST00000290167.6:c.520G>A p.Glu174Lys p.E174K ENST00000290167 NM_030761.4 174 Gag/Aag 0 -WNT5A UCSF GRCh37 3 55513516 55513516 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 219 34 152 0 ENST00000474267.1:c.217G>A p.Ala73Thr p.A73T ENST00000474267 73 Gca/Aca 0 -WWC1 UCSF GRCh37 5 167798429 167798429 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 21 3 17 0 ENST00000521089.1:c.120G>A p.Arg40= p.R40= ENST00000521089 40 agG/agA 0 -WWC2 UCSF GRCh37 4 184205543 184205543 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 12 17 38 0 ENST00000403733.3:c.3048G>A p.Arg1016= p.R1016= ENST00000403733 NM_024949.5 1016 agG/agA 0 -XAB2 UCSF GRCh37 19 7689302 7689302 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 24 5 16 0 ENST00000358368.4:c.852G>A p.Arg284= p.R284= ENST00000358368 NM_020196.2 284 cgG/cgA 0 -XIRP1 UCSF GRCh37 3 39229241 39229241 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 7 42 0 ENST00000340369.3:c.1696G>A p.Glu566Lys p.E566K ENST00000340369 NM_194293.2 566 Gag/Aag 0 -XPO6 UCSF GRCh37 16 28192328 28192328 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 25 61 0 ENST00000304658.5:c.28G>A p.Ala10Thr p.A10T ENST00000304658 NM_015171.3 10 Gca/Aca 0 -XPOT UCSF GRCh37 12 64813888 64813888 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 70 12 73 0 ENST00000332707.5:c.528G>A p.Arg176= p.R176= ENST00000332707 NM_007235.4 176 agG/agA 0 -XRCC2 UCSF GRCh37 7 152346419 152346419 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 65 11 82 0 ENST00000359321.1:c.151G>A p.Gly51Arg p.G51R ENST00000359321 NM_005431.1 51 Gga/Aga 0 -XRCC4 UCSF GRCh37 5 82500646 82500646 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 48 6 37 0 ENST00000511817.1:c.651C>T p.Ile217= p.I217= ENST00000511817 217 atC/atT 0 -YIPF1 UCSF GRCh37 1 54348887 54348887 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 38 32 76 0 ENST00000072644.1:c.94G>A p.Asp32Asn p.D32N ENST00000072644 NM_018982.4 32 Gat/Aat 0 -YME1L1 UCSF GRCh37 10 27406657 27406657 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 83 25 101 0 ENST00000326799.3:c.1739-1G>A p.X580_splice ENST00000326799 NM_139312.2 0 -YTHDC2 UCSF GRCh37 5 112871458 112871458 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 23 25 75 0 ENST00000161863.4:c.1065C>T p.Leu355= p.L355= ENST00000161863 NM_022828.3 355 ctC/ctT 0 -YTHDF2 UCSF GRCh37 1 29069935 29069935 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 60 19 82 0 ENST00000373812.3:c.1153C>T p.Pro385Ser p.P385S ENST00000373812 NM_016258.2 385 Ccc/Tcc 0 -ZAN UCSF GRCh37 7 100350516 100350516 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 16 9 33 0 ENST00000546292.1:c.2788C>T p.Pro930Ser p.P930S ENST00000546292 NM_173059.1 930 Ccc/Tcc 0 -ZBTB1 UCSF GRCh37 14 64989761 64989761 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 130 63 162 0 ENST00000394712.2:c.1539C>T p.Asp513= p.D513= ENST00000394712 NM_001123329.1 513 gaC/gaT 0 -ZBTB10 UCSF GRCh37 8 81412055 81412055 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 174 35 180 0 ENST00000430430.1:c.1299C>T p.Ser433= p.S433= ENST00000430430 433 agC/agT 0 -ZC3H12A UCSF GRCh37 1 37945949 37945949 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 9 15 16 0 ENST00000373087.6:c.502C>T p.Leu168= p.L168= ENST00000373087 NM_025079.2 168 Ctg/Ttg 0 -ZC3H4 UCSF GRCh37 19 47588394 47588394 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 27 4 49 0 ENST00000253048.5:c.1026C>T p.Gly342= p.G342= ENST00000253048 NM_015168.1 342 ggC/ggT 0 -ZCCHC12 UCSF GRCh37 X 117959756 117959756 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 37 52 0 ENST00000310164.2:c.549G>A p.Glu183= p.E183= ENST00000310164 NM_173798.2 183 gaG/gaA 0 -ZCCHC6 UCSF GRCh37 9 88903610 88903610 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 20 6 32 0 ENST00000375963.3:c.4470G>A p.Arg1490= p.R1490= ENST00000375963 NM_001185059.1 1490 agG/agA 0 -ZDBF2 UCSF GRCh37 2 207175568 207175568 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 82 66 134 0 ENST00000374423.3:c.6316C>T p.Pro2106Ser p.P2106S ENST00000374423 NM_020923.1 2106 Cct/Tct 0 -ZFHX2 UCSF GRCh37 14 24003498 24003498 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 5 31 0 ENST00000419474.3:c.1037C>T p.Pro346Leu p.P346L ENST00000419474 NM_033400.2 346 cCc/cTc 0 -ZFHX2 UCSF GRCh37 14 24002867 24002867 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 65 25 61 0 ENST00000419474.3:c.1668C>T p.Pro556= p.P556= ENST00000419474 NM_033400.2 556 ccC/ccT 0 -ZFHX4 UCSF GRCh37 8 77764123 77764123 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 130 27 153 0 ENST00000521891.2:c.4966G>A p.Ala1656Thr p.A1656T ENST00000521891 NM_024721.4 1656 Gca/Aca 0 -ZFYVE16 UCSF GRCh37 5 79734594 79734594 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 78 18 78 0 ENST00000338008.5:c.2090C>T p.Pro697Leu p.P697L ENST00000338008 NM_014733.3 697 cCa/cTa 0 -ZFYVE16 UCSF GRCh37 5 79752881 79752881 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 71 12 82 0 ENST00000338008.5:c.3913G>A p.Ala1305Thr p.A1305T ENST00000338008 NM_014733.3 1305 Gcc/Acc 0 -ZFYVE28 UCSF GRCh37 4 2306889 2306889 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 21 8 18 0 ENST00000290974.2:c.1178G>A p.Gly393Asp p.G393D ENST00000290974 NM_020972.2 393 gGc/gAc 0 -ZFYVE28 UCSF GRCh37 4 2306375 2306375 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0012 P01_Rec Untested WXS Illumina HiSeq 5 12 8 0 ENST00000290974.2:c.1692C>T p.Cys564= p.C564= ENST00000290974 NM_020972.2 564 tgC/tgT 0 -ZIM3 UCSF GRCh37 19 57647316 57647316 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 52 20 123 0 ENST00000269834.1:c.389G>A p.Gly130Asp p.G130D ENST00000269834 NM_052882.1 130 gGc/gAc 0 -ZKSCAN3 UCSF GRCh37 6 28333633 28333633 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 96 39 60 0 ENST00000377255.3:c.1188G>A p.Lys396= p.K396= ENST00000377255 NM_001242894.1 396 aaG/aaA 0 -ZKSCAN5 UCSF GRCh37 7 99129352 99129352 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 83 43 67 0 ENST00000394170.2:c.2000G>A p.Gly667Glu p.G667E ENST00000394170 NM_014569.3 667 gGg/gAg 0 -ZMYM4 UCSF GRCh37 1 35873697 35873697 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 89 35 82 0 ENST00000314607.6:c.3885G>A p.Arg1295= p.R1295= ENST00000314607 NM_005095.2 1295 cgG/cgA 0 -ZNF17 UCSF GRCh37 19 57932525 57932525 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 47 17 118 0 ENST00000601808.1:c.1665G>A p.Glu555= p.E555= ENST00000601808 NM_006959.2 555 gaG/gaA 0 -ZNF211 UCSF GRCh37 19 58152405 58152405 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 12 24 41 0 ENST00000299871.5:c.746C>T p.Pro249Leu p.P249L ENST00000299871 NM_001265597.1 249 cCc/cTc 0 -ZNF224 UCSF GRCh37 19 44605305 44605305 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 50 46 78 0 ENST00000336976.6:c.162G>A p.Arg54= p.R54= ENST00000336976 NM_013398.2 54 agG/agA 0 -ZNF226 UCSF GRCh37 19 44681435 44681435 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 152 18 125 0 ENST00000590089.1:c.2020G>A p.Asp674Asn p.D674N ENST00000590089 674 Gat/Aat 0 -ZNF25 UCSF GRCh37 10 38241328 38241328 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 87 48 116 1 ENST00000302609.7:c.1098G>A p.Gly366= p.G366= ENST00000302609 NM_145011.2 366 ggG/ggA 0 -ZNF273 UCSF GRCh37 7 64377994 64377994 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 113 95 185 0 ENST00000476120.1:c.138C>T p.Phe46= p.F46= ENST00000476120 NM_021148.2 46 ttC/ttT 0 -ZNF275 UCSF GRCh37 X 152612560 152612560 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 20 12 17 0 ENST00000370251.3:c.417G>A p.Arg139= p.R139= ENST00000370251 NM_001080485.3 139 agG/agA 0 -ZNF28 UCSF GRCh37 19 53302984 53302984 + missense_variant Missense_Mutation SNP T T C NOVEL P01_Rec Untested WXS Illumina HiSeq 24 86 163 0 ENST00000457749.2:c.2114A>G p.Asn705Ser p.N705S ENST00000457749 NM_006969.3 705 aAc/aGc 0 -ZNF282 UCSF GRCh37 7 148910902 148910902 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 10 6 10 0 ENST00000262085.3:c.1176C>T p.Gly392= p.G392= ENST00000262085 NM_003575.2 392 ggC/ggT 0 -ZNF286B UCSF GRCh37 17 18565329 18565329 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 64 18 92 0 ENST00000545289.1:c.1490G>A p.Cys497Tyr p.C497Y ENST00000545289 NM_001145045.1 497 tGt/tAt 0 -ZNF292 UCSF GRCh37 6 87967271 87967271 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 25 44 124 0 ENST00000369577.3:c.3924C>T p.Ser1308= p.S1308= ENST00000369577 NM_015021.1 1308 tcC/tcT 0 -ZNF311 UCSF GRCh37 6 28966515 28966515 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 30 69 0 ENST00000377179.3:c.411C>T p.Tyr137= p.Y137= ENST00000377179 NM_001010877.2 137 taC/taT 0 -ZNF341 UCSF GRCh37 20 32354790 32354790 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 99 14 84 0 ENST00000342427.2:c.1335C>T p.Ser445= p.S445= ENST00000342427 NM_032819.3 445 agC/agT 0 -ZNF354A UCSF GRCh37 5 178152397 178152397 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 46 24 68 0 ENST00000335815.2:c.236G>A p.Gly79Asp p.G79D ENST00000335815 NM_005649.2 79 gGt/gAt 0 -ZNF354C UCSF GRCh37 5 178505788 178505788 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 61 47 91 0 ENST00000315475.6:c.355C>T p.His119Tyr p.H119Y ENST00000315475 NM_014594.1 119 Cac/Tac 0 -ZNF385B UCSF GRCh37 2 180634269 180634269 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 19 4 22 0 ENST00000410066.1:c.214C>T p.Pro72Ser p.P72S ENST00000410066 NM_152520.4 72 Cca/Tca 0 -ZNF410 UCSF GRCh37 14 74376048 74376048 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 61 49 109 0 ENST00000442160.3:c.969G>A p.Glu323= p.E323= ENST00000442160 NM_001242924.1 323 gaG/gaA 0 -ZNF425 UCSF GRCh37 7 148802315 148802315 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 29 23 38 0 ENST00000378061.2:c.648G>A p.Gln216= p.Q216= ENST00000378061 NM_001001661.2 216 caG/caA 0 -ZNF441 UCSF GRCh37 19 11891835 11891835 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 77 47 119 0 ENST00000357901.4:c.1196C>T p.Ala399Val p.A399V ENST00000357901 NM_152355.2 399 gCc/gTc 0 -ZNF451 UCSF GRCh37 6 57013222 57013222 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 37 12 57 0 ENST00000370706.4:c.2339G>A p.Ser780Asn p.S780N ENST00000370706 NM_001031623.2 780 aGt/aAt 0 -ZNF462 UCSF GRCh37 9 109687573 109687573 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 132 21 90 0 ENST00000277225.5:c.1380C>T p.Asn460= p.N460= ENST00000277225 460 aaC/aaT 0 -ZNF483 UCSF GRCh37 9 114304193 114304193 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 241 27 151 0 ENST00000309235.5:c.978G>A p.Arg326= p.R326= ENST00000309235 NM_133464.2 326 agG/agA 0 -ZNF493 UCSF GRCh37 19 21606767 21606767 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 57 122 0 ENST00000392288.2:c.1306G>A p.Glu436Lys p.E436K ENST00000392288 NM_001076678.2 436 Gaa/Aaa 0 -ZNF506 UCSF GRCh37 19 19916846 19916846 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 114 13 129 0 ENST00000443905.2:c.220C>T p.Pro74Ser p.P74S ENST00000443905 74 Ccc/Tcc 0 -ZNF507 UCSF GRCh37 19 32845510 32845510 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 34 22 81 0 ENST00000311921.4:c.1774G>A p.Glu592Lys p.E592K ENST00000311921 NM_014910.4 592 Gaa/Aaa 0 -ZNF518B UCSF GRCh37 4 10446731 10446731 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 129 91 188 0 ENST00000326756.3:c.1222G>A p.Val408Ile p.V408I ENST00000326756 NM_053042.2 408 Gtt/Att 0 -ZNF518B UCSF GRCh37 4 10445799 10445799 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 131 28 84 0 ENST00000326756.3:c.2154C>T p.Gly718= p.G718= ENST00000326756 NM_053042.2 718 ggC/ggT 0 -ZNF546 UCSF GRCh37 19 40520361 40520361 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 69 14 83 0 ENST00000347077.4:c.1184G>A p.Ser395Asn p.S395N ENST00000347077 NM_178544.3 395 aGt/aAt 0 -ZNF549 UCSF GRCh37 19 58049092 58049092 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 15 61 136 0 ENST00000376233.3:c.720C>T p.Val240= p.V240= ENST00000376233 NM_001199295.1 240 gtC/gtT 0 -ZNF555 UCSF GRCh37 19 2850645 2850645 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 80 57 97 0 ENST00000334241.4:c.64G>A p.Asp22Asn p.D22N ENST00000334241 NM_152791.4 22 Gat/Aat 0 -ZNF570 UCSF GRCh37 19 37975761 37975761 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 127 20 117 0 ENST00000330173.1:c.1237C>T p.Pro413Ser p.P413S ENST00000330173 NM_144694.1 413 Cct/Tct 0 -ZNF574 UCSF GRCh37 19 42582801 42582801 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 81 16 63 0 ENST00000600245.1:c.43C>T p.Arg15Cys p.R15C ENST00000600245 15 Cgc/Tgc 0 -ZNF598 UCSF GRCh37 16 2048796 2048796 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.086,1000g2011may_all_0.1651,snp132_rs1058474 P01_Rec Untested WXS Illumina HiSeq 9 5 8 0 ENST00000431526.1:c.2268G>A p.Arg756= p.R756= ENST00000431526 756 agG/agA 0 -ZNF609 UCSF GRCh37 15 64972457 64972457 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 31 13 29 0 ENST00000326648.3:c.3843G>A p.Lys1281= p.K1281= ENST00000326648 NM_015042.1 1281 aaG/aaA 0 -ZNF616 UCSF GRCh37 19 52620039 52620039 + missense_variant Missense_Mutation SNP A A C NOVEL P01_Rec somatic WXS Sanger Illumina HiSeq 11 87 150 0 ENST00000600228.1:c.378T>G p.His126Gln p.H126Q ENST00000600228 NM_178523.3 126 caT/caG 0 -ZNF638 UCSF GRCh37 2 71654398 71654398 + missense_variant Missense_Mutation SNP A A G NOVEL P01_Rec Untested WXS Illumina HiSeq 68 80 138 0 ENST00000409544.1:c.5399A>G p.Asp1800Gly p.D1800G ENST00000409544 NM_001252612.1 1800 gAc/gGc 0 -ZNF645 UCSF GRCh37 X 22291335 22291335 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P01_Rec Untested WXS Illumina HiSeq 19 0 ENST00000323684.1:c.227del p.Ala76ValfsTer26 p.A76Vfs*26 ENST00000323684 NM_152577.3 76 gCt/gt 0 -ZNF646 UCSF GRCh37 16 31089358 31089358 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 30 18 34 0 ENST00000300850.5:c.1713G>A p.Lys571= p.K571= ENST00000300850 NM_014699.3 571 aaG/aaA 0 -ZNF658 UCSF GRCh37 9 40773337 40773337 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.145,1000g2011may_all_0.2772,snp132_rs72624049 P01_Rec Untested WXS Illumina HiSeq 142 25 195 0 ENST00000602553.1:c.1938G>A p.Lys646= p.K646= ENST00000602553 646 aaG/aaA 0 -ZNF665 UCSF GRCh37 19 53669476 53669476 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 32 55 120 0 ENST00000396424.3:c.267G>A p.Gln89= p.Q89= ENST00000396424 NM_024733.3 89 caG/caA 0 -ZNF671 UCSF GRCh37 19 58232498 58232498 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 13 54 117 0 ENST00000317398.6:c.956G>A p.Gly319Glu p.G319E ENST00000317398 NM_024833.2 319 gGg/gAg 0 -ZNF680 UCSF GRCh37 7 63981939 63981939 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 128 21 125 0 ENST00000309683.6:c.1193G>A p.Arg398Lys p.R398K ENST00000309683 NM_178558.4 398 aGa/aAa 0 -ZNF687 UCSF GRCh37 1 151259011 151259011 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 40 5 46 0 ENST00000324048.5:c.244G>A p.Val82Ile p.V82I ENST00000324048 82 Gtc/Atc 0 -ZNF750 UCSF GRCh37 17 80790041 80790041 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 82 10 87 0 ENST00000269394.3:c.290C>T p.Ala97Val p.A97V ENST00000269394 NM_024702.2 97 gCc/gTc 0 -ZNF773 UCSF GRCh37 19 58017913 58017913 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 36 6 56 0 ENST00000282292.4:c.450G>A p.Arg150= p.R150= ENST00000282292 NM_198542.1 150 agG/agA 0 -ZNF789 UCSF GRCh37 7 99074104 99074104 + splice_donor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 3 15 0 ENST00000331410.5:c.24+1G>A p.X8_splice ENST00000331410 NM_213603.2 0 -ZNF804A UCSF GRCh37 2 185800689 185800689 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 76 10 90 0 ENST00000302277.6:c.566G>A p.Ser189Asn p.S189N ENST00000302277 NM_194250.1 189 aGt/aAt 0 -ZNF81 UCSF GRCh37 X 47755295 47755295 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 3 11 0 ENST00000376954.1:c.233G>A p.Gly78Glu p.G78E ENST00000376954 78 gGg/gAg 0 -ZNF90 UCSF GRCh37 19 20229997 20229997 + missense_variant Missense_Mutation SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 102 49 114 0 ENST00000418063.2:c.1634C>T p.Ala545Val p.A545V ENST00000418063 NM_007138.1 545 gCc/gTc 0 -ZNF90 UCSF GRCh37 19 20228589 20228589 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 59 32 117 0 ENST00000418063.2:c.227-1G>A p.X76_splice ENST00000418063 NM_007138.1 0 -ZNFX1 UCSF GRCh37 20 47865631 47865631 + synonymous_variant Silent SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 56 7 45 0 ENST00000396105.1:c.3930C>T p.Asp1310= p.D1310= ENST00000396105 NM_021035.2 1310 gaC/gaT 0 -ZNRF3 UCSF GRCh37 22 29446120 29446120 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 15 15 24 0 ENST00000544604.2:c.1951G>A p.Ala651Thr p.A651T ENST00000544604 NM_001206998.1 651 Gcc/Acc 0 -ZNRF4 UCSF GRCh37 19 5455737 5455737 + missense_variant Missense_Mutation SNP G G A NOVEL P01_Rec Untested WXS Illumina HiSeq 14 4 18 0 ENST00000222033.4:c.235G>A p.Ala79Thr p.A79T ENST00000222033 NM_181710.3 79 Gcc/Acc 0 -ZWILCH UCSF GRCh37 15 66806367 66806367 + synonymous_variant Silent SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 65 10 59 0 ENST00000307897.5:c.147C>T p.Asn49= p.N49= ENST00000307897 NM_017975.3 49 aaC/aaT 0 -ZZEF1 UCSF GRCh37 17 3999274 3999274 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P01_Rec Untested WXS Illumina HiSeq 49 6 52 0 ENST00000381638.2:c.1765-1G>A p.X589_splice ENST00000381638 NM_015113.3 0 -ANKRA2 UCSF GRCh37 5 72858699 72858699 + missense_variant Missense_Mutation SNP G G T NOVEL P02_Pri Untested WXS Illumina HiSeq 70 8 89 0 ENST00000296785.3:c.8C>A p.Thr3Lys p.T3K ENST00000296785 NM_023039.4 3 aCa/aAa 0 -ARID1A UCSF GRCh37 1 27106658 27106658 + missense_variant Missense_Mutation SNP A A G NOVEL P02_Pri somatic WXS Sanger Illumina HiSeq 34 13 97 0 ENST00000324856.7:c.6269A>G p.His2090Arg p.H2090R ENST00000324856 NM_006015.4 2090 cAc/cGc 0 -C7orf70 UCSF GRCh37 7 6370158 6370158 + missense_variant Missense_Mutation SNP G G A NOVEL P02_Pri Untested WXS Illumina HiSeq 114 18 195 1 ENST00000313324.4:c.628C>T p.Arg210Cys p.R210C ENST00000313324 NM_001037163.1 210 Cgc/Tgc 0 -CCDC168 UCSF GRCh37 13 103381996 103381996 + frameshift_variant Frame_Shift_Del DEL A A - snp132_rs34874700 P02_Pri Untested WXS Illumina HiSeq 6 0 ENST00000322527.2:c.7164delT p.Phe2388LeufsTer25 p.F2388Lfs*25 ENST00000322527 NM_001146197.1 2388 ttT/tt 0 -CYLC2 UCSF GRCh37 9 105767104 105767104 + missense_variant Missense_Mutation SNP G G A NOVEL P02_Pri Untested WXS Illumina HiSeq 27 21 45 0 ENST00000374798.3:c.308G>A p.Arg103His p.R103H ENST00000374798 NM_001340.3 103 cGt/cAt 0 -E2F8 UCSF GRCh37 11 19252368 19252368 + synonymous_variant Silent SNP G G A NOVEL P02_Pri Untested WXS Illumina HiSeq 36 20 48 0 ENST00000527884.1:c.1080C>T p.Val360= p.V360= ENST00000527884 NM_001256372.1 360 gtC/gtT 0 -EPS8L3 UCSF GRCh37 1 110293388 110293388 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.0085 P02_Pri Untested WXS Illumina HiSeq 8 6 17 0 ENST00000369805.3:c.1667C>T p.Thr556Met p.T556M ENST00000369805 NM_139053.2 556 aCg/aTg 0 -FAM149A UCSF GRCh37 4 187084645 187084645 + missense_variant Missense_Mutation SNP G G A NOVEL P02_Pri Untested WXS Illumina HiSeq 21 6 36 0 ENST00000227065.4:c.901G>A p.Gly301Arg p.G301R ENST00000227065 NM_015398.2 301 Gga/Aga 0 -FAM171A1 UCSF GRCh37 10 15296788 15296788 + missense_variant Missense_Mutation SNP G G A NOVEL P02_Pri Untested WXS Illumina HiSeq 19 12 55 0 ENST00000378116.4:c.509C>T p.Thr170Met p.T170M ENST00000378116 NM_001010924.1 170 aCg/aTg 0 -GATA6 UCSF GRCh37 18 19761487 19761487 + missense_variant Missense_Mutation SNP C C A NOVEL P02_Pri Untested WXS Illumina HiSeq 35 5 52 0 ENST00000269216.3:c.1376C>A p.Ala459Asp p.A459D ENST00000269216 NM_005257.4 459 gCc/gAc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P02_Pri Untested WXS Illumina HiSeq 29 35 77 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LAMB3 UCSF GRCh37 1 209805972 209805972 + missense_variant Missense_Mutation SNP C C T snp132_rs113063967 P02_Pri Untested WXS Illumina HiSeq 15 7 19 0 ENST00000391911.1:c.778G>A p.Ala260Thr p.A260T ENST00000391911 NM_001017402.1 260 Gca/Aca 0 -LRRC37A3 UCSF GRCh37 17 62856876 62856876 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.005,1000g2011may_all_0.0139,snp132_rs77916588 P02_Pri Untested WXS Illumina HiSeq 125 43 218 0 ENST00000584306.1:c.3388G>A p.Val1130Ile p.V1130I ENST00000584306 NM_199340.2 1130 Gtt/Att 0 -NEURL UCSF GRCh37 10 105349981 105349981 + missense_variant Missense_Mutation SNP A A C NOVEL P02_Pri Untested WXS Illumina HiSeq 15 13 47 0 ENST00000369780.4:c.1577A>C p.Glu526Ala p.E526A ENST00000369780 NM_004210.4 526 gAa/gCa 0 -OGT UCSF GRCh37 X 70787552 70787552 + missense_variant Missense_Mutation SNP C C A NOVEL P02_Pri Untested WXS Illumina HiSeq 12 12 60 0 ENST00000373719.3:c.2792C>A p.Thr931Asn p.T931N ENST00000373719 NM_181673.2 931 aCc/aAc 0 -RBBP7 UCSF GRCh37 X 16881197 16881197 + missense_variant Missense_Mutation SNP T T A NOVEL P02_Pri Untested WXS Illumina HiSeq 37 29 85 0 ENST00000380084.4:c.320A>T p.His107Leu p.H107L ENST00000380084 NM_001198719.1 107 cAt/cTt 0 -RHPN2 UCSF GRCh37 19 33490566 33490566 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.110,snp132_rs74582927 P02_Pri Untested WXS Illumina HiSeq 21 5 35 0 ENST00000254260.3:c.1151A>G p.Gln384Arg p.Q384R ENST00000254260 NM_033103.4 384 cAg/cGg 0 -SERPINB12 UCSF GRCh37 18 61228397 61228397 + missense_variant Missense_Mutation SNP G G T NOVEL P02_Pri Untested WXS Illumina HiSeq 75 26 104 0 ENST00000269491.1:c.464G>T p.Arg155Ile p.R155I ENST00000269491 NM_080474.1 155 aGa/aTa 0 -SLC39A12 UCSF GRCh37 10 18250713 18250713 + synonymous_variant Silent SNP T T C NOVEL P02_Pri Untested WXS Illumina HiSeq 58 19 94 0 ENST00000377369.2:c.465T>C p.Asp155= p.D155= ENST00000377369 NM_001145195.1 155 gaT/gaC 0 -SNCAIP UCSF GRCh37 5 121787259 121787259 + missense_variant Missense_Mutation SNP A A C NOVEL P02_Pri Untested WXS Illumina HiSeq 47 14 96 0 ENST00000261368.8:c.2717A>C p.Asn906Thr p.N906T ENST00000261368 NM_005460.2 906 aAc/aCc 0 -SPIC UCSF GRCh37 12 101880272 101880272 + missense_variant Missense_Mutation SNP G G T NOVEL P02_Pri Untested WXS Illumina HiSeq 100 35 131 0 ENST00000551346.1:c.470G>T p.Arg157Ile p.R157I ENST00000551346 157 aGa/aTa 0 -TP53 UCSF GRCh37 17 7578370 7578370 + splice_donor_variant Splice_Site SNP C C T NOVEL P02_Pri somatic WXS Sanger Illumina HiSeq 2 14 21 0 ENST00000269305.4:c.559+1G>A p.X187_splice ENST00000269305 NM_001126112.2 0 -TPTE2 UCSF GRCh37 13 20006639 20006639 + missense_variant Missense_Mutation SNP T T A NOVEL P02_Pri Untested WXS Illumina HiSeq 96 12 90 1 ENST00000400230.2:c.1196A>T p.Lys399Ile p.K399I ENST00000400230 399 aAa/aTa 0 -TRAPPC10 UCSF GRCh37 21 45502963 45502963 + missense_variant Missense_Mutation SNP C C T NOVEL P02_Pri Untested WXS Illumina HiSeq 35 27 92 0 ENST00000291574.4:c.2018C>T p.Ala673Val p.A673V ENST00000291574 NM_003274.4 673 gCg/gTg 0 -ZNF521 UCSF GRCh37 18 22804622 22804622 + missense_variant Missense_Mutation SNP C C G NOVEL P02_Pri Untested WXS Illumina HiSeq 43 5 69 1 ENST00000361524.3:c.3260G>C p.Gly1087Ala p.G1087A ENST00000361524 NM_015461.2 1087 gGc/gCc 0 -ZNF676 UCSF GRCh37 19 22364067 22364090 + inframe_deletion In_Frame_Del DEL CAAAATGATCTGACATATTCTTTA CAAAATGATCTGACATATTCTTTA - NOVEL P02_Pri Untested WXS Illumina HiSeq 6 0 ENST00000397121.2:c.429_452del p.Lys144_Cys151del p.K144_C151del ENST00000397121 NM_001001411.2 143 tgTAAAGAATATGTCAGATCATTTTGc/tgc 0 -ARID1A UCSF GRCh37 1 27106658 27106658 + missense_variant Missense_Mutation SNP A A G NOVEL P02_Rec somatic WXS Sanger Illumina HiSeq 87 13 97 0 ENST00000324856.7:c.6269A>G p.His2090Arg p.H2090R ENST00000324856 NM_006015.4 2090 cAc/cGc 0 -CEP350 UCSF GRCh37 1 180022947 180022948 + frameshift_variant Frame_Shift_Ins INS - - TCGACAGTATATGAAAGAGGAAGAAA NOVEL P02_Rec Untested WXS Illumina HiSeq 11 0 ENST00000367607.3:c.5052_5053insTCGACAGTATATGAAAGAGGAAGAAA p.Arg1685SerfsTer13 p.R1685Sfs*13 ENST00000367607 NM_014810.4 1684 -/TCGACAGTATATGAAAGAGGAAGAAA 0 -CYLC2 UCSF GRCh37 9 105767104 105767104 + missense_variant Missense_Mutation SNP G G A NOVEL P02_Rec Untested WXS Illumina HiSeq 35 34 45 0 ENST00000374798.3:c.308G>A p.Arg103His p.R103H ENST00000374798 NM_001340.3 103 cGt/cAt 0 -E2F8 UCSF GRCh37 11 19252368 19252368 + synonymous_variant Silent SNP G G A NOVEL P02_Rec Untested WXS Illumina HiSeq 36 21 48 0 ENST00000527884.1:c.1080C>T p.Val360= p.V360= ENST00000527884 NM_001256372.1 360 gtC/gtT 0 -EPS8L3 UCSF GRCh37 1 110293388 110293388 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.0085 P02_Rec Untested WXS Illumina HiSeq 23 20 17 0 ENST00000369805.3:c.1667C>T p.Thr556Met p.T556M ENST00000369805 NM_139053.2 556 aCg/aTg 0 -FAM171A1 UCSF GRCh37 10 15296788 15296788 + missense_variant Missense_Mutation SNP G G A NOVEL P02_Rec Untested WXS Illumina HiSeq 41 15 55 0 ENST00000378116.4:c.509C>T p.Thr170Met p.T170M ENST00000378116 NM_001010924.1 170 aCg/aTg 0 -FCGBP UCSF GRCh37 19 40368330 40368330 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.124,1000g2011may_all_0.2035,snp132_rs74540349 P02_Rec Untested WXS Illumina HiSeq 72 8 47 1 ENST00000221347.6:c.13018G>A p.Glu4340Lys p.E4340K ENST00000221347 NM_003890.2 4340 Gaa/Aaa 0 -GGT1 UCSF GRCh37 22 25011077 25011077 + missense_variant Missense_Mutation SNP C C T NOVEL P02_Rec Untested WXS Illumina HiSeq 19 4 24 0 ENST00000400382.1:c.365C>T p.Ser122Leu p.S122L ENST00000400382 NM_001288833.1 122 tCg/tTg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P02_Rec Untested WXS Illumina HiSeq 55 40 77 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LAMB3 UCSF GRCh37 1 209805972 209805972 + missense_variant Missense_Mutation SNP C C T snp132_rs113063967 P02_Rec Untested WXS Illumina HiSeq 18 8 19 0 ENST00000391911.1:c.778G>A p.Ala260Thr p.A260T ENST00000391911 NM_001017402.1 260 Gca/Aca 0 -LRP4 UCSF GRCh37 11 46898772 46898772 + synonymous_variant Silent SNP G G A NOVEL P02_Rec Untested WXS Illumina HiSeq 70 11 70 0 ENST00000378623.1:c.3255C>T p.Ala1085= p.A1085= ENST00000378623 NM_002334.3 1085 gcC/gcT 0 -LRRC37A3 UCSF GRCh37 17 62856876 62856876 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.005,1000g2011may_all_0.0139,snp132_rs77916588 P02_Rec Untested WXS Illumina HiSeq 206 29 218 0 ENST00000584306.1:c.3388G>A p.Val1130Ile p.V1130I ENST00000584306 NM_199340.2 1130 Gtt/Att 0 -MMRN1 UCSF GRCh37 4 90874492 90874492 + stop_gained Nonsense_Mutation SNP C C T NOVEL P02_Rec Untested WXS Illumina HiSeq 85 16 103 0 ENST00000394980.1:c.3610C>T p.Arg1204Ter p.R1204* ENST00000394980 1204 Cga/Tga 0 -NEURL UCSF GRCh37 10 105349981 105349981 + missense_variant Missense_Mutation SNP A A C NOVEL P02_Rec Untested WXS Illumina HiSeq 35 17 47 0 ENST00000369780.4:c.1577A>C p.Glu526Ala p.E526A ENST00000369780 NM_004210.4 526 gAa/gCa 0 -NPC1L1 UCSF GRCh37 7 44578793 44578793 + synonymous_variant Silent SNP G G A NOVEL P02_Rec Untested WXS Illumina HiSeq 79 9 79 0 ENST00000289547.4:c.1203C>T p.Phe401= p.F401= ENST00000289547 NM_013389.2 401 ttC/ttT 0 -OGT UCSF GRCh37 X 70787552 70787552 + missense_variant Missense_Mutation SNP C C A NOVEL P02_Rec Untested WXS Illumina HiSeq 21 12 60 0 ENST00000373719.3:c.2792C>A p.Thr931Asn p.T931N ENST00000373719 NM_181673.2 931 aCc/aAc 0 -PTPRM UCSF GRCh37 18 8244164 8244164 + synonymous_variant Silent SNP C C T NOVEL P02_Rec Untested WXS Illumina HiSeq 103 14 85 0 ENST00000580170.1:c.2409C>T p.Asp803= p.D803= ENST00000580170 NM_001105244.1 803 gaC/gaT 0 -RBBP7 UCSF GRCh37 X 16881197 16881197 + missense_variant Missense_Mutation SNP T T A NOVEL P02_Rec Untested WXS Illumina HiSeq 82 38 85 0 ENST00000380084.4:c.320A>T p.His107Leu p.H107L ENST00000380084 NM_001198719.1 107 cAt/cTt 0 -SERPINB12 UCSF GRCh37 18 61228397 61228397 + missense_variant Missense_Mutation SNP G G T NOVEL P02_Rec Untested WXS Illumina HiSeq 67 50 104 0 ENST00000269491.1:c.464G>T p.Arg155Ile p.R155I ENST00000269491 NM_080474.1 155 aGa/aTa 0 -SLC39A12 UCSF GRCh37 10 18250713 18250713 + synonymous_variant Silent SNP T T C NOVEL P02_Rec Untested WXS Illumina HiSeq 70 44 94 0 ENST00000377369.2:c.465T>C p.Asp155= p.D155= ENST00000377369 NM_001145195.1 155 gaT/gaC 0 -SPIC UCSF GRCh37 12 101880272 101880272 + missense_variant Missense_Mutation SNP G G T NOVEL P02_Rec Untested WXS Illumina HiSeq 72 58 131 0 ENST00000551346.1:c.470G>T p.Arg157Ile p.R157I ENST00000551346 157 aGa/aTa 0 -TP53 UCSF GRCh37 17 7578370 7578370 + splice_donor_variant Splice_Site SNP C C T NOVEL P02_Rec somatic WXS Sanger Illumina HiSeq 4 39 21 0 ENST00000269305.4:c.559+1G>A p.X187_splice ENST00000269305 NM_001126112.2 0 -TRAPPC10 UCSF GRCh37 21 45502963 45502963 + missense_variant Missense_Mutation SNP C C T NOVEL P02_Rec Untested WXS Illumina HiSeq 45 45 92 0 ENST00000291574.4:c.2018C>T p.Ala673Val p.A673V ENST00000291574 NM_003274.4 673 gCg/gTg 0 -WDR33 UCSF GRCh37 2 128463940 128463940 + missense_variant Missense_Mutation SNP G G C NOVEL P02_Rec Untested WXS Illumina HiSeq 107 15 101 0 ENST00000322313.4:c.3968C>G p.Pro1323Arg p.P1323R ENST00000322313 NM_018383.4 1323 cCg/cGg 0 -ZNF676 UCSF GRCh37 19 22364067 22364090 + inframe_deletion In_Frame_Del DEL CAAAATGATCTGACATATTCTTTA CAAAATGATCTGACATATTCTTTA - NOVEL P02_Rec Untested WXS Illumina HiSeq 9 0 ENST00000397121.2:c.429_452del p.Lys144_Cys151del p.K144_C151del ENST00000397121 NM_001001411.2 143 tgTAAAGAATATGTCAGATCATTTTGc/tgc 0 -ZNF676 UCSF GRCh37 19 22364102 22364146 + inframe_deletion In_Frame_Del DEL TTTCTCTCCAGTATGCCTTATCTTATGTCTGTTTGAATTTGAACA TTTCTCTCCAGTATGCCTTATCTTATGTCTGTTTGAATTTGAACA - NOVEL P02_Rec Untested WXS Illumina HiSeq 7 0 ENST00000397121.2:c.373_417del p.Cys125_Lys139del p.C125_K139del ENST00000397121 NM_001001411.2 125 TGTTCAAATTCAAACAGACATAAGATAAGGCATACTGGAGAGAAA/- 0 -ACSF2 UCSF GRCh37 17 48541208 48541208 + missense_variant Missense_Mutation SNP T T G NOVEL P04_Pri Untested WXS Illumina HiSeq 66 31 102 0 ENST00000300441.4:c.1076T>G p.Met359Arg p.M359R ENST00000300441 NM_025149.4 359 aTg/aGg 0 -BOD1L UCSF GRCh37 4 13604659 13604659 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Pri Untested WXS Illumina HiSeq 139 76 170 0 ENST00000040738.5:c.3865G>A p.Val1289Ile p.V1289I ENST00000040738 NM_148894.2 1289 Gtt/Att 0 -CAMT-ND2 UCSF GRCh37 3 12858462 12858462 + synonymous_variant Silent SNP C C T NOVEL P04_Pri somatic WXS Sanger Illumina HiSeq 33 25 61 1 ENST00000456430.2:c.2031C>T p.Asp677= p.D677= ENST00000456430 NM_001162499.1 677 gaC/gaT 0 -CDH7 UCSF GRCh37 18 63481815 63481815 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.013,1000g2011may_all_0.0353,snp132_rs17075245 P04_Pri Untested WXS Illumina HiSeq 110 54 141 0 ENST00000397968.2:c.600G>A p.Pro200= p.P200= ENST00000397968 NM_004361.2 200 ccG/ccA 0 -IDH1 UCSF GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Pri Untested WXS Illumina HiSeq 75 46 91 0 ENST00000345146.2:c.394C>T p.Arg132Cys p.R132C ENST00000345146 NM_005896.2 132 Cgt/Tgt 0 -MUC4 UCSF GRCh37 3 195506723 195506770 + inframe_deletion In_Frame_Del DEL TGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAG TGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAG - NOVEL P04_Pri Untested WXS Illumina HiSeq 8 0 ENST00000463781.3:c.11691_11738del p.Arg3900_Thr3915del p.R3900_T3915del ENST00000463781 NM_018406.6 3894 aCTTCCTCAGCATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACAct/act 0 -OR10V1 UCSF GRCh37 11 59480502 59480502 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Pri Untested WXS Illumina HiSeq 83 44 124 0 ENST00000307552.2:c.817C>T p.Arg273Trp p.R273W ENST00000307552 NM_001005324.1 273 Cgg/Tgg 0 -PSAPL1 UCSF GRCh37 4 7435803 7435803 + synonymous_variant Silent SNP G G A NOVEL P04_Pri somatic WXS Sanger Illumina HiSeq 101 42 122 0 ENST00000319098.4:c.804C>T p.Ala268= p.A268= ENST00000319098 NM_001085382.1 268 gcC/gcT 0 -RYR1 UCSF GRCh37 19 38939100 38939100 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.005,1000g2011may_all_0.0263 P04_Pri somatic WXS Sanger Illumina HiSeq 111 67 128 0 ENST00000359596.3:c.906C>T p.Asp302= p.D302= ENST00000359596 302 gaC/gaT 0 -PRAG1 UCSF GRCh37 8 8234869 8234870 + inframe_insertion In_Frame_Ins INS - - GCCGCT snp132_rs35972623 P04_Pri Untested WXS Illumina HiSeq 7 0 ENST00000520004.1:c.1049_1050insAGCGGC p.Ala351_Ser352insAlaAla p.A351_S352insAA ENST00000520004 350 ggc/ggAGCGGCc 0 -SLC9A4 UCSF GRCh37 2 103148842 103148842 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Pri Untested WXS Illumina HiSeq 78 36 142 0 ENST00000295269.4:c.2092C>T p.Arg698Trp p.R698W ENST00000295269 NM_001011552.3 698 Cgg/Tgg 0 -TEAD3 UCSF GRCh37 6 35454288 35454288 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Pri Untested WXS Illumina HiSeq 41 21 51 0 ENST00000338863.7:c.152C>T p.Pro51Leu p.P51L ENST00000338863 NM_003214.3 51 cCg/cTg 0 -TERF2IP UCSF GRCh37 16 75690462 75690462 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Pri Untested WXS Illumina HiSeq 128 82 160 0 ENST00000300086.4:c.1153T>C p.Phe385Leu p.F385L ENST00000300086 NM_018975.3 385 Ttt/Ctt 0 -TERF2IP UCSF GRCh37 16 75690302 75690302 + synonymous_variant Silent SNP A A C NOVEL P04_Pri Untested WXS Illumina HiSeq 131 83 138 0 ENST00000300086.4:c.993A>C p.Thr331= p.T331= ENST00000300086 NM_018975.3 331 acA/acC 0 -TP53 UCSF GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T snp132_rs11540652 P04_Pri somatic WXS Sanger Illumina HiSeq 24 54 41 0 ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 -WDFY4 UCSF GRCh37 10 50004488 50004488 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Pri Untested WXS Illumina HiSeq 116 50 143 0 ENST00000325239.5:c.4403A>G p.Asn1468Ser p.N1468S ENST00000325239 NM_020945.1 1468 aAt/aGt 0 -ZNF107 UCSF GRCh37 7 64167377 64167377 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Pri Untested WXS Illumina HiSeq 97 45 128 0 ENST00000395391.1:c.695C>G p.Thr232Ser p.T232S ENST00000395391 232 aCt/aGt 0 -ACSF2 UCSF GRCh37 17 48541208 48541208 + missense_variant Missense_Mutation SNP T T G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 46 40 102 0 ENST00000300441.4:c.1076T>G p.Met359Arg p.M359R ENST00000300441 NM_025149.4 359 aTg/aGg 0 -ADAM17 UCSF GRCh37 2 9630335 9630335 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 77 16 75 0 ENST00000310823.3:c.2446C>T p.Arg816Cys p.R816C ENST00000310823 NM_003183.4 816 Cgt/Tgt 0 -ADAM29 UCSF GRCh37 4 175898766 175898766 + missense_variant Missense_Mutation SNP T T A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 117 27 111 0 ENST00000359240.3:c.2090T>A p.Leu697His p.L697H ENST00000359240 NM_014269.4 697 cTt/cAt 0 -APOPT1 UCSF GRCh37 14 104040439 104040465 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TTAAGGAAAAAGAAGAATTTATTCACT TTAAGGAAAAAGAAGAATTTATTCACT AAGGAAAAAGAAGAATTTTTTAACC NOVEL P04_Rec1 Untested WXS Illumina HiSeq 6 0 ENST00000409074.2:c.361-5_382delinsAAGGAAAAAGAAGAATTTTTTAACC p.X121_splice ENST00000409074 NM_032374.3 0 -ATXN2L UCSF GRCh37 16 28840741 28840741 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 70 17 82 0 ENST00000395547.2:c.761A>G p.Asn254Ser p.N254S ENST00000395547 NM_148414.2 254 aAt/aGt 0 -BOD1L UCSF GRCh37 4 13604659 13604659 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec1 Untested WXS Illumina HiSeq 151 111 170 0 ENST00000040738.5:c.3865G>A p.Val1289Ile p.V1289I ENST00000040738 NM_148894.2 1289 Gtt/Att 0 -C5orf54 UCSF GRCh37 5 159822214 159822214 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 186 21 168 0 ENST00000408953.3:c.284C>T p.Ser95Leu p.S95L ENST00000408953 NM_022090.3 95 tCg/tTg 0 -TEX56P UCSF GRCh37 6 4087953 4087953 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec1 Untested WXS Illumina HiSeq 121 165 123 0 ENST00000380175.4:c.78G>C p.Lys26Asn p.K26N ENST00000380175 NM_001085401.2 26 aaG/aaC 0 -CDH7 UCSF GRCh37 18 63481815 63481815 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.013,1000g2011may_all_0.0353,snp132_rs17075245 P04_Rec1 Untested WXS Illumina HiSeq 111 82 141 0 ENST00000397968.2:c.600G>A p.Pro200= p.P200= ENST00000397968 NM_004361.2 200 ccG/ccA 0 -CYP2C9 UCSF GRCh37 10 96702051 96702051 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Rec1 Untested WXS Illumina HiSeq 90 56 121 0 ENST00000260682.6:c.434T>C p.Val145Ala p.V145A ENST00000260682 NM_000771.3 145 gTt/gCt 0 -DEFB126 UCSF GRCh37 20 126310 126311 + frameshift_variant Frame_Shift_Del DEL AC AC - NOVEL P04_Rec1 Untested WXS Illumina HiSeq 9 0 ENST00000382398.3:c.313_314del p.Thr105ProfsTer? p.T105Pfs*? ENST00000382398 NM_030931.3 105 ACc/c 0 -FAM206A UCSF GRCh37 9 111701942 111701942 + synonymous_variant Silent SNP T T C NOVEL P04_Rec1 Untested WXS Illumina HiSeq 99 63 123 0 ENST00000322940.6:c.522T>C p.Ile174= p.I174= ENST00000322940 NM_017832.3 174 atT/atC 0 -FUT11 UCSF GRCh37 10 75532510 75532510 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 10 6 18 0 ENST00000372841.3:c.419A>G p.Gln140Arg p.Q140R ENST00000372841 NM_173540.2 140 cAg/cGg 0 -HEY2 UCSF GRCh37 6 126080810 126080810 + synonymous_variant Silent SNP C C T NOVEL P04_Rec1 somatic WXS Sanger Illumina HiSeq 65 42 97 0 ENST00000368364.3:c.876C>T p.Asn292= p.N292= ENST00000368364 NM_012259.2 292 aaC/aaT 0 -IDH1 UCSF GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 101 61 91 0 ENST00000345146.2:c.394C>T p.Arg132Cys p.R132C ENST00000345146 NM_005896.2 132 Cgt/Tgt 0 -KIAA1731 UCSF GRCh37 11 93432660 93432660 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec1 Untested WXS Illumina HiSeq 223 68 184 0 ENST00000325212.6:c.4582G>C p.Glu1528Gln p.E1528Q ENST00000325212 1528 Gaa/Caa 0 -KRT83 UCSF GRCh37 12 52711478 52711478 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec1 Untested WXS Illumina HiSeq 93 13 88 0 ENST00000293670.3:c.737G>A p.Arg246Gln p.R246Q ENST00000293670 NM_002282.3 246 cGg/cAg 0 -LSG1 UCSF GRCh37 3 194369475 194369475 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 74 56 99 0 ENST00000265245.5:c.1478C>T p.Thr493Met p.T493M ENST00000265245 NM_018385.2 493 aCg/aTg 0 -MACF1 UCSF GRCh37 1 39934319 39934319 + synonymous_variant Silent SNP T T C NOVEL P04_Rec1 Untested WXS Illumina HiSeq 93 26 108 0 ENST00000545844.1:c.15609T>C p.Arg5203= p.R5203= ENST00000545844 5203 cgT/cgC 0 -MGAT4C UCSF GRCh37 12 86373731 86373731 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 141 43 120 0 ENST00000604798.1:c.773G>C p.Gly258Ala p.G258A ENST00000604798 258 gGc/gCc 0 -MRPL55 UCSF GRCh37 1 228295410 228295410 + missense_variant Missense_Mutation SNP T T G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 31 6 33 2 ENST00000366731.5:c.295A>C p.Thr99Pro p.T99P ENST00000366731 99 Acc/Ccc 0 -MRPS6 UCSF GRCh37 21 35514779 35514779 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Rec1 Untested WXS Illumina HiSeq 112 16 73 0 ENST00000399312.2:c.257T>C p.Ile86Thr p.I86T ENST00000399312 NM_032476.3 86 aTa/aCa 0 -MUC16 UCSF GRCh37 19 9070009 9070009 + stop_gained Nonsense_Mutation SNP C C A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 137 123 167 0 ENST00000397910.4:c.17437G>T p.Glu5813Ter p.E5813* ENST00000397910 NM_024690.2 5813 Gag/Tag 0 -OR10T2 UCSF GRCh37 1 158368385 158368385 + missense_variant Missense_Mutation SNP C C A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 65 29 88 0 ENST00000334438.1:c.872G>T p.Ser291Ile p.S291I ENST00000334438 NM_001004475.1 291 aGt/aTt 0 -PDZD2 UCSF GRCh37 5 32087897 32087897 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Rec1 somatic WXS Sanger Illumina HiSeq 36 11 40 0 ENST00000438447.1:c.4343A>G p.Asp1448Gly p.D1448G ENST00000438447 1448 gAc/gGc 0 -PSAPL1 UCSF GRCh37 4 7435803 7435803 + synonymous_variant Silent SNP G G A NOVEL P04_Rec1 somatic WXS Sanger Illumina HiSeq 59 51 122 0 ENST00000319098.4:c.804C>T p.Ala268= p.A268= ENST00000319098 NM_001085382.1 268 gcC/gcT 0 -RAP1GAP2 UCSF GRCh37 17 2909313 2909313 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec1 Untested WXS Illumina HiSeq 80 24 65 0 ENST00000254695.8:c.1337C>T p.Ser446Leu p.S446L ENST00000254695 NM_015085.4 446 tCg/tTg 0 -RIMBP2 UCSF GRCh37 12 130926571 130926571 + synonymous_variant Silent SNP G G A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 81 16 81 0 ENST00000261655.4:c.1275C>T p.Asn425= p.N425= ENST00000261655 NM_015347.4 425 aaC/aaT 0 -SLC9A4 UCSF GRCh37 2 103148842 103148842 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec1 Untested WXS Illumina HiSeq 81 64 142 0 ENST00000295269.4:c.2092C>T p.Arg698Trp p.R698W ENST00000295269 NM_001011552.3 698 Cgg/Tgg 0 -SPATA6 UCSF GRCh37 1 48764545 48764545 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 156 43 126 0 ENST00000371847.3:c.1307G>C p.Gly436Ala p.G436A ENST00000371847 NM_019073.2 436 gGc/gCc 0 -TDG UCSF GRCh37 12 104373729 104373730 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 9 0 ENST00000392872.3:c.292dup p.Ile98AsnfsTer6 p.I98Nfs*6 ENST00000392872 NM_003211.4 96 gaa/gaAa 0 -TEAD3 UCSF GRCh37 6 35454288 35454288 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec1 Untested WXS Illumina HiSeq 28 40 51 0 ENST00000338863.7:c.152C>T p.Pro51Leu p.P51L ENST00000338863 NM_003214.3 51 cCg/cTg 0 -TP53 UCSF GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T snp132_rs11540652 P04_Rec1 somatic WXS Sanger Illumina HiSeq 5 58 41 0 ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 -ZNF107 UCSF GRCh37 7 64167377 64167377 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec1 Untested WXS Illumina HiSeq 109 50 128 0 ENST00000395391.1:c.695C>G p.Thr232Ser p.T232S ENST00000395391 232 aCt/aGt 0 -ACSF2 UCSF GRCh37 17 48541208 48541208 + missense_variant Missense_Mutation SNP T T G NOVEL P04_Rec2 Untested WXS Illumina HiSeq 38 27 102 0 ENST00000300441.4:c.1076T>G p.Met359Arg p.M359R ENST00000300441 NM_025149.4 359 aTg/aGg 0 -APOBEC4 UCSF GRCh37 1 183617696 183617696 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec2 somatic WXS Sanger Illumina HiSeq 91 54 145 0 ENST00000308641.4:c.221C>G p.Ser74Cys p.S74C ENST00000308641 NM_203454.2 74 tCt/tGt 0 -BOD1L UCSF GRCh37 4 13604659 13604659 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec2 Untested WXS Illumina HiSeq 71 62 170 0 ENST00000040738.5:c.3865G>A p.Val1289Ile p.V1289I ENST00000040738 NM_148894.2 1289 Gtt/Att 0 -CDH7 UCSF GRCh37 18 63481815 63481815 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.013,1000g2011may_all_0.0353,snp132_rs17075245 P04_Rec2 Untested WXS Illumina HiSeq 66 49 141 0 ENST00000397968.2:c.600G>A p.Pro200= p.P200= ENST00000397968 NM_004361.2 200 ccG/ccA 0 -CFH UCSF GRCh37 1 196694259 196694259 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Rec2 Untested WXS Illumina HiSeq 70 44 95 0 ENST00000367429.4:c.1705T>C p.Cys569Arg p.C569R ENST00000367429 NM_000186.3 569 Tgc/Cgc 0 -CLASP1 UCSF GRCh37 2 122182732 122182732 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec2 Untested WXS Illumina HiSeq 59 62 135 0 ENST00000263710.4:c.2195C>G p.Pro732Arg p.P732R ENST00000263710 NM_015282.2 732 cCa/cGa 0 -COL13A1 UCSF GRCh37 10 71684757 71684757 + synonymous_variant Silent SNP C C T NOVEL P04_Rec2 somatic WXS Sanger Illumina HiSeq 18 8 25 0 ENST00000398978.3:c.1290C>T p.Gly430= p.G430= ENST00000398978 NM_001130103.1 430 ggC/ggT 0 -DPYSL4 UCSF GRCh37 10 134006219 134006219 + synonymous_variant Silent SNP C C G NOVEL P04_Rec2 Untested WXS Illumina HiSeq 54 23 95 0 ENST00000338492.4:c.186C>G p.Gly62= p.G62= ENST00000338492 NM_006426.2 62 ggC/ggG 0 -GABRE UCSF GRCh37 X 151123975 151123975 + synonymous_variant Silent SNP G G A NOVEL P04_Rec2 somatic WXS Sanger Illumina HiSeq 8 58 71 0 ENST00000370328.3:c.1002C>T p.Val334= p.V334= ENST00000370328 NM_004961.3 334 gtC/gtT 0 -GPR112 UCSF GRCh37 X 135453557 135453557 + missense_variant Missense_Mutation SNP G G T NOVEL P04_Rec2 Untested WXS Illumina HiSeq 5 42 51 0 ENST00000394143.1:c.7467G>T p.Glu2489Asp p.E2489D ENST00000394143 NM_153834.3 2489 gaG/gaT 0 -GULP1 UCSF GRCh37 2 189449083 189449083 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec2 Untested WXS Illumina HiSeq 84 52 131 0 ENST00000409580.1:c.701G>A p.Arg234His p.R234H ENST00000409580 234 cGc/cAc 0 -IDH1 UCSF GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec2 Untested WXS Illumina HiSeq 61 38 91 0 ENST00000345146.2:c.394C>T p.Arg132Cys p.R132C ENST00000345146 NM_005896.2 132 Cgt/Tgt 0 -LAMA3 UCSF GRCh37 18 21484018 21484018 + missense_variant Missense_Mutation SNP G G T NOVEL P04_Rec2 Untested WXS Illumina HiSeq 60 44 126 0 ENST00000313654.9:c.6440G>T p.Arg2147Leu p.R2147L ENST00000313654 NM_198129.1 2147 cGg/cTg 0 -PHRF1 UCSF GRCh37 11 587424 587424 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec2 Untested WXS Illumina HiSeq 38 49 99 0 ENST00000416188.2:c.380C>G p.Ala127Gly p.A127G ENST00000416188 127 gCc/gGc 0 -PSAP UCSF GRCh37 10 73579333 73579334 + frameshift_variant Frame_Shift_Ins INS - - CTTG NOVEL P04_Rec2 Untested WXS Illumina HiSeq 18 0 ENST00000394936.3:c.1238_1239insCAAG p.Lys413AsnfsTer26 p.K413Nfs*26 ENST00000394936 413 aag/aaCAAGg 0 -SLC9A4 UCSF GRCh37 2 103148842 103148842 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec2 Untested WXS Illumina HiSeq 52 33 142 0 ENST00000295269.4:c.2092C>T p.Arg698Trp p.R698W ENST00000295269 NM_001011552.3 698 Cgg/Tgg 0 -SLCO1B7 UCSF GRCh37 12 21200142 21200142 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P04_Rec2 Untested WXS Illumina HiSeq 41 0 ENST00000421593.2:c.989del p.Leu330CysfsTer28 p.L330Cfs*28 ENST00000421593 NM_001009562.4 329 Ttt/tt 0 -SNRPB UCSF GRCh37 20 2443747 2443747 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec2 Untested WXS Illumina HiSeq 39 38 103 0 ENST00000438552.2:c.547G>A p.Ala183Thr p.A183T ENST00000438552 NM_198216.1 183 Gca/Aca 0 -SPIRE1 UCSF GRCh37 18 12449679 12449679 + synonymous_variant Silent SNP G G C NOVEL P04_Rec2 somatic WXS Sanger Illumina HiSeq 29 29 96 0 ENST00000409402.4:c.2229C>G p.Pro743= p.P743= ENST00000409402 NM_001128626.1 743 ccC/ccG 0 -TEAD3 UCSF GRCh37 6 35454288 35454288 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec2 Untested WXS Illumina HiSeq 23 14 51 0 ENST00000338863.7:c.152C>T p.Pro51Leu p.P51L ENST00000338863 NM_003214.3 51 cCg/cTg 0 -TP53 UCSF GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T snp132_rs11540652 P04_Rec2 somatic WXS Sanger Illumina HiSeq 2 28 41 0 ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 -UBQLNL UCSF GRCh37 11 5536309 5536309 + missense_variant Missense_Mutation SNP G G C 1000g2010nov_all_0.027,1000g2011may_all_0.04739,snp132_rs12223282 P04_Rec2 Untested WXS Illumina HiSeq 48 47 133 0 ENST00000380184.1:c.1363C>G p.Gln455Glu p.Q455E ENST00000380184 NM_145053.4 455 Cag/Gag 0 -WDR72 UCSF GRCh37 15 54004993 54004993 + synonymous_variant Silent SNP C C T NOVEL P04_Rec2 Untested WXS Illumina HiSeq 55 43 93 0 ENST00000396328.1:c.687G>A p.Leu229= p.L229= ENST00000396328 NM_182758.3 229 ttG/ttA 0 -ZNF107 UCSF GRCh37 7 64167377 64167377 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec2 Untested WXS Illumina HiSeq 70 40 128 0 ENST00000395391.1:c.695C>G p.Thr232Ser p.T232S ENST00000395391 232 aCt/aGt 0 -ACSF2 UCSF GRCh37 17 48541208 48541208 + missense_variant Missense_Mutation SNP T T G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 59 41 102 0 ENST00000300441.4:c.1076T>G p.Met359Arg p.M359R ENST00000300441 NM_025149.4 359 aTg/aGg 0 -AKAP6 UCSF GRCh37 14 33242972 33242973 + protein_altering_variant In_Frame_Ins INS - - GCA NOVEL P04_Rec3 Untested WXS Illumina HiSeq 6 0 ENST00000280979.4:c.3461_3462insGCA p.Cys1154delinsTrpHis p.C1154delinsWH ENST00000280979 NM_004274.4 1154 tgc/tgGCAc 0 -AKR1D1 UCSF GRCh37 7 137782608 137782611 + splice_acceptor_variant,intron_variant Splice_Site DEL TCAG TCAG CAC NOVEL P04_Rec3 Untested WXS Illumina HiSeq 7 0 ENST00000242375.3:c.379-4_379-1delinsCAC p.X127_splice ENST00000242375 NM_005989.3 0 -APOBEC4 UCSF GRCh37 1 183617696 183617696 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec3 somatic WXS Sanger Illumina HiSeq 89 85 145 0 ENST00000308641.4:c.221C>G p.Ser74Cys p.S74C ENST00000308641 NM_203454.2 74 tCt/tGt 0 -ARHGEF17 UCSF GRCh37 11 73076827 73076827 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 52 11 51 0 ENST00000263674.3:c.5830C>T p.Leu1944Phe p.L1944F ENST00000263674 NM_014786.3 1944 Ctc/Ttc 0 -ATXN3 UCSF GRCh37 14 92555132 92555132 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 41 0 ENST00000393287.5:c.417del p.Pro140GlnfsTer3 p.P140Qfs*3 ENST00000393287 139 ggT/gg 0 -BOD1L UCSF GRCh37 4 13604659 13604659 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 123 106 170 0 ENST00000040738.5:c.3865G>A p.Val1289Ile p.V1289I ENST00000040738 NM_148894.2 1289 Gtt/Att 0 -C1orf124 UCSF GRCh37 1 231488849 231488851 + frameshift_variant Frame_Shift_Del DEL CCC CCC A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 20 0 ENST00000295050.7:c.1212_1214delinsA p.Phe404LeufsTer3 p.F404Lfs*3 ENST00000295050 NM_032018.5 404 ttCCCa/ttAa 0 -C5orf22 UCSF GRCh37 5 31541063 31541064 + frameshift_variant Frame_Shift_Del DEL AC AC - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 8 0 ENST00000325366.9:c.816_817del p.Tyr272Ter p.Y272* ENST00000325366 NM_018356.2 272 tAC/t 0 -C9orf84 UCSF GRCh37 9 114486071 114486071 + splice_donor_variant Splice_Site SNP C C G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 81 15 50 0 ENST00000374287.3:c.1762+1G>C p.X588_splice ENST00000374287 0 -CASP10 UCSF GRCh37 2 202050641 202050641 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 18 0 ENST00000286186.6:c.144del p.Asn49ThrfsTer23 p.N49Tfs*23 ENST00000286186 NM_032977.3 47 gtC/gt 0 -CCR4 UCSF GRCh37 3 32994946 32994946 + missense_variant Missense_Mutation SNP T T A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 68 15 102 0 ENST00000330953.5:c.32T>A p.Leu11His p.L11H ENST00000330953 NM_005508.4 11 cTc/cAc 0 -CDH7 UCSF GRCh37 18 63481815 63481815 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.013,1000g2011may_all_0.0353,snp132_rs17075245 P04_Rec3 Untested WXS Illumina HiSeq 93 67 141 0 ENST00000397968.2:c.600G>A p.Pro200= p.P200= ENST00000397968 NM_004361.2 200 ccG/ccA 0 -CFH UCSF GRCh37 1 196694259 196694259 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Rec3 Untested WXS Illumina HiSeq 78 68 95 0 ENST00000367429.4:c.1705T>C p.Cys569Arg p.C569R ENST00000367429 NM_000186.3 569 Tgc/Cgc 0 -CHRM1 UCSF GRCh37 11 62678364 62678364 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec3 Untested WXS Illumina HiSeq 74 12 96 0 ENST00000306960.3:c.209C>G p.Ala70Gly p.A70G ENST00000306960 NM_000738.2 70 gCt/gGt 0 -CLASP1 UCSF GRCh37 2 122182732 122182732 + missense_variant Missense_Mutation SNP G G C NOVEL P04_Rec3 Untested WXS Illumina HiSeq 121 106 135 0 ENST00000263710.4:c.2195C>G p.Pro732Arg p.P732R ENST00000263710 NM_015282.2 732 cCa/cGa 0 -CNKSR3 UCSF GRCh37 6 154763244 154763244 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 70 10 76 0 ENST00000607772.1:c.397G>A p.Ala133Thr p.A133T ENST00000607772 NM_173515.2 133 Gcc/Acc 0 -COL13A1 UCSF GRCh37 10 71684757 71684757 + synonymous_variant Silent SNP C C T NOVEL P04_Rec3 somatic WXS Sanger Illumina HiSeq 25 13 25 0 ENST00000398978.3:c.1290C>T p.Gly430= p.G430= ENST00000398978 NM_001130103.1 430 ggC/ggT 0 -CRTC2 UCSF GRCh37 1 153921068 153921068 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 95 18 92 0 ENST00000368633.1:c.1727C>T p.Pro576Leu p.P576L ENST00000368633 NM_181715.2 576 cCt/cTt 0 -CUL9 UCSF GRCh37 6 43190286 43190296 + frameshift_variant Frame_Shift_Del DEL GCGGAACCGGG GCGGAACCGGG - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 6 0 ENST00000252050.4:c.6939_6949del p.Leu2313PhefsTer6 p.L2313Ffs*6 ENST00000252050 NM_015089.2 2313 ttGCGGAACCGGGtg/tttg 0 -DDX60 UCSF GRCh37 4 169215051 169215051 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 118 27 114 0 ENST00000393743.3:c.769T>C p.Ser257Pro p.S257P ENST00000393743 NM_017631.5 257 Tct/Cct 0 -DGKI UCSF GRCh37 7 137172402 137172402 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Rec3 Untested WXS Illumina HiSeq 271 33 156 0 ENST00000288490.5:c.2336A>G p.Asp779Gly p.D779G ENST00000288490 NM_004717.2 779 gAc/gGc 0 -DPYSL4 UCSF GRCh37 10 134006219 134006219 + synonymous_variant Silent SNP C C G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 72 48 95 0 ENST00000338492.4:c.186C>G p.Gly62= p.G62= ENST00000338492 NM_006426.2 62 ggC/ggG 0 -DUOX1 UCSF GRCh37 15 45431646 45431649 + frameshift_variant Frame_Shift_Del DEL AGTT AGTT - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 15 0 ENST00000321429.4:c.1238_1241del p.Lys413IlefsTer66 p.K413Ifs*66 ENST00000321429 NM_017434.3 413 aAGTTt/at 0 -DYNC2H1 UCSF GRCh37 11 102984845 102984845 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 174 25 141 0 ENST00000398093.3:c.380G>A p.Ser127Asn p.S127N ENST00000398093 127 aGc/aAc 0 -DYNC2LI1 UCSF GRCh37 2 44021791 44021791 + intron_variant Intron DEL C C - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 34 0 ENST00000260605.8:c.507+9del *169* ENST00000260605 NM_001193464.1 0 -ERC1 UCSF GRCh37 12 1192504 1192504 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 15 0 ENST00000397203.2:c.846del p.Leu283PhefsTer20 p.L283Ffs*20 ENST00000397203 282 Ttt/tt 0 -FAM75D1 UCSF GRCh37 9 84606868 84606868 + missense_variant Missense_Mutation SNP C C A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 181 52 170 0 ENST00000344803.2:c.1483C>A p.His495Asn p.H495N ENST00000344803 NM_001001670.2 495 Cat/Aat 0 -FIGNL1 UCSF GRCh37 7 50514933 50514933 + missense_variant Missense_Mutation SNP T T A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 87 21 79 0 ENST00000419119.1:c.53A>T p.Tyr18Phe p.Y18F ENST00000419119 18 tAc/tTc 0 -FIGNL1 UCSF GRCh37 7 50514932 50514932 + synonymous_variant Silent SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 89 21 80 0 ENST00000419119.1:c.54C>T p.Tyr18= p.Y18= ENST00000419119 18 taC/taT 0 -GABRE UCSF GRCh37 X 151123975 151123975 + synonymous_variant Silent SNP G G A NOVEL P04_Rec3 somatic WXS Sanger Illumina HiSeq 9 92 71 0 ENST00000370328.3:c.1002C>T p.Val334= p.V334= ENST00000370328 NM_004961.3 334 gtC/gtT 0 -GLMN UCSF GRCh37 1 92713511 92713511 + synonymous_variant Silent SNP A A G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 124 26 70 0 ENST00000370360.3:c.1509T>C p.Asn503= p.N503= ENST00000370360 NM_053274.2 503 aaT/aaC 0 -GPR112 UCSF GRCh37 X 135453557 135453557 + missense_variant Missense_Mutation SNP G G T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 6 52 51 0 ENST00000394143.1:c.7467G>T p.Glu2489Asp p.E2489D ENST00000394143 NM_153834.3 2489 gaG/gaT 0 -GRWD1 UCSF GRCh37 19 48955968 48955968 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 34 13 61 0 ENST00000253237.5:c.1027G>A p.Gly343Ser p.G343S ENST00000253237 NM_031485.3 343 Ggt/Agt 0 -GULP1 UCSF GRCh37 2 189449083 189449083 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 86 62 131 0 ENST00000409580.1:c.701G>A p.Arg234His p.R234H ENST00000409580 234 cGc/cAc 0 -HMBOX1 UCSF GRCh37 8 28827573 28827573 + missense_variant Missense_Mutation SNP A A C NOVEL P04_Rec3 somatic WXS Sanger Illumina HiSeq 138 31 114 0 ENST00000397358.3:c.37A>C p.Met13Leu p.M13L ENST00000397358 NM_024567.3 13 Atg/Ctg 0 -HPS4 UCSF GRCh37 22 26862199 26862199 + missense_variant Missense_Mutation SNP C C A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 84 12 87 0 ENST00000398145.2:c.699G>T p.Gln233His p.Q233H ENST00000398145 NM_022081.5 233 caG/caT 0 -HSP90AB1 UCSF GRCh37 6 44217180 44217180 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 184 21 176 0 ENST00000371554.1:c.214A>G p.Lys72Glu p.K72E ENST00000371554 72 Aaa/Gaa 0 -IDH1 UCSF GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 94 62 91 0 ENST00000345146.2:c.394C>T p.Arg132Cys p.R132C ENST00000345146 NM_005896.2 132 Cgt/Tgt 0 -IK UCSF GRCh37 5 140041897 140041897 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 30 0 ENST00000417647.2:c.1660del p.Arg554AspfsTer7 p.R554Dfs*7 ENST00000417647 NM_006083.3 553 Aaa/aa 0 -ITIH5L UCSF GRCh37 X 54785050 54785050 + missense_variant Missense_Mutation SNP A A T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 22 14 31 0 ENST00000218436.6:c.1457T>A p.Val486Asp p.V486D ENST00000218436 NM_198510.2 486 gTt/gAt 0 -KCTD16 UCSF GRCh37 5 143587110 143587110 + splice_donor_variant Splice_Site SNP G G T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 87 12 88 0 ENST00000507359.3:c.832+1G>T p.X278_splice ENST00000507359 NM_020768.3 0 -LAMA3 UCSF GRCh37 18 21484018 21484018 + missense_variant Missense_Mutation SNP G G T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 76 62 126 0 ENST00000313654.9:c.6440G>T p.Arg2147Leu p.R2147L ENST00000313654 NM_198129.1 2147 cGg/cTg 0 -MBD4 UCSF GRCh37 3 129155548 129155548 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 6 0 ENST00000249910.1:c.939delA p.Glu314LysfsTer4 p.E314Kfs*4 ENST00000249910 313 aaA/aa 0 -MTTP UCSF GRCh37 4 100521799 100521799 + missense_variant Missense_Mutation SNP A A G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 125 31 125 0 ENST00000457717.1:c.1145A>G p.Lys382Arg p.K382R ENST00000457717 NM_000253.2 382 aAa/aGa 0 -MUC4 UCSF GRCh37 3 195506723 195506770 + inframe_deletion In_Frame_Del DEL TGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAG TGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATGCTGAGGAAG - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 8 0 ENST00000463781.3:c.11691_11738del p.Arg3900_Thr3915del p.R3900_T3915del ENST00000463781 NM_018406.6 3894 aCTTCCTCAGCATCCACACGTCACGCCACCCCTCTTCCTGTCACCGACAct/act 0 -MUC5B UCSF GRCh37 11 1253980 1253980 + missense_variant Missense_Mutation SNP A A G 1000g2010nov_all_0.103,snp132_rs115853043 P04_Rec3 Untested WXS Illumina HiSeq 10 4 15 1 ENST00000529681.1:c.2045A>G p.Asp682Gly p.D682G ENST00000529681 NM_002458.2 682 gAc/gGc 0 -PHRF1 UCSF GRCh37 11 587424 587424 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 66 37 99 0 ENST00000416188.2:c.380C>G p.Ala127Gly p.A127G ENST00000416188 127 gCc/gGc 0 -PSAP UCSF GRCh37 10 73579333 73579334 + frameshift_variant Frame_Shift_Ins INS - - CTTG NOVEL P04_Rec3 Untested WXS Illumina HiSeq 32 0 ENST00000394936.3:c.1238_1239insCAAG p.Lys413AsnfsTer26 p.K413Nfs*26 ENST00000394936 413 aag/aaCAAGg 0 -RFC3 UCSF GRCh37 13 34398063 34398063 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 6 0 ENST00000380071.3:c.244delA p.Ile82LeufsTer25 p.I82Lfs*25 ENST00000380071 NM_002915.3 79 Aaa/aa 0 -SH3TC1 UCSF GRCh37 4 8242506 8242509 + frameshift_variant Frame_Shift_Del DEL ATCT ATCT - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 11 0 ENST00000245105.3:c.3836_3839del p.Ile1279ThrfsTer96 p.I1279Tfs*96 ENST00000245105 NM_018986.3 1279 ATCTac/ac 0 -SLC9A4 UCSF GRCh37 2 103148842 103148842 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 91 53 142 0 ENST00000295269.4:c.2092C>T p.Arg698Trp p.R698W ENST00000295269 NM_001011552.3 698 Cgg/Tgg 0 -SLCO1B7 UCSF GRCh37 12 21200142 21200142 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 70 0 ENST00000421593.2:c.989del p.Leu330CysfsTer28 p.L330Cfs*28 ENST00000421593 NM_001009562.4 329 Ttt/tt 0 -SNRPB UCSF GRCh37 20 2443747 2443747 + missense_variant Missense_Mutation SNP C C T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 65 48 103 0 ENST00000438552.2:c.547G>A p.Ala183Thr p.A183T ENST00000438552 NM_198216.1 183 Gca/Aca 0 -SORCS1 UCSF GRCh37 10 108431048 108431048 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 16 0 ENST00000344440.6:c.2136del p.Tyr712Ter p.Y712* ENST00000344440 NM_001206571.1 712 taT/ta 0 -SPIRE1 UCSF GRCh37 18 12449679 12449679 + synonymous_variant Silent SNP G G C NOVEL P04_Rec3 somatic WXS Sanger Illumina HiSeq 49 49 96 0 ENST00000409402.4:c.2229C>G p.Pro743= p.P743= ENST00000409402 NM_001128626.1 743 ccC/ccG 0 -TEAD3 UCSF GRCh37 6 35454288 35454288 + missense_variant Missense_Mutation SNP G G A NOVEL P04_Rec3 Untested WXS Illumina HiSeq 29 35 51 0 ENST00000338863.7:c.152C>T p.Pro51Leu p.P51L ENST00000338863 NM_003214.3 51 cCg/cTg 0 -TP53 UCSF GRCh37 17 7577538 7577538 + missense_variant Missense_Mutation SNP C C T snp132_rs11540652 P04_Rec3 somatic WXS Sanger Illumina HiSeq 7 43 41 0 ENST00000269305.4:c.743G>A p.Arg248Gln p.R248Q ENST00000269305 NM_001126112.2 248 cGg/cAg 0 -UBQLNL UCSF GRCh37 11 5536309 5536309 + missense_variant Missense_Mutation SNP G G C 1000g2010nov_all_0.027,1000g2011may_all_0.04739,snp132_rs12223282 P04_Rec3 Untested WXS Illumina HiSeq 83 84 133 0 ENST00000380184.1:c.1363C>G p.Gln455Glu p.Q455E ENST00000380184 NM_145053.4 455 Cag/Gag 0 -USP24 UCSF GRCh37 1 55591187 55591187 + synonymous_variant Silent SNP A A G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 210 39 182 0 ENST00000294383.6:c.3766T>C p.Leu1256= p.L1256= ENST00000294383 NM_015306.2 1256 Tta/Cta 0 -WDR72 UCSF GRCh37 15 54004993 54004993 + synonymous_variant Silent SNP C C T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 77 57 93 0 ENST00000396328.1:c.687G>A p.Leu229= p.L229= ENST00000396328 NM_182758.3 229 ttG/ttA 0 -WWC3 UCSF GRCh37 X 10046914 10046914 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL G G - NOVEL P04_Rec3 Untested WXS Illumina HiSeq 27 0 ENST00000380861.4:c.297+1del R99fs ENST00000380861 NM_015691.3 99 aGg/ag 0 -ZNF107 UCSF GRCh37 7 64167377 64167377 + missense_variant Missense_Mutation SNP C C G NOVEL P04_Rec3 Untested WXS Illumina HiSeq 90 58 128 0 ENST00000395391.1:c.695C>G p.Thr232Ser p.T232S ENST00000395391 232 aCt/aGt 0 -ZNF135 UCSF GRCh37 19 58579378 58579378 + missense_variant Missense_Mutation SNP T T C NOVEL P04_Rec3 Untested WXS Illumina HiSeq 148 27 145 1 ENST00000401053.4:c.1598T>C p.Leu533Pro p.L533P ENST00000401053 NM_001164529.1 533 cTc/cCc 0 -ZZEF1 UCSF GRCh37 17 3917753 3917753 + stop_gained Nonsense_Mutation SNP G G T NOVEL P04_Rec3 Untested WXS Illumina HiSeq 128 33 115 0 ENST00000381638.2:c.8202C>A p.Cys2734Ter p.C2734* ENST00000381638 NM_015113.3 2734 tgC/tgA 0 -AHCYL1 UCSF GRCh37 1 110561727 110561727 + missense_variant Missense_Mutation SNP A A C snp132_rs75754234 P05_Pri Untested WXS Illumina HiSeq 36 7 56 1 ENST00000369799.5:c.1372A>C p.Thr458Pro p.T458P ENST00000369799 NM_001242674.1 458 Aca/Cca 0 -ARID2 UCSF GRCh37 12 46244079 46244079 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Pri Untested WXS Illumina HiSeq 63 27 100 0 ENST00000334344.6:c.2173C>T p.Gln725Ter p.Q725* ENST00000334344 NM_152641.2 725 Cag/Tag 0 -ATAD5 UCSF GRCh37 17 29219740 29219740 + missense_variant Missense_Mutation SNP T T G snp132_rs74661926 P05_Pri Untested WXS Illumina HiSeq 61 15 101 0 ENST00000321990.4:c.4374T>G p.Cys1458Trp p.C1458W ENST00000321990 NM_024857.3 1458 tgT/tgG 0 -ATRX UCSF GRCh37 X 76890167 76890167 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Pri somatic WXS Sanger Illumina HiSeq 44 23 140 0 ENST00000373344.5:c.4727G>A p.Cys1576Tyr p.C1576Y ENST00000373344 NM_000489.3 1576 tGt/tAt 0 -ATRX UCSF GRCh37 X 76875979 76875979 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Pri Untested WXS Illumina HiSeq 52 9 54 0 ENST00000373344.5:c.5156A>G p.Asp1719Gly p.D1719G ENST00000373344 NM_000489.3 1719 gAt/gGt 0 -C6orf103 UCSF GRCh37 6 147012388 147012388 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 74 32 122 0 ENST00000397944.3:c.1448G>A p.Arg483His p.R483H ENST00000397944 NM_024694.3 483 cGt/cAt 0 -C7orf63 UCSF GRCh37 7 89906426 89906426 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Pri Untested WXS Illumina HiSeq 60 29 24 0 ENST00000389297.4:c.1024T>C p.Phe342Leu p.F342L ENST00000389297 NM_001039706.2 342 Ttt/Ctt 0 -CASP12 UCSF GRCh37 11 104761174 104761174 + synonymous_variant Silent SNP A A G NOVEL P05_Pri Untested WXS Illumina HiSeq 32 4 36 1 ENST00000422698.2:c.744T>C p.Gly248= p.G248= ENST00000422698 NM_001191016.1 248 ggT/ggC 0 -CCNC UCSF GRCh37 6 99993044 99993044 + synonymous_variant Silent SNP T T C NOVEL P05_Pri Untested WXS Illumina HiSeq 67 19 49 0 ENST00000520429.1:c.741A>G p.Arg247= p.R247= ENST00000520429 NM_005190.3 247 agA/agG 0 -CEACAM6 UCSF GRCh37 19 42260811 42260811 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P05_Pri Untested WXS Illumina HiSeq 38 0 ENST00000199764.6:c.369del p.Val124SerfsTer2 p.V124Sfs*2 ENST00000199764 NM_002483.4 123 cAa/ca 0 -CELA3B UCSF GRCh37 1 22310235 22310235 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.009,snp132_rs113497474 P05_Pri Untested WXS Illumina HiSeq 17 4 62 1 ENST00000337107.6:c.411C>T p.Asp137= p.D137= ENST00000337107 NM_007352.2 137 gaC/gaT 0 -CIT UCSF GRCh37 12 120148087 120148087 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Pri Untested WXS Illumina HiSeq 60 18 99 0 ENST00000392521.2:c.5040C>G p.Ile1680Met p.I1680M ENST00000392521 NM_001206999.1 1680 atC/atG 0 -CLK2 UCSF GRCh37 1 155238508 155238508 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Pri Untested WXS Illumina HiSeq 24 8 27 1 ENST00000361168.5:c.475C>A p.Gln159Lys p.Q159K ENST00000361168 159 Caa/Aaa 0 -CNNM2 UCSF GRCh37 10 104679671 104679671 + stop_gained Nonsense_Mutation SNP C C A NOVEL P05_Pri Untested WXS Illumina HiSeq 43 9 52 0 ENST00000369878.4:c.1434C>A p.Tyr478Ter p.Y478* ENST00000369878 NM_017649.4 478 taC/taA 0 -CSMD3 UCSF GRCh37 8 113326817 113326817 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Pri Untested WXS Illumina HiSeq 44 11 53 1 ENST00000297405.5:c.7390G>A p.Asp2464Asn p.D2464N ENST00000297405 NM_198123.1 2464 Gat/Aat 0 -FGF9 UCSF GRCh37 13 22246317 22246317 + missense_variant Missense_Mutation SNP A A C snp132_rs117849081 P05_Pri Untested WXS Illumina HiSeq 9 6 56 1 ENST00000382353.5:c.266A>C p.His89Pro p.H89P ENST00000382353 NM_002010.2 89 cAc/cCc 0 -GPC3 UCSF GRCh37 X 132888089 132888089 + missense_variant Missense_Mutation SNP T T A NOVEL P05_Pri Untested WXS Illumina HiSeq 52 18 157 0 ENST00000394299.2:c.452A>T p.Asp151Val p.D151V ENST00000394299 NM_001164617.1 151 gAt/gTt 0 -HHLA1 UCSF GRCh37 8 133092007 133092007 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Pri Untested WXS Illumina HiSeq 12 11 15 1 ENST00000434736.2:c.991A>C p.Thr331Pro p.T331P ENST00000434736 331 Aca/Cca 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Pri Untested WXS Illumina HiSeq 40 24 75 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL1R1 UCSF GRCh37 2 102785059 102785059 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 44 18 57 0 ENST00000410023.1:c.657G>A p.Glu219= p.E219= ENST00000410023 219 gaG/gaA 0 -LRRC33 UCSF GRCh37 3 196388593 196388593 + stop_lost Nonstop_Mutation SNP A A G NOVEL P05_Pri Untested WXS Illumina HiSeq 16 3 35 0 ENST00000328557.4:c.2079A>G p.Ter693TrpextTer25 p.*693Wext*25 ENST00000328557 NM_198565.1 693 tgA/tgG 0 -LYVE1 UCSF GRCh37 11 10582206 10582206 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 50 16 85 0 ENST00000256178.3:c.539C>T p.Ala180Val p.A180V ENST00000256178 NM_006691.3 180 gCc/gTc 0 -MAGEC1 UCSF GRCh37 X 140994085 140994085 + missense_variant Missense_Mutation SNP C C G 1000g2010nov_all_0.09062,1000g2011may_all_0.1531,snp132_rs176046 P05_Pri Untested WXS Illumina HiSeq 44 8 43 0 ENST00000285879.4:c.895C>G p.Pro299Ala p.P299A ENST00000285879 NM_005462.4 299 Ccc/Gcc 0 -MAP2 UCSF GRCh37 2 210569173 210569173 + intron_variant Intron SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 50 10 45 1 ENST00000360351.4:c.4585-1131G>A *1529* ENST00000360351 NM_002374.3 0 -NR1I3 UCSF GRCh37 1 161203098 161203098 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Pri Untested WXS Illumina HiSeq 27 7 72 0 ENST00000367980.2:c.269G>A p.Arg90Gln p.R90Q ENST00000367980 NM_001077481.2 90 cGg/cAg 0 -PCDH17 UCSF GRCh37 13 58298890 58298890 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Pri Untested WXS Illumina HiSeq 58 11 83 0 ENST00000377918.3:c.2942A>C p.Asn981Thr p.N981T ENST00000377918 NM_001040429.2 981 aAt/aCt 0 -PRDM5 UCSF GRCh37 4 121698436 121698436 + missense_variant,splice_region_variant Missense_Mutation SNP T T C NOVEL P05_Pri Untested WXS Illumina HiSeq 56 10 68 0 ENST00000264808.3:c.1444A>G p.Thr482Ala p.T482A ENST00000264808 NM_018699.2 482 Aca/Gca 0 -PRR14 UCSF GRCh37 16 30664057 30664057 + missense_variant Missense_Mutation SNP T T A NOVEL P05_Pri Untested WXS Illumina HiSeq 11 5 44 0 ENST00000542965.2:c.208T>A p.Ser70Thr p.S70T ENST00000542965 70 Tca/Aca 0 -PZP UCSF GRCh37 12 9345272 9345272 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.00093 P05_Pri Untested WXS Illumina HiSeq 28 7 88 0 ENST00000261336.2:c.1318G>A p.Ala440Thr p.A440T ENST00000261336 NM_002864.2 440 Gct/Act 0 -SCN11A UCSF GRCh37 3 38888584 38888584 + synonymous_variant Silent SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 83 21 128 0 ENST00000302328.3:c.4977C>T p.Val1659= p.V1659= ENST00000302328 NM_014139.2 1659 gtC/gtT 0 -TSHZ3 UCSF GRCh37 19 31767507 31767507 + synonymous_variant Silent SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 43 18 58 0 ENST00000240587.4:c.3192C>T p.His1064= p.H1064= ENST00000240587 NM_020856.2 1064 caC/caT 0 -TSPEAR UCSF GRCh37 21 45945556 45945556 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 31 18 73 0 ENST00000323084.4:c.1316C>T p.Ala439Val p.A439V ENST00000323084 NM_001272037.1 439 gCg/gTg 0 -UNC13C UCSF GRCh37 15 54307971 54307971 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Pri Untested WXS Illumina HiSeq 19 12 39 0 ENST00000260323.11:c.2871A>C p.Glu957Asp p.E957D ENST00000260323 NM_001080534.1 957 gaA/gaC 0 -VIT UCSF GRCh37 2 37041424 37041424 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 23 4 71 0 ENST00000379242.3:c.2002G>A p.Glu668Lys p.E668K ENST00000379242 NM_053276.3 668 Gag/Aag 0 -ZFAND2B UCSF GRCh37 2 220072104 220072104 + synonymous_variant Silent SNP G G A NOVEL P05_Pri Untested WXS Illumina HiSeq 12 5 47 0 ENST00000289528.5:c.111G>A p.Val37= p.V37= ENST00000289528 NM_001270999.1 37 gtG/gtA 0 -ZNF485 UCSF GRCh37 10 44104090 44104090 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Pri Untested WXS Illumina HiSeq 28 12 58 2 ENST00000361807.3:c.53T>G p.Val18Gly p.V18G ENST00000361807 NM_145312.3 18 gTg/gGg 0 -A2M UCSF GRCh37 12 9264996 9264996 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 131 73 139 0 ENST00000318602.7:c.407C>T p.Ser136Leu p.S136L ENST00000318602 NM_000014.4 136 tCa/tTa 0 -A4GNT UCSF GRCh37 3 137849742 137849742 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 40 87 0 ENST00000236709.3:c.357G>A p.Leu119= p.L119= ENST00000236709 NM_016161.2 119 ttG/ttA 0 -AAMP UCSF GRCh37 2 219131667 219131667 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 63 68 0 ENST00000248450.4:c.437C>T p.Ser146Phe p.S146F ENST00000248450 146 tCc/tTc 0 -AANAT UCSF GRCh37 17 74464874 74464874 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 6 11 0 ENST00000250615.3:c.181C>T p.Leu61= p.L61= ENST00000250615 NM_001166579.1 61 Ctg/Ttg 0 -AARS UCSF GRCh37 16 70298924 70298924 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 25 34 0 ENST00000261772.8:c.1429G>A p.Gly477Ser p.G477S ENST00000261772 NM_001605.2 477 Ggt/Agt 0 -AASDH UCSF GRCh37 4 57204659 57204659 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 37 58 0 ENST00000205214.6:c.3206C>T p.Ser1069Phe p.S1069F ENST00000205214 NM_181806.2 1069 tCt/tTt 0 -AASS UCSF GRCh37 7 121773620 121773620 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 32 93 0 ENST00000393376.1:c.161G>A p.Gly54Glu p.G54E ENST00000393376 54 gGa/gAa 0 -ABCA1 UCSF GRCh37 9 107547804 107547804 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 72 50 72 0 ENST00000374736.3:c.6518G>A p.Arg2173Gln p.R2173Q ENST00000374736 NM_005502.3 2173 cGg/cAg 0 -ABCA12 UCSF GRCh37 2 215891637 215891637 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 163 108 103 0 ENST00000272895.7:c.1087G>A p.Asp363Asn p.D363N ENST00000272895 NM_173076.2 363 Gat/Aat 0 -ABCA13 UCSF GRCh37 7 48414007 48414007 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 123 48 102 0 ENST00000435803.1:c.11197G>A p.Glu3733Lys p.E3733K ENST00000435803 NM_152701.3 3733 Gag/Aag 0 -ABCA4 UCSF GRCh37 1 94546147 94546147 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 49 95 0 ENST00000370225.3:c.986G>A p.Gly329Glu p.G329E ENST00000370225 NM_000350.2 329 gGa/gAa 0 -ABCA9 UCSF GRCh37 17 66982360 66982360 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 29 61 0 ENST00000340001.4:c.4153G>A p.Val1385Met p.V1385M ENST00000340001 NM_080283.3 1385 Gtg/Atg 0 -ABCB4 UCSF GRCh37 7 87051535 87051535 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 7 44 0 ENST00000265723.4:c.2218G>A p.Gly740Arg p.G740R ENST00000265723 NM_000443.3 740 Gga/Aga 0 -ABCC12 UCSF GRCh37 16 48138152 48138152 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 206 78 126 0 ENST00000311303.3:c.2801T>G p.Phe934Cys p.F934C ENST00000311303 NM_033226.2 934 tTt/tGt 0 -ABCF3 UCSF GRCh37 3 183906749 183906749 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 33 56 0 ENST00000429586.2:c.950C>T p.Thr317Ile p.T317I ENST00000429586 NM_018358.2 317 aCc/aTc 0 -ABHD12 UCSF GRCh37 20 25304020 25304020 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 80 38 74 0 ENST00000376542.3:c.363T>C p.Gly121= p.G121= ENST00000376542 NM_015600.4 121 ggT/ggC 0 -ABHD16B UCSF GRCh37 20 62493648 62493648 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 15 9 0 ENST00000369916.3:c.755C>T p.Thr252Met p.T252M ENST00000369916 NM_080622.3 252 aCg/aTg 0 -ABHD6 UCSF GRCh37 3 58242354 58242354 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 132 36 66 0 ENST00000478253.1:c.41G>A p.Gly14Asp p.G14D ENST00000478253 14 gGc/gAc 0 -ABI3 UCSF GRCh37 17 47297537 47297537 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 5 12 0 ENST00000225941.1:c.651C>T p.Ala217= p.A217= ENST00000225941 NM_016428.2 217 gcC/gcT 0 -ACACB UCSF GRCh37 12 109679082 109679082 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 163 66 79 0 ENST00000338432.7:c.5018G>A p.Gly1673Glu p.G1673E ENST00000338432 1673 gGa/gAa 0 -ACACB UCSF GRCh37 12 109650679 109650679 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 128 37 84 0 ENST00000338432.7:c.3288G>A p.Gln1096= p.Q1096= ENST00000338432 1096 caG/caA 0 -ACAD10 UCSF GRCh37 12 112167638 112167638 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 14 49 0 ENST00000455480.2:c.1365C>T p.Thr455= p.T455= ENST00000455480 NM_001136538.1 455 acC/acT 0 -ACADVL UCSF GRCh37 17 7125571 7125571 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 41 86 0 ENST00000543245.2:c.897G>A p.Lys299= p.K299= ENST00000543245 NM_001270447.1 299 aaG/aaA 0 -ACAN UCSF GRCh37 15 89390536 89390536 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 12 10 0 ENST00000439576.2:c.1492C>T p.Gln498Ter p.Q498* ENST00000439576 NM_013227.3 498 Cag/Tag 0 -ACAN UCSF GRCh37 15 89395258 89395258 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 30 53 0 ENST00000439576.2:c.2260C>T p.Leu754= p.L754= ENST00000439576 NM_013227.3 754 Ctg/Ttg 0 -ACAN UCSF GRCh37 15 89416168 89416168 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 28 54 0 ENST00000439576.2:c.7245C>T p.Asp2415= p.D2415= ENST00000439576 NM_013227.3 2415 gaC/gaT 0 -ACCN3 UCSF GRCh37 7 150747871 150747871 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 95 24 26 0 ENST00000297512.8:c.840C>T p.Gly280= p.G280= ENST00000297512 280 ggC/ggT 0 -ACCN4 UCSF GRCh37 2 220379918 220379918 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 70 49 24 0 ENST00000347842.3:c.853C>T p.Pro285Ser p.P285S ENST00000347842 NM_182847.2 285 Cca/Tca 0 -ACE2 UCSF GRCh37 X 15599355 15599355 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 39 74 146 0 ENST00000427411.1:c.1059G>A p.Lys353= p.K353= ENST00000427411 NM_021804.2 353 aaG/aaA 0 -ACO2 UCSF GRCh37 22 41903918 41903918 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 17 32 22 0 ENST00000216254.4:c.297G>A p.Gln99= p.Q99= ENST00000216254 NM_001098.2 99 caG/caA 0 -ACOT12 UCSF GRCh37 5 80626242 80626242 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 21 71 0 ENST00000307624.3:c.1639C>T p.Pro547Ser p.P547S ENST00000307624 NM_130767.2 547 Cct/Tct 0 -ACP6 UCSF GRCh37 1 147126370 147126370 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 37 76 0 ENST00000369238.6:c.719G>A p.Gly240Asp p.G240D ENST00000369238 NM_016361.4 240 gGc/gAc 0 -ACSL6 UCSF GRCh37 5 131323748 131323748 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 59 120 0 ENST00000379264.2:c.824C>T p.Ala275Val p.A275V ENST00000379264 NM_001009185.2 275 gCc/gTc 0 -ACTN4 UCSF GRCh37 19 39218666 39218666 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 24 22 10 0 ENST00000252699.2:c.2418G>A p.Gln806= p.Q806= ENST00000252699 NM_004924.4 806 caG/caA 0 -ACTR1B UCSF GRCh37 2 98275454 98275454 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 137 64 71 0 ENST00000289228.5:c.328C>T p.Leu110Phe p.L110F ENST00000289228 NM_005735.3 110 Ctc/Ttc 0 -ACTR3B UCSF GRCh37 7 152497666 152497666 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 266 87 208 0 ENST00000256001.8:c.151G>A p.Val51Met p.V51M ENST00000256001 NM_020445.5 51 Gtg/Atg 0 -ACVR2A UCSF GRCh37 2 148657339 148657339 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 177 104 251 0 ENST00000241416.7:c.400C>T p.Pro134Ser p.P134S ENST00000241416 NM_001616.4 134 Cca/Tca 0 -ACVR2B UCSF GRCh37 3 38523998 38523998 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 7 19 0 ENST00000352511.4:c.1291G>A p.Val431Met p.V431M ENST00000352511 NM_001106.3 431 Gtg/Atg 0 -ADAM22 UCSF GRCh37 7 87762229 87762229 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 19 46 0 ENST00000265727.7:c.1040G>A p.Gly347Glu p.G347E ENST00000265727 347 gGg/gAg 0 -ADAM23 UCSF GRCh37 2 207426926 207426926 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 199 124 201 0 ENST00000264377.3:c.1255-1G>A p.X419_splice ENST00000264377 NM_003812.3 0 -ADAMTS12 UCSF GRCh37 5 33561169 33561169 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 60 84 0 ENST00000504830.1:c.4088G>A p.Arg1363His p.R1363H ENST00000504830 NM_030955.2 1363 cGt/cAt 0 -ADAMTS14 UCSF GRCh37 10 72520286 72520286 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 38 41 0 ENST00000373208.1:c.3358C>T p.Pro1120Ser p.P1120S ENST00000373208 NM_139155.2 1120 Cct/Tct 0 -ADAMTS9 UCSF GRCh37 3 64666961 64666961 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 20 37 0 ENST00000498707.1:c.595G>A p.Glu199Lys p.E199K ENST00000498707 NM_182920.1 199 Gaa/Aaa 0 -ADAMTSL3 UCSF GRCh37 15 84611718 84611718 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 33 32 0 ENST00000286744.5:c.2374G>A p.Asp792Asn p.D792N ENST00000286744 NM_207517.2 792 Gat/Aat 0 -ADCY10 UCSF GRCh37 1 167815414 167815414 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 61 109 0 ENST00000367851.4:c.2525C>T p.Thr842Ile p.T842I ENST00000367851 NM_018417.4 842 aCt/aTt 0 -ADCY2 UCSF GRCh37 5 7717290 7717290 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 32 47 0 ENST00000338316.4:c.1643G>A p.Arg548Lys p.R548K ENST00000338316 NM_020546.2 548 aGa/aAa 0 -ADCY7 UCSF GRCh37 16 50348926 50348926 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 139 136 104 0 ENST00000394697.2:c.2973C>T p.Gly991= p.G991= ENST00000394697 991 ggC/ggT 0 -ADD2 UCSF GRCh37 2 70904949 70904949 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 47 58 0 ENST00000264436.4:c.1444C>T p.Pro482Ser p.P482S ENST00000264436 NM_001617.3 482 Cca/Tca 0 -ADORA1 UCSF GRCh37 1 203134985 203134985 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 40 53 0 ENST00000367236.4:c.938C>T p.Pro313Leu p.P313L ENST00000367236 NM_001048230.1 313 cCt/cTt 0 -ADRA2B UCSF GRCh37 2 96781752 96781752 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 21 8 0 ENST00000409345.3:c.137C>T p.Pro46Leu p.P46L ENST00000409345 NM_000682.5 46 cCt/cTt 0 -AEBP1 UCSF GRCh37 7 44149871 44149871 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 22 35 0 ENST00000223357.3:c.1326G>A p.Gln442= p.Q442= ENST00000223357 NM_001129.4 442 caG/caA 0 -AFF3 UCSF GRCh37 2 100210059 100210059 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 136 88 43 0 ENST00000356421.2:c.2139C>T p.Tyr713= p.Y713= ENST00000356421 NM_001025108.1 713 taC/taT 0 -AGAP11 UCSF GRCh37 10 88768200 88768200 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 115 270 1 ENST00000433214.2:n.1395G>A *465* ENST00000433214 0 -AGBL2 UCSF GRCh37 11 47707481 47707481 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 53 139 0 ENST00000525123.1:c.1752C>T p.Val584= p.V584= ENST00000525123 NM_024783.3 584 gtC/gtT 0 -AGK UCSF GRCh37 7 141352686 141352686 + splice_region_variant,intron_variant,non_coding_transcript_variant Splice_Region SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 171 57 74 0 ENST00000467537.1:n.268-3T>G p.X90_splice ENST00000467537 0 -AGL UCSF GRCh37 1 100316681 100316681 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 52 71 0 ENST00000294724.4:c.82+1G>A p.X28_splice ENST00000294724 NM_000028.2 0 -AGPAT2 UCSF GRCh37 9 139571054 139571054 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 30 20 0 ENST00000371696.2:c.571C>T p.Leu191= p.L191= ENST00000371696 NM_006412.3 191 Ctg/Ttg 0 -AHRR UCSF GRCh37 5 434260 434260 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 34 24 0 ENST00000316418.5:c.1471C>T p.Arg491Trp p.R491W ENST00000316418 NM_020731.4 491 Cgg/Tgg 0 -AHRR UCSF GRCh37 5 427752 427752 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 100 51 33 0 ENST00000316418.5:c.721G>A p.Ala241Thr p.A241T ENST00000316418 NM_020731.4 241 Gcc/Acc 0 -AHSA1 UCSF GRCh37 14 77929093 77929093 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 29 66 0 ENST00000216479.3:c.463C>T p.Leu155Phe p.L155F ENST00000216479 NM_012111.2 155 Ctc/Ttc 0 -AIFM1 UCSF GRCh37 X 129281803 129281803 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 76 155 0 ENST00000287295.3:c.398C>T p.Pro133Leu p.P133L ENST00000287295 NM_004208.3 133 cCt/cTt 0 -AIPL1 UCSF GRCh37 17 6329947 6329947 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 23 18 0 ENST00000381129.3:c.772C>T p.Arg258Trp p.R258W ENST00000381129 NM_014336.3 258 Cgg/Tgg 0 -AIPL1 UCSF GRCh37 17 6329972 6329972 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 32 21 0 ENST00000381129.3:c.747G>A p.Val249= p.V249= ENST00000381129 NM_014336.3 249 gtG/gtA 0 -AK7 UCSF GRCh37 14 96953269 96953269 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 14 42 0 ENST00000267584.4:c.2009G>A p.Arg670Lys p.R670K ENST00000267584 NM_152327.3 670 aGa/aAa 0 -AKAP8 UCSF GRCh37 19 15483797 15483797 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 29 19 11 0 ENST00000269701.2:c.726G>A p.Arg242= p.R242= ENST00000269701 NM_005858.3 242 cgG/cgA 0 -AKD1 UCSF GRCh37 6 109835578 109835578 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 35 94 0 ENST00000424296.2:c.4128C>T p.Ile1376= p.I1376= ENST00000424296 NM_001145128.2 1376 atC/atT 0 -AKNA UCSF GRCh37 9 117119143 117119143 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 48 54 0 ENST00000307564.4:c.2846G>A p.Ser949Asn p.S949N ENST00000307564 NM_030767.4 949 aGc/aAc 0 -AKNAD1 UCSF GRCh37 1 109395078 109395078 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 80 88 0 ENST00000370001.3:c.209C>T p.Thr70Ile p.T70I ENST00000370001 NM_152763.4 70 aCc/aTc 0 -AKNAD1 UCSF GRCh37 1 109385874 109385874 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 44 54 0 ENST00000370001.3:c.1261C>T p.Gln421Ter p.Q421* ENST00000370001 NM_152763.4 421 Cag/Tag 0 -ALCAM UCSF GRCh37 3 105260490 105260490 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 17 60 0 ENST00000306107.5:c.872G>A p.Gly291Glu p.G291E ENST00000306107 NM_001627.3 291 gGa/gAa 0 -ALDH4A1 UCSF GRCh37 1 19202840 19202840 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 61 31 31 0 ENST00000375341.3:c.1307G>A p.Ser436Asn p.S436N ENST00000375341 NM_003748.3 436 aGc/aAc 0 -ALDH4A1 UCSF GRCh37 1 19204034 19204034 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 24 19 9 0 ENST00000375341.3:c.1013G>A p.Arg338His p.R338H ENST00000375341 NM_003748.3 338 cGc/cAc 0 -ALG11 UCSF GRCh37 13 52598626 52598626 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 70 93 0 ENST00000521508.1:c.760G>A p.Val254Ile p.V254I ENST00000521508 NM_001004127.2 254 Gtc/Atc 0 -ALKBH3 UCSF GRCh37 11 43904246 43904246 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 8 26 36 0 ENST00000302708.4:c.44C>T p.Ala15Val p.A15V ENST00000302708 NM_139178.3 15 gCt/gTt 0 -ALMS1 UCSF GRCh37 2 73675096 73675096 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 20 38 66 0 ENST00000264448.6:c.1439C>T p.Thr480Ile p.T480I ENST00000264448 NM_015120.4 480 aCt/aTt 0 -ALOX15B UCSF GRCh37 17 7948887 7948887 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 25 35 0 ENST00000380183.4:c.1083C>T p.Arg361= p.R361= ENST00000380183 NM_001141.2 361 cgC/cgT 0 -ALOXE3 UCSF GRCh37 17 8020099 8020099 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 20 42 0 ENST00000318227.3:c.743G>A p.Gly248Glu p.G248E ENST00000318227 NM_001165960.1 248 gGa/gAa 0 -ALOXE3 UCSF GRCh37 17 8014809 8014809 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 27 71 0 ENST00000318227.3:c.1221G>A p.Gly407= p.G407= ENST00000318227 NM_001165960.1 407 ggG/ggA 0 -ALPPL2 UCSF GRCh37 2 233274294 233274294 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 9 12 12 0 ENST00000295453.3:c.1311G>A p.Glu437= p.E437= ENST00000295453 NM_031313.2 437 gaG/gaA 0 -ALS2CR11 UCSF GRCh37 2 202359129 202359129 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 167 92 170 0 ENST00000439140.1:c.1935G>A p.Arg645= p.R645= ENST00000439140 NM_001168221.1 645 agG/agA 0 -ALS2CR11 UCSF GRCh37 2 202359204 202359204 + synonymous_variant Silent SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 142 69 145 0 ENST00000439140.1:c.1860T>G p.Gly620= p.G620= ENST00000439140 NM_001168221.1 620 ggT/ggG 0 -AMOTL2 UCSF GRCh37 3 134089737 134089737 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 18 23 0 ENST00000249883.5:c.539C>T p.Ser180Phe p.S180F ENST00000249883 NM_016201.3 180 tCc/tTc 0 -AMY2B UCSF GRCh37 1 104115845 104115845 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 217 135 218 0 ENST00000361355.4:c.476G>A p.Gly159Glu p.G159E ENST00000361355 NM_020978.4 159 gGa/gAa 0 -ANAPC5 UCSF GRCh37 12 121746438 121746438 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 108 40 109 0 ENST00000261819.3:c.2113G>A p.Asp705Asn p.D705N ENST00000261819 NM_016237.4 705 Gac/Aac 0 -ANK2 UCSF GRCh37 4 114294449 114294449 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 38 110 0 ENST00000357077.4:c.11703G>A p.Arg3901= p.R3901= ENST00000357077 NM_001148.4 3901 agG/agA 0 -ANKFY1 UCSF GRCh37 17 4074130 4074130 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 22 34 0 ENST00000570535.1:c.3291G>A p.Gly1097= p.G1097= ENST00000570535 NM_001257999.1 1097 ggG/ggA 0 -ANKHD1 UCSF GRCh37 5 139908515 139908515 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 73 127 0 ENST00000297183.6:c.5984C>T p.Thr1995Ile p.T1995I ENST00000297183 NM_020690.5 1995 aCt/aTt 0 -ANKLE2 UCSF GRCh37 12 133324426 133324426 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 47 59 0 ENST00000357997.5:c.1222G>A p.Asp408Asn p.D408N ENST00000357997 NM_015114.1 408 Gac/Aac 0 -ANKRD1 UCSF GRCh37 10 92680047 92680047 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 82 157 0 ENST00000371697.3:c.86G>A p.Arg29Lys p.R29K ENST00000371697 NM_014391.2 29 aGa/aAa 0 -ANKRD11 UCSF GRCh37 16 89351166 89351166 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 108 42 59 0 ENST00000301030.4:c.1784G>A p.Arg595Lys p.R595K ENST00000301030 NM_001256183.1 595 aGg/aAg 0 -ANKRD11 UCSF GRCh37 16 89347886 89347886 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 255 96 39 0 ENST00000301030.4:c.5064C>T p.Val1688= p.V1688= ENST00000301030 NM_001256183.1 1688 gtC/gtT 0 -ANKRD11 UCSF GRCh37 16 89371699 89371699 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 112 29 20 0 ENST00000301030.4:c.141C>T p.Gly47= p.G47= ENST00000301030 NM_001256183.1 47 ggC/ggT 0 -ANKRD11 UCSF GRCh37 16 89341222 89341222 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 130 46 40 0 ENST00000301030.4:c.7713G>A p.Gln2571= p.Q2571= ENST00000301030 NM_001256183.1 2571 caG/caA 0 -ANKRD13A UCSF GRCh37 12 110456212 110456212 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 40 51 0 ENST00000261739.4:c.463C>T p.Leu155= p.L155= ENST00000261739 NM_033121.1 155 Ctg/Ttg 0 -ANKRD24 UCSF GRCh37 19 4216973 4216973 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 34 29 0 ENST00000600132.1:c.1816G>A p.Val606Ile p.V606I ENST00000600132 NM_133475.1 606 Gtc/Atc 0 -ANKRD46 UCSF GRCh37 8 101540115 101540115 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 33 75 0 ENST00000520552.1:c.428C>T p.Thr143Ile p.T143I ENST00000520552 NM_001270379.1 143 aCc/aTc 0 -ANKRD6 UCSF GRCh37 6 90333154 90333154 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 19 12 27 0 ENST00000522441.1:c.923C>T p.Pro308Leu p.P308L ENST00000522441 NM_001242811.1 308 cCc/cTc 0 -ANLN UCSF GRCh37 7 36455449 36455449 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 195 70 100 0 ENST00000265748.2:c.1478C>T p.Thr493Ile p.T493I ENST00000265748 NM_018685.2 493 aCc/aTc 0 -ANO10 UCSF GRCh37 3 43647213 43647213 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P05_Rec Untested WXS Illumina HiSeq 10 0 ENST00000292246.3:c.132delA p.Asp45MetfsTer12 p.D45Mfs*12 ENST00000292246 NM_018075.3 44 aaA/aa 0 -ANO2 UCSF GRCh37 12 5963241 5963241 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 143 76 141 0 ENST00000327087.8:c.589G>A p.Glu197Lys p.E197K ENST00000327087 NM_001278596.1 197 Gaa/Aaa 0 -AOC3 UCSF GRCh37 17 41006513 41006513 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 22 30 0 ENST00000308423.2:c.1649C>T p.Ala550Val p.A550V ENST00000308423 NM_003734.3 550 gCt/gTt 0 -AP1AR UCSF GRCh37 4 113186173 113186173 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 108 55 94 0 ENST00000274000.5:c.390G>A p.Arg130= p.R130= ENST00000274000 NM_018569.4 130 agG/agA 0 -AP1M1 UCSF GRCh37 19 16314331 16314331 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 32 40 0 ENST00000444449.2:c.104C>T p.Pro35Leu p.P35L ENST00000444449 NM_001130524.1 35 cCc/cTc 0 -APCDD1 UCSF GRCh37 18 10485656 10485656 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 32 45 0 ENST00000355285.5:c.972C>T p.Gly324= p.G324= ENST00000355285 NM_153000.4 324 ggC/ggT 0 -APCDD1L UCSF GRCh37 20 57042262 57042262 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 15 12 0 ENST00000371149.3:c.641G>A p.Arg214Gln p.R214Q ENST00000371149 NM_153360.1 214 cGg/cAg 0 -APEX2 UCSF GRCh37 X 55033194 55033194 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 51 20 30 0 ENST00000374987.3:c.883C>T p.Leu295= p.L295= ENST00000374987 NM_014481.3 295 Ctg/Ttg 0 -APOA2 UCSF GRCh37 1 161192746 161192746 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 32 63 0 ENST00000367990.3:c.147G>A p.Met49Ile p.M49I ENST00000367990 NM_001643.1 49 atG/atA 0 -APOB UCSF GRCh37 2 21232717 21232717 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 58 119 0 ENST00000233242.1:c.7023C>T p.Val2341= p.V2341= ENST00000233242 NM_000384.2 2341 gtC/gtT 0 -APOC3 UCSF GRCh37 11 116701560 116701560 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 28 11 14 0 ENST00000227667.3:c.127G>A p.Ala43Thr p.A43T ENST00000227667 NM_000040.1 43 Gcc/Acc 0 -APOF UCSF GRCh37 12 56755627 56755627 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 41 71 0 ENST00000398189.3:c.363G>A p.Gln121= p.Q121= ENST00000398189 NM_001638.2 121 caG/caA 0 -APOL2 UCSF GRCh37 22 36624040 36624040 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 22 65 0 ENST00000249066.6:c.424G>A p.Glu142Lys p.E142K ENST00000249066 NM_145637.1 142 Gaa/Aaa 0 -APOL5 UCSF GRCh37 22 36123218 36123218 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 30 41 0 ENST00000249044.2:c.1103G>A p.Gly368Glu p.G368E ENST00000249044 NM_030642.1 368 gGa/gAa 0 -APTX UCSF GRCh37 9 32987663 32987663 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 118 59 128 0 ENST00000379813.3:c.362G>A p.Ser121Asn p.S121N ENST00000379813 121 aGt/aAt 0 -AQP12B UCSF GRCh37 2 241622083 241622083 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 12 48 23 0 ENST00000407834.3:c.172G>A p.Val58Ile p.V58I ENST00000407834 NM_001102467.1 58 Gtc/Atc 0 -AR UCSF GRCh37 X 66863097 66863097 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 34 65 0 ENST00000374690.3:c.1617-1G>A p.X539_splice ENST00000374690 NM_000044.3 0 -ARAP1 UCSF GRCh37 11 72415292 72415292 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 37 9 0 ENST00000393609.3:c.1897C>T p.Pro633Ser p.P633S ENST00000393609 NM_001040118.2 633 Ccc/Tcc 0 -ARAP3 UCSF GRCh37 5 141033718 141033718 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 7 17 38 0 ENST00000239440.4:c.4434G>A p.Arg1478= p.R1478= ENST00000239440 NM_022481.5 1478 cgG/cgA 0 -ARC UCSF GRCh37 8 143694837 143694837 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 97 38 37 0 ENST00000356613.2:c.796G>A p.Glu266Lys p.E266K ENST00000356613 NM_015193.4 266 Gag/Aag 0 -ARFGEF1 UCSF GRCh37 8 68179357 68179357 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 42 77 0 ENST00000262215.3:c.1781G>A p.Gly594Asp p.G594D ENST00000262215 NM_006421.4 594 gGc/gAc 0 -ARGLU1 UCSF GRCh37 13 107211856 107211856 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 146 28 168 0 ENST00000400198.3:c.497G>A p.Arg166His p.R166H ENST00000400198 NM_018011.3 166 cGc/cAc 0 -ARHGAP20 UCSF GRCh37 11 110450171 110450171 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 98 60 95 0 ENST00000260283.4:c.3499G>A p.Glu1167Lys p.E1167K ENST00000260283 NM_020809.3 1167 Gag/Aag 0 -ARHGAP20 UCSF GRCh37 11 110453055 110453055 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 142 75 125 0 ENST00000260283.4:c.1710G>A p.Glu570= p.E570= ENST00000260283 NM_020809.3 570 gaG/gaA 0 -ARHGEF10L UCSF GRCh37 1 17948377 17948377 + missense_variant Missense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 59 48 30 0 ENST00000361221.3:c.961C>G p.Leu321Val p.L321V ENST00000361221 NM_018125.3 321 Ctg/Gtg 0 -ARHGEF15 UCSF GRCh37 17 8219385 8219385 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 14 14 0 ENST00000361926.3:c.1623C>T p.Leu541= p.L541= ENST00000361926 NM_173728.3 541 ctC/ctT 0 -ARHGEF18 UCSF GRCh37 19 7535023 7535023 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 55 46 0 ENST00000359920.6:c.3361C>T p.Pro1121Ser p.P1121S ENST00000359920 NM_001130955.1 1121 Ccc/Tcc 0 -ARHGEF2 UCSF GRCh37 1 155935434 155935434 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 46 49 0 ENST00000361247.4:c.458C>T p.Thr153Ile p.T153I ENST00000361247 NM_001162384.1 153 aCc/aTc 0 -ARHGEF25 UCSF GRCh37 12 58008323 58008323 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 32 50 0 ENST00000333972.7:c.868G>A p.Val290Met p.V290M ENST00000333972 NM_001111270.2 290 Gtg/Atg 0 -ARHGEF40 UCSF GRCh37 14 21542414 21542414 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 37 47 0 ENST00000298694.4:c.525G>A p.Arg175= p.R175= ENST00000298694 NM_001278529.1 175 cgG/cgA 0 -ARID1A UCSF GRCh37 1 27092831 27092831 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 42 70 0 ENST00000324856.7:c.2852G>A p.Gly951Asp p.G951D ENST00000324856 NM_006015.4 951 gGt/gAt 0 -ARID1B UCSF GRCh37 6 157522031 157522031 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 70 47 27 0 ENST00000346085.5:c.4303C>T p.Pro1435Ser p.P1435S ENST00000346085 NM_020732.3 1435 Ccg/Tcg 0 -ARL4A UCSF GRCh37 7 12728105 12728105 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 99 67 154 0 ENST00000396663.1:c.226G>A p.Val76Ile p.V76I ENST00000396663 NM_005738.4 76 Gta/Ata 0 -ARL6 UCSF GRCh37 3 97499033 97499033 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 49 44 0 ENST00000463745.1:c.154G>A p.Gly52Arg p.G52R ENST00000463745 NM_001278293.1 52 Gga/Aga 0 -ARMC4 UCSF GRCh37 10 28225673 28225673 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 112 61 152 1 ENST00000305242.5:c.2234G>A p.Ser745Asn p.S745N ENST00000305242 NM_018076.2 745 aGc/aAc 0 -ARMCX5 UCSF GRCh37 X 101857642 101857642 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 82 136 0 ENST00000604957.1:c.573G>A p.Glu191= p.E191= ENST00000604957 NM_001168478.1 191 gaG/gaA 0 -ARNT UCSF GRCh37 1 150814899 150814899 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 25 83 0 ENST00000358595.5:c.272+1G>A p.X91_splice ENST00000358595 NM_178427.2 0 -ARPP21 UCSF GRCh37 3 35748507 35748507 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 21 65 0 ENST00000458225.1:c.728G>A p.Gly243Asp p.G243D ENST00000458225 243 gGt/gAt 0 -ARRDC5 UCSF GRCh37 19 4902759 4902759 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 124 60 124 0 ENST00000381781.2:c.121G>A p.Val41Met p.V41M ENST00000381781 NM_001080523.1 41 Gtg/Atg 0 -ARRDC5 UCSF GRCh37 19 4891544 4891544 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 119 68 77 0 ENST00000381781.2:c.543C>T p.Asn181= p.N181= ENST00000381781 NM_001080523.1 181 aaC/aaT 0 -ARSH UCSF GRCh37 X 2942141 2942141 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 11 22 27 0 ENST00000381130.2:c.981C>T p.His327= p.H327= ENST00000381130 NM_001011719.1 327 caC/caT 0 -ASAH1 UCSF GRCh37 8 17915063 17915063 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 14 23 0 ENST00000381733.4:c.1216G>A p.Asp406Asn p.D406N ENST00000381733 NM_004315.4 406 Gac/Aac 0 -ASB6 UCSF GRCh37 9 132400594 132400594 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 37 30 0 ENST00000277458.4:c.741G>A p.Leu247= p.L247= ENST00000277458 NM_017873.3 247 ctG/ctA 0 -ASCC2 UCSF GRCh37 22 30210654 30210654 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 21 33 0 ENST00000397771.2:c.712C>T p.Pro238Ser p.P238S ENST00000397771 238 Cct/Tct 0 -ASPH UCSF GRCh37 8 62430118 62430118 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 68 39 62 0 ENST00000379454.4:c.2095G>A p.Gly699Ser p.G699S ENST00000379454 NM_004318.3 699 Ggc/Agc 0 -ASPHD2 UCSF GRCh37 22 26830109 26830109 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 34 39 0 ENST00000215906.5:c.528G>A p.Thr176= p.T176= ENST00000215906 NM_020437.4 176 acG/acA 0 -ASPM UCSF GRCh37 1 197072633 197072633 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 64 117 0 ENST00000367409.4:c.5748G>A p.Gln1916= p.Q1916= ENST00000367409 NM_018136.4 1916 caG/caA 0 -ASXL1 UCSF GRCh37 20 31021696 31021696 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 137 85 86 0 ENST00000375687.4:c.1695G>A p.Glu565= p.E565= ENST00000375687 NM_015338.5 565 gaG/gaA 0 -ATF7 UCSF GRCh37 12 53931335 53931335 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 94 60 159 0 ENST00000420353.2:c.266C>T p.Ala89Val p.A89V ENST00000420353 NM_006856.2 89 gCt/gTt 0 -ATG13 UCSF GRCh37 11 46690417 46690417 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 21 28 57 0 ENST00000528494.1:c.1403G>A p.Gly468Asp p.G468D ENST00000528494 NM_001205119.1 468 gGc/gAc 0 -ATG2A UCSF GRCh37 11 64677367 64677367 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 29 10 0 ENST00000377264.3:c.1893G>A p.Gln631= p.Q631= ENST00000377264 NM_015104.2 631 caG/caA 0 -ATM UCSF GRCh37 11 108155178 108155178 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 57 33 0 ENST00000278616.4:c.3971G>A p.Ser1324Asn p.S1324N ENST00000278616 NM_000051.3 1324 aGt/aAt 0 -ATN1 UCSF GRCh37 12 7045938 7045939 + protein_altering_variant In_Frame_Ins INS - - AGCAGCAGC NOVEL P05_Rec Untested WXS Illumina HiSeq 7 0 ENST00000356654.4:c.1508_1509insAGCAGCAGC p.His503delinsGlnAlaAlaAla p.H503delinsQAAA ENST00000356654 NM_001007026.1 503 cat/caAGCAGCAGCt 0 -ATP11A UCSF GRCh37 13 113512565 113512565 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 19 44 55 0 ENST00000487903.1:c.2628C>T p.Tyr876= p.Y876= ENST00000487903 876 taC/taT 0 -ATP13A4 UCSF GRCh37 3 193183851 193183851 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 145 69 145 0 ENST00000342695.4:c.1235G>A p.Gly412Glu p.G412E ENST00000342695 NM_032279.2 412 gGg/gAg 0 -ATP13A4 UCSF GRCh37 3 193166011 193166011 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 30 80 0 ENST00000342695.4:c.2136G>A p.Arg712= p.R712= ENST00000342695 NM_032279.2 712 agG/agA 0 -ATP1A2 UCSF GRCh37 1 160094966 160094966 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 30 43 0 ENST00000361216.3:c.671C>T p.Thr224Ile p.T224I ENST00000361216 NM_000702.3 224 aCc/aTc 0 -ATP1B4 UCSF GRCh37 X 119500574 119500574 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 49 63 0 ENST00000218008.3:c.258G>A p.Leu86= p.L86= ENST00000218008 NM_001142447.2 86 ttG/ttA 0 -ATP2A1 UCSF GRCh37 16 28912191 28912191 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 39 46 0 ENST00000357084.3:c.2054C>T p.Ser685Phe p.S685F ENST00000357084 NM_173201.3 685 tCc/tTc 0 -ATP2B1 UCSF GRCh37 12 89984838 89984838 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 66 117 0 ENST00000428670.3:c.3586C>T p.Leu1196Phe p.L1196F ENST00000428670 1196 Ctt/Ttt 0 -ATP2B2 UCSF GRCh37 3 10382388 10382388 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 95 37 37 0 ENST00000360273.2:c.2918G>A p.Gly973Asp p.G973D ENST00000360273 NM_001001331.2 973 gGc/gAc 0 -ATP2B4 UCSF GRCh37 1 203668793 203668793 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 136 80 118 0 ENST00000357681.5:c.597C>T p.Ile199= p.I199= ENST00000357681 NM_001684.4 199 atC/atT 0 -ATP5J2-PTCD1 UCSF GRCh37 7 99032460 99032460 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 242 61 111 0 ENST00000413834.1:c.553C>T p.Pro185Ser p.P185S ENST00000413834 185 Ccg/Tcg 0 -ATP7B UCSF GRCh37 13 52544773 52544773 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 28 61 83 0 ENST00000242839.4:c.1398C>T p.Leu466= p.L466= ENST00000242839 NM_000053.3 466 ctC/ctT 0 -ATP8B4 UCSF GRCh37 15 50288947 50288947 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 40 22 26 0 ENST00000284509.6:c.516C>T p.Asn172= p.N172= ENST00000284509 NM_024837.3 172 aaC/aaT 0 -ATP9A UCSF GRCh37 20 50273508 50273508 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 29 21 23 0 ENST00000338821.5:c.1475G>A p.Cys492Tyr p.C492Y ENST00000338821 NM_006045.1 492 tGc/tAc 0 -ATRN UCSF GRCh37 20 3624813 3624813 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 53 106 0 ENST00000262919.5:c.4063C>T p.Pro1355Ser p.P1355S ENST00000262919 NM_139321.2 1355 Ccc/Tcc 0 -ATRX UCSF GRCh37 X 76875979 76875979 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 49 48 54 0 ENST00000373344.5:c.5156A>G p.Asp1719Gly p.D1719G ENST00000373344 NM_000489.3 1719 gAt/gGt 0 -ATXN3L UCSF GRCh37 X 13338003 13338003 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 94 192 0 ENST00000380622.2:c.51C>T p.His17= p.H17= ENST00000380622 NM_001135995.1 17 caC/caT 0 -ATXN7L2 UCSF GRCh37 1 110033657 110033657 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 65 40 0 ENST00000369870.3:c.1472G>A p.Arg491Lys p.R491K ENST00000369870 NM_153340.4 491 aGa/aAa 0 -ATXN7L2 UCSF GRCh37 1 110031543 110031543 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 49 51 0 ENST00000369870.3:c.858G>A p.Lys286= p.K286= ENST00000369870 NM_153340.4 286 aaG/aaA 0 -AUH UCSF GRCh37 9 93979608 93979608 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 14 48 0 ENST00000375731.4:c.845G>A p.Gly282Glu p.G282E ENST00000375731 NM_001698.2 282 gGa/gAa 0 -AUTS2 UCSF GRCh37 7 70254767 70254767 + synonymous_variant Silent SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 96 51 70 0 ENST00000342771.4:c.2565T>C p.Pro855= p.P855= ENST00000342771 NM_015570.2 855 ccT/ccC 0 -AVL9 UCSF GRCh37 7 32584392 32584392 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 9 28 0 ENST00000318709.4:c.300+1G>A p.X100_splice ENST00000318709 NM_015060.1 0 -AVL9 UCSF GRCh37 7 32598240 32598240 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 26 62 0 ENST00000318709.4:c.679G>A p.Gly227Ser p.G227S ENST00000318709 NM_015060.1 227 Ggc/Agc 0 -AXIN1 UCSF GRCh37 16 343703 343703 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 23 44 0 ENST00000262320.3:c.1971G>A p.Arg657= p.R657= ENST00000262320 NM_003502.3 657 agG/agA 0 -AZI1 UCSF GRCh37 17 79164773 79164773 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 80 43 28 0 ENST00000450824.2:c.2877G>A p.Glu959= p.E959= ENST00000450824 959 gaG/gaA 0 -AZI1 UCSF GRCh37 17 79193782 79193782 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 38 34 0 ENST00000450824.2:c.75C>T p.Leu25= p.L25= ENST00000450824 25 ctC/ctT 0 -B3GALT4 UCSF GRCh37 6 33246072 33246072 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 98 46 53 0 ENST00000451237.1:c.876C>T p.Val292= p.V292= ENST00000451237 NM_003782.3 292 gtC/gtT 0 -B4GALT4 UCSF GRCh37 3 118945752 118945752 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 12 39 0 ENST00000483209.1:c.390C>T p.His130= p.H130= ENST00000483209 130 caC/caT 0 -BACE1 UCSF GRCh37 11 117165989 117165989 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 36 53 0 ENST00000313005.6:c.425G>A p.Gly142Asp p.G142D ENST00000313005 NM_138971.3 142 gGc/gAc 0 -BAD UCSF GRCh37 11 64051683 64051683 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 65 58 25 0 ENST00000394532.3:c.158A>G p.Glu53Gly p.E53G ENST00000394532 NM_004322.3 53 gAg/gGg 0 -BAG3 UCSF GRCh37 10 121436297 121436297 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 34 67 0 ENST00000369085.3:c.1231G>A p.Gly411Arg p.G411R ENST00000369085 NM_004281.3 411 Gga/Aga 0 -BAHCC1 UCSF GRCh37 17 79426522 79426522 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 67 30 30 0 ENST00000307745.7:c.5797G>A p.Val1933Ile p.V1933I ENST00000307745 1933 Gtt/Att 0 -BAI3 UCSF GRCh37 6 69640470 69640470 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 25 17 24 0 ENST00000370598.1:c.777T>G p.Asp259Glu p.D259E ENST00000370598 NM_001704.2 259 gaT/gaG 0 -BAIAP2L1 UCSF GRCh37 7 97946557 97946557 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 216 74 147 0 ENST00000005260.8:c.460C>T p.Leu154Phe p.L154F ENST00000005260 NM_018842.4 154 Ctc/Ttc 0 -BAZ1B UCSF GRCh37 7 72892854 72892854 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 27 48 0 ENST00000339594.4:c.937C>T p.Pro313Ser p.P313S ENST00000339594 NM_032408.3 313 Cca/Tca 0 -BAZ2B UCSF GRCh37 2 160205734 160205734 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 22 41 0 ENST00000392783.2:c.4921G>A p.Val1641Ile p.V1641I ENST00000392783 NM_013450.2 1641 Gtt/Att 0 -BAZ2B UCSF GRCh37 2 160295520 160295520 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 113 62 97 0 ENST00000392783.2:c.900G>A p.Gln300= p.Q300= ENST00000392783 NM_013450.2 300 caG/caA 0 -BBS10 UCSF GRCh37 12 76741297 76741297 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 31 47 0 ENST00000393262.3:c.468C>T p.Ile156= p.I156= ENST00000393262 NM_024685.3 156 atC/atT 0 -BCAM UCSF GRCh37 19 45314506 45314506 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 39 59 0 ENST00000270233.6:c.107C>T p.Ser36Phe p.S36F ENST00000270233 NM_005581.4 36 tCt/tTt 0 -BCL11A UCSF GRCh37 2 60688616 60688616 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 24 25 15 0 ENST00000335712.6:c.1431C>T p.Asn477= p.N477= ENST00000335712 NM_022893.3 477 aaC/aaT 0 -BCL7C UCSF GRCh37 16 30905182 30905182 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 13 13 0 ENST00000215115.4:c.84C>T p.Val28= p.V28= ENST00000215115 NM_004765.2 28 gtC/gtT 0 -BCL9 UCSF GRCh37 1 147091456 147091456 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 53 60 0 ENST00000234739.3:c.1495G>A p.Asp499Asn p.D499N ENST00000234739 NM_004326.3 499 Gac/Aac 0 -BCMO1 UCSF GRCh37 16 81301516 81301516 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 24 31 0 ENST00000258168.2:c.623G>A p.Gly208Asp p.G208D ENST00000258168 NM_017429.2 208 gGc/gAc 0 -BCO2 UCSF GRCh37 11 112071473 112071473 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 84 47 102 0 ENST00000357685.5:c.1003G>A p.Val335Met p.V335M ENST00000357685 335 Gtg/Atg 0 -BCS1L UCSF GRCh37 2 219525867 219525867 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 59 81 0 ENST00000431802.1:c.157G>A p.Val53Ile p.V53I ENST00000431802 53 Gtc/Atc 0 -BDKRB1 UCSF GRCh37 14 96731073 96731073 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.00092 P05_Rec Untested WXS Illumina HiSeq 113 41 102 0 ENST00000216629.6:c.1054C>T p.Arg352Trp p.R352W ENST00000216629 NM_000710.3 352 Cgg/Tgg 0 -BEMT-ND2 UCSF GRCh37 X 18183192 18183192 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 70 93 0 ENST00000380033.4:c.2337C>T p.Thr779= p.T779= ENST00000380033 NM_153346.4 779 acC/acT 0 -BEST2 UCSF GRCh37 19 12866441 12866441 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 12 54 0 ENST00000549706.1:c.727G>A p.Ala243Thr p.A243T ENST00000549706 243 Gca/Aca 0 -GPRASP3 UCSF GRCh37 X 102004592 102004592 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 112 125 0 ENST00000372735.1:c.669C>T p.Ala223= p.A223= ENST00000372735 223 gcC/gcT 0 -BIN2 UCSF GRCh37 12 51685495 51685495 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 20 25 0 ENST00000267012.4:c.1395C>T p.Val465= p.V465= ENST00000267012 NM_016293.2 465 gtC/gtT 0 -BIRC6 UCSF GRCh37 2 32743376 32743376 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 65 126 0 ENST00000421745.2:c.11405G>A p.Gly3802Glu p.G3802E ENST00000421745 NM_016252.3 3802 gGg/gAg 0 -BIRC7 UCSF GRCh37 20 61869967 61869967 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 55 50 49 0 ENST00000217169.3:c.577+1G>A p.X193_splice ENST00000217169 NM_139317.2 0 -BLOC1S1 UCSF GRCh37 12 56110721 56110721 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 109 50 84 0 ENST00000548925.1:c.150G>A p.Lys50= p.K50= ENST00000548925 50 aaG/aaA 0 -BOD1L UCSF GRCh37 4 13597562 13597562 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 148 70 115 0 ENST00000040738.5:c.8026G>A p.Val2676Met p.V2676M ENST00000040738 NM_148894.2 2676 Gtg/Atg 0 -BPGM UCSF GRCh37 7 134346582 134346582 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 38 67 0 ENST00000393132.2:c.323G>A p.Gly108Asp p.G108D ENST00000393132 NM_199186.2 108 gGt/gAt 0 -BPIFA1 UCSF GRCh37 20 31829249 31829249 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 99 66 146 0 ENST00000354297.4:c.640G>A p.Val214Ile p.V214I ENST00000354297 NM_130852.2 214 Gtc/Atc 0 -BPTF UCSF GRCh37 17 65908699 65908699 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 115 49 110 0 ENST00000306378.6:c.4699C>T p.Leu1567= p.L1567= ENST00000306378 NM_182641.3 1567 Ctg/Ttg 0 -BRD3 UCSF GRCh37 9 136913446 136913446 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 112 42 30 0 ENST00000303407.7:c.845G>A p.Gly282Asp p.G282D ENST00000303407 NM_007371.3 282 gGt/gAt 0 -BRI3BP UCSF GRCh37 12 125509705 125509705 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 131 47 52 0 ENST00000341446.8:c.485G>A p.Arg162Gln p.R162Q ENST00000341446 NM_080626.5 162 cGg/cAg 0 -BRPF1 UCSF GRCh37 3 9785495 9785495 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 20 28 0 ENST00000383829.2:c.2545G>A p.Gly849Ser p.G849S ENST00000383829 NM_001003694.1 849 Ggt/Agt 0 -BRWD1 UCSF GRCh37 21 40601293 40601293 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 32 41 0 ENST00000333229.2:c.3070C>T p.Leu1024= p.L1024= ENST00000333229 NM_018963.4 1024 Cta/Tta 0 -BRWD1 UCSF GRCh37 21 40590459 40590459 + synonymous_variant Silent SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 32 46 0 ENST00000333229.2:c.3510C>A p.Ile1170= p.I1170= ENST00000333229 NM_018963.4 1170 atC/atA 0 -BRWD3 UCSF GRCh37 X 79989714 79989714 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 86 32 79 0 ENST00000373275.4:c.989G>A p.Gly330Asp p.G330D ENST00000373275 NM_153252.4 330 gGt/gAt 0 -BSN UCSF GRCh37 3 49689037 49689037 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 80 58 42 0 ENST00000296452.4:c.2048C>T p.Thr683Ile p.T683I ENST00000296452 NM_003458.3 683 aCa/aTa 0 -BSN UCSF GRCh37 3 49680541 49680541 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 27 20 26 0 ENST00000296452.4:c.1474G>A p.Val492Met p.V492M ENST00000296452 NM_003458.3 492 Gtg/Atg 0 -BSN UCSF GRCh37 3 49689614 49689614 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 19 25 0 ENST00000296452.4:c.2625G>A p.Gln875= p.Q875= ENST00000296452 NM_003458.3 875 caG/caA 0 -BTBD7 UCSF GRCh37 14 93712565 93712565 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 17 61 0 ENST00000334746.5:c.2189C>T p.Pro730Leu p.P730L ENST00000334746 NM_001002860.2 730 cCt/cTt 0 -BTG2 UCSF GRCh37 1 203276539 203276539 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 43 32 26 0 ENST00000290551.4:c.450G>A p.Lys150= p.K150= ENST00000290551 NM_006763.2 150 aaG/aaA 0 -C10orf10 UCSF GRCh37 10 45473337 45473337 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 55 39 0 ENST00000298295.3:c.142G>A p.Ala48Thr p.A48T ENST00000298295 NM_007021.3 48 Gca/Aca 0 -LCOR UCSF GRCh37 10 98744807 98744807 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 23 37 72 0 ENST00000286067.2:c.3660G>A p.Glu1220= p.E1220= ENST00000286067 NM_015652.2 1220 gaG/gaA 0 -C10orf120 UCSF GRCh37 10 124459240 124459240 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 33 61 0 ENST00000329446.4:c.67C>T p.Gln23Ter p.Q23* ENST00000329446 NM_001010912.2 23 Caa/Taa 0 -C10orf68 UCSF GRCh37 10 32983896 32983896 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 16 24 0 ENST00000302316.6:c.355C>T p.Leu119Phe p.L119F ENST00000302316 NM_024688.2 119 Ctt/Ttt 0 -C11orf66 UCSF GRCh37 11 61249350 61249350 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 34 17 0 ENST00000338608.2:c.69C>T p.Asp23= p.D23= ENST00000338608 NM_145017.2 23 gaC/gaT 0 -C12orf11 UCSF GRCh37 12 27077313 27077313 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 26 54 0 ENST00000261191.7:c.779C>T p.Thr260Ile p.T260I ENST00000261191 NM_018164.2 260 aCt/aTt 0 -C12orf11 UCSF GRCh37 12 27066981 27066981 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 33 29 0 ENST00000261191.7:c.1500C>T p.Asn500= p.N500= ENST00000261191 NM_018164.2 500 aaC/aaT 0 -C12orf51 UCSF GRCh37 12 112613626 112613626 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 160 33 126 1 ENST00000550722.1:c.11070C>T p.His3690= p.H3690= ENST00000550722 NM_001109662.3 3690 caC/caT 0 -C13orf27 UCSF GRCh37 13 103420646 103420646 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 25 56 56 0 ENST00000376032.4:c.262T>C p.Ser88Pro p.S88P ENST00000376032 NM_138779.3 88 Tca/Cca 0 -C14orf102 UCSF GRCh37 14 90770410 90770410 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 115 71 117 0 ENST00000354366.3:c.874G>A p.Glu292Lys p.E292K ENST00000354366 NM_017970.3 292 Gaa/Aaa 0 -C14orf28 UCSF GRCh37 14 45369727 45369727 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 36 74 0 ENST00000325192.3:c.89G>A p.Gly30Glu p.G30E ENST00000325192 NM_001017923.1 30 gGg/gAg 0 -C15orf27 UCSF GRCh37 15 76496215 76496215 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 56 57 0 ENST00000388942.3:c.1155C>T p.Thr385= p.T385= ENST00000388942 NM_152335.2 385 acC/acT 0 -C15orf33 UCSF GRCh37 15 49663565 49663565 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 122 63 102 0 ENST00000299338.6:c.1044C>T p.Asn348= p.N348= ENST00000299338 NM_152647.2 348 aaC/aaT 0 -C15orf55 UCSF GRCh37 15 34640819 34640819 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 47 77 0 ENST00000333756.4:c.666C>T p.Ala222= p.A222= ENST00000333756 NM_175741.1 222 gcC/gcT 0 -C16orf57 UCSF GRCh37 16 58043838 58043838 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 109 50 69 0 ENST00000219281.3:c.271G>A p.Ala91Thr p.A91T ENST00000219281 NM_024598.3 91 Gcc/Acc 0 -C16orf58 UCSF GRCh37 16 31510822 31510822 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 17 8 21 0 ENST00000327237.2:c.486G>A p.Lys162= p.K162= ENST00000327237 NM_022744.3 162 aaG/aaA 0 -C16orf71 UCSF GRCh37 16 4790360 4790360 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 70 47 28 0 ENST00000299320.5:c.483C>T p.Ser161= p.S161= ENST00000299320 NM_139170.2 161 tcC/tcT 0 -C17orf104 UCSF GRCh37 17 42745345 42745345 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 62 87 0 ENST00000409122.2:c.2066C>T p.Pro689Leu p.P689L ENST00000409122 NM_001145080.2 689 cCc/cTc 0 -C17orf74 UCSF GRCh37 17 7330099 7330099 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 45 35 0 ENST00000333870.3:c.789C>T p.Ser263= p.S263= ENST00000333870 NM_175734.4 263 tcC/tcT 0 -C17orf78 UCSF GRCh37 17 35745639 35745639 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 49 91 0 ENST00000300618.4:c.543G>A p.Trp181Ter p.W181* ENST00000300618 NM_173625.3 181 tgG/tgA 0 -C17orf80 UCSF GRCh37 17 71231716 71231716 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 26 58 0 ENST00000359042.2:c.95G>A p.Gly32Glu p.G32E ENST00000359042 NM_017941.4 32 gGa/gAa 0 -C17orf85 UCSF GRCh37 17 3721832 3721832 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 58 105 0 ENST00000389005.4:c.1035G>A p.Glu345= p.E345= ENST00000389005 NM_001114118.2 345 gaG/gaA 0 -C1orf116 UCSF GRCh37 1 207195526 207195526 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 22 30 0 ENST00000359470.5:c.1583C>T p.Pro528Leu p.P528L ENST00000359470 NM_023938.5 528 cCc/cTc 0 -C1orf55 UCSF GRCh37 1 226179064 226179064 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 25 60 0 ENST00000272091.7:c.521G>A p.Gly174Asp p.G174D ENST00000272091 NM_152608.3 174 gGt/gAt 0 -C20orf194 UCSF GRCh37 20 3275275 3275275 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 20 35 0 ENST00000252032.9:c.2019G>A p.Leu673= p.L673= ENST00000252032 NM_001009984.2 673 ttG/ttA 0 -C20orf20 UCSF GRCh37 20 61429976 61429976 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 225 154 137 0 ENST00000370487.3:c.308G>A p.Arg103Lys p.R103K ENST00000370487 NM_018270.4 103 aGg/aAg 0 -C20orf43 UCSF GRCh37 20 55092182 55092182 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 20 44 0 ENST00000023939.4:c.667G>A p.Val223Ile p.V223I ENST00000023939 NM_016407.3 223 Gtt/Att 0 -C21orf63 UCSF GRCh37 21 33887344 33887344 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 42 84 0 ENST00000300255.2:c.1170G>A p.Leu390= p.L390= ENST00000300255 NM_058187.3 390 ctG/ctA 0 -C2orf67 UCSF GRCh37 2 210889860 210889860 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 72 42 44 0 ENST00000281772.9:c.2532G>A p.Trp844Ter p.W844* ENST00000281772 NM_152519.2 844 tgG/tgA 0 -C3orf20 UCSF GRCh37 3 14799102 14799102 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 27 13 0 ENST00000253697.3:c.2165C>T p.Thr722Ile p.T722I ENST00000253697 NM_032137.4 722 aCc/aTc 0 -APRG1 UCSF GRCh37 3 37459110 37459110 + intron_variant Intron SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 189 39 97 0 ENST00000328376.5:c.226+127G>A *76* ENST00000328376 NM_178339.2 0 -C4A UCSF GRCh37 6 31997482 31997482 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 132 31 97 0 ENST00000435363.2:c.3816C>T p.Leu1272= p.L1272= ENST00000435363 NM_001002029.3 1272 ctC/ctT 0 -C4orf40 UCSF GRCh37 4 71024297 71024297 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 129 88 122 0 ENST00000344526.5:c.328C>T p.Pro110Ser p.P110S ENST00000344526 NM_214711.3 110 Ccg/Tcg 0 -IRX2-DT UCSF GRCh37 5 2752772 2752772 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 116 76 67 0 ENST00000334000.3:c.237C>T p.Tyr79= p.Y79= ENST00000334000 NM_178569.2 79 taC/taT 0 -C5orf42 UCSF GRCh37 5 37245866 37245866 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 38 37 0 ENST00000425232.2:c.163C>T p.Pro55Ser p.P55S ENST00000425232 NM_023073.3 55 Cct/Tct 0 -RIMOC1 UCSF GRCh37 5 41917238 41917238 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 35 77 0 ENST00000381647.2:c.722G>A p.Gly241Glu p.G241E ENST00000381647 NM_175921.4 241 gGa/gAa 0 -C6orf103 UCSF GRCh37 6 147073673 147073673 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 27 69 0 ENST00000397944.3:c.3373G>A p.Val1125Ile p.V1125I ENST00000397944 NM_024694.3 1125 Gtt/Att 0 -C6orf106 UCSF GRCh37 6 34614419 34614419 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 99 52 97 0 ENST00000374023.3:c.470G>A p.Gly157Glu p.G157E ENST00000374023 NM_024294.2 157 gGa/gAa 0 -C6orf118 UCSF GRCh37 6 165703467 165703467 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 47 64 0 ENST00000230301.8:c.1210G>A p.Asp404Asn p.D404N ENST00000230301 NM_144980.3 404 Gat/Aat 0 -C6orf168 UCSF GRCh37 6 99771450 99771450 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 51 16 38 0 ENST00000389677.5:c.693G>A p.Arg231= p.R231= ENST00000389677 NM_032511.2 231 agG/agA 0 -C6orf27 UCSF GRCh37 6 31735267 31735267 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 65 111 0 ENST00000375688.4:c.1661G>A p.Gly554Asp p.G554D ENST00000375688 554 gGc/gAc 0 -C6orf48 UCSF GRCh37 6 31807392 31807392 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 36 85 0 ENST00000375640.3:c.180C>T p.Ser60= p.S60= ENST00000375640 NM_001040438.1 60 tcC/tcT 0 -C6orf97 UCSF GRCh37 6 151894324 151894324 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 28 69 0 ENST00000239374.7:c.790G>A p.Val264Ile p.V264I ENST00000239374 NM_025059.3 264 Gta/Ata 0 -C6orf97 UCSF GRCh37 6 151894326 151894326 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 74 28 72 0 ENST00000239374.7:c.792A>G p.Val264= p.V264= ENST00000239374 NM_025059.3 264 gtA/gtG 0 -C7orf30 UCSF GRCh37 7 23339170 23339170 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 3 12 0 ENST00000466681.1:c.199C>T p.Leu67= p.L67= ENST00000466681 NM_138446.1 67 Ctg/Ttg 0 -C7orf51 UCSF GRCh37 7 100085797 100085797 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 271 99 133 0 ENST00000300179.2:c.453G>A p.Glu151= p.E151= ENST00000300179 NM_173564.3 151 gaG/gaA 0 -C7orf58 UCSF GRCh37 7 120629737 120629737 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 144 66 0 ENST00000310396.5:c.62G>A p.Gly21Asp p.G21D ENST00000310396 NM_024913.4 21 gGc/gAc 0 -C7orf64 UCSF GRCh37 7 92158212 92158212 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 12 19 0 ENST00000265732.5:c.85G>A p.Glu29Lys p.E29K ENST00000265732 NM_032120.2 29 Gag/Aag 0 -C8A UCSF GRCh37 1 57373672 57373672 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 25 53 0 ENST00000361249.3:c.1266G>A p.Arg422= p.R422= ENST00000361249 NM_000562.2 422 cgG/cgA 0 -C8orf33 UCSF GRCh37 8 146278156 146278156 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 108 48 29 0 ENST00000331434.6:c.191G>A p.Gly64Asp p.G64D ENST00000331434 NM_023080.2 64 gGc/gAc 0 -C8orf34 UCSF GRCh37 8 69381015 69381015 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 32 81 0 ENST00000518698.1:c.696G>A p.Glu232= p.E232= ENST00000518698 NM_052958.2 232 gaG/gaA 0 -C8orf76 UCSF GRCh37 8 124243833 124243833 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 145 96 139 0 ENST00000276704.4:c.522C>T p.Tyr174= p.Y174= ENST00000276704 NM_032847.2 174 taC/taT 0 -C8orf80 UCSF GRCh37 8 27922104 27922104 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 119 79 128 0 ENST00000413272.2:c.856G>A p.Val286Ile p.V286I ENST00000413272 NM_001010906.1 286 Gtc/Atc 0 -C9orf117 UCSF GRCh37 9 130474170 130474170 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 13 9 0 ENST00000373295.2:c.927C>T p.Leu309= p.L309= ENST00000373295 NM_001012502.2 309 ctC/ctT 0 -C9orf152 UCSF GRCh37 9 112963293 112963293 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 35 81 0 ENST00000400613.4:c.655C>T p.Pro219Ser p.P219S ENST00000400613 NM_001012993.2 219 Ccc/Tcc 0 -C9orf152 UCSF GRCh37 9 112963491 112963491 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 52 136 0 ENST00000400613.4:c.457C>T p.Pro153Ser p.P153S ENST00000400613 NM_001012993.2 153 Cct/Tct 0 -C9orf50 UCSF GRCh37 9 132381915 132381915 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 198 74 57 0 ENST00000372478.4:c.600G>A p.Trp200Ter p.W200* ENST00000372478 NM_199350.3 200 tgG/tgA 0 -C9orf84 UCSF GRCh37 9 114454608 114454608 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 101 64 105 0 ENST00000374287.3:c.3457G>A p.Glu1153Lys p.E1153K ENST00000374287 1153 Gag/Aag 0 -C9orf84 UCSF GRCh37 9 114543245 114543245 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 15 46 0 ENST00000374287.3:c.30G>A p.Trp10Ter p.W10* ENST00000374287 10 tgG/tgA 0 -CA12 UCSF GRCh37 15 63618500 63618500 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 40 43 0 ENST00000178638.3:c.1049C>T p.Thr350Ile p.T350I ENST00000178638 NM_001218.3 350 aCt/aTt 0 -CABS1 UCSF GRCh37 4 71201897 71201897 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 55 37 69 0 ENST00000273936.5:c.1141G>A p.Asp381Asn p.D381N ENST00000273936 NM_033122.3 381 Gat/Aat 0 -CACNA1S UCSF GRCh37 1 201009472 201009472 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 22 20 0 ENST00000362061.3:c.5257G>A p.Asp1753Asn p.D1753N ENST00000362061 NM_000069.2 1753 Gac/Aac 0 -CACNA2D3 UCSF GRCh37 3 54661876 54661876 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 52 111 0 ENST00000474759.1:c.1026G>A p.Leu342= p.L342= ENST00000474759 NM_018398.2 342 ctG/ctA 0 -CADPS UCSF GRCh37 3 62648069 62648069 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 31 41 0 ENST00000383710.4:c.889C>T p.Leu297= p.L297= ENST00000383710 NM_003716.3 297 Ctg/Ttg 0 -CALB2 UCSF GRCh37 16 71416647 71416647 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 29 84 0 ENST00000302628.4:c.368G>A p.Arg123Lys p.R123K ENST00000302628 NM_001740.4 123 aGg/aAg 0 -CAMK1G UCSF GRCh37 1 209776620 209776620 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 21 43 0 ENST00000009105.1:c.283C>T p.Leu95= p.L95= ENST00000009105 95 Ctg/Ttg 0 -CAMSAP1 UCSF GRCh37 9 138773575 138773575 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 71 63 0 ENST00000389532.4:c.489G>A p.Glu163= p.E163= ENST00000389532 NM_015447.3 163 gaG/gaA 0 -CAMTA1 UCSF GRCh37 1 7737659 7737659 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 64 79 0 ENST00000303635.7:c.2780C>T p.Ala927Val p.A927V ENST00000303635 NM_015215.2 927 gCc/gTc 0 -CAPN1 UCSF GRCh37 11 64956121 64956121 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 35 35 0 ENST00000527323.1:c.1069G>A p.Ala357Thr p.A357T ENST00000527323 357 Gcc/Acc 0 -CAPN12 UCSF GRCh37 19 39224996 39224996 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 17 26 0 ENST00000328867.4:c.1778G>A p.Gly593Glu p.G593E ENST00000328867 NM_144691.3 593 gGg/gAg 0 -CAPN3 UCSF GRCh37 15 42703102 42703102 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 39 42 0 ENST00000397163.3:c.2284C>T p.Leu762Phe p.L762F ENST00000397163 NM_000070.2 762 Ctc/Ttc 0 -CAPS UCSF GRCh37 19 5914424 5914424 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 40 45 0 ENST00000222125.5:c.7G>A p.Ala3Thr p.A3T ENST00000222125 NM_004058.3 3 Gcc/Acc 0 -CAPZA2 UCSF GRCh37 7 116544243 116544243 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 166 34 74 0 ENST00000361183.3:c.232G>A p.Glu78Lys p.E78K ENST00000361183 NM_006136.2 78 Gaa/Aaa 0 -CARS UCSF GRCh37 11 3028128 3028128 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 98 97 0 ENST00000380525.4:c.2130G>A p.Val710= p.V710= ENST00000380525 NM_001194997.1 710 gtG/gtA 0 -CASP10 UCSF GRCh37 2 202060618 202060618 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 110 47 153 0 ENST00000286186.6:c.631G>A p.Glu211Lys p.E211K ENST00000286186 NM_032977.3 211 Gag/Aag 0 -CBL UCSF GRCh37 11 119169134 119169134 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 39 54 0 ENST00000264033.4:c.2318G>A p.Gly773Glu p.G773E ENST00000264033 NM_005188.3 773 gGg/gAg 0 -CBLB UCSF GRCh37 3 105400646 105400646 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 22 44 0 ENST00000264122.4:c.2218C>T p.His740Tyr p.H740Y ENST00000264122 NM_170662.3 740 Cac/Tac 0 -CBX1 UCSF GRCh37 17 46153525 46153525 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 23 55 0 ENST00000393408.3:c.156G>A p.Trp52Ter p.W52* ENST00000393408 NM_006807.4 52 tgG/tgA 0 -CC2D2A UCSF GRCh37 4 15569352 15569352 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 124 67 111 0 ENST00000424120.1:c.3341C>T p.Thr1114Met p.T1114M ENST00000424120 1114 aCg/aTg 0 -CC2D2A UCSF GRCh37 4 15538543 15538543 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 46 80 0 ENST00000424120.1:c.1608G>A p.Lys536= p.K536= ENST00000424120 536 aaG/aaA 0 -CCBE1 UCSF GRCh37 18 57105359 57105359 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 18 11 27 0 ENST00000439986.4:c.971G>A p.Gly324Glu p.G324E ENST00000439986 NM_133459.3 324 gGg/gAg 0 -CCDC102A UCSF GRCh37 16 57546657 57546657 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 45 29 0 ENST00000258214.2:c.1649C>T p.Ala550Val p.A550V ENST00000258214 NM_033212.3 550 gCc/gTc 0 -CCDC107 UCSF GRCh37 9 35660428 35660428 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 58 55 0 ENST00000426546.2:c.289G>A p.Glu97Lys p.E97K ENST00000426546 NM_001195201.1 97 Gag/Aag 0 -CCDC114 UCSF GRCh37 19 48806279 48806279 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 36 32 0 ENST00000315396.7:c.951G>A p.Glu317= p.E317= ENST00000315396 NM_144577.3 317 gaG/gaA 0 -CCDC134 UCSF GRCh37 22 42209290 42209290 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 24 38 59 0 ENST00000255784.5:c.333C>T p.Asn111= p.N111= ENST00000255784 NM_024821.2 111 aaC/aaT 0 -CCDC138 UCSF GRCh37 2 109410995 109410995 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 24 67 0 ENST00000295124.4:c.395-1G>A p.X132_splice ENST00000295124 NM_144978.1 0 -CCDC14 UCSF GRCh37 3 123680084 123680084 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 6 20 0 ENST00000433542.2:c.81G>A p.Ala27= p.A27= ENST00000433542 NM_022757.4 27 gcG/gcA 0 -CCDC146 UCSF GRCh37 7 76888377 76888377 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 15 15 0 ENST00000285871.4:c.750C>T p.Arg250= p.R250= ENST00000285871 NM_020879.2 250 cgC/cgT 0 -CCDC146 UCSF GRCh37 7 76924039 76924039 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 39 66 0 ENST00000285871.4:c.2724G>A p.Gln908= p.Q908= ENST00000285871 NM_020879.2 908 caG/caA 0 -CCDC149 UCSF GRCh37 4 24810101 24810101 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 61 38 34 0 ENST00000504487.1:c.1500G>A p.Glu500= p.E500= ENST00000504487 NM_001130726.2 500 gaG/gaA 0 -CCDC150 UCSF GRCh37 2 197595664 197595664 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 25 74 0 ENST00000389175.4:c.3064G>A p.Glu1022Lys p.E1022K ENST00000389175 NM_001080539.1 1022 Gaa/Aaa 0 -CCDC57 UCSF GRCh37 17 80156261 80156261 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 53 29 41 0 ENST00000392343.3:c.445T>C p.Tyr149His p.Y149H ENST00000392343 149 Tat/Cat 0 -CCDC57 UCSF GRCh37 17 80146139 80146139 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 32 20 0 ENST00000392343.3:c.1008G>A p.Trp336Ter p.W336* ENST00000392343 336 tgG/tgA 0 -CCDC57 UCSF GRCh37 17 80086473 80086473 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 24 17 0 ENST00000389641.4:c.2245G>A p.Asp749Asn p.D749N ENST00000389641 749 Gac/Aac 0 -CCDC60 UCSF GRCh37 12 119954456 119954456 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 11 46 0 ENST00000327554.2:c.912G>A p.Arg304= p.R304= ENST00000327554 NM_178499.3 304 cgG/cgA 0 -CCDC65 UCSF GRCh37 12 49310856 49310856 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 26 49 0 ENST00000320516.4:c.574G>A p.Glu192Lys p.E192K ENST00000320516 NM_033124.4 192 Gag/Aag 0 -CCDC66 UCSF GRCh37 3 56592873 56592873 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 22 23 0 ENST00000394672.3:c.12-1G>A p.X4_splice ENST00000394672 NM_001141947.1 0 -CCDC66 UCSF GRCh37 3 56651234 56651234 + synonymous_variant Silent SNP G G A snp132_rs114565523 P05_Rec Untested WXS Illumina HiSeq 62 19 50 0 ENST00000394672.3:c.1938G>A p.Ser646= p.S646= ENST00000394672 NM_001141947.1 646 tcG/tcA 0 -CCDC8 UCSF GRCh37 19 46914669 46914669 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 42 48 0 ENST00000307522.3:c.1399C>T p.Pro467Ser p.P467S ENST00000307522 NM_032040.4 467 Cca/Tca 0 -CCDC88A UCSF GRCh37 2 55522966 55522966 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 47 73 0 ENST00000336838.6:c.5315C>T p.Pro1772Leu p.P1772L ENST00000336838 1772 cCt/cTt 0 -CCDC88B UCSF GRCh37 11 64112135 64112135 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 16 11 0 ENST00000356786.5:c.2122G>A p.Val708Ile p.V708I ENST00000356786 NM_032251.5 708 Gtc/Atc 0 -CCNG2 UCSF GRCh37 4 78080624 78080624 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 122 58 59 0 ENST00000316355.5:c.243C>T p.Val81= p.V81= ENST00000316355 NM_004354.2 81 gtC/gtT 0 -CCNJL UCSF GRCh37 5 159680671 159680671 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 21 32 30 0 ENST00000393977.3:c.1022C>T p.Thr341Ile p.T341I ENST00000393977 NM_024565.5 341 aCc/aTc 0 -CCNT1 UCSF GRCh37 12 49087669 49087669 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 95 44 88 0 ENST00000261900.3:c.1328G>A p.Gly443Asp p.G443D ENST00000261900 NM_001240.3 443 gGt/gAt 0 -CCP110 UCSF GRCh37 16 19547481 19547481 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 48 81 0 ENST00000381396.5:c.490G>A p.Asp164Asn p.D164N ENST00000381396 NM_001199022.1 164 Gat/Aat 0 -CD109 UCSF GRCh37 6 74528156 74528156 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 28 39 0 ENST00000287097.5:c.3957C>T p.Asn1319= p.N1319= ENST00000287097 1319 aaC/aaT 0 -CD163 UCSF GRCh37 12 7647854 7647854 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 61 88 0 ENST00000359156.4:c.1243G>A p.Gly415Arg p.G415R ENST00000359156 NM_004244.5 415 Gga/Aga 0 -CD19 UCSF GRCh37 16 28943335 28943335 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 41 53 0 ENST00000538922.1:c.14G>A p.Arg5His p.R5H ENST00000538922 NM_001178098.1 5 cGc/cAc 0 -CD244 UCSF GRCh37 1 160802358 160802358 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 28 73 0 ENST00000368033.3:c.983C>T p.Ser328Phe p.S328F ENST00000368033 328 tCc/tTc 0 -CD244 UCSF GRCh37 1 160811234 160811234 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 40 77 0 ENST00000368033.3:c.436C>T p.Leu146= p.L146= ENST00000368033 146 Ctg/Ttg 0 -CD248 UCSF GRCh37 11 66083250 66083250 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 104 49 56 0 ENST00000311330.3:c.1249G>A p.Asp417Asn p.D417N ENST00000311330 NM_020404.2 417 Gac/Aac 0 -CD300LG UCSF GRCh37 17 41926176 41926176 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 70 34 65 0 ENST00000317310.4:c.294C>T p.Thr98= p.T98= ENST00000317310 NM_145273.3 98 acC/acT 0 -CD33 UCSF GRCh37 19 51728619 51728619 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 52 102 0 ENST00000262262.4:c.183C>T p.Phe61= p.F61= ENST00000262262 NM_001772.3 61 ttC/ttT 0 -CDC16 UCSF GRCh37 13 115037701 115037701 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 28 40 72 0 ENST00000360383.3:c.1646T>C p.Val549Ala p.V549A ENST00000360383 NM_001078645.1 549 gTg/gCg 0 -CDC27 UCSF GRCh37 17 45232117 45232117 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 48 65 0 ENST00000531206.1:c.878G>A p.Gly293Glu p.G293E ENST00000531206 293 gGa/gAa 0 -CDC42BPA UCSF GRCh37 1 227204712 227204712 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 101 45 88 0 ENST00000366769.3:c.4550G>A p.Ser1517Asn p.S1517N ENST00000366769 NM_003607.3 1517 aGt/aAt 0 -CDC42BPG UCSF GRCh37 11 64607621 64607621 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 26 23 0 ENST00000342711.5:c.552C>T p.His184= p.H184= ENST00000342711 NM_017525.2 184 caC/caT 0 -CDC42BPG UCSF GRCh37 11 64596944 64596944 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 22 14 0 ENST00000342711.5:c.3966G>A p.Trp1322Ter p.W1322* ENST00000342711 NM_017525.2 1322 tgG/tgA 0 -CDCA7 UCSF GRCh37 2 174229627 174229627 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0030 P05_Rec Untested WXS Illumina HiSeq 46 51 57 0 ENST00000306721.3:c.804G>A p.Gly268= p.G268= ENST00000306721 NM_031942.4 268 ggG/ggA 0 -CDCP2 UCSF GRCh37 1 54610301 54610301 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 25 32 0 ENST00000371330.1:c.265G>A p.Glu89Lys p.E89K ENST00000371330 NM_201546.3 89 Gag/Aag 0 -CDH1 UCSF GRCh37 16 68867309 68867309 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 30 70 0 ENST00000261769.5:c.2556G>A p.Glu852= p.E852= ENST00000261769 NM_004360.3 852 gaG/gaA 0 -CDH19 UCSF GRCh37 18 64235770 64235770 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 100 49 97 0 ENST00000262150.2:c.373G>A p.Gly125Arg p.G125R ENST00000262150 NM_021153.3 125 Gga/Aga 0 -CDH23 UCSF GRCh37 10 73434906 73434906 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.252,1000g2011may_all_0.28177,snp132_rs10999947 P05_Rec Untested WXS Illumina HiSeq 20 31 54 0 ENST00000224721.6:c.1502G>A p.Ser501Asn p.S501N ENST00000224721 NM_022124.5 501 aGc/aAc 0 -CDH24 UCSF GRCh37 14 23523978 23523978 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 43 47 0 ENST00000397359.3:c.594C>T p.Phe198= p.F198= ENST00000397359 NM_022478.3 198 ttC/ttT 0 -CDH8 UCSF GRCh37 16 61858915 61858915 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 117 53 82 0 ENST00000577390.1:c.835+1G>A p.X279_splice ENST00000577390 NM_001796.4 0 -CDH9 UCSF GRCh37 5 26886136 26886136 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 95 48 88 0 ENST00000231021.4:c.1569C>T p.Phe523= p.F523= ENST00000231021 NM_016279.3 523 ttC/ttT 0 -CDHR3 UCSF GRCh37 7 105624728 105624728 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 25 48 0 ENST00000317716.9:c.506C>T p.Pro169Leu p.P169L ENST00000317716 NM_152750.4 169 cCc/cTc 0 -CDK10 UCSF GRCh37 16 89755684 89755684 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 10 29 0 ENST00000353379.7:c.112G>A p.Glu38Lys p.E38K ENST00000353379 NM_052988.4 38 Gag/Aag 0 -CDK11A UCSF GRCh37 1 1634940 1634940 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 10 26 0 ENST00000404249.3:c.2035G>A p.Asp679Asn p.D679N ENST00000404249 NM_024011.2 679 Gac/Aac 0 -CDK11B UCSF GRCh37 1 1571841 1571841 + missense_variant,splice_region_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 75 11 40 0 ENST00000407249.3:c.1929T>G p.Asp643Glu p.D643E ENST00000407249 643 gaT/gaG 0 -CDK12 UCSF GRCh37 17 37667883 37667883 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 25 61 1 ENST00000447079.4:c.2768G>A p.Gly923Glu p.G923E ENST00000447079 NM_015083.1 923 gGa/gAa 0 -CDK13 UCSF GRCh37 7 40132563 40132563 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 176 70 161 0 ENST00000181839.4:c.3415G>A p.Gly1139Ser p.G1139S ENST00000181839 NM_031267.3 1139 Ggt/Agt 0 -CDK18 UCSF GRCh37 1 205495550 205495550 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 47 71 0 ENST00000506784.1:c.717C>T p.Ile239= p.I239= ENST00000506784 239 atC/atT 0 -CDK20 UCSF GRCh37 9 90585714 90585714 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 16 16 0 ENST00000325303.8:c.477C>T p.Leu159= p.L159= ENST00000325303 NM_001039803.2 159 ctC/ctT 0 -CDK4 UCSF GRCh37 12 58145092 58145092 + synonymous_variant Silent SNP G G A NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 118 44 87 0 ENST00000257904.6:c.252C>T p.Asp84= p.D84= ENST00000257904 NM_000075.3 84 gaC/gaT 0 -CDK6 UCSF GRCh37 7 92244504 92244504 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 35 10 36 0 ENST00000265734.4:c.931G>A p.Asp311Asn p.D311N ENST00000265734 NM_001259.6 311 Gat/Aat 0 -CDKN2A UCSF GRCh37 9 21971017 21971017 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 25 34 23 0 ENST00000304494.5:c.341C>T p.Pro114Leu p.P114L ENST00000304494 NM_000077.4 114 cCc/cTc 0 -CDYL2 UCSF GRCh37 16 80654695 80654695 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 18 42 0 ENST00000570137.2:c.972G>A p.Arg324= p.R324= ENST00000570137 NM_152342.2 324 cgG/cgA 0 -CEACAM16 UCSF GRCh37 19 45208927 45208927 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 46 71 0 ENST00000587331.1:c.729C>T p.Asp243= p.D243= ENST00000587331 NM_001039213.2 243 gaC/gaT 0 -CEACAM5 UCSF GRCh37 19 42224071 42224071 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 121 81 185 0 ENST00000221992.6:c.1715G>A p.Gly572Glu p.G572E ENST00000221992 NM_004363.2 572 gGa/gAa 0 -CECR2 UCSF GRCh37 22 18018789 18018789 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 133 106 179 0 ENST00000262608.8:c.1413G>A p.Lys471= p.K471= ENST00000262608 NM_031413.3 471 aaG/aaA 0 -CELF2 UCSF GRCh37 10 11367840 11367840 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 43 70 0 ENST00000450189.1:c.1336G>A p.Glu446Lys p.E446K ENST00000450189 NM_006561.3 446 Gaa/Aaa 0 -CELF4 UCSF GRCh37 18 34850748 34850748 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 22 40 0 ENST00000420428.2:c.1082G>A p.Gly361Asp p.G361D ENST00000420428 NM_020180.3 361 gGc/gAc 0 -CELSR1 UCSF GRCh37 22 46794525 46794525 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 16 26 30 0 ENST00000262738.3:c.5422G>A p.Asp1808Asn p.D1808N ENST00000262738 NM_014246.1 1808 Gat/Aat 0 -CELSR3 UCSF GRCh37 3 48677633 48677633 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 40 28 0 ENST00000164024.4:c.9385G>A p.Asp3129Asn p.D3129N ENST00000164024 NM_001407.2 3129 Gac/Aac 0 -CENPE UCSF GRCh37 4 104102587 104102587 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 28 33 0 ENST00000265148.3:c.990G>A p.Lys330= p.K330= ENST00000265148 NM_001813.2 330 aaG/aaA 0 -CENPJ UCSF GRCh37 13 25458563 25458563 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 24 52 0 ENST00000381884.4:c.3516G>A p.Leu1172= p.L1172= ENST00000381884 NM_018451.4 1172 ctG/ctA 0 -CENPT UCSF GRCh37 16 67865247 67865247 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 100 32 52 0 ENST00000562787.1:c.575C>T p.Thr192Ile p.T192I ENST00000562787 NM_025082.3 192 aCc/aTc 0 -CEP104 UCSF GRCh37 1 3768942 3768942 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 27 36 0 ENST00000378230.3:c.30C>T p.Val10= p.V10= ENST00000378230 NM_014704.3 10 gtC/gtT 0 -CEP128 UCSF GRCh37 14 80993238 80993238 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 22 52 0 ENST00000555265.1:c.3047C>T p.Thr1016Ile p.T1016I ENST00000555265 1016 aCc/aTc 0 -CEP250 UCSF GRCh37 20 34057745 34057745 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 61 62 0 ENST00000397527.1:c.882G>A p.Gln294= p.Q294= ENST00000397527 NM_007186.3 294 caG/caA 0 -CEP290 UCSF GRCh37 12 88505548 88505548 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 25 23 0 ENST00000552810.1:c.2140G>A p.Glu714Lys p.E714K ENST00000552810 NM_025114.3 714 Gaa/Aaa 0 -CHAC1 UCSF GRCh37 15 41247886 41247886 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 65 35 0 ENST00000446533.3:c.709G>A p.Asp237Asn p.D237N ENST00000446533 NM_024111.3 237 Gac/Aac 0 -CHD1L UCSF GRCh37 1 146740464 146740464 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 22 31 0 ENST00000369258.4:c.1012G>A p.Val338Ile p.V338I ENST00000369258 NM_001256336.1 338 Gtt/Att 0 -CHD5 UCSF GRCh37 1 6211163 6211163 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 25 60 0 ENST00000262450.3:c.923G>A p.Ser308Asn p.S308N ENST00000262450 NM_015557.2 308 aGt/aAt 0 -CHD8 UCSF GRCh37 14 21870663 21870663 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 80 26 114 0 ENST00000399982.2:c.3715-1G>A p.X1239_splice ENST00000399982 NM_001170629.1 0 -CHI3L2 UCSF GRCh37 1 111781386 111781386 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 32 82 0 ENST00000445067.2:c.750G>A p.Gly250= p.G250= ENST00000445067 250 ggG/ggA 0 -CHRD UCSF GRCh37 3 184107167 184107167 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 8 8 23 0 ENST00000204604.1:c.2825C>T p.Thr942Ile p.T942I ENST00000204604 NM_003741.2 942 aCc/aTc 0 -CHRM1 UCSF GRCh37 11 62677223 62677223 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 85 30 0 ENST00000306960.3:c.1350C>T p.Gly450= p.G450= ENST00000306960 NM_000738.2 450 ggC/ggT 0 -CHRM3 UCSF GRCh37 1 240071285 240071285 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 95 63 110 0 ENST00000255380.4:c.534C>T p.Ala178= p.A178= ENST00000255380 NM_000740.2 178 gcC/gcT 0 -CHRM5 UCSF GRCh37 15 34355661 34355661 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 84 94 0 ENST00000383263.5:c.743C>T p.Ala248Val p.A248V ENST00000383263 NM_012125.3 248 gCt/gTt 0 -CHRNA2 UCSF GRCh37 8 27320517 27320517 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 153 88 63 0 ENST00000407991.1:c.1443G>A p.Arg481= p.R481= ENST00000407991 NM_000742.3 481 cgG/cgA 0 -CHRNE UCSF GRCh37 17 4802823 4802823 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 17 10 0 ENST00000293780.4:c.972C>T p.Ile324= p.I324= ENST00000293780 NM_000080.3 324 atC/atT 0 -CHTOP UCSF GRCh37 1 153610925 153610925 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 28 75 0 ENST00000368694.3:c.219+1G>A p.X73_splice ENST00000368694 NM_001206612.1 0 -CHURC1-FNTB UCSF GRCh37 14 65507588 65507588 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 81 32 81 0 ENST00000246166.2:c.773C>T p.Ala258Val p.A258V ENST00000246166 NM_002028.3 258 gCg/gTg 0 -CIDEC UCSF GRCh37 3 9911904 9911904 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 23 51 0 ENST00000430427.1:c.340G>A p.Asp114Asn p.D114N ENST00000430427 NM_001199551.1 114 Gat/Aat 0 -CIDEC UCSF GRCh37 3 9911985 9911985 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 33 68 1 ENST00000430427.1:c.259G>A p.Ala87Thr p.A87T ENST00000430427 NM_001199551.1 87 Gca/Aca 0 -CIT UCSF GRCh37 12 120148087 120148087 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 68 62 99 0 ENST00000392521.2:c.5040C>G p.Ile1680Met p.I1680M ENST00000392521 NM_001206999.1 1680 atC/atG 0 -CIT UCSF GRCh37 12 120198744 120198744 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 158 37 133 0 ENST00000392521.2:c.2420C>T p.Ala807Val p.A807V ENST00000392521 NM_001206999.1 807 gCg/gTg 0 -CLASRP UCSF GRCh37 19 45563647 45563647 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 30 37 0 ENST00000221455.3:c.711G>A p.Arg237= p.R237= ENST00000221455 NM_007056.2 237 agG/agA 0 -CLCA4 UCSF GRCh37 1 87041026 87041026 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 33 67 0 ENST00000370563.3:c.1695G>A p.Trp565Ter p.W565* ENST00000370563 NM_012128.3 565 tgG/tgA 0 -CLCN2 UCSF GRCh37 3 184071508 184071508 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 9 9 0 ENST00000265593.4:c.1797C>T p.Asp599= p.D599= ENST00000265593 NM_004366.5 599 gaC/gaT 0 -CLCN6 UCSF GRCh37 1 11897461 11897461 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 120 66 71 0 ENST00000346436.6:c.2200G>A p.Glu734Lys p.E734K ENST00000346436 NM_001286.3 734 Gag/Aag 0 -CLCN7 UCSF GRCh37 16 1505749 1505749 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 44 21 35 0 ENST00000382745.4:c.964T>C p.Phe322Leu p.F322L ENST00000382745 NM_001287.5 322 Ttc/Ctc 0 -CLDN12 UCSF GRCh37 7 90042082 90042082 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 152 52 97 0 ENST00000535571.1:c.92C>T p.Pro31Leu p.P31L ENST00000535571 NM_001185072.2 31 cCc/cTc 0 -CLDN14 UCSF GRCh37 21 37833860 37833860 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 13 12 0 ENST00000399137.1:c.134C>T p.Ser45Phe p.S45F ENST00000399137 NM_144492.2 45 tCc/tTc 0 -CLDN25 UCSF GRCh37 11 113651156 113651156 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 44 57 0 ENST00000453129.2:c.639G>A p.Glu213= p.E213= ENST00000453129 NM_001101389.1 213 gaG/gaA 0 -CLDN3 UCSF GRCh37 7 73183997 73183997 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 24 14 0 ENST00000395145.2:c.383C>T p.Ala128Val p.A128V ENST00000395145 NM_001306.3 128 gCc/gTc 0 -CLEC14A UCSF GRCh37 14 38723923 38723923 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 46 61 0 ENST00000342213.2:c.1305G>A p.Lys435= p.K435= ENST00000342213 NM_175060.2 435 aaG/aaA 0 -CLEC4F UCSF GRCh37 2 71046551 71046551 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 5 28 0 ENST00000272367.2:c.204G>A p.Pro68= p.P68= ENST00000272367 NM_001258027.1 68 ccG/ccA 0 -CLIC2 UCSF GRCh37 X 154528171 154528171 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 20 46 56 0 ENST00000369449.2:c.220G>A p.Val74Met p.V74M ENST00000369449 NM_001289.4 74 Gtg/Atg 0 -CLIC3 UCSF GRCh37 9 139889703 139889703 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 30 13 0 ENST00000494426.1:c.311C>T p.Ala104Val p.A104V ENST00000494426 NM_004669.2 104 gCc/gTc 0 -CLIP1 UCSF GRCh37 12 122825965 122825965 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 167 57 143 0 ENST00000540338.1:c.1786G>A p.Glu596Lys p.E596K ENST00000540338 596 Gaa/Aaa 0 -CLMN UCSF GRCh37 14 95688111 95688111 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 12 40 0 ENST00000298912.4:c.241C>T p.Leu81= p.L81= ENST00000298912 NM_024734.3 81 Ctg/Ttg 0 -CLOCK UCSF GRCh37 4 56308688 56308688 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 29 45 0 ENST00000309964.4:c.2016C>T p.Ala672= p.A672= ENST00000309964 NM_004898.3 672 gcC/gcT 0 -CLPB UCSF GRCh37 11 72012915 72012915 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 96 136 0 ENST00000294053.3:c.1351G>A p.Val451Met p.V451M ENST00000294053 NM_001258394.1 451 Gtg/Atg 0 -CLPTM1L UCSF GRCh37 5 1339018 1339018 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 70 43 30 0 ENST00000320895.5:c.556G>A p.Asp186Asn p.D186N ENST00000320895 NM_030782.3 186 Gac/Aac 0 -CLPX UCSF GRCh37 15 65459022 65459022 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 105 68 111 0 ENST00000300107.3:c.460G>A p.Ala154Thr p.A154T ENST00000300107 NM_006660.3 154 Gca/Aca 0 -CLTCL1 UCSF GRCh37 22 19222138 19222138 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 99 59 133 0 ENST00000263200.10:c.1061G>A p.Arg354His p.R354H ENST00000263200 NM_007098.3 354 cGt/cAt 0 -CMTM7 UCSF GRCh37 3 32493943 32493943 + missense_variant Missense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 135 42 112 0 ENST00000334983.5:c.492C>G p.Ile164Met p.I164M ENST00000334983 NM_138410.2 164 atC/atG 0 -CNGA1 UCSF GRCh37 4 47939410 47939410 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 136 77 163 0 ENST00000402813.3:c.1308C>T p.Pro436= p.P436= ENST00000402813 436 ccC/ccT 0 -CNGB1 UCSF GRCh37 16 57921761 57921761 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 124 52 70 0 ENST00000251102.8:c.3460C>T p.Gln1154Ter p.Q1154* ENST00000251102 NM_001297.4 1154 Cag/Tag 0 -CNKSR1 UCSF GRCh37 1 26510576 26510576 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 51 36 59 0 ENST00000361530.6:c.870C>T p.Val290= p.V290= ENST00000361530 290 gtC/gtT 0 -CNOT10 UCSF GRCh37 3 32761616 32761616 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 32 50 0 ENST00000454516.2:c.935C>T p.Ser312Phe p.S312F ENST00000454516 NM_001256742.1 312 tCt/tTt 0 -CNOT2 UCSF GRCh37 12 70739975 70739975 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 40 32 74 0 ENST00000229195.3:c.1407G>A p.Trp469Ter p.W469* ENST00000229195 NM_014515.5 469 tgG/tgA 0 -CNTN4 UCSF GRCh37 3 2967424 2967424 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 120 64 110 0 ENST00000397461.1:c.1319C>T p.Thr440Ile p.T440I ENST00000397461 NM_001206955.1 440 aCc/aTc 0 -CNTNAP2 UCSF GRCh37 7 147092808 147092808 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 124 69 97 0 ENST00000361727.3:c.1606G>A p.Val536Met p.V536M ENST00000361727 NM_014141.5 536 Gtg/Atg 0 -CNTNAP2 UCSF GRCh37 7 146471385 146471385 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 9 18 0 ENST00000361727.3:c.120C>T p.Val40= p.V40= ENST00000361727 NM_014141.5 40 gtC/gtT 0 -CNTNAP3 UCSF GRCh37 9 39109170 39109170 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 43 127 0 ENST00000297668.6:c.2352C>T p.Leu784= p.L784= ENST00000297668 NM_033655.3 784 ctC/ctT 0 -CNTRL UCSF GRCh37 9 123922424 123922424 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 35 52 0 ENST00000373855.1:c.4933G>A p.Val1645Ile p.V1645I ENST00000373855 1645 Gta/Ata 0 -COG7 UCSF GRCh37 16 23409437 23409437 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 12 26 0 ENST00000307149.5:c.1817C>T p.Ala606Val p.A606V ENST00000307149 NM_153603.3 606 gCt/gTt 0 -COL11A1 UCSF GRCh37 1 103467488 103467488 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 27 62 0 ENST00000370096.3:c.2135G>A p.Gly712Asp p.G712D ENST00000370096 NM_001854.3 712 gGt/gAt 0 -COL11A2 UCSF GRCh37 6 33156946 33156946 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 43 20 43 0 ENST00000374708.4:c.252C>T p.Phe84= p.F84= ENST00000374708 NM_080681.2 84 ttC/ttT 0 -COL15A1 UCSF GRCh37 9 101785659 101785659 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 5 9 0 ENST00000375001.3:c.1782C>T p.Gly594= p.G594= ENST00000375001 NM_001855.4 594 ggC/ggT 0 -COL16A1 UCSF GRCh37 1 32120459 32120459 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 149 82 107 0 ENST00000373672.3:c.4291G>A p.Gly1431Arg p.G1431R ENST00000373672 NM_001856.3 1431 Gga/Aga 0 -COL1A1 UCSF GRCh37 17 48271324 48271324 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 24 49 0 ENST00000225964.5:c.1747C>T p.Pro583Ser p.P583S ENST00000225964 NM_000088.3 583 Cct/Tct 0 -COL28A1 UCSF GRCh37 7 7400059 7400059 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 18 51 0 ENST00000399429.3:c.3167C>T p.Pro1056Leu p.P1056L ENST00000399429 NM_001037763.2 1056 cCc/cTc 0 -COL2A1 UCSF GRCh37 12 48388219 48388219 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 7 23 0 ENST00000380518.3:c.804G>A p.Pro268= p.P268= ENST00000380518 NM_033150.2 268 ccG/ccA 0 -COL3A1 UCSF GRCh37 2 189855065 189855065 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 16 37 0 ENST00000304636.3:c.777C>T p.Phe259= p.F259= ENST00000304636 NM_000090.3 259 ttC/ttT 0 -COL5A1 UCSF GRCh37 9 137646141 137646141 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 30 35 0 ENST00000371817.3:c.1796C>T p.Pro599Leu p.P599L ENST00000371817 NM_001278074.1 599 cCg/cTg 0 -COL5A1 UCSF GRCh37 9 137727017 137727017 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 19 16 0 ENST00000371817.3:c.5337C>T p.Asn1779= p.N1779= ENST00000371817 NM_001278074.1 1779 aaC/aaT 0 -COL5A2 UCSF GRCh37 2 189928723 189928723 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 14 15 0 ENST00000374866.3:c.1753G>A p.Gly585Arg p.G585R ENST00000374866 NM_000393.3 585 Gga/Aga 0 -COL5A3 UCSF GRCh37 19 10116849 10116849 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 18 14 0 ENST00000264828.3:c.147G>A p.Glu49= p.E49= ENST00000264828 NM_015719.3 49 gaG/gaA 0 -COL7A1 UCSF GRCh37 3 48618048 48618048 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 14 17 0 ENST00000328333.8:c.5018G>A p.Gly1673Glu p.G1673E ENST00000328333 NM_000094.3 1673 gGa/gAa 0 -COL7A1 UCSF GRCh37 3 48623045 48623045 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 112 42 80 0 ENST00000328333.8:c.3839C>T p.Thr1280Ile p.T1280I ENST00000328333 NM_000094.3 1280 aCc/aTc 0 -COL7A1 UCSF GRCh37 3 48610990 48610990 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 21 52 0 ENST00000328333.8:c.6574G>A p.Gly2192Ser p.G2192S ENST00000328333 NM_000094.3 2192 Ggt/Agt 0 -COMP UCSF GRCh37 19 18900034 18900034 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 27 5 9 0 ENST00000222271.2:c.463C>T p.Pro155Ser p.P155S ENST00000222271 NM_000095.2 155 Ccg/Tcg 0 -COPG2 UCSF GRCh37 7 130297051 130297051 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 93 39 52 0 ENST00000445977.2:c.551C>T p.Ala184Val p.A184V ENST00000445977 184 gCt/gTt 0 -COQ10B UCSF GRCh37 2 198327456 198327456 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 40 92 0 ENST00000263960.2:c.447+1G>A p.X149_splice ENST00000263960 NM_025147.3 0 -CORO1B UCSF GRCh37 11 67210034 67210034 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 56 42 0 ENST00000393893.1:c.66C>T p.Asn22= p.N22= ENST00000393893 NM_001018070.2 22 aaC/aaT 0 -CPA1 UCSF GRCh37 7 130024402 130024402 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 31 59 0 ENST00000011292.3:c.722C>T p.Ser241Phe p.S241F ENST00000011292 NM_001868.2 241 tCc/tTc 0 -CPA2 UCSF GRCh37 7 129910532 129910532 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 26 48 0 ENST00000222481.4:c.289-1G>A p.X97_splice ENST00000222481 NM_001869.2 0 -CPA6 UCSF GRCh37 8 68423853 68423853 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 135 83 171 0 ENST00000297770.4:c.355G>A p.Gly119Arg p.G119R ENST00000297770 NM_020361.4 119 Gga/Aga 0 -CPEB2 UCSF GRCh37 4 15067995 15067995 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 24 20 0 ENST00000538197.1:c.3096C>T p.Arg1032= p.R1032= ENST00000538197 NM_001177382.1 1032 cgC/cgT 0 -CPLX4 UCSF GRCh37 18 56963995 56963995 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 15 48 0 ENST00000299721.3:c.418G>A p.Glu140Lys p.E140K ENST00000299721 NM_181654.3 140 Gaa/Aaa 0 -CPN1 UCSF GRCh37 10 101841302 101841302 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 8 18 36 0 ENST00000370418.3:c.81C>T p.Arg27= p.R27= ENST00000370418 NM_001308.2 27 cgC/cgT 0 -CPNE4 UCSF GRCh37 3 131261584 131261584 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 20 75 0 ENST00000512055.1:c.1356C>T p.Asp452= p.D452= ENST00000512055 452 gaC/gaT 0 -CPNE7 UCSF GRCh37 16 89655150 89655150 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 20 18 0 ENST00000268720.5:c.1220C>T p.Pro407Leu p.P407L ENST00000268720 NM_014427.4 407 cCc/cTc 0 -CPNE7 UCSF GRCh37 16 89655121 89655121 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 19 20 0 ENST00000268720.5:c.1191G>A p.Arg397= p.R397= ENST00000268720 NM_014427.4 397 cgG/cgA 0 -CPNE9 UCSF GRCh37 3 9759751 9759751 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 94 24 62 0 ENST00000383832.3:c.970C>T p.Pro324Ser p.P324S ENST00000383832 NM_153635.2 324 Ccc/Tcc 0 -CPO UCSF GRCh37 2 207827203 207827203 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 137 52 94 0 ENST00000272852.3:c.642G>A p.Glu214= p.E214= ENST00000272852 NM_173077.2 214 gaG/gaA 0 -CPS1 UCSF GRCh37 2 211540487 211540487 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 30 47 0 ENST00000430249.2:c.4215C>T p.Asn1405= p.N1405= ENST00000430249 NM_001122633.2 1405 aaC/aaT 0 -CPSF2 UCSF GRCh37 14 92625468 92625468 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 29 102 0 ENST00000298875.4:c.1963G>A p.Asp655Asn p.D655N ENST00000298875 NM_017437.2 655 Gat/Aat 0 -CPSF3 UCSF GRCh37 2 9568931 9568931 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 32 21 0 ENST00000238112.3:c.88C>T p.Leu30Phe p.L30F ENST00000238112 NM_016207.3 30 Ctc/Ttc 0 -CR2 UCSF GRCh37 1 207644796 207644796 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 28 72 0 ENST00000367057.3:c.1522G>A p.Glu508Lys p.E508K ENST00000367057 NM_001006658.2 508 Gag/Aag 0 -CRB1 UCSF GRCh37 1 197297784 197297784 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 29 48 0 ENST00000367400.3:c.303G>A p.Gly101= p.G101= ENST00000367400 NM_201253.2 101 ggG/ggA 0 -CRB2 UCSF GRCh37 9 126133407 126133407 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 195 136 98 0 ENST00000373631.3:c.1986C>T p.Leu662= p.L662= ENST00000373631 NM_173689.5 662 ctC/ctT 0 -CREB3L3 UCSF GRCh37 19 4157196 4157196 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 32 36 0 ENST00000078445.2:c.361G>A p.Gly121Arg p.G121R ENST00000078445 NM_032607.2 121 Ggg/Agg 0 -CREB5 UCSF GRCh37 7 28527801 28527801 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 173 51 96 0 ENST00000357727.2:c.12G>A p.Glu4= p.E4= ENST00000357727 NM_182898.2 4 gaG/gaA 0 -CREBBP UCSF GRCh37 16 3900677 3900677 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 38 40 0 ENST00000262367.5:c.419C>T p.Thr140Ile p.T140I ENST00000262367 NM_004380.2 140 aCc/aTc 0 -CRHR2 UCSF GRCh37 7 30702446 30702446 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 18 25 0 ENST00000348438.4:c.642C>T p.Ile214= p.I214= ENST00000348438 NM_001202475.1 214 atC/atT 0 -CRNN UCSF GRCh37 1 152384651 152384651 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 97 43 79 0 ENST00000271835.3:c.59G>A p.Arg20Lys p.R20K ENST00000271835 NM_016190.2 20 aGg/aAg 0 -CROCC UCSF GRCh37 1 17263217 17263217 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 17 11 0 ENST00000375541.5:c.1042C>T p.Leu348= p.L348= ENST00000375541 NM_014675.3 348 Ctg/Ttg 0 -CRTC2 UCSF GRCh37 1 153930932 153930932 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 18 9 0 ENST00000368633.1:c.42C>T p.Ala14= p.A14= ENST00000368633 NM_181715.2 14 gcC/gcT 0 -CRTC3 UCSF GRCh37 15 91184367 91184367 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 18 31 0 ENST00000268184.6:c.1587C>T p.Asp529= p.D529= ENST00000268184 529 gaC/gaT 0 -CRYGS UCSF GRCh37 3 186257318 186257318 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 31 38 0 ENST00000392499.2:c.90C>T p.Phe30= p.F30= ENST00000392499 NM_017541.2 30 ttC/ttT 0 -CSNK1A1L UCSF GRCh37 13 37678549 37678549 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 149 85 162 0 ENST00000379800.3:c.845G>A p.Arg282His p.R282H ENST00000379800 NM_145203.5 282 cGc/cAc 0 -CTBS UCSF GRCh37 1 85020795 85020795 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 45 77 0 ENST00000370630.5:c.1045C>T p.Arg349Trp p.R349W ENST00000370630 NM_004388.2 349 Cgg/Tgg 0 -CTNNA1 UCSF GRCh37 5 138223181 138223181 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 43 98 0 ENST00000302763.7:c.1146C>T p.Leu382= p.L382= ENST00000302763 NM_001903.2 382 ctC/ctT 0 -CTNNA2 UCSF GRCh37 2 79971605 79971605 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 21 33 0 ENST00000466387.1:c.195G>A p.Glu65= p.E65= ENST00000466387 65 gaG/gaA 0 -CTTNBP2 UCSF GRCh37 7 117417811 117417811 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 130 156 69 0 ENST00000160373.3:c.2532G>A p.Trp844Ter p.W844* ENST00000160373 NM_033427.2 844 tgG/tgA 0 -CTU2 UCSF GRCh37 16 88780546 88780546 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 117 26 27 0 ENST00000453996.2:c.1008C>T p.Ala336= p.A336= ENST00000453996 NM_001012759.1 336 gcC/gcT 0 -CUBN UCSF GRCh37 10 17126431 17126431 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 33 46 0 ENST00000377833.4:c.2140G>A p.Asp714Asn p.D714N ENST00000377833 NM_001081.3 714 Gac/Aac 0 -CUL9 UCSF GRCh37 6 43155750 43155750 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 18 55 0 ENST00000252050.4:c.1881G>A p.Lys627= p.K627= ENST00000252050 NM_015089.2 627 aaG/aaA 0 -CWC27 UCSF GRCh37 5 64096076 64096076 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 26 55 0 ENST00000381070.3:c.671G>A p.Ser224Asn p.S224N ENST00000381070 NM_005869.2 224 aGc/aAc 0 -CWF19L1 UCSF GRCh37 10 102016038 102016038 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 42 58 0 ENST00000354105.4:c.485G>A p.Gly162Glu p.G162E ENST00000354105 NM_018294.4 162 gGg/gAg 0 -CWH43 UCSF GRCh37 4 49032932 49032932 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 116 56 110 0 ENST00000226432.4:c.1463G>A p.Gly488Asp p.G488D ENST00000226432 NM_025087.2 488 gGt/gAt 0 -CWH43 UCSF GRCh37 4 49032978 49032978 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 58 117 0 ENST00000226432.4:c.1508+1G>A p.X503_splice ENST00000226432 NM_025087.2 0 -CXXC1 UCSF GRCh37 18 47812419 47812419 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 129 71 58 0 ENST00000412036.2:c.432G>A p.Pro144= p.P144= ENST00000412036 144 ccG/ccA 0 -CYB5R2 UCSF GRCh37 11 7686718 7686718 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 14 19 23 0 ENST00000533558.1:c.718C>T p.Pro240Ser p.P240S ENST00000533558 240 Cca/Tca 0 -CYFIP1 UCSF GRCh37 15 22999357 22999357 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 32 41 0 ENST00000313077.7:c.3229G>A p.Glu1077Lys p.E1077K ENST00000313077 NM_014608.2 1077 Gag/Aag 0 -ZFTRAF1 UCSF GRCh37 8 145689659 145689659 + intron_variant Intron DEL C C - NOVEL P05_Rec Untested WXS Illumina HiSeq 6 0 ENST00000438911.2:c.246+184del *82* ENST00000438911 NM_138496.1 0 -CYLC1 UCSF GRCh37 X 83128720 83128720 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 37 80 0 ENST00000329312.4:c.1004C>T p.Ala335Val p.A335V ENST00000329312 NM_021118.2 335 gCt/gTt 0 -CYLC1 UCSF GRCh37 X 83128100 83128100 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 25 41 0 ENST00000329312.4:c.384G>A p.Lys128= p.K128= ENST00000329312 NM_021118.2 128 aaG/aaA 0 -CYP1A1 UCSF GRCh37 15 75013789 75013789 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 31 58 0 ENST00000379727.3:c.1008C>T p.Asn336= p.N336= ENST00000379727 336 aaC/aaT 0 -CYP46A1 UCSF GRCh37 14 100184439 100184439 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 14 51 0 ENST00000261835.3:c.956C>T p.Ser319Phe p.S319F ENST00000261835 NM_006668.1 319 tCt/tTt 0 -CYP4X1 UCSF GRCh37 1 47501585 47501585 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 42 84 0 ENST00000371901.3:c.600G>A p.Glu200= p.E200= ENST00000371901 NM_178033.1 200 gaG/gaA 0 -DAGLA UCSF GRCh37 11 61495691 61495691 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 109 72 46 0 ENST00000257215.5:c.703G>A p.Asp235Asn p.D235N ENST00000257215 NM_006133.2 235 Gac/Aac 0 -DAO UCSF GRCh37 12 109290787 109290787 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 14 61 0 ENST00000228476.3:c.618C>T p.Asp206= p.D206= ENST00000228476 NM_001917.4 206 gaC/gaT 0 -DAPK1 UCSF GRCh37 9 90252979 90252979 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 25 67 0 ENST00000408954.3:c.406G>A p.Ala136Thr p.A136T ENST00000408954 NM_004938.2 136 Gcc/Acc 0 -DAXX UCSF GRCh37 6 33289312 33289312 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 94 61 67 0 ENST00000374542.5:c.240C>T p.Asp80= p.D80= ENST00000374542 NM_001141970.1 80 gaC/gaT 0 -DBH UCSF GRCh37 9 136513028 136513028 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0020,snp132_rs75215331 P05_Rec Untested WXS Illumina HiSeq 52 21 30 0 ENST00000393056.2:c.1085C>T p.Ala362Val p.A362V ENST00000393056 NM_000787.3 362 gCg/gTg 0 -DBH UCSF GRCh37 9 136523486 136523486 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 172 61 33 0 ENST00000393056.2:c.1771G>A p.Glu591Lys p.E591K ENST00000393056 NM_000787.3 591 Gag/Aag 0 -DCAF17 UCSF GRCh37 2 172337616 172337616 + missense_variant Missense_Mutation SNP A A T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 47 84 0 ENST00000375255.3:c.1555A>T p.Ser519Cys p.S519C ENST00000375255 NM_025000.3 519 Agc/Tgc 0 -DCAF4 UCSF GRCh37 14 73406608 73406608 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 17 6 12 0 ENST00000358377.2:c.191C>T p.Pro64Leu p.P64L ENST00000358377 NM_001163509.1 64 cCa/cTa 0 -DCAF4 UCSF GRCh37 14 73425453 73425453 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 56 54 0 ENST00000358377.2:c.1428G>A p.Arg476= p.R476= ENST00000358377 NM_001163509.1 476 cgG/cgA 0 -DCAF4L2 UCSF GRCh37 8 88885864 88885864 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 122 66 75 0 ENST00000319675.3:c.336C>T p.Leu112= p.L112= ENST00000319675 NM_152418.3 112 ctC/ctT 0 -DCAF5 UCSF GRCh37 14 69520872 69520872 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 25 41 0 ENST00000341516.5:c.2531C>T p.Pro844Leu p.P844L ENST00000341516 NM_003861.2 844 cCt/cTt 0 -DCAF6 UCSF GRCh37 1 168035641 168035641 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 34 16 0 ENST00000367840.3:c.2623G>A p.Asp875Asn p.D875N ENST00000367840 NM_001198956.1 875 Gac/Aac 0 -DCAF7 UCSF GRCh37 17 61661012 61661012 + intron_variant Intron SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 94 57 98 0 ENST00000415273.2:c.139-1561G>A *47* ENST00000415273 0 -DCC UCSF GRCh37 18 50731599 50731599 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 167 86 153 0 ENST00000442544.2:c.1587G>A p.Gly529= p.G529= ENST00000442544 NM_005215.3 529 ggG/ggA 0 -DCHS2 UCSF GRCh37 4 155157309 155157309 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 24 46 69 0 ENST00000357232.4:c.7130G>A p.Gly2377Glu p.G2377E ENST00000357232 NM_017639.3 2377 gGg/gAg 0 -DDAH2 UCSF GRCh37 6 31696918 31696918 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 79 56 43 0 ENST00000375789.2:c.21G>A p.Gly7= p.G7= ENST00000375789 7 ggG/ggA 0 -DDB1 UCSF GRCh37 11 61089873 61089873 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 88 36 90 0 ENST00000301764.7:c.1017C>T p.Asp339= p.D339= ENST00000301764 NM_001923.4 339 gaC/gaT 0 -DDHD1 UCSF GRCh37 14 53513646 53513646 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 39 34 58 0 ENST00000323669.5:c.2543A>C p.Asp848Ala p.D848A ENST00000323669 NM_001160148.1 848 gAt/gCt 0 -DDN UCSF GRCh37 12 49390988 49390988 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 7 11 0 ENST00000421952.2:c.1671C>T p.Asn557= p.N557= ENST00000421952 NM_015086.1 557 aaC/aaT 0 -DDX10 UCSF GRCh37 11 108547856 108547856 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 115 51 80 0 ENST00000322536.3:c.423G>A p.Gly141= p.G141= ENST00000322536 NM_004398.2 141 ggG/ggA 0 -DDX11 UCSF GRCh37 12 31237978 31237978 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.161,1000g2011may_all_0.2074,snp132_rs74087925 P05_Rec Untested WXS Illumina HiSeq 37 14 16 1 ENST00000407793.2:c.556C>T p.Arg186Trp p.R186W ENST00000407793 NM_030653.3 186 Cgg/Tgg 0 -DDX11 UCSF GRCh37 12 31236773 31236773 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 86 122 0 ENST00000407793.2:c.171G>A p.Gly57= p.G57= ENST00000407793 NM_030653.3 57 ggG/ggA 0 -DDX39A UCSF GRCh37 19 14520440 14520440 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 46 44 1 ENST00000242776.4:c.882G>A p.Lys294= p.K294= ENST00000242776 NM_005804.3 294 aaG/aaA 0 -DDX42 UCSF GRCh37 17 61894274 61894274 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 12 52 0 ENST00000578681.1:c.2060C>T p.Pro687Leu p.P687L ENST00000578681 NM_007372.3 687 cCt/cTt 0 -DDX42 UCSF GRCh37 17 61894288 61894288 + missense_variant Missense_Mutation SNP A A T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 11 47 0 ENST00000578681.1:c.2074A>T p.Met692Leu p.M692L ENST00000578681 NM_007372.3 692 Atg/Ttg 0 -DDX55 UCSF GRCh37 12 124093278 124093278 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 119 47 103 0 ENST00000238146.4:c.453G>A p.Arg151= p.R151= ENST00000238146 NM_020936.1 151 agG/agA 0 -DEM1 UCSF GRCh37 1 40980565 40980565 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 51 87 0 ENST00000372703.1:c.349G>A p.Gly117Ser p.G117S ENST00000372703 117 Ggt/Agt 0 -DENND1A UCSF GRCh37 9 126554866 126554866 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 20 34 0 ENST00000373624.2:c.132G>A p.Gln44= p.Q44= ENST00000373624 NM_020946.1 44 caG/caA 0 -DENND2C UCSF GRCh37 1 115151491 115151491 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 52 24 71 0 ENST00000393274.1:c.1373G>A p.Arg458His p.R458H ENST00000393274 NM_001256404.1 458 cGc/cAc 0 -DENMT-ND3 UCSF GRCh37 8 142175334 142175334 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 100 47 92 0 ENST00000262585.2:c.1259G>A p.Arg420Lys p.R420K ENST00000262585 NM_014957.2 420 aGg/aAg 0 -DENMT-ND3 UCSF GRCh37 8 142151382 142151382 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 44 39 0 ENST00000262585.2:c.342C>T p.Ser114= p.S114= ENST00000262585 NM_014957.2 114 tcC/tcT 0 -DENND4C UCSF GRCh37 9 19372071 19372071 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 73 94 0 ENST00000602925.1:c.5630G>A p.Ser1877Asn p.S1877N ENST00000602925 NM_017925.5 1877 aGt/aAt 0 -DGCR2 UCSF GRCh37 22 19026602 19026602 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 28 26 0 ENST00000263196.7:c.1429C>T p.Leu477= p.L477= ENST00000263196 NM_001184781.1 477 Ctg/Ttg 0 -DHCR7 UCSF GRCh37 11 71149986 71149986 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 43 37 21 0 ENST00000355527.3:c.770C>T p.Ala257Val p.A257V ENST00000355527 NM_001360.2 257 gCg/gTg 0 -DHRS2 UCSF GRCh37 14 24108207 24108207 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 110 110 71 0 ENST00000344777.7:c.134C>T p.Thr45Ile p.T45I ENST00000344777 NM_182908.4 45 aCc/aTc 0 -DHTKD1 UCSF GRCh37 10 12136143 12136143 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 31 72 0 ENST00000263035.4:c.1231C>T p.Leu411= p.L411= ENST00000263035 NM_018706.6 411 Ctg/Ttg 0 -DHX37 UCSF GRCh37 12 125460028 125460028 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 19 23 0 ENST00000308736.2:c.917C>T p.Pro306Leu p.P306L ENST00000308736 NM_032656.3 306 cCc/cTc 0 -DIAPH1 UCSF GRCh37 5 140953776 140953776 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 13 20 27 0 ENST00000398557.4:c.1642-1G>A p.X548_splice ENST00000398557 NM_005219.4 0 -DIDO1 UCSF GRCh37 20 61528154 61528154 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 92 63 48 0 ENST00000266070.4:c.1783C>T p.Pro595Ser p.P595S ENST00000266070 NM_033081.2 595 Ccc/Tcc 0 -DIO1 UCSF GRCh37 1 54371821 54371821 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 22 40 0 ENST00000361921.3:c.535G>A p.Asp179Asn p.D179N ENST00000361921 NM_213593.3 179 Gat/Aat 0 -DIO3 UCSF GRCh37 14 102027864 102027864 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 18 16 0 ENST00000510508.4:c.31G>A p.Val11Ile p.V11I ENST00000510508 11 Gtc/Atc 0 -DIP2A UCSF GRCh37 21 47978178 47978178 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 32 17 0 ENST00000417564.2:c.3841G>A p.Val1281Ile p.V1281I ENST00000417564 1281 Gtc/Atc 0 -DIP2C UCSF GRCh37 10 518451 518451 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 100 55 34 0 ENST00000280886.6:c.196G>A p.Val66Ile p.V66I ENST00000280886 NM_014974.2 66 Gtc/Atc 0 -DISC1 UCSF GRCh37 1 232144796 232144796 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 46 74 0 ENST00000439617.2:c.2307+1G>A p.X769_splice ENST00000439617 NM_001164540.1 0 -DLC1 UCSF GRCh37 8 12957327 12957327 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 50 57 0 ENST00000276297.4:c.2519C>T p.Thr840Met p.T840M ENST00000276297 NM_182643.2 840 aCg/aTg 0 -DLG3 UCSF GRCh37 X 69670031 69670031 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 16 15 18 0 ENST00000374360.3:c.716G>A p.Ser239Asn p.S239N ENST00000374360 NM_021120.3 239 aGc/aAc 0 -DMXL2 UCSF GRCh37 15 51773611 51773611 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 167 89 115 0 ENST00000543779.2:c.5692C>T p.Pro1898Ser p.P1898S ENST00000543779 1898 Cct/Tct 0 -DNAAF1 UCSF GRCh37 16 84211350 84211350 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 114 54 44 0 ENST00000378553.5:c.2081C>T p.Ala694Val p.A694V ENST00000378553 NM_178452.4 694 gCc/gTc 0 -DNAH1 UCSF GRCh37 3 52430684 52430684 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.003,1000g2011may_all_0.0054 P05_Rec Untested WXS Illumina HiSeq 88 21 83 0 ENST00000420323.2:c.11481C>T p.Asn3827= p.N3827= ENST00000420323 NM_015512.4 3827 aaC/aaT 0 -DNAH10 UCSF GRCh37 12 124285920 124285920 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 146 62 102 0 ENST00000409039.3:c.2201C>T p.Ser734Phe p.S734F ENST00000409039 NM_207437.3 734 tCc/tTc 0 -DNAH10 UCSF GRCh37 12 124401178 124401178 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 155 56 99 0 ENST00000409039.3:c.10543G>A p.Glu3515Lys p.E3515K ENST00000409039 NM_207437.3 3515 Gaa/Aaa 0 -DNAH10 UCSF GRCh37 12 124352656 124352656 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 20 33 0 ENST00000409039.3:c.7155G>A p.Gly2385= p.G2385= ENST00000409039 NM_207437.3 2385 ggG/ggA 0 -DNAH12 UCSF GRCh37 3 57356463 57356463 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 111 33 102 0 ENST00000344804.4:c.727C>T p.Pro243Ser p.P243S ENST00000344804 243 Ccc/Tcc 0 -DNAH14 UCSF GRCh37 1 225152200 225152200 + synonymous_variant Silent SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 63 42 60 0 ENST00000400952.3:c.387G>C p.Val129= p.V129= ENST00000400952 NM_001145154.1 129 gtG/gtC 0 -DNAH17 UCSF GRCh37 17 76554320 76554320 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 42 128 0 ENST00000389840.5:c.2048G>A p.Arg683Lys p.R683K ENST00000389840 683 aGa/aAa 0 -DNAH17 UCSF GRCh37 17 76421649 76421649 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 38 17 0 ENST00000389840.5:c.12988C>T p.Leu4330Phe p.L4330F ENST00000389840 4330 Ctc/Ttc 0 -DNAH2 UCSF GRCh37 17 7691239 7691239 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 46 51 0 ENST00000572933.1:c.6665G>A p.Cys2222Tyr p.C2222Y ENST00000572933 2222 tGc/tAc 0 -DNAH5 UCSF GRCh37 5 13891220 13891220 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 86 56 98 0 ENST00000265104.4:c.2442G>A p.Glu814= p.E814= ENST00000265104 NM_001369.2 814 gaG/gaA 0 -DNAH6 UCSF GRCh37 2 84931258 84931258 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 52 105 0 ENST00000389394.3:c.8297C>T p.Ala2766Val p.A2766V ENST00000389394 NM_001370.1 2766 gCt/gTt 0 -DNAH6 UCSF GRCh37 2 84848345 84848345 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 31 43 0 ENST00000389394.3:c.3823G>A p.Gly1275Ser p.G1275S ENST00000389394 NM_001370.1 1275 Ggc/Agc 0 -DNAH6 UCSF GRCh37 2 84915694 84915694 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 30 61 0 ENST00000389394.3:c.7269G>A p.Gln2423= p.Q2423= ENST00000389394 NM_001370.1 2423 caG/caA 0 -DNAH7 UCSF GRCh37 2 196738340 196738340 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 38 71 0 ENST00000312428.6:c.6365C>T p.Ser2122Phe p.S2122F ENST00000312428 NM_018897.2 2122 tCc/tTc 0 -DNAJC18 UCSF GRCh37 5 138755754 138755754 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 24 39 110 0 ENST00000302060.5:c.940G>A p.Glu314Lys p.E314K ENST00000302060 NM_152686.3 314 Gag/Aag 0 -DNAJC21 UCSF GRCh37 5 34945016 34945016 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 187 109 172 0 ENST00000382021.2:c.1028C>T p.Ala343Val p.A343V ENST00000382021 NM_194283.3 343 gCc/gTc 0 -DOCK11 UCSF GRCh37 X 117752562 117752562 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 42 82 0 ENST00000276202.7:c.3342C>T p.Phe1114= p.F1114= ENST00000276202 NM_144658.3 1114 ttC/ttT 0 -DOCK4 UCSF GRCh37 7 111387342 111387342 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 240 81 201 0 ENST00000437633.1:c.4547G>A p.Gly1516Asp p.G1516D ENST00000437633 NM_014705.3 1516 gGc/gAc 0 -DOCK4 UCSF GRCh37 7 111382189 111382189 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 161 78 123 0 ENST00000437633.1:c.4651-1G>A p.X1551_splice ENST00000437633 NM_014705.3 0 -DOCK6 UCSF GRCh37 19 11363181 11363181 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 125 68 134 0 ENST00000294618.7:c.354G>A p.Glu118= p.E118= ENST00000294618 NM_020812.3 118 gaG/gaA 0 -DOCK6 UCSF GRCh37 19 11325298 11325298 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 27 61 0 ENST00000294618.7:c.4134C>T p.Ala1378= p.A1378= ENST00000294618 NM_020812.3 1378 gcC/gcT 0 -DOCK6 UCSF GRCh37 19 11339673 11339673 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 13 17 0 ENST00000294618.7:c.2757C>T p.Ser919= p.S919= ENST00000294618 NM_020812.3 919 agC/agT 0 -DOLPP1 UCSF GRCh37 9 131847523 131847523 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 198 66 88 0 ENST00000372546.4:c.300C>T p.Pro100= p.P100= ENST00000372546 NM_020438.4 100 ccC/ccT 0 -DPH5 UCSF GRCh37 1 101458296 101458296 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 34 65 0 ENST00000370109.3:c.531G>A p.Lys177= p.K177= ENST00000370109 NM_001077395.1 177 aaG/aaA 0 -DPP4 UCSF GRCh37 2 162929997 162929997 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 35 36 0 ENST00000360534.3:c.7-1G>A p.X3_splice ENST00000360534 NM_001935.3 0 -DPP6 UCSF GRCh37 7 154679444 154679444 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 224 88 198 0 ENST00000377770.3:c.2304G>A p.Glu768= p.E768= ENST00000377770 768 gaG/gaA 0 -DPYD UCSF GRCh37 1 97544641 97544641 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 116 67 135 0 ENST00000370192.3:c.2969C>T p.Thr990Ile p.T990I ENST00000370192 NM_000110.3 990 aCt/aTt 0 -DRAP1 UCSF GRCh37 11 65688075 65688075 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 43 25 0 ENST00000312515.2:c.365G>A p.Gly122Asp p.G122D ENST00000312515 NM_006442.3 122 gGt/gAt 0 -DRD5 UCSF GRCh37 4 9784541 9784541 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 147 80 62 0 ENST00000304374.2:c.888G>A p.Lys296= p.K296= ENST00000304374 NM_000798.4 296 aaG/aaA 0 -DRG2 UCSF GRCh37 17 18005276 18005276 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 18 11 14 0 ENST00000225729.3:c.771C>T p.Asp257= p.D257= ENST00000225729 NM_001388.4 257 gaC/gaT 0 -DSC2 UCSF GRCh37 18 28672242 28672242 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 30 70 0 ENST00000280904.6:c.176C>T p.Thr59Ile p.T59I ENST00000280904 NM_024422.3 59 aCa/aTa 0 -DSCR6 UCSF GRCh37 21 38390293 38390293 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 15 27 0 ENST00000329553.2:c.359C>T p.Ala120Val p.A120V ENST00000329553 NM_018962.2 120 gCt/gTt 0 -DSG2 UCSF GRCh37 18 29121213 29121213 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 24 24 47 0 ENST00000261590.8:c.1937C>T p.Pro646Leu p.P646L ENST00000261590 NM_001943.3 646 cCc/cTc 0 -DST UCSF GRCh37 6 56362671 56362671 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 131 62 141 0 ENST00000244364.6:c.12208G>A p.Asp4070Asn p.D4070N ENST00000244364 NM_015548.4 4070 Gat/Aat 0 -DST UCSF GRCh37 6 56365995 56365995 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 129 64 136 0 ENST00000244364.6:c.11910C>T p.Phe3970= p.F3970= ENST00000244364 NM_015548.4 3970 ttC/ttT 0 -DTNA UCSF GRCh37 18 32455243 32455243 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 24 47 0 ENST00000598334.1:c.1523C>T p.Thr508Ile p.T508I ENST00000598334 NM_001198938.1 508 aCc/aTc 0 -DTX1 UCSF GRCh37 12 113496108 113496108 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 25 16 0 ENST00000257600.3:c.111G>A p.Trp37Ter p.W37* ENST00000257600 NM_004416.2 37 tgG/tgA 0 -DTX2 UCSF GRCh37 7 76132849 76132849 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 21 48 0 ENST00000324432.5:c.1496G>A p.Gly499Asp p.G499D ENST00000324432 NM_020892.2 499 gGc/gAc 0 -DUOX1 UCSF GRCh37 15 45434294 45434294 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 31 50 0 ENST00000321429.4:c.1806C>T p.Leu602= p.L602= ENST00000321429 NM_017434.3 602 ctC/ctT 0 -DUOXA2 UCSF GRCh37 15 45408829 45408829 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 86 59 24 0 ENST00000323030.5:c.456C>T p.Asp152= p.D152= ENST00000323030 NM_207581.3 152 gaC/gaT 0 -DUSP16 UCSF GRCh37 12 12633232 12633232 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 44 91 0 ENST00000228862.2:c.740G>A p.Gly247Glu p.G247E ENST00000228862 NM_030640.2 247 gGg/gAg 0 -DVL1 UCSF GRCh37 1 1273693 1273693 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 31 21 0 ENST00000378891.5:c.1388C>T p.Thr463Ile p.T463I ENST00000378891 NM_004421.2 463 aCc/aTc 0 -DVL3 UCSF GRCh37 3 183887949 183887949 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 26 24 0 ENST00000313143.3:c.1654G>A p.Gly552Ser p.G552S ENST00000313143 NM_004423.3 552 Ggc/Agc 0 -DYNC1H1 UCSF GRCh37 14 102515847 102515847 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 45 27 0 ENST00000360184.4:c.13443C>T p.Asp4481= p.D4481= ENST00000360184 NM_001376.4 4481 gaC/gaT 0 -DYRK4 UCSF GRCh37 12 4719397 4719397 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 26 61 0 ENST00000540757.2:c.1092G>A p.Met364Ile p.M364I ENST00000540757 NM_003845.1 364 atG/atA 0 -DZIP1 UCSF GRCh37 13 96239920 96239920 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 33 49 0 ENST00000347108.3:c.2091C>T p.Ser697= p.S697= ENST00000347108 697 tcC/tcT 0 -E2F7 UCSF GRCh37 12 77417858 77417858 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 29 67 0 ENST00000322886.7:c.2673C>T p.Asn891= p.N891= ENST00000322886 NM_203394.2 891 aaC/aaT 0 -ECM1 UCSF GRCh37 1 150483675 150483675 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 104 53 84 0 ENST00000369049.4:c.789+1G>A p.X263_splice ENST00000369049 NM_001202858.1 0 -ECT2L UCSF GRCh37 6 139164281 139164281 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 36 85 0 ENST00000423192.1:c.508C>T p.Pro170Ser p.P170S ENST00000423192 170 Ccc/Tcc 0 -EDEM1 UCSF GRCh37 3 5252860 5252860 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 195 70 126 0 ENST00000256497.4:c.1639G>A p.Glu547Lys p.E547K ENST00000256497 NM_014674.2 547 Gag/Aag 0 -EDEM3 UCSF GRCh37 1 184679682 184679682 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 40 82 0 ENST00000318130.8:c.1692-1G>A p.X564_splice ENST00000318130 NM_025191.3 0 -EDF1 UCSF GRCh37 9 139758304 139758304 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 27 63 0 ENST00000224073.1:c.98G>A p.Arg33Lys p.R33K ENST00000224073 NM_001281298.1 33 aGa/aAa 0 -EEA1 UCSF GRCh37 12 93196237 93196237 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 33 38 0 ENST00000322349.8:c.2613C>T p.Asn871= p.N871= ENST00000322349 NM_003566.3 871 aaC/aaT 0 -EFNA1 UCSF GRCh37 1 155106219 155106219 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 58 79 0 ENST00000368407.3:c.468G>A p.Gln156= p.Q156= ENST00000368407 NM_004428.2 156 caG/caA 0 -EFNB2 UCSF GRCh37 13 107145608 107145608 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 66 57 0 ENST00000245323.4:c.782C>T p.Pro261Leu p.P261L ENST00000245323 NM_004093.3 261 cCg/cTg 0 -EHMT1 UCSF GRCh37 9 140672342 140672342 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 254 89 112 0 ENST00000460843.1:c.2027G>A p.Gly676Glu p.G676E ENST00000460843 NM_024757.4 676 gGg/gAg 0 -EHMT1 UCSF GRCh37 9 140652417 140652417 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 130 57 74 0 ENST00000460843.1:c.1455C>T p.Asp485= p.D485= ENST00000460843 NM_024757.4 485 gaC/gaT 0 -EHMT2 UCSF GRCh37 6 31864759 31864759 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 148 18 47 0 ENST00000375537.4:c.50C>A p.Ala17Asp p.A17D ENST00000375537 NM_006709.3 17 gCc/gAc 0 -EI24 UCSF GRCh37 11 125445200 125445200 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 8 6 16 0 ENST00000278903.6:c.84G>A p.Lys28= p.K28= ENST00000278903 NM_004879.3 28 aaG/aaA 0 -EIF2AK1 UCSF GRCh37 7 6066478 6066478 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 46 98 0 ENST00000199389.6:c.1645C>T p.Leu549Phe p.L549F ENST00000199389 NM_001134335.1 549 Ctc/Ttc 0 -EIF2S2 UCSF GRCh37 20 32693260 32693260 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 44 94 0 ENST00000374980.2:c.107C>T p.Thr36Ile p.T36I ENST00000374980 NM_003908.3 36 aCc/aTc 0 -EIF3B UCSF GRCh37 7 2418387 2418387 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 27 6 30 0 ENST00000360876.4:c.2218T>C p.Ser740Pro p.S740P ENST00000360876 NM_001037283.1 740 Tcc/Ccc 0 -EIF3K UCSF GRCh37 19 39123092 39123092 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 147 64 153 0 ENST00000248342.4:c.377A>G p.Asp126Gly p.D126G ENST00000248342 NM_013234.2 126 gAc/gGc 0 -EIF6 UCSF GRCh37 20 33872225 33872225 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 201 101 39 0 ENST00000374450.3:c.66C>T p.Thr22= p.T22= ENST00000374450 NM_002212.3 22 acC/acT 0 -ELL UCSF GRCh37 19 18569095 18569095 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 23 36 0 ENST00000262809.4:c.789C>T p.Asp263= p.D263= ENST00000262809 NM_006532.3 263 gaC/gaT 0 -ELMO1 UCSF GRCh37 7 37251060 37251060 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 23 63 0 ENST00000310758.4:c.1017C>T p.Asn339= p.N339= ENST00000310758 NM_014800.10 339 aaC/aaT 0 -EMILIN2 UCSF GRCh37 18 2913251 2913251 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 48 31 39 0 ENST00000254528.3:c.3011G>A p.Gly1004Asp p.G1004D ENST00000254528 NM_032048.2 1004 gGc/gAc 0 -EML5 UCSF GRCh37 14 89160752 89160752 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 100 46 92 0 ENST00000554922.1:c.2439-1G>A p.X813_splice ENST00000554922 NM_183387.2 0 -ENAM UCSF GRCh37 4 71508053 71508053 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 41 90 0 ENST00000396073.3:c.910G>A p.Gly304Arg p.G304R ENST00000396073 NM_031889.2 304 Gga/Aga 0 -ENAM UCSF GRCh37 4 71508405 71508405 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 110 78 103 0 ENST00000396073.3:c.1262G>A p.Gly421Asp p.G421D ENST00000396073 NM_031889.2 421 gGt/gAt 0 -ENC1 UCSF GRCh37 5 73931072 73931072 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 28 39 0 ENST00000302351.4:c.1239G>A p.Gln413= p.Q413= ENST00000302351 NM_003633.3 413 caG/caA 0 -ENO2 UCSF GRCh37 12 7030820 7030820 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 43 72 0 ENST00000535366.1:c.942G>A p.Gln314= p.Q314= ENST00000535366 314 caG/caA 0 -ENPEP UCSF GRCh37 4 111452380 111452380 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 20 24 0 ENST00000265162.5:c.1754G>A p.Trp585Ter p.W585* ENST00000265162 NM_001977.3 585 tGg/tAg 0 -ENPP2 UCSF GRCh37 8 120569856 120569856 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 100 57 61 0 ENST00000259486.6:c.2653C>T p.Leu885Phe p.L885F ENST00000259486 NM_006209.4 885 Ctc/Ttc 0 -ENPP7 UCSF GRCh37 17 77707389 77707389 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 61 28 27 0 ENST00000328313.5:c.337C>T p.Leu113= p.L113= ENST00000328313 NM_178543.3 113 Ctg/Ttg 0 -EP400 UCSF GRCh37 12 132466904 132466904 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 152 57 53 0 ENST00000389561.2:c.1810C>T p.Pro604Ser p.P604S ENST00000389561 NM_015409.4 604 Cct/Tct 0 -EPB41L1 UCSF GRCh37 20 34785820 34785820 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 27 32 0 ENST00000338074.2:c.1525G>A p.Ala509Thr p.A509T ENST00000338074 NM_012156.2 509 Gcc/Acc 0 -EPB41L4B UCSF GRCh37 9 111965992 111965992 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 67 40 89 0 ENST00000374566.3:c.1897C>T p.Pro633Ser p.P633S ENST00000374566 NM_019114.3 633 Ccg/Tcg 0 -EPB42 UCSF GRCh37 15 43495332 43495332 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 40 62 0 ENST00000300215.3:c.1850G>A p.Arg617Lys p.R617K ENST00000300215 617 aGa/aAa 0 -EPHA10 UCSF GRCh37 1 38192817 38192817 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 24 15 0 ENST00000373048.4:c.1729C>T p.Leu577Phe p.L577F ENST00000373048 NM_001099439.1 577 Ctc/Ttc 0 -EPHA10 UCSF GRCh37 1 38186467 38186467 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 7 20 0 ENST00000373048.4:c.2196C>T p.Asp732= p.D732= ENST00000373048 NM_001099439.1 732 gaC/gaT 0 -EPHA6 UCSF GRCh37 3 96945231 96945231 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 130 68 123 0 ENST00000389672.5:c.1238C>T p.Ala413Val p.A413V ENST00000389672 NM_001080448.2 413 gCt/gTt 0 -EPM2AIP1 UCSF GRCh37 3 37033850 37033850 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 256 97 124 0 ENST00000322716.5:c.719G>A p.Arg240Lys p.R240K ENST00000322716 NM_014805.3 240 aGa/aAa 0 -EPN2 UCSF GRCh37 17 19232186 19232186 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 69 31 44 0 ENST00000314728.5:c.1310C>T p.Pro437Leu p.P437L ENST00000314728 NM_014964.4 437 cCc/cTc 0 -EPOR UCSF GRCh37 19 11493890 11493890 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 26 26 0 ENST00000222139.6:c.134G>A p.Arg45Gln p.R45Q ENST00000222139 NM_000121.3 45 cGg/cAg 0 -EPOR UCSF GRCh37 19 11492447 11492447 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 23 13 0 ENST00000222139.6:c.506C>T p.Pro169Leu p.P169L ENST00000222139 NM_000121.3 169 cCg/cTg 0 -EPS8L1 UCSF GRCh37 19 55597464 55597464 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 57 39 0 ENST00000201647.6:c.1554G>A p.Arg518= p.R518= ENST00000201647 NM_133180.2 518 cgG/cgA 0 -EPS8L3 UCSF GRCh37 1 110293937 110293937 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 10 29 0 ENST00000369805.3:c.1603G>A p.Val535Ile p.V535I ENST00000369805 NM_139053.2 535 Gtc/Atc 0 -ERBB2IP UCSF GRCh37 5 65350348 65350348 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 46 75 0 ENST00000506030.1:c.3202G>A p.Ala1068Thr p.A1068T ENST00000506030 1068 Gca/Aca 0 -ERBB4 UCSF GRCh37 2 212426739 212426739 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 49 71 0 ENST00000342788.4:c.2376C>T p.Ile792= p.I792= ENST00000342788 NM_005235.2 792 atC/atT 0 -ERC2 UCSF GRCh37 3 56330151 56330151 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 207 133 160 0 ENST00000288221.6:c.970G>A p.Asp324Asn p.D324N ENST00000288221 NM_015576.1 324 Gat/Aat 0 -ERCC6 UCSF GRCh37 10 50732465 50732465 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 52 100 0 ENST00000355832.5:c.1011G>A p.Lys337= p.K337= ENST00000355832 NM_000124.3 337 aaG/aaA 0 -ERF UCSF GRCh37 19 42752920 42752920 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 155 107 82 0 ENST00000222329.4:c.1344G>A p.Glu448= p.E448= ENST00000222329 NM_006494.2 448 gaG/gaA 0 -ERG UCSF GRCh37 21 39817432 39817432 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 23 39 0 ENST00000288319.7:c.131C>T p.Thr44Ile p.T44I ENST00000288319 NM_182918.3 44 aCt/aTt 0 -ERGIC3 UCSF GRCh37 20 34142816 34142816 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 49 62 0 ENST00000357394.4:c.702C>T p.Ile234= p.I234= ENST00000357394 NM_198398.1 234 atC/atT 0 -ERN1 UCSF GRCh37 17 62130161 62130161 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 34 68 0 ENST00000433197.3:c.2232C>T p.Ser744= p.S744= ENST00000433197 NM_001433.3 744 agC/agT 0 -ESCO1 UCSF GRCh37 18 19147941 19147941 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 39 103 0 ENST00000269214.5:c.1645G>A p.Gly549Ser p.G549S ENST00000269214 NM_052911.2 549 Ggt/Agt 0 -ESF1 UCSF GRCh37 20 13753186 13753186 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 40 63 0 ENST00000202816.1:c.1225C>T p.Pro409Ser p.P409S ENST00000202816 NM_001276380.1 409 Cct/Tct 0 -ESPL1 UCSF GRCh37 12 53677943 53677943 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 70 47 83 0 ENST00000257934.4:c.3179C>T p.Ser1060Phe p.S1060F ENST00000257934 NM_012291.4 1060 tCt/tTt 0 -ESPL1 UCSF GRCh37 12 53687255 53687255 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 15 31 0 ENST00000257934.4:c.6360G>A p.Arg2120= p.R2120= ENST00000257934 NM_012291.4 2120 cgG/cgA 0 -ESPNL UCSF GRCh37 2 239025622 239025622 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 16 19 26 0 ENST00000343063.3:c.934G>A p.Glu312Lys p.E312K ENST00000343063 NM_194312.2 312 Gag/Aag 0 -ESR2 UCSF GRCh37 14 64701863 64701863 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 55 9 27 0 ENST00000341099.4:c.1231T>G p.Tyr411Asp p.Y411D ENST00000341099 NM_001437.2 411 Tac/Gac 0 -ESR2 UCSF GRCh37 14 64701834 64701834 + synonymous_variant Silent SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 59 15 36 0 ENST00000341099.4:c.1260T>G p.Ala420= p.A420= ENST00000341099 NM_001437.2 420 gcT/gcG 0 -ESYT3 UCSF GRCh37 3 138189831 138189831 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 21 51 0 ENST00000389567.4:c.1703G>A p.Gly568Asp p.G568D ENST00000389567 NM_031913.3 568 gGc/gAc 0 -EXT2 UCSF GRCh37 11 44193294 44193294 + splice_donor_variant Splice_Site SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 28 59 109 0 ENST00000395673.3:c.1404+2T>C p.X468_splice ENST00000395673 NM_000401.3 0 -EZH2 UCSF GRCh37 7 148544360 148544360 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 278 87 169 0 ENST00000320356.2:c.31G>A p.Gly11Arg p.G11R ENST00000320356 NM_004456.4 11 Gga/Aga 0 -F2 UCSF GRCh37 11 46750944 46750944 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 14 26 36 0 ENST00000311907.5:c.1487G>A p.Gly496Glu p.G496E ENST00000311907 NM_000506.3 496 gGa/gAa 0 -F9 UCSF GRCh37 X 138619538 138619538 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 29 29 0 ENST00000218099.2:c.270G>A p.Gln90= p.Q90= ENST00000218099 NM_000133.3 90 caG/caA 0 -FA2H UCSF GRCh37 16 74750431 74750431 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 38 9 11 0 ENST00000219368.3:c.853T>C p.Tyr285His p.Y285H ENST00000219368 NM_024306.4 285 Tac/Cac 0 -FABP7 UCSF GRCh37 6 123104903 123104903 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 44 54 0 ENST00000368444.3:c.390G>A p.Glu130= p.E130= ENST00000368444 NM_001446.3 130 gaG/gaA 0 -FAF2 UCSF GRCh37 5 175919294 175919294 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 21 34 48 0 ENST00000261942.6:c.444G>A p.Gly148= p.G148= ENST00000261942 NM_014613.2 148 ggG/ggA 0 -FAM109A UCSF GRCh37 12 111801103 111801103 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 12 13 0 ENST00000361483.3:c.168G>A p.Gly56= p.G56= ENST00000361483 NM_001177996.1 56 ggG/ggA 0 -FAM109B UCSF GRCh37 22 42473561 42473561 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 76 45 0 ENST00000321753.3:c.264C>T p.Ala88= p.A88= ENST00000321753 NM_001002034.2 88 gcC/gcT 0 -FAM125A UCSF GRCh37 19 17534588 17534588 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 22 24 0 ENST00000317040.7:c.620C>T p.Ser207Phe p.S207F ENST00000317040 207 tCc/tTc 0 -FAM178A UCSF GRCh37 10 102676714 102676714 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 15 42 76 0 ENST00000370269.3:c.572G>A p.Gly191Asp p.G191D ENST00000370269 NM_001136123.1 191 gGc/gAc 0 -FAM179B UCSF GRCh37 14 45432024 45432024 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 84 69 63 0 ENST00000361577.3:c.400G>A p.Glu134Lys p.E134K ENST00000361577 NM_015091.2 134 Gaa/Aaa 0 -FAM186B UCSF GRCh37 12 49993278 49993278 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 17 31 0 ENST00000257894.2:c.2145C>T p.Ile715= p.I715= ENST00000257894 NM_032130.2 715 atC/atT 0 -FAM190A UCSF GRCh37 4 91229440 91229440 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 25 50 0 ENST00000509176.1:c.5G>A p.Gly2Glu p.G2E ENST00000509176 NM_001145065.1 2 gGg/gAg 0 -FAM198A UCSF GRCh37 3 43073791 43073791 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 101 28 23 0 ENST00000430121.2:c.36G>A p.Lys12= p.K12= ENST00000430121 NM_001129908.2 12 aaG/aaA 0 -FAM19A3 UCSF GRCh37 1 113266678 113266678 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 39 20 24 0 ENST00000369630.3:c.377C>T p.Ala126Val p.A126V ENST00000369630 126 gCc/gTc 0 -FAM208A UCSF GRCh37 3 56675640 56675640 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 98 57 105 0 ENST00000493960.2:c.2356G>A p.Asp786Asn p.D786N ENST00000493960 NM_001112736.1 786 Gat/Aat 0 -FAM208B UCSF GRCh37 10 5772723 5772723 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 134 85 124 0 ENST00000328090.5:c.761C>T p.Ser254Leu p.S254L ENST00000328090 NM_017782.4 254 tCa/tTa 0 -FAM20B UCSF GRCh37 1 179013332 179013332 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 43 23 42 0 ENST00000263733.4:c.350G>A p.Gly117Asp p.G117D ENST00000263733 NM_014864.3 117 gGc/gAc 0 -FAM46D UCSF GRCh37 X 79698982 79698982 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 51 104 0 ENST00000538312.1:c.944G>A p.Ser315Asn p.S315N ENST00000538312 NM_001170574.1 315 aGt/aAt 0 -FAM50B UCSF GRCh37 6 3850294 3850294 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 31 8 0 ENST00000380274.1:c.249G>A p.Glu83= p.E83= ENST00000380274 83 gaG/gaA 0 -FAM54B UCSF GRCh37 1 26156015 26156015 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 157 19 129 0 ENST00000374301.3:c.467C>T p.Thr156Met p.T156M ENST00000374301 NM_019557.5 156 aCg/aTg 0 -FAM65A UCSF GRCh37 16 67573757 67573757 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 278 97 114 0 ENST00000422602.2:c.429G>A p.Lys143= p.K143= ENST00000422602 NM_001193523.1 143 aaG/aaA 0 -FAM78A UCSF GRCh37 9 134136293 134136293 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 116 57 44 0 ENST00000372271.3:c.768G>A p.Lys256= p.K256= ENST00000372271 NM_033387.3 256 aaG/aaA 0 -FAM90A1 UCSF GRCh37 12 8375120 8375120 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 225 93 102 0 ENST00000538603.1:c.693C>T p.Ser231= p.S231= ENST00000538603 NM_018088.3 231 agC/agT 0 -FANCD2 UCSF GRCh37 3 10091058 10091058 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 218 35 174 0 ENST00000287647.3:c.1414G>A p.Glu472Lys p.E472K ENST00000287647 NM_033084.3 472 Gaa/Aaa 0 -FANCE UCSF GRCh37 6 35423814 35423814 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 24 26 0 ENST00000229769.2:c.539C>T p.Ser180Phe p.S180F ENST00000229769 NM_021922.2 180 tCc/tTc 0 -FAR2 UCSF GRCh37 12 29423433 29423433 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 13 48 0 ENST00000536681.3:c.51G>A p.Gly17= p.G17= ENST00000536681 NM_001271783.1 17 ggG/ggA 0 -FASLG UCSF GRCh37 1 172634901 172634901 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 54 97 0 ENST00000367721.2:c.591C>T p.Phe197= p.F197= ENST00000367721 NM_000639.1 197 ttC/ttT 0 -FAT3 UCSF GRCh37 11 92531204 92531204 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 212 121 202 0 ENST00000298047.6:c.5025C>T p.Asp1675= p.D1675= ENST00000298047 1675 gaC/gaT 0 -FAT4 UCSF GRCh37 4 126371035 126371035 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 22 73 0 ENST00000394329.3:c.8864C>T p.Ser2955Phe p.S2955F ENST00000394329 NM_024582.4 2955 tCt/tTt 0 -FBN1 UCSF GRCh37 15 48786449 48786449 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 31 50 0 ENST00000316623.5:c.2680C>T p.Pro894Ser p.P894S ENST00000316623 NM_000138.4 894 Ccc/Tcc 0 -FBN2 UCSF GRCh37 5 127680179 127680179 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 24 25 87 0 ENST00000508053.1:c.3241C>T p.Pro1081Ser p.P1081S ENST00000508053 1081 Cct/Tct 0 -FBN3 UCSF GRCh37 19 8160848 8160848 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 27 28 0 ENST00000600128.1:c.5656G>A p.Asp1886Asn p.D1886N ENST00000600128 1886 Gat/Aat 0 -FBXL6 UCSF GRCh37 8 145580259 145580259 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 49 25 0 ENST00000331890.5:c.993+1G>A p.X331_splice ENST00000331890 NM_012162.3 0 -FBXO30 UCSF GRCh37 6 146121445 146121445 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 80 41 66 0 ENST00000237281.4:c.2035G>A p.Val679Ile p.V679I ENST00000237281 NM_032145.4 679 Gta/Ata 0 -FBXO39 UCSF GRCh37 17 6690152 6690152 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 27 68 0 ENST00000321535.4:c.1077C>T p.His359= p.H359= ENST00000321535 NM_153230.2 359 caC/caT 0 -FBXO41 UCSF GRCh37 2 73493648 73493648 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 12 11 0 ENST00000521871.1:c.1068C>T p.Ala356= p.A356= ENST00000521871 356 gcC/gcT 0 -FBXO47 UCSF GRCh37 17 37099972 37099972 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 25 64 0 ENST00000378079.2:c.811G>A p.Glu271Lys p.E271K ENST00000378079 NM_001008777.2 271 Gaa/Aaa 0 -FBXO7 UCSF GRCh37 22 32891500 32891500 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 20 30 0 ENST00000266087.7:c.1165G>A p.Asp389Asn p.D389N ENST00000266087 NM_012179.3 389 Gac/Aac 0 -FCGBP UCSF GRCh37 19 40366336 40366336 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 35 24 0 ENST00000221347.6:c.13898G>A p.Gly4633Glu p.G4633E ENST00000221347 NM_003890.2 4633 gGa/gAa 0 -FCGBP UCSF GRCh37 19 40412068 40412068 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 19 18 0 ENST00000221347.6:c.3560C>T p.Ala1187Val p.A1187V ENST00000221347 NM_003890.2 1187 gCc/gTc 0 -FCGRT UCSF GRCh37 19 50017164 50017164 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 94 65 96 0 ENST00000221466.5:c.99C>T p.His33= p.H33= ENST00000221466 NM_001136019.2 33 caC/caT 0 -FCRL2 UCSF GRCh37 1 157740198 157740198 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 32 72 0 ENST00000361516.3:c.310+1G>A p.X104_splice ENST00000361516 NM_030764.3 0 -FDXACB1 UCSF GRCh37 11 111747557 111747557 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 75 106 0 ENST00000260257.4:c.508G>A p.Ala170Thr p.A170T ENST00000260257 NM_138378.2 170 Gca/Aca 0 -FERMT1 UCSF GRCh37 20 6078170 6078170 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 37 67 0 ENST00000217289.4:c.957+1G>A p.X319_splice ENST00000217289 NM_017671.4 0 -FEZF1 UCSF GRCh37 7 121942396 121942396 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 138 54 73 0 ENST00000442488.2:c.1083C>T p.Asn361= p.N361= ENST00000442488 NM_001160264.1 361 aaC/aaT 0 -FFAR2 UCSF GRCh37 19 35941013 35941013 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 107 49 61 0 ENST00000599180.2:c.397G>A p.Ala133Thr p.A133T ENST00000599180 133 Gcc/Acc 0 -FGD2 UCSF GRCh37 6 36995279 36995279 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 69 66 0 ENST00000274963.8:c.1680G>A p.Lys560= p.K560= ENST00000274963 NM_173558.3 560 aaG/aaA 0 -FGD4 UCSF GRCh37 12 32778605 32778605 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 45 21 64 0 ENST00000427716.2:c.1653A>G p.Lys551= p.K551= ENST00000427716 NM_139241.2 551 aaA/aaG 0 -FGFBP1 UCSF GRCh37 4 15937893 15937893 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 50 90 0 ENST00000382333.1:c.363C>T p.Arg121= p.R121= ENST00000382333 NM_005130.4 121 cgC/cgT 0 -FGFBP2 UCSF GRCh37 4 15964200 15964200 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 115 49 74 0 ENST00000259989.6:c.553C>T p.Pro185Ser p.P185S ENST00000259989 NM_031950.3 185 Cct/Tct 0 -FGFR2 UCSF GRCh37 10 123276956 123276956 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 21 36 58 0 ENST00000358487.5:c.961G>A p.Asp321Asn p.D321N ENST00000358487 NM_000141.4 321 Gac/Aac 0 -FHL3 UCSF GRCh37 1 38463171 38463171 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 35 39 0 ENST00000373016.3:c.749C>T p.Ser250Phe p.S250F ENST00000373016 NM_001243878.1 250 tCc/tTc 0 -FITM2 UCSF GRCh37 20 42935321 42935321 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 26 72 0 ENST00000396825.3:c.733G>A p.Gly245Arg p.G245R ENST00000396825 NM_001080472.1 245 Gga/Aga 0 -FLG2 UCSF GRCh37 1 152330054 152330054 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 23 39 0 ENST00000388718.5:c.208G>A p.Asp70Asn p.D70N ENST00000388718 NM_001014342.2 70 Gac/Aac 0 -FLNA UCSF GRCh37 X 153590825 153590825 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 75 41 0 ENST00000369850.3:c.2526G>A p.Gly842= p.G842= ENST00000369850 NM_001110556.1 842 ggG/ggA 0 -FLNC UCSF GRCh37 7 128487825 128487825 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 51 35 0 ENST00000325888.8:c.4363G>A p.Ala1455Thr p.A1455T ENST00000325888 NM_001458.4 1455 Gct/Act 0 -FLNC UCSF GRCh37 7 128494664 128494664 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 11 9 0 ENST00000325888.8:c.6925C>T p.Leu2309= p.L2309= ENST00000325888 NM_001458.4 2309 Ctg/Ttg 0 -FLNC UCSF GRCh37 7 128490857 128490857 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 35 50 0 ENST00000325888.8:c.5399G>A p.Gly1800Glu p.G1800E ENST00000325888 NM_001458.4 1800 gGa/gAa 0 -FLOT2 UCSF GRCh37 17 27208323 27208323 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 44 69 0 ENST00000394908.4:c.985G>A p.Val329Ile p.V329I ENST00000394908 NM_004475.2 329 Gtc/Atc 0 -FLRT2 UCSF GRCh37 14 86089009 86089009 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 39 81 0 ENST00000330753.4:c.1151C>T p.Pro384Leu p.P384L ENST00000330753 NM_013231.4 384 cCc/cTc 0 -FMN1 UCSF GRCh37 15 33358853 33358853 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 47 126 0 ENST00000334528.9:c.1233G>A p.Arg411= p.R411= ENST00000334528 NM_001103184.3 411 cgG/cgA 0 -FMNL2 UCSF GRCh37 2 153468012 153468012 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 106 69 98 0 ENST00000288670.9:c.955G>A p.Ala319Thr p.A319T ENST00000288670 NM_052905.3 319 Gct/Act 0 -FOLH1B UCSF GRCh37 11 89429802 89429802 + splice_region_variant,non_coding_transcript_exon_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 17 34 0 ENST00000525540.1:n.1574C>T p.X525_splice ENST00000525540 0 -FOXA3 UCSF GRCh37 19 46375379 46375379 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 31 57 0 ENST00000302177.2:c.116C>T p.Ser39Phe p.S39F ENST00000302177 NM_004497.2 39 tCc/tTc 0 -FOXD4 UCSF GRCh37 9 116871 116871 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 31 38 0 ENST00000382500.2:c.1249G>A p.Glu417Lys p.E417K ENST00000382500 NM_207305.4 417 Gag/Aag 0 -FOXF1 UCSF GRCh37 16 86544368 86544368 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 136 55 35 0 ENST00000262426.4:c.193C>T p.Pro65Ser p.P65S ENST00000262426 NM_001451.2 65 Ccc/Tcc 0 -FOXM1 UCSF GRCh37 12 2981341 2981341 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 120 85 140 0 ENST00000342628.2:c.575C>T p.Ser192Phe p.S192F ENST00000342628 NM_202002.2 192 tCt/tTt 0 -FOXR1 UCSF GRCh37 11 118851225 118851225 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 38 71 0 ENST00000317011.3:c.637G>A p.Ala213Thr p.A213T ENST00000317011 NM_181721.2 213 Gcc/Acc 0 -FOXRED2 UCSF GRCh37 22 36894137 36894137 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 30 25 0 ENST00000397224.4:c.1283C>T p.Pro428Leu p.P428L ENST00000397224 NM_001102371.1 428 cCc/cTc 0 -FRAS1 UCSF GRCh37 4 79432566 79432566 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 84 138 0 ENST00000264895.6:c.9919C>T p.Pro3307Ser p.P3307S ENST00000264895 NM_025074.6 3307 Cca/Tca 0 -FRAS1 UCSF GRCh37 4 79229230 79229230 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 115 69 142 0 ENST00000264895.6:c.1545G>A p.Glu515= p.E515= ENST00000264895 NM_025074.6 515 gaG/gaA 0 -FREM1 UCSF GRCh37 9 14770618 14770618 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 68 52 74 0 ENST00000422223.2:c.5044G>A p.Glu1682Lys p.E1682K ENST00000422223 NM_144966.5 1682 Gag/Aag 0 -FREM2 UCSF GRCh37 13 39263675 39263675 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 39 68 0 ENST00000280481.7:c.2194G>A p.Asp732Asn p.D732N ENST00000280481 NM_207361.4 732 Gac/Aac 0 -FRMD3 UCSF GRCh37 9 85863162 85863162 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 58 112 0 ENST00000304195.3:c.1465G>A p.Asp489Asn p.D489N ENST00000304195 NM_001244960.1 489 Gat/Aat 0 -FRMD6 UCSF GRCh37 14 52194727 52194727 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 20 31 0 ENST00000344768.5:c.1849G>A p.Val617Ile p.V617I ENST00000344768 617 Gtt/Att 0 -FRMPD1 UCSF GRCh37 9 37746123 37746123 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 122 82 72 0 ENST00000539465.1:c.4094C>T p.Pro1365Leu p.P1365L ENST00000539465 1365 cCc/cTc 0 -FRMPD1 UCSF GRCh37 9 37735548 37735548 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 36 88 0 ENST00000539465.1:c.1219-1G>A p.X407_splice ENST00000539465 0 -FRY UCSF GRCh37 13 32653159 32653159 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 130 80 110 0 ENST00000380250.3:c.259G>A p.Ala87Thr p.A87T ENST00000380250 NM_023037.2 87 Gca/Aca 0 -FRY UCSF GRCh37 13 32805425 32805425 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 63 86 0 ENST00000380250.3:c.5515G>A p.Asp1839Asn p.D1839N ENST00000380250 NM_023037.2 1839 Gat/Aat 0 -FRY UCSF GRCh37 13 32868530 32868530 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 37 64 0 ENST00000380250.3:c.8606G>A p.Ser2869Asn p.S2869N ENST00000380250 NM_023037.2 2869 aGt/aAt 0 -FRY UCSF GRCh37 13 32776558 32776558 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 64 68 0 ENST00000380250.3:c.3912C>T p.Leu1304= p.L1304= ENST00000380250 NM_023037.2 1304 ctC/ctT 0 -FSCB UCSF GRCh37 14 44975886 44975886 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 126 87 201 0 ENST00000340446.4:c.305G>A p.Arg102Lys p.R102K ENST00000340446 NM_032135.3 102 aGa/aAa 0 -FSCB UCSF GRCh37 14 44974999 44974999 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 39 73 0 ENST00000340446.4:c.1192C>T p.Pro398Ser p.P398S ENST00000340446 NM_032135.3 398 Cct/Tct 0 -FSCN3 UCSF GRCh37 7 127240402 127240402 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 68 15 49 0 ENST00000265825.5:c.1446C>T p.Thr482= p.T482= ENST00000265825 NM_020369.2 482 acC/acT 0 -FSD1 UCSF GRCh37 19 4318408 4318408 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 22 24 0 ENST00000221856.6:c.865G>A p.Glu289Lys p.E289K ENST00000221856 NM_024333.2 289 Gag/Aag 0 -FSIP1 UCSF GRCh37 15 40005681 40005681 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 72 129 0 ENST00000350221.3:c.1152G>A p.Glu384= p.E384= ENST00000350221 NM_152597.4 384 gaG/gaA 0 -FSIP2 UCSF GRCh37 2 186656884 186656884 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 159 100 165 0 ENST00000343098.5:c.5288C>T p.Pro1763Leu p.P1763L ENST00000343098 NM_173651.2 1763 cCt/cTt 0 -FSIP2 UCSF GRCh37 2 186665992 186665992 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 89 54 85 0 ENST00000343098.5:c.12226C>T p.Leu4076Phe p.L4076F ENST00000343098 NM_173651.2 4076 Ctc/Ttc 0 -FSIP2 UCSF GRCh37 2 186657540 186657540 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 107 40 85 0 ENST00000343098.5:c.5944G>A p.Ala1982Thr p.A1982T ENST00000343098 NM_173651.2 1982 Gct/Act 0 -FSIP2 UCSF GRCh37 2 186667048 186667048 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 36 78 0 ENST00000343098.5:c.13282G>A p.Val4428Ile p.V4428I ENST00000343098 NM_173651.2 4428 Gta/Ata 0 -FSTL4 UCSF GRCh37 5 132560877 132560877 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 31 80 0 ENST00000265342.7:c.1277C>T p.Ser426Phe p.S426F ENST00000265342 NM_015082.1 426 tCc/tTc 0 -FUK UCSF GRCh37 16 70497664 70497664 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 10 15 0 ENST00000288078.6:c.221G>A p.Arg74Gln p.R74Q ENST00000288078 NM_145059.2 74 cGg/cAg 0 -FUT2 UCSF GRCh37 19 49206791 49206791 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 66 40 0 ENST00000425340.2:c.578G>A p.Gly193Asp p.G193D ENST00000425340 NM_001097638.2 193 gGc/gAc 0 -FUT6 UCSF GRCh37 19 5832069 5832069 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 81 46 42 0 ENST00000318336.4:c.510G>A p.Trp170Ter p.W170* ENST00000318336 NM_000150.2 170 tgG/tgA 0 -FYB UCSF GRCh37 5 39202562 39202562 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 155 81 171 1 ENST00000540520.1:c.531G>A p.Lys177= p.K177= ENST00000540520 NM_001243093.1 177 aaG/aaA 0 -FYCO1 UCSF GRCh37 3 46009818 46009818 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 168 45 51 0 ENST00000296137.2:c.1008C>T p.Ala336= p.A336= ENST00000296137 NM_024513.3 336 gcC/gcT 0 -FYCO1 UCSF GRCh37 3 46009686 46009686 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 287 98 172 0 ENST00000296137.2:c.1140T>C p.Asp380= p.D380= ENST00000296137 NM_024513.3 380 gaT/gaC 0 -FZD10 UCSF GRCh37 12 130647932 130647932 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 208 49 50 0 ENST00000229030.4:c.445G>A p.Glu149Lys p.E149K ENST00000229030 149 Gag/Aag 0 -FZD10 UCSF GRCh37 12 130649027 130649027 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 30 46 0 ENST00000229030.4:c.1540G>A p.Val514Met p.V514M ENST00000229030 514 Gtg/Atg 0 -GABBR1 UCSF GRCh37 6 29574681 29574681 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 38 69 0 ENST00000377034.4:c.2210C>T p.Thr737Ile p.T737I ENST00000377034 NM_001470.2 737 aCc/aTc 0 -GABBR2 UCSF GRCh37 9 101235433 101235433 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 37 20 36 0 ENST00000259455.2:c.994G>A p.Gly332Arg p.G332R ENST00000259455 NM_005458.7 332 Gga/Aga 0 -GABRB1 UCSF GRCh37 4 47034018 47034018 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 139 79 93 0 ENST00000295454.3:c.168C>T p.Phe56= p.F56= ENST00000295454 NM_000812.3 56 ttC/ttT 0 -GAGE2D UCSF GRCh37 X 49208299 49208313 + protein_altering_variant In_Frame_Ins INS CGGCCTAGACCAAGA CGGCCTAGACCAAGA TATTGGCCTAGACCAAGG NOVEL P05_Rec Untested WXS Illumina HiSeq 9 0 ENST00000404720.2:c.28_42delinsTATTGGCCTAGACCAAGG p.Arg10delinsTyrTrp p.R10delinsYW ENST00000404720 NM_001098407.1 10 CGGCCTAGACCAAGA/TATTGGCCTAGACCAAGG 0 -GALNS UCSF GRCh37 16 88889032 88889032 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 16 18 0 ENST00000268695.5:c.1329C>T p.His443= p.H443= ENST00000268695 NM_000512.4 443 caC/caT 0 -GALNTL5 UCSF GRCh37 7 151705015 151705015 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 127 30 100 0 ENST00000392800.2:c.1012G>A p.Glu338Lys p.E338K ENST00000392800 NM_145292.3 338 Gaa/Aaa 0 -GAPVD1 UCSF GRCh37 9 128099780 128099780 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 59 22 50 0 ENST00000394105.2:c.2868C>T p.Leu956= p.L956= ENST00000394105 NM_015635.2 956 ctC/ctT 0 -GARNL3 UCSF GRCh37 9 130127616 130127616 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 225 64 123 0 ENST00000373387.4:c.2132G>A p.Gly711Glu p.G711E ENST00000373387 NM_032293.4 711 gGa/gAa 0 -GAS2L2 UCSF GRCh37 17 34072427 34072427 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 71 72 0 ENST00000254466.6:c.2089G>A p.Gly697Arg p.G697R ENST00000254466 NM_139285.3 697 Gga/Aga 0 -GAS2L3 UCSF GRCh37 12 100994246 100994246 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 35 95 0 ENST00000539410.1:c.105C>T p.Tyr35= p.Y35= ENST00000539410 35 taC/taT 0 -GATAD1 UCSF GRCh37 7 92083940 92083940 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 149 49 72 0 ENST00000287957.3:c.560G>A p.Trp187Ter p.W187* ENST00000287957 NM_021167.4 187 tGg/tAg 0 -GCAT UCSF GRCh37 22 38205992 38205992 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 43 61 0 ENST00000323205.6:c.233C>T p.Pro78Leu p.P78L ENST00000323205 NM_001171690.1 78 cCc/cTc 0 -GCAT UCSF GRCh37 22 38205980 38205980 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 34 59 0 ENST00000323205.6:c.221G>A p.Gly74Asp p.G74D ENST00000323205 NM_001171690.1 74 gGc/gAc 0 -GCNT3 UCSF GRCh37 15 59911202 59911202 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.004,1000g2011may_all_0.01089,snp132_rs35655456 P05_Rec Untested WXS Illumina HiSeq 192 90 169 0 ENST00000396065.1:c.765G>A p.Glu255= p.E255= ENST00000396065 NM_004751.2 255 gaG/gaA 0 -GCNT7 UCSF GRCh37 20 55070281 55070281 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 13 40 0 ENST00000243913.4:c.677G>A p.Gly226Glu p.G226E ENST00000243913 NM_080615.1 226 gGa/gAa 0 -GFI1B UCSF GRCh37 9 135862166 135862166 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 8 10 0 ENST00000339463.3:c.100+1G>A p.X34_splice ENST00000339463 0 -GFRA1 UCSF GRCh37 10 117823939 117823939 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 15 31 52 0 ENST00000355422.6:c.1368C>T p.Ser456= p.S456= ENST00000355422 NM_005264.4 456 tcC/tcT 0 -GGT1 UCSF GRCh37 22 25007180 25007180 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 7 24 1 ENST00000400382.1:c.132C>T p.Ala44= p.A44= ENST00000400382 NM_001288833.1 44 gcC/gcT 0 -GHRHR UCSF GRCh37 7 31008476 31008476 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 21 41 0 ENST00000326139.2:c.85G>T p.Asp29Tyr p.D29Y ENST00000326139 NM_000823.3 29 Gac/Tac 0 -GIMAP2 UCSF GRCh37 7 150389551 150389551 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 29 94 0 ENST00000223293.5:c.177G>A p.Lys59= p.K59= ENST00000223293 NM_015660.2 59 aaG/aaA 0 -GIMAP8 UCSF GRCh37 7 150163967 150163967 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 160 69 115 0 ENST00000307271.3:c.181G>A p.Val61Ile p.V61I ENST00000307271 NM_175571.2 61 Gtt/Att 0 -GIMAP8 UCSF GRCh37 7 150171237 150171237 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 119 27 59 0 ENST00000307271.3:c.820C>T p.Gln274Ter p.Q274* ENST00000307271 NM_175571.2 274 Cag/Tag 0 -GIT1 UCSF GRCh37 17 27904199 27904199 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 175 106 89 0 ENST00000394869.3:c.1075G>A p.Glu359Lys p.E359K ENST00000394869 NM_001085454.1 359 Gag/Aag 0 -GJB6 UCSF GRCh37 13 20797371 20797371 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 28 35 0 ENST00000356192.6:c.249C>T p.Phe83= p.F83= ENST00000356192 NM_001110219.2 83 ttC/ttT 0 -GJB7 UCSF GRCh37 6 87994398 87994398 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 92 46 90 0 ENST00000525899.1:c.233C>T p.Ala78Val p.A78V ENST00000525899 NM_198568.2 78 gCc/gTc 0 -GLDC UCSF GRCh37 9 6592855 6592855 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 32 73 0 ENST00000321612.6:c.1397G>A p.Gly466Asp p.G466D ENST00000321612 NM_000170.2 466 gGc/gAc 0 -GLDC UCSF GRCh37 9 6587248 6587248 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 29 68 0 ENST00000321612.6:c.1743C>T p.Pro581= p.P581= ENST00000321612 NM_000170.2 581 ccC/ccT 0 -GLI3 UCSF GRCh37 7 42187981 42187981 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 12 43 0 ENST00000395925.3:c.211G>A p.Val71Ile p.V71I ENST00000395925 NM_000168.5 71 Gtc/Atc 0 -GLI3 UCSF GRCh37 7 42079724 42079724 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 86 39 54 0 ENST00000395925.3:c.941C>T p.Pro314Leu p.P314L ENST00000395925 NM_000168.5 314 cCc/cTc 0 -GLIS3 UCSF GRCh37 9 3937133 3937133 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 101 59 72 0 ENST00000381971.3:c.1767G>A p.Arg589= p.R589= ENST00000381971 NM_001042413.1 589 cgG/cgA 0 -GLRA4 UCSF GRCh37 X 102977152 102977152 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 122 131 0 ENST00000372617.4:c.646G>A p.Gly216Arg p.G216R ENST00000372617 NM_001024452.2 216 Ggg/Agg 0 -GLT8D2 UCSF GRCh37 12 104387238 104387238 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 9 19 0 ENST00000360814.4:c.812C>T p.Ser271Phe p.S271F ENST00000360814 NM_031302.3 271 tCc/tTc 0 -GLUD1 UCSF GRCh37 10 88818930 88818930 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 99 132 0 ENST00000277865.4:c.1379G>A p.Arg460Lys p.R460K ENST00000277865 NM_005271.3 460 aGg/aAg 0 -GLYAT UCSF GRCh37 11 58491934 58491934 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 50 80 0 ENST00000344743.3:c.36G>A p.Gln12= p.Q12= ENST00000344743 NM_201648.2 12 caG/caA 0 -GMEB1 UCSF GRCh37 1 29041273 29041273 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 35 64 0 ENST00000294409.2:c.1710C>T p.Val570= p.V570= ENST00000294409 NM_006582.3 570 gtC/gtT 0 -GMEB2 UCSF GRCh37 20 62221730 62221730 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 16 8 0 ENST00000266068.1:c.1305C>T p.Ala435= p.A435= ENST00000266068 435 gcC/gcT 0 -GMPR UCSF GRCh37 6 16254852 16254852 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 57 125 1 ENST00000259727.4:c.351G>A p.Leu117= p.L117= ENST00000259727 NM_006877.3 117 ctG/ctA 0 -GNAI1 UCSF GRCh37 7 79818509 79818509 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 19 51 0 ENST00000351004.3:c.265G>A p.Gly89Arg p.G89R ENST00000351004 NM_002069.5 89 Ggg/Agg 0 -GNAI2 UCSF GRCh37 3 50294993 50294993 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 14 46 0 ENST00000313601.6:c.939G>A p.Lys313= p.K313= ENST00000313601 NM_002070.2 313 aaG/aaA 0 -GNG4 UCSF GRCh37 1 235715517 235715517 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 97 49 88 0 ENST00000391854.2:c.120C>T p.Asp40= p.D40= ENST00000391854 NM_001098722.1 40 gaC/gaT 0 -GNPAT UCSF GRCh37 1 231403448 231403448 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 57 101 0 ENST00000366647.4:c.1078G>A p.Glu360Lys p.E360K ENST00000366647 NM_014236.3 360 Gag/Aag 0 -GON4L UCSF GRCh37 1 155774791 155774791 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 51 118 0 ENST00000437809.1:c.1594G>A p.Asp532Asn p.D532N ENST00000437809 532 Gac/Aac 0 -GORASP1 UCSF GRCh37 3 39141805 39141805 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 20 27 0 ENST00000319283.3:c.756C>T p.Asp252= p.D252= ENST00000319283 NM_031899.3 252 gaC/gaT 0 -GPC3 UCSF GRCh37 X 132888089 132888089 + missense_variant Missense_Mutation SNP T T A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 92 157 0 ENST00000394299.2:c.452A>T p.Asp151Val p.D151V ENST00000394299 NM_001164617.1 151 gAt/gTt 0 -GPHN UCSF GRCh37 14 67626206 67626206 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 86 51 60 0 ENST00000478722.1:c.1910+1G>A p.X637_splice ENST00000478722 NM_020806.4 0 -GPM6B UCSF GRCh37 X 13825868 13825868 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 45 89 0 ENST00000316715.4:c.82G>A p.Glu28Lys p.E28K ENST00000316715 NM_001001995.1 28 Gaa/Aaa 0 -GPR124 UCSF GRCh37 8 37690588 37690588 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 53 50 0 ENST00000412232.2:c.1158C>T p.Thr386= p.T386= ENST00000412232 NM_032777.9 386 acC/acT 0 -GPR146 UCSF GRCh37 7 1097986 1097986 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 35 55 0 ENST00000397095.1:c.835G>A p.Asp279Asn p.D279N ENST00000397095 279 Gat/Aat 0 -GPR155 UCSF GRCh37 2 175335147 175335147 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 17 50 0 ENST00000392552.2:c.997G>A p.Ala333Thr p.A333T ENST00000392552 NM_152529.6 333 Gca/Aca 0 -GPR179 UCSF GRCh37 17 36483358 36483358 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 53 99 0 ENST00000342292.4:c.6094G>A p.Val2032Met p.V2032M ENST00000342292 NM_001004334.2 2032 Gtg/Atg 0 -GPR179 UCSF GRCh37 17 36499107 36499107 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 42 61 0 ENST00000342292.4:c.566C>T p.Pro189Leu p.P189L ENST00000342292 NM_001004334.2 189 cCt/cTt 0 -GPR20 UCSF GRCh37 8 142367957 142367957 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 21 12 0 ENST00000377741.3:c.67G>A p.Val23Met p.V23M ENST00000377741 NM_005293.2 23 Gtg/Atg 0 -GPR20 UCSF GRCh37 8 142367775 142367775 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 62 28 0 ENST00000377741.3:c.249G>A p.Arg83= p.R83= ENST00000377741 NM_005293.2 83 cgG/cgA 0 -GPR3 UCSF GRCh37 1 27720670 27720670 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 134 81 58 0 ENST00000374024.3:c.368G>A p.Ser123Asn p.S123N ENST00000374024 NM_005281.3 123 aGc/aAc 0 -GPR97 UCSF GRCh37 16 57712211 57712211 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 36 46 0 ENST00000333493.4:c.475C>T p.Pro159Ser p.P159S ENST00000333493 NM_170776.4 159 Cca/Tca 0 -GPR98 UCSF GRCh37 5 90368287 90368287 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 68 129 0 ENST00000405460.2:c.18176C>T p.Ala6059Val p.A6059V ENST00000405460 NM_032119.3 6059 gCt/gTt 0 -GPRC5B UCSF GRCh37 16 19883984 19883984 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 46 28 0 ENST00000300571.2:c.184G>A p.Val62Met p.V62M ENST00000300571 NM_016235.1 62 Gtg/Atg 0 -GRB7 UCSF GRCh37 17 37898594 37898594 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 116 77 102 0 ENST00000445327.2:c.109C>T p.Pro37Ser p.P37S ENST00000445327 NM_001242442.1 37 Ccg/Tcg 0 -GRHL3 UCSF GRCh37 1 24658026 24658026 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 49 73 0 ENST00000350501.5:c.128C>T p.Ala43Val p.A43V ENST00000350501 NM_198174.2 43 gCc/gTc 0 -GRID2 UCSF GRCh37 4 94436455 94436455 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 53 72 0 ENST00000282020.4:c.2086C>T p.Leu696= p.L696= ENST00000282020 NM_001510.2 696 Ctg/Ttg 0 -GRIN2A UCSF GRCh37 16 9857804 9857804 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 161 79 146 0 ENST00000330684.3:c.3597G>A p.Pro1199= p.P1199= ENST00000330684 NM_001134407.1 1199 ccG/ccA 0 -GRIN2A UCSF GRCh37 16 10273879 10273879 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 45 27 0 ENST00000330684.3:c.390C>T p.Gly130= p.G130= ENST00000330684 NM_001134407.1 130 ggC/ggT 0 -GRIN3B UCSF GRCh37 19 1005407 1005407 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 66 35 0 ENST00000234389.3:c.1907C>T p.Thr636Met p.T636M ENST00000234389 NM_138690.1 636 aCg/aTg 0 -GRK1 UCSF GRCh37 13 114322040 114322040 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 64 67 0 ENST00000335678.6:c.339G>A p.Gln113= p.Q113= ENST00000335678 NM_002929.2 113 caG/caA 0 -GRM1 UCSF GRCh37 6 146351336 146351336 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 72 31 65 0 ENST00000361719.2:c.683C>T p.Ser228Phe p.S228F ENST00000361719 228 tCt/tTt 0 -GRM1 UCSF GRCh37 6 146673547 146673547 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 52 105 0 ENST00000361719.2:c.1348C>T p.Leu450= p.L450= ENST00000361719 450 Ctg/Ttg 0 -GRM2 UCSF GRCh37 3 51750123 51750123 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 59 15 31 0 ENST00000395052.3:c.2334C>T p.Pro778= p.P778= ENST00000395052 NM_000839.3 778 ccC/ccT 0 -GSTA3 UCSF GRCh37 6 52764848 52764848 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 124 61 149 0 ENST00000211122.3:c.298G>A p.Ala100Thr p.A100T ENST00000211122 NM_000847.4 100 Gca/Aca 0 -GTF2A1L UCSF GRCh37 2 48874040 48874040 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 20 37 64 0 ENST00000394754.1:c.2949C>T p.Leu983= p.L983= ENST00000394754 NM_172311.2 983 ctC/ctT 0 -GTF2H4 UCSF GRCh37 6 30880904 30880904 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 27 23 0 ENST00000259895.4:c.1107G>A p.Arg369= p.R369= ENST00000259895 NM_001517.4 369 agG/agA 0 -GTF2IRD1 UCSF GRCh37 7 73927195 73927195 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 29 30 0 ENST00000455841.2:c.159C>T p.Ala53= p.A53= ENST00000455841 NM_001199207.1 53 gcC/gcT 0 -GTF3C1 UCSF GRCh37 16 27506726 27506726 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 15 19 0 ENST00000356183.4:c.2438G>A p.Gly813Glu p.G813E ENST00000356183 NM_001520.3 813 gGg/gAg 0 -GTSE1 UCSF GRCh37 22 46704798 46704798 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 46 46 0 ENST00000454366.1:c.720G>A p.Ala240= p.A240= ENST00000454366 NM_016426.6 240 gcG/gcA 0 -GUCY1A2 UCSF GRCh37 11 106558395 106558395 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 142 105 117 0 ENST00000282249.2:c.2172C>T p.Ile724= p.I724= ENST00000282249 NM_001256424.1 724 atC/atT 0 -GUF1 UCSF GRCh37 4 44688578 44688578 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 87 56 90 0 ENST00000281543.5:c.786C>T p.Thr262= p.T262= ENST00000281543 NM_021927.2 262 acC/acT 0 -GZMH UCSF GRCh37 14 25077492 25077492 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 33 74 0 ENST00000216338.4:c.182C>T p.Thr61Ile p.T61I ENST00000216338 NM_033423.4 61 aCa/aTa 0 -H1FNT UCSF GRCh37 12 48723752 48723752 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 9 13 0 ENST00000335017.1:c.678G>A p.Thr226= p.T226= ENST00000335017 NM_181788.1 226 acG/acA 0 -H6PD UCSF GRCh37 1 9324739 9324739 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 49 17 0 ENST00000377403.2:c.2187G>A p.Met729Ile p.M729I ENST00000377403 NM_004285.3 729 atG/atA 0 -HACE1 UCSF GRCh37 6 105225138 105225138 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 48 73 0 ENST00000262903.4:c.1621G>A p.Asp541Asn p.D541N ENST00000262903 NM_020771.3 541 Gat/Aat 0 -HACE1 UCSF GRCh37 6 105232911 105232911 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 46 86 0 ENST00000262903.4:c.1358G>A p.Ser453Asn p.S453N ENST00000262903 NM_020771.3 453 aGt/aAt 0 -HADHA UCSF GRCh37 2 26415196 26415196 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 66 109 0 ENST00000380649.3:c.1983G>A p.Leu661= p.L661= ENST00000380649 NM_000182.4 661 ctG/ctA 0 -HAO2 UCSF GRCh37 1 119927582 119927582 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 39 90 0 ENST00000325945.3:c.467C>T p.Thr156Ile p.T156I ENST00000325945 NM_016527.2 156 aCt/aTt 0 -HCRTR1 UCSF GRCh37 1 32084911 32084911 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 165 78 70 0 ENST00000403528.2:c.118C>T p.Leu40= p.L40= ENST00000403528 NM_001525.2 40 Ctg/Ttg 0 -HDAC4 UCSF GRCh37 2 240029877 240029877 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 8 12 12 0 ENST00000345617.3:c.1966C>T p.Leu656Phe p.L656F ENST00000345617 NM_006037.3 656 Ctc/Ttc 0 -HDAC6 UCSF GRCh37 X 48666703 48666703 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 8 7 20 0 ENST00000334136.5:c.776G>A p.Gly259Glu p.G259E ENST00000334136 259 gGa/gAa 0 -HDC UCSF GRCh37 15 50535041 50535041 + missense_variant Missense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 39 46 43 0 ENST00000267845.3:c.1405G>C p.Asp469His p.D469H ENST00000267845 NM_002112.3 469 Gat/Cat 0 -HDC UCSF GRCh37 15 50546769 50546769 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 25 46 0 ENST00000267845.3:c.534G>A p.Glu178= p.E178= ENST00000267845 NM_002112.3 178 gaG/gaA 0 -HEATR1 UCSF GRCh37 1 236761195 236761195 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 37 80 0 ENST00000366582.3:c.586G>A p.Val196Met p.V196M ENST00000366582 NM_018072.5 196 Gtg/Atg 0 -HEATR3 UCSF GRCh37 16 50112689 50112689 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 26 51 0 ENST00000299192.7:c.801G>A p.Lys267= p.K267= ENST00000299192 NM_182922.2 267 aaG/aaA 0 -HEATR4 UCSF GRCh37 14 73987712 73987712 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 44 118 0 ENST00000553558.1:c.913G>A p.Val305Ile p.V305I ENST00000553558 NM_001220484.1 305 Gtt/Att 0 -HECTD1 UCSF GRCh37 14 31575929 31575929 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 43 62 0 ENST00000399332.1:c.7149G>A p.Glu2383= p.E2383= ENST00000399332 NM_015382.2 2383 gaG/gaA 0 -HELQ UCSF GRCh37 4 84342833 84342833 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 30 43 0 ENST00000295488.3:c.2832G>A p.Leu944= p.L944= ENST00000295488 NM_133636.2 944 ttG/ttA 0 -HEPH UCSF GRCh37 X 65483531 65483531 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 32 85 0 ENST00000519389.1:c.3406+1G>A p.X1136_splice ENST00000519389 0 -HEPHL1 UCSF GRCh37 11 93806331 93806331 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 136 95 146 0 ENST00000315765.9:c.1372+1G>A p.X458_splice ENST00000315765 NM_001098672.1 0 -HERC2 UCSF GRCh37 15 28408403 28408403 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 48 57 0 ENST00000261609.7:c.10583G>A p.Gly3528Asp p.G3528D ENST00000261609 NM_004667.5 3528 gGt/gAt 0 -HERC2 UCSF GRCh37 15 28517390 28517390 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 15 48 0 ENST00000261609.7:c.1054G>A p.Asp352Asn p.D352N ENST00000261609 NM_004667.5 352 Gat/Aat 0 -HESX1 UCSF GRCh37 3 57232915 57232915 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 254 142 176 0 ENST00000295934.3:c.223G>A p.Val75Met p.V75M ENST00000295934 NM_003865.2 75 Gtg/Atg 0 -HEXDC UCSF GRCh37 17 80395092 80395092 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 141 79 40 0 ENST00000337014.6:c.752C>T p.Ala251Val p.A251V ENST00000337014 NM_173620.2 251 gCa/gTa 0 -HFM1 UCSF GRCh37 1 91844621 91844621 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 28 47 0 ENST00000370425.3:c.1157C>T p.Pro386Leu p.P386L ENST00000370425 NM_001017975.3 386 cCa/cTa 0 -HIAT1 UCSF GRCh37 1 100535242 100535242 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 36 72 0 ENST00000370152.3:c.891+1G>A p.X297_splice ENST00000370152 NM_033055.2 0 -HIF1A UCSF GRCh37 14 62204870 62204870 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 55 66 0 ENST00000539097.1:c.1387C>T p.Pro463Ser p.P463S ENST00000539097 NM_001243084.1 463 Ccc/Tcc 0 -HIP1 UCSF GRCh37 7 75211432 75211432 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 5 13 0 ENST00000336926.6:c.501C>T p.Asp167= p.D167= ENST00000336926 NM_005338.6 167 gaC/gaT 0 -HIST1H2AE UCSF GRCh37 6 26217364 26217364 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 41 81 0 ENST00000303910.2:c.162G>A p.Ala54= p.A54= ENST00000303910 NM_021052.2 54 gcG/gcA 0 -HIST1H4L UCSF GRCh37 6 27841178 27841178 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 93 68 58 0 ENST00000355981.2:c.111C>T p.Arg37= p.R37= ENST00000355981 NM_003546.2 37 cgC/cgT 0 -HIST3H2BB UCSF GRCh37 1 228645954 228645954 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 203 113 88 0 ENST00000369160.2:c.124G>A p.Val42Met p.V42M ENST00000369160 NM_175055.2 42 Gtg/Atg 0 -HIVEP1 UCSF GRCh37 6 12164042 12164042 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 86 51 83 0 ENST00000379388.2:c.7505C>T p.Ala2502Val p.A2502V ENST00000379388 NM_002114.2 2502 gCc/gTc 0 -HK3 UCSF GRCh37 5 176315739 176315739 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 33 49 0 ENST00000292432.5:c.1041C>T p.Ile347= p.I347= ENST00000292432 NM_002115.2 347 atC/atT 0 -HKR1 UCSF GRCh37 19 37854105 37854105 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 97 41 92 0 ENST00000324411.4:c.1408G>A p.Val470Ile p.V470I ENST00000324411 NM_181786.2 470 Gtc/Atc 0 -HLA-DPB1 UCSF GRCh37 6 33053574 33053574 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 19 56 0 ENST00000418931.2:c.665C>T p.Ala222Val p.A222V ENST00000418931 NM_002121.5 222 gCc/gTc 0 -HLA-F UCSF GRCh37 6 29692880 29692880 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 61 34 62 0 ENST00000259951.7:c.683G>C p.Gly228Ala p.G228A ENST00000259951 NM_001098479.1 228 gGc/gCc 0 -HMCN1 UCSF GRCh37 1 186039866 186039866 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 42 97 0 ENST00000271588.4:c.8116C>T p.Leu2706Phe p.L2706F ENST00000271588 NM_031935.2 2706 Ctc/Ttc 0 -HMCN1 UCSF GRCh37 1 186007969 186007969 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 68 47 83 0 ENST00000271588.4:c.5860T>C p.Trp1954Arg p.W1954R ENST00000271588 NM_031935.2 1954 Tgg/Cgg 0 -HMG20A UCSF GRCh37 15 77771634 77771634 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 29 86 0 ENST00000381714.3:c.1021G>A p.Val341Ile p.V341I ENST00000381714 NM_018200.2 341 Gtt/Att 0 -HMGXB4 UCSF GRCh37 22 35659100 35659100 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 26 54 0 ENST00000216106.5:c.61G>A p.Asp21Asn p.D21N ENST00000216106 NM_001003681.2 21 Gac/Aac 0 -HMGXB4 UCSF GRCh37 22 35659836 35659836 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 20 61 0 ENST00000216106.5:c.228G>A p.Arg76= p.R76= ENST00000216106 NM_001003681.2 76 agG/agA 0 -HNRNPH2 UCSF GRCh37 X 100668241 100668241 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 139 166 0 ENST00000316594.5:c.1265G>A p.Gly422Asp p.G422D ENST00000316594 NM_001199974.1 422 gGt/gAt 0 -HNRNPU UCSF GRCh37 1 245021367 245021367 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 49 73 0 ENST00000283179.9:c.1440C>T p.Pro480= p.P480= ENST00000283179 480 ccC/ccT 0 -HOOK3 UCSF GRCh37 8 42868530 42868530 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 48 51 0 ENST00000307602.4:c.2003C>T p.Ala668Val p.A668V ENST00000307602 NM_032410.3 668 gCc/gTc 0 -HOXB3 UCSF GRCh37 17 46628137 46628137 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 150 70 50 0 ENST00000470495.1:c.855C>T p.Ser285= p.S285= ENST00000470495 285 agC/agT 0 -HOXD4 UCSF GRCh37 2 177017514 177017514 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 178 83 84 0 ENST00000306324.3:c.612C>T p.Asn204= p.N204= ENST00000306324 NM_014621.2 204 aaC/aaT 0 -HPN UCSF GRCh37 19 35556929 35556929 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 119 51 63 0 ENST00000262626.2:c.1208C>T p.Ala403Val p.A403V ENST00000262626 NM_182983.2 403 gCc/gTc 0 -HPS1 UCSF GRCh37 10 100183425 100183425 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 85 82 0 ENST00000325103.6:c.1533G>A p.Arg511= p.R511= ENST00000325103 NM_000195.3 511 cgG/cgA 0 -HRC UCSF GRCh37 19 49657604 49657604 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 33 33 0 ENST00000252825.4:c.891C>T p.His297= p.H297= ENST00000252825 NM_002152.2 297 caC/caT 0 -HRH2 UCSF GRCh37 5 175110320 175110320 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 81 149 0 ENST00000377291.2:c.84C>T p.Leu28= p.L28= ENST00000377291 NM_001131055.1 28 ctC/ctT 0 -HSD17B13 UCSF GRCh37 4 88231402 88231402 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 29 47 0 ENST00000328546.4:c.805C>T p.Leu269= p.L269= ENST00000328546 NM_178135.3 269 Cta/Tta 0 -HSF4 UCSF GRCh37 16 67199654 67199654 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 31 12 0 ENST00000264009.8:c.265G>A p.Gly89Ser p.G89S ENST00000264009 NM_001040667.2 89 Ggc/Agc 0 -HSPA5 UCSF GRCh37 9 127999235 127999235 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 130 63 154 0 ENST00000324460.6:c.1601C>T p.Thr534Ile p.T534I ENST00000324460 NM_005347.4 534 aCa/aTa 0 -HSPB1 UCSF GRCh37 7 75933374 75933374 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 11 13 0 ENST00000248553.6:c.502C>T p.Pro168Ser p.P168S ENST00000248553 NM_001540.3 168 Ccc/Tcc 0 -HSPBAP1 UCSF GRCh37 3 122459251 122459251 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 32 82 0 ENST00000306103.2:c.1408G>A p.Val470Met p.V470M ENST00000306103 NM_024610.5 470 Gtg/Atg 0 -HSPBP1 UCSF GRCh37 19 55790887 55790888 + inframe_insertion In_Frame_Ins INS - - GCCGCCGCC snp132_rs71743637 P05_Rec Untested WXS Illumina HiSeq 8 0 ENST00000255631.5:c.89_90insGGCGGCGGC p.Gly30_Ser31insAlaAlaAla p.G30_S31insAAA ENST00000255631 NM_012267.4 30 ggc/ggGGCGGCGGCc 0 -HSPG2 UCSF GRCh37 1 22150810 22150810 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 55 38 0 ENST00000374695.3:c.12804C>T p.His4268= p.H4268= ENST00000374695 NM_005529.5 4268 caC/caT 0 -HSPG2 UCSF GRCh37 1 22222744 22222744 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 135 74 114 0 ENST00000374695.3:c.123C>T p.Val41= p.V41= ENST00000374695 NM_005529.5 41 gtC/gtT 0 -HTR1B UCSF GRCh37 6 78172409 78172409 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 37 67 0 ENST00000369947.2:c.712C>T p.Arg238Trp p.R238W ENST00000369947 NM_000863.1 238 Cgg/Tgg 0 -HTR7 UCSF GRCh37 10 92503445 92503445 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 36 72 0 ENST00000336152.3:c.1298G>A p.Arg433Lys p.R433K ENST00000336152 NM_019859.3 433 aGg/aAg 0 -HTT UCSF GRCh37 4 3215750 3215750 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 27 29 0 ENST00000355072.5:c.6840C>T p.Asp2280= p.D2280= ENST00000355072 NM_002111.6 2280 gaC/gaT 0 -HVCN1 UCSF GRCh37 12 111099232 111099232 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 34 40 0 ENST00000356742.5:c.43G>A p.Val15Met p.V15M ENST00000356742 15 Gtg/Atg 0 -HVCN1 UCSF GRCh37 12 111099099 111099099 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 18 44 0 ENST00000356742.5:c.176C>T p.Pro59Leu p.P59L ENST00000356742 59 cCc/cTc 0 -HYDIN UCSF GRCh37 16 70867797 70867797 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 6 27 0 ENST00000393567.2:c.13672G>A p.Gly4558Ser p.G4558S ENST00000393567 NM_001270974.1 4558 Ggt/Agt 0 -HYDIN UCSF GRCh37 16 70871667 70871667 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 22 90 0 ENST00000393567.2:c.13168G>A p.Glu4390Lys p.E4390K ENST00000393567 NM_001270974.1 4390 Gaa/Aaa 0 -HYDIN UCSF GRCh37 16 70996005 70996005 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 141 24 122 0 ENST00000393567.2:c.5825C>T p.Ser1942Phe p.S1942F ENST00000393567 NM_001270974.1 1942 tCc/tTc 0 -HYDIN UCSF GRCh37 16 70972528 70972528 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 234 64 91 0 ENST00000393567.2:c.6984G>A p.Glu2328= p.E2328= ENST00000393567 NM_001270974.1 2328 gaG/gaA 0 -HYOU1 UCSF GRCh37 11 118922844 118922844 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 49 52 0 ENST00000404233.3:c.1163G>A p.Arg388Gln p.R388Q ENST00000404233 NM_001130991.1 388 cGg/cAg 0 -IBTK UCSF GRCh37 6 82912255 82912255 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 145 92 100 0 ENST00000306270.7:c.2719C>T p.Leu907Phe p.L907F ENST00000306270 NM_015525.2 907 Ctt/Ttt 0 -ICAM4 UCSF GRCh37 19 10398503 10398503 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 64 51 0 ENST00000340992.4:c.609C>T p.Tyr203= p.Y203= ENST00000340992 NM_001039132.2 203 taC/taT 0 -ICAM5 UCSF GRCh37 19 10402332 10402332 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 110 61 41 0 ENST00000221980.4:c.520C>T p.Pro174Ser p.P174S ENST00000221980 NM_003259.3 174 Ccc/Tcc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 26 75 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IDH3A UCSF GRCh37 15 78452452 78452452 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 55 70 0 ENST00000299518.2:c.193G>A p.Glu65Lys p.E65K ENST00000299518 NM_005530.2 65 Gag/Aag 0 -IFI44L UCSF GRCh37 1 79107151 79107151 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 43 49 0 ENST00000370751.5:c.1181C>T p.Pro394Leu p.P394L ENST00000370751 NM_006820.2 394 cCt/cTt 0 -IFIT1 UCSF GRCh37 10 91163308 91163308 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 39 73 0 ENST00000371804.3:c.1276G>A p.Val426Ile p.V426I ENST00000371804 NM_001270927.1 426 Gtt/Att 0 -IFRD2 UCSF GRCh37 3 50327620 50327620 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 54 44 0 ENST00000429673.2:c.561G>A p.Leu187= p.L187= ENST00000429673 187 ctG/ctA 0 -IFT122 UCSF GRCh37 3 129234339 129234339 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 29 34 0 ENST00000296266.3:c.3315G>A p.Val1105= p.V1105= ENST00000296266 NM_052985.3 1105 gtG/gtA 0 -IFT81 UCSF GRCh37 12 110600794 110600794 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 33 81 0 ENST00000242591.5:c.1112G>A p.Ser371Asn p.S371N ENST00000242591 NM_014055.3 371 aGc/aAc 0 -IGFBPL1 UCSF GRCh37 9 38411424 38411424 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 32 59 0 ENST00000377694.1:c.810C>T p.His270= p.H270= ENST00000377694 NM_001007563.2 270 caC/caT 0 -IGFN1 UCSF GRCh37 1 201190766 201190766 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 17 20 0 ENST00000335211.4:c.10093G>A p.Gly3365Arg p.G3365R ENST00000335211 NM_001164586.1 3365 Ggg/Agg 0 -IGFN1 UCSF GRCh37 1 201183324 201183324 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 17 31 0 ENST00000335211.4:c.8748C>T p.Ser2916= p.S2916= ENST00000335211 NM_001164586.1 2916 tcC/tcT 0 -IGSF3 UCSF GRCh37 1 117150657 117150657 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 124 48 159 0 ENST00000369483.1:c.1129C>T p.Arg377Trp p.R377W ENST00000369483 NM_001542.3 377 Cgg/Tgg 0 -IGSF9 UCSF GRCh37 1 159898250 159898250 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 13 6 9 0 ENST00000368094.1:c.2928C>T p.Ser976= p.S976= ENST00000368094 NM_001135050.1 976 tcC/tcT 0 -IKBIP UCSF GRCh37 12 99007524 99007524 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 55 94 0 ENST00000342502.2:c.892G>A p.Val298Ile p.V298I ENST00000342502 NM_201612.2 298 Gta/Ata 0 -IL17RD UCSF GRCh37 3 57131798 57131798 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 143 39 36 0 ENST00000296318.7:c.1933C>T p.Pro645Ser p.P645S ENST00000296318 NM_017563.3 645 Ccc/Tcc 0 -IL17RD UCSF GRCh37 3 57140020 57140020 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 151 39 89 0 ENST00000296318.7:c.612C>T p.Asn204= p.N204= ENST00000296318 NM_017563.3 204 aaC/aaT 0 -IL1F10 UCSF GRCh37 2 113832830 113832830 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 97 50 58 0 ENST00000393197.2:c.348C>T p.Ala116= p.A116= ENST00000393197 NM_032556.5 116 gcC/gcT 0 -IL1R2 UCSF GRCh37 2 102642637 102642637 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 88 44 88 0 ENST00000332549.3:c.952G>A p.Glu318Lys p.E318K ENST00000332549 NM_004633.3 318 Gag/Aag 0 -IL1RL1 UCSF GRCh37 2 102968206 102968206 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 33 59 0 ENST00000233954.1:c.1496C>T p.Ser499Phe p.S499F ENST00000233954 NM_016232.4 499 tCc/tTc 0 -IL27RA UCSF GRCh37 19 14160068 14160068 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 22 43 0 ENST00000263379.2:c.1344C>T p.His448= p.H448= ENST00000263379 NM_004843.3 448 caC/caT 0 -IL27RA UCSF GRCh37 19 14162973 14162973 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 4 10 0 ENST00000263379.2:c.1782G>A p.Pro594= p.P594= ENST00000263379 NM_004843.3 594 ccG/ccA 0 -ILVBL UCSF GRCh37 19 15234266 15234266 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 68 55 31 0 ENST00000263383.3:c.257A>C p.Glu86Ala p.E86A ENST00000263383 NM_006844.4 86 gAg/gCg 0 -IMPA1 UCSF GRCh37 8 82583203 82583203 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 15 24 0 ENST00000449740.2:c.714G>A p.Met238Ile p.M238I ENST00000449740 NM_001144878.1 238 atG/atA 0 -IMPDH1 UCSF GRCh37 7 128040521 128040521 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 14 12 0 ENST00000338791.6:c.652G>A p.Ala218Thr p.A218T ENST00000338791 NM_000883.3 218 Gcc/Acc 0 -IMPDH2 UCSF GRCh37 3 49065942 49065942 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 18 37 0 ENST00000326739.4:c.171G>A p.Lys57= p.K57= ENST00000326739 NM_000884.2 57 aaG/aaA 0 -INO80 UCSF GRCh37 15 41313250 41313250 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 50 57 0 ENST00000361937.3:c.3122G>A p.Gly1041Glu p.G1041E ENST00000361937 1041 gGa/gAa 0 -INPP4B UCSF GRCh37 4 143033752 143033752 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 75 56 92 0 ENST00000262992.4:c.2219A>G p.His740Arg p.H740R ENST00000262992 NM_001101669.1 740 cAt/cGt 0 -INPP5F UCSF GRCh37 10 121582651 121582651 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 12 22 36 0 ENST00000361976.2:c.2101G>A p.Ala701Thr p.A701T ENST00000361976 NM_014937.3 701 Gcg/Acg 0 -INPPL1 UCSF GRCh37 11 71940181 71940181 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 37 26 0 ENST00000298229.2:c.566G>A p.Ser189Asn p.S189N ENST00000298229 NM_001567.3 189 aGc/aAc 0 -INSRR UCSF GRCh37 1 156823907 156823907 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 35 26 0 ENST00000368195.3:c.274G>A p.Glu92Lys p.E92K ENST00000368195 NM_014215.2 92 Gag/Aag 0 -INSRR UCSF GRCh37 1 156815549 156815549 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 25 11 0 ENST00000368195.3:c.2036C>T p.Pro679Leu p.P679L ENST00000368195 NM_014215.2 679 cCt/cTt 0 -INTS1 UCSF GRCh37 7 1511251 1511251 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 59 76 0 ENST00000404767.3:c.6211G>A p.Asp2071Asn p.D2071N ENST00000404767 NM_001080453.2 2071 Gac/Aac 0 -INTS1 UCSF GRCh37 7 1516226 1516226 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 17 30 0 ENST00000404767.3:c.5131C>T p.Arg1711Trp p.R1711W ENST00000404767 NM_001080453.2 1711 Cgg/Tgg 0 -INTS5 UCSF GRCh37 11 62415154 62415154 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 131 64 41 0 ENST00000330574.2:c.2398G>A p.Gly800Arg p.G800R ENST00000330574 NM_030628.1 800 Ggg/Agg 0 -IQCC UCSF GRCh37 1 32673044 32673044 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 61 27 43 0 ENST00000537469.1:c.1002C>T p.Pro334= p.P334= ENST00000537469 NM_001160042.1 334 ccC/ccT 0 -IQCH UCSF GRCh37 15 67692463 67692463 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 28 48 0 ENST00000335894.4:c.1917G>A p.Gln639= p.Q639= ENST00000335894 NM_001031715.2 639 caG/caA 0 -IRAK1BP1 UCSF GRCh37 6 79607818 79607818 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 39 83 0 ENST00000369940.2:c.550C>T p.Arg184Cys p.R184C ENST00000369940 NM_001010844.3 184 Cgc/Tgc 0 -IRF9 UCSF GRCh37 14 24632661 24632661 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 81 135 0 ENST00000396864.3:c.439G>A p.Asp147Asn p.D147N ENST00000396864 NM_006084.4 147 Gat/Aat 0 -IRGC UCSF GRCh37 19 44222793 44222793 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 109 48 37 0 ENST00000244314.5:c.83G>A p.Arg28His p.R28H ENST00000244314 NM_019612.3 28 cGc/cAc 0 -IRS1 UCSF GRCh37 2 227663066 227663066 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 59 28 0 ENST00000305123.5:c.389G>A p.Gly130Glu p.G130E ENST00000305123 NM_005544.2 130 gGa/gAa 0 -IRS4 UCSF GRCh37 X 107977851 107977851 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 59 93 92 0 ENST00000372129.2:c.1724G>A p.Gly575Glu p.G575E ENST00000372129 NM_003604.2 575 gGa/gAa 0 -IRX5 UCSF GRCh37 16 54965234 54965234 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 13 14 0 ENST00000394636.4:c.124G>A p.Gly42Ser p.G42S ENST00000394636 42 Ggc/Agc 0 -ISX UCSF GRCh37 22 35463225 35463225 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.031,1000g2011may_all_0.06778,snp132_rs61739193 P05_Rec Untested WXS Illumina HiSeq 14 6 11 0 ENST00000308700.6:c.145C>T p.Pro49Ser p.P49S ENST00000308700 NM_001008494.1 49 Cca/Tca 0 -ITGA11 UCSF GRCh37 15 68654023 68654023 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 29 68 0 ENST00000315757.7:c.377C>T p.Ser126Phe p.S126F ENST00000315757 NM_001004439.1 126 tCt/tTt 0 -ITGA2 UCSF GRCh37 5 52361693 52361693 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 69 32 73 0 ENST00000296585.5:c.1829C>T p.Ala610Val p.A610V ENST00000296585 NM_002203.3 610 gCc/gTc 0 -ITGA3 UCSF GRCh37 17 48156278 48156278 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 45 66 0 ENST00000007722.7:c.2388G>A p.Lys796= p.K796= ENST00000007722 796 aaG/aaA 0 -ITGA7 UCSF GRCh37 12 56086663 56086663 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 6 22 0 ENST00000553804.1:c.2821G>A p.Val941Met p.V941M ENST00000553804 NM_001144996.1 941 Gtg/Atg 0 -ITGAE UCSF GRCh37 17 3662819 3662819 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 21 79 0 ENST00000263087.4:c.743G>A p.Gly248Glu p.G248E ENST00000263087 NM_002208.4 248 gGa/gAa 0 -ITGAM UCSF GRCh37 16 31341204 31341204 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 27 39 0 ENST00000544665.3:c.2957G>A p.Arg986His p.R986H ENST00000544665 NM_001145808.1 986 cGc/cAc 0 -ITGAX UCSF GRCh37 16 31392317 31392317 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 24 26 0 ENST00000268296.4:c.3376G>A p.Val1126Ile p.V1126I ENST00000268296 NM_000887.3 1126 Gta/Ata 0 -ITPR2 UCSF GRCh37 12 26493114 26493114 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 28 59 0 ENST00000381340.3:c.8005G>A p.Glu2669Lys p.E2669K ENST00000381340 NM_002223.2 2669 Gag/Aag 0 -ITPR3 UCSF GRCh37 6 33661398 33661398 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 36 30 0 ENST00000374316.5:c.7701C>T p.Asn2567= p.N2567= ENST00000374316 2567 aaC/aaT 0 -ITSN1 UCSF GRCh37 21 35153812 35153812 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 28 43 0 ENST00000381318.3:c.1644C>T p.Leu548= p.L548= ENST00000381318 NM_003024.2 548 ctC/ctT 0 -JAG1 UCSF GRCh37 20 10622514 10622514 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 135 70 105 0 ENST00000254958.5:c.2599G>A p.Gly867Arg p.G867R ENST00000254958 NM_000214.2 867 Ggg/Agg 0 -JAG2 UCSF GRCh37 14 105609353 105609353 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 3 13 0 ENST00000331782.3:c.3396C>T p.Asn1132= p.N1132= ENST00000331782 NM_002226.4 1132 aaC/aaT 0 -JAZF1 UCSF GRCh37 7 27880336 27880336 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 273 67 102 0 ENST00000283928.5:c.536G>A p.Gly179Glu p.G179E ENST00000283928 NM_175061.3 179 gGa/gAa 0 -JHDM1D UCSF GRCh37 7 139798772 139798772 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 97 34 62 0 ENST00000397560.2:c.1825G>A p.Asp609Asn p.D609N ENST00000397560 NM_030647.1 609 Gat/Aat 0 -JUP UCSF GRCh37 17 39919560 39919560 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 30 19 0 ENST00000393931.3:c.1172G>A p.Ser391Asn p.S391N ENST00000393931 NM_002230.2 391 aGt/aAt 0 -KANK4 UCSF GRCh37 1 62740403 62740403 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 30 43 0 ENST00000371153.4:c.373G>A p.Val125Met p.V125M ENST00000371153 NM_181712.4 125 Gtg/Atg 0 -KBTBD8 UCSF GRCh37 3 67054544 67054544 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 80 56 147 0 ENST00000417314.2:c.1153C>T p.Leu385Phe p.L385F ENST00000417314 385 Ctt/Ttt 0 -KCMF1 UCSF GRCh37 2 85276656 85276656 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 135 92 104 0 ENST00000409785.4:c.769C>T p.Arg257Cys p.R257C ENST00000409785 NM_020122.4 257 Cgt/Tgt 0 -KCMF1 UCSF GRCh37 2 85270743 85270743 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 36 58 0 ENST00000409785.4:c.381C>T p.Asp127= p.D127= ENST00000409785 NM_020122.4 127 gaC/gaT 0 -KCMT-ND3 UCSF GRCh37 1 112525199 112525199 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 72 27 0 ENST00000315987.2:c.150G>A p.Arg50= p.R50= ENST00000315987 NM_004980.4 50 agG/agA 0 -KCNG4 UCSF GRCh37 16 84270739 84270739 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 140 49 30 0 ENST00000308251.4:c.353G>A p.Ser118Asn p.S118N ENST00000308251 NM_172347.2 118 aGc/aAc 0 -KCNH8 UCSF GRCh37 3 19492678 19492678 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 135 58 132 0 ENST00000328405.2:c.1607C>T p.Ser536Phe p.S536F ENST00000328405 NM_144633.2 536 tCt/tTt 0 -KCNK2 UCSF GRCh37 1 215298076 215298076 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 124 67 152 0 ENST00000444842.2:c.458C>T p.Thr153Ile p.T153I ENST00000444842 NM_014217.3 153 aCt/aTt 0 -KCNQ2 UCSF GRCh37 20 62073779 62073779 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 238 126 156 0 ENST00000359125.2:c.796G>A p.Asp266Asn p.D266N ENST00000359125 NM_172107.2 266 Gat/Aat 0 -KCNQ2 UCSF GRCh37 20 62046413 62046413 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 35 24 0 ENST00000359125.2:c.1368G>A p.Gly456= p.G456= ENST00000359125 NM_172107.2 456 ggG/ggA 0 -KCNT1 UCSF GRCh37 9 138656883 138656883 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 21 25 0 ENST00000371757.2:c.1042G>A p.Glu348Lys p.E348K ENST00000371757 NM_020822.2 348 Gag/Aag 0 -KCTD19 UCSF GRCh37 16 67325605 67325605 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 23 33 0 ENST00000304372.5:c.2354C>T p.Thr785Ile p.T785I ENST00000304372 NM_001100915.1 785 aCc/aTc 0 -KCTD20 UCSF GRCh37 6 36454777 36454777 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 165 94 146 0 ENST00000373731.2:c.1085G>A p.Ser362Asn p.S362N ENST00000373731 NM_173562.3 362 aGt/aAt 0 -KCTD6 UCSF GRCh37 3 58487273 58487273 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 19 46 0 ENST00000355076.6:c.628G>A p.Val210Met p.V210M ENST00000355076 NM_153331.3 210 Gtg/Atg 0 -KDR UCSF GRCh37 4 55955592 55955592 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 18 26 0 ENST00000263923.4:c.3353G>A p.Arg1118Gln p.R1118Q ENST00000263923 NM_002253.2 1118 cGa/cAa 0 -KEL UCSF GRCh37 7 142641460 142641460 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 32 55 0 ENST00000355265.2:c.1441G>A p.Ala481Thr p.A481T ENST00000355265 NM_000420.2 481 Gct/Act 0 -KIAA0020 UCSF GRCh37 9 2804383 2804383 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 33 69 0 ENST00000397885.2:c.1895C>A p.Thr632Asn p.T632N ENST00000397885 NM_014878.4 632 aCc/aAc 0 -KIAA0182 UCSF GRCh37 16 85699735 85699735 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 99 38 52 0 ENST00000253458.7:c.2912G>A p.Gly971Glu p.G971E ENST00000253458 NM_014615.3 971 gGg/gAg 0 -KIAA0319L UCSF GRCh37 1 35972342 35972342 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 55 108 0 ENST00000325722.3:c.537G>A p.Gln179= p.Q179= ENST00000325722 NM_024874.4 179 caG/caA 0 -KIAA0430 UCSF GRCh37 16 15709764 15709764 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 45 78 0 ENST00000396368.3:c.3176G>A p.Gly1059Asp p.G1059D ENST00000396368 NM_001184998.1 1059 gGt/gAt 0 -KIAA0430 UCSF GRCh37 16 15715650 15715650 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 59 30 37 0 ENST00000396368.3:c.2579G>A p.Ser860Asn p.S860N ENST00000396368 NM_001184998.1 860 aGc/aAc 0 -KIAA0494 UCSF GRCh37 1 47173724 47173724 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 35 43 0 ENST00000371933.3:c.335-1G>A p.X112_splice ENST00000371933 NM_014774.2 0 -MACF1 UCSF GRCh37 1 39878149 39878149 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 55 90 0 ENST00000530275.1:c.1804C>T p.His602Tyr p.H602Y ENST00000530275 NM_015038.1 602 Cat/Tat 0 -MACF1 UCSF GRCh37 1 39879913 39879913 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 27 21 0 ENST00000530275.1:c.3568G>A p.Val1190Met p.V1190M ENST00000530275 NM_015038.1 1190 Gtg/Atg 0 -KIAA1009 UCSF GRCh37 6 84862522 84862522 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 220 141 232 0 ENST00000403245.3:c.3371C>T p.Ser1124Leu p.S1124L ENST00000403245 NM_014895.2 1124 tCa/tTa 0 -KIAA1024 UCSF GRCh37 15 79749460 79749460 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 142 90 157 0 ENST00000305428.3:c.971G>A p.Arg324Lys p.R324K ENST00000305428 NM_015206.2 324 aGg/aAg 0 -KIAA1024 UCSF GRCh37 15 79760642 79760642 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 17 34 0 ENST00000305428.3:c.2667C>T p.Val889= p.V889= ENST00000305428 NM_015206.2 889 gtC/gtT 0 -KIAA1033 UCSF GRCh37 12 105534999 105534999 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 56 91 0 ENST00000332180.5:c.1762G>A p.Asp588Asn p.D588N ENST00000332180 NM_015275.1 588 Gat/Aat 0 -BLTP1 UCSF GRCh37 4 123268748 123268748 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 47 57 0 ENST00000264501.4:c.12943G>A p.Ala4315Thr p.A4315T ENST00000264501 4315 Gct/Act 0 -KIAA1147 UCSF GRCh37 7 141386458 141386458 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 34 68 0 ENST00000536163.1:c.269G>A p.Gly90Glu p.G90E ENST00000536163 NM_001080392.1 90 gGa/gAa 0 -KIAA1239 UCSF GRCh37 4 37440874 37440874 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 146 72 162 0 ENST00000309447.5:c.1158C>T p.Phe386= p.F386= ENST00000309447 NM_001144990.1 386 ttC/ttT 0 -KIAA1267 UCSF GRCh37 17 44249494 44249494 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 36 26 0 ENST00000262419.6:c.16C>T p.Pro6Ser p.P6S ENST00000262419 NM_001193466.1 6 Ccc/Tcc 0 -KIAA1279 UCSF GRCh37 10 70748592 70748592 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 62 37 0 ENST00000361983.4:c.4G>A p.Ala2Thr p.A2T ENST00000361983 NM_015634.3 2 Gcg/Acg 0 -KIAA1407 UCSF GRCh37 3 113729717 113729717 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 94 74 105 0 ENST00000295878.3:c.1315G>A p.Ala439Thr p.A439T ENST00000295878 NM_020817.1 439 Gca/Aca 0 -KIAA1462 UCSF GRCh37 10 30316188 30316188 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 148 58 77 0 ENST00000375377.1:c.2889C>T p.Asn963= p.N963= ENST00000375377 NM_020848.2 963 aaC/aaT 0 -KIAA1530 UCSF GRCh37 4 1348558 1348558 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 24 19 23 0 ENST00000389851.4:c.970G>A p.Ala324Thr p.A324T ENST00000389851 NM_020894.2 324 Gct/Act 0 -KIAA1549 UCSF GRCh37 7 138595914 138595914 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 133 27 106 0 ENST00000422774.1:c.3123G>A p.Glu1041= p.E1041= ENST00000422774 1041 gaG/gaA 0 -KIAA1671 UCSF GRCh37 22 25577768 25577768 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 26 19 0 ENST00000358431.3:c.5177G>A p.Gly1726Asp p.G1726D ENST00000358431 NM_001145206.1 1726 gGc/gAc 0 -KIAA1683 UCSF GRCh37 19 18377383 18377383 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 56 76 0 ENST00000392413.4:c.967C>T p.Pro323Ser p.P323S ENST00000392413 NM_001145304.1 323 Ccc/Tcc 0 -KIAA1751 UCSF GRCh37 1 1905497 1905497 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 17 11 0 ENST00000270720.7:n.797G>A *266* ENST00000270720 0 -KIAA1751 UCSF GRCh37 1 1900103 1900104 + non_coding_transcript_exon_variant RNA INS - - TCT NOVEL P05_Rec Untested WXS Illumina HiSeq 6 0 ENST00000270720.7:n.1372_1373insGAA *458* ENST00000270720 0 -KIAA1804 UCSF GRCh37 1 233511670 233511670 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 40 21 46 0 ENST00000366624.3:c.1684G>A p.Asp562Asn p.D562N ENST00000366624 NM_032435.2 562 Gat/Aat 0 -KIAA2018 UCSF GRCh37 3 113377353 113377353 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 143 48 161 0 ENST00000316407.4:c.3176G>A p.Arg1059Lys p.R1059K ENST00000316407 NM_001009899.2 1059 aGa/aAa 0 -KIAA2018 UCSF GRCh37 3 113377515 113377515 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 60 137 0 ENST00000316407.4:c.3014C>T p.Thr1005Ile p.T1005I ENST00000316407 NM_001009899.2 1005 aCt/aTt 0 -KIAA2022 UCSF GRCh37 X 73962030 73962030 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 123 70 140 0 ENST00000055682.6:c.2362C>T p.Leu788= p.L788= ENST00000055682 NM_001008537.2 788 Cta/Tta 0 -KIF18B UCSF GRCh37 17 43009482 43009482 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 20 48 0 ENST00000593135.1:c.1331G>A p.Gly444Glu p.G444E ENST00000593135 NM_001265577.1 444 gGg/gAg 0 -KIF1B UCSF GRCh37 1 10386370 10386370 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 92 54 59 0 ENST00000263934.6:c.2739G>A p.Gly913= p.G913= ENST00000263934 NM_015074.3 913 ggG/ggA 0 -KIF21B UCSF GRCh37 1 200945916 200945916 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 23 18 16 0 ENST00000422435.2:c.4431C>T p.Asp1477= p.D1477= ENST00000422435 NM_001252100.1 1477 gaC/gaT 0 -KIF23 UCSF GRCh37 15 69728990 69728990 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 40 41 0 ENST00000260363.4:c.1484C>T p.Pro495Leu p.P495L ENST00000260363 NM_138555.3 495 cCa/cTa 0 -KIF24 UCSF GRCh37 9 34256456 34256456 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 121 73 87 0 ENST00000379166.2:c.3149C>T p.Ser1050Phe p.S1050F ENST00000379166 NM_194313.2 1050 tCt/tTt 0 -KIF26A UCSF GRCh37 14 104641411 104641411 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 13 9 0 ENST00000423312.2:c.2286G>A p.Val762= p.V762= ENST00000423312 NM_015656.1 762 gtG/gtA 0 -KIF26B UCSF GRCh37 1 245849530 245849530 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 133 72 63 0 ENST00000407071.2:c.3245C>T p.Pro1082Leu p.P1082L ENST00000407071 NM_018012.3 1082 cCc/cTc 0 -KIF2C UCSF GRCh37 1 45232509 45232509 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 39 22 46 0 ENST00000372224.4:c.1983C>T p.Asp661= p.D661= ENST00000372224 NM_006845.3 661 gaC/gaT 0 -KIF6 UCSF GRCh37 6 39398905 39398905 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 11 32 0 ENST00000287152.7:c.1678G>A p.Glu560Lys p.E560K ENST00000287152 NM_145027.4 560 Gag/Aag 0 -KIFC3 UCSF GRCh37 16 57805320 57805320 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 332 121 87 0 ENST00000379655.4:c.555C>T p.Ser185= p.S185= ENST00000379655 NM_005550.3 185 tcC/tcT 0 -KIT UCSF GRCh37 4 55573358 55573358 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 23 55 0 ENST00000288135.5:c.1020C>T p.Phe340= p.F340= ENST00000288135 NM_000222.2 340 ttC/ttT 0 -KLF11 UCSF GRCh37 2 10188080 10188080 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 52 99 0 ENST00000305883.1:c.616C>T p.Gln206Ter p.Q206* ENST00000305883 NM_003597.4 206 Cag/Tag 0 -KLHDC7A UCSF GRCh37 1 18808738 18808738 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 46 22 0 ENST00000400664.1:c.1263C>T p.Thr421= p.T421= ENST00000400664 NM_152375.2 421 acC/acT 0 -KLHDC7A UCSF GRCh37 1 18808561 18808561 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 28 28 19 0 ENST00000400664.1:c.1086G>A p.Arg362= p.R362= ENST00000400664 NM_152375.2 362 cgG/cgA 0 -KLHDC8A UCSF GRCh37 1 205306545 205306545 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 34 61 0 ENST00000367156.3:c.1035G>A p.Leu345= p.L345= ENST00000367156 NM_001271863.1 345 ctG/ctA 0 -KLHL18 UCSF GRCh37 3 47361194 47361194 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 46 89 0 ENST00000232766.5:c.181C>T p.Pro61Ser p.P61S ENST00000232766 NM_025010.4 61 Ccg/Tcg 0 -KLHL8 UCSF GRCh37 4 88116599 88116599 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 54 98 0 ENST00000273963.5:c.93C>T p.Ser31= p.S31= ENST00000273963 NM_020803.3 31 tcC/tcT 0 -KLHL9 UCSF GRCh37 9 21333274 21333274 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 137 109 201 0 ENST00000359039.4:c.1585G>A p.Ala529Thr p.A529T ENST00000359039 529 Gcc/Acc 0 -KLHL9 UCSF GRCh37 9 21334451 21334451 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 130 15 76 0 ENST00000359039.4:c.408C>T p.Pro136= p.P136= ENST00000359039 136 ccC/ccT 0 -KLK1 UCSF GRCh37 19 51325008 51325008 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 11 20 0 ENST00000301420.2:c.166C>T p.His56Tyr p.H56Y ENST00000301420 NM_002257.3 56 Cac/Tac 0 -KLRAQ1 UCSF GRCh37 2 48688356 48688356 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 27 43 0 ENST00000294952.8:c.679C>T p.Pro227Ser p.P227S ENST00000294952 NM_001135629.2 227 Cct/Tct 0 -KPNA1 UCSF GRCh37 3 122172726 122172726 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 11 39 0 ENST00000344337.6:c.555C>T p.Val185= p.V185= ENST00000344337 NM_002264.3 185 gtC/gtT 0 -KPTN UCSF GRCh37 19 47978723 47978723 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 14 8 0 ENST00000338134.3:c.1261G>A p.Gly421Arg p.G421R ENST00000338134 NM_007059.2 421 Ggg/Agg 0 -KPTN UCSF GRCh37 19 47987232 47987232 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 45 21 0 ENST00000338134.3:c.186C>T p.Ile62= p.I62= ENST00000338134 NM_007059.2 62 atC/atT 0 -KRT10 UCSF GRCh37 17 38978210 38978210 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 54 130 0 ENST00000269576.5:c.627+1G>A p.X209_splice ENST00000269576 NM_000421.3 0 -KRT12 UCSF GRCh37 17 39019780 39019780 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 48 45 0 ENST00000251643.4:c.1052C>T p.Ala351Val p.A351V ENST00000251643 NM_000223.3 351 gCc/gTc 0 -KRT24 UCSF GRCh37 17 38859558 38859558 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 166 99 115 0 ENST00000264651.2:c.388G>A p.Val130Ile p.V130I ENST00000264651 NM_019016.2 130 Gtt/Att 0 -KRT33A UCSF GRCh37 17 39506671 39506671 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 48 67 0 ENST00000007735.3:c.348+1G>A p.X116_splice ENST00000007735 NM_004138.3 0 -KRT33A UCSF GRCh37 17 39503373 39503373 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 57 34 49 0 ENST00000007735.3:c.690T>C p.Ser230= p.S230= ENST00000007735 NM_004138.3 230 agT/agC 0 -KRT85 UCSF GRCh37 12 52756135 52756135 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 89 50 61 0 ENST00000257901.3:c.1198G>A p.Ala400Thr p.A400T ENST00000257901 NM_002283.3 400 Gcc/Acc 0 -KRTAP4-8 UCSF GRCh37 17 39254082 39254082 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 130 45 47 0 ENST00000333822.4:c.255C>T p.Cys85= p.C85= ENST00000333822 NM_031960.2 85 tgC/tgT 0 -KRTAP9-1 UCSF GRCh37 17 39346626 39346627 + protein_altering_variant In_Frame_Ins INS - - GTGGGTCCAGCTGCTGCCAGCCTTGCT NOVEL P05_Rec Untested WXS Illumina HiSeq 8 0 ENST00000398470.1:c.488_489insGTGGGTCCAGCTGCTGCCAGCCTTGCT p.Cys163delinsTrpTrpValGlnLeuLeuProAlaLeuLeu p.C163delinsWWVQLLPALL ENST00000398470 NM_001190460.1 163 tgc/tgGTGGGTCCAGCTGCTGCCAGCCTTGCTc 0 -KRTDAP UCSF GRCh37 19 35981326 35981326 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 21 31 0 ENST00000338897.3:c.19C>T p.Pro7Ser p.P7S ENST00000338897 NM_207392.2 7 Cct/Tct 0 -KTI12 UCSF GRCh37 1 52498894 52498894 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 126 65 53 0 ENST00000371614.1:c.540G>A p.Gly180= p.G180= ENST00000371614 NM_138417.2 180 ggG/ggA 0 -L3MBTL2 UCSF GRCh37 22 41621036 41621036 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 19 40 34 0 ENST00000216237.5:c.1317C>T p.Pro439= p.P439= ENST00000216237 NM_031488.4 439 ccC/ccT 0 -LAMA1 UCSF GRCh37 18 7043231 7043231 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 72 139 0 ENST00000389658.3:c.1150C>T p.His384Tyr p.H384Y ENST00000389658 NM_005559.3 384 Cac/Tac 0 -LAMB1 UCSF GRCh37 7 107601033 107601033 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 30 55 0 ENST00000222399.6:c.2171G>A p.Gly724Glu p.G724E ENST00000222399 NM_002291.2 724 gGg/gAg 0 -LAMB2 UCSF GRCh37 3 49168206 49168206 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 126 43 84 0 ENST00000418109.1:c.1003C>T p.Pro335Ser p.P335S ENST00000418109 NM_002292.3 335 Ccg/Tcg 0 -LAMB2 UCSF GRCh37 3 49160387 49160387 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 38 38 0 ENST00000418109.1:c.4323C>T p.Ser1441= p.S1441= ENST00000418109 NM_002292.3 1441 agC/agT 0 -LAMC3 UCSF GRCh37 9 133961052 133961052 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 24 31 0 ENST00000361069.4:c.4172C>T p.Ser1391Phe p.S1391F ENST00000361069 NM_006059.3 1391 tCc/tTc 0 -LAMC3 UCSF GRCh37 9 133944397 133944397 + stop_gained Nonsense_Mutation SNP C C A NOVEL P05_Rec Untested WXS Illumina HiSeq 144 50 37 0 ENST00000361069.4:c.2850C>A p.Cys950Ter p.C950* ENST00000361069 NM_006059.3 950 tgC/tgA 0 -LARP1 UCSF GRCh37 5 154181876 154181876 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 21 28 54 0 ENST00000336314.4:c.1795G>A p.Ala599Thr p.A599T ENST00000336314 NM_015315.4 599 Gcc/Acc 0 -LARP1B UCSF GRCh37 4 129012618 129012618 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 24 65 0 ENST00000326639.6:c.619G>A p.Val207Met p.V207M ENST00000326639 NM_018078.3 207 Gtg/Atg 0 -LATS2 UCSF GRCh37 13 21555650 21555650 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 18 51 0 ENST00000382592.4:c.2620G>A p.Val874Met p.V874M ENST00000382592 NM_014572.2 874 Gtg/Atg 0 -LAX1 UCSF GRCh37 1 203743271 203743271 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 29 57 0 ENST00000442561.2:c.659C>T p.Pro220Leu p.P220L ENST00000442561 NM_017773.3 220 cCc/cTc 0 -LAYN UCSF GRCh37 11 111414791 111414791 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 45 71 0 ENST00000375615.3:c.253G>A p.Asp85Asn p.D85N ENST00000375615 NM_001258390.1 85 Gat/Aat 0 -LAYN UCSF GRCh37 11 111425932 111425932 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 36 82 0 ENST00000375615.3:c.599G>A p.Gly200Asp p.G200D ENST00000375615 NM_001258390.1 200 gGt/gAt 0 -LCA5L UCSF GRCh37 21 40777899 40777899 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 29 36 0 ENST00000358268.2:c.1922C>T p.Thr641Ile p.T641I ENST00000358268 641 aCc/aTc 0 -LCA5L UCSF GRCh37 21 40778307 40778307 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 34 88 0 ENST00000358268.2:c.1514C>T p.Thr505Ile p.T505I ENST00000358268 505 aCa/aTa 0 -LCE1E UCSF GRCh37 1 152760093 152760093 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.064,1000g2011may_all_0.1443,snp132_rs112600788 P05_Rec Untested WXS Illumina HiSeq 100 15 24 0 ENST00000368770.3:c.318T>C p.Cys106= p.C106= ENST00000368770 NM_178353.1 106 tgT/tgC 0 -LCE5A UCSF GRCh37 1 152484018 152484018 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 112 61 71 0 ENST00000334269.2:c.8G>A p.Cys3Tyr p.C3Y ENST00000334269 NM_178438.4 3 tGc/tAc 0 -LCK UCSF GRCh37 1 32751132 32751132 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 21 42 0 ENST00000336890.5:c.1345G>A p.Val449Met p.V449M ENST00000336890 NM_005356.3 449 Gtg/Atg 0 -LCN10 UCSF GRCh37 9 139635365 139635365 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 35 30 0 ENST00000497771.1:c.398C>T p.Ser133Phe p.S133F ENST00000497771 NM_001001712.2 133 tCc/tTc 0 -LEMD1 UCSF GRCh37 1 205385359 205385359 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 45 39 0 ENST00000367153.4:c.270+1G>A p.X90_splice ENST00000367153 NM_001199050.1 0 -LEO1 UCSF GRCh37 15 52258437 52258437 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 146 76 135 0 ENST00000299601.5:c.323G>A p.Ser108Asn p.S108N ENST00000299601 NM_138792.2 108 aGt/aAt 0 -LETMD1 UCSF GRCh37 12 51445875 51445875 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 107 41 116 0 ENST00000418425.2:c.275G>A p.Gly92Glu p.G92E ENST00000418425 NM_001243689.1 92 gGa/gAa 0 -LILRB3 UCSF GRCh37 19 54725744 54725744 + stop_gained Nonsense_Mutation SNP C C T 1000g2011may_all_0.0238,snp132_rs59533602 P05_Rec Untested WXS Illumina HiSeq 45 8 24 0 ENST00000245620.9:c.614G>A p.Trp205Ter p.W205* ENST00000245620 205 tGg/tAg 0 -LILRB3 UCSF GRCh37 19 54725755 54725755 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.020,1000g2011may_all_0.1385,snp132_rs1052971 P05_Rec Untested WXS Illumina HiSeq 43 7 20 1 ENST00000245620.9:c.603A>G p.Thr201= p.T201= ENST00000245620 201 acA/acG 0 -LILRB4 UCSF GRCh37 19 55175893 55175893 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 99 45 70 0 ENST00000391736.1:c.612C>T p.Tyr204= p.Y204= ENST00000391736 NM_001278430.2 204 taC/taT 0 -LIMCH1 UCSF GRCh37 4 41648199 41648199 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 51 62 0 ENST00000313860.7:c.1158G>A p.Glu386= p.E386= ENST00000313860 NM_014988.2 386 gaG/gaA 0 -LINGO2 UCSF GRCh37 9 27948893 27948893 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 86 46 82 0 ENST00000379992.2:c.1777G>A p.Gly593Arg p.G593R ENST00000379992 NM_152570.2 593 Ggg/Agg 0 -LINS UCSF GRCh37 15 101114038 101114038 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 95 44 142 0 ENST00000314742.8:c.1040C>T p.Ser347Leu p.S347L ENST00000314742 NM_001040616.2 347 tCg/tTg 0 -LMBRD2 UCSF GRCh37 5 36143394 36143394 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 33 40 0 ENST00000296603.4:c.58C>T p.Leu20= p.L20= ENST00000296603 NM_001007527.1 20 Ctg/Ttg 0 -LMLN UCSF GRCh37 3 197748316 197748316 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 88 26 122 0 ENST00000420910.2:c.1477-1G>A p.X493_splice ENST00000420910 NM_001136049.2 0 -LMTK2 UCSF GRCh37 7 97821211 97821211 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 36 57 0 ENST00000297293.5:c.1434G>A p.Trp478Ter p.W478* ENST00000297293 NM_014916.3 478 tgG/tgA 0 -LOC100130357 UCSF GRCh37 6 13281226 13281226 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 34 58 0 ENST00000606150.1:n.606C>T *202* ENST00000606150 0 -LOC100653515 UCSF GRCh37 17 76887469 76887469 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 61 75 0 ENST00000322630.2:c.1117C>T p.Pro373Ser p.P373S ENST00000322630 NM_001243540.1 373 Cct/Tct 0 -LOC81691 UCSF GRCh37 16 20837259 20837259 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 32 70 0 ENST00000261377.6:c.810C>T p.Asp270= p.D270= ENST00000261377 NM_030941.2 270 gaC/gaT 0 -LOXL1 UCSF GRCh37 15 74239441 74239441 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 22 51 0 ENST00000261921.7:c.1383C>T p.Tyr461= p.Y461= ENST00000261921 NM_005576.2 461 taC/taT 0 -LPHN1 UCSF GRCh37 19 14271099 14271099 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 23 17 0 ENST00000340736.6:c.1640G>A p.Gly547Glu p.G547E ENST00000340736 NM_001008701.2 547 gGg/gAg 0 -LPP UCSF GRCh37 3 188327481 188327481 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 43 83 0 ENST00000312675.4:c.962G>A p.Gly321Asp p.G321D ENST00000312675 NM_005578.3 321 gGt/gAt 0 -LRIG3 UCSF GRCh37 12 59271268 59271268 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 24 56 0 ENST00000320743.3:c.2450G>A p.Cys817Tyr p.C817Y ENST00000320743 NM_153377.4 817 tGc/tAc 0 -LRP1 UCSF GRCh37 12 57599204 57599204 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 37 22 0 ENST00000243077.3:c.11406G>A p.Glu3802= p.E3802= ENST00000243077 NM_002332.2 3802 gaG/gaA 0 -LRP1B UCSF GRCh37 2 141115574 141115574 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 43 72 0 ENST00000389484.3:c.11369G>A p.Gly3790Asp p.G3790D ENST00000389484 NM_018557.2 3790 gGt/gAt 0 -LRP2 UCSF GRCh37 2 170136105 170136105 + missense_variant,splice_region_variant Missense_Mutation SNP C C A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 24 34 0 ENST00000263816.3:c.1342G>T p.Val448Phe p.V448F ENST00000263816 NM_004525.2 448 Gtt/Ttt 0 -LRRC16B UCSF GRCh37 14 24531705 24531705 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 111 80 105 0 ENST00000342740.5:c.2497G>A p.Val833Ile p.V833I ENST00000342740 NM_138360.3 833 Gtc/Atc 0 -LRRC37A3 UCSF GRCh37 17 62856791 62856791 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 151 100 141 0 ENST00000584306.1:c.3473G>A p.Gly1158Asp p.G1158D ENST00000584306 NM_199340.2 1158 gGc/gAc 0 -LRRC37B UCSF GRCh37 17 30374838 30374838 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 177 107 160 0 ENST00000341671.7:c.2301G>A p.Arg767= p.R767= ENST00000341671 NM_052888.2 767 cgG/cgA 0 -LRRC48 UCSF GRCh37 17 17907751 17907751 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 43 71 0 ENST00000313838.8:c.1074C>T p.Ile358= p.I358= ENST00000313838 NM_001130090.1 358 atC/atT 0 -LRRC4C UCSF GRCh37 11 40136757 40136757 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 52 100 0 ENST00000278198.2:c.1086C>T p.Asp362= p.D362= ENST00000278198 362 gaC/gaT 0 -LRRC59 UCSF GRCh37 17 48474579 48474579 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 41 22 0 ENST00000225972.7:c.100G>A p.Glu34Lys p.E34K ENST00000225972 NM_018509.3 34 Gag/Aag 0 -LRRC61 UCSF GRCh37 7 150034385 150034385 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 81 25 31 0 ENST00000359623.4:c.435C>T p.Ser145= p.S145= ENST00000359623 NM_001142928.1 145 tcC/tcT 0 -LRRC7 UCSF GRCh37 1 70541956 70541956 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 33 68 0 ENST00000035383.5:c.4313G>A p.Arg1438Lys p.R1438K ENST00000035383 NM_020794.2 1438 aGg/aAg 0 -LRRC71 UCSF GRCh37 1 156899150 156899150 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 25 53 0 ENST00000337428.7:c.1075G>A p.Val359Met p.V359M ENST00000337428 NM_144702.2 359 Gtg/Atg 0 -LRRC8E UCSF GRCh37 19 7964090 7964090 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 33 35 0 ENST00000306708.6:c.683G>A p.Gly228Asp p.G228D ENST00000306708 NM_025061.4 228 gGt/gAt 0 -LRRFIP1 UCSF GRCh37 2 238671627 238671627 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 35 103 0 ENST00000392000.4:c.1271G>A p.Gly424Glu p.G424E ENST00000392000 NM_001137552.1 424 gGa/gAa 0 -LRRN4CL UCSF GRCh37 11 62455781 62455781 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 18 7 8 0 ENST00000317449.4:c.200G>A p.Gly67Glu p.G67E ENST00000317449 NM_203422.3 67 gGg/gAg 0 -LRTM1 UCSF GRCh37 3 54958759 54958759 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 29 74 0 ENST00000273286.5:c.491C>T p.Ala164Val p.A164V ENST00000273286 NM_020678.2 164 gCg/gTg 0 -LSM12 UCSF GRCh37 17 42141194 42141194 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 27 19 45 0 ENST00000591247.1:c.233C>T p.Pro78Leu p.P78L ENST00000591247 NM_152344.3 78 cCc/cTc 0 -LSR UCSF GRCh37 19 35739826 35739826 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 36 25 0 ENST00000361790.3:c.45G>A p.Gly15= p.G15= ENST00000361790 NM_205834.3 15 ggG/ggA 0 -LTBP1 UCSF GRCh37 2 33623560 33623560 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 33 68 0 ENST00000404816.2:c.5114G>A p.Cys1705Tyr p.C1705Y ENST00000404816 1705 tGc/tAc 0 -LUZP4 UCSF GRCh37 X 114537919 114537919 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 84 105 0 ENST00000371920.3:c.278C>T p.Ser93Phe p.S93F ENST00000371920 NM_016383.3 93 tCc/tTc 0 -LY6D UCSF GRCh37 8 143866676 143866676 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 16 11 0 ENST00000301263.4:c.348C>T p.Ala116= p.A116= ENST00000301263 NM_003695.2 116 gcC/gcT 0 -LY6G6F UCSF GRCh37 6 31675728 31675728 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 30 77 0 ENST00000375832.4:c.463G>A p.Asp155Asn p.D155N ENST00000375832 NM_001003693.1 155 Gac/Aac 0 -LY75 UCSF GRCh37 2 160738710 160738710 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 94 65 110 0 ENST00000504764.1:c.1171G>A p.Ala391Thr p.A391T ENST00000504764 NM_001198759.1 391 Gcc/Acc 0 -LY9 UCSF GRCh37 1 160793410 160793410 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 51 71 0 ENST00000263285.6:c.1654G>A p.Val552Met p.V552M ENST00000263285 552 Gtg/Atg 0 -LY9 UCSF GRCh37 1 160784304 160784304 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 24 49 0 ENST00000263285.6:c.825G>A p.Arg275= p.R275= ENST00000263285 275 cgG/cgA 0 -LYZL1 UCSF GRCh37 10 29581576 29581576 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 34 79 0 ENST00000375500.3:c.406G>A p.Glu136Lys p.E136K ENST00000375500 NM_032517.4 136 Gag/Aag 0 -LZIC UCSF GRCh37 1 9995591 9995591 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 118 60 106 0 ENST00000377223.1:c.196G>A p.Gly66Arg p.G66R ENST00000377223 66 Gga/Aga 0 -LZTS2 UCSF GRCh37 10 102763808 102763808 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 23 28 0 ENST00000370220.1:c.953C>T p.Pro318Leu p.P318L ENST00000370220 318 cCt/cTt 0 -MACF1 UCSF GRCh37 1 39823224 39823224 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 33 64 0 ENST00000545844.1:c.5416G>A p.Glu1806Lys p.E1806K ENST00000545844 1806 Gaa/Aaa 0 -MACF1 UCSF GRCh37 1 39905119 39905119 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 25 66 0 ENST00000545844.1:c.12217G>A p.Glu4073Lys p.E4073K ENST00000545844 4073 Gaa/Aaa 0 -MACF1 UCSF GRCh37 1 39916782 39916782 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 37 70 0 ENST00000545844.1:c.14140G>A p.Ala4714Thr p.A4714T ENST00000545844 4714 Gca/Aca 0 -MAD1L1 UCSF GRCh37 7 2054237 2054237 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 12 12 0 ENST00000406869.1:c.1259G>A p.Ser420Asn p.S420N ENST00000406869 420 aGc/aAc 0 -MAG UCSF GRCh37 19 35786832 35786832 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 163 108 91 0 ENST00000392213.3:c.363G>A p.Leu121= p.L121= ENST00000392213 NM_002361.3 121 ctG/ctA 0 -MAGEE2 UCSF GRCh37 X 75004566 75004566 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 22 31 0 ENST00000373359.2:c.321G>A p.Gly107= p.G107= ENST00000373359 NM_138703.4 107 ggG/ggA 0 -MAGI2 UCSF GRCh37 7 78131015 78131015 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 120 29 61 0 ENST00000354212.4:c.844G>A p.Glu282Lys p.E282K ENST00000354212 NM_012301.3 282 Gag/Aag 0 -MALL UCSF GRCh37 2 110849244 110849244 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 20 93 0 ENST00000272462.2:c.209C>T p.Ser70Phe p.S70F ENST00000272462 NM_005434.4 70 tCc/tTc 0 -MALL UCSF GRCh37 2 110849239 110849239 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 83 19 90 0 ENST00000272462.2:c.214A>C p.Met72Leu p.M72L ENST00000272462 NM_005434.4 72 Atg/Ctg 0 -MAN1A1 UCSF GRCh37 6 119623264 119623264 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 19 39 0 ENST00000368468.3:c.705C>T p.Asn235= p.N235= ENST00000368468 NM_005907.3 235 aaC/aaT 0 -MAN2C1 UCSF GRCh37 15 75648258 75648258 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 27 19 0 ENST00000565683.1:c.3163C>T p.Pro1055Ser p.P1055S ENST00000565683 NM_001256494.1 1055 Ccg/Tcg 0 -MANSC1 UCSF GRCh37 12 12483769 12483769 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 32 91 0 ENST00000535902.1:c.488C>T p.Pro163Leu p.P163L ENST00000535902 163 cCc/cTc 0 -MAP1A UCSF GRCh37 15 43822285 43822285 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 48 77 0 ENST00000300231.5:c.8275C>T p.His2759Tyr p.H2759Y ENST00000300231 2759 Cat/Tat 0 -MAP1A UCSF GRCh37 15 43821976 43821976 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 36 27 0 ENST00000300231.5:c.8164G>A p.Val2722Ile p.V2722I ENST00000300231 2722 Gtc/Atc 0 -MAP2 UCSF GRCh37 2 210559366 210559366 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 137 71 123 0 ENST00000360351.4:c.2472A>G p.Ala824= p.A824= ENST00000360351 NM_002374.3 824 gcA/gcG 0 -MAP3K12 UCSF GRCh37 12 53881086 53881086 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 42 39 0 ENST00000547035.1:c.90C>T p.Asp30= p.D30= ENST00000547035 30 gaC/gaT 0 -MAP3K13 UCSF GRCh37 3 185161342 185161342 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 29 89 0 ENST00000265026.3:c.769G>A p.Val257Ile p.V257I ENST00000265026 NM_004721.4 257 Gta/Ata 0 -MAP3K15 UCSF GRCh37 X 19478195 19478195 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 63 122 0 ENST00000338883.4:c.796G>A p.Glu266Lys p.E266K ENST00000338883 NM_001001671.3 266 Gag/Aag 0 -MAP3K2 UCSF GRCh37 2 128075877 128075877 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 74 118 0 ENST00000409947.1:c.1062C>T p.Thr354= p.T354= ENST00000409947 354 acC/acT 0 -MAP3K6 UCSF GRCh37 1 27690766 27690766 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 31 29 0 ENST00000493901.1:c.624G>A p.Gly208= p.G208= ENST00000493901 NM_004672.3 208 ggG/ggA 0 -MAP4K1 UCSF GRCh37 19 39086617 39086617 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 56 66 0 ENST00000591517.1:c.2141C>T p.Thr714Ile p.T714I ENST00000591517 NM_007181.4 714 aCc/aTc 0 -MAP4K4 UCSF GRCh37 2 102460666 102460666 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 45 43 0 ENST00000347699.4:c.1126C>T p.Leu376= p.L376= ENST00000347699 NM_145687.3 376 Cta/Tta 0 -MARCH7 UCSF GRCh37 2 160615737 160615737 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 43 62 0 ENST00000259050.4:c.1784G>A p.Gly595Asp p.G595D ENST00000259050 NM_022826.2 595 gGt/gAt 0 -MARK2 UCSF GRCh37 11 63670230 63670230 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 21 16 0 ENST00000402010.2:c.1392G>A p.Lys464= p.K464= ENST00000402010 NM_001039469.2 464 aaG/aaA 0 -MAST3 UCSF GRCh37 19 18232506 18232506 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 104 83 55 0 ENST00000262811.6:c.83G>A p.Gly28Glu p.G28E ENST00000262811 NM_015016.1 28 gGg/gAg 0 -MAT2A UCSF GRCh37 2 85769819 85769819 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 38 48 0 ENST00000306434.3:c.900G>A p.Trp300Ter p.W300* ENST00000306434 NM_005911.5 300 tgG/tgA 0 -MATN4 UCSF GRCh37 20 43932943 43932943 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 37 9 0 ENST00000537548.1:c.568G>A p.Asp190Asn p.D190N ENST00000537548 NM_003833.4 190 Gac/Aac 0 -MATR3 UCSF GRCh37 5 138643547 138643547 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 47 74 0 ENST00000394805.3:c.443G>A p.Arg148Lys p.R148K ENST00000394805 NM_001194955.1 148 aGg/aAg 0 -MAX UCSF GRCh37 14 65472892 65472898 + intron_variant Intron INS GCCACCA GCCACCA TGCCCCCT NOVEL P05_Rec Untested WXS Illumina HiSeq 6 0 ENST00000246166.2:c.209+1861_209+1867delinsTGCCCCCT *70* ENST00000246166 NM_002028.3 0 -MBD6 UCSF GRCh37 12 57919877 57919877 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 40 55 0 ENST00000355673.3:c.1126C>T p.Leu376= p.L376= ENST00000355673 NM_052897.3 376 Cta/Tta 0 -MBIP UCSF GRCh37 14 36783783 36783783 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 21 11 0 ENST00000416007.4:c.506G>A p.Arg169Lys p.R169K ENST00000416007 NM_016586.2 169 aGa/aAa 0 -MCCC2 UCSF GRCh37 5 70945963 70945963 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 119 68 110 0 ENST00000340941.6:c.1441G>A p.Val481Met p.V481M ENST00000340941 NM_022132.4 481 Gtg/Atg 0 -MCM2 UCSF GRCh37 3 127338011 127338011 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 22 33 0 ENST00000265056.7:c.2155G>A p.Val719Ile p.V719I ENST00000265056 NM_004526.3 719 Gtc/Atc 0 -MCOLN1 UCSF GRCh37 19 7591679 7591679 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 32 31 0 ENST00000264079.6:c.438G>A p.Arg146= p.R146= ENST00000264079 NM_020533.2 146 cgG/cgA 0 -MDC1 UCSF GRCh37 6 30680044 30680044 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 37 62 0 ENST00000376406.3:c.1675C>T p.Pro559Ser p.P559S ENST00000376406 NM_014641.2 559 Cca/Tca 0 -MDFIC UCSF GRCh37 7 114655875 114655875 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 242 63 165 0 ENST00000257724.3:c.954G>A p.Gly318= p.G318= ENST00000257724 318 ggG/ggA 0 -MDGA1 UCSF GRCh37 6 37614108 37614108 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 18 27 0 ENST00000434837.3:c.2090G>A p.Arg697His p.R697H ENST00000434837 NM_153487.3 697 cGt/cAt 0 -MDGA1 UCSF GRCh37 6 37619918 37619918 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 29 40 0 ENST00000434837.3:c.1181C>T p.Pro394Leu p.P394L ENST00000434837 NM_153487.3 394 cCc/cTc 0 -MDM4 UCSF GRCh37 1 204511996 204511996 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 80 47 90 0 ENST00000367182.3:c.596C>T p.Pro199Leu p.P199L ENST00000367182 NM_001278516.1 199 cCt/cTt 0 -MED1 UCSF GRCh37 17 37566483 37566483 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 46 118 0 ENST00000300651.6:c.1991G>A p.Ser664Asn p.S664N ENST00000300651 NM_004774.3 664 aGc/aAc 0 -MED22 UCSF GRCh37 9 136211168 136211168 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 119 62 59 0 ENST00000491289.1:c.225G>A p.Leu75= p.L75= ENST00000491289 75 ctG/ctA 0 -MED23 UCSF GRCh37 6 131917238 131917238 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 117 64 116 0 ENST00000368068.3:c.2844G>A p.Gln948= p.Q948= ENST00000368068 NM_004830.3 948 caG/caA 0 -MED23 UCSF GRCh37 6 131949151 131949151 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 36 50 0 ENST00000368068.3:c.39G>A p.Val13= p.V13= ENST00000368068 NM_004830.3 13 gtG/gtA 0 -MED24 UCSF GRCh37 17 38182450 38182450 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.00098 P05_Rec Untested WXS Illumina HiSeq 119 68 73 0 ENST00000394128.2:c.1944G>A p.Gly648= p.G648= ENST00000394128 NM_014815.3 648 ggG/ggA 0 -MEF2B UCSF GRCh37 19 19257881 19257881 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 16 6 8 0 ENST00000162023.5:c.505C>T p.Pro169Ser p.P169S ENST00000162023 169 Ccc/Tcc 0 -MEIG1 UCSF GRCh37 10 15014527 15014527 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 20 87 0 ENST00000407572.1:c.154G>A p.Glu52Lys p.E52K ENST00000407572 NM_001080836.2 52 Gag/Aag 0 -MEIS2 UCSF GRCh37 15 37184661 37184661 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 71 108 0 ENST00000561208.1:c.1148-1G>A p.X383_splice ENST00000561208 0 -METAP2 UCSF GRCh37 12 95887890 95887890 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 36 59 0 ENST00000323666.5:c.487G>A p.Glu163Lys p.E163K ENST00000323666 NM_006838.3 163 Gaa/Aaa 0 -METTL21D UCSF GRCh37 14 50582895 50582895 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 101 81 99 0 ENST00000395860.2:c.269C>T p.Ala90Val p.A90V ENST00000395860 NM_024558.2 90 gCt/gTt 0 -MFAP4 UCSF GRCh37 17 19287934 19287934 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 20 35 0 ENST00000395592.2:c.681C>T p.Ser227= p.S227= ENST00000395592 NM_001198695.1 227 tcC/tcT 0 -MFSD11 UCSF GRCh37 17 74771103 74771103 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 159 67 133 0 ENST00000588460.1:c.899G>A p.Ser300Asn p.S300N ENST00000588460 NM_001242534.1 300 aGc/aAc 0 -MGAM UCSF GRCh37 7 141738364 141738364 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 9 34 0 ENST00000549489.2:c.2265C>T p.His755= p.H755= ENST00000549489 NM_004668.2 755 caC/caT 0 -MGAT2 UCSF GRCh37 14 50088200 50088200 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 26 32 0 ENST00000305386.2:c.214G>A p.Ala72Thr p.A72T ENST00000305386 NM_002408.3 72 Gcg/Acg 0 -MGAT3 UCSF GRCh37 22 39884476 39884476 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 78 22 0 ENST00000341184.6:c.1124G>A p.Gly375Glu p.G375E ENST00000341184 NM_002409.4 375 gGg/gAg 0 -MGRN1 UCSF GRCh37 16 4731676 4731676 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 99 57 27 0 ENST00000262370.7:c.1257C>T p.Ile419= p.I419= ENST00000262370 NM_015246.3 419 atC/atT 0 -MIA2 4253 UCSF GRCh37 14 39703402 39703402 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 145 53 157 0 ENST00000280082.3:c.84C>T p.Asp28= p.D28= ENST00000280082 NM_054024.3 28 gaC/gaT 0 -MIB1 UCSF GRCh37 18 19378066 19378066 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 44 88 0 ENST00000261537.6:c.1114G>A p.Val372Ile p.V372I ENST00000261537 NM_020774.3 372 Gta/Ata 0 -MILR1 UCSF GRCh37 17 62462747 62462747 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 41 51 0 ENST00000605096.1:c.184C>T p.Pro62Leu p.P62L ENST00000605096 NM_001085423.1 62 cCc/cTc 0 -MIXL1 UCSF GRCh37 1 226413277 226413277 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 53 80 0 ENST00000366810.5:c.463C>T p.Pro155Ser p.P155S ENST00000366810 155 Ccg/Tcg 0 -MKNK1 UCSF GRCh37 1 47048942 47048942 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 39 88 0 ENST00000371946.4:c.94C>T p.Arg32Trp p.R32W ENST00000371946 NM_003684.5 32 Cgg/Tgg 0 -MKS1 UCSF GRCh37 17 56294080 56294080 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 15 42 0 ENST00000393119.2:c.208G>A p.Glu70Lys p.E70K ENST00000393119 NM_017777.3 70 Gaa/Aaa 0 -MLL2 UCSF GRCh37 12 49424208 49424208 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 6 10 12 0 ENST00000301067.7:c.13854C>T p.Asn4618= p.N4618= ENST00000301067 NM_003482.3 4618 aaC/aaT 0 -MLL2 UCSF GRCh37 12 49432034 49432034 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 131 58 72 0 ENST00000301067.7:c.9105C>T p.Asp3035= p.D3035= ENST00000301067 NM_003482.3 3035 gaC/gaT 0 -MLL3 UCSF GRCh37 7 151835881 151835881 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 250 45 132 0 ENST00000262189.6:c.14643G>A p.Glu4881= p.E4881= ENST00000262189 NM_170606.2 4881 gaG/gaA 0 -MLLT4 UCSF GRCh37 6 168319538 168319538 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 21 44 0 ENST00000392108.3:c.2812G>A p.Asp938Asn p.D938N ENST00000392108 NM_001040000.2 938 Gat/Aat 0 -MLLT6 UCSF GRCh37 17 36880878 36880878 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 14 15 0 ENST00000325718.7:c.2889C>T p.His963= p.H963= ENST00000325718 NM_005937.3 963 caC/caT 0 -MLNR UCSF GRCh37 13 49795343 49795343 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 16 10 0 ENST00000218721.1:c.870G>A p.Glu290= p.E290= ENST00000218721 NM_001507.1 290 gaG/gaA 0 -MLYCD UCSF GRCh37 16 83948616 83948616 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 344 144 159 0 ENST00000262430.4:c.1004C>T p.Thr335Ile p.T335I ENST00000262430 NM_012213.2 335 aCc/aTc 0 -MMAA UCSF GRCh37 4 146572288 146572288 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 16 31 44 0 ENST00000281317.5:c.808G>A p.Asp270Asn p.D270N ENST00000281317 NM_172250.2 270 Gat/Aat 0 -MMAA UCSF GRCh37 4 146575229 146575229 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 55 112 0 ENST00000281317.5:c.903G>A p.Arg301= p.R301= ENST00000281317 NM_172250.2 301 agG/agA 0 -MMP14 UCSF GRCh37 14 23311145 23311145 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 52 69 0 ENST00000311852.6:c.281G>A p.Gly94Asp p.G94D ENST00000311852 NM_004995.3 94 gGt/gAt 0 -MMP15 UCSF GRCh37 16 58079067 58079067 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 18 14 0 ENST00000219271.3:c.1727C>T p.Pro576Leu p.P576L ENST00000219271 NM_002428.2 576 cCc/cTc 0 -MMP16 UCSF GRCh37 8 89339416 89339416 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 60 74 0 ENST00000286614.6:c.20G>A p.Ser7Asn p.S7N ENST00000286614 NM_005941.4 7 aGc/aAc 0 -MMP17 UCSF GRCh37 12 132329946 132329946 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 48 18 8 0 ENST00000360564.1:c.1156G>A p.Asp386Asn p.D386N ENST00000360564 NM_016155.4 386 Gac/Aac 0 -MMP24 UCSF GRCh37 20 33839763 33839763 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 184 57 181 0 ENST00000246186.6:c.451C>T p.Arg151Trp p.R151W ENST00000246186 NM_006690.3 151 Cgg/Tgg 0 -MN1 UCSF GRCh37 22 28194159 28194159 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 55 32 16 0 ENST00000302326.4:c.2373C>T p.Phe791= p.F791= ENST00000302326 NM_002430.2 791 ttC/ttT 0 -MOBP UCSF GRCh37 3 39543657 39543657 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 158 73 51 0 ENST00000383754.3:c.97C>T p.Leu33Phe p.L33F ENST00000383754 NM_182935.3 33 Ctc/Ttc 0 -MOV10 UCSF GRCh37 1 113235546 113235546 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 12 7 15 0 ENST00000413052.2:c.1135C>T p.Leu379= p.L379= ENST00000413052 NM_001130079.1 379 Ctg/Ttg 0 -MPDZ UCSF GRCh37 9 13183527 13183527 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 132 76 107 0 ENST00000541718.1:c.2539C>T p.Pro847Ser p.P847S ENST00000541718 NM_001261407.1 847 Cct/Tct 0 -MPP1 UCSF GRCh37 X 154018261 154018261 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 16 20 43 0 ENST00000369534.3:c.448C>T p.Pro150Ser p.P150S ENST00000369534 NM_001166461.1 150 Ccc/Tcc 0 -MPP3 UCSF GRCh37 17 41891415 41891415 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 76 106 0 ENST00000398389.4:c.1219G>A p.Ala407Thr p.A407T ENST00000398389 NM_001932.4 407 Gct/Act 0 -MPP3 UCSF GRCh37 17 41901303 41901303 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 27 43 0 ENST00000398389.4:c.680G>A p.Ser227Asn p.S227N ENST00000398389 NM_001932.4 227 aGc/aAc 0 -MRC2 UCSF GRCh37 17 60741999 60741999 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 47 47 0 ENST00000303375.5:c.209C>T p.Thr70Ile p.T70I ENST00000303375 NM_006039.4 70 aCc/aTc 0 -MRPL24 UCSF GRCh37 1 156708209 156708209 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 125 99 168 0 ENST00000361531.2:c.205G>A p.Asp69Asn p.D69N ENST00000361531 69 Gat/Aat 0 -MRPS17 UCSF GRCh37 7 56022616 56022616 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 278 93 183 0 ENST00000285298.4:c.138G>A p.Arg46= p.R46= ENST00000285298 NM_015969.2 46 cgG/cgA 0 -MRPS21 UCSF GRCh37 1 150266816 150266816 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 21 47 0 ENST00000369084.5:c.30G>A p.Arg10= p.R10= ENST00000369084 NM_018997.3 10 agG/agA 0 -MRPS24 UCSF GRCh37 7 43906315 43906315 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 23 76 0 ENST00000317534.5:c.487G>A p.Val163Met p.V163M ENST00000317534 NM_032014.2 163 Gtg/Atg 0 -MSH6 UCSF GRCh37 2 48030615 48030615 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 20 38 57 0 ENST00000234420.5:c.3229C>T p.Pro1077Ser p.P1077S ENST00000234420 NM_000179.2 1077 Cca/Tca 0 -MSL2 UCSF GRCh37 3 135871035 135871035 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 62 22 42 0 ENST00000309993.2:c.688G>A p.Asp230Asn p.D230N ENST00000309993 NM_018133.3 230 Gat/Aat 0 -MSLNL UCSF GRCh37 16 823159 823159 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 42 28 0 ENST00000293892.3:c.2109C>T p.Cys703= p.C703= ENST00000293892 703 tgC/tgT 0 -MST1R UCSF GRCh37 3 49928724 49928724 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 19 34 0 ENST00000296474.3:c.3550G>A p.Asp1184Asn p.D1184N ENST00000296474 NM_002447.2 1184 Gac/Aac 0 -MT1A UCSF GRCh37 16 56673188 56673188 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 133 23 81 0 ENST00000290705.8:c.41C>T p.Thr14Ile p.T14I ENST00000290705 NM_005946.2 14 aCc/aTc 0 -MTCH1 UCSF GRCh37 6 36940490 36940490 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 3 15 0 ENST00000373616.5:c.844G>A p.Val282Met p.V282M ENST00000373616 NM_014341.2 282 Gtg/Atg 0 -MTERFD2 UCSF GRCh37 2 242038848 242038848 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 40 82 0 ENST00000391980.2:c.483G>A p.Lys161= p.K161= ENST00000391980 NM_182501.3 161 aaG/aaA 0 -MTHFD1 UCSF GRCh37 14 64905841 64905841 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 16 41 0 ENST00000216605.8:c.1625G>A p.Arg542Lys p.R542K ENST00000216605 NM_005956.3 542 aGg/aAg 0 -MTL5 UCSF GRCh37 11 68480777 68480777 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 132 109 0 ENST00000255087.5:c.1119G>A p.Arg373= p.R373= ENST00000255087 NM_004923.3 373 agG/agA 0 -MTMR8 UCSF GRCh37 X 63574685 63574685 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 32 64 0 ENST00000374852.3:c.440C>T p.Thr147Ile p.T147I ENST00000374852 NM_017677.3 147 aCc/aTc 0 -MTMR8 UCSF GRCh37 X 63579408 63579408 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 46 53 0 ENST00000374852.3:c.25-1G>A p.X9_splice ENST00000374852 NM_017677.3 0 -MTNR1A UCSF GRCh37 4 187455161 187455161 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 73 107 0 ENST00000307161.5:c.735C>T p.Val245= p.V245= ENST00000307161 NM_005958.3 245 gtC/gtT 0 -MTPAP UCSF GRCh37 10 30625909 30625909 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 132 61 101 0 ENST00000263063.4:c.603G>A p.Glu201= p.E201= ENST00000263063 NM_018109.3 201 gaG/gaA 0 -MTR UCSF GRCh37 1 236998947 236998947 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 104 62 133 0 ENST00000366577.5:c.1289G>A p.Arg430Lys p.R430K ENST00000366577 NM_000254.2 430 aGa/aAa 0 -MTUS1 UCSF GRCh37 8 17612062 17612062 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 52 73 0 ENST00000262102.6:c.1255G>A p.Val419Ile p.V419I ENST00000262102 NM_001001924.2 419 Gtc/Atc 0 -MUC15 UCSF GRCh37 11 26584798 26584798 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 29 48 76 0 ENST00000436318.2:c.790G>A p.Gly264Arg p.G264R ENST00000436318 264 Gga/Aga 0 -MUC16 UCSF GRCh37 19 9027261 9027261 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 22 29 0 ENST00000397910.4:c.36625G>A p.Asp12209Asn p.D12209N ENST00000397910 NM_024690.2 12209 Gat/Aat 0 -MUC16 UCSF GRCh37 19 9047729 9047729 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 84 58 81 0 ENST00000397910.4:c.33902C>T p.Ala11301Val p.A11301V ENST00000397910 NM_024690.2 11301 gCa/gTa 0 -MUC16 UCSF GRCh37 19 9067981 9067981 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 108 51 127 0 ENST00000397910.4:c.19465C>T p.Leu6489Phe p.L6489F ENST00000397910 NM_024690.2 6489 Ctt/Ttt 0 -MUC16 UCSF GRCh37 19 9073785 9073785 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 131 90 123 0 ENST00000397910.4:c.13661C>T p.Thr4554Ile p.T4554I ENST00000397910 NM_024690.2 4554 aCt/aTt 0 -MUC16 UCSF GRCh37 19 9084076 9084076 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 135 78 136 0 ENST00000397910.4:c.7739C>T p.Thr2580Ile p.T2580I ENST00000397910 NM_024690.2 2580 aCa/aTa 0 -MUC16 UCSF GRCh37 19 9084824 9084824 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 115 65 140 0 ENST00000397910.4:c.6991C>T p.Leu2331Phe p.L2331F ENST00000397910 NM_024690.2 2331 Ctc/Ttc 0 -MUC17 UCSF GRCh37 7 100677195 100677195 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 357 101 228 0 ENST00000306151.4:c.2498C>T p.Ser833Phe p.S833F ENST00000306151 NM_001040105.1 833 tCc/tTc 0 -MUC21 UCSF GRCh37 6 30955956 30955956 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 13 35 0 ENST00000376296.3:c.1686G>A p.Arg562= p.R562= ENST00000376296 NM_001010909.2 562 agG/agA 0 -MUC4 UCSF GRCh37 3 195507907 195507907 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 677 83 477 0 ENST00000463781.3:c.10544C>T p.Thr3515Ile p.T3515I ENST00000463781 NM_018406.6 3515 aCc/aTc 0 -MUC4 UCSF GRCh37 3 195518202 195518202 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 132 111 239 0 ENST00000463781.3:c.249G>A p.Glu83= p.E83= ENST00000463781 NM_018406.6 83 gaG/gaA 0 -MUC4 UCSF GRCh37 3 195510396 195510396 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 60 10 97 1 ENST00000463781.3:c.8055T>G p.His2685Gln p.H2685Q ENST00000463781 NM_018406.6 2685 caT/caG 0 -MUC4 UCSF GRCh37 3 195508523 195508523 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 9 35 1 ENST00000463781.3:c.9928G>A p.Ala3310Thr p.A3310T ENST00000463781 NM_018406.6 3310 Gcc/Acc 0 -MUC5B UCSF GRCh37 11 1250478 1250478 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 10 10 8 0 ENST00000529681.1:c.1055C>T p.Ala352Val p.A352V ENST00000529681 NM_002458.2 352 gCg/gTg 0 -MUC5B UCSF GRCh37 11 1266696 1266696 + synonymous_variant Silent SNP A A C 1000g2011may_all_0.1446,snp132_rs4046509 P05_Rec Untested WXS Illumina HiSeq 22 3 37 0 ENST00000529681.1:c.8586A>C p.Pro2862= p.P2862= ENST00000529681 NM_002458.2 2862 ccA/ccC 0 -MUC6 UCSF GRCh37 11 1017480 1017480 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 530 121 459 0 ENST00000421673.2:c.5321C>T p.Thr1774Ile p.T1774I ENST00000421673 NM_005961.2 1774 aCc/aTc 0 -MUC6 UCSF GRCh37 11 1027375 1027375 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 71 69 0 ENST00000421673.2:c.2124C>T p.Tyr708= p.Y708= ENST00000421673 NM_005961.2 708 taC/taT 0 -MYC UCSF GRCh37 8 128750682 128750682 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 68 50 17 0 ENST00000377970.2:c.219C>T p.Thr73= p.T73= ENST00000377970 NM_002467.4 73 acC/acT 0 -MYH10 UCSF GRCh37 17 8379127 8379127 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 61 95 0 ENST00000360416.3:c.6019G>A p.Glu2007Lys p.E2007K ENST00000360416 NM_001256012.1 2007 Gag/Aag 0 -MYH10 UCSF GRCh37 17 8416891 8416891 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 52 37 66 0 ENST00000360416.3:c.2710G>A p.Gly904Arg p.G904R ENST00000360416 NM_001256012.1 904 Gga/Aga 0 -MYH11 UCSF GRCh37 16 15826454 15826454 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 56 91 0 ENST00000396324.3:c.3639G>A p.Glu1213= p.E1213= ENST00000396324 NM_001040114.1 1213 gaG/gaA 0 -MYH14 UCSF GRCh37 19 50764856 50764856 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 17 14 0 ENST00000601313.1:c.2549C>T p.Ser850Phe p.S850F ENST00000601313 NM_001145809.1 850 tCc/tTc 0 -MYH14 UCSF GRCh37 19 50783378 50783378 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 26 24 0 ENST00000601313.1:c.4117G>A p.Ala1373Thr p.A1373T ENST00000601313 NM_001145809.1 1373 Gcc/Acc 0 -MYH2 UCSF GRCh37 17 10436690 10436690 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 68 36 98 0 ENST00000245503.5:c.2353G>A p.Asp785Asn p.D785N ENST00000245503 NM_017534.5 785 Gac/Aac 0 -MYO18A UCSF GRCh37 17 27434097 27434097 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 40 43 0 ENST00000527372.1:c.3441+1G>A p.X1147_splice ENST00000527372 NM_078471.3 0 -MYO18B UCSF GRCh37 22 26239836 26239836 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 43 57 0 ENST00000335473.7:c.3343C>T p.Pro1115Ser p.P1115S ENST00000335473 NM_032608.5 1115 Ccc/Tcc 0 -MYO18B UCSF GRCh37 22 26422815 26422815 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 36 25 0 ENST00000335473.7:c.6875G>A p.Gly2292Asp p.G2292D ENST00000335473 NM_032608.5 2292 gGc/gAc 0 -MYO1D UCSF GRCh37 17 31039119 31039119 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 114 77 109 0 ENST00000318217.5:c.2008G>A p.Asp670Asn p.D670N ENST00000318217 NM_015194.1 670 Gat/Aat 0 -MYO1E UCSF GRCh37 15 59548493 59548493 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 21 11 45 0 ENST00000288235.4:c.322G>A p.Val108Ile p.V108I ENST00000288235 NM_004998.3 108 Gtc/Atc 0 -MYO1E UCSF GRCh37 15 59515337 59515337 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 37 79 0 ENST00000288235.4:c.831G>A p.Gln277= p.Q277= ENST00000288235 NM_004998.3 277 caG/caA 0 -MYO1H UCSF GRCh37 12 109874303 109874303 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 18 58 0 ENST00000310903.5:c.2103C>T p.Ile701= p.I701= ENST00000310903 701 atC/atT 0 -MYO5A UCSF GRCh37 15 52720755 52720755 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 47 104 0 ENST00000399231.3:c.150C>T p.Tyr50= p.Y50= ENST00000399231 NM_000259.3 50 taC/taT 0 -MYO5B UCSF GRCh37 18 47363930 47363930 + synonymous_variant Silent SNP A A G snp132_rs79271359 P05_Rec Untested WXS Illumina HiSeq 82 10 54 1 ENST00000285039.7:c.5095T>C p.Leu1699= p.L1699= ENST00000285039 NM_001080467.2 1699 Ttg/Ctg 0 -MYO5B UCSF GRCh37 18 47363931 47363931 + synonymous_variant Silent SNP G G C snp132_rs77840018 P05_Rec Untested WXS Illumina HiSeq 83 10 54 1 ENST00000285039.7:c.5094C>G p.Leu1698= p.L1698= ENST00000285039 NM_001080467.2 1698 ctC/ctG 0 -MYO7A UCSF GRCh37 11 76867778 76867778 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 165 28 105 0 ENST00000409709.3:c.543G>T p.Gln181His p.Q181H ENST00000409709 NM_000260.3 181 caG/caT 0 -MYO9B UCSF GRCh37 19 17305959 17305959 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 43 20 0 ENST00000595618.1:c.3723G>A p.Gly1241= p.G1241= ENST00000595618 NM_001130065.1 1241 ggG/ggA 0 -MYOC UCSF GRCh37 1 171621570 171621570 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 34 42 0 ENST00000037502.6:c.182G>A p.Cys61Tyr p.C61Y ENST00000037502 NM_000261.1 61 tGc/tAc 0 -MYOG UCSF GRCh37 1 203054970 203054970 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 58 38 0 ENST00000241651.4:c.120C>T p.Leu40= p.L40= ENST00000241651 NM_002479.5 40 ctC/ctT 0 -MYOM1 UCSF GRCh37 18 3071858 3071858 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 12 24 0 ENST00000356443.4:c.4738G>A p.Asp1580Asn p.D1580N ENST00000356443 NM_019856.1 1580 Gac/Aac 0 -MYOM1 UCSF GRCh37 18 3188757 3188757 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 31 68 0 ENST00000356443.4:c.760C>T p.Leu254= p.L254= ENST00000356443 NM_019856.1 254 Ctg/Ttg 0 -MYOM3 UCSF GRCh37 1 24398469 24398469 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 14 43 0 ENST00000374434.3:c.3003C>T p.Ile1001= p.I1001= ENST00000374434 NM_152372.3 1001 atC/atT 0 -NAA15 UCSF GRCh37 4 140262178 140262178 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 27 59 0 ENST00000296543.5:c.357C>T p.Asp119= p.D119= ENST00000296543 NM_057175.3 119 gaC/gaT 0 -NAA25 UCSF GRCh37 12 112528571 112528571 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 52 78 0 ENST00000261745.4:c.242C>T p.Ser81Leu p.S81L ENST00000261745 NM_024953.3 81 tCa/tTa 0 -NAA30 UCSF GRCh37 14 57858361 57858361 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 200 157 117 1 ENST00000556492.1:c.686G>A p.Arg229Lys p.R229K ENST00000556492 NM_001011713.2 229 aGa/aAa 0 -NAALADL1 UCSF GRCh37 11 64822020 64822020 + missense_variant Missense_Mutation SNP G G A snp132_rs35867135 P05_Rec Untested WXS Illumina HiSeq 25 19 17 0 ENST00000358658.3:c.794C>T p.Pro265Leu p.P265L ENST00000358658 NM_005468.2 265 cCc/cTc 0 -NAALADL1 UCSF GRCh37 11 64815162 64815162 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 8 8 0 ENST00000358658.3:c.1465C>T p.Arg489Trp p.R489W ENST00000358658 NM_005468.2 489 Cgg/Tgg 0 -NACC1 UCSF GRCh37 19 13246770 13246770 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 17 8 0 ENST00000292431.4:c.749G>A p.Gly250Glu p.G250E ENST00000292431 NM_052876.3 250 gGg/gAg 0 -NAGS UCSF GRCh37 17 42085896 42085896 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 154 100 130 0 ENST00000293404.3:c.1532C>T p.Ser511Phe p.S511F ENST00000293404 NM_153006.2 511 tCc/tTc 0 -NARF UCSF GRCh37 17 80422223 80422223 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 44 65 0 ENST00000309794.11:c.169G>A p.Asp57Asn p.D57N ENST00000309794 NM_031968.2 57 Gac/Aac 0 -NARFL UCSF GRCh37 16 784752 784752 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 54 45 0 ENST00000251588.2:c.559G>A p.Ala187Thr p.A187T ENST00000251588 NM_022493.1 187 Gcc/Acc 0 -NBPF3 UCSF GRCh37 1 21804669 21804669 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 201 128 274 0 ENST00000318249.5:c.1025C>T p.Pro342Leu p.P342L ENST00000318249 NM_032264.4 342 cCc/cTc 0 -NCAM1 UCSF GRCh37 11 113085228 113085228 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 95 40 97 0 ENST00000524665.1:c.1231G>A p.Glu411Lys p.E411K ENST00000524665 NM_000615.6 411 Gaa/Aaa 0 -NCAN UCSF GRCh37 19 19327790 19327790 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 52 78 0 ENST00000252575.6:c.28G>A p.Gly10Ser p.G10S ENST00000252575 NM_004386.2 10 Ggc/Agc 0 -NCAPH UCSF GRCh37 2 97026441 97026441 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 84 66 77 0 ENST00000240423.4:c.1580G>A p.Gly527Asp p.G527D ENST00000240423 NM_001281711.1 527 gGc/gAc 0 -NCOA1 UCSF GRCh37 2 24930252 24930252 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 45 73 0 ENST00000406961.1:c.1913C>T p.Thr638Ile p.T638I ENST00000406961 638 aCa/aTa 0 -NCOA5 UCSF GRCh37 20 44691394 44691394 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 100 43 73 0 ENST00000290231.6:c.1285C>T p.Gln429Ter p.Q429* ENST00000290231 NM_020967.2 429 Caa/Taa 0 -NCOR2 UCSF GRCh37 12 124848269 124848269 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 18 27 0 ENST00000405201.1:c.2884G>A p.Asp962Asn p.D962N ENST00000405201 962 Gac/Aac 0 -NCOR2 UCSF GRCh37 12 124819735 124819735 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 14 10 0 ENST00000405201.1:c.6357C>T p.Thr2119= p.T2119= ENST00000405201 2119 acC/acT 0 -NDNF UCSF GRCh37 4 121957629 121957629 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 95 73 83 0 ENST00000379692.4:c.1497C>T p.Asn499= p.N499= ENST00000379692 NM_024574.3 499 aaC/aaT 0 -NDUFB10 UCSF GRCh37 16 2011557 2011557 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 44 37 0 ENST00000268668.6:c.329G>A p.Arg110Lys p.R110K ENST00000268668 NM_004548.2 110 aGg/aAg 0 -NDUFS2 UCSF GRCh37 1 161173255 161173255 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 14 15 0 ENST00000367993.3:c.124G>A p.Glu42Lys p.E42K ENST00000367993 NM_004550.4 42 Gaa/Aaa 0 -NDUFV1 UCSF GRCh37 11 67378012 67378012 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 13 31 0 ENST00000322776.6:c.671G>T p.Arg224Leu p.R224L ENST00000322776 NM_001166102.1 224 cGc/cTc 0 -NEB UCSF GRCh37 2 152580850 152580850 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 45 77 0 ENST00000397345.3:c.536C>T p.Thr179Ile p.T179I ENST00000397345 NM_001164508.1 179 aCc/aTc 0 -NEFH UCSF GRCh37 22 29881757 29881757 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 40 18 32 0 ENST00000310624.6:c.1129G>A p.Glu377Lys p.E377K ENST00000310624 NM_021076.3 377 Gag/Aag 0 -NET1 UCSF GRCh37 10 5498729 5498729 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 86 45 84 0 ENST00000355029.4:c.1563G>A p.Glu521= p.E521= ENST00000355029 NM_001047160.2 521 gaG/gaA 0 -NFATC4 UCSF GRCh37 14 24843593 24843593 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 10 34 0 ENST00000413692.2:c.1983G>A p.Val661= p.V661= ENST00000413692 NM_001198967.1 661 gtG/gtA 0 -NFE2L1 UCSF GRCh37 17 46128766 46128766 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 61 49 0 ENST00000362042.3:c.286C>T p.Pro96Ser p.P96S ENST00000362042 NM_003204.2 96 Cca/Tca 0 -NFE2L1 UCSF GRCh37 17 46128657 46128657 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 107 74 99 0 ENST00000362042.3:c.177G>A p.Arg59= p.R59= ENST00000362042 NM_003204.2 59 agG/agA 0 -NFE2L2 UCSF GRCh37 2 178095714 178095714 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 141 84 116 0 ENST00000397062.3:c.1617G>A p.Leu539= p.L539= ENST00000397062 NM_006164.4 539 ttG/ttA 0 -NFRKB UCSF GRCh37 11 129755423 129755423 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 13 18 37 0 ENST00000524794.1:c.586G>A p.Glu196Lys p.E196K ENST00000524794 196 Gag/Aag 0 -NID1 UCSF GRCh37 1 236154275 236154275 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 19 35 0 ENST00000264187.6:c.2839C>T p.Leu947Phe p.L947F ENST00000264187 NM_002508.2 947 Ctc/Ttc 0 -NID2 UCSF GRCh37 14 52508869 52508869 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 35 72 0 ENST00000216286.5:c.1779C>T p.Leu593= p.L593= ENST00000216286 NM_007361.3 593 ctC/ctT 0 -NINL UCSF GRCh37 20 25456771 25456771 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 163 75 59 0 ENST00000278886.6:c.3156G>A p.Glu1052= p.E1052= ENST00000278886 NM_025176.4 1052 gaG/gaA 0 -NIPAL3 UCSF GRCh37 1 24776049 24776049 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 30 42 0 ENST00000374399.4:c.473G>A p.Ser158Asn p.S158N ENST00000374399 NM_020448.4 158 aGt/aAt 0 -NLRP1 UCSF GRCh37 17 5425059 5425059 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 23 33 0 ENST00000572272.1:c.3568G>A p.Glu1190Lys p.E1190K ENST00000572272 1190 Gag/Aag 0 -NLRP5 UCSF GRCh37 19 56530765 56530765 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 81 154 0 ENST00000390649.3:c.622+1G>A p.X208_splice ENST00000390649 NM_153447.4 0 -NMT2 UCSF GRCh37 10 15151773 15151773 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 111 53 95 0 ENST00000378165.4:c.1404G>A p.Lys468= p.K468= ENST00000378165 NM_004808.2 468 aaG/aaA 0 -NOB1 UCSF GRCh37 16 69782883 69782883 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 23 30 0 ENST00000268802.5:c.664G>A p.Glu222Lys p.E222K ENST00000268802 NM_014062.2 222 Gag/Aag 0 -NOD1 UCSF GRCh37 7 30475661 30475661 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 98 27 16 0 ENST00000222823.4:c.2574G>A p.Lys858= p.K858= ENST00000222823 NM_006092.2 858 aaG/aaA 0 -NOL9 UCSF GRCh37 1 6585951 6585951 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 140 73 158 0 ENST00000377705.5:c.2072C>T p.Pro691Leu p.P691L ENST00000377705 NM_024654.4 691 cCa/cTa 0 -NOMO2 UCSF GRCh37 16 18544496 18544496 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 228 46 234 0 ENST00000381474.3:c.1226G>A p.Ser409Asn p.S409N ENST00000381474 NM_001004060.1 409 aGt/aAt 0 -NOS1 UCSF GRCh37 12 117693804 117693804 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 25 57 0 ENST00000338101.4:c.2570C>T p.Pro857Leu p.P857L ENST00000338101 857 cCt/cTt 0 -NOS2 UCSF GRCh37 17 26093596 26093596 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 106 73 124 0 ENST00000313735.6:c.2186C>T p.Ala729Val p.A729V ENST00000313735 NM_000625.4 729 gCc/gTc 0 -NOTCH2 UCSF GRCh37 1 120612013 120612013 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.013 P05_Rec Untested WXS Illumina HiSeq 45 9 9 0 ENST00000256646.2:c.8C>T p.Ala3Val p.A3V ENST00000256646 NM_024408.3 3 gCc/gTc 0 -NOTCH2 UCSF GRCh37 1 120612014 120612014 + missense_variant Missense_Mutation SNP C C A 1000g2010nov_all_0.013 P05_Rec Untested WXS Illumina HiSeq 45 9 10 0 ENST00000256646.2:c.7G>T p.Ala3Ser p.A3S ENST00000256646 NM_024408.3 3 Gcc/Tcc 0 -NOTCH2 UCSF GRCh37 1 120512351 120512351 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 51 28 47 0 ENST00000256646.2:c.891G>A p.Glu297= p.E297= ENST00000256646 NM_024408.3 297 gaG/gaA 0 -NOTCH4 UCSF GRCh37 6 32168963 32168963 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 39 39 0 ENST00000375023.3:c.4070C>T p.Pro1357Leu p.P1357L ENST00000375023 NM_004557.3 1357 cCc/cTc 0 -NOXA1 UCSF GRCh37 9 140328695 140328695 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 189 60 31 0 ENST00000341349.2:c.1335G>A p.Glu445= p.E445= ENST00000341349 NM_001256067.1 445 gaG/gaA 0 -NPAT UCSF GRCh37 11 108040739 108040739 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 66 111 0 ENST00000278612.8:c.2817G>A p.Gln939= p.Q939= ENST00000278612 NM_002519.2 939 caG/caA 0 -NPHP3 UCSF GRCh37 3 132418210 132418210 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 28 7 21 0 ENST00000337331.5:c.1972C>T p.Pro658Ser p.P658S ENST00000337331 NM_153240.4 658 Cct/Tct 0 -NPHP4 UCSF GRCh37 1 5940222 5940222 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 54 81 0 ENST00000378156.4:c.2563G>A p.Ala855Thr p.A855T ENST00000378156 NM_015102.3 855 Gcc/Acc 0 -NPHS1 UCSF GRCh37 19 36333406 36333406 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 45 37 0 ENST00000378910.5:c.2381C>T p.Ser794Phe p.S794F ENST00000378910 NM_004646.3 794 tCc/tTc 0 -NQO2 UCSF GRCh37 6 3015855 3015855 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 29 14 32 0 ENST00000338130.2:c.395T>C p.Phe132Ser p.F132S ENST00000338130 132 tTc/tCc 0 -NR1H2 UCSF GRCh37 19 50882000 50882000 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 60 38 0 ENST00000253727.5:c.694G>A p.Ala232Thr p.A232T ENST00000253727 NM_007121.5 232 Gcg/Acg 0 -NR1H4 UCSF GRCh37 12 100957206 100957206 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 81 45 87 0 ENST00000551379.1:c.1400C>T p.Ser467Leu p.S467L ENST00000551379 467 tCa/tTa 0 -NR2C1 UCSF GRCh37 12 95456424 95456424 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 38 20 38 0 ENST00000333003.5:c.145C>G p.His49Asp p.H49D ENST00000333003 NM_003297.3 49 Cac/Gac 0 -NR2C1 UCSF GRCh37 12 95456371 95456371 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0014 P05_Rec Untested WXS Illumina HiSeq 28 17 30 0 ENST00000333003.5:c.198G>A p.Pro66= p.P66= ENST00000333003 NM_003297.3 66 ccG/ccA 0 -NRG1 UCSF GRCh37 8 32453351 32453351 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 44 81 0 ENST00000356819.4:c.106C>T p.Pro36Ser p.P36S ENST00000356819 NM_013956.3 36 Cct/Tct 0 -NRL UCSF GRCh37 14 24551985 24551985 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 21 23 0 ENST00000561028.1:c.73C>T p.Arg25Trp p.R25W ENST00000561028 25 Cgg/Tgg 0 -NRSN1 UCSF GRCh37 6 24145818 24145818 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 82 54 95 0 ENST00000378491.4:c.232A>C p.Thr78Pro p.T78P ENST00000378491 NM_080723.4 78 Act/Cct 0 -NRXN3 UCSF GRCh37 14 79117661 79117661 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 101 77 145 0 ENST00000554719.1:c.94C>T p.Leu32Phe p.L32F ENST00000554719 NM_004796.5 32 Ctt/Ttt 0 -NSMAF UCSF GRCh37 8 59496711 59496711 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 37 97 0 ENST00000427130.2:c.2801C>T p.Thr934Ile p.T934I ENST00000427130 NM_001144772.1 934 aCa/aTa 0 -NTRK3 UCSF GRCh37 15 88679226 88679226 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 41 73 0 ENST00000360948.2:c.811G>A p.Val271Met p.V271M ENST00000360948 NM_001012338.2 271 Gtg/Atg 0 -NUDC UCSF GRCh37 1 27272131 27272131 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 85 36 110 0 ENST00000321265.5:c.898G>A p.Gly300Arg p.G300R ENST00000321265 NM_006600.3 300 Ggg/Agg 0 -NUDCD2 UCSF GRCh37 5 162886898 162886898 + synonymous_variant Silent SNP C C A NOVEL P05_Rec Untested WXS Illumina HiSeq 95 15 29 1 ENST00000302764.4:c.159G>T p.Ala53= p.A53= ENST00000302764 NM_145266.4 53 gcG/gcT 0 -NUDCD3 UCSF GRCh37 7 44467172 44467172 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 19 51 0 ENST00000355451.7:c.640C>T p.Gln214Ter p.Q214* ENST00000355451 NM_015332.3 214 Cag/Tag 0 -NUMB UCSF GRCh37 14 73750891 73750891 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 59 92 0 ENST00000355058.3:c.847C>T p.Leu283Phe p.L283F ENST00000355058 283 Ctt/Ttt 0 -NUP188 UCSF GRCh37 9 131735512 131735512 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 17 29 0 ENST00000372577.2:c.1187C>T p.Thr396Ile p.T396I ENST00000372577 NM_015354.2 396 aCc/aTc 0 -NUP210 UCSF GRCh37 3 13393458 13393458 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 72 19 56 0 ENST00000254508.5:c.2756G>A p.Gly919Asp p.G919D ENST00000254508 NM_024923.3 919 gGc/gAc 0 -NUP210 UCSF GRCh37 3 13401975 13401975 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 12 22 0 ENST00000254508.5:c.1949C>T p.Ser650Phe p.S650F ENST00000254508 NM_024923.3 650 tCt/tTt 0 -NUP93 UCSF GRCh37 16 56878490 56878490 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 18 40 0 ENST00000308159.5:c.2429G>A p.Arg810Lys p.R810K ENST00000308159 NM_014669.4 810 aGg/aAg 0 -NUPL1 UCSF GRCh37 13 25905498 25905498 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 41 58 0 ENST00000381736.3:c.1237C>T p.Leu413= p.L413= ENST00000381736 NM_014089.3 413 Ctg/Ttg 0 -NXF3 UCSF GRCh37 X 102337686 102337686 + splice_donor_variant Splice_Site SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 58 34 112 0 ENST00000395065.3:c.780+2T>G p.X260_splice ENST00000395065 NM_022052.1 0 -OAS1 UCSF GRCh37 12 113349034 113349034 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0015 P05_Rec Untested WXS Illumina HiSeq 70 29 75 0 ENST00000445409.2:c.648C>T p.Tyr216= p.Y216= ENST00000445409 NM_001032409.1 216 taC/taT 0 -OAS2 UCSF GRCh37 12 113436196 113436196 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 149 43 109 0 ENST00000342315.4:c.989C>T p.Ala330Val p.A330V ENST00000342315 NM_016817.2 330 gCa/gTa 0 -OASL UCSF GRCh37 12 121458523 121458523 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 38 68 0 ENST00000257570.5:c.1386G>A p.Gln462= p.Q462= ENST00000257570 NM_003733.3 462 caG/caA 0 -OBSCN UCSF GRCh37 1 228476566 228476566 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 57 67 0 ENST00000570156.2:c.11603C>T p.Thr3868Ile p.T3868I ENST00000570156 NM_001271223.2 3868 aCc/aTc 0 -OBSCN UCSF GRCh37 1 228403510 228403510 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 24 23 0 ENST00000570156.2:c.2075G>A p.Ser692Asn p.S692N ENST00000570156 NM_001271223.2 692 aGc/aAc 0 -OBSCN UCSF GRCh37 1 228497197 228497197 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 44 75 0 ENST00000570156.2:c.15820G>A p.Asp5274Asn p.D5274N ENST00000570156 NM_001271223.2 5274 Gat/Aat 0 -OBSCN UCSF GRCh37 1 228481893 228481893 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 155 102 130 0 ENST00000570156.2:c.12459G>A p.Glu4153= p.E4153= ENST00000570156 NM_001271223.2 4153 gaG/gaA 0 -ODF2 UCSF GRCh37 9 131262353 131262353 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 101 40 58 0 ENST00000434106.3:c.2309G>A p.Arg770His p.R770H ENST00000434106 NM_153433.1 770 cGc/cAc 0 -ODZ2 UCSF GRCh37 5 167420045 167420045 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0034 P05_Rec Untested WXS Illumina HiSeq 37 60 98 0 ENST00000518659.1:c.1044G>A p.Pro348= p.P348= ENST00000518659 NM_001122679.1 348 ccG/ccA 0 -ODZ4 UCSF GRCh37 11 78413374 78413374 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 131 117 150 0 ENST00000278550.7:c.4284G>A p.Val1428= p.V1428= ENST00000278550 NM_001098816.2 1428 gtG/gtA 0 -OGFR UCSF GRCh37 20 61444600 61444600 + missense_variant Missense_Mutation SNP C C A 1000g2010nov_all_0.039,1000g2011may_all_0.0976,snp132_rs6122313 P05_Rec Untested WXS Illumina HiSeq 25 7 10 0 ENST00000290291.6:c.1633C>A p.Arg545Ser p.R545S ENST00000290291 NM_007346.2 545 Cgc/Agc 0 -OLFM1 UCSF GRCh37 9 137987827 137987827 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 106 35 44 0 ENST00000252854.4:c.364G>A p.Glu122Lys p.E122K ENST00000252854 NM_014279.4 122 Gag/Aag 0 -OLFM4 UCSF GRCh37 13 53624333 53624333 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 66 115 0 ENST00000219022.2:c.960G>A p.Glu320= p.E320= ENST00000219022 NM_006418.4 320 gaG/gaA 0 -OPRM1 UCSF GRCh37 6 154360645 154360645 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 13 14 0 ENST00000434900.2:c.245C>T p.Thr82Ile p.T82I ENST00000434900 NM_001145279.2 82 aCc/aTc 0 -OPTN UCSF GRCh37 10 13169851 13169851 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 45 92 0 ENST00000378748.3:c.1349C>T p.Thr450Ile p.T450I ENST00000378748 NM_001008211.1 450 aCc/aTc 0 -OR10AG1 UCSF GRCh37 11 55735468 55735468 + missense_variant Missense_Mutation SNP G G A snp132_rs77704611 P05_Rec Untested WXS Illumina HiSeq 40 35 61 0 ENST00000312345.2:c.472C>T p.Pro158Ser p.P158S ENST00000312345 NM_001005491.1 158 Ccc/Tcc 0 -OR10G9 UCSF GRCh37 11 123894533 123894533 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 60 114 0 ENST00000375024.1:c.814G>A p.Ala272Thr p.A272T ENST00000375024 NM_001001953.1 272 Gcc/Acc 0 -OR10J3 UCSF GRCh37 1 159283715 159283715 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 63 105 0 ENST00000332217.5:c.735C>T p.His245= p.H245= ENST00000332217 NM_001004467.1 245 caC/caT 0 -OR10T2 UCSF GRCh37 1 158368825 158368825 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 36 114 0 ENST00000334438.1:c.432G>A p.Glu144= p.E144= ENST00000334438 NM_001004475.1 144 gaG/gaA 0 -OR1E2 UCSF GRCh37 17 3336691 3336691 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 43 30 55 0 ENST00000248384.1:c.445C>G p.Leu149Val p.L149V ENST00000248384 NM_003554.1 149 Ctc/Gtc 0 -OR1L8 UCSF GRCh37 9 125329947 125329947 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 25 80 0 ENST00000304865.2:c.810G>A p.Lys270= p.K270= ENST00000304865 NM_001004454.1 270 aaG/aaA 0 -OR2A25 UCSF GRCh37 7 143771842 143771842 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 223 80 170 0 ENST00000408898.2:c.530T>G p.Phe177Cys p.F177C ENST00000408898 NM_001004488.1 177 tTc/tGc 0 -OR2C1 UCSF GRCh37 16 3406567 3406567 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 46 74 0 ENST00000304936.2:c.627C>T p.Val209= p.V209= ENST00000304936 NM_012368.2 209 gtC/gtT 0 -OR56A5 UCSF GRCh37 11 5989353 5989353 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 66 179 0 ENST00000532411.1:n.372C>T *124* ENST00000532411 0 -OR5V1 UCSF GRCh37 6 29323969 29323969 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 69 29 42 0 ENST00000377154.1:c.4G>A p.Glu2Lys p.E2K ENST00000377154 2 Gaa/Aaa 0 -OR6V1 UCSF GRCh37 7 142749760 142749760 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 156 55 107 0 ENST00000418316.1:c.323C>T p.Thr108Ile p.T108I ENST00000418316 NM_001001667.1 108 aCc/aTc 0 -OR7A5 UCSF GRCh37 19 14938928 14938928 + synonymous_variant Silent SNP G G A snp132_rs76014757 P05_Rec Untested WXS Illumina HiSeq 133 83 141 0 ENST00000322301.3:c.126C>T p.Asn42= p.N42= ENST00000322301 42 aaC/aaT 0 -OR7G1 UCSF GRCh37 19 9226037 9226037 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 97 64 171 0 ENST00000541538.1:c.403C>T p.Leu135Phe p.L135F ENST00000541538 NM_001005192.2 135 Ctc/Ttc 0 -OR8H1 UCSF GRCh37 11 56057643 56057643 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 137 77 133 0 ENST00000313022.2:c.896C>T p.Ala299Val p.A299V ENST00000313022 NM_001005199.1 299 gCt/gTt 0 -OSBPL10 UCSF GRCh37 3 31725542 31725542 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 31 37 0 ENST00000396556.2:c.1310C>T p.Ala437Val p.A437V ENST00000396556 NM_017784.4 437 gCg/gTg 0 -OSBPL11 UCSF GRCh37 3 125271277 125271277 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 45 68 0 ENST00000296220.5:c.1402G>A p.Val468Ile p.V468I ENST00000296220 NM_022776.4 468 Gta/Ata 0 -OSBPL5 UCSF GRCh37 11 3111847 3111847 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 17 27 16 0 ENST00000263650.7:c.2339C>T p.Ser780Phe p.S780F ENST00000263650 NM_020896.3 780 tCc/tTc 0 -OTUD4 UCSF GRCh37 4 146077122 146077122 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 19 28 38 0 ENST00000454497.2:c.461A>C p.Asp154Ala p.D154A ENST00000454497 NM_001102653.1 154 gAt/gCt 0 -OTUD7A UCSF GRCh37 15 31862393 31862393 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 36 36 0 ENST00000307050.4:c.159C>T p.Asn53= p.N53= ENST00000307050 NM_130901.1 53 aaC/aaT 0 -OXA1L UCSF GRCh37 14 23235862 23235862 + synonymous_variant Silent SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 128 82 93 0 ENST00000285848.5:c.132T>C p.Gly44= p.G44= ENST00000285848 NM_005015.3 44 ggT/ggC 0 -PADI2 UCSF GRCh37 1 17413169 17413169 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 61 35 45 0 ENST00000375486.4:c.681C>T p.Ile227= p.I227= ENST00000375486 NM_007365.2 227 atC/atT 0 -PADI6 UCSF GRCh37 1 17727751 17727751 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 34 62 0 ENST00000434762.2:n.1953G>A *651* ENST00000434762 0 -PALMD UCSF GRCh37 1 100155175 100155175 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 23 61 0 ENST00000263174.4:c.1359G>A p.Glu453= p.E453= ENST00000263174 NM_017734.4 453 gaG/gaA 0 -PANK1 UCSF GRCh37 10 91348448 91348448 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 24 37 56 0 ENST00000307534.4:c.1698G>A p.Trp566Ter p.W566* ENST00000307534 NM_148977.2 566 tgG/tgA 0 -PANK4 UCSF GRCh37 1 2452632 2452632 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 156 75 73 0 ENST00000378466.3:c.330C>T p.Asp110= p.D110= ENST00000378466 NM_018216.1 110 gaC/gaT 0 -PAPLN UCSF GRCh37 14 73733540 73733540 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 9 9 0 ENST00000340738.5:c.3419+1G>A p.X1140_splice ENST00000340738 NM_173462.3 0 -PAPPA2 UCSF GRCh37 1 176661375 176661375 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 122 76 121 0 ENST00000367662.3:c.2545C>T p.Pro849Ser p.P849S ENST00000367662 NM_020318.2 849 Cca/Tca 0 -PAPPA2 UCSF GRCh37 1 176708825 176708825 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 43 26 42 0 ENST00000367662.3:c.3862G>C p.Val1288Leu p.V1288L ENST00000367662 NM_020318.2 1288 Gtt/Ctt 0 -PARP1 UCSF GRCh37 1 226579986 226579986 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 154 92 143 0 ENST00000366794.5:c.316G>A p.Ala106Thr p.A106T ENST00000366794 NM_001618.3 106 Gca/Aca 0 -PARVG UCSF GRCh37 22 44585128 44585128 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 33 12 0 ENST00000444313.3:c.382G>A p.Val128Met p.V128M ENST00000444313 NM_022141.6 128 Gtg/Atg 0 -PAXIP1 UCSF GRCh37 7 154755379 154755379 + splice_donor_variant Splice_Site SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 48 15 39 0 ENST00000404141.1:c.1989+2T>C p.X663_splice ENST00000404141 0 -PCDH15 UCSF GRCh37 10 56138586 56138586 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 64 109 0 ENST00000361849.3:c.274C>T p.Gln92Ter p.Q92* ENST00000361849 NM_001142768.1 92 Caa/Taa 0 -PCDH20 UCSF GRCh37 13 61986537 61986537 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 50 89 0 ENST00000409186.1:c.1695G>A p.Glu565= p.E565= ENST00000409186 565 gaG/gaA 0 -PCDHA13 UCSF GRCh37 5 140263138 140263138 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 168 103 0 ENST00000289272.2:c.1285G>A p.Asp429Asn p.D429N ENST00000289272 NM_018904.2 429 Gac/Aac 0 -PCDHA13 UCSF GRCh37 5 140263738 140263738 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 126 51 0 ENST00000289272.2:c.1885G>A p.Gly629Ser p.G629S ENST00000289272 NM_018904.2 629 Ggc/Agc 0 -PCDHB15 UCSF GRCh37 5 140626910 140626910 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 95 44 0 ENST00000231173.3:c.1764G>A p.Lys588= p.K588= ENST00000231173 NM_018935.2 588 aaG/aaA 0 -PCDHB16 UCSF GRCh37 5 140563711 140563711 + missense_variant Missense_Mutation SNP A A C 1000g2011may_all_0.0597,snp132_rs17844652 P05_Rec Untested WXS Illumina HiSeq 41 8 49 1 ENST00000361016.2:c.1577A>C p.Glu526Ala p.E526A ENST00000361016 NM_020957.1 526 gAg/gCg 0 -PCDHB16 UCSF GRCh37 5 140563712 140563712 + missense_variant Missense_Mutation SNP G G T 1000g2011may_all_0.0455,snp132_rs17844653 P05_Rec Untested WXS Illumina HiSeq 41 8 52 1 ENST00000361016.2:c.1578G>T p.Glu526Asp p.E526D ENST00000361016 NM_020957.1 526 gaG/gaT 0 -PCDHGB2 UCSF GRCh37 5 140739819 140739819 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 40 68 0 ENST00000522605.1:c.117G>A p.Glu39= p.E39= ENST00000522605 NM_018923.2 39 gaG/gaA 0 -PCF11 UCSF GRCh37 11 82877001 82877001 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 147 88 97 0 ENST00000298281.4:c.1062G>A p.Lys354= p.K354= ENST00000298281 NM_015885.3 354 aaG/aaA 0 -PCLO UCSF GRCh37 7 82579344 82579344 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 248 87 181 0 ENST00000333891.9:c.10560G>A p.Thr3520= p.T3520= ENST00000333891 NM_033026.5 3520 acG/acA 0 -PCNT UCSF GRCh37 21 47786908 47786908 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 218 132 125 0 ENST00000359568.5:c.3019C>T p.Leu1007Phe p.L1007F ENST00000359568 NM_006031.5 1007 Ctt/Ttt 0 -PCNT UCSF GRCh37 21 47862463 47862463 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 31 15 0 ENST00000359568.5:c.9677C>T p.Ala3226Val p.A3226V ENST00000359568 NM_006031.5 3226 gCa/gTa 0 -PCNT UCSF GRCh37 21 47860958 47860958 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0014,snp132_rs78524660 P05_Rec Untested WXS Illumina HiSeq 80 40 49 0 ENST00000359568.5:c.9584G>A p.Arg3195Lys p.R3195K ENST00000359568 NM_006031.5 3195 aGg/aAg 0 -PCNXL2 UCSF GRCh37 1 233134083 233134083 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 30 37 0 ENST00000258229.9:c.5705G>A p.Gly1902Asp p.G1902D ENST00000258229 NM_014801.3 1902 gGt/gAt 0 -PCOLCE UCSF GRCh37 7 100205689 100205689 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 28 57 0 ENST00000223061.5:c.1313C>T p.Pro438Leu p.P438L ENST00000223061 NM_002593.3 438 cCc/cTc 0 -PCOLCE2 UCSF GRCh37 3 142606618 142606618 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 29 38 0 ENST00000295992.3:c.85C>T p.Pro29Ser p.P29S ENST00000295992 NM_013363.3 29 Cct/Tct 0 -PCSK9 UCSF GRCh37 1 55524305 55524305 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 19 23 0 ENST00000302118.5:c.1488G>A p.Arg496= p.R496= ENST00000302118 NM_174936.3 496 cgG/cgA 0 -PDCD11 UCSF GRCh37 10 105178277 105178277 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 44 57 0 ENST00000369797.3:c.1992C>T p.Leu664= p.L664= ENST00000369797 NM_014976.1 664 ctC/ctT 0 -PDE1C UCSF GRCh37 7 31912975 31912975 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 16 37 0 ENST00000396193.1:c.719G>A p.Ser240Asn p.S240N ENST00000396193 NM_001191058.1 240 aGt/aAt 0 -PDE4B UCSF GRCh37 1 66384414 66384414 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 38 69 0 ENST00000329654.4:c.177G>A p.Gln59= p.Q59= ENST00000329654 NM_001037341.1 59 caG/caA 0 -PDE4DIP UCSF GRCh37 1 144852379 144852379 + missense_variant Missense_Mutation SNP G G T 1000g2010nov_all_0.022,1000g2011may_all_0.05769,snp132_rs113954821 P05_Rec Untested WXS Illumina HiSeq 61 10 35 1 ENST00000369356.4:c.7064C>A p.Pro2355His p.P2355H ENST00000369356 NM_014644.5 2355 cCt/cAt 0 -PDGFRA UCSF GRCh37 4 55156572 55156572 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 179 56 89 0 ENST00000257290.5:c.2973C>T p.Val991= p.V991= ENST00000257290 NM_006206.4 991 gtC/gtT 0 -PDK4 UCSF GRCh37 7 95222149 95222149 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 132 49 100 0 ENST00000005178.5:c.452C>T p.Thr151Ile p.T151I ENST00000005178 NM_002612.3 151 aCc/aTc 0 -PDS5A UCSF GRCh37 4 39904041 39904041 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 37 74 0 ENST00000303538.8:c.1425C>T p.Pro475= p.P475= ENST00000303538 NM_001100399.1 475 ccC/ccT 0 -PDZD7 UCSF GRCh37 10 102770636 102770636 + downstream_gene_variant 3'Flank SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 5 11 9 0 ENST00000370220 0 -PEG10 UCSF GRCh37 7 94293624 94293624 + synonymous_variant Silent SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 171 35 39 0 ENST00000482108.1:c.756G>C p.Ser252= p.S252= ENST00000482108 NM_001172437.1 252 tcG/tcC 0 -PER1 UCSF GRCh37 17 8051124 8051124 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 18 17 0 ENST00000317276.4:c.1256C>T p.Pro419Leu p.P419L ENST00000317276 NM_002616.2 419 cCc/cTc 0 -PER3 UCSF GRCh37 1 7869993 7869993 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 86 32 26 0 ENST00000361923.2:c.1280G>A p.Gly427Glu p.G427E ENST00000361923 NM_016831.1 427 gGg/gAg 0 -PEX1 UCSF GRCh37 7 92131386 92131386 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 231 92 121 0 ENST00000248633.4:c.2234G>A p.Arg745Lys p.R745K ENST00000248633 NM_000466.2 745 aGa/aAa 0 -PFKFB4 UCSF GRCh37 3 48587361 48587361 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 21 49 0 ENST00000232375.3:c.247G>A p.Val83Ile p.V83I ENST00000232375 NM_004567.2 83 Gtc/Atc 0 -PGLYRP2 UCSF GRCh37 19 15587253 15587253 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 35 50 0 ENST00000340880.4:c.228C>T p.Leu76= p.L76= ENST00000340880 NM_052890.3 76 ctC/ctT 0 -PGS1 UCSF GRCh37 17 76399899 76399899 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 92 60 76 0 ENST00000262764.6:c.1131G>A p.Glu377= p.E377= ENST00000262764 NM_024419.3 377 gaG/gaA 0 -PHACTR1 UCSF GRCh37 6 13206076 13206076 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 134 57 87 0 ENST00000332995.7:c.694C>T p.Leu232= p.L232= ENST00000332995 232 Ctg/Ttg 0 -PHC3 UCSF GRCh37 3 169896720 169896720 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 192 64 182 0 ENST00000495893.2:c.21G>A p.Lys7= p.K7= ENST00000495893 NM_024947.3 7 aaG/aaA 0 -PHF2 UCSF GRCh37 9 96418217 96418217 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 18 9 11 0 ENST00000359246.4:c.954C>T p.Gly318= p.G318= ENST00000359246 NM_005392.3 318 ggC/ggT 0 -PHF20 UCSF GRCh37 20 34487567 34487567 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 7 40 0 ENST00000374012.3:c.1558C>T p.Pro520Ser p.P520S ENST00000374012 520 Cca/Tca 0 -PHLDB1 UCSF GRCh37 11 118514893 118514893 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 16 8 0 ENST00000361417.2:c.3121+1G>A p.X1041_splice ENST00000361417 NM_015157.3 0 -PHLPP2 UCSF GRCh37 16 71683592 71683592 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 181 69 52 0 ENST00000568954.1:c.3173C>T p.Thr1058Ile p.T1058I ENST00000568954 1058 aCc/aTc 0 -PI15 UCSF GRCh37 8 75757721 75757721 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 53 102 0 ENST00000260113.2:c.630C>T p.Asn210= p.N210= ENST00000260113 NM_015886.3 210 aaC/aaT 0 -PI4KA UCSF GRCh37 22 21159316 21159316 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 93 62 87 0 ENST00000255882.6:c.1306C>T p.Gln436Ter p.Q436* ENST00000255882 NM_058004.3 436 Cag/Tag 0 -PI4KA UCSF GRCh37 22 21101870 21101870 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 52 28 52 0 ENST00000255882.6:c.3363+1G>A p.X1121_splice ENST00000255882 NM_058004.3 0 -PI4KA UCSF GRCh37 22 21081530 21081530 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 21 24 0 ENST00000255882.6:c.4929G>A p.Arg1643= p.R1643= ENST00000255882 NM_058004.3 1643 cgG/cgA 0 -PIEZO2 UCSF GRCh37 18 10784940 10784940 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 39 83 0 ENST00000503781.3:c.2334C>T p.Gly778= p.G778= ENST00000503781 NM_022068.2 778 ggC/ggT 0 -PIGQ UCSF GRCh37 16 633059 633059 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 115 79 39 0 ENST00000026218.5:c.1708C>T p.Pro570Ser p.P570S ENST00000026218 NM_148920.2 570 Cca/Tca 0 -PIGR UCSF GRCh37 1 207107863 207107863 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 29 42 0 ENST00000356495.4:c.1607G>A p.Arg536Lys p.R536K ENST00000356495 NM_002644.3 536 aGg/aAg 0 -PIK3CB UCSF GRCh37 3 138433487 138433487 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 80 99 0 ENST00000289153.2:c.1125G>A p.Gly375= p.G375= ENST00000289153 NM_006219.2 375 ggG/ggA 0 -PIK3IP1 UCSF GRCh37 22 31688292 31688292 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 26 67 0 ENST00000215912.5:c.39C>T p.Asn13= p.N13= ENST00000215912 NM_052880.4 13 aaC/aaT 0 -PIK3R1 UCSF GRCh37 5 67591123 67591123 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 55 110 0 ENST00000274335.5:c.1716G>A p.Gln572= p.Q572= ENST00000274335 572 caG/caA 0 -PIN4 UCSF GRCh37 X 71401585 71401585 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 10 19 0 ENST00000373669.2:c.25G>A p.Gly9Arg p.G9R ENST00000373669 NM_006223.3 9 Ggg/Agg 0 -PION UCSF GRCh37 7 76984937 76984937 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 124 29 71 0 ENST00000257626.7:c.1055G>A p.Gly352Asp p.G352D ENST00000257626 NM_017439.3 352 gGt/gAt 0 -PIP5KL1 UCSF GRCh37 9 130692077 130692077 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 6 9 0 ENST00000388747.4:c.118C>T p.Arg40Cys p.R40C ENST00000388747 NM_001135219.1 40 Cgc/Tgc 0 -PITPNA UCSF GRCh37 17 1438748 1438748 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 117 56 115 0 ENST00000313486.7:c.521G>A p.Gly174Asp p.G174D ENST00000313486 NM_006224.3 174 gGc/gAc 0 -PIWIL1 UCSF GRCh37 12 130839435 130839435 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 104 30 114 0 ENST00000245255.3:c.1174C>T p.Leu392= p.L392= ENST00000245255 NM_004764.4 392 Cta/Tta 0 -PIWIL3 UCSF GRCh37 22 25115836 25115836 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 11 48 0 ENST00000332271.5:c.2411C>T p.Ser804Phe p.S804F ENST00000332271 NM_001255975.1 804 tCt/tTt 0 -PKD1 UCSF GRCh37 16 2155909 2155909 + missense_variant Missense_Mutation SNP T T A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 14 12 0 ENST00000262304.4:c.7820A>T p.His2607Leu p.H2607L ENST00000262304 NM_001009944.2 2607 cAc/cTc 0 -PKD1 UCSF GRCh37 16 2160968 2160968 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 54 26 0 ENST00000262304.4:c.4200G>A p.Leu1400= p.L1400= ENST00000262304 NM_001009944.2 1400 ctG/ctA 0 -PKD1L1 UCSF GRCh37 7 47920325 47920325 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 17 61 0 ENST00000289672.2:c.3520+1G>A p.X1174_splice ENST00000289672 NM_138295.3 0 -PKD1L1 UCSF GRCh37 7 47874767 47874767 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 39 14 16 0 ENST00000289672.2:c.6018G>A p.Gly2006= p.G2006= ENST00000289672 NM_138295.3 2006 ggG/ggA 0 -PKD1L1 UCSF GRCh37 7 47968988 47968988 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 141 54 100 0 ENST00000289672.2:c.873C>T p.Asn291= p.N291= ENST00000289672 NM_138295.3 291 aaC/aaT 0 -PKD1L3 UCSF GRCh37 16 71976564 71976564 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 154 46 112 0 ENST00000534738.1:n.4219G>A *1407* ENST00000534738 0 -PKDREJ UCSF GRCh37 22 46657443 46657443 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 35 69 0 ENST00000253255.5:c.1777C>T p.Pro593Ser p.P593S ENST00000253255 NM_006071.1 593 Cct/Tct 0 -PKP1 UCSF GRCh37 1 201293710 201293710 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 23 12 27 0 ENST00000263946.3:c.1897+1G>A p.X633_splice ENST00000263946 NM_000299.3 0 -PLA1A UCSF GRCh37 3 119316765 119316765 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 16 4 13 0 ENST00000273371.4:c.5C>T p.Pro2Leu p.P2L ENST00000273371 NM_015900.3 2 cCc/cTc 0 -PLA2R1 UCSF GRCh37 2 160801461 160801461 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 45 77 0 ENST00000283243.7:c.4100C>T p.Ser1367Phe p.S1367F ENST00000283243 NM_001195641.1 1367 tCc/tTc 0 -PLA2R1 UCSF GRCh37 2 160806163 160806163 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 42 71 0 ENST00000283243.7:c.3665C>T p.Ala1222Val p.A1222V ENST00000283243 NM_001195641.1 1222 gCc/gTc 0 -PLCE1 UCSF GRCh37 10 96033478 96033478 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 16 26 69 0 ENST00000371380.3:c.4665+1G>A p.X1555_splice ENST00000371380 0 -PLCG1 UCSF GRCh37 20 39792412 39792412 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 70 102 0 ENST00000373272.2:c.949G>A p.Val317Ile p.V317I ENST00000373272 NM_002660.2 317 Gta/Ata 0 -PLCG1 UCSF GRCh37 20 39798167 39798167 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 46 62 0 ENST00000373272.2:c.2650+1G>A p.X884_splice ENST00000373272 NM_002660.2 0 -PLCH1 UCSF GRCh37 3 155271904 155271904 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 50 15 62 0 ENST00000340059.7:c.1115T>G p.Val372Gly p.V372G ENST00000340059 NM_001130960.1 372 gTt/gGt 0 -PLCL1 UCSF GRCh37 2 198950221 198950221 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 55 45 59 0 ENST00000428675.1:c.1980G>A p.Trp660Ter p.W660* ENST00000428675 NM_006226.3 660 tgG/tgA 0 -PLCL2 UCSF GRCh37 3 17051631 17051631 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 75 77 0 ENST00000418129.2:c.415G>A p.Asp139Asn p.D139N ENST00000418129 NM_001144382.1 139 Gat/Aat 0 -PLCL2 UCSF GRCh37 3 17053574 17053574 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 153 32 73 0 ENST00000418129.2:c.2358G>A p.Trp786Ter p.W786* ENST00000418129 NM_001144382.1 786 tgG/tgA 0 -PLD2 UCSF GRCh37 17 4712455 4712455 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 43 57 0 ENST00000263088.6:c.444C>T p.Pro148= p.P148= ENST00000263088 NM_001243108.1 148 ccC/ccT 0 -PLEKHG1 UCSF GRCh37 6 151152103 151152103 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 43 92 0 ENST00000367328.1:c.1856C>T p.Pro619Leu p.P619L ENST00000367328 NM_001029884.1 619 cCt/cTt 0 -PLEKHH3 UCSF GRCh37 17 40822682 40822682 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 39 28 0 ENST00000591022.1:c.1463C>T p.Ser488Phe p.S488F ENST00000591022 NM_024927.4 488 tCc/tTc 0 -PLEKHM1 UCSF GRCh37 17 43530914 43530914 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 87 36 77 0 ENST00000430334.3:c.2304G>A p.Trp768Ter p.W768* ENST00000430334 NM_014798.2 768 tgG/tgA 0 -PLEKHM3 UCSF GRCh37 2 208842115 208842115 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 48 102 0 ENST00000427836.2:c.806G>A p.Gly269Asp p.G269D ENST00000427836 NM_001080475.2 269 gGc/gAc 0 -PLEKHM3 UCSF GRCh37 2 208693094 208693094 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 55 96 0 ENST00000427836.2:c.2235G>A p.Glu745= p.E745= ENST00000427836 NM_001080475.2 745 gaG/gaA 0 -PLEKHN1 UCSF GRCh37 1 909744 909744 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 34 30 0 ENST00000379410.3:c.1702G>A p.Asp568Asn p.D568N ENST00000379410 NM_032129.2 568 Gat/Aat 0 -PLEKHO2 UCSF GRCh37 15 65140927 65140927 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 50 75 0 ENST00000323544.4:c.148G>A p.Val50Ile p.V50I ENST00000323544 NM_025201.4 50 Gtc/Atc 0 -PLG UCSF GRCh37 6 161128732 161128732 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 150 66 177 0 ENST00000308192.9:c.186G>A p.Arg62= p.R62= ENST00000308192 NM_000301.3 62 agG/agA 0 -PLIN4 UCSF GRCh37 19 4511827 4511827 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 682 132 341 0 ENST00000301286.3:c.2103C>T p.Val701= p.V701= ENST00000301286 NM_001080400.1 701 gtC/gtT 0 -PLK1S1 UCSF GRCh37 20 21209665 21209665 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 53 89 0 ENST00000457464.1:n.1292G>A *431* ENST00000457464 0 -PLOD2 UCSF GRCh37 3 145788564 145788564 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 41 12 35 0 ENST00000282903.5:c.2217T>G p.His739Gln p.H739Q ENST00000282903 NM_182943.2 739 caT/caG 0 -PLP1 UCSF GRCh37 X 103042780 103042780 + stop_gained Nonsense_Mutation SNP C C A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 65 78 0 ENST00000418604.1:c.507C>A p.Cys169Ter p.C169* ENST00000418604 NM_001128834.1 169 tgC/tgA 0 -PLS3 UCSF GRCh37 X 114882259 114882259 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 61 98 1 ENST00000420625.2:c.1682C>T p.Ala561Val p.A561V ENST00000420625 NM_001136025.3 561 gCc/gTc 0 -PLSCR4 UCSF GRCh37 3 145924354 145924354 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 31 80 0 ENST00000354952.2:c.313C>T p.Pro105Ser p.P105S ENST00000354952 NM_020353.2 105 Cct/Tct 0 -PLXNB2 UCSF GRCh37 22 50724666 50724666 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0034 P05_Rec Untested WXS Illumina HiSeq 33 68 50 0 ENST00000449103.1:c.1813C>T p.Leu605Phe p.L605F ENST00000449103 605 Ctc/Ttc 0 -PMAIP1 UCSF GRCh37 18 57569967 57569967 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 72 53 85 0 ENST00000316660.6:c.147C>T p.Leu49= p.L49= ENST00000316660 NM_021127.2 49 ctC/ctT 0 -PMEL UCSF GRCh37 12 56348011 56348011 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 41 37 62 0 ENST00000449260.2:c.1994G>A p.Gly665Glu p.G665E ENST00000449260 NM_001200054.1 665 gGg/gAg 0 -PNO1 UCSF GRCh37 2 68385661 68385661 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 41 62 0 ENST00000263657.2:c.357G>A p.Arg119= p.R119= ENST00000263657 NM_020143.2 119 agG/agA 0 -PNPLA6 UCSF GRCh37 19 7623800 7623800 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 30 14 0 ENST00000414982.3:c.3492G>A p.Glu1164= p.E1164= ENST00000414982 NM_001166111.1 1164 gaG/gaA 0 -PNPLA7 UCSF GRCh37 9 140416145 140416145 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 79 32 43 0 ENST00000406427.1:c.900G>A p.Arg300= p.R300= ENST00000406427 NM_001098537.1 300 agG/agA 0 -PNPLA8 UCSF GRCh37 7 108155515 108155515 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 183 53 35 0 ENST00000422087.1:c.421G>A p.Asp141Asn p.D141N ENST00000422087 NM_015723.3 141 Gat/Aat 0 -PNPT1 UCSF GRCh37 2 55912183 55912183 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 25 41 0 ENST00000447944.2:c.298G>A p.Val100Ile p.V100I ENST00000447944 NM_033109.4 100 Gtt/Att 0 -PODN UCSF GRCh37 1 53542970 53542970 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 91 67 0 ENST00000312553.5:c.834C>T p.Arg278= p.R278= ENST00000312553 NM_001199081.1 278 cgC/cgT 0 -POF1B UCSF GRCh37 X 84600880 84600880 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 107 58 119 0 ENST00000262753.4:c.709C>T p.Gln237Ter p.Q237* ENST00000262753 NM_024921.3 237 Cag/Tag 0 -POFUT2 UCSF GRCh37 21 46705667 46705667 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 36 85 0 ENST00000349485.5:c.308C>T p.Pro103Leu p.P103L ENST00000349485 NM_133635.4 103 cCc/cTc 0 -POGZ UCSF GRCh37 1 151384149 151384149 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 19 74 0 ENST00000271715.2:c.1878G>A p.Lys626= p.K626= ENST00000271715 NM_015100.3 626 aaG/aaA 0 -POLD2 UCSF GRCh37 7 44157619 44157619 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 24 48 0 ENST00000406581.2:c.265G>A p.Glu89Lys p.E89K ENST00000406581 NM_001256879.1 89 Gag/Aag 0 -POLD2 UCSF GRCh37 7 44154928 44154928 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 126 33 56 0 ENST00000406581.2:c.1215C>T p.Gly405= p.G405= ENST00000406581 NM_001256879.1 405 ggC/ggT 0 -POLH UCSF GRCh37 6 43581825 43581825 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 52 98 0 ENST00000372236.4:c.1673C>T p.Ser558Phe p.S558F ENST00000372236 NM_006502.2 558 tCc/tTc 0 -POLK UCSF GRCh37 5 74892054 74892054 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 49 58 0 ENST00000241436.4:c.1536G>A p.Arg512= p.R512= ENST00000241436 NM_016218.2 512 cgG/cgA 0 -POLQ UCSF GRCh37 3 121208155 121208155 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 170 54 173 0 ENST00000264233.5:c.3623C>T p.Thr1208Ile p.T1208I ENST00000264233 NM_199420.3 1208 aCc/aTc 0 -POLR1B UCSF GRCh37 2 113308465 113308465 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 68 91 0 ENST00000263331.5:c.648G>A p.Arg216= p.R216= ENST00000263331 NM_019014.4 216 agG/agA 0 -POLR3G UCSF GRCh37 5 89781475 89781475 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 56 101 0 ENST00000399107.1:c.91G>A p.Val31Met p.V31M ENST00000399107 NM_006467.2 31 Gtg/Atg 0 -POM121 UCSF GRCh37 7 72413497 72413497 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 378 72 89 0 ENST00000395270.1:c.2170C>T p.Pro724Ser p.P724S ENST00000395270 NM_001257190.2 724 Ccc/Tcc 0 -POM121 UCSF GRCh37 7 72413724 72413725 + inframe_insertion In_Frame_Ins INS - - CTC NOVEL P05_Rec Untested WXS Illumina HiSeq 6 0 ENST00000395270.1:c.2397_2398insCTC p.Phe799_Phe800insLeu p.F799_F800insL ENST00000395270 NM_001257190.2 799 -/CTC 0 -POMT1 UCSF GRCh37 9 134395559 134395559 + stop_gained Nonsense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 81 30 37 0 ENST00000372228.3:c.1743C>G p.Tyr581Ter p.Y581* ENST00000372228 NM_007171.3 581 taC/taG 0 -POTED UCSF GRCh37 21 14982904 14982904 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.1135 P05_Rec Untested WXS Illumina HiSeq 261 34 178 1 ENST00000299443.5:c.355G>A p.Ala119Thr p.A119T ENST00000299443 NM_174981.3 119 Gct/Act 0 -POTEF UCSF GRCh37 2 130877870 130877870 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 270 161 206 0 ENST00000357462.5:c.219G>A p.Arg73= p.R73= ENST00000357462 73 agG/agA 0 -POU4F1 UCSF GRCh37 13 79175722 79175722 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 66 40 0 ENST00000377208.5:c.1088C>T p.Ala363Val p.A363V ENST00000377208 NM_006237.3 363 gCc/gTc 0 -PPFIA2 UCSF GRCh37 12 81661691 81661691 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 68 55 0 ENST00000549396.1:c.3486G>A p.Gln1162= p.Q1162= ENST00000549396 NM_003625.3 1162 caG/caA 0 -PPFIBP1 UCSF GRCh37 12 27844847 27844847 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 40 97 0 ENST00000318304.8:c.2869G>A p.Asp957Asn p.D957N ENST00000318304 NM_177444.2 957 Gac/Aac 0 -PPIB UCSF GRCh37 15 64448978 64448978 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 112 82 89 0 ENST00000300026.3:c.474G>A p.Lys158= p.K158= ENST00000300026 NM_000942.4 158 aaG/aaA 0 -PPME1 UCSF GRCh37 11 73962009 73962009 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 88 36 88 0 ENST00000328257.8:c.1020G>A p.Gln340= p.Q340= ENST00000328257 NM_016147.2 340 caG/caA 0 -PPP1R12A UCSF GRCh37 12 80202309 80202309 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 61 91 0 ENST00000450142.2:c.1504C>T p.Pro502Ser p.P502S ENST00000450142 NM_002480.2 502 Cca/Tca 0 -PPP1R15B UCSF GRCh37 1 204378931 204378931 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 52 44 63 0 ENST00000367188.4:c.1609T>C p.Ser537Pro p.S537P ENST00000367188 NM_032833.3 537 Tct/Cct 0 -PPP1R9A UCSF GRCh37 7 94539568 94539568 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 34 48 0 ENST00000433360.1:c.143G>A p.Gly48Asp p.G48D ENST00000433360 NM_001166160.1 48 gGt/gAt 0 -PPP1R9B UCSF GRCh37 17 48212917 48212917 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 46 56 0 ENST00000316878.6:c.2394+1G>A p.X798_splice ENST00000316878 NM_032595.3 0 -PPP6R1 UCSF GRCh37 19 55743017 55743017 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 16 10 0 ENST00000412770.2:c.2326C>T p.Pro776Ser p.P776S ENST00000412770 NM_014931.3 776 Ccc/Tcc 0 -PPP6R1 UCSF GRCh37 19 55743302 55743302 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 20 12 0 ENST00000412770.2:c.2174C>T p.Thr725Ile p.T725I ENST00000412770 NM_014931.3 725 aCc/aTc 0 -PPP6R2 UCSF GRCh37 22 50877097 50877097 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 21 38 33 0 ENST00000395741.3:c.1956G>A p.Lys652= p.K652= ENST00000395741 652 aaG/aaA 0 -PRAMEF1 UCSF GRCh37 1 12854622 12854622 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 153 66 149 0 ENST00000332296.7:c.846G>A p.Gly282= p.G282= ENST00000332296 NM_023013.2 282 ggG/ggA 0 -PRAMEF12 UCSF GRCh37 1 12837214 12837214 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 152 77 135 0 ENST00000357726.4:c.924C>T p.Asp308= p.D308= ENST00000357726 NM_001080830.1 308 gaC/gaT 0 -PRDM10 UCSF GRCh37 11 129800986 129800986 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 56 43 0 ENST00000358825.5:c.1455G>A p.Pro485= p.P485= ENST00000358825 NM_020228.2 485 ccG/ccA 0 -PRDM15 UCSF GRCh37 21 43274688 43274688 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 30 20 0 ENST00000269844.3:c.1623C>T p.Gly541= p.G541= ENST00000269844 NM_022115.3 541 ggC/ggT 0 -PRDM4 UCSF GRCh37 12 108128109 108128109 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 181 83 142 0 ENST00000228437.5:c.2284C>T p.Pro762Ser p.P762S ENST00000228437 NM_012406.3 762 Cca/Tca 0 -PRDM4 UCSF GRCh37 12 108134731 108134731 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 107 47 76 0 ENST00000228437.5:c.1916T>C p.Ile639Thr p.I639T ENST00000228437 NM_012406.3 639 aTa/aCa 0 -PRDM8 UCSF GRCh37 4 81123189 81123189 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 105 57 48 0 ENST00000339711.4:c.573C>T p.Asp191= p.D191= ENST00000339711 NM_020226.3 191 gaC/gaT 0 -PREP UCSF GRCh37 6 105825268 105825268 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 100 64 103 0 ENST00000369110.3:c.247G>A p.Gly83Arg p.G83R ENST00000369110 NM_002726.4 83 Gga/Aga 0 -PREX1 UCSF GRCh37 20 47270005 47270005 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 110 55 93 0 ENST00000371941.3:c.2240C>T p.Ala747Val p.A747V ENST00000371941 NM_020820.3 747 gCt/gTt 0 -PREX1 UCSF GRCh37 20 47309310 47309310 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 89 41 65 0 ENST00000371941.3:c.936G>A p.Lys312= p.K312= ENST00000371941 NM_020820.3 312 aaG/aaA 0 -PREX1 UCSF GRCh37 20 47269244 47269244 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 32 38 0 ENST00000371941.3:c.2347G>A p.Gly783Ser p.G783S ENST00000371941 NM_020820.3 783 Ggc/Agc 0 -PRG4 UCSF GRCh37 1 186276268 186276291 + inframe_deletion In_Frame_Del DEL GAGCCTGCACCCACCACTCCCAAA GAGCCTGCACCCACCACTCCCAAA - NOVEL P05_Rec Untested WXS Illumina HiSeq 33 0 ENST00000445192.2:c.1431_1454del p.Thr478_Thr485del p.T478_T485del ENST00000445192 NM_005807.3 473 GAGCCTGCACCCACCACTCCCAAA/- 0 -PRIMA1 UCSF GRCh37 14 94203672 94203672 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 13 47 0 ENST00000393140.1:c.274G>A p.Gly92Arg p.G92R ENST00000393140 NM_178013.3 92 Ggg/Agg 0 -PRKAB2 UCSF GRCh37 1 146639345 146639345 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 134 85 132 0 ENST00000254101.3:c.323+1G>A p.X108_splice ENST00000254101 NM_005399.4 0 -PRKAG2 UCSF GRCh37 7 151273519 151273519 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 10 16 0 ENST00000287878.4:c.884C>T p.Ala295Val p.A295V ENST00000287878 NM_016203.3 295 gCt/gTt 0 -PRKAR1B UCSF GRCh37 7 720262 720262 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 29 29 0 ENST00000406797.1:c.279C>T p.Ala93= p.A93= ENST00000406797 NM_001164761.1 93 gcC/gcT 0 -PRKAR2B UCSF GRCh37 7 106799893 106799893 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 19 75 0 ENST00000265717.4:c.1124-1G>A p.X375_splice ENST00000265717 NM_002736.2 0 -PRKCE UCSF GRCh37 2 46378252 46378252 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 5 19 15 0 ENST00000306156.3:c.1804G>A p.Ala602Thr p.A602T ENST00000306156 NM_005400.2 602 Gct/Act 0 -PRKCH UCSF GRCh37 14 61915909 61915909 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 31 43 0 ENST00000332981.5:c.641G>A p.Cys214Tyr p.C214Y ENST00000332981 NM_006255.3 214 tGc/tAc 0 -PRKCZ UCSF GRCh37 1 2087490 2087490 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 117 64 120 0 ENST00000378567.3:c.933C>T p.Pro311= p.P311= ENST00000378567 NM_002744.4 311 ccC/ccT 0 -PRKDC UCSF GRCh37 8 48715922 48715922 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 107 60 80 0 ENST00000314191.2:c.9864G>A p.Arg3288= p.R3288= ENST00000314191 NM_006904.6 3288 cgG/cgA 0 -PRKG2 UCSF GRCh37 4 82031649 82031649 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 29 66 0 ENST00000395578.1:c.1893G>A p.Val631= p.V631= ENST00000395578 631 gtG/gtA 0 -PRLHR UCSF GRCh37 10 120354123 120354123 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 9 23 10 0 ENST00000239032.2:c.634G>A p.Glu212Lys p.E212K ENST00000239032 NM_004248.2 212 Gag/Aag 0 -PRM3 UCSF GRCh37 16 11367397 11367397 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 6 8 0 ENST00000327157.2:c.56G>A p.Gly19Asp p.G19D ENST00000327157 NM_021247.1 19 gGc/gAc 0 -PROK1 UCSF GRCh37 1 110996646 110996646 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 23 11 0 ENST00000271331.3:c.136G>A p.Gly46Arg p.G46R ENST00000271331 NM_032414.2 46 Ggg/Agg 0 -PROX2 UCSF GRCh37 14 75330486 75330486 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 25 51 0 ENST00000556084.2:c.52C>T p.Leu18= p.L18= ENST00000556084 NM_001080408.2 18 Cta/Tta 0 -PRR14 UCSF GRCh37 16 30664057 30664057 + missense_variant Missense_Mutation SNP T T A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 42 44 0 ENST00000542965.2:c.208T>A p.Ser70Thr p.S70T ENST00000542965 70 Tca/Aca 0 -PRRC2A UCSF GRCh37 6 31592294 31592294 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 22 15 0 ENST00000376033.2:c.458G>A p.Gly153Glu p.G153E ENST00000376033 NM_004638.3 153 gGa/gAa 0 -PRRC2B UCSF GRCh37 9 134350643 134350643 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 41 33 0 ENST00000357304.4:c.3127C>T p.Pro1043Ser p.P1043S ENST00000357304 NM_013318.3 1043 Ccc/Tcc 0 -PRRC2C UCSF GRCh37 1 171509690 171509690 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 119 62 61 0 ENST00000338920.4:c.3079G>A p.Glu1027Lys p.E1027K ENST00000338920 NM_015172.3 1027 Gaa/Aaa 0 -PRRC2C UCSF GRCh37 1 171514630 171514630 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 42 52 0 ENST00000338920.4:c.4770C>T p.Asp1590= p.D1590= ENST00000338920 NM_015172.3 1590 gaC/gaT 0 -PRSS48 UCSF GRCh37 4 152212490 152212490 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 80 90 0 ENST00000455694.2:c.872C>T p.Pro291Leu p.P291L ENST00000455694 NM_183375.2 291 cCc/cTc 0 -PRSS57 UCSF GRCh37 19 686978 686978 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 19 17 0 ENST00000329267.7:c.592C>T p.Leu198Phe p.L198F ENST00000329267 NM_214710.3 198 Ctt/Ttt 0 -PRUNE UCSF GRCh37 1 150999738 150999738 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 11 32 0 ENST00000271620.3:c.709G>T p.Asp237Tyr p.D237Y ENST00000271620 NM_021222.1 237 Gac/Tac 0 -PSG4 UCSF GRCh37 19 43699353 43699353 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 173 106 226 0 ENST00000405312.3:c.782C>T p.Thr261Ile p.T261I ENST00000405312 NM_002780.4 261 aCc/aTc 0 -PSG8 UCSF GRCh37 19 43259405 43259405 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 86 237 0 ENST00000306511.4:c.723G>A p.Lys241= p.K241= ENST00000306511 NM_182707.2 241 aaG/aaA 0 -PSMD1 UCSF GRCh37 2 232028412 232028412 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 17 35 66 0 ENST00000308696.6:c.2452G>A p.Glu818Lys p.E818K ENST00000308696 NM_002807.3 818 Gaa/Aaa 0 -PSMD2 UCSF GRCh37 3 184017640 184017640 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 114 28 67 0 ENST00000310118.4:c.137C>T p.Ser46Phe p.S46F ENST00000310118 NM_002808.4 46 tCt/tTt 0 -PSME4 UCSF GRCh37 2 54117319 54117319 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 54 102 0 ENST00000404125.1:c.4218C>T p.Cys1406= p.C1406= ENST00000404125 NM_014614.2 1406 tgC/tgT 0 -PSTPIP2 UCSF GRCh37 18 43578776 43578776 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 92 51 61 0 ENST00000409746.5:c.546C>T p.Thr182= p.T182= ENST00000409746 NM_024430.3 182 acC/acT 0 -PTCH1 UCSF GRCh37 9 98231306 98231306 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 107 48 66 0 ENST00000331920.6:c.1977G>A p.Gln659= p.Q659= ENST00000331920 NM_000264.3 659 caG/caA 0 -PTCHD2 UCSF GRCh37 1 11580875 11580875 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 20 11 0 ENST00000294484.6:c.2332G>A p.Ala778Thr p.A778T ENST00000294484 NM_020780.1 778 Gcc/Acc 0 -PTH1R UCSF GRCh37 3 46939927 46939927 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 17 20 30 0 ENST00000313049.5:c.603C>T p.Ser201= p.S201= ENST00000313049 201 tcC/tcT 0 -PTH2R UCSF GRCh37 2 209358284 209358284 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 106 69 67 0 ENST00000272847.2:c.1553G>A p.Gly518Glu p.G518E ENST00000272847 NM_005048.3 518 gGg/gAg 0 -PTPN13 UCSF GRCh37 4 87691066 87691066 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 147 75 139 0 ENST00000436978.1:c.4649G>A p.Ser1550Asn p.S1550N ENST00000436978 NM_080685.2 1550 aGt/aAt 0 -PTPN13 UCSF GRCh37 4 87556525 87556525 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 34 62 0 ENST00000436978.1:c.115+1G>A p.X39_splice ENST00000436978 NM_080685.2 0 -PTPN9 UCSF GRCh37 15 75819501 75819501 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 24 34 0 ENST00000306726.2:c.165G>A p.Lys55= p.K55= ENST00000306726 NM_002833.2 55 aaG/aaA 0 -PTPRB UCSF GRCh37 12 70928355 70928355 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 13 11 0 ENST00000334414.6:c.6281C>T p.Thr2094Ile p.T2094I ENST00000334414 NM_001109754.2 2094 aCc/aTc 0 -PTPRD UCSF GRCh37 9 8331732 8331732 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 31 61 0 ENST00000356435.5:c.5384G>A p.Gly1795Asp p.G1795D ENST00000356435 1795 gGc/gAc 0 -PTPRD UCSF GRCh37 9 8518062 8518062 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 140 63 154 0 ENST00000356435.5:c.1329G>A p.Glu443= p.E443= ENST00000356435 443 gaG/gaA 0 -PTPRS UCSF GRCh37 19 5244361 5244361 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 49 50 0 ENST00000357368.4:c.1121G>A p.Gly374Glu p.G374E ENST00000357368 NM_002850.3 374 gGg/gAg 0 -PTPRS UCSF GRCh37 19 5231583 5231583 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 12 11 0 ENST00000357368.4:c.1893C>T p.Arg631= p.R631= ENST00000357368 NM_002850.3 631 cgC/cgT 0 -PTPRZ1 UCSF GRCh37 7 121653840 121653840 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 192 50 146 0 ENST00000393386.2:c.4740G>A p.Gly1580= p.G1580= ENST00000393386 NM_001206838.1 1580 ggG/ggA 0 -PWP2 UCSF GRCh37 21 45545915 45545915 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 30 55 0 ENST00000291576.7:c.1989G>A p.Met663Ile p.M663I ENST00000291576 NM_005049.2 663 atG/atA 0 -PWWP2A UCSF GRCh37 5 159545853 159545853 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 11 18 12 0 ENST00000307063.7:c.543G>A p.Gly181= p.G181= ENST00000307063 NM_001130864.1 181 ggG/ggA 0 -PWWP2B UCSF GRCh37 10 134218986 134218986 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 16 20 13 0 ENST00000305233.5:c.982C>T p.Leu328= p.L328= ENST00000305233 NM_138499.3 328 Ctg/Ttg 0 -PXK UCSF GRCh37 3 58398660 58398660 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 30 87 0 ENST00000356151.2:c.1498C>T p.Pro500Ser p.P500S ENST00000356151 NM_017771.3 500 Ccg/Tcg 0 -QRICH2 UCSF GRCh37 17 74288835 74288835 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 31 54 0 ENST00000262765.5:c.1475G>A p.Gly492Asp p.G492D ENST00000262765 NM_032134.1 492 gGt/gAt 0 -R3HDM1 UCSF GRCh37 2 136403047 136403047 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 59 37 53 0 ENST00000264160.4:c.1573C>T p.Pro525Ser p.P525S ENST00000264160 NM_015361.2 525 Cct/Tct 0 -R3HDM2 UCSF GRCh37 12 57662174 57662174 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 36 57 0 ENST00000347140.3:c.1900G>A p.Val634Met p.V634M ENST00000347140 634 Gtg/Atg 0 -RAB32 UCSF GRCh37 6 146870851 146870851 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 21 52 0 ENST00000367495.3:c.502G>A p.Ala168Thr p.A168T ENST00000367495 NM_006834.3 168 Gcc/Acc 0 -RAB36 UCSF GRCh37 22 23503121 23503121 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.236,1000g2011may_all_0.3625,snp132_rs5759611 P05_Rec Untested WXS Illumina HiSeq 55 35 46 1 ENST00000263116.2:c.873G>A p.Ser291= p.S291= ENST00000263116 NM_004914.2 291 tcG/tcA 0 -RAB3D UCSF GRCh37 19 11436176 11436176 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 98 55 42 0 ENST00000222120.3:c.558G>A p.Lys186= p.K186= ENST00000222120 NM_004283.3 186 aaG/aaA 0 -RAB3GAP1 UCSF GRCh37 2 135926128 135926128 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 65 79 0 ENST00000442034.1:c.2744C>T p.Thr915Ile p.T915I ENST00000442034 NM_001172435.1 915 aCt/aTt 0 -RAB5C UCSF GRCh37 17 40280691 40280691 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 44 80 0 ENST00000547517.1:c.393C>T p.Ile131= p.I131= ENST00000547517 NM_001252039.1 131 atC/atT 0 -RAD18 UCSF GRCh37 3 8940660 8940660 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 18 49 0 ENST00000264926.2:c.1240G>A p.Glu414Lys p.E414K ENST00000264926 NM_020165.3 414 Gaa/Aaa 0 -RAD18 UCSF GRCh37 3 8940694 8940694 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 106 16 54 0 ENST00000264926.2:c.1206T>C p.Phe402= p.F402= ENST00000264926 NM_020165.3 402 ttT/ttC 0 -RANBP10 UCSF GRCh37 16 67763929 67763929 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 69 28 28 0 ENST00000317506.3:c.910G>A p.Glu304Lys p.E304K ENST00000317506 NM_020850.1 304 Gag/Aag 0 -RANBP17 UCSF GRCh37 5 170380687 170380687 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 6 14 46 0 ENST00000523189.1:c.1555G>A p.Asp519Asn p.D519N ENST00000523189 NM_022897.3 519 Gat/Aat 0 -RANGAP1 UCSF GRCh37 22 41660817 41660817 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 39 58 0 ENST00000455915.2:c.331G>A p.Gly111Arg p.G111R ENST00000455915 111 Ggg/Agg 0 -RASSF2 UCSF GRCh37 20 4776541 4776541 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 37 45 0 ENST00000379400.3:c.207G>A p.Gln69= p.Q69= ENST00000379400 NM_014737.2 69 caG/caA 0 -RB1CC1 UCSF GRCh37 8 53573509 53573509 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 22 52 0 ENST00000025008.5:c.1604G>A p.Arg535Lys p.R535K ENST00000025008 NM_014781.4 535 aGg/aAg 0 -RB1CC1 UCSF GRCh37 8 53569395 53569395 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 137 68 129 0 ENST00000025008.5:c.2994G>A p.Arg998= p.R998= ENST00000025008 NM_014781.4 998 agG/agA 0 -RBAK UCSF GRCh37 7 5097359 5097359 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 29 104 0 ENST00000396904.2:c.187G>A p.Gly63Arg p.G63R ENST00000396904 NM_001204513.1 63 Gga/Aga 0 -RBL2 UCSF GRCh37 16 53487653 53487653 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 44 47 0 ENST00000262133.6:c.964C>T p.Leu322= p.L322= ENST00000262133 NM_005611.3 322 Cta/Tta 0 -RBM14 UCSF GRCh37 11 66392419 66392419 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 136 105 86 0 ENST00000310137.4:c.1072G>A p.Val358Ile p.V358I ENST00000310137 NM_006328.3 358 Gtt/Att 0 -RBP2 UCSF GRCh37 3 139195235 139195235 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 22 34 0 ENST00000232217.2:c.67G>A p.Ala23Thr p.A23T ENST00000232217 NM_004164.2 23 Gcc/Acc 0 -RBP3 UCSF GRCh37 10 48390586 48390586 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 56 40 0 ENST00000224600.4:c.292C>T p.Pro98Ser p.P98S ENST00000224600 NM_002900.2 98 Cct/Tct 0 -RBPJL UCSF GRCh37 20 43936831 43936831 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 44 30 0 ENST00000343694.3:c.71G>A p.Arg24Lys p.R24K ENST00000343694 NM_001281449.1 24 aGa/aAa 0 -RCCD1 UCSF GRCh37 15 91504989 91504989 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 43 65 0 ENST00000394258.2:c.1121G>A p.Gly374Glu p.G374E ENST00000394258 NM_033544.2 374 gGg/gAg 0 -REEP4 UCSF GRCh37 8 21997031 21997031 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 16 22 0 ENST00000306306.3:c.315G>A p.Ala105= p.A105= ENST00000306306 NM_025232.2 105 gcG/gcA 0 -RELN UCSF GRCh37 7 103183256 103183256 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 95 69 97 0 ENST00000428762.1:c.6593C>T p.Ser2198Phe p.S2198F ENST00000428762 NM_005045.3 2198 tCt/tTt 0 -RELN UCSF GRCh37 7 103163894 103163894 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 145 56 131 0 ENST00000428762.1:c.7434G>A p.Gly2478= p.G2478= ENST00000428762 NM_005045.3 2478 ggG/ggA 0 -REXO1L1 UCSF GRCh37 8 86575271 86575271 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 8 16 14 0 ENST00000379010.2:c.456G>A p.Gln152= p.Q152= ENST00000379010 NM_172239.4 152 caG/caA 0 -RFWD3 UCSF GRCh37 16 74685996 74685996 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 37 79 0 ENST00000361070.4:c.543C>T p.Tyr181= p.Y181= ENST00000361070 NM_018124.3 181 taC/taT 0 -RFX3 UCSF GRCh37 9 3225266 3225266 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 26 43 0 ENST00000382004.3:c.2026G>A p.Val676Ile p.V676I ENST00000382004 NM_134428.1 676 Gta/Ata 0 -RFX8 UCSF GRCh37 2 102019210 102019210 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 60 25 37 0 ENST00000428343.1:c.933C>T p.Ser311= p.S311= ENST00000428343 NM_001145664.1 311 tcC/tcT 0 -RGNEF UCSF GRCh37 5 73142300 73142300 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 51 85 0 ENST00000545377.1:c.1635G>A p.Lys545= p.K545= ENST00000545377 NM_001080479.2 545 aaG/aaA 0 -RGPD4 UCSF GRCh37 2 108489331 108489331 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 110 63 230 0 ENST00000408999.3:c.4871C>T p.Ser1624Phe p.S1624F ENST00000408999 NM_182588.2 1624 tCc/tTc 0 -RGS12 UCSF GRCh37 4 3432488 3432488 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 16 14 10 0 ENST00000344733.5:c.3920C>T p.Ser1307Phe p.S1307F ENST00000344733 NM_198229.2 1307 tCc/tTc 0 -RHBDF1 UCSF GRCh37 16 108500 108500 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 123 79 86 0 ENST00000262316.6:c.2407C>T p.Gln803Ter p.Q803* ENST00000262316 NM_022450.3 803 Cag/Tag 0 -RHBDF2 UCSF GRCh37 17 74469754 74469754 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 30 7 12 0 ENST00000313080.4:c.1796C>T p.Pro599Leu p.P599L ENST00000313080 NM_024599.5 599 cCc/cTc 0 -RHO UCSF GRCh37 3 129252456 129252456 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 133 47 76 0 ENST00000296271.3:c.942G>A p.Arg314= p.R314= ENST00000296271 NM_000539.3 314 cgG/cgA 0 -RHOBTB3 UCSF GRCh37 5 95088031 95088031 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 61 59 0 ENST00000379982.3:c.659G>A p.Arg220Lys p.R220K ENST00000379982 NM_014899.3 220 aGa/aAa 0 -RICTOR UCSF GRCh37 5 39003668 39003668 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 23 46 0 ENST00000357387.3:c.252C>T p.Ile84= p.I84= ENST00000357387 NM_152756.3 84 atC/atT 0 -RIF1 UCSF GRCh37 2 152331414 152331414 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 14 34 0 ENST00000243326.5:c.7248C>T p.Asn2416= p.N2416= ENST00000243326 2416 aaC/aaT 0 -RIMBP2 UCSF GRCh37 12 130929794 130929794 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 20 45 0 ENST00000261655.4:c.551C>T p.Pro184Leu p.P184L ENST00000261655 NM_015347.4 184 cCg/cTg 0 -RIOK2 UCSF GRCh37 5 96503335 96503335 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 112 67 109 0 ENST00000283109.3:c.1233C>T p.Asn411= p.N411= ENST00000283109 NM_018343.2 411 aaC/aaT 0 -RLTPR UCSF GRCh37 16 67679506 67679506 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 47 30 0 ENST00000334583.6:c.104G>A p.Gly35Glu p.G35E ENST00000334583 NM_001013838.1 35 gGg/gAg 0 -RMT-ND3 UCSF GRCh37 2 151328193 151328193 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 23 56 0 ENST00000375734.2:c.431G>A p.Ser144Asn p.S144N ENST00000375734 NM_001254738.1 144 aGt/aAt 0 -RNF113B UCSF GRCh37 13 98829236 98829236 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 16 50 14 0 ENST00000267291.6:c.255G>A p.Ala85= p.A85= ENST00000267291 NM_178861.4 85 gcG/gcA 0 -RNF114 UCSF GRCh37 20 48565871 48565871 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 37 46 0 ENST00000244061.2:c.600G>A p.Arg200= p.R200= ENST00000244061 NM_018683.3 200 cgG/cgA 0 -RNF123 UCSF GRCh37 3 49737668 49737668 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 27 18 21 0 ENST00000327697.6:c.993G>A p.Val331= p.V331= ENST00000327697 NM_022064.3 331 gtG/gtA 0 -RNF123 UCSF GRCh37 3 49743495 49743495 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 13 36 0 ENST00000327697.6:c.2385G>A p.Lys795= p.K795= ENST00000327697 NM_022064.3 795 aaG/aaA 0 -RNF13 UCSF GRCh37 3 149677842 149677842 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 22 67 0 ENST00000344229.3:c.701-1G>A p.X234_splice ENST00000344229 NM_007282.4 0 -RNF139 UCSF GRCh37 8 125498715 125498715 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 54 97 0 ENST00000303545.3:c.825C>T p.Asp275= p.D275= ENST00000303545 NM_007218.3 275 gaC/gaT 0 -RNF150 UCSF GRCh37 4 141870520 141870520 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 37 102 0 ENST00000515673.2:c.742C>T p.Leu248= p.L248= ENST00000515673 248 Ctg/Ttg 0 -RNF150 UCSF GRCh37 4 141888968 141888968 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 101 70 113 0 ENST00000515673.2:c.544C>T p.Leu182= p.L182= ENST00000515673 182 Ctg/Ttg 0 -RNF157 UCSF GRCh37 17 74158020 74158020 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 47 69 0 ENST00000269391.6:c.856G>A p.Asp286Asn p.D286N ENST00000269391 NM_052916.2 286 Gac/Aac 0 -RNF17 UCSF GRCh37 13 25428150 25428150 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 41 84 0 ENST00000255324.5:c.3478C>T p.Gln1160Ter p.Q1160* ENST00000255324 NM_031277.2 1160 Cag/Tag 0 -RNF180 UCSF GRCh37 5 63626112 63626112 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 29 52 0 ENST00000389100.4:c.1458G>A p.Leu486= p.L486= ENST00000389100 NM_001113561.1 486 ttG/ttA 0 -RNF2 UCSF GRCh37 1 185069003 185069003 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0015 P05_Rec Untested WXS Illumina HiSeq 88 53 57 0 ENST00000367510.3:c.818G>A p.Arg273Gln p.R273Q ENST00000367510 NM_007212.3 273 cGa/cAa 0 -RNF213 UCSF GRCh37 17 78323679 78323679 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 48 54 0 ENST00000582970.1:c.10061C>T p.Thr3354Ile p.T3354I ENST00000582970 NM_001256071.1 3354 aCc/aTc 0 -RNF213 UCSF GRCh37 17 78293052 78293052 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 138 65 86 0 ENST00000582970.1:c.2964G>A p.Glu988= p.E988= ENST00000582970 NM_001256071.1 988 gaG/gaA 0 -RNF214 UCSF GRCh37 11 117153912 117153912 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 48 20 51 0 ENST00000531452.1:c.2032G>A p.Val678Ile p.V678I ENST00000531452 NM_001077239.1 678 Gta/Ata 0 -RNF220 UCSF GRCh37 1 44877999 44877999 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 226 123 212 0 ENST00000355387.2:c.230G>A p.Gly77Asp p.G77D ENST00000355387 77 gGt/gAt 0 -RNF24 UCSF GRCh37 20 3928926 3928926 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 31 25 0 ENST00000432261.2:c.207G>A p.Arg69= p.R69= ENST00000432261 69 agG/agA 0 -RNF40 UCSF GRCh37 16 30776630 30776630 + synonymous_variant Silent SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 82 50 64 0 ENST00000324685.6:c.900G>C p.Leu300= p.L300= ENST00000324685 NM_014771.3 300 ctG/ctC 0 -RNF5 UCSF GRCh37 6 32148052 32148052 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 161 76 167 0 ENST00000375094.3:c.492C>T p.Ser164= p.S164= ENST00000375094 NM_006913.3 164 tcC/tcT 0 -RNGTT UCSF GRCh37 6 89388107 89388107 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 37 71 0 ENST00000369485.4:c.1471G>A p.Val491Ile p.V491I ENST00000369485 NM_003800.3 491 Gtt/Att 0 -ROS1 UCSF GRCh37 6 117622266 117622266 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 42 82 0 ENST00000368508.3:c.6604C>T p.Pro2202Ser p.P2202S ENST00000368508 NM_002944.2 2202 Ccc/Tcc 0 -RP1 UCSF GRCh37 8 55534714 55534714 + missense_variant Missense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 40 26 44 0 ENST00000220676.1:c.653C>G p.Ala218Gly p.A218G ENST00000220676 NM_006269.1 218 gCt/gGt 0 -RP1L1 UCSF GRCh37 8 10466129 10466129 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 194 108 182 0 ENST00000382483.3:c.5479G>A p.Gly1827Arg p.G1827R ENST00000382483 NM_178857.5 1827 Gga/Aga 0 -RP1L1 UCSF GRCh37 8 10464965 10464965 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 80 109 0 ENST00000382483.3:c.6643C>T p.Pro2215Ser p.P2215S ENST00000382483 NM_178857.5 2215 Ccg/Tcg 0 -RP2 UCSF GRCh37 X 46713289 46713289 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 47 106 0 ENST00000218340.3:c.481G>A p.Asp161Asn p.D161N ENST00000218340 NM_006915.2 161 Gat/Aat 0 -RPIA UCSF GRCh37 2 88991451 88991451 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 9 8 8 0 ENST00000283646.4:c.235G>A p.Glu79Lys p.E79K ENST00000283646 NM_144563.2 79 Gag/Aag 0 -RPL10A UCSF GRCh37 6 35437987 35437987 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 30 92 0 ENST00000322203.6:c.342G>A p.Glu114= p.E114= ENST00000322203 NM_007104.4 114 gaG/gaA 0 -RPL13 UCSF GRCh37 16 89628061 89628061 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 31 34 0 ENST00000393099.3:c.322G>A p.Glu108Lys p.E108K ENST00000393099 NM_033251.2 108 Gag/Aag 0 -RPP21 UCSF GRCh37 6 30314507 30314507 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 150 84 121 0 ENST00000433076.2:c.409C>T p.Pro137Ser p.P137S ENST00000433076 NM_001199121.1 137 Ccc/Tcc 0 -RPS6KC1 UCSF GRCh37 1 213251046 213251046 + synonymous_variant Silent SNP A A T NOVEL P05_Rec Untested WXS Illumina HiSeq 82 29 43 0 ENST00000366960.3:c.150A>T p.Val50= p.V50= ENST00000366960 NM_012424.3 50 gtA/gtT 0 -RPS8 UCSF GRCh37 1 45243785 45243785 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 12 7 14 0 ENST00000396651.3:c.501G>A p.Gln167= p.Q167= ENST00000396651 167 caG/caA 0 -RPTOR UCSF GRCh37 17 78704465 78704465 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 44 6 54 0 ENST00000306801.3:c.613T>C p.Ser205Pro p.S205P ENST00000306801 NM_020761.2 205 Tcc/Ccc 0 -RRAGB UCSF GRCh37 X 55757830 55757830 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 13 14 21 0 ENST00000262850.7:c.411C>T p.Ser137= p.S137= ENST00000262850 NM_016656.3 137 agC/agT 0 -RRN3 UCSF GRCh37 16 15180303 15180303 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 53 120 0 ENST00000198767.6:c.261G>A p.Gln87= p.Q87= ENST00000198767 NM_018427.3 87 caG/caA 0 -RSC1A1 UCSF GRCh37 1 15987061 15987061 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 44 61 0 ENST00000345034.1:c.698G>A p.Ser233Asn p.S233N ENST00000345034 NM_006511.1 233 aGt/aAt 0 -RTEL1 UCSF GRCh37 20 62292654 62292654 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 25 21 0 ENST00000508582.2:c.106G>A p.Val36Met p.V36M ENST00000508582 36 Gtg/Atg 0 -RTN1 UCSF GRCh37 14 60212941 60212941 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 37 108 0 ENST00000267484.5:c.500G>A p.Gly167Glu p.G167E ENST00000267484 NM_021136.2 167 gGa/gAa 0 -RTTN UCSF GRCh37 18 67781767 67781767 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 41 78 0 ENST00000255674.6:c.3597C>T p.Ile1199= p.I1199= ENST00000255674 NM_173630.3 1199 atC/atT 0 -RUNDC3A UCSF GRCh37 17 42390577 42390577 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 41 56 0 ENST00000426726.3:c.329G>A p.Ser110Asn p.S110N ENST00000426726 NM_001144825.1 110 aGc/aAc 0 -RXFP2 UCSF GRCh37 13 32339202 32339202 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 32 41 0 ENST00000298386.2:c.348C>T p.Asp116= p.D116= ENST00000298386 NM_130806.3 116 gaC/gaT 0 -RXRG UCSF GRCh37 1 165398050 165398050 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 40 17 27 0 ENST00000359842.5:c.203C>T p.Ser68Phe p.S68F ENST00000359842 NM_001256570.1 68 tCt/tTt 0 -RYR1 UCSF GRCh37 19 39013693 39013693 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 33 33 0 ENST00000359596.3:c.10285C>T p.Pro3429Ser p.P3429S ENST00000359596 3429 Ccc/Tcc 0 -RYR1 UCSF GRCh37 19 38956832 38956832 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 14 14 0 ENST00000359596.3:c.2972G>A p.Gly991Glu p.G991E ENST00000359596 991 gGg/gAg 0 -RYR1 UCSF GRCh37 19 38968400 38968400 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 12 20 0 ENST00000359596.3:c.4344G>A p.Trp1448Ter p.W1448* ENST00000359596 1448 tgG/tgA 0 -RYR2 UCSF GRCh37 1 237954787 237954787 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 87 49 81 0 ENST00000366574.2:c.13535C>T p.Ala4512Val p.A4512V ENST00000366574 NM_001035.2 4512 gCt/gTt 0 -SAC3D1 UCSF GRCh37 11 64812037 64812037 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 102 38 34 0 ENST00000398846.1:c.915G>A p.Glu305= p.E305= ENST00000398846 NM_013299.3 305 gaG/gaA 0 -SAFB2 UCSF GRCh37 19 5587911 5587911 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 18 8 9 0 ENST00000252542.4:c.2606G>A p.Gly869Asp p.G869D ENST00000252542 NM_014649.2 869 gGc/gAc 0 -SALL1 UCSF GRCh37 16 51174240 51174240 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 149 64 47 0 ENST00000251020.4:c.1893C>T p.Thr631= p.T631= ENST00000251020 NM_002968.2 631 acC/acT 0 -SAMD11 UCSF GRCh37 1 865642 865642 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 12 8 12 0 ENST00000598827.1:c.100C>T p.Pro34Ser p.P34S ENST00000598827 34 Ccc/Tcc 0 -SAMD4A UCSF GRCh37 14 55169174 55169174 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 61 91 0 ENST00000392067.3:c.591G>A p.Gly197= p.G197= ENST00000392067 NM_015589.5 197 ggG/ggA 0 -SAP25 UCSF GRCh37 7 100170545 100170545 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 21 8 9 0 ENST00000538735.1:c.155G>A p.Gly52Asp p.G52D ENST00000538735 NM_001168682.1 52 gGt/gAt 0 -SART1 UCSF GRCh37 11 65743872 65743872 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 25 11 0 ENST00000312397.5:c.1579G>A p.Glu527Lys p.E527K ENST00000312397 NM_005146.4 527 Gag/Aag 0 -SART1 UCSF GRCh37 11 65744536 65744536 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 43 37 18 0 ENST00000312397.5:c.1909G>A p.Gly637Arg p.G637R ENST00000312397 NM_005146.4 637 Ggg/Agg 0 -SATB2 UCSF GRCh37 2 200188589 200188589 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 24 58 0 ENST00000417098.1:c.1479G>A p.Gln493= p.Q493= ENST00000417098 NM_001172509.1 493 caG/caA 0 -SBDS UCSF GRCh37 7 66459269 66459269 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 189 57 109 0 ENST00000246868.2:c.188G>A p.Gly63Asp p.G63D ENST00000246868 NM_016038.2 63 gGt/gAt 0 -SBNO1 UCSF GRCh37 12 123794257 123794257 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 138 45 90 0 ENST00000420886.2:c.3442G>A p.Asp1148Asn p.D1148N ENST00000420886 NM_001167856.1 1148 Gat/Aat 0 -SCAPER UCSF GRCh37 15 76914126 76914126 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 31 45 0 ENST00000563290.1:c.2690C>T p.Ser897Phe p.S897F ENST00000563290 897 tCt/tTt 0 -SCARB1 UCSF GRCh37 12 125267329 125267329 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 25 59 0 ENST00000261693.6:c.1430G>A p.Ser477Asn p.S477N ENST00000261693 NM_005505.4 477 aGt/aAt 0 -SCML2 UCSF GRCh37 X 18264916 18264916 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 88 129 0 ENST00000251900.4:c.1603C>T p.Pro535Ser p.P535S ENST00000251900 NM_006089.2 535 Ccc/Tcc 0 -SCML4 UCSF GRCh37 6 108068037 108068037 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 60 40 0 ENST00000369020.3:c.343G>A p.Val115Met p.V115M ENST00000369020 NM_198081.3 115 Gtg/Atg 0 -SCN11A UCSF GRCh37 3 38936098 38936098 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 157 71 116 0 ENST00000302328.3:c.2761G>A p.Glu921Lys p.E921K ENST00000302328 NM_014139.2 921 Gag/Aag 0 -SCN4A UCSF GRCh37 17 62036654 62036654 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 15 32 0 ENST00000435607.1:c.1990G>A p.Gly664Arg p.G664R ENST00000435607 NM_000334.4 664 Gga/Aga 0 -SCN4A UCSF GRCh37 17 62038634 62038634 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 192 96 110 0 ENST00000435607.1:c.1764C>T p.Ile588= p.I588= ENST00000435607 NM_000334.4 588 atC/atT 0 -SCN7A UCSF GRCh37 2 167289148 167289148 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 130 63 65 0 ENST00000409855.1:c.2272G>A p.Gly758Arg p.G758R ENST00000409855 NM_002976.3 758 Gga/Aga 0 -SCN7A UCSF GRCh37 2 167301309 167301309 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 108 68 121 0 ENST00000409855.1:c.1589G>A p.Ser530Asn p.S530N ENST00000409855 NM_002976.3 530 aGt/aAt 0 -SCN7A UCSF GRCh37 2 167284406 167284406 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 52 67 0 ENST00000409855.1:c.2745G>A p.Lys915= p.K915= ENST00000409855 NM_002976.3 915 aaG/aaA 0 -SCUBE1 UCSF GRCh37 22 43614335 43614335 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 56 67 60 0 ENST00000360835.4:c.1817C>T p.Ala606Val p.A606V ENST00000360835 NM_173050.3 606 gCc/gTc 0 -SCYL1 UCSF GRCh37 11 65304221 65304221 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 110 47 77 0 ENST00000270176.5:c.1816G>A p.Gly606Arg p.G606R ENST00000270176 NM_020680.3 606 Gga/Aga 0 -SDHA UCSF GRCh37 5 224511 224511 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 204 102 187 0 ENST00000264932.6:c.187G>A p.Asp63Asn p.D63N ENST00000264932 NM_004168.2 63 Gat/Aat 0 -SDK1 UCSF GRCh37 7 4273021 4273021 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 19 31 0 ENST00000404826.2:c.5962G>A p.Glu1988Lys p.E1988K ENST00000404826 NM_152744.3 1988 Gag/Aag 0 -SDK2 UCSF GRCh37 17 71434243 71434243 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0085 P05_Rec Untested WXS Illumina HiSeq 21 9 17 0 ENST00000392650.3:c.776C>T p.Ser259Leu p.S259L ENST00000392650 NM_001144952.1 259 tCg/tTg 0 -SEC16B UCSF GRCh37 1 177913769 177913769 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 153 103 171 0 ENST00000308284.6:c.1808C>T p.Ala603Val p.A603V ENST00000308284 NM_033127.2 603 gCa/gTa 0 -SEC23A UCSF GRCh37 14 39532604 39532604 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 20 35 0 ENST00000307712.6:c.1322G>A p.Gly441Asp p.G441D ENST00000307712 NM_006364.2 441 gGt/gAt 0 -SEC24B UCSF GRCh37 4 110434905 110434905 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 36 74 0 ENST00000265175.5:c.1906C>T p.Pro636Ser p.P636S ENST00000265175 NM_006323.2 636 Cct/Tct 0 -SEC31A UCSF GRCh37 4 83772730 83772730 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 22 60 0 ENST00000395310.2:c.2182C>T p.Arg728Ter p.R728* ENST00000395310 NM_001077207.2 728 Cga/Tga 0 -SEL1L UCSF GRCh37 14 81993276 81993276 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 41 79 0 ENST00000336735.4:c.141C>T p.Asp47= p.D47= ENST00000336735 NM_005065.5 47 gaC/gaT 0 -SEL1L2 UCSF GRCh37 20 13869127 13869127 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 24 34 0 ENST00000378072.5:c.581G>A p.Gly194Glu p.G194E ENST00000378072 NM_001271539.1 194 gGa/gAa 0 -SEL1L3 UCSF GRCh37 4 25759371 25759371 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 17 35 0 ENST00000399878.3:c.3125C>T p.Ser1042Phe p.S1042F ENST00000399878 NM_015187.3 1042 tCc/tTc 0 -SELE UCSF GRCh37 1 169697058 169697058 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 119 17 103 0 ENST00000333360.7:c.1290C>T p.Cys430= p.C430= ENST00000333360 NM_000450.2 430 tgC/tgT 0 -SEMA3A UCSF GRCh37 7 83590932 83590932 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 151 62 113 0 ENST00000265362.4:c.2071A>C p.Met691Leu p.M691L ENST00000265362 NM_006080.2 691 Atg/Ctg 0 -SEMA3C UCSF GRCh37 7 80418734 80418734 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 67 50 106 0 ENST00000265361.3:c.1242C>T p.Ile414= p.I414= ENST00000265361 NM_006379.3 414 atC/atT 0 -SEMA3D UCSF GRCh37 7 84751156 84751156 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 27 64 0 ENST00000284136.6:c.52C>T p.Leu18Phe p.L18F ENST00000284136 NM_152754.2 18 Ctt/Ttt 0 -SEMA3F UCSF GRCh37 3 50211247 50211247 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 12 25 0 ENST00000002829.3:c.134C>T p.Ala45Val p.A45V ENST00000002829 NM_004186.3 45 gCc/gTc 0 -SEMA3F UCSF GRCh37 3 50223726 50223726 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 10 13 0 ENST00000002829.3:c.1758G>A p.Arg586= p.R586= ENST00000002829 NM_004186.3 586 cgG/cgA 0 -SEMA3G UCSF GRCh37 3 52474455 52474455 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 13 15 14 0 ENST00000231721.2:c.1081G>A p.Asp361Asn p.D361N ENST00000231721 NM_020163.1 361 Gat/Aat 0 -SEMA4D UCSF GRCh37 9 91996225 91996225 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 20 9 0 ENST00000450295.1:c.1483G>A p.Val495Met p.V495M ENST00000450295 495 Gtg/Atg 0 -SEMG2 UCSF GRCh37 20 43851472 43851472 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 42 88 0 ENST00000372769.3:c.1199G>A p.Gly400Asp p.G400D ENST00000372769 NM_003008.2 400 gGc/gAc 0 -SERPINA4 UCSF GRCh37 14 95033368 95033368 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 26 54 0 ENST00000557004.1:c.711G>A p.Glu237= p.E237= ENST00000557004 237 gaG/gaA 0 -SERPINB11 UCSF GRCh37 18 61377551 61377551 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 93 48 119 0 ENST00000544088.1:c.124G>A p.Val42Ile p.V42I ENST00000544088 NM_080475.2 42 Gtc/Atc 0 -SERPINB2 UCSF GRCh37 18 61558714 61558714 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 27 48 1 ENST00000457692.1:c.36C>T p.Ala12= p.A12= ENST00000457692 NM_001143818.1 12 gcC/gcT 0 -SERPINB6 UCSF GRCh37 6 2948720 2948720 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 50 101 0 ENST00000380520.1:c.943G>A p.Val315Ile p.V315I ENST00000380520 315 Gtc/Atc 0 -SERPINE3 UCSF GRCh37 13 51929249 51929249 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 84 94 0 ENST00000521255.1:c.970C>T p.Pro324Ser p.P324S ENST00000521255 NM_001101320.1 324 Cca/Tca 0 -SETD1A UCSF GRCh37 16 30990750 30990750 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 41 17 17 0 ENST00000262519.8:c.3643G>A p.Ala1215Thr p.A1215T ENST00000262519 NM_014712.1 1215 Gca/Aca 0 -SETD5 UCSF GRCh37 3 9483315 9483315 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.004,1000g2011may_all_0.01369,snp132_rs17050347 P05_Rec Untested WXS Illumina HiSeq 293 109 148 0 ENST00000402198.1:c.849G>A p.Arg283= p.R283= ENST00000402198 NM_001080517.1 283 cgG/cgA 0 -SETX UCSF GRCh37 9 135221755 135221755 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 24 54 0 ENST00000224140.5:c.281G>A p.Gly94Glu p.G94E ENST00000224140 NM_015046.5 94 gGa/gAa 0 -SEZ6L2 UCSF GRCh37 16 29900010 29900010 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 24 13 13 0 ENST00000308713.5:c.890C>T p.Ala297Val p.A297V ENST00000308713 NM_001114099.2 297 gCc/gTc 0 -SF3A3 UCSF GRCh37 1 38447484 38447484 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 45 71 0 ENST00000373019.4:c.469-1G>A p.X157_splice ENST00000373019 NM_006802.2 0 -SF3B3 UCSF GRCh37 16 70588362 70588362 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 160 48 108 0 ENST00000302516.5:c.1416C>T p.Ala472= p.A472= ENST00000302516 NM_012426.4 472 gcC/gcT 0 -SFI1 UCSF GRCh37 22 32011115 32011115 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 7 10 0 ENST00000400288.2:c.3150C>T p.Ala1050= p.A1050= ENST00000400288 NM_001007467.2 1050 gcC/gcT 0 -SFMBT1 UCSF GRCh37 3 52941713 52941713 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 31 59 0 ENST00000394752.3:c.1943G>A p.Gly648Glu p.G648E ENST00000394752 NM_016329.3 648 gGg/gAg 0 -SGK2 UCSF GRCh37 20 42203554 42203554 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 20 12 29 0 ENST00000341458.4:c.783G>A p.Leu261= p.L261= ENST00000341458 NM_016276.3 261 ttG/ttA 0 -SGSH UCSF GRCh37 17 78185869 78185869 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 25 18 0 ENST00000326317.6:c.949+1G>A p.X317_splice ENST00000326317 NM_000199.3 0 -SH3BP2 UCSF GRCh37 4 2831619 2831619 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 58 40 0 ENST00000503393.2:c.1157G>A p.Arg386Lys p.R386K ENST00000503393 NM_001145856.1 386 aGa/aAa 0 -SH3D21 UCSF GRCh37 1 36785572 36785572 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 39 83 0 ENST00000453908.2:c.1308G>A p.Glu436= p.E436= ENST00000453908 NM_001162530.1 436 gaG/gaA 0 -SHISA6 UCSF GRCh37 17 11145222 11145222 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 102 18 38 0 ENST00000441885.3:c.483G>A p.Pro161= p.P161= ENST00000441885 NM_207386.3 161 ccG/ccA 0 -SHISA9 UCSF GRCh37 16 13002407 13002407 + intron_variant Intron SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 30 79 0 ENST00000424107.3:c.563+5923G>A *188* ENST00000424107 0 -SHROOM3 UCSF GRCh37 4 77357299 77357299 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 96 56 114 0 ENST00000296043.6:c.94C>T p.Leu32= p.L32= ENST00000296043 NM_020859.3 32 Ctg/Ttg 0 -SHROOM3 UCSF GRCh37 4 77676169 77676169 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 38 61 0 ENST00000296043.6:c.4533G>A p.Arg1511= p.R1511= ENST00000296043 NM_020859.3 1511 agG/agA 0 -SIAH3 UCSF GRCh37 13 46357545 46357545 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 32 31 35 0 ENST00000400405.2:c.783G>A p.Glu261= p.E261= ENST00000400405 NM_198849.2 261 gaG/gaA 0 -SIDT2 UCSF GRCh37 11 117052778 117052778 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 11 32 0 ENST00000324225.4:c.473C>T p.Thr158Ile p.T158I ENST00000324225 NM_001040455.1 158 aCt/aTt 0 -SIDT2 UCSF GRCh37 11 117063895 117063895 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 233 176 216 0 ENST00000324225.4:c.2132C>T p.Pro711Leu p.P711L ENST00000324225 NM_001040455.1 711 cCc/cTc 0 -SIGLEC1 UCSF GRCh37 20 3673728 3673728 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 18 11 0 ENST00000344754.4:c.3559C>T p.Gln1187Ter p.Q1187* ENST00000344754 NM_023068.3 1187 Cag/Tag 0 -SIGLEC5 UCSF GRCh37 19 52132855 52132855 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 5 12 0 ENST00000429354.3:c.456G>A p.Glu152= p.E152= ENST00000429354 152 gaG/gaA 0 -SIK1 UCSF GRCh37 21 44841865 44841865 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 28 48 0 ENST00000270162.6:c.326G>A p.Gly109Glu p.G109E ENST00000270162 NM_173354.3 109 gGa/gAa 0 -SIK3 UCSF GRCh37 11 116746647 116746647 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 52 76 0 ENST00000292055.4:c.1000C>T p.Leu334= p.L334= ENST00000292055 NM_025164.3 334 Ctg/Ttg 0 -SIPA1L3 UCSF GRCh37 19 38579470 38579470 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 43 31 52 0 ENST00000222345.6:c.1644G>A p.Arg548= p.R548= ENST00000222345 NM_015073.1 548 agG/agA 0 -SIRT2 UCSF GRCh37 19 39380548 39380548 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 33 60 0 ENST00000249396.7:c.322G>A p.Glu108Lys p.E108K ENST00000249396 NM_012237.3 108 Gag/Aag 0 -SIRT4 UCSF GRCh37 12 120750410 120750410 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 11 56 0 ENST00000202967.4:c.649G>A p.Val217Ile p.V217I ENST00000202967 NM_012240.2 217 Gtc/Atc 0 -SKAP2 UCSF GRCh37 7 26709795 26709795 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 81 12 35 0 ENST00000345317.2:c.1004G>A p.Gly335Asp p.G335D ENST00000345317 NM_003930.3 335 gGc/gAc 0 -SKIV2L2 UCSF GRCh37 5 54639158 54639158 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 93 33 76 0 ENST00000230640.5:c.782-1G>A p.X261_splice ENST00000230640 NM_015360.4 0 -SLC12A9 UCSF GRCh37 7 100454542 100454542 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 95 25 32 0 ENST00000354161.3:c.501C>T p.Asn167= p.N167= ENST00000354161 NM_020246.3 167 aaC/aaT 0 -SLC15A2 UCSF GRCh37 3 121658311 121658311 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 69 58 75 0 ENST00000489711.1:c.1877C>T p.Ser626Phe p.S626F ENST00000489711 NM_021082.3 626 tCt/tTt 0 -SLC16A14 UCSF GRCh37 2 230910924 230910924 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 31 72 0 ENST00000295190.4:c.918G>A p.Gly306= p.G306= ENST00000295190 NM_152527.4 306 ggG/ggA 0 -SLC18A1 UCSF GRCh37 8 20036854 20036854 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 51 85 0 ENST00000440926.1:c.266C>T p.Thr89Ile p.T89I ENST00000440926 NM_001135691.2 89 aCc/aTc 0 -SLC24A6 UCSF GRCh37 12 113756781 113756781 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 19 31 0 ENST00000552014.1:c.790C>T p.Pro264Ser p.P264S ENST00000552014 264 Cca/Tca 0 -SLC25A19 UCSF GRCh37 17 73279605 73279605 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 8 28 0 ENST00000402418.3:c.358G>A p.Val120Met p.V120M ENST00000402418 120 Gtg/Atg 0 -SLC26A3 UCSF GRCh37 7 107416971 107416971 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 14 64 0 ENST00000340010.5:c.1603G>A p.Val535Met p.V535M ENST00000340010 NM_000111.2 535 Gtg/Atg 0 -SLC26A6 UCSF GRCh37 3 48666082 48666082 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 67 41 68 0 ENST00000395550.2:c.1665G>A p.Glu555= p.E555= ENST00000395550 555 gaG/gaA 0 -SLC26A9 UCSF GRCh37 1 205889351 205889351 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 21 47 0 ENST00000367134.2:c.2063C>T p.Ser688Phe p.S688F ENST00000367134 NM_134325.2 688 tCc/tTc 0 -SLC27A4 UCSF GRCh37 9 131107546 131107546 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 128 32 22 0 ENST00000300456.4:c.274G>A p.Ala92Thr p.A92T ENST00000300456 NM_005094.3 92 Gcc/Acc 0 -SLC28A3 UCSF GRCh37 9 86912910 86912910 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 62 123 0 ENST00000376238.4:c.694G>A p.Gly232Arg p.G232R ENST00000376238 NM_001199633.1 232 Gga/Aga 0 -SLC2A2 UCSF GRCh37 3 170716107 170716107 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 22 65 0 ENST00000314251.3:c.1249C>T p.Pro417Ser p.P417S ENST00000314251 NM_001278659.1 417 Ccg/Tcg 0 -SLC2A5 UCSF GRCh37 1 9098964 9098964 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 5 19 0 ENST00000377424.4:c.1021C>T p.Arg341Trp p.R341W ENST00000377424 NM_003039.2 341 Cgg/Tgg 0 -SLC30A8 UCSF GRCh37 8 118165280 118165280 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 28 37 0 ENST00000456015.2:c.369G>A p.Leu123= p.L123= ENST00000456015 NM_173851.2 123 ttG/ttA 0 -SLC33A1 UCSF GRCh37 3 155571041 155571041 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 20 21 0 ENST00000392845.3:c.746C>T p.Pro249Leu p.P249L ENST00000392845 249 cCt/cTt 0 -SLC35B2 UCSF GRCh37 6 44222530 44222530 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 37 52 0 ENST00000393812.3:c.1212C>T p.Ala404= p.A404= ENST00000393812 NM_178148.2 404 gcC/gcT 0 -SLC35F5 UCSF GRCh37 2 114493359 114493359 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 17 13 0 ENST00000245680.2:c.827C>T p.Thr276Ile p.T276I ENST00000245680 NM_025181.2 276 aCt/aTt 0 -SLC35G6 UCSF GRCh37 17 7385318 7385318 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 37 24 0 ENST00000412468.2:c.15C>T p.His5= p.H5= ENST00000412468 NM_001102614.1 5 caC/caT 0 -SLC38A3 UCSF GRCh37 3 50255394 50255394 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 57 91 0 ENST00000420502.1:n.1054C>T *352* ENST00000420502 0 -SLC38A8 UCSF GRCh37 16 84050245 84050245 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 105 44 33 0 ENST00000299709.3:c.1041G>A p.Arg347= p.R347= ENST00000299709 NM_001080442.1 347 cgG/cgA 0 -SLC39A2 UCSF GRCh37 14 21467698 21467698 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 101 37 118 0 ENST00000298681.4:c.93G>A p.Trp31Ter p.W31* ENST00000298681 NM_014579.3 31 tgG/tgA 0 -SLC41A2 UCSF GRCh37 12 105260296 105260296 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 33 60 0 ENST00000258538.3:c.1089G>A p.Trp363Ter p.W363* ENST00000258538 NM_032148.3 363 tgG/tgA 0 -SLC4A10 UCSF GRCh37 2 162807267 162807267 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 40 40 0 ENST00000446997.1:c.2450C>T p.Ala817Val p.A817V ENST00000446997 NM_001178015.1 817 gCt/gTt 0 -SLC4A2 UCSF GRCh37 7 150762019 150762019 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 33 32 0 ENST00000485713.1:c.544G>A p.Ala182Thr p.A182T ENST00000485713 NM_001199692.1 182 Gcg/Acg 0 -SLC4A2 UCSF GRCh37 7 150768682 150768682 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 21 21 0 ENST00000485713.1:c.2181G>A p.Gly727= p.G727= ENST00000485713 NM_001199692.1 727 ggG/ggA 0 -SLC4A3 UCSF GRCh37 2 220500543 220500543 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 9 12 9 0 ENST00000373762.3:c.2202G>A p.Gln734= p.Q734= ENST00000373762 NM_005070.3 734 caG/caA 0 -SLC4A7 UCSF GRCh37 3 27424686 27424686 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 101 30 53 0 ENST00000295736.5:c.3521G>A p.Gly1174Glu p.G1174E ENST00000295736 NM_003615.4 1174 gGg/gAg 0 -SLC4A7 UCSF GRCh37 3 27453176 27453176 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 19 28 0 ENST00000295736.5:c.1696G>A p.Glu566Lys p.E566K ENST00000295736 NM_003615.4 566 Gag/Aag 0 -SLC5A3 UCSF GRCh37 21 35468772 35468772 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 44 64 0 ENST00000381151.3:c.1275G>A p.Trp425Ter p.W425* ENST00000381151 425 tgG/tgA 0 -SLC5A5 UCSF GRCh37 19 17986865 17986865 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 28 42 0 ENST00000222248.3:c.648C>T p.Pro216= p.P216= ENST00000222248 NM_000453.2 216 ccC/ccT 0 -SLC5A6 UCSF GRCh37 2 27426165 27426165 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 31 62 0 ENST00000310574.3:c.1143C>T p.Asp381= p.D381= ENST00000310574 NM_021095.2 381 gaC/gaT 0 -SLC5A9 UCSF GRCh37 1 48703449 48703449 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 43 22 45 0 ENST00000236495.5:c.1466C>T p.Thr489Ile p.T489I ENST00000236495 NM_001135181.1 489 aCc/aTc 0 -SLC6A14 UCSF GRCh37 X 115577980 115577980 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 93 54 39 0 ENST00000371900.4:c.863G>A p.Gly288Asp p.G288D ENST00000371900 NM_007231.3 288 gGt/gAt 0 -SLC6A16 UCSF GRCh37 19 49812602 49812602 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 13 51 0 ENST00000335875.4:c.943C>T p.Leu315= p.L315= ENST00000335875 NM_014037.2 315 Ctg/Ttg 0 -SLC6A18 UCSF GRCh37 5 1225747 1225747 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 33 40 0 ENST00000324642.3:c.155G>A p.Gly52Glu p.G52E ENST00000324642 NM_182632.2 52 gGa/gAa 0 -SLC6A20 UCSF GRCh37 3 45817423 45817423 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 76 53 62 0 ENST00000358525.4:c.412G>A p.Glu138Lys p.E138K ENST00000358525 NM_020208.3 138 Gag/Aag 0 -SLC7A6 UCSF GRCh37 16 68325475 68325475 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 136 56 89 0 ENST00000566454.1:c.933G>A p.Gln311= p.Q311= ENST00000566454 NM_001076785.2 311 caG/caA 0 -SLC8A2 UCSF GRCh37 19 47935511 47935511 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 77 49 54 0 ENST00000236877.6:c.2302G>A p.Asp768Asn p.D768N ENST00000236877 NM_015063.2 768 Gac/Aac 0 -SLC9A3 UCSF GRCh37 5 476142 476142 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 21 11 8 0 ENST00000264938.3:c.2133G>A p.Lys711= p.K711= ENST00000264938 NM_004174.2 711 aaG/aaA 0 -SLC9A5 UCSF GRCh37 16 67289019 67289019 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 98 46 56 0 ENST00000299798.11:c.586G>A p.Val196Met p.V196M ENST00000299798 NM_004594.2 196 Gtg/Atg 0 -SLC9A8 UCSF GRCh37 20 48503313 48503313 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 51 25 0 ENST00000417961.1:c.1564C>T p.Leu522= p.L522= ENST00000417961 NM_015266.2 522 Ctg/Ttg 0 -SLFN12L UCSF GRCh37 17 33802212 33802212 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 214 122 259 0 ENST00000260908.7:c.1497G>A p.Lys499= p.K499= ENST00000260908 NM_001195790.1 499 aaG/aaA 0 -SMAD4 UCSF GRCh37 18 48573634 48573634 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 101 57 88 0 ENST00000342988.3:c.218C>T p.Thr73Ile p.T73I ENST00000342988 NM_005359.5 73 aCc/aTc 0 -SMAD6 UCSF GRCh37 15 67073393 67073393 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 11 10 0 ENST00000288840.5:c.1011G>A p.Trp337Ter p.W337* ENST00000288840 NM_005585.4 337 tgG/tgA 0 -SMAD7 UCSF GRCh37 18 46448254 46448254 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 45 25 64 0 ENST00000262158.2:c.769G>A p.Asp257Asn p.D257N ENST00000262158 NM_001190821.1 257 Gat/Aat 0 -SMAP2 UCSF GRCh37 1 40872408 40872408 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 47 88 0 ENST00000372718.3:c.104G>A p.Gly35Glu p.G35E ENST00000372718 NM_022733.2 35 gGg/gAg 0 -SMARCA4 UCSF GRCh37 19 11144135 11144135 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 120 85 31 0 ENST00000344626.4:c.3716C>T p.Ser1239Phe p.S1239F ENST00000344626 NM_003072.3 1239 tCc/tTc 0 -SMARCB1 UCSF GRCh37 22 24167504 24167504 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 38 58 0 ENST00000263121.7:c.888G>A p.Lys296= p.K296= ENST00000263121 NM_003073.3 296 aaG/aaA 0 -SMCR8 UCSF GRCh37 17 18220997 18220997 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 56 77 0 ENST00000406438.3:c.1894G>A p.Val632Met p.V632M ENST00000406438 NM_144775.2 632 Gtg/Atg 0 -SMG6 UCSF GRCh37 17 1972222 1972222 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 37 15 21 0 ENST00000263073.6:c.3685G>A p.Val1229Ile p.V1229I ENST00000263073 NM_017575.4 1229 Gtc/Atc 0 -SNAPC4 UCSF GRCh37 9 139292825 139292825 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 235 73 92 0 ENST00000298532.2:c.56G>A p.Arg19Lys p.R19K ENST00000298532 NM_003086.2 19 aGg/aAg 0 -SNAPC4 UCSF GRCh37 9 139282275 139282275 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 94 34 42 0 ENST00000298532.2:c.1149C>T p.Asp383= p.D383= ENST00000298532 NM_003086.2 383 gaC/gaT 0 -SNRNP200 UCSF GRCh37 2 96953181 96953181 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 93 53 84 0 ENST00000323853.5:c.3480G>A p.Glu1160= p.E1160= ENST00000323853 NM_014014.4 1160 gaG/gaA 0 -SNX13 UCSF GRCh37 7 17930075 17930075 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 86 64 72 0 ENST00000428135.3:c.351G>A p.Gln117= p.Q117= ENST00000428135 NM_015132.4 117 caG/caA 0 -SOCS2 UCSF GRCh37 12 93968767 93968767 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 38 93 0 ENST00000340600.2:c.409C>T p.Arg137Trp p.R137W ENST00000340600 NM_003877.4 137 Cgg/Tgg 0 -SORT1 UCSF GRCh37 1 109857328 109857328 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 29 20 0 ENST00000256637.6:c.2323G>A p.Val775Met p.V775M ENST00000256637 NM_002959.5 775 Gtg/Atg 0 -SOX11 UCSF GRCh37 2 5833235 5833235 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 13 21 8 0 ENST00000322002.3:c.382C>T p.Pro128Ser p.P128S ENST00000322002 NM_003108.3 128 Ccc/Tcc 0 -SP110 UCSF GRCh37 2 231042370 231042370 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 84 191 0 ENST00000258381.6:c.1474G>A p.Glu492Lys p.E492K ENST00000258381 NM_080424.2 492 Gag/Aag 0 -SPAG1 UCSF GRCh37 8 101251583 101251583 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 105 64 103 0 ENST00000388798.2:c.2231C>T p.Thr744Ile p.T744I ENST00000388798 NM_003114.4 744 aCa/aTa 0 -SPDYE3 UCSF GRCh37 7 99917195 99917195 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 288 130 256 0 ENST00000332397.6:c.1354G>A p.Ala452Thr p.A452T ENST00000332397 NM_001004351.4 452 Gcc/Acc 0 -SPHKAP UCSF GRCh37 2 228883799 228883799 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 34 45 0 ENST00000392056.3:c.1771C>T p.Pro591Ser p.P591S ENST00000392056 NM_001142644.1 591 Cct/Tct 0 -SPIN1 UCSF GRCh37 9 91083400 91083400 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 62 87 0 ENST00000375859.3:c.469G>A p.Ala157Thr p.A157T ENST00000375859 NM_006717.2 157 Gca/Aca 0 -SPINT1 UCSF GRCh37 15 41136919 41136919 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 12 9 0 ENST00000344051.4:c.167C>T p.Ala56Val p.A56V ENST00000344051 56 gCc/gTc 0 -SPOP UCSF GRCh37 17 47700133 47700133 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 71 39 87 0 ENST00000347630.2:c.40T>G p.Ser14Ala p.S14A ENST00000347630 NM_001007230.1 14 Tcg/Gcg 0 -SPR UCSF GRCh37 2 73118536 73118536 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 15 40 0 ENST00000234454.5:c.656G>A p.Arg219Gln p.R219Q ENST00000234454 NM_003124.4 219 cGa/cAa 0 -SPRR2D UCSF GRCh37 1 153012683 153012683 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 82 61 121 0 ENST00000368757.1:c.140C>T p.Pro47Leu p.P47L ENST00000368757 47 cCt/cTt 0 -SPTA1 UCSF GRCh37 1 158644362 158644362 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 158 103 91 0 ENST00000368147.4:c.1216G>A p.Glu406Lys p.E406K ENST00000368147 NM_003126.2 406 Gaa/Aaa 0 -SRCAP UCSF GRCh37 16 30735216 30735216 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 84 54 84 0 ENST00000262518.4:c.4471C>T p.Pro1491Ser p.P1491S ENST00000262518 NM_006662.2 1491 Ccc/Tcc 0 -SRD5A3 UCSF GRCh37 4 56230317 56230317 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 121 71 113 0 ENST00000264228.4:c.441C>T p.Cys147= p.C147= ENST00000264228 NM_024592.4 147 tgC/tgT 0 -SREBF2 UCSF GRCh37 22 42298982 42298982 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 8 9 8 0 ENST00000361204.4:c.2916G>A p.Gln972= p.Q972= ENST00000361204 NM_004599.3 972 caG/caA 0 -SRGAP1 UCSF GRCh37 12 64536317 64536317 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 89 52 124 0 ENST00000355086.3:c.3123G>A p.Met1041Ile p.M1041I ENST00000355086 NM_020762.2 1041 atG/atA 0 -SRGAP3 UCSF GRCh37 3 9057317 9057317 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 115 21 60 0 ENST00000383836.3:c.1777C>T p.Pro593Ser p.P593S ENST00000383836 NM_014850.3 593 Cct/Tct 0 -SRL UCSF GRCh37 16 4247874 4247874 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 50 11 43 0 ENST00000399609.3:c.302C>T p.Pro101Leu p.P101L ENST00000399609 NM_001098814.1 101 cCg/cTg 0 -SRM UCSF GRCh37 1 11118930 11118930 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 14 6 8 0 ENST00000376957.2:c.308G>A p.Gly103Glu p.G103E ENST00000376957 NM_003132.2 103 gGa/gAa 0 -SRRD UCSF GRCh37 22 26882013 26882013 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 40 49 0 ENST00000215917.7:c.234C>T p.Phe78= p.F78= ENST00000215917 NM_001013694.2 78 ttC/ttT 0 -SRRM2 UCSF GRCh37 16 2811898 2811898 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 203 114 126 0 ENST00000301740.8:c.1369C>T p.Pro457Ser p.P457S ENST00000301740 NM_016333.3 457 Ccc/Tcc 0 -SRRM2 UCSF GRCh37 16 2809654 2809654 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 37 29 72 0 ENST00000301740.8:c.825C>T p.Ser275= p.S275= ENST00000301740 NM_016333.3 275 tcC/tcT 0 -SRSF12 UCSF GRCh37 6 89808575 89808575 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 193 135 247 0 ENST00000452027.2:c.508C>T p.Pro170Ser p.P170S ENST00000452027 NM_080743.4 170 Cca/Tca 0 -SRSF9 UCSF GRCh37 12 120899861 120899861 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 83 42 34 0 ENST00000229390.3:c.627G>A p.Arg209= p.R209= ENST00000229390 NM_003769.2 209 agG/agA 0 -SS18L1 UCSF GRCh37 20 60737983 60737983 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 15 15 0 ENST00000331758.3:c.552C>T p.Asn184= p.N184= ENST00000331758 NM_198935.1 184 aaC/aaT 0 -SSC5D UCSF GRCh37 19 56029025 56029025 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 47 74 130 0 ENST00000389623.6:c.3382G>A p.Asp1128Asn p.D1128N ENST00000389623 NM_001144950.1 1128 Gac/Aac 0 -SSPO UCSF GRCh37 7 149528267 149528267 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 16 7 15 0 ENST00000378016.2:n.15186C>T *5062* ENST00000378016 0 -ST6GAL2 UCSF GRCh37 2 107423348 107423348 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 17 33 0 ENST00000409382.3:c.1376C>T p.Ser459Phe p.S459F ENST00000409382 NM_001142351.1 459 tCc/tTc 0 -ST6GALNAC1 UCSF GRCh37 17 74621610 74621610 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 13 31 0 ENST00000156626.7:c.1606-1G>A p.X536_splice ENST00000156626 NM_018414.3 0 -ST6GALNAC5 UCSF GRCh37 1 77510220 77510220 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 242 124 100 0 ENST00000477717.1:c.593G>A p.Arg198Gln p.R198Q ENST00000477717 NM_030965.1 198 cGg/cAg 0 -STAC3 UCSF GRCh37 12 57643386 57643386 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 27 27 0 ENST00000332782.2:c.34C>T p.Pro12Ser p.P12S ENST00000332782 NM_145064.1 12 Ccc/Tcc 0 -STAG3 UCSF GRCh37 7 99798542 99798542 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 27 50 0 ENST00000426455.1:c.2011G>A p.Val671Ile p.V671I ENST00000426455 NM_001282716.1 671 Gta/Ata 0 -STEAP3 UCSF GRCh37 2 120003184 120003184 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 27 41 0 ENST00000393110.2:c.142G>A p.Asp48Asn p.D48N ENST00000393110 48 Gac/Aac 0 -STK17A UCSF GRCh37 7 43647960 43647960 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 106 40 76 0 ENST00000319357.5:c.525C>T p.His175= p.H175= ENST00000319357 NM_004760.2 175 caC/caT 0 -STK17B UCSF GRCh37 2 197002250 197002250 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 44 87 0 ENST00000263955.4:c.1040G>A p.Ser347Asn p.S347N ENST00000263955 NM_004226.3 347 aGc/aAc 0 -STK36 UCSF GRCh37 2 219563972 219563972 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 67 44 53 0 ENST00000295709.3:c.3705G>A p.Gln1235= p.Q1235= ENST00000295709 NM_015690.4 1235 caG/caA 0 -STON2 UCSF GRCh37 14 81743681 81743681 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 59 61 0 ENST00000555447.1:c.1974C>T p.Asn658= p.N658= ENST00000555447 NM_001256430.1 658 aaC/aaT 0 -STRAP UCSF GRCh37 12 16048406 16048406 + missense_variant Missense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 68 26 57 0 ENST00000419869.2:c.614C>G p.Ser205Cys p.S205C ENST00000419869 NM_007178.3 205 tCt/tGt 0 -STXBP3 UCSF GRCh37 1 109319021 109319021 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 19 23 0 ENST00000370008.3:c.660G>A p.Lys220= p.K220= ENST00000370008 NM_007269.2 220 aaG/aaA 0 -SUPT5H UCSF GRCh37 19 39960873 39960873 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 81 91 0 ENST00000599117.1:c.1489G>A p.Glu497Lys p.E497K ENST00000599117 497 Gag/Aag 0 -SVEP1 UCSF GRCh37 9 113244691 113244691 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 79 49 70 0 ENST00000401783.2:c.2120C>T p.Thr707Ile p.T707I ENST00000401783 NM_153366.3 707 aCt/aTt 0 -SYMPK UCSF GRCh37 19 46357650 46357650 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 33 33 0 ENST00000245934.7:c.104G>A p.Arg35Lys p.R35K ENST00000245934 NM_004819.2 35 aGg/aAg 0 -SYNE1 UCSF GRCh37 6 152640094 152640094 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 30 49 0 ENST00000367255.5:c.16293C>T p.Ser5431= p.S5431= ENST00000367255 NM_182961.3 5431 agC/agT 0 -SYNE2 UCSF GRCh37 14 64518895 64518895 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 112 41 150 0 ENST00000358025.3:c.8264C>T p.Pro2755Leu p.P2755L ENST00000358025 NM_182914.2 2755 cCc/cTc 0 -SYNE2 UCSF GRCh37 14 64554542 64554542 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 37 72 0 ENST00000358025.3:c.11638G>A p.Glu3880Lys p.E3880K ENST00000358025 NM_182914.2 3880 Gaa/Aaa 0 -SYNE2 UCSF GRCh37 14 64608671 64608671 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 13 44 0 ENST00000358025.3:c.15171G>A p.Glu5057= p.E5057= ENST00000358025 NM_182914.2 5057 gaG/gaA 0 -SYNGR1 UCSF GRCh37 22 39770548 39770548 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 36 40 0 ENST00000328933.5:c.327C>T p.Ile109= p.I109= ENST00000328933 NM_004711.4 109 atC/atT 0 -SYNRG UCSF GRCh37 17 35930949 35930949 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 124 50 131 0 ENST00000339208.6:c.1134C>T p.Asn378= p.N378= ENST00000339208 NM_001163544.1 378 aaC/aaT 0 -SYTL4 UCSF GRCh37 X 99956471 99956471 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 25 42 96 0 ENST00000455616.1:c.309G>A p.Lys103= p.K103= ENST00000455616 103 aaG/aaA 0 -TAAR6 UCSF GRCh37 6 132891711 132891711 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 116 65 127 0 ENST00000275198.1:c.251C>T p.Thr84Ile p.T84I ENST00000275198 NM_175067.1 84 aCt/aTt 0 -TAAR9 UCSF GRCh37 6 132860441 132860441 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 29 17 13 0 ENST00000434551.1:c.1013C>T p.Thr338Ile p.T338I ENST00000434551 NM_175057.3 338 aCt/aTt 0 -TACR3 UCSF GRCh37 4 104510962 104510962 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 104 80 137 0 ENST00000304883.2:c.1275G>A p.Arg425= p.R425= ENST00000304883 NM_001059.2 425 cgG/cgA 0 -TADA1 UCSF GRCh37 1 166831645 166831645 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 32 61 0 ENST00000367874.4:c.335G>A p.Arg112Lys p.R112K ENST00000367874 NM_053053.3 112 aGa/aAa 0 -TAF3 UCSF GRCh37 10 8056708 8056708 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 107 50 65 0 ENST00000344293.5:c.2784C>T p.Ala928= p.A928= ENST00000344293 NM_031923.3 928 gcC/gcT 0 -TAF5L UCSF GRCh37 1 229730455 229730455 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 143 83 66 0 ENST00000258281.2:c.1359G>A p.Trp453Ter p.W453* ENST00000258281 NM_014409.3 453 tgG/tgA 0 -TANC1 UCSF GRCh37 2 160035165 160035165 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 38 62 0 ENST00000263635.6:c.2001G>A p.Arg667= p.R667= ENST00000263635 NM_033394.2 667 agG/agA 0 -TANC2 UCSF GRCh37 17 61489467 61489467 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 46 73 0 ENST00000424789.2:c.3652C>T p.Leu1218Phe p.L1218F ENST00000424789 NM_025185.3 1218 Ctt/Ttt 0 -TAOK3 UCSF GRCh37 12 118619193 118619193 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 45 65 1 ENST00000392533.3:c.1549G>A p.Ala517Thr p.A517T ENST00000392533 NM_016281.3 517 Gct/Act 0 -TAPT1 UCSF GRCh37 4 16177816 16177816 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 89 56 69 0 ENST00000405303.2:c.1033G>A p.Val345Ile p.V345I ENST00000405303 NM_153365.2 345 Gta/Ata 0 -TARBP1 UCSF GRCh37 1 234556505 234556505 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 35 62 0 ENST00000040877.1:c.3498C>T p.His1166= p.H1166= ENST00000040877 NM_005646.3 1166 caC/caT 0 -TAS2R5 UCSF GRCh37 7 141490830 141490830 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 122 60 92 0 ENST00000247883.4:c.669C>T p.Ser223= p.S223= ENST00000247883 NM_018980.2 223 tcC/tcT 0 -TBC1D13 UCSF GRCh37 9 131568554 131568554 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 30 34 0 ENST00000372648.5:c.1101G>A p.Leu367= p.L367= ENST00000372648 NM_018201.3 367 ctG/ctA 0 -TBC1D14 UCSF GRCh37 4 6925123 6925123 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 126 75 91 0 ENST00000409757.4:c.7G>A p.Asp3Asn p.D3N ENST00000409757 NM_020773.2 3 Gat/Aat 0 -TBC1D15 UCSF GRCh37 12 72291654 72291654 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 43 76 0 ENST00000550746.1:c.1167G>A p.Gln389= p.Q389= ENST00000550746 NM_022771.4 389 caG/caA 0 -TBC1D17 UCSF GRCh37 19 50385388 50385388 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 188 96 101 0 ENST00000221543.5:c.618G>A p.Gln206= p.Q206= ENST00000221543 NM_024682.2 206 caG/caA 0 -TBC1D22B UCSF GRCh37 6 37250008 37250008 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 61 33 60 0 ENST00000373491.3:c.469C>T p.Leu157Phe p.L157F ENST00000373491 NM_017772.2 157 Ctc/Ttc 0 -TBC1D24 UCSF GRCh37 16 2546449 2546449 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 37 20 0 ENST00000293970.5:c.300G>A p.Gln100= p.Q100= ENST00000293970 NM_001199107.1 100 caG/caA 0 -TBK1 UCSF GRCh37 12 64879234 64879234 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 12 12 21 0 ENST00000331710.5:c.1190-1G>A p.X397_splice ENST00000331710 NM_013254.3 0 -TBL1X UCSF GRCh37 X 9652205 9652205 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 15 26 59 0 ENST00000217964.7:c.334G>A p.Glu112Lys p.E112K ENST00000217964 NM_005647.3 112 Gag/Aag 0 -TBL1XR1 UCSF GRCh37 3 176752054 176752054 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 50 45 59 0 ENST00000430069.1:c.1182T>G p.Ile394Met p.I394M ENST00000430069 394 atT/atG 0 -TBX6 UCSF GRCh37 16 30097950 30097950 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 10 16 0 ENST00000395224.2:c.980C>T p.Ala327Val p.A327V ENST00000395224 NM_004608.3 327 gCc/gTc 0 -TCF4 UCSF GRCh37 18 52924585 52924585 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 67 44 77 0 ENST00000398339.1:c.1413C>T p.Ala471= p.A471= ENST00000398339 NM_001243226.1 471 gcC/gcT 0 -TCHH UCSF GRCh37 1 152080381 152080381 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 118 60 87 0 ENST00000368804.1:c.5312G>A p.Arg1771Lys p.R1771K ENST00000368804 NM_007113.3 1771 aGa/aAa 0 -TCHH UCSF GRCh37 1 152083503 152083503 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 195 128 83 0 ENST00000368804.1:c.2190G>A p.Arg730= p.R730= ENST00000368804 NM_007113.3 730 agG/agA 0 -TCP1 UCSF GRCh37 6 160200142 160200142 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 46 88 0 ENST00000321394.7:c.1606G>A p.Glu536Lys p.E536K ENST00000321394 NM_030752.2 536 Gaa/Aaa 0 -TCP11 UCSF GRCh37 6 35090045 35090045 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 40 91 0 ENST00000311875.5:c.466G>A p.Asp156Asn p.D156N ENST00000311875 156 Gac/Aac 0 -TCP11L2 UCSF GRCh37 12 106715328 106715328 + missense_variant Missense_Mutation SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 63 25 58 0 ENST00000299045.3:c.479A>C p.Asp160Ala p.D160A ENST00000299045 NM_152772.1 160 gAc/gCc 0 -TDRD10 UCSF GRCh37 1 154515281 154515281 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 19 26 0 ENST00000368480.3:c.487G>A p.Val163Ile p.V163I ENST00000368480 163 Gtc/Atc 0 -TDRD9 UCSF GRCh37 14 104441851 104441851 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 75 62 120 0 ENST00000409874.4:c.972G>A p.Glu324= p.E324= ENST00000409874 NM_153046.2 324 gaG/gaA 0 -TEAD4 UCSF GRCh37 12 3129818 3129818 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 57 20 19 0 ENST00000359864.2:c.602G>A p.Gly201Glu p.G201E ENST00000359864 NM_003213.3 201 gGg/gAg 0 -TECPR1 UCSF GRCh37 7 97867907 97867907 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 39 79 0 ENST00000447648.2:c.949G>A p.Gly317Ser p.G317S ENST00000447648 NM_015395.2 317 Ggc/Agc 0 -TENC1 UCSF GRCh37 12 53453496 53453496 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 57 34 16 0 ENST00000314276.3:c.2101C>T p.Pro701Ser p.P701S ENST00000314276 NM_015319.2 701 Cca/Tca 0 -TEP1 UCSF GRCh37 14 20852280 20852280 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 52 23 35 0 ENST00000262715.5:c.3451G>A p.Asp1151Asn p.D1151N ENST00000262715 NM_007110.4 1151 Gac/Aac 0 -TERF2 UCSF GRCh37 16 69419376 69419376 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 141 57 56 0 ENST00000603068.1:c.267G>A p.Arg89= p.R89= ENST00000603068 89 agG/agA 0 -TET2 UCSF GRCh37 4 106158049 106158049 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 69 43 94 0 ENST00000380013.4:c.2950G>A p.Glu984Lys p.E984K ENST00000380013 NM_001127208.2 984 Gaa/Aaa 0 -TEX11 UCSF GRCh37 X 69830352 69830352 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 62 99 0 ENST00000395889.2:c.1837+1G>A p.X613_splice ENST00000395889 NM_001003811.1 0 -TEX15 UCSF GRCh37 8 30706062 30706062 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 24 96 0 ENST00000256246.2:c.472C>T p.Pro158Ser p.P158S ENST00000256246 NM_031271.3 158 Cca/Tca 0 -TFAP2E UCSF GRCh37 1 36056336 36056336 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 23 8 13 0 ENST00000373235.3:c.1006G>A p.Gly336Arg p.G336R ENST00000373235 NM_178548.3 336 Ggg/Agg 0 -TFB2M UCSF GRCh37 1 246711846 246711846 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 37 24 44 0 ENST00000366514.4:c.858+1G>A p.X286_splice ENST00000366514 NM_022366.2 0 -TGM2 UCSF GRCh37 20 36770591 36770591 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 26 52 0 ENST00000361475.2:c.870C>T p.Cys290= p.C290= ENST00000361475 NM_004613.2 290 tgC/tgT 0 -TGM7 UCSF GRCh37 15 43571977 43571977 + synonymous_variant Silent SNP C C A NOVEL P05_Rec Untested WXS Illumina HiSeq 169 24 57 1 ENST00000452443.2:c.1524G>T p.Leu508= p.L508= ENST00000452443 NM_052955.2 508 ctG/ctT 0 -TH1L UCSF GRCh37 20 57568578 57568578 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 27 60 0 ENST00000602795.1:c.1473C>T p.Ser491= p.S491= ENST00000602795 NM_198976.2 491 tcC/tcT 0 -THBS1 UCSF GRCh37 15 39880853 39880853 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 15 22 29 0 ENST00000260356.5:c.1598G>A p.Gly533Asp p.G533D ENST00000260356 NM_003246.2 533 gGt/gAt 0 -THNSL1 UCSF GRCh37 10 25313108 25313108 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 67 34 47 0 ENST00000524413.1:c.956G>A p.Gly319Glu p.G319E ENST00000524413 319 gGg/gAg 0 -THRAP3 UCSF GRCh37 1 36757032 36757032 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 35 37 60 0 ENST00000354618.5:c.1803C>T p.Asn601= p.N601= ENST00000354618 NM_005119.3 601 aaC/aaT 0 -THRSP UCSF GRCh37 11 77775109 77775109 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 59 39 55 0 ENST00000281030.2:c.182C>T p.Thr61Ile p.T61I ENST00000281030 NM_003251.3 61 aCc/aTc 0 -THSD1 UCSF GRCh37 13 52952735 52952735 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 27 47 42 0 ENST00000258613.4:c.1370C>T p.Pro457Leu p.P457L ENST00000258613 NM_018676.3 457 cCc/cTc 0 -THSD1 UCSF GRCh37 13 52952267 52952267 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 62 27 70 0 ENST00000258613.4:c.1838A>C p.Gln613Pro p.Q613P ENST00000258613 NM_018676.3 613 cAg/cCg 0 -TIMELESS UCSF GRCh37 12 56818588 56818588 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 48 25 49 0 ENST00000553532.1:c.1826C>T p.Ala609Val p.A609V ENST00000553532 609 gCt/gTt 0 -TIMELESS UCSF GRCh37 12 56815272 56815272 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 100 37 91 0 ENST00000553532.1:c.2731C>T p.Leu911= p.L911= ENST00000553532 911 Ctg/Ttg 0 -TJP2 UCSF GRCh37 9 71827508 71827508 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 44 18 66 0 ENST00000539225.1:c.198C>T p.Thr66= p.T66= ENST00000539225 NM_001170416.1 66 acC/acT 0 -TLK1 UCSF GRCh37 2 171917607 171917607 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 30 32 0 ENST00000431350.2:c.390G>A p.Gln130= p.Q130= ENST00000431350 130 caG/caA 0 -TLL2 UCSF GRCh37 10 98133449 98133449 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 15 36 50 0 ENST00000357947.3:c.2566C>T p.Pro856Ser p.P856S ENST00000357947 NM_012465.3 856 Cca/Tca 0 -TLR9 UCSF GRCh37 3 52257979 52257979 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 50 57 0 ENST00000360658.2:c.353C>T p.Thr118Ile p.T118I ENST00000360658 NM_017442.3 118 aCc/aTc 0 -TM7SF2 UCSF GRCh37 11 64880745 64880745 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 76 32 14 0 ENST00000279263.7:c.358G>A p.Gly120Arg p.G120R ENST00000279263 NM_003273.3 120 Ggg/Agg 0 -TMC3 UCSF GRCh37 15 81627077 81627077 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 35 67 0 ENST00000359440.5:c.2443G>A p.Glu815Lys p.E815K ENST00000359440 NM_001080532.1 815 Gag/Aag 0 -TMCO7 UCSF GRCh37 16 69056828 69056828 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 89 33 55 0 ENST00000261778.1:c.2940C>T p.Asn980= p.N980= ENST00000261778 NM_024562.1 980 aaC/aaT 0 -TMED10 UCSF GRCh37 14 75614367 75614367 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 105 32 54 0 ENST00000303575.4:c.411G>A p.Glu137= p.E137= ENST00000303575 NM_006827.5 137 gaG/gaA 0 -TMEM102 UCSF GRCh37 17 7340310 7340310 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 27 20 8 0 ENST00000323206.1:c.1012G>A p.Gly338Ser p.G338S ENST00000323206 NM_178518.2 338 Ggt/Agt 0 -TMEM130 UCSF GRCh37 7 98457806 98457806 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 29 12 24 0 ENST00000416379.2:c.547G>A p.Asp183Asn p.D183N ENST00000416379 183 Gac/Aac 0 -TMEM132D UCSF GRCh37 12 129559485 129559485 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 87 43 57 0 ENST00000422113.2:c.2235C>T p.Ile745= p.I745= ENST00000422113 NM_133448.2 745 atC/atT 0 -TMEM154 UCSF GRCh37 4 153573939 153573939 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 36 75 0 ENST00000304385.3:c.205C>T p.Pro69Ser p.P69S ENST00000304385 NM_152680.2 69 Ccg/Tcg 0 -TMEM168 UCSF GRCh37 7 112424274 112424274 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 109 35 76 0 ENST00000312814.6:c.607C>T p.Pro203Ser p.P203S ENST00000312814 NM_001287497.1 203 Cca/Tca 0 -TMEM47 UCSF GRCh37 X 34657367 34657367 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 5 10 26 0 ENST00000275954.3:c.364G>A p.Ala122Thr p.A122T ENST00000275954 NM_031442.3 122 Gca/Aca 0 -TMEM48 UCSF GRCh37 1 54262697 54262697 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 66 36 66 0 ENST00000371429.3:c.1343G>A p.Gly448Glu p.G448E ENST00000371429 NM_001168551.1 448 gGg/gAg 0 -TMEM5 UCSF GRCh37 12 64202714 64202714 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 24 79 0 ENST00000261234.6:c.1174C>T p.Leu392Phe p.L392F ENST00000261234 NM_014254.2 392 Ctc/Ttc 0 -TMEM63A UCSF GRCh37 1 226062017 226062017 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 35 37 0 ENST00000366835.3:c.237C>T p.Gly79= p.G79= ENST00000366835 NM_014698.2 79 ggC/ggT 0 -TMEM63C UCSF GRCh37 14 77706066 77706066 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 23 10 10 0 ENST00000298351.4:c.927G>A p.Lys309= p.K309= ENST00000298351 NM_020431.2 309 aaG/aaA 0 -TMEM66 UCSF GRCh37 8 29927334 29927334 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 74 35 97 0 ENST00000256255.6:c.524G>A p.Gly175Glu p.G175E ENST00000256255 NM_016127.4 175 gGa/gAa 0 -TMEM67 UCSF GRCh37 8 94793962 94793962 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 22 26 0 ENST00000453321.3:c.1055G>A p.Gly352Asp p.G352D ENST00000453321 NM_153704.5 352 gGt/gAt 0 -TMEM8A UCSF GRCh37 16 422611 422611 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 102 70 46 0 ENST00000431232.2:c.2019G>A p.Trp673Ter p.W673* ENST00000431232 NM_021259.2 673 tgG/tgA 0 -TMIGD1 UCSF GRCh37 17 28652071 28652071 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 94 57 89 0 ENST00000328886.4:c.403G>A p.Glu135Lys p.E135K ENST00000328886 NM_206832.1 135 Gaa/Aaa 0 -TMIGD2 UCSF GRCh37 19 4297985 4297985 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 124 89 79 0 ENST00000301272.2:c.404C>T p.Pro135Leu p.P135L ENST00000301272 NM_144615.2 135 cCa/cTa 0 -TMOD4 UCSF GRCh37 1 151146957 151146957 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 147 76 106 0 ENST00000295314.4:c.190G>A p.Asp64Asn p.D64N ENST00000295314 NM_013353.2 64 Gac/Aac 0 -TMPRSS11D UCSF GRCh37 4 68703921 68703921 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 59 33 55 0 ENST00000283916.6:c.444C>T p.Asn148= p.N148= ENST00000283916 NM_004262.2 148 aaC/aaT 0 -TMPRSS15 UCSF GRCh37 21 19744516 19744516 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 45 23 51 0 ENST00000284885.3:c.658A>C p.Met220Leu p.M220L ENST00000284885 NM_002772.2 220 Atg/Ctg 0 -TMPRSS7 UCSF GRCh37 3 111797718 111797718 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 33 37 59 0 ENST00000419127.1:c.1976C>T p.Ala659Val p.A659V ENST00000419127 NM_001042575.2 659 gCc/gTc 0 -TMX3 UCSF GRCh37 18 66364480 66364480 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 21 6 9 0 ENST00000299608.2:c.553G>A p.Glu185Lys p.E185K ENST00000299608 NM_019022.3 185 Gaa/Aaa 0 -TNK1 UCSF GRCh37 17 7292202 7292202 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 19 13 15 0 ENST00000576812.1:c.1887G>A p.Lys629= p.K629= ENST00000576812 NM_001251902.1 629 aaG/aaA 0 -TNKS1BP1 UCSF GRCh37 11 57077016 57077016 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 88 77 60 0 ENST00000532437.1:c.3169G>A p.Val1057Met p.V1057M ENST00000532437 1057 Gtg/Atg 0 -TNPO2 UCSF GRCh37 19 12826505 12826505 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 31 41 0 ENST00000425528.1:c.374C>T p.Pro125Leu p.P125L ENST00000425528 125 cCc/cTc 0 -TNPO2 UCSF GRCh37 19 12814595 12814595 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 38 11 26 0 ENST00000425528.1:c.2043G>A p.Arg681= p.R681= ENST00000425528 681 cgG/cgA 0 -TNRC6A UCSF GRCh37 16 24801750 24801750 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 58 88 0 ENST00000395799.3:c.1787G>A p.Gly596Glu p.G596E ENST00000395799 NM_014494.2 596 gGa/gAa 0 -TNS3 UCSF GRCh37 7 47408592 47408592 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 111 40 35 1 ENST00000398879.1:c.1651C>T p.Arg551Trp p.R551W ENST00000398879 551 Cgg/Tgg 0 -TOMM7 UCSF GRCh37 7 22862346 22862346 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 197 64 75 0 ENST00000358435.4:c.53G>A p.Gly18Glu p.G18E ENST00000358435 NM_019059.3 18 gGg/gAg 0 -TONSL UCSF GRCh37 8 145661746 145661746 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 32 27 0 ENST00000409379.3:c.2070G>A p.Glu690= p.E690= ENST00000409379 NM_013432.4 690 gaG/gaA 0 -TOP1 UCSF GRCh37 20 39729897 39729897 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 46 77 0 ENST00000361337.2:c.1212C>T p.Val404= p.V404= ENST00000361337 NM_003286.2 404 gtC/gtT 0 -TOP1MT UCSF GRCh37 8 144403488 144403488 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 28 16 0 ENST00000329245.4:c.1029C>T p.Leu343= p.L343= ENST00000329245 NM_052963.2 343 ctC/ctT 0 -TOP2B UCSF GRCh37 3 25650771 25650771 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 92 16 35 0 ENST00000435706.2:c.3981G>A p.Arg1327= p.R1327= ENST00000435706 NM_001068.3 1327 cgG/cgA 0 -TP53 UCSF GRCh37 17 7578211 7578211 + missense_variant Missense_Mutation SNP C C G NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 41 23 46 0 ENST00000269305.4:c.638G>C p.Arg213Pro p.R213P ENST00000269305 NM_001126112.2 213 cGa/cCa 0 -TP53 UCSF GRCh37 17 7578275 7578275 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec somatic WXS Sanger Illumina HiSeq 46 31 43 0 ENST00000269305.4:c.574C>T p.Gln192Ter p.Q192* ENST00000269305 NM_001126112.2 192 Cag/Tag 0 -TP53BP2 UCSF GRCh37 1 223971997 223971997 + synonymous_variant Silent SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 97 11 84 0 ENST00000343537.7:c.3183C>A p.Gly1061= p.G1061= ENST00000343537 NM_001031685.2 1061 ggC/ggA 0 -TP53I13 UCSF GRCh37 17 27898940 27898940 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 99 65 67 0 ENST00000301057.7:c.378C>T p.Ala126= p.A126= ENST00000301057 NM_138349.2 126 gcC/gcT 0 -TP53INP1 UCSF GRCh37 8 95953109 95953109 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 38 60 0 ENST00000342697.4:c.61C>T p.Pro21Ser p.P21S ENST00000342697 NM_033285.3 21 Cca/Tca 0 -TP63 UCSF GRCh37 3 189587118 189587118 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 37 16 45 0 ENST00000264731.3:c.1135C>T p.Arg379Cys p.R379C ENST00000264731 NM_003722.4 379 Cgt/Tgt 0 -TPM3 UCSF GRCh37 1 154164488 154164488 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 56 43 84 0 ENST00000368530.2:c.7G>A p.Glu3Lys p.E3K ENST00000368530 NM_152263.3 3 Gag/Aag 0 -TPM3 UCSF GRCh37 1 154163740 154163740 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 68 31 82 0 ENST00000368530.2:c.165G>A p.Glu55= p.E55= ENST00000368530 NM_152263.3 55 gaG/gaA 0 -TPR UCSF GRCh37 1 186331971 186331971 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 71 31 45 0 ENST00000367478.4:c.694G>A p.Glu232Lys p.E232K ENST00000367478 NM_003292.2 232 Gag/Aag 0 -TPTE UCSF GRCh37 21 10907015 10907015 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 132 20 75 0 ENST00000361285.4:c.1546G>A p.Asp516Asn p.D516N ENST00000361285 NM_199261.2 516 Gat/Aat 0 -TRAF3 UCSF GRCh37 14 103371743 103371743 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 104 12 40 0 ENST00000560371.1:c.1329G>A p.Gln443= p.Q443= ENST00000560371 NM_145725.2 443 caG/caA 0 -TRAM1L1 UCSF GRCh37 4 118006308 118006308 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 80 49 56 0 ENST00000310754.4:c.242C>T p.Ala81Val p.A81V ENST00000310754 NM_152402.2 81 gCc/gTc 0 -TRDN UCSF GRCh37 6 123581772 123581772 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 19 41 0 ENST00000398178.3:c.1816G>A p.Glu606Lys p.E606K ENST00000398178 NM_006073.3 606 Gaa/Aaa 0 -TRERF1 UCSF GRCh37 6 42224797 42224797 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 41 88 0 ENST00000372922.4:c.2380C>T p.Leu794Phe p.L794F ENST00000372922 NM_033502.2 794 Ctc/Ttc 0 -TRIM16 UCSF GRCh37 17 15554749 15554749 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 88 63 0 ENST00000455584.2:c.175G>A p.Asp59Asn p.D59N ENST00000455584 59 Gac/Aac 0 -TRIM28 UCSF GRCh37 19 59061156 59061156 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 39 64 69 0 ENST00000253024.5:c.2035G>A p.Asp679Asn p.D679N ENST00000253024 NM_005762.2 679 Gat/Aat 0 -TRIM3 UCSF GRCh37 11 6472289 6472289 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 10 16 27 0 ENST00000525074.1:c.1703C>T p.Thr568Ile p.T568I ENST00000525074 NM_001248006.1 568 aCc/aTc 0 -TRIM42 UCSF GRCh37 3 140419730 140419730 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 17 43 0 ENST00000286349.3:c.2086G>A p.Val696Met p.V696M ENST00000286349 NM_152616.4 696 Gtg/Atg 0 -TRIM50 UCSF GRCh37 7 72732893 72732893 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 135 50 65 0 ENST00000333149.2:c.654C>T p.Thr218= p.T218= ENST00000333149 NM_001281450.1 218 acC/acT 0 -TRIM50 UCSF GRCh37 7 72732686 72732686 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 107 39 68 0 ENST00000333149.2:c.749G>A p.Arg250Lys p.R250K ENST00000333149 NM_001281450.1 250 aGa/aAa 0 -TRIM56 UCSF GRCh37 7 100732393 100732393 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 188 54 41 0 ENST00000306085.6:c.1800G>A p.Gly600= p.G600= ENST00000306085 NM_030961.1 600 ggG/ggA 0 -TRIM60 UCSF GRCh37 4 165962326 165962326 + stop_gained Nonsense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 22 47 104 0 ENST00000512596.1:c.1102C>T p.Gln368Ter p.Q368* ENST00000512596 NM_152620.2 368 Caa/Taa 0 -TRIM67 UCSF GRCh37 1 231299572 231299572 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 15 9 8 0 ENST00000366653.5:c.857G>A p.Gly286Asp p.G286D ENST00000366653 286 gGc/gAc 0 -TRIOBP UCSF GRCh37 22 38121128 38121128 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 137 78 165 0 ENST00000406386.3:c.2565G>A p.Gln855= p.Q855= ENST00000406386 NM_001039141.2 855 caG/caA 0 -TRMT12 UCSF GRCh37 8 125463712 125463712 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 103 78 76 0 ENST00000328599.3:c.544G>A p.Asp182Asn p.D182N ENST00000328599 NM_017956.3 182 Gat/Aat 0 -TRPA1 UCSF GRCh37 8 72973889 72973889 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 50 83 0 ENST00000262209.4:c.915C>T p.Thr305= p.T305= ENST00000262209 NM_007332.2 305 acC/acT 0 -TRPC3 UCSF GRCh37 4 122853901 122853901 + missense_variant Missense_Mutation SNP T T G NOVEL P05_Rec Untested WXS Illumina HiSeq 98 82 33 0 ENST00000379645.3:c.512A>C p.Asn171Thr p.N171T ENST00000379645 NM_001130698.1 171 aAc/aCc 0 -TRPM2 UCSF GRCh37 21 45815341 45815341 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 89 35 67 0 ENST00000397928.1:c.1839C>T p.Gly613= p.G613= ENST00000397928 NM_003307.3 613 ggC/ggT 0 -TRPM3 UCSF GRCh37 9 73376591 73376591 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 35 37 55 0 ENST00000377110.3:c.1198A>G p.Thr400Ala p.T400A ENST00000377110 400 Act/Gct 0 -TRPM3 UCSF GRCh37 9 73426129 73426129 + intron_variant Intron SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 37 22 19 0 ENST00000377110.3:c.973+16634C>T *325* ENST00000377110 0 -TRPM6 UCSF GRCh37 9 77400854 77400854 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 151 41 108 0 ENST00000360774.1:c.2855G>A p.Arg952Gln p.R952Q ENST00000360774 NM_017662.4 952 cGg/cAg 0 -TRPM6 UCSF GRCh37 9 77418721 77418721 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 97 52 94 0 ENST00000360774.1:c.1720T>C p.Tyr574His p.Y574H ENST00000360774 NM_017662.4 574 Tac/Cac 0 -TRPV2 UCSF GRCh37 17 16320991 16320991 + synonymous_variant Silent SNP A A C NOVEL P05_Rec Untested WXS Illumina HiSeq 54 21 49 0 ENST00000338560.7:c.9A>C p.Ser3= p.S3= ENST00000338560 NM_016113.4 3 tcA/tcC 0 -TRRAP UCSF GRCh37 7 98579453 98579453 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 17 11 13 0 ENST00000359863.4:c.8675C>T p.Ala2892Val p.A2892V ENST00000359863 NM_001244580.1 2892 gCc/gTc 0 -TSGA10IP UCSF GRCh37 11 65721163 65721163 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 58 42 32 0 ENST00000532620.1:n.1508G>A *503* ENST00000532620 0 -TSHZ2 UCSF GRCh37 20 51871740 51871740 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 124 78 107 0 ENST00000371497.5:c.1743G>A p.Lys581= p.K581= ENST00000371497 NM_173485.5 581 aaG/aaA 0 -TSHZ3 UCSF GRCh37 19 31768537 31768537 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 42 49 0 ENST00000240587.4:c.2162C>T p.Pro721Leu p.P721L ENST00000240587 NM_020856.2 721 cCt/cTt 0 -TSPAN12 UCSF GRCh37 7 120428745 120428745 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 237 123 118 0 ENST00000222747.3:c.819T>C p.Cys273= p.C273= ENST00000222747 NM_012338.3 273 tgT/tgC 0 -TSSK3 UCSF GRCh37 1 32829360 32829360 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 51 38 50 0 ENST00000373534.3:c.310G>A p.Gly104Arg p.G104R ENST00000373534 NM_052841.3 104 Ggg/Agg 0 -TTBK1 UCSF GRCh37 6 43220535 43220535 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 23 44 0 ENST00000259750.4:c.167C>T p.Thr56Ile p.T56I ENST00000259750 NM_032538.1 56 aCc/aTc 0 -TTC21B UCSF GRCh37 2 166747022 166747022 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 33 41 0 ENST00000243344.7:c.3230G>A p.Gly1077Asp p.G1077D ENST00000243344 NM_024753.4 1077 gGt/gAt 0 -TTC3 UCSF GRCh37 21 38572625 38572625 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 17 34 0 ENST00000399017.2:c.5943G>A p.Gly1981= p.G1981= ENST00000399017 NM_003316.3 1981 ggG/ggA 0 -SKIC3 UCSF GRCh37 5 94852056 94852056 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 21 43 0 ENST00000358746.2:c.2634+1G>A p.X878_splice ENST00000358746 NM_014639.3 0 -TTC7A UCSF GRCh37 2 47205951 47205951 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 63 125 0 ENST00000319190.5:c.669G>A p.Ser223= p.S223= ENST00000319190 NM_020458.2 223 tcG/tcA 0 -TTC7A UCSF GRCh37 2 47222302 47222302 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 17 53 0 ENST00000319190.5:c.1029G>A p.Glu343= p.E343= ENST00000319190 NM_020458.2 343 gaG/gaA 0 -TTN UCSF GRCh37 2 179436688 179436688 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 154 74 98 0 ENST00000589042.1:c.74171C>T p.Thr24724Ile p.T24724I ENST00000589042 NM_001267550.1 24724 aCt/aTt 0 -TTN UCSF GRCh37 2 179438831 179438831 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 176 92 164 0 ENST00000589042.1:c.72028C>T p.Pro24010Ser p.P24010S ENST00000589042 NM_001267550.1 24010 Cca/Tca 0 -TTN UCSF GRCh37 2 179464157 179464157 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 140 106 141 0 ENST00000589042.1:c.56363C>T p.Pro18788Leu p.P18788L ENST00000589042 NM_001267550.1 18788 cCa/cTa 0 -TTN UCSF GRCh37 2 179448415 179448415 + missense_variant Missense_Mutation SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 95 45 64 0 ENST00000589042.1:c.65494T>C p.Phe21832Leu p.F21832L ENST00000589042 NM_001267550.1 21832 Ttt/Ctt 0 -TTYH2 UCSF GRCh37 17 72233571 72233571 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 47 32 64 0 ENST00000269346.4:c.553C>T p.Leu185Phe p.L185F ENST00000269346 NM_032646.5 185 Ctc/Ttc 0 -TUBA3D UCSF GRCh37 2 132237810 132237810 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 159 48 136 0 ENST00000321253.6:c.544G>A p.Val182Met p.V182M ENST00000321253 NM_080386.3 182 Gtg/Atg 0 -TUBA8 UCSF GRCh37 22 18607059 18607059 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 42 22 27 0 ENST00000330423.3:c.363C>T p.Arg121= p.R121= ENST00000330423 NM_018943.2 121 cgC/cgT 0 -TUBB1 UCSF GRCh37 20 57599701 57599701 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 91 68 80 0 ENST00000217133.1:c.1219G>A p.Glu407Lys p.E407K ENST00000217133 NM_030773.3 407 Gaa/Aaa 0 -TUBB6 UCSF GRCh37 18 12325470 12325470 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 182 109 92 0 ENST00000317702.5:c.682C>T p.Leu228= p.L228= ENST00000317702 228 Ctg/Ttg 0 -TUBG1 UCSF GRCh37 17 40762482 40762482 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 87 20 76 0 ENST00000251413.3:c.204C>T p.Asp68= p.D68= ENST00000251413 NM_001070.4 68 gaC/gaT 0 -TUT1 UCSF GRCh37 11 62349040 62349040 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 45 19 27 0 ENST00000308436.7:c.521C>T p.Ser174Phe p.S174F ENST00000308436 NM_022830.2 174 tCc/tTc 0 -TUT1 UCSF GRCh37 11 62349173 62349173 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 15 14 8 0 ENST00000308436.7:c.388G>A p.Gly130Arg p.G130R ENST00000308436 NM_022830.2 130 Gga/Aga 0 -TXNDC15 UCSF GRCh37 5 134223596 134223596 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 23 32 0 ENST00000358387.4:c.315G>A p.Val105= p.V105= ENST00000358387 NM_024715.3 105 gtG/gtA 0 -TXNIP UCSF GRCh37 1 145441183 145441183 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 44 77 0 ENST00000369317.4:c.1141G>A p.Val381Met p.V381M ENST00000369317 NM_006472.4 381 Gtg/Atg 0 -TYW1B UCSF GRCh37 7 72178617 72178617 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 160 81 99 0 ENST00000435769.2:c.1333C>T p.Leu445Phe p.L445F ENST00000435769 NM_001145440.1 445 Ctt/Ttt 0 -U2SURP UCSF GRCh37 3 142739511 142739511 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 102 83 146 0 ENST00000473835.2:c.709G>A p.Asp237Asn p.D237N ENST00000473835 NM_001080415.1 237 Gat/Aat 0 -U2SURP UCSF GRCh37 3 142741787 142741787 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 84 41 74 0 ENST00000473835.2:c.1111G>A p.Glu371Lys p.E371K ENST00000473835 NM_001080415.1 371 Gaa/Aaa 0 -UACA UCSF GRCh37 15 70960077 70960077 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 77 120 0 ENST00000322954.6:c.2946G>A p.Lys982= p.K982= ENST00000322954 NM_018003.2 982 aaG/aaA 0 -UBA2 UCSF GRCh37 19 34957828 34957828 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 28 19 45 0 ENST00000246548.4:c.1650C>T p.Ala550= p.A550= ENST00000246548 NM_005499.2 550 gcC/gcT 0 -UBE2D1 UCSF GRCh37 10 60127692 60127692 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 30 26 65 0 ENST00000373910.4:c.314C>T p.Ser105Phe p.S105F ENST00000373910 NM_003338.4 105 tCc/tTc 0 -UBE2H UCSF GRCh37 7 129592377 129592377 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 138 52 33 0 ENST00000355621.3:c.19G>A p.Gly7Ser p.G7S ENST00000355621 NM_003344.3 7 Ggc/Agc 0 -UBE3A UCSF GRCh37 15 25616065 25616065 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 33 51 0 ENST00000397954.2:c.1265G>A p.Gly422Asp p.G422D ENST00000397954 422 gGt/gAt 0 -UBE3B UCSF GRCh37 12 109947520 109947520 + splice_donor_variant Splice_Site SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 116 44 62 0 ENST00000342494.3:c.1741+1G>A p.X581_splice ENST00000342494 NM_130466.3 0 -UBE3C UCSF GRCh37 7 157009665 157009665 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 33 23 28 0 ENST00000348165.5:c.1914G>A p.Lys638= p.K638= ENST00000348165 NM_014671.2 638 aaG/aaA 0 -UBE4A UCSF GRCh37 11 118260552 118260552 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 73 96 0 ENST00000431736.2:c.2721C>T p.Asp907= p.D907= ENST00000431736 907 gaC/gaT 0 -UBE4B UCSF GRCh37 1 10211387 10211387 + stop_gained Nonsense_Mutation SNP C C G NOVEL P05_Rec Untested WXS Illumina HiSeq 56 37 59 0 ENST00000343090.6:c.2694C>G p.Tyr898Ter p.Y898* ENST00000343090 NM_001105562.2 898 taC/taG 0 -UBQLN4 UCSF GRCh37 1 156021538 156021538 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 75 25 61 0 ENST00000368309.3:c.219G>A p.Lys73= p.K73= ENST00000368309 NM_020131.3 73 aaG/aaA 0 -UBR2 UCSF GRCh37 6 42657402 42657402 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 153 80 122 0 ENST00000372899.1:c.5120G>A p.Gly1707Glu p.G1707E ENST00000372899 NM_015255.2 1707 gGa/gAa 0 -UBR4 UCSF GRCh37 1 19454142 19454142 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 137 77 114 0 ENST00000375254.3:c.9203C>T p.Ser3068Phe p.S3068F ENST00000375254 NM_020765.2 3068 tCt/tTt 0 -UFL1 UCSF GRCh37 6 97001376 97001376 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 15 38 0 ENST00000369278.4:c.2382G>A p.Glu794= p.E794= ENST00000369278 NM_015323.4 794 gaG/gaA 0 -UGDH UCSF GRCh37 4 39511484 39511484 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 36 37 0 ENST00000316423.6:c.707C>T p.Ser236Phe p.S236F ENST00000316423 NM_001184701.1 236 tCc/tTc 0 -UGGT1 UCSF GRCh37 2 128877945 128877945 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 104 74 101 0 ENST00000259253.6:c.888C>T p.Asp296= p.D296= ENST00000259253 NM_020120.3 296 gaC/gaT 0 -UHRF1 UCSF GRCh37 19 4954743 4954743 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 78 57 33 0 ENST00000592666.1:n.2615G>A *872* ENST00000592666 0 -ULK3 UCSF GRCh37 15 75132638 75132638 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 9 12 11 0 ENST00000440863.2:c.633C>T p.Pro211= p.P211= ENST00000440863 NM_001099436.1 211 ccC/ccT 0 -UMODL1 UCSF GRCh37 21 43531503 43531503 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 34 39 19 0 ENST00000408989.2:c.2171G>A p.Ser724Asn p.S724N ENST00000408989 NM_173568.3 724 aGc/aAc 0 -UPF2 UCSF GRCh37 10 11984663 11984663 + splice_donor_variant Splice_Site SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 27 49 0 ENST00000356352.2:c.3378+1G>A p.X1126_splice ENST00000356352 0 -USH2A UCSF GRCh37 1 215848163 215848163 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 38 27 73 0 ENST00000307340.3:c.13090C>T p.Leu4364Phe p.L4364F ENST00000307340 NM_206933.2 4364 Ctt/Ttt 0 -USP1 UCSF GRCh37 1 62910585 62910585 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 99 57 92 0 ENST00000339950.4:c.734G>A p.Gly245Asp p.G245D ENST00000339950 NM_003368.4 245 gGt/gAt 0 -USP2 UCSF GRCh37 11 119227929 119227929 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 6 11 11 0 ENST00000260187.2:c.1698G>A p.Gly566= p.G566= ENST00000260187 NM_004205.4 566 ggG/ggA 0 -USP24 UCSF GRCh37 1 55591413 55591413 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 91 56 90 0 ENST00000294383.6:c.3654G>A p.Met1218Ile p.M1218I ENST00000294383 NM_015306.2 1218 atG/atA 0 -USP24 UCSF GRCh37 1 55612626 55612626 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 160 68 117 0 ENST00000294383.6:c.2226G>A p.Gln742= p.Q742= ENST00000294383 NM_015306.2 742 caG/caA 0 -USP28 UCSF GRCh37 11 113700020 113700020 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 64 38 75 0 ENST00000003302.4:c.958G>A p.Val320Ile p.V320I ENST00000003302 NM_020886.2 320 Gta/Ata 0 -USP35 UCSF GRCh37 11 77907395 77907395 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 53 29 12 0 ENST00000529308.1:c.104G>A p.Arg35His p.R35H ENST00000529308 NM_020798.2 35 cGt/cAt 0 -USP35 UCSF GRCh37 11 77921413 77921413 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 157 77 37 0 ENST00000529308.1:c.2512G>A p.Ala838Thr p.A838T ENST00000529308 NM_020798.2 838 Gct/Act 0 -USP37 UCSF GRCh37 2 219319679 219319679 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 87 49 82 0 ENST00000258399.3:c.2914G>A p.Gly972Arg p.G972R ENST00000258399 NM_020935.2 972 Ggg/Agg 0 -USP46 UCSF GRCh37 4 53492238 53492238 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 215 27 107 0 ENST00000441222.3:c.508G>A p.Glu170Lys p.E170K ENST00000441222 NM_022832.3 170 Gag/Aag 0 -USP6 UCSF GRCh37 17 5073988 5073988 + synonymous_variant Silent SNP C C T snp132_rs16964010 P05_Rec Untested WXS Illumina HiSeq 104 74 148 0 ENST00000574788.1:c.3732C>T p.Ser1244= p.S1244= ENST00000574788 1244 agC/agT 0 -USP6NL UCSF GRCh37 10 11523793 11523793 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 127 69 134 0 ENST00000277575.5:c.1105G>A p.Ala369Thr p.A369T ENST00000277575 NM_001080491.2 369 Gca/Aca 0 -USPL1 UCSF GRCh37 13 31227426 31227426 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 67 95 0 ENST00000255304.4:c.1380G>A p.Trp460Ter p.W460* ENST00000255304 NM_005800.4 460 tgG/tgA 0 -UTRN UCSF GRCh37 6 144863953 144863953 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 31 9 14 0 ENST00000367545.3:c.6542C>T p.Thr2181Ile p.T2181I ENST00000367545 NM_007124.2 2181 aCc/aTc 0 -VARS2 UCSF GRCh37 6 30890318 30890318 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 84 56 91 0 ENST00000541562.1:c.2114G>A p.Gly705Glu p.G705E ENST00000541562 NM_001167734.1 705 gGg/gAg 0 -VAV2 UCSF GRCh37 9 136635609 136635609 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 131 46 33 0 ENST00000371850.3:c.2238C>T p.Tyr746= p.Y746= ENST00000371850 NM_001134398.1 746 taC/taT 0 -VIL1 UCSF GRCh37 2 219300072 219300072 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 26 14 31 0 ENST00000248444.5:c.1741G>A p.Glu581Lys p.E581K ENST00000248444 NM_007127.2 581 Gag/Aag 0 -VIPAR UCSF GRCh37 14 77917622 77917622 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 123 74 126 0 ENST00000553888.1:c.251G>A p.Gly84Glu p.G84E ENST00000553888 NM_022067.3 84 gGg/gAg 0 -VIPAR UCSF GRCh37 14 77920421 77920421 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 40 27 54 0 ENST00000553888.1:c.25G>A p.Glu9Lys p.E9K ENST00000553888 NM_022067.3 9 Gag/Aag 0 -VMO1 UCSF GRCh37 17 4689213 4689213 + intron_variant Intron SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 122 65 83 0 ENST00000328739.5:c.311+19G>A *104* ENST00000328739 NM_182566.2 0 -VN1R5 UCSF GRCh37 1 247420069 247420069 + non_coding_transcript_exon_variant RNA SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 113 76 165 0 ENST00000472952.2:n.696T>C *232* ENST00000472952 0 -VPS11 UCSF GRCh37 11 118938649 118938649 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 71 51 36 0 ENST00000300793.6:c.115G>A p.Ala39Thr p.A39T ENST00000300793 NM_021729.4 39 Gct/Act 0 -VPS11 UCSF GRCh37 11 118950010 118950010 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 16 37 0 ENST00000300793.6:c.2435G>A p.Ser812Asn p.S812N ENST00000300793 NM_021729.4 812 aGt/aAt 0 -VPS13B UCSF GRCh37 8 100866404 100866404 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 44 37 53 0 ENST00000358544.2:c.10862G>A p.Arg3621Lys p.R3621K ENST00000358544 NM_017890.4 3621 aGa/aAa 0 -VPS13B UCSF GRCh37 8 100523518 100523518 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 97 51 86 0 ENST00000358544.2:c.4486G>A p.Ala1496Thr p.A1496T ENST00000358544 NM_017890.4 1496 Gca/Aca 0 -VPS13C UCSF GRCh37 15 62269303 62269303 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 58 33 43 0 ENST00000261517.5:c.2386G>A p.Glu796Lys p.E796K ENST00000261517 NM_020821.2 796 Gaa/Aaa 0 -VPS8 UCSF GRCh37 3 184742165 184742165 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 27 31 63 0 ENST00000437079.3:c.4044C>T p.Pro1348= p.P1348= ENST00000437079 NM_001009921.2 1348 ccC/ccT 0 -VWA5B2 UCSF GRCh37 3 183959043 183959043 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 19 9 0 ENST00000426955.2:c.3031G>A p.Gly1011Arg p.G1011R ENST00000426955 NM_138345.1 1011 Ggg/Agg 0 -WAPAL UCSF GRCh37 10 88203119 88203119 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 30 72 0 ENST00000298767.5:c.3324C>T p.Ala1108= p.A1108= ENST00000298767 NM_015045.2 1108 gcC/gcT 0 -WDFY3 UCSF GRCh37 4 85716108 85716108 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 29 18 31 0 ENST00000295888.4:c.3192C>T p.Ala1064= p.A1064= ENST00000295888 NM_014991.4 1064 gcC/gcT 0 -WDR24 UCSF GRCh37 16 739343 739343 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 54 44 25 0 ENST00000293883.4:c.298G>A p.Val100Ile p.V100I ENST00000293883 NM_032259.2 100 Gtc/Atc 0 -WDR3 UCSF GRCh37 1 118483801 118483801 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 35 70 0 ENST00000349139.5:c.844G>A p.Val282Ile p.V282I ENST00000349139 NM_006784.2 282 Gtt/Att 0 -WDR44 UCSF GRCh37 X 117532428 117532428 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 77 28 83 0 ENST00000254029.3:c.1269G>A p.Gln423= p.Q423= ENST00000254029 NM_019045.4 423 caG/caA 0 -WDR47 UCSF GRCh37 1 109553812 109553812 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.00091 P05_Rec Untested WXS Illumina HiSeq 247 157 208 0 ENST00000400794.3:c.877C>T p.Pro293Ser p.P293S ENST00000400794 293 Cct/Tct 0 -WDR49 UCSF GRCh37 3 167293884 167293884 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 54 45 60 0 ENST00000308378.3:c.308C>T p.Ser103Phe p.S103F ENST00000308378 NM_178824.3 103 tCt/tTt 0 -WDR52 UCSF GRCh37 3 113082355 113082355 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 25 15 26 0 ENST00000393845.2:c.2740C>T p.Pro914Ser p.P914S ENST00000393845 NM_001164496.1 914 Cca/Tca 0 -WDR60 UCSF GRCh37 7 158715093 158715093 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 320 76 179 0 ENST00000407559.3:c.1947C>T p.Thr649= p.T649= ENST00000407559 NM_018051.4 649 acC/acT 0 -WDR65 UCSF GRCh37 1 43685208 43685208 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 46 36 63 0 ENST00000372492.4:c.2247G>A p.Gln749= p.Q749= ENST00000372492 NM_001195831.2 749 caG/caA 0 -WDR7 UCSF GRCh37 18 54362355 54362355 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 72 61 94 0 ENST00000254442.3:c.1283G>A p.Gly428Glu p.G428E ENST00000254442 NM_015285.2 428 gGa/gAa 0 -WDR72 UCSF GRCh37 15 53908093 53908093 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 126 68 132 0 ENST00000396328.1:c.2310G>A p.Lys770= p.K770= ENST00000396328 NM_182758.3 770 aaG/aaA 0 -WDR75 UCSF GRCh37 2 190327356 190327356 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 52 91 0 ENST00000314761.4:c.925C>T p.His309Tyr p.H309Y ENST00000314761 NM_032168.1 309 Cac/Tac 0 -WDR87 UCSF GRCh37 19 38378524 38378524 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 109 61 66 0 ENST00000303868.5:c.5670G>A p.Gln1890= p.Q1890= ENST00000303868 NM_031951.3 1890 caG/caA 0 -WDR90 UCSF GRCh37 16 716093 716093 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 97 54 33 0 ENST00000293879.4:c.4578G>A p.Val1526= p.V1526= ENST00000293879 1526 gtG/gtA 0 -WDR92 UCSF GRCh37 2 68361836 68361836 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 19 24 48 0 ENST00000295121.6:c.864G>A p.Lys288= p.K288= ENST00000295121 NM_138458.3 288 aaG/aaA 0 -WHSC1 UCSF GRCh37 4 1956990 1956990 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 63 35 34 0 ENST00000382891.5:c.2441C>T p.Thr814Ile p.T814I ENST00000382891 NM_133335.3 814 aCt/aTt 0 -WIPF3 UCSF GRCh37 7 29918679 29918679 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 161 32 67 0 ENST00000409290.1:c.278G>A p.Ser93Asn p.S93N ENST00000409290 NM_001080529.2 93 aGc/aAc 0 -WISP1 UCSF GRCh37 8 134239825 134239825 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 50 77 0 ENST00000250160.6:c.976G>A p.Asp326Asn p.D326N ENST00000250160 NM_003882.3 326 Gat/Aat 0 -WNK1 UCSF GRCh37 12 970338 970338 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 279 90 132 0 ENST00000315939.6:c.1780G>A p.Glu594Lys p.E594K ENST00000315939 NM_018979.3 594 Gaa/Aaa 0 -WNT10A UCSF GRCh37 2 219746931 219746931 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 52 32 43 0 ENST00000258411.3:c.162G>A p.Val54= p.V54= ENST00000258411 NM_025216.2 54 gtG/gtA 0 -WNT11 UCSF GRCh37 11 75907610 75907610 + missense_variant Missense_Mutation SNP G G T NOVEL P05_Rec Untested WXS Illumina HiSeq 154 18 40 0 ENST00000322563.3:c.236C>A p.Ala79Asp p.A79D ENST00000322563 NM_004626.2 79 gCc/gAc 0 -WNT2B UCSF GRCh37 1 113051913 113051913 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 8 11 0 ENST00000369684.4:c.29C>T p.Ala10Val p.A10V ENST00000369684 NM_024494.2 10 gCt/gTt 0 -WRN UCSF GRCh37 8 30921871 30921871 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 92 49 88 0 ENST00000298139.5:c.276G>A p.Gly92= p.G92= ENST00000298139 NM_000553.4 92 ggG/ggA 0 -WWC1 UCSF GRCh37 5 167858422 167858422 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 19 6 40 0 ENST00000521089.1:c.2253C>T p.Thr751= p.T751= ENST00000521089 751 acC/acT 0 -XIRP1 UCSF GRCh37 3 39227263 39227263 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 40 15 8 0 ENST00000340369.3:c.3674C>T p.Thr1225Ile p.T1225I ENST00000340369 NM_194293.2 1225 aCc/aTc 0 -XPO7 UCSF GRCh37 8 21853052 21853052 + missense_variant Missense_Mutation SNP C C A NOVEL P05_Rec Untested WXS Illumina HiSeq 113 63 109 0 ENST00000252512.9:c.2287C>A p.His763Asn p.H763N ENST00000252512 NM_015024.4 763 Cat/Aat 0 -XPOT UCSF GRCh37 12 64819211 64819211 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 60 57 0 ENST00000332707.5:c.1546G>A p.Glu516Lys p.E516K ENST00000332707 NM_007235.4 516 Gaa/Aaa 0 -XRCC1 UCSF GRCh37 19 44050777 44050777 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 79 45 82 0 ENST00000262887.5:c.1396G>A p.Glu466Lys p.E466K ENST00000262887 466 Gaa/Aaa 0 -XRCC6 UCSF GRCh37 22 42046737 42046737 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 18 30 93 0 ENST00000359308.4:c.971G>A p.Ser324Asn p.S324N ENST00000359308 324 aGt/aAt 0 -XYLB UCSF GRCh37 3 38407160 38407160 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 63 29 24 0 ENST00000207870.3:c.440G>A p.Arg147His p.R147H ENST00000207870 NM_005108.3 147 cGc/cAc 0 -XYLB UCSF GRCh37 3 38420763 38420763 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 70 10 52 0 ENST00000207870.3:c.1221G>A p.Glu407= p.E407= ENST00000207870 NM_005108.3 407 gaG/gaA 0 -YIF1B UCSF GRCh37 19 38796082 38796082 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 22 12 11 0 ENST00000339413.6:c.855C>T p.Ala285= p.A285= ENST00000339413 NM_001039673.2 285 gcC/gcT 0 -YLPM1 UCSF GRCh37 14 75265287 75265287 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 35 84 0 ENST00000325680.7:c.3287G>A p.Gly1096Asp p.G1096D ENST00000325680 NM_019589.2 1096 gGt/gAt 0 -ZAN UCSF GRCh37 7 100345790 100345790 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 53 25 67 0 ENST00000546292.1:c.1054C>T p.Pro352Ser p.P352S ENST00000546292 NM_173059.1 352 Cca/Tca 0 -ZAN UCSF GRCh37 7 100382390 100382390 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 102 35 56 0 ENST00000546292.1:c.6765G>A p.Leu2255= p.L2255= ENST00000546292 NM_173059.1 2255 ctG/ctA 0 -ZBTB11 UCSF GRCh37 3 101384318 101384318 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 49 65 91 0 ENST00000312938.4:c.1113G>A p.Leu371= p.L371= ENST00000312938 NM_014415.3 371 ttG/ttA 0 -ZBTB40 UCSF GRCh37 1 22834591 22834591 + missense_variant Missense_Mutation SNP G G C NOVEL P05_Rec Untested WXS Illumina HiSeq 36 24 39 0 ENST00000404138.1:c.1458G>C p.Met486Ile p.M486I ENST00000404138 NM_001083621.1 486 atG/atC 0 -ZC3H14 UCSF GRCh37 14 89038484 89038484 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 60 31 75 0 ENST00000251038.5:c.346C>T p.Pro116Ser p.P116S ENST00000251038 NM_024824.4 116 Cca/Tca 0 -ZC3H7A UCSF GRCh37 16 11868307 11868307 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 69 37 76 0 ENST00000396516.2:c.688G>A p.Val230Ile p.V230I ENST00000396516 230 Gtt/Att 0 -ZC3HC1 UCSF GRCh37 7 129691065 129691065 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 73 31 48 0 ENST00000358303.4:c.142G>A p.Asp48Asn p.D48N ENST00000358303 NM_016478.3 48 Gac/Aac 0 -ZCCHC11 UCSF GRCh37 1 52991465 52991465 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 189 111 113 0 ENST00000257177.4:c.488G>A p.Gly163Glu p.G163E ENST00000257177 163 gGa/gAa 0 -ZCCHC14 UCSF GRCh37 16 87446357 87446357 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 192 68 74 0 ENST00000268616.4:c.1559G>A p.Ser520Asn p.S520N ENST00000268616 NM_015144.2 520 aGc/aAc 0 -ZCCHC14 UCSF GRCh37 16 87454311 87454311 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 42 13 20 0 ENST00000268616.4:c.441C>T p.Leu147= p.L147= ENST00000268616 NM_015144.2 147 ctC/ctT 0 -ZCCHC5 UCSF GRCh37 X 77913462 77913462 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 21 43 0 ENST00000321110.1:c.456G>A p.Glu152= p.E152= ENST00000321110 NM_152694.2 152 gaG/gaA 0 -ZCCHC8 UCSF GRCh37 12 122968055 122968055 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 154 60 82 0 ENST00000336229.4:c.557C>T p.Pro186Leu p.P186L ENST00000336229 NM_017612.3 186 cCg/cTg 0 -ZDBF2 UCSF GRCh37 2 207170065 207170065 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 143 76 95 0 ENST00000374423.3:c.813G>A p.Leu271= p.L271= ENST00000374423 NM_020923.1 271 ttG/ttA 0 -ZDHHC19 UCSF GRCh37 3 195935277 195935277 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 31 25 36 0 ENST00000296326.3:c.563C>T p.Ser188Phe p.S188F ENST00000296326 NM_001039617.1 188 tCc/tTc 0 -ZEB2 UCSF GRCh37 2 145157589 145157589 + stop_gained Nonsense_Mutation SNP T T A NOVEL P05_Rec Untested WXS Illumina HiSeq 150 53 80 0 ENST00000558170.2:c.1165A>T p.Lys389Ter p.K389* ENST00000558170 NM_014795.3 389 Aaa/Taa 0 -ZFAND2B UCSF GRCh37 2 220072104 220072104 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 73 59 47 0 ENST00000289528.5:c.111G>A p.Val37= p.V37= ENST00000289528 NM_001270999.1 37 gtG/gtA 0 -ZFAT UCSF GRCh37 8 135669891 135669891 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 36 17 58 0 ENST00000377838.3:c.109G>A p.Glu37Lys p.E37K ENST00000377838 NM_020863.3 37 Gaa/Aaa 0 -ZFHX2 UCSF GRCh37 14 24002825 24002825 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 150 93 106 0 ENST00000419474.3:c.1710G>A p.Gln570= p.Q570= ENST00000419474 NM_033400.2 570 caG/caA 0 -ZFP106 UCSF GRCh37 15 42731479 42731479 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 110 77 137 0 ENST00000263805.4:c.4227G>A p.Glu1409= p.E1409= ENST00000263805 NM_022473.1 1409 gaG/gaA 0 -ZFP37 UCSF GRCh37 9 115805715 115805715 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 105 65 138 0 ENST00000374227.3:c.1183C>T p.His395Tyr p.H395Y ENST00000374227 395 Cat/Tat 0 -ZFP90 UCSF GRCh37 16 68597932 68597932 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 111 46 77 0 ENST00000570495.1:c.1242G>A p.Arg414= p.R414= ENST00000570495 414 agG/agA 0 -ZFPM2 UCSF GRCh37 8 106814052 106814052 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 213 120 228 0 ENST00000407775.2:c.1742C>T p.Ser581Phe p.S581F ENST00000407775 NM_012082.3 581 tCc/tTc 0 -ZFR UCSF GRCh37 5 32385715 32385715 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 91 49 67 0 ENST00000265069.8:c.2540C>T p.Ser847Phe p.S847F ENST00000265069 NM_016107.3 847 tCt/tTt 0 -ZFR2 UCSF GRCh37 19 3823333 3823333 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 81 38 51 0 ENST00000262961.4:c.1282G>A p.Gly428Ser p.G428S ENST00000262961 NM_015174.1 428 Ggt/Agt 0 -ZFR2 UCSF GRCh37 19 3823340 3823340 + missense_variant Missense_Mutation SNP T T A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 35 48 0 ENST00000262961.4:c.1275A>T p.Lys425Asn p.K425N ENST00000262961 NM_015174.1 425 aaA/aaT 0 -ZGPAT UCSF GRCh37 20 62340026 62340026 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 62 37 10 0 ENST00000328969.5:c.94G>A p.Glu32Lys p.E32K ENST00000328969 NM_032527.4 32 Gag/Aag 0 -ZIK1 UCSF GRCh37 19 58096347 58096347 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 32 40 47 0 ENST00000597850.1:c.61G>A p.Asp21Asn p.D21N ENST00000597850 NM_001010879.2 21 Gac/Aac 0 -ZMAT5 UCSF GRCh37 22 30136704 30136704 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 7 13 10 0 ENST00000397781.3:c.206G>A p.Gly69Asp p.G69D ENST00000397781 NM_019103.2 69 gGc/gAc 0 -ZMYM5 UCSF GRCh37 13 20426330 20426330 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 158 84 160 0 ENST00000382905.4:c.-10G>A p.X4_splice ENST00000382905 NM_001039650.2 0 -ZNF192 UCSF GRCh37 6 28116513 28116513 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 79 74 95 0 ENST00000330236.6:c.328C>T p.Leu110= p.L110= ENST00000330236 NM_001278122.1 110 Ctg/Ttg 0 -ZNF212 UCSF GRCh37 7 148947384 148947384 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 166 85 87 0 ENST00000335870.2:c.159G>A p.Lys53= p.K53= ENST00000335870 NM_012256.3 53 aaG/aaA 0 -ZNF217 UCSF GRCh37 20 52193739 52193739 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 86 65 82 0 ENST00000371471.2:c.1564C>T p.His522Tyr p.H522Y ENST00000371471 522 Cac/Tac 0 -ZNF276 UCSF GRCh37 16 89793686 89793686 + splice_acceptor_variant Splice_Site SNP G G A snp132_rs35924380 P05_Rec Untested WXS Illumina HiSeq 93 33 49 0 ENST00000443381.2:c.1007-1G>A p.X336_splice ENST00000443381 NM_001113525.1 0 -ZNF282 UCSF GRCh37 7 148895596 148895596 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 133 64 51 0 ENST00000262085.3:c.337G>A p.Asp113Asn p.D113N ENST00000262085 NM_003575.2 113 Gat/Aat 0 -ZNF287 UCSF GRCh37 17 16456380 16456380 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 124 60 96 0 ENST00000395824.1:c.1076G>A p.Arg359Lys p.R359K ENST00000395824 359 aGg/aAg 0 -ZNF319 UCSF GRCh37 16 58031145 58031145 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 126 50 31 0 ENST00000299237.2:c.1025C>T p.Pro342Leu p.P342L ENST00000299237 NM_020807.1 342 cCc/cTc 0 -ZNF323 UCSF GRCh37 6 28297340 28297340 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 120 69 102 0 ENST00000414429.1:c.121C>T p.Leu41Phe p.L41F ENST00000414429 41 Ctt/Ttt 0 -ZNF324 UCSF GRCh37 19 58982849 58982849 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 13 37 33 0 ENST00000536459.2:c.990G>A p.Arg330= p.R330= ENST00000536459 330 cgG/cgA 0 -ZNF333 UCSF GRCh37 19 14827864 14827864 + stop_gained Nonsense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 13 7 12 0 ENST00000292530.6:c.786G>A p.Trp262Ter p.W262* ENST00000292530 NM_032433.2 262 tgG/tgA 0 -ZNF335 UCSF GRCh37 20 44587967 44587967 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 48 43 30 0 ENST00000322927.2:c.2126G>A p.Gly709Glu p.G709E ENST00000322927 NM_022095.3 709 gGg/gAg 0 -ZNF337 UCSF GRCh37 20 25657391 25657391 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 146 85 168 0 ENST00000376436.1:c.533G>A p.Gly178Glu p.G178E ENST00000376436 178 gGa/gAa 0 -ZNF35 UCSF GRCh37 3 44701118 44701118 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.011,1000g2011may_all_0.0223,snp132_rs116792244 P05_Rec Untested WXS Illumina HiSeq 73 29 44 0 ENST00000396056.2:c.1263C>T p.Ser421= p.S421= ENST00000396056 NM_003420.3 421 agC/agT 0 -ZNF394 UCSF GRCh37 7 99092124 99092124 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 122 53 92 0 ENST00000337673.6:c.714C>T p.Thr238= p.T238= ENST00000337673 NM_032164.2 238 acC/acT 0 -ZNF407 UCSF GRCh37 18 72347340 72347340 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 103 65 85 0 ENST00000299687.5:c.4365C>T p.Thr1455= p.T1455= ENST00000299687 NM_017757.2 1455 acC/acT 0 -ZNF415 UCSF GRCh37 19 53612377 53612377 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 85 38 78 0 ENST00000500065.4:c.921G>A p.Lys307= p.K307= ENST00000500065 NM_001136038.2 307 aaG/aaA 0 -ZNF441 UCSF GRCh37 19 11890937 11890937 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 74 46 100 0 ENST00000357901.4:c.298G>A p.Val100Ile p.V100I ENST00000357901 NM_152355.2 100 Gta/Ata 0 -ZNF441 UCSF GRCh37 19 11891501 11891501 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 134 61 135 0 ENST00000357901.4:c.862G>A p.Ala288Thr p.A288T ENST00000357901 NM_152355.2 288 Gca/Aca 0 -ZNF442 UCSF GRCh37 19 12461660 12461660 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 204 123 241 0 ENST00000242804.4:c.739C>T p.Pro247Ser p.P247S ENST00000242804 NM_030824.2 247 Cct/Tct 0 -ZNF467 UCSF GRCh37 7 149467538 149467538 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 50 16 30 0 ENST00000302017.3:c.142G>A p.Val48Met p.V48M ENST00000302017 NM_207336.1 48 Gtg/Atg 0 -ZNF467 UCSF GRCh37 7 149462662 149462662 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 49 10 8 0 ENST00000302017.3:c.929C>T p.Thr310Met p.T310M ENST00000302017 NM_207336.1 310 aCg/aTg 0 -ZNF48 UCSF GRCh37 16 30409098 30409098 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 64 46 36 0 ENST00000320159.2:c.527G>A p.Gly176Asp p.G176D ENST00000320159 NM_152652.2 176 gGt/gAt 0 -ZNF490 UCSF GRCh37 19 12692278 12692278 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 120 60 133 0 ENST00000311437.6:c.611C>T p.Thr204Ile p.T204I ENST00000311437 NM_020714.2 204 aCt/aTt 0 -ZNF490 UCSF GRCh37 19 12692468 12692468 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 83 60 99 0 ENST00000311437.6:c.421C>T p.Pro141Ser p.P141S ENST00000311437 NM_020714.2 141 Cct/Tct 0 -ZNF506 UCSF GRCh37 19 19917874 19917874 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 159 95 135 0 ENST00000443905.2:c.7C>T p.Pro3Ser p.P3S ENST00000443905 3 Cca/Tca 0 -ZNF532 UCSF GRCh37 18 56651271 56651271 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 48 80 0 ENST00000336078.4:c.3479C>T p.Thr1160Ile p.T1160I ENST00000336078 NM_018181.4 1160 aCt/aTt 0 -ZNF536 UCSF GRCh37 19 30936483 30936483 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 78 54 21 0 ENST00000355537.3:c.2014C>T p.Arg672Cys p.R672C ENST00000355537 NM_014717.1 672 Cgt/Tgt 0 -ZNF536 UCSF GRCh37 19 30935391 30935391 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 184 93 67 0 ENST00000355537.3:c.922G>A p.Ala308Thr p.A308T ENST00000355537 NM_014717.1 308 Gcg/Acg 0 -ZNF541 UCSF GRCh37 19 48047518 48047518 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 35 28 14 0 ENST00000314121.4:c.2268C>T p.Gly756= p.G756= ENST00000314121 756 ggC/ggT 0 -ZNF554 UCSF GRCh37 19 2834574 2834574 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 55 25 75 0 ENST00000317243.5:c.1341C>T p.Asp447= p.D447= ENST00000317243 NM_001102651.1 447 gaC/gaT 0 -ZNF557 UCSF GRCh37 19 7083018 7083018 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 65 35 81 0 ENST00000414706.1:c.556G>A p.Gly186Arg p.G186R ENST00000414706 NM_024341.2 186 Ggg/Agg 0 -ZNF560 UCSF GRCh37 19 9577475 9577475 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 116 63 153 0 ENST00000301480.4:c.2148C>T p.Asp716= p.D716= ENST00000301480 NM_152476.2 716 gaC/gaT 0 -ZNF561 UCSF GRCh37 19 9727769 9727769 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 125 62 144 0 ENST00000302851.3:c.193C>T p.Leu65Phe p.L65F ENST00000302851 NM_152289.2 65 Ctc/Ttc 0 -ZNF585B UCSF GRCh37 19 37677650 37677650 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 146 83 137 0 ENST00000532828.2:c.789C>T p.Ile263= p.I263= ENST00000532828 NM_152279.3 263 atC/atT 0 -ZNF615 UCSF GRCh37 19 52497163 52497163 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 81 41 78 0 ENST00000594083.1:c.1199C>T p.Thr400Ile p.T400I ENST00000594083 400 aCa/aTa 0 -ZNF620 UCSF GRCh37 3 40557693 40557693 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 90 28 69 0 ENST00000314529.6:c.608G>A p.Arg203Lys p.R203K ENST00000314529 NM_175888.3 203 aGa/aAa 0 -ZNF620 UCSF GRCh37 3 40557846 40557846 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 116 33 88 0 ENST00000314529.6:c.761G>A p.Cys254Tyr p.C254Y ENST00000314529 NM_175888.3 254 tGt/tAt 0 -ZNF624 UCSF GRCh37 17 16527505 16527505 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 88 56 76 0 ENST00000311331.7:c.695C>T p.Thr232Ile p.T232I ENST00000311331 NM_020787.3 232 aCa/aTa 0 -ZNF626 UCSF GRCh37 19 20829188 20829188 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 162 99 165 0 ENST00000601440.1:c.27G>A p.Val9= p.V9= ENST00000601440 NM_001076675.2 9 gtG/gtA 0 -ZNF644 UCSF GRCh37 1 91404482 91404482 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 100 45 95 0 ENST00000370440.1:c.2429G>A p.Arg810Lys p.R810K ENST00000370440 810 aGa/aAa 0 -ZNF648 UCSF GRCh37 1 182026564 182026564 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 34 23 15 0 ENST00000339948.3:c.582G>A p.Arg194= p.R194= ENST00000339948 NM_001009992.1 194 agG/agA 0 -ZNF648 UCSF GRCh37 1 182026690 182026690 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 68 39 45 0 ENST00000339948.3:c.456C>T p.Tyr152= p.Y152= ENST00000339948 NM_001009992.1 152 taC/taT 0 -ZNF653 UCSF GRCh37 19 11597911 11597911 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 90 45 46 0 ENST00000293771.5:c.1234G>A p.Ala412Thr p.A412T ENST00000293771 NM_138783.3 412 Gca/Aca 0 -ZNF707 UCSF GRCh37 8 144773782 144773782 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 26 16 18 0 ENST00000532205.1:c.155C>T p.Pro52Leu p.P52L ENST00000532205 NM_001288805.1 52 cCc/cTc 0 -ZNF709 UCSF GRCh37 19 12576377 12576377 + missense_variant Missense_Mutation SNP T T C NOVEL P05_Rec Untested WXS Illumina HiSeq 101 44 95 0 ENST00000397732.3:c.359A>G p.His120Arg p.H120R ENST00000397732 NM_152601.3 120 cAc/cGc 0 -ZNF729 UCSF GRCh37 19 22498434 22498434 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 147 104 115 0 ENST00000601693.1:c.2215C>T p.Pro739Ser p.P739S ENST00000601693 739 Ccc/Tcc 0 -ZNF778 UCSF GRCh37 16 89294111 89294111 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 191 79 152 0 ENST00000433976.2:c.1331C>T p.Thr444Ile p.T444I ENST00000433976 NM_001201407.1 444 aCt/aTt 0 -ZNF780A UCSF GRCh37 19 40581410 40581410 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 254 137 214 0 ENST00000455521.1:c.942C>T p.Ala314= p.A314= ENST00000455521 NM_001142577.1 314 gcC/gcT 0 -ZNF813 UCSF GRCh37 19 53994800 53994800 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 144 102 197 0 ENST00000396403.4:c.1314C>T p.Pro438= p.P438= ENST00000396403 NM_001004301.3 438 ccC/ccT 0 -ZNF831 UCSF GRCh37 20 57767550 57767550 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 46 29 25 0 ENST00000371030.2:c.1476C>T p.Leu492= p.L492= ENST00000371030 NM_178457.2 492 ctC/ctT 0 -ZNF831 UCSF GRCh37 20 57829381 57829381 + synonymous_variant Silent SNP A A G NOVEL P05_Rec Untested WXS Illumina HiSeq 42 27 55 0 ENST00000371030.2:c.4617A>G p.Ala1539= p.A1539= ENST00000371030 NM_178457.2 1539 gcA/gcG 0 -ZNF836 UCSF GRCh37 19 52658807 52658807 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 174 96 148 0 ENST00000322146.8:c.2129C>T p.Ala710Val p.A710V ENST00000322146 NM_001102657.1 710 gCa/gTa 0 -ZNF837 UCSF GRCh37 19 58879530 58879530 + synonymous_variant Silent SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 11 7 10 0 ENST00000427624.2:c.1170C>T p.Pro390= p.P390= ENST00000427624 390 ccC/ccT 0 -ZNF862 UCSF GRCh37 7 149558563 149558563 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 66 34 29 0 ENST00000223210.4:c.2314G>A p.Ala772Thr p.A772T ENST00000223210 NM_001099220.1 772 Gcg/Acg 0 -ZNHIT2 UCSF GRCh37 11 64884272 64884272 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 65 28 19 0 ENST00000310597.4:c.854G>A p.Gly285Glu p.G285E ENST00000310597 NM_014205.2 285 gGg/gAg 0 -ZPBP UCSF GRCh37 7 49977150 49977150 + missense_variant Missense_Mutation SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 105 30 61 0 ENST00000046087.2:c.1030G>A p.Val344Met p.V344M ENST00000046087 NM_007009.2 344 Gtg/Atg 0 -ZPBP2 UCSF GRCh37 17 38028615 38028615 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 52 25 41 0 ENST00000348931.4:c.499C>T p.Leu167= p.L167= ENST00000348931 NM_199321.2 167 Ctg/Ttg 0 -ZSCAN10 UCSF GRCh37 16 3142594 3142594 + synonymous_variant Silent SNP C C T NOVEL P05_Rec Untested WXS Illumina HiSeq 23 12 12 0 ENST00000252463.2:c.180G>A p.Val60= p.V60= ENST00000252463 NM_032805.1 60 gtG/gtA 0 -ZSCAN21 UCSF GRCh37 7 99662011 99662011 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 99 22 68 0 ENST00000292450.4:c.1193G>A p.Ser398Asn p.S398N ENST00000292450 NM_145914.2 398 aGt/aAt 0 -ZSCAN5A UCSF GRCh37 19 56733035 56733035 + missense_variant Missense_Mutation SNP G G A NOVEL P05_Rec Untested WXS Illumina HiSeq 36 61 101 0 ENST00000587340.1:c.1400C>T p.Pro467Leu p.P467L ENST00000587340 467 cCc/cTc 0 -FAM22G UCSF GRCh37 9 99697718 99697718 + synonymous_variant Silent SNP T T C snp132_rs2479289 P06_Pri Untested WXS Illumina HiSeq 24 5 27 1 ENST00000372322.3:c.822T>C p.Ile274= p.I274= ENST00000372322 NM_001170741.1 274 atT/atC 0 -GZMH UCSF GRCh37 14 25076836 25076836 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.053,snp132_rs41469548 P06_Pri Untested WXS Illumina HiSeq 28 7 53 1 ENST00000216338.4:c.321C>T p.Asn107= p.N107= ENST00000216338 NM_033423.4 107 aaC/aaT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P06_Pri Untested WXS Illumina HiSeq 40 13 45 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -RFPL1 UCSF GRCh37 22 29837847 29837847 + synonymous_variant Silent SNP G G C 1000g2010nov_all_0.077,snp132_rs61734564 P06_Pri Untested WXS Illumina HiSeq 27 6 35 1 ENST00000354373.2:c.690G>C p.Thr230= p.T230= ENST00000354373 NM_021026.2 230 acG/acC 0 -APOB UCSF GRCh37 2 21241986 21241986 + splice_acceptor_variant Splice_Site SNP C C A NOVEL P06_Rec Untested WXS Illumina HiSeq 74 9 82 0 ENST00000233242.1:c.3000-1G>T p.X1000_splice ENST00000233242 NM_000384.2 0 -ATRX UCSF GRCh37 X 76875862 76875865 + splice_donor_variant,coding_sequence_variant Splice_Site DEL CACT CACT - NOVEL P06_Rec Untested WXS Illumina HiSeq 46 0 ENST00000373344.5:c.5270_5272+1del p.X1757_splice ENST00000373344 NM_000489.3 1757 0 -CFTR UCSF GRCh37 7 117188850 117188850 + synonymous_variant Silent SNP G G T snp132_rs79074685 P06_Rec Untested WXS Illumina HiSeq 32 5 20 1 ENST00000003084.6:c.1365G>T p.Ala455= p.A455= ENST00000003084 NM_000492.3 455 gcG/gcT 0 -DNAJB4 UCSF GRCh37 1 78479131 78479131 + missense_variant Missense_Mutation SNP A A G NOVEL P06_Rec Untested WXS Illumina HiSeq 72 36 96 0 ENST00000370763.5:c.608A>G p.Glu203Gly p.E203G ENST00000370763 NM_007034.3 203 gAg/gGg 0 -DSC1 UCSF GRCh37 18 28734746 28734746 + synonymous_variant Silent SNP T T C NOVEL P06_Rec Untested WXS Illumina HiSeq 36 7 50 0 ENST00000257198.5:c.618A>G p.Glu206= p.E206= ENST00000257198 NM_024421.2 206 gaA/gaG 0 -GRIN2A UCSF GRCh37 16 9984911 9984911 + stop_gained Nonsense_Mutation SNP C C A NOVEL P06_Rec Untested WXS Illumina HiSeq 75 13 105 0 ENST00000330684.3:c.1054G>T p.Glu352Ter p.E352* ENST00000330684 NM_001134407.1 352 Gag/Tag 0 -GSN UCSF GRCh37 9 124089724 124089724 + missense_variant Missense_Mutation SNP G G A NOVEL P06_Rec Untested WXS Illumina HiSeq 8 6 10 0 ENST00000373818.4:c.1879G>A p.Ala627Thr p.A627T ENST00000373818 NM_000177.4 627 Gcc/Acc 0 -HEPHL1 UCSF GRCh37 11 93844875 93844875 + missense_variant Missense_Mutation SNP C C A NOVEL P06_Rec Untested WXS Illumina HiSeq 84 44 129 0 ENST00000315765.9:c.3295C>A p.Gln1099Lys p.Q1099K ENST00000315765 NM_001098672.1 1099 Cag/Aag 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P06_Rec Untested WXS Illumina HiSeq 29 21 45 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KLHL4 UCSF GRCh37 X 86888751 86888751 + missense_variant,splice_region_variant Missense_Mutation SNP G G T NOVEL P06_Rec Untested WXS Illumina HiSeq 27 4 28 1 ENST00000373114.4:c.1552G>T p.Val518Leu p.V518L ENST00000373114 NM_057162.2 518 Gta/Tta 0 -LARS UCSF GRCh37 5 145529208 145529208 + missense_variant Missense_Mutation SNP T T C NOVEL P06_Rec Untested WXS Illumina HiSeq 107 50 174 0 ENST00000394434.2:c.1480A>G p.Ile494Val p.I494V ENST00000394434 NM_020117.9 494 Att/Gtt 0 -LILRB1 UCSF GRCh37 19 55144532 55144532 + missense_variant Missense_Mutation SNP G G A NOVEL P06_Rec Untested WXS Illumina HiSeq 23 9 34 0 ENST00000324602.7:c.1024G>A p.Val342Met p.V342M ENST00000324602 NM_001278399.1 342 Gtg/Atg 0 -PKHD1 UCSF GRCh37 6 51612824 51612824 + missense_variant Missense_Mutation SNP T T C NOVEL P06_Rec Untested WXS Illumina HiSeq 81 40 143 0 ENST00000371117.3:c.9590A>G p.Gln3197Arg p.Q3197R ENST00000371117 NM_138694.3 3197 cAg/cGg 0 -RHOA UCSF GRCh37 3 49405899 49405899 + missense_variant Missense_Mutation SNP A A G NOVEL P06_Rec Untested WXS Illumina HiSeq 47 15 70 0 ENST00000418115.1:c.239T>C p.Ile80Thr p.I80T ENST00000418115 NM_001664.2 80 aTa/aCa 0 -SKA3 UCSF GRCh37 13 21746601 21746601 + frameshift_variant Frame_Shift_Del DEL G G - 1000g2010nov_all P06_Rec Untested WXS Illumina HiSeq 6 0 ENST00000314759.5:c.208delC p.Gln70LysfsTer7 p.Q70Kfs*7 ENST00000314759 NM_145061.5 70 Caa/aa 0 -SLC26A4 UCSF GRCh37 7 107329599 107329599 + missense_variant Missense_Mutation SNP G G A NOVEL P06_Rec Untested WXS Illumina HiSeq 46 21 80 0 ENST00000265715.3:c.1103G>A p.Gly368Glu p.G368E ENST00000265715 NM_000441.1 368 gGa/gAa 0 -SOX6 UCSF GRCh37 11 16007844 16007844 + missense_variant Missense_Mutation SNP T T C NOVEL P06_Rec Untested WXS Illumina HiSeq 99 13 101 0 ENST00000396356.3:c.2029A>G p.Thr677Ala p.T677A ENST00000396356 NM_033326.3 677 Acc/Gcc 0 -TP53 UCSF GRCh37 17 7577120 7577120 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.000,snp132_rs28934576 P06_Rec somatic WXS Sanger Illumina HiSeq 3 18 27 0 ENST00000269305.4:c.818G>A p.Arg273His p.R273H ENST00000269305 NM_001126112.2 273 cGt/cAt 0 -UBQLNL UCSF GRCh37 11 5537008 5537008 + missense_variant Missense_Mutation SNP G G C NOVEL P06_Rec Untested WXS Illumina HiSeq 79 42 112 0 ENST00000380184.1:c.664C>G p.Leu222Val p.L222V ENST00000380184 NM_145053.4 222 Cta/Gta 0 -ULK2 UCSF GRCh37 17 19729500 19729500 + splice_acceptor_variant Splice_Site SNP C C G NOVEL P06_Rec Untested WXS Illumina HiSeq 32 23 65 0 ENST00000395544.4:c.788-1G>C p.X263_splice ENST00000395544 NM_014683.3 0 -ZIC5 UCSF GRCh37 13 100617663 100617663 + missense_variant Missense_Mutation SNP C C T NOVEL P06_Rec Untested WXS Illumina HiSeq 21 6 21 0 ENST00000267294.4:c.1960G>A p.Gly654Arg p.G654R ENST00000267294 NM_033132.3 654 Ggg/Agg 0 -ZNF283 UCSF GRCh37 19 44352107 44352107 + missense_variant Missense_Mutation SNP A A G NOVEL P06_Rec Untested WXS Illumina HiSeq 139 57 166 0 ENST00000324461.7:c.1354A>G p.Ile452Val p.I452V ENST00000324461 NM_181845.1 452 Atc/Gtc 0 -AGAP1 UCSF GRCh37 2 237028849 237028849 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 94 13 49 0 ENST00000304032.8:c.2128C>T p.Arg710Trp p.R710W ENST00000304032 NM_001037131.2 710 Cgg/Tgg 0 -ALOX15 UCSF GRCh37 17 4542894 4542894 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.047,snp132_rs3894312 P07_Pri Untested WXS Illumina HiSeq 80 9 45 1 ENST00000570836.1:c.168T>C p.Tyr56= p.Y56= ENST00000570836 56 taT/taC 0 -ANK2 UCSF GRCh37 4 114213580 114213580 + stop_gained Nonsense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 12 5 19 0 ENST00000357077.4:c.2286C>A p.Tyr762Ter p.Y762* ENST00000357077 NM_001148.4 762 taC/taA 0 -AP2A2 UCSF GRCh37 11 1009101 1009101 + missense_variant,splice_region_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 33 20 48 1 ENST00000448903.2:c.2422T>G p.Tyr808Asp p.Y808D ENST00000448903 NM_012305.3 808 Tat/Gat 0 -ARNT UCSF GRCh37 1 150801579 150801579 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 76 13 113 0 ENST00000358595.5:c.1157A>C p.Tyr386Ser p.Y386S ENST00000358595 NM_178427.2 386 tAc/tCc 0 -ASPM UCSF GRCh37 1 197097775 197097775 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 92 16 115 0 ENST00000367409.4:c.2781G>T p.Leu927Phe p.L927F ENST00000367409 NM_018136.4 927 ttG/ttT 0 -ASPM UCSF GRCh37 1 197097791 197097791 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 66 27 100 0 ENST00000367409.4:c.2765G>A p.Ser922Asn p.S922N ENST00000367409 NM_018136.4 922 aGt/aAt 0 -ATAD3A UCSF GRCh37 1 1451415 1451415 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 38 31 64 0 ENST00000378755.5:c.229C>G p.Leu77Val p.L77V ENST00000378755 NM_018188.3 77 Ctg/Gtg 0 -ATP6V1A UCSF GRCh37 3 113508669 113508669 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 82 11 86 0 ENST00000273398.3:c.970G>A p.Glu324Lys p.E324K ENST00000273398 NM_001690.3 324 Gaa/Aaa 0 -ATRX UCSF GRCh37 X 76912145 76912145 + splice_acceptor_variant Splice_Site SNP T T C NOVEL P07_Pri somatic WXS Sanger Illumina HiSeq 41 15 56 0 ENST00000373344.5:c.4121-2A>G p.X1374_splice ENST00000373344 NM_000489.3 0 -ATRX UCSF GRCh37 X 76937485 76937485 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 78 86 83 0 ENST00000373344.5:c.3263G>C p.Gly1088Ala p.G1088A ENST00000373344 NM_000489.3 1088 gGt/gCt 0 -ATRX UCSF GRCh37 X 76937487 76937487 + stop_gained Nonsense_Mutation SNP A A T NOVEL P07_Pri Untested WXS Illumina HiSeq 77 87 83 0 ENST00000373344.5:c.3261T>A p.Tyr1087Ter p.Y1087* ENST00000373344 NM_000489.3 1087 taT/taA 0 -ATRX UCSF GRCh37 X 76937376 76937376 + synonymous_variant Silent SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 77 99 112 0 ENST00000373344.5:c.3372T>C p.Ser1124= p.S1124= ENST00000373344 NM_000489.3 1124 tcT/tcC 0 -BMF UCSF GRCh37 15 40396521 40396521 + missense_variant Missense_Mutation SNP G G A snp132_rs77642791 P07_Pri Untested WXS Illumina HiSeq 95 20 117 0 ENST00000354670.4:c.313C>T p.Pro105Ser p.P105S ENST00000354670 NM_001003940.1 105 Cct/Tct 0 -C15orf17 UCSF GRCh37 15 75194971 75194971 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 91 12 103 0 ENST00000357635.5:c.586A>C p.Thr196Pro p.T196P ENST00000357635 NM_020447.3 196 Acc/Ccc 0 -C1orf172 UCSF GRCh37 1 27276560 27276560 + stop_lost Nonstop_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 31 5 42 0 ENST00000320567.5:c.1197A>C p.Ter399TyrextTer19 p.*399Yext*19 ENST00000320567 NM_152365.2 399 taA/taC 0 -C2orf65 UCSF GRCh37 2 74787345 74787345 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri somatic WXS Sanger Illumina HiSeq 38 26 51 0 ENST00000290536.5:c.1355T>G p.Leu452Arg p.L452R ENST00000290536 NM_138804.4 452 cTg/cGg 0 -C3 UCSF GRCh37 19 6697740 6697740 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 68 10 62 0 ENST00000245907.6:c.2506C>A p.Pro836Thr p.P836T ENST00000245907 NM_000064.2 836 Ccc/Acc 0 -C8orf80 UCSF GRCh37 8 27903051 27903051 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 128 28 106 0 ENST00000413272.2:c.1439A>C p.Asn480Thr p.N480T ENST00000413272 NM_001010906.1 480 aAc/aCc 0 -CAMT-ND1 UCSF GRCh37 12 67675701 67675701 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 111 16 102 0 ENST00000545606.1:c.80C>A p.Thr27Lys p.T27K ENST00000545606 NM_018448.3 27 aCa/aAa 0 -CBLL1 UCSF GRCh37 7 107399173 107399176 + protein_altering_variant In_Frame_Del DEL ACCA ACCA C NOVEL P07_Pri Untested WXS Illumina HiSeq 6 0 ENST00000440859.3:c.1026_1029delinsC p.Pro350del p.P350del ENST00000440859 NM_024814.2 342 gcACCA/gcC 0 -CCDC27 UCSF GRCh37 1 3680383 3680383 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 20 7 41 0 ENST00000294600.2:c.1435C>A p.Gln479Lys p.Q479K ENST00000294600 NM_152492.2 479 Caa/Aaa 0 -CHRNA2 UCSF GRCh37 8 27327497 27327497 + splice_region_variant,synonymous_variant Splice_Region SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 29 19 41 1 ENST00000407991.1:c.75T>G p.Gly25= p.G25= ENST00000407991 NM_000742.3 25 ggT/ggG 0 -CNTLN UCSF GRCh37 9 17486994 17486995 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P07_Pri Untested WXS Illumina HiSeq 25 0 ENST00000380647.3:c.4054dup p.Thr1352AsnfsTer4 p.T1352Nfs*4 ENST00000380647 1350 gaa/gaAa 0 -COIL UCSF GRCh37 17 55028118 55028119 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P07_Pri Untested WXS Illumina HiSeq 7 0 ENST00000240316.4:c.485dup p.Asn162LysfsTer6 p.N162Kfs*6 ENST00000240316 NM_004645.2 162 aac/aAac 0 -COL5A1 UCSF GRCh37 9 137642705 137642705 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 13 7 20 1 ENST00000371817.3:c.1639C>A p.Gln547Lys p.Q547K ENST00000371817 NM_001278074.1 547 Caa/Aaa 0 -CPNE3 UCSF GRCh37 8 87563330 87563330 + splice_donor_variant Splice_Site SNP T T G 1000g2011may_all_0.0465 P07_Pri Untested WXS Illumina HiSeq 56 35 103 1 ENST00000521271.1:c.1068+2T>G p.X356_splice ENST00000521271 NM_003909.3 0 -CYP26B1 UCSF GRCh37 2 72359514 72359514 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 17 7 31 2 ENST00000001146.2:c.1381A>C p.Thr461Pro p.T461P ENST00000001146 NM_019885.3 461 Acc/Ccc 0 -DDX26B UCSF GRCh37 X 134703307 134703307 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 59 75 81 0 ENST00000370752.4:c.1238G>A p.Arg413Gln p.R413Q ENST00000370752 NM_182540.4 413 cGa/cAa 0 -DEFB126 UCSF GRCh37 20 126310 126311 + frameshift_variant Frame_Shift_Del DEL AC AC - NOVEL P07_Pri Untested WXS Illumina HiSeq 9 0 ENST00000382398.3:c.313_314del p.Thr105ProfsTer? p.T105Pfs*? ENST00000382398 NM_030931.3 105 ACc/c 0 -DIXDC1 UCSF GRCh37 11 111853109 111853109 + frameshift_variant,splice_region_variant Frame_Shift_Ins INS T T CC NOVEL P07_Pri Untested WXS Illumina HiSeq 6 0 ENST00000440460.2:c.813delinsCC p.Gly272ArgfsTer44 p.G272Rfs*44 ENST00000440460 NM_001037954.3 271 ccT/ccCC 0 -DLEC1 UCSF GRCh37 3 38162039 38162040 + frameshift_variant Frame_Shift_Del DEL GA GA - 1000g2010nov_all P07_Pri Untested WXS Illumina HiSeq 6 0 ENST00000308059.6:c.4815_4816del p.Glu1605AspfsTer29 p.E1605Dfs*29 ENST00000308059 1602 gGA/g 0 -DNM1 UCSF GRCh37 9 131009679 131009679 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 22 6 24 0 ENST00000372923.3:c.1807C>G p.Leu603Val p.L603V ENST00000372923 NM_004408.2 603 Ctg/Gtg 0 -DTX2 UCSF GRCh37 7 76131644 76131644 + synonymous_variant Silent SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 47 6 18 0 ENST00000324432.5:c.1260C>T p.Ser420= p.S420= ENST00000324432 NM_020892.2 420 tcC/tcT 0 -DYRK1B UCSF GRCh37 19 40316909 40316909 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 47 11 64 0 ENST00000593685.1:c.1429T>C p.Ser477Pro p.S477P ENST00000593685 477 Tcc/Ccc 0 -EML6 UCSF GRCh37 2 55177866 55177866 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 139 23 83 1 ENST00000356458.6:c.4163A>G p.Asp1388Gly p.D1388G ENST00000356458 NM_001039753.2 1388 gAc/gGc 0 -ERAL1 UCSF GRCh37 17 27182065 27182065 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 30 6 52 0 ENST00000254928.5:c.13A>C p.Ser5Arg p.S5R ENST00000254928 NM_005702.2 5 Agc/Cgc 0 -ERBB2IP UCSF GRCh37 5 65374262 65374262 + stop_gained Nonsense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 82 21 100 0 ENST00000506030.1:c.4164C>A p.Tyr1388Ter p.Y1388* ENST00000506030 1388 taC/taA 0 -EXD3 UCSF GRCh37 9 140289784 140289784 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 18 4 25 0 ENST00000340951.4:c.26A>C p.Asp9Ala p.D9A ENST00000340951 NM_017820.3 9 gAc/gCc 0 -FAM53B UCSF GRCh37 10 126311912 126311912 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 16 6 37 0 ENST00000337318.3:c.1168A>G p.Arg390Gly p.R390G ENST00000337318 NM_014661.3 390 Aga/Gga 0 -FCER1A UCSF GRCh37 1 159275786 159275786 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 86 17 115 0 ENST00000368115.1:c.340C>G p.Leu114Val p.L114V ENST00000368115 NM_002001.3 114 Ctc/Gtc 0 -FLNA UCSF GRCh37 X 153579992 153579992 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 25 4 25 0 ENST00000369850.3:c.6980C>T p.Ser2327Phe p.S2327F ENST00000369850 NM_001110556.1 2327 tCt/tTt 0 -FLT4 UCSF GRCh37 5 180058762 180058762 + stop_gained Nonsense_Mutation SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 22 5 29 0 ENST00000261937.6:c.75C>A p.Tyr25Ter p.Y25* ENST00000261937 NM_182925.4 25 taC/taA 0 -FMN1 UCSF GRCh37 15 33261341 33261341 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 53 39 70 1 ENST00000334528.9:c.1892T>C p.Leu631Pro p.L631P ENST00000334528 NM_001103184.3 631 cTc/cCc 0 -GCLM UCSF GRCh37 1 94354629 94354629 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 83 10 104 0 ENST00000370238.3:c.742C>A p.Leu248Met p.L248M ENST00000370238 NM_002061.2 248 Ctg/Atg 0 -GGT1 UCSF GRCh37 22 25011077 25011077 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 53 8 45 0 ENST00000400382.1:c.365C>T p.Ser122Leu p.S122L ENST00000400382 NM_001288833.1 122 tCg/tTg 0 -GGT1 UCSF GRCh37 22 25011062 25011062 + missense_variant Missense_Mutation SNP C C G 1000g2010nov_all_0.010 P07_Pri Untested WXS Illumina HiSeq 66 9 46 1 ENST00000400382.1:c.350C>G p.Thr117Ser p.T117S ENST00000400382 NM_001288833.1 117 aCc/aGc 0 -GGTLC2 UCSF GRCh37 22 22988913 22988913 + missense_variant Missense_Mutation SNP T T A 1000g2011may_all_0.0159,snp132_rs71316771 P07_Pri Untested WXS Illumina HiSeq 26 6 16 0 ENST00000480559.1:c.98T>A p.Val33Asp p.V33D ENST00000480559 NM_199127.2 33 gTt/gAt 0 -GGTLC2 UCSF GRCh37 22 22988917 22988917 + synonymous_variant Silent SNP T T C 1000g2011may_all_0.0094,snp132_rs71316772 P07_Pri Untested WXS Illumina HiSeq 27 6 16 0 ENST00000480559.1:c.102T>C p.Asp34= p.D34= ENST00000480559 NM_199127.2 34 gaT/gaC 0 -GIGYF1 UCSF GRCh37 7 100285167 100285167 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri somatic WXS Sanger Illumina HiSeq 67 36 72 0 ENST00000275732.5:c.334G>C p.Ala112Pro p.A112P ENST00000275732 NM_022574.4 112 Gct/Cct 0 -GIMAP8 UCSF GRCh37 7 150167961 150167961 + missense_variant,splice_region_variant Missense_Mutation SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 77 26 61 0 ENST00000307271.3:c.681G>T p.Gln227His p.Q227H ENST00000307271 NM_175571.2 227 caG/caT 0 -GPHB5 UCSF GRCh37 14 63784413 63784414 + non_coding_transcript_exon_variant RNA INS - - C NOVEL P07_Pri Untested WXS Illumina HiSeq 8 0 ENST00000539258.1:n.207_208insG *69* ENST00000539258 0 -GRXCR1 UCSF GRCh37 4 43032401 43032401 + synonymous_variant Silent SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 135 87 120 0 ENST00000399770.2:c.717T>C p.Cys239= p.C239= ENST00000399770 NM_001080476.2 239 tgT/tgC 0 -GSTP1 UCSF GRCh37 11 67352019 67352019 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 37 10 50 0 ENST00000398606.3:c.122A>G p.Glu41Gly p.E41G ENST00000398606 NM_000852.3 41 gAg/gGg 0 -HS6ST1 UCSF GRCh37 2 129025758 129025758 + missense_variant Missense_Mutation SNP C C A 1000g2010nov_all_0.135 P07_Pri Untested WXS Illumina HiSeq 53 7 33 1 ENST00000259241.6:c.1214G>T p.Ser405Ile p.S405I ENST00000259241 NM_004807.2 405 aGc/aTc 0 -HSF1 UCSF GRCh37 8 145534883 145534883 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 21 6 28 1 ENST00000528838.1:c.512A>G p.Glu171Gly p.E171G ENST00000528838 NM_005526.2 171 gAg/gGg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 87 57 98 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGFN1 UCSF GRCh37 1 201190723 201190723 + synonymous_variant Silent SNP G G C NOVEL P07_Pri Untested WXS Illumina HiSeq 40 7 39 0 ENST00000335211.4:c.10050G>C p.Pro3350= p.P3350= ENST00000335211 NM_001164586.1 3350 ccG/ccC 0 -ILK UCSF GRCh37 11 6629291 6629291 + synonymous_variant Silent SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 63 13 94 0 ENST00000396751.2:c.105C>T p.Phe35= p.F35= ENST00000396751 NM_001014795.2 35 ttC/ttT 0 -IPO5 UCSF GRCh37 13 98637679 98637679 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 119 20 118 0 ENST00000261574.5:c.230G>A p.Arg77Lys p.R77K ENST00000261574 NM_002271.4 77 aGa/aAa 0 -JAG2 UCSF GRCh37 14 105615535 105615535 + synonymous_variant Silent SNP G G C NOVEL P07_Pri Untested WXS Illumina HiSeq 40 10 36 1 ENST00000331782.3:c.1725C>G p.Arg575= p.R575= ENST00000331782 NM_002226.4 575 cgC/cgG 0 -KDM3A UCSF GRCh37 2 86678324 86678324 + synonymous_variant Silent SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 74 9 81 0 ENST00000409556.1:c.441G>A p.Leu147= p.L147= ENST00000409556 147 ttG/ttA 0 -KIAA1267 UCSF GRCh37 17 44144000 44144002 + inframe_deletion In_Frame_Del DEL GAT GAT - NOVEL P07_Pri Untested WXS Illumina HiSeq 8 0 ENST00000262419.6:c.1749_1751del p.Ser584del p.S584del ENST00000262419 NM_001193466.1 583 tcATCt/tct 0 -KIR2DL3 UCSF GRCh37 19 55263934 55263978 + stop_lost,3_prime_UTR_variant Nonstop_Mutation DEL TCATCGTGTACACGGAACTTCCAAATGCTGAGCCCTGATCCAAAG TCATCGTGTACACGGAACTTCCAAATGCTGAGCCCTGATCCAAAG CCACCATGTACATGGAACTTCCAAATGCTAAGCCAAGATCA NOVEL P07_Pri Untested WXS Illumina HiSeq 6 0 ENST00000342376.3:c.989_*7delinsCCACCATGTACATGGAACTTCCAAATGCTAAGCCAAGATCA *330* ENST00000342376 NM_015868.2 330 0 -KLHDC10 UCSF GRCh37 7 129765709 129765709 + missense_variant Missense_Mutation SNP A A T NOVEL P07_Pri Untested WXS Illumina HiSeq 71 32 20 0 ENST00000335420.5:c.869A>T p.His290Leu p.H290L ENST00000335420 NM_014997.3 290 cAt/cTt 0 -KLHL30 UCSF GRCh37 2 239049934 239049934 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 22 4 17 0 ENST00000409223.1:c.539T>G p.Val180Gly p.V180G ENST00000409223 180 gTc/gGc 0 -LAMA2 UCSF GRCh37 6 129824352 129824352 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 137 17 106 0 ENST00000421865.2:c.8474T>C p.Phe2825Ser p.F2825S ENST00000421865 NM_001079823.1 2825 tTc/tCc 0 -LRBA UCSF GRCh37 4 151935787 151935787 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 17 5 39 0 ENST00000357115.3:c.8G>A p.Ser3Asn p.S3N ENST00000357115 NM_006726.4 3 aGc/aAc 0 -LRIT2 UCSF GRCh37 10 85985269 85985269 + missense_variant Missense_Mutation SNP G G A snp132_rs79267836 P07_Pri Untested WXS Illumina HiSeq 78 19 80 0 ENST00000372113.4:c.8C>T p.Ser3Leu p.S3L ENST00000372113 NM_001017924.2 3 tCa/tTa 0 -LRP2 UCSF GRCh37 2 169993907 169993907 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 87 67 95 0 ENST00000263816.3:c.13615A>G p.Ile4539Val p.I4539V ENST00000263816 NM_004525.2 4539 Atc/Gtc 0 -MIS18BP1 UCSF GRCh37 14 45716019 45716020 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P07_Pri Untested WXS Illumina HiSeq 7 0 ENST00000310806.4:c.471dup p.Leu158IlefsTer8 p.L158Ifs*8 ENST00000310806 NM_018353.4 157 aaa/aaAa 0 -MLH3 UCSF GRCh37 14 75514620 75514623 + frameshift_variant Frame_Shift_Del DEL TCTG TCTG - NOVEL P07_Pri Untested WXS Illumina HiSeq 8 0 ENST00000355774.2:c.1736_1739del p.Thr579ArgfsTer30 p.T579Rfs*30 ENST00000355774 NM_001040108.1 579 aCAGAg/ag 0 -MMP16 UCSF GRCh37 8 89209512 89209512 + stop_gained Nonsense_Mutation SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 106 12 83 0 ENST00000286614.6:c.156C>A p.Tyr52Ter p.Y52* ENST00000286614 NM_005941.4 52 taC/taA 0 -MYEF2 UCSF GRCh37 15 48443702 48443702 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 203 81 142 0 ENST00000324324.7:c.1274A>G p.Asn425Ser p.N425S ENST00000324324 NM_016132.3 425 aAt/aGt 0 -NINJ2 UCSF GRCh37 12 772656 772656 + synonymous_variant Silent SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 94 14 105 0 ENST00000305108.4:c.9T>G p.Gly3= p.G3= ENST00000305108 NM_016533.4 3 ggT/ggG 0 -NIPA1 UCSF GRCh37 15 23060899 23060899 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 17 4 36 0 ENST00000337435.4:c.233T>G p.Val78Gly p.V78G ENST00000337435 NM_144599.4 78 gTt/gGt 0 -NLGN4Y UCSF GRCh37 Y 16942197 16942197 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 35 7 74 0 ENST00000355905.2:c.1399A>C p.Thr467Pro p.T467P ENST00000355905 NM_014893.4 467 Acc/Ccc 0 -NME6 UCSF GRCh37 3 48340012 48340012 + missense_variant,splice_region_variant Missense_Mutation SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 21 13 29 1 ENST00000421967.1:c.19A>G p.Ser7Gly p.S7G ENST00000421967 NM_005793.3 7 Agt/Ggt 0 -NTF4 UCSF GRCh37 19 49564944 49564944 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 19 9 33 1 ENST00000301411.3:c.311T>G p.Val104Gly p.V104G ENST00000301411 NM_006179.4 104 gTg/gGg 0 -NVL UCSF GRCh37 1 224455754 224455754 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 49 9 57 0 ENST00000281701.6:c.2164G>C p.Ala722Pro p.A722P ENST00000281701 NM_002533.3 722 Gca/Cca 0 -OAF UCSF GRCh37 11 120099649 120099649 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 22 14 32 1 ENST00000328965.4:c.620T>G p.Val207Gly p.V207G ENST00000328965 NM_178507.2 207 gTg/gGg 0 -PIEZO1 UCSF GRCh37 16 88786118 88786118 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 20 6 37 0 ENST00000301015.9:c.6335T>G p.Val2112Gly p.V2112G ENST00000301015 NM_001142864.2 2112 gTg/gGg 0 -PKHD1 UCSF GRCh37 6 51920409 51920409 + synonymous_variant Silent SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 57 13 75 0 ENST00000371117.3:c.1812C>T p.Gly604= p.G604= ENST00000371117 NM_138694.3 604 ggC/ggT 0 -PRKDC UCSF GRCh37 8 48866910 48866910 + frameshift_variant Frame_Shift_Del DEL T T - 1000g2010nov_all P07_Pri Untested WXS Illumina HiSeq 6 0 ENST00000314191.2:c.496del p.Ile166TyrfsTer6 p.I166Yfs*6 ENST00000314191 NM_006904.6 166 Ata/ta 0 -PRSS1 UCSF GRCh37 7 142460412 142460431 + coding_sequence_variant,intron_variant In_Frame_Del DEL ATGTCAGGTGATTTGACCAA ATGTCAGGTGATTTGACCAA CTGCCAGGTGATTTGAC NOVEL P07_Pri Untested WXS Illumina HiSeq 13 0 ENST00000311737.7:c.585_591+13delinsCTGCCAGGTGATTTGAC *195* ENST00000311737 NM_002769.4 195 0 -PRSS48 UCSF GRCh37 4 152201017 152201018 + frameshift_variant Frame_Shift_Ins INS - - GGCAG NOVEL P07_Pri Untested WXS Illumina HiSeq 9 0 ENST00000455694.2:c.123_124insGCAGG p.Gln42AlafsTer23 p.Q42Afs*23 ENST00000455694 NM_183375.2 41 tgg/tgGGCAGg 0 -PTPN3 UCSF GRCh37 9 112184987 112185008 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site INS GGAGGACATACCAGTTGGGAGT GGAGGACATACCAGTTGGGAGT AGGAGGACATACCAGGTGGGGGG NOVEL P07_Pri Untested WXS Illumina HiSeq 7 0 ENST00000374541.2:c.1126_1136+11delinsCCCCCCACCTGGTATGTCCTCCT p.X376_splice ENST00000374541 NM_001145368.1 376 0 -RANBP3L UCSF GRCh37 5 36257584 36257584 + synonymous_variant Silent SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 70 10 77 0 ENST00000502994.1:c.819G>A p.Pro273= p.P273= ENST00000502994 NM_001161429.1 273 ccG/ccA 0 -RASIP1 UCSF GRCh37 19 49243416 49243416 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 38 6 48 0 ENST00000222145.4:c.124G>C p.Ala42Pro p.A42P ENST00000222145 NM_017805.2 42 Gca/Cca 0 -RCOR3 UCSF GRCh37 1 211452617 211452617 + missense_variant Missense_Mutation SNP A A T NOVEL P07_Pri Untested WXS Illumina HiSeq 105 32 92 0 ENST00000419091.2:c.679A>T p.Asn227Tyr p.N227Y ENST00000419091 NM_001136223.1 227 Aat/Tat 0 -RMND5A UCSF GRCh37 2 86998675 86998684 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TAACAGATTG TAACAGATTG AACAGATTA NOVEL P07_Pri Untested WXS Illumina HiSeq 7 0 ENST00000283632.4:c.958-6_961delinsAACAGATTA p.X320_splice ENST00000283632 NM_022780.3 0 -RNF123 UCSF GRCh37 3 49728916 49728916 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 51 6 47 0 ENST00000327697.6:c.141A>C p.Glu47Asp p.E47D ENST00000327697 NM_022064.3 47 gaA/gaC 0 -ROD1 UCSF GRCh37 9 115060107 115060119 + splice_donor_variant,intron_variant Splice_Site INS CTCACCATACACA CTCACCATACACA AACCCCCATAAACC NOVEL P07_Pri Untested WXS Illumina HiSeq 6 0 ENST00000458258.1:c.136+2_136+14delinsGGTTTATGGGGGTT p.X46_splice ENST00000458258 NM_001244898.1 0 -SDR42E1 UCSF GRCh37 16 82032960 82032960 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 165 62 165 0 ENST00000328945.5:c.938G>A p.Arg313His p.R313H ENST00000328945 NM_145168.2 313 cGc/cAc 0 -SEMA3A UCSF GRCh37 7 83610763 83610763 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 61 11 37 0 ENST00000265362.4:c.1526T>G p.Val509Gly p.V509G ENST00000265362 NM_006080.2 509 gTt/gGt 0 -SIGLEC12 UCSF GRCh37 19 52001516 52001516 + synonymous_variant Silent SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 49 13 82 1 ENST00000291707.3:c.1161G>C p.Ser387= p.S387= ENST00000291707 NM_053003.2 387 tcG/tcC 0 -SLC3A1 UCSF GRCh37 2 44539860 44539860 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 102 14 77 0 ENST00000260649.6:c.1468G>T p.Val490Leu p.V490L ENST00000260649 NM_000341.3 490 Gta/Tta 0 -SLC43A1 UCSF GRCh37 11 57261571 57261571 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 66 30 66 0 ENST00000278426.3:c.766A>G p.Thr256Ala p.T256A ENST00000278426 NM_003627.5 256 Acc/Gcc 0 -SLC5A10 UCSF GRCh37 17 18923739 18923739 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Pri Untested WXS Illumina HiSeq 52 21 65 2 ENST00000395647.2:c.1834G>C p.Ala612Pro p.A612P ENST00000395647 NM_152351.4 612 Gcc/Ccc 0 -SLC6A18 UCSF GRCh37 5 1244398 1244398 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 63 11 59 0 ENST00000324642.3:c.1406A>G p.Glu469Gly p.E469G ENST00000324642 NM_182632.2 469 gAg/gGg 0 -SLC7A14 UCSF GRCh37 3 170244714 170244714 + synonymous_variant Silent SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 37 5 53 0 ENST00000231706.5:c.12C>T p.Phe4= p.F4= ENST00000231706 NM_020949.2 4 ttC/ttT 0 -SLC7A4 UCSF GRCh37 22 21384142 21384142 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 34 19 54 0 ENST00000382932.2:c.1481G>T p.Cys494Phe p.C494F ENST00000382932 NM_004173.2 494 tGc/tTc 0 -SMYD1 UCSF GRCh37 2 88387386 88387386 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 16 9 33 0 ENST00000419482.2:c.320C>G p.Ala107Gly p.A107G ENST00000419482 NM_198274.3 107 gCg/gGg 0 -SNAP91 UCSF GRCh37 6 84315423 84315423 + synonymous_variant Silent SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 65 14 50 0 ENST00000439399.2:c.1122A>G p.Gly374= p.G374= ENST00000439399 NM_014841.2 374 ggA/ggG 0 -AFG2A UCSF GRCh37 4 123850221 123850221 + synonymous_variant Silent SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 74 14 122 1 ENST00000274008.4:c.315A>G p.Gly105= p.G105= ENST00000274008 NM_145207.2 105 ggA/ggG 0 -SPATC1 UCSF GRCh37 8 145086738 145086738 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Pri Untested WXS Illumina HiSeq 16 11 31 0 ENST00000377470.3:c.55C>G p.Arg19Gly p.R19G ENST00000377470 NM_198572.2 19 Cgg/Ggg 0 -SRCRB4D UCSF GRCh37 7 76033635 76033635 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 55 24 56 0 ENST00000275560.3:c.122T>C p.Leu41Pro p.L41P ENST00000275560 NM_080744.1 41 cTc/cCc 0 -SUSD3 UCSF GRCh37 9 95838089 95838089 + missense_variant Missense_Mutation SNP C C A 1000g2011may_all_0.0392 P07_Pri Untested WXS Illumina HiSeq 70 12 43 0 ENST00000375472.3:c.112C>A p.Pro38Thr p.P38T ENST00000375472 NM_145006.2 38 Ccc/Acc 0 -TMEM27 UCSF GRCh37 X 15682877 15682877 + synonymous_variant Silent SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 33 4 58 1 ENST00000380342.3:c.22C>T p.Leu8= p.L8= ENST00000380342 NM_020665.5 8 Ctg/Ttg 0 -TNN UCSF GRCh37 1 175054602 175054602 + synonymous_variant Silent SNP C C A NOVEL P07_Pri Untested WXS Illumina HiSeq 8 7 34 0 ENST00000239462.4:c.1296C>A p.Gly432= p.G432= ENST00000239462 NM_022093.1 432 ggC/ggA 0 -TOR1AIP2 UCSF GRCh37 1 179820453 179820453 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 119 41 122 0 ENST00000367612.3:c.80C>T p.Ala27Val p.A27V ENST00000367612 NM_145034.4 27 gCg/gTg 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 19 87 72 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TPSD1 UCSF GRCh37 16 1307050 1307050 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.019 P07_Pri Untested WXS Illumina HiSeq 27 11 32 1 ENST00000211076.3:c.507C>T p.Asp169= p.D169= ENST00000211076 NM_012217.2 169 gaC/gaT 0 -TPST2 UCSF GRCh37 22 26937357 26937357 + synonymous_variant Silent SNP G G T NOVEL P07_Pri Untested WXS Illumina HiSeq 39 5 30 1 ENST00000338754.4:c.240C>A p.Gly80= p.G80= ENST00000338754 NM_003595.3 80 ggC/ggA 0 -TRIM56 UCSF GRCh37 7 100732823 100732823 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 60 17 59 1 ENST00000306085.6:c.2230A>C p.Thr744Pro p.T744P ENST00000306085 NM_030961.1 744 Acc/Ccc 0 -TTF2 UCSF GRCh37 1 117622249 117622249 + synonymous_variant Silent SNP G G A NOVEL P07_Pri Untested WXS Illumina HiSeq 56 10 88 0 ENST00000369466.4:c.1761G>A p.Gln587= p.Q587= ENST00000369466 NM_003594.3 587 caG/caA 0 -TUBB6 UCSF GRCh37 18 12325728 12325728 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Pri Untested WXS Illumina HiSeq 82 69 105 0 ENST00000317702.5:c.940G>C p.Ala314Pro p.A314P ENST00000317702 314 Gcc/Ccc 0 -UNC13D UCSF GRCh37 17 73832988 73832988 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Pri Untested WXS Illumina HiSeq 43 11 67 1 ENST00000207549.4:c.1067C>G p.Ala356Gly p.A356G ENST00000207549 NM_199242.2 356 gCc/gGc 0 -UPK3BL UCSF GRCh37 7 102279621 102279621 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.034,1000g2011may_all_0.1195,snp132_rs56365279 P07_Pri Untested WXS Illumina HiSeq 14 3 10 0 ENST00000340457.8:c.511G>A p.Glu171Lys p.E171K ENST00000340457 NM_001114403.2 171 Gaa/Aaa 0 -VAX1 UCSF GRCh37 10 118893633 118893633 + synonymous_variant Silent SNP A A C NOVEL P07_Pri Untested WXS Illumina HiSeq 16 9 20 0 ENST00000369206.5:c.891T>G p.Gly297= p.G297= ENST00000369206 NM_001112704.1 297 ggT/ggG 0 -VGF UCSF GRCh37 7 100806737 100806737 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Pri Untested WXS Illumina HiSeq 16 9 22 0 ENST00000249330.2:c.1388A>C p.His463Pro p.H463P ENST00000249330 NM_003378.3 463 cAc/cCc 0 -WDR3 UCSF GRCh37 1 118502003 118502003 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Pri Untested WXS Illumina HiSeq 77 11 63 0 ENST00000349139.5:c.2765C>T p.Thr922Ile p.T922I ENST00000349139 NM_006784.2 922 aCt/aTt 0 -WHAMM UCSF GRCh37 15 83478599 83478599 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 17 9 9 0 ENST00000286760.4:c.121T>C p.Phe41Leu p.F41L ENST00000286760 NM_001080435.1 41 Ttc/Ctc 0 -YEATS2 UCSF GRCh37 3 183515780 183515780 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Pri Untested WXS Illumina HiSeq 128 22 96 0 ENST00000305135.5:c.3167A>G p.Lys1056Arg p.K1056R ENST00000305135 NM_018023.4 1056 aAa/aGa 0 -ZNF513 UCSF GRCh37 2 27601003 27601003 + synonymous_variant Silent SNP T T C NOVEL P07_Pri Untested WXS Illumina HiSeq 62 10 76 0 ENST00000323703.6:c.1035A>G p.Gly345= p.G345= ENST00000323703 NM_144631.5 345 ggA/ggG 0 -ZNF783 UCSF GRCh37 7 148978725 148978725 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Pri Untested WXS Illumina HiSeq 44 9 38 0 ENST00000434415.1:c.932G>C p.Gly311Ala p.G311A ENST00000434415 NM_001195220.1 311 gGc/gCc 0 -ABCB9 UCSF GRCh37 12 123434996 123434996 + splice_donor_variant Splice_Site SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 24 4 26 0 ENST00000542678.1:c.716+2T>G p.X239_splice ENST00000542678 0 -ABCG8 UCSF GRCh37 2 44101016 44101016 + synonymous_variant Silent SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 228 26 208 0 ENST00000272286.2:c.1302C>G p.Leu434= p.L434= ENST00000272286 NM_022437.2 434 ctC/ctG 0 -ADAMTS8 UCSF GRCh37 11 130276014 130276014 + stop_gained Nonsense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 65 8 63 0 ENST00000257359.6:c.2109C>A p.Tyr703Ter p.Y703* ENST00000257359 NM_007037.4 703 taC/taA 0 -AGAP1 UCSF GRCh37 2 237028849 237028849 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 28 29 49 0 ENST00000304032.8:c.2128C>T p.Arg710Trp p.R710W ENST00000304032 NM_001037131.2 710 Cgg/Tgg 0 -ALDH4A1 UCSF GRCh37 1 19202933 19202933 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 18 11 48 0 ENST00000375341.3:c.1214A>G p.Glu405Gly p.E405G ENST00000375341 NM_003748.3 405 gAg/gGg 0 -ANK3 UCSF GRCh37 10 62021707 62021707 + synonymous_variant Silent SNP G G A snp132_rs79510328 P07_Rec Untested WXS Illumina HiSeq 47 8 62 0 ENST00000280772.2:c.708C>T p.Phe236= p.F236= ENST00000280772 NM_020987.3 236 ttC/ttT 0 -ANKRD33 UCSF GRCh37 12 52284892 52284892 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 93 12 67 0 ENST00000301190.6:c.1162C>A p.Gln388Lys p.Q388K ENST00000301190 NM_001130015.1 388 Caa/Aaa 0 -ARNT UCSF GRCh37 1 150801579 150801579 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 90 12 113 0 ENST00000358595.5:c.1157A>C p.Tyr386Ser p.Y386S ENST00000358595 NM_178427.2 386 tAc/tCc 0 -ASH1L UCSF GRCh37 1 155490985 155490985 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 209 30 152 0 ENST00000392403.3:c.326G>C p.Arg109Pro p.R109P ENST00000392403 NM_018489.2 109 cGa/cCa 0 -ASPM UCSF GRCh37 1 197097791 197097791 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 70 21 100 0 ENST00000367409.4:c.2765G>A p.Ser922Asn p.S922N ENST00000367409 NM_018136.4 922 aGt/aAt 0 -ATAD3A UCSF GRCh37 1 1451415 1451415 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 37 19 64 0 ENST00000378755.5:c.229C>G p.Leu77Val p.L77V ENST00000378755 NM_018188.3 77 Ctg/Gtg 0 -ATF7 UCSF GRCh37 12 53925539 53925539 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 54 11 99 1 ENST00000420353.2:c.916G>C p.Ala306Pro p.A306P ENST00000420353 NM_006856.2 306 Gcc/Ccc 0 -ATP11A UCSF GRCh37 13 113485856 113485856 + synonymous_variant Silent SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 48 31 42 0 ENST00000487903.1:c.1389C>T p.Asn463= p.N463= ENST00000487903 463 aaC/aaT 0 -ATP12A UCSF GRCh37 13 25283587 25283587 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 24 13 51 1 ENST00000218548.6:c.2597T>G p.Val866Gly p.V866G ENST00000218548 NM_001185085.1 866 gTg/gGg 0 -ATRX UCSF GRCh37 X 76912145 76912145 + splice_acceptor_variant Splice_Site SNP T T C NOVEL P07_Rec somatic WXS Sanger Illumina HiSeq 19 41 56 0 ENST00000373344.5:c.4121-2A>G p.X1374_splice ENST00000373344 NM_000489.3 0 -BACE2 UCSF GRCh37 21 42609457 42609457 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 97 25 112 0 ENST00000330333.6:c.419C>G p.Ser140Cys p.S140C ENST00000330333 NM_012105.4 140 tCc/tGc 0 -BIN2 UCSF GRCh37 12 51685455 51685455 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 79 21 72 0 ENST00000267012.4:c.1435C>T p.Pro479Ser p.P479S ENST00000267012 NM_016293.2 479 Cct/Tct 0 -BIN2 UCSF GRCh37 12 51690936 51690936 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 57 7 53 0 ENST00000267012.4:c.615C>G p.Cys205Trp p.C205W ENST00000267012 NM_016293.2 205 tgC/tgG 0 -BPTF UCSF GRCh37 17 65941584 65941584 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 73 9 66 1 ENST00000306378.6:c.6760A>C p.Thr2254Pro p.T2254P ENST00000306378 NM_182641.3 2254 Acc/Ccc 0 -C15orf17 UCSF GRCh37 15 75194971 75194971 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 84 10 103 0 ENST00000357635.5:c.586A>C p.Thr196Pro p.T196P ENST00000357635 NM_020447.3 196 Acc/Ccc 0 -C17orf46 UCSF GRCh37 17 43332527 43332527 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 44 7 52 2 ENST00000331780.4:c.1022T>C p.Leu341Pro p.L341P ENST00000331780 NM_152343.2 341 cTc/cCc 0 -C17orf46 UCSF GRCh37 17 43332520 43332520 + synonymous_variant Silent SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 66 11 50 1 ENST00000331780.4:c.1029A>C p.Pro343= p.P343= ENST00000331780 NM_152343.2 343 ccA/ccC 0 -C2orf54 UCSF GRCh37 2 241831112 241831112 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 24 6 51 0 ENST00000388934.4:c.583A>G p.Arg195Gly p.R195G ENST00000388934 NM_001085437.1 195 Aga/Gga 0 -C2orf65 UCSF GRCh37 2 74787345 74787345 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec somatic WXS Sanger Illumina HiSeq 33 8 51 0 ENST00000290536.5:c.1355T>G p.Leu452Arg p.L452R ENST00000290536 NM_138804.4 452 cTg/cGg 0 -C5orf55 UCSF GRCh37 5 442884 442884 + synonymous_variant Silent SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 36 8 63 0 ENST00000408966.2:c.54C>G p.Gly18= p.G18= ENST00000408966 NM_138464.2 18 ggC/ggG 0 -C9orf11 UCSF GRCh37 9 27294321 27294321 + synonymous_variant Silent SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 50 34 36 1 ENST00000380032.3:c.282A>G p.Leu94= p.L94= ENST00000380032 NM_020641.2 94 ctA/ctG 0 -CACNA2D4 UCSF GRCh37 12 2017100 2017100 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 27 5 32 0 ENST00000382722.5:c.590A>C p.Asn197Thr p.N197T ENST00000382722 NM_172364.4 197 aAc/aCc 0 -CAMT-ND1 UCSF GRCh37 12 67675701 67675701 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 109 23 102 0 ENST00000545606.1:c.80C>A p.Thr27Lys p.T27K ENST00000545606 NM_018448.3 27 aCa/aAa 0 -CARM1 UCSF GRCh37 19 11019790 11019790 + stop_gained Nonsense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 52 9 52 0 ENST00000327064.4:c.465C>A p.Tyr155Ter p.Y155* ENST00000327064 NM_199141.1 155 taC/taA 0 -CBLL1 UCSF GRCh37 7 107399172 107399174 + inframe_deletion In_Frame_Del DEL CAC CAC - NOVEL P07_Rec Untested WXS Illumina HiSeq 10 0 ENST00000440859.3:c.1029_1031del p.Pro350del p.P350del ENST00000440859 NM_024814.2 342 gCACca/gca 0 -CBLL1 UCSF GRCh37 7 107399173 107399176 + protein_altering_variant In_Frame_Del DEL ACCA ACCA C NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000440859.3:c.1026_1029delinsC p.Pro350del p.P350del ENST00000440859 NM_024814.2 342 gcACCA/gcC 0 -CCDC103 UCSF GRCh37 17 42978399 42978399 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P07_Rec Untested WXS Illumina HiSeq 35 0 ENST00000417826.2:c.35del p.Leu12TrpfsTer45 p.L12Wfs*45 ENST00000417826 NM_001258399.1 11 gcT/gc 0 -CCDC27 UCSF GRCh37 1 3680383 3680383 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 16 8 41 0 ENST00000294600.2:c.1435C>A p.Gln479Lys p.Q479K ENST00000294600 NM_152492.2 479 Caa/Aaa 0 -CDK14 UCSF GRCh37 7 90546941 90546944 + frameshift_variant Frame_Shift_Del DEL GTCT GTCT - NOVEL P07_Rec Untested WXS Illumina HiSeq 31 0 ENST00000265741.3:c.678_681del p.Ser227ThrfsTer12 p.S227Tfs*12 ENST00000265741 NM_012395.2 225 gGTCTg/gg 0 -CELSR1 UCSF GRCh37 22 46790131 46790131 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 20 11 59 0 ENST00000262738.3:c.5872T>G p.Trp1958Gly p.W1958G ENST00000262738 NM_014246.1 1958 Tgg/Ggg 0 -CHRNA2 UCSF GRCh37 8 27327497 27327497 + splice_region_variant,synonymous_variant Splice_Region SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 32 12 41 1 ENST00000407991.1:c.75T>G p.Gly25= p.G25= ENST00000407991 NM_000742.3 25 ggT/ggG 0 -CLEC7A UCSF GRCh37 12 10279261 10279261 + stop_gained Nonsense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 93 11 70 0 ENST00000304084.8:c.249C>A p.Tyr83Ter p.Y83* ENST00000304084 NM_197947.2 83 taC/taA 0 -CNTLN UCSF GRCh37 9 17486994 17486995 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P07_Rec Untested WXS Illumina HiSeq 26 0 ENST00000380647.3:c.4054dup p.Thr1352AsnfsTer4 p.T1352Nfs*4 ENST00000380647 1350 gaa/gaAa 0 -COL16A1 UCSF GRCh37 1 32118347 32118370 + frameshift_variant Frame_Shift_Del DEL TGCCTGGCTGGCCCATGGGACCCG TGCCTGGCTGGCCCATGGGACCCG C NOVEL P07_Rec 24 Untested WXS Illumina HiSeq 12 0 ENST00000373672.3:c.4697_4720delinsG p.Pro1566ArgfsTer6 p.P1566Rfs*6 ENST00000373672 NM_001856.3 1566 cCGGGTCCCATGGGCCAGCCAGGCAag/cGag 0 -COL4A4 UCSF GRCh37 2 227875211 227875211 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P07_Rec Untested WXS Illumina HiSeq 9 0 ENST00000396625.3:c.4340del p.Pro1447LeufsTer105 p.P1447Lfs*105 ENST00000396625 NM_000092.4 1447 cCt/ct 0 -CPNE3 UCSF GRCh37 8 87563330 87563330 + splice_donor_variant Splice_Site SNP T T G 1000g2011may_all_0.0465 P07_Rec Untested WXS Illumina HiSeq 38 26 103 1 ENST00000521271.1:c.1068+2T>G p.X356_splice ENST00000521271 NM_003909.3 0 -CRBN UCSF GRCh37 3 3215909 3215909 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 96 12 117 0 ENST00000231948.4:c.211A>G p.Thr71Ala p.T71A ENST00000231948 NM_016302.3 71 Act/Gct 0 -CSMD2 UCSF GRCh37 1 34554724 34554724 + stop_gained,NMD_transcript_variant Nonsense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 76 10 68 0 ENST00000241312.4:c.138C>A p.Tyr46Ter p.Y46* ENST00000241312 46 taC/taA 0 -CTNNA1 UCSF GRCh37 5 138260372 138260372 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 27 4 37 0 ENST00000302763.7:c.1720G>A p.Glu574Lys p.E574K ENST00000302763 NM_001903.2 574 Gaa/Aaa 0 -CTNNAL1 UCSF GRCh37 9 111718091 111718091 + stop_gained Nonsense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 105 15 105 0 ENST00000325551.4:c.1608C>A p.Tyr536Ter p.Y536* ENST00000325551 NM_003798.2 536 taC/taA 0 -CYBASC3 UCSF GRCh37 11 61120560 61120560 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 51 8 52 0 ENST00000426130.2:c.496C>G p.Arg166Gly p.R166G ENST00000426130 NM_001161454.1 166 Cgc/Ggc 0 -DCHS1 UCSF GRCh37 11 6643472 6643472 + synonymous_variant Silent SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 11 3 29 1 ENST00000299441.3:c.9435T>G p.Gly3145= p.G3145= ENST00000299441 NM_003737.2 3145 ggT/ggG 0 -DDHD2 UCSF GRCh37 8 38111154 38111154 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 175 37 131 0 ENST00000397166.2:c.1972C>T p.Arg658Cys p.R658C ENST00000397166 NM_015214.2 658 Cgc/Tgc 0 -DDX60L UCSF GRCh37 4 169315741 169315741 + stop_gained Nonsense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 173 32 138 0 ENST00000260184.7:c.3685C>T p.Arg1229Ter p.R1229* ENST00000260184 NM_001012967.1 1229 Cga/Tga 0 -DEFB126 UCSF GRCh37 20 126310 126311 + frameshift_variant Frame_Shift_Del DEL AC AC - NOVEL P07_Rec Untested WXS Illumina HiSeq 8 0 ENST00000382398.3:c.313_314del p.Thr105ProfsTer? p.T105Pfs*? ENST00000382398 NM_030931.3 105 ACc/c 0 -DIS3 UCSF GRCh37 13 73337743 73337743 + missense_variant,splice_region_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 74 13 132 1 ENST00000377767.4:c.1973A>G p.Glu658Gly p.E658G ENST00000377767 NM_014953.3 658 gAa/gGa 0 -DIXDC1 UCSF GRCh37 11 111853109 111853109 + frameshift_variant,splice_region_variant Frame_Shift_Ins INS T T CC NOVEL P07_Rec Untested WXS Illumina HiSeq 11 0 ENST00000440460.2:c.813delinsCC p.Gly272ArgfsTer44 p.G272Rfs*44 ENST00000440460 NM_001037954.3 271 ccT/ccCC 0 -DNAJA3 UCSF GRCh37 16 4500462 4500462 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 21 4 14 0 ENST00000262375.6:c.1303G>A p.Glu435Lys p.E435K ENST00000262375 NM_005147.5 435 Gag/Aag 0 -DNMT1 UCSF GRCh37 19 10270707 10270742 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region DEL ACTGTTTTGGCGCGAGCCATTTTTTTCTCCGTTCTG ACTGTTTTGGCGCGAGCCATTTTTTTCTCCGTTCTG GTTGTTGTGGGGGGAGCCATTTTTTTCTCCGTTCT NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000340748.4:c.996-3_1028delinsAGAACGGAGAAAAAAATGGCTCCCCCCACAACAAC p.X332_splice ENST00000340748 0 -DOK6 UCSF GRCh37 18 67508602 67508602 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 93 12 101 0 ENST00000382713.5:c.979T>C p.Ser327Pro p.S327P ENST00000382713 NM_152721.5 327 Tcc/Ccc 0 -ERBB2IP UCSF GRCh37 5 65374262 65374262 + stop_gained Nonsense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 74 19 100 0 ENST00000506030.1:c.4164C>A p.Tyr1388Ter p.Y1388* ENST00000506030 1388 taC/taA 0 -ERGIC3 UCSF GRCh37 20 34145203 34145203 + synonymous_variant Silent SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 69 9 89 0 ENST00000357394.4:c.1095A>G p.Gly365= p.G365= ENST00000357394 NM_198398.1 365 ggA/ggG 0 -ETFA UCSF GRCh37 15 76578040 76578040 + missense_variant Missense_Mutation SNP T T A NOVEL P07_Rec Untested WXS Illumina HiSeq 77 31 83 1 ENST00000557943.1:c.602A>T p.Asp201Val p.D201V ENST00000557943 NM_000126.3 201 gAc/gTc 0 -FAM108A1 UCSF GRCh37 19 1881408 1881408 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 60 9 40 0 ENST00000250974.9:c.158T>C p.Leu53Ser p.L53S ENST00000250974 NM_031213.3 53 tTg/tCg 0 -FAM58BP UCSF GRCh37 1 200183278 200183278 + non_coding_transcript_exon_variant RNA SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0088 P07_Rec Untested WXS Illumina HiSeq 88 17 59 0 ENST00000424019.1:n.623C>T *208* ENST00000424019 0 -FCER1A UCSF GRCh37 1 159275786 159275786 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 72 12 115 0 ENST00000368115.1:c.340C>G p.Leu114Val p.L114V ENST00000368115 NM_002001.3 114 Ctc/Gtc 0 -FMN1 UCSF GRCh37 15 33261341 33261341 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 61 37 70 1 ENST00000334528.9:c.1892T>C p.Leu631Pro p.L631P ENST00000334528 NM_001103184.3 631 cTc/cCc 0 -GFM1 UCSF GRCh37 3 158384100 158384100 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 41 12 32 0 ENST00000486715.1:c.1526A>G p.Glu509Gly p.E509G ENST00000486715 NM_024996.5 509 gAa/gGa 0 -GGTLC2 UCSF GRCh37 22 22988917 22988917 + synonymous_variant Silent SNP T T C 1000g2011may_all_0.0094,snp132_rs71316772 P07_Rec Untested WXS Illumina HiSeq 22 5 16 0 ENST00000480559.1:c.102T>C p.Asp34= p.D34= ENST00000480559 NM_199127.2 34 gaT/gaC 0 -GIF UCSF GRCh37 11 59610508 59610508 + synonymous_variant Silent SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 56 13 67 1 ENST00000257248.2:c.363A>C p.Ala121= p.A121= ENST00000257248 NM_005142.2 121 gcA/gcC 0 -GIGYF1 UCSF GRCh37 7 100285167 100285167 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec somatic WXS Sanger Illumina HiSeq 68 13 72 0 ENST00000275732.5:c.334G>C p.Ala112Pro p.A112P ENST00000275732 NM_022574.4 112 Gct/Cct 0 -GOLGB1 UCSF GRCh37 3 121435721 121435721 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 204 37 166 0 ENST00000393667.3:c.1151C>G p.Ser384Cys p.S384C ENST00000393667 NM_001256486.1 384 tCt/tGt 0 -GORASP2 UCSF GRCh37 2 171806771 171806771 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 70 17 58 0 ENST00000234160.4:c.406A>G p.Ile136Val p.I136V ENST00000234160 NM_015530.4 136 Ata/Gta 0 -GPR26 UCSF GRCh37 10 125447449 125447449 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 45 16 76 0 ENST00000284674.1:c.787G>A p.Val263Met p.V263M ENST00000284674 NM_153442.3 263 Gtg/Atg 0 -GRXCR1 UCSF GRCh37 4 43032401 43032401 + synonymous_variant Silent SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 118 53 120 0 ENST00000399770.2:c.717T>C p.Cys239= p.C239= ENST00000399770 NM_001080476.2 239 tgT/tgC 0 -HDLBP UCSF GRCh37 2 242179463 242179463 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P07_Rec Untested WXS Illumina HiSeq 13 0 ENST00000391975.1:c.2244del p.Ile750PhefsTer24 p.I750Ffs*24 ENST00000391975 NM_203346.3 748 ggC/gg 0 -HEATR2 UCSF GRCh37 7 796564 796564 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 21 14 42 0 ENST00000297440.6:c.1403T>C p.Leu468Pro p.L468P ENST00000297440 NM_017802.3 468 cTc/cCc 0 -HLA-DQB1 UCSF GRCh37 6 32629150 32629150 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 21 47 49 0 ENST00000374943.4:c.746T>C p.Leu249Pro p.L249P ENST00000374943 NM_001243961.1 249 cTt/cCt 0 -HLX UCSF GRCh37 1 221054610 221054610 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 129 23 98 0 ENST00000366903.6:c.667T>C p.Phe223Leu p.F223L ENST00000366903 NM_021958.3 223 Ttc/Ctc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 83 51 98 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -ILK UCSF GRCh37 11 6629291 6629291 + synonymous_variant Silent SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 78 13 94 0 ENST00000396751.2:c.105C>T p.Phe35= p.F35= ENST00000396751 NM_001014795.2 35 ttC/ttT 0 -IPO5 UCSF GRCh37 13 98637679 98637679 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 110 16 118 0 ENST00000261574.5:c.230G>A p.Arg77Lys p.R77K ENST00000261574 NM_002271.4 77 aGa/aAa 0 -IRX6 UCSF GRCh37 16 55361522 55361522 + synonymous_variant Silent SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 34 28 70 0 ENST00000290552.7:c.438C>T p.Gly146= p.G146= ENST00000290552 NM_024335.2 146 ggC/ggT 0 -KIAA0564 UCSF GRCh37 13 42164786 42164786 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 105 12 61 0 ENST00000379310.3:c.5102T>G p.Leu1701Arg p.L1701R ENST00000379310 NM_015058.1 1701 cTg/cGg 0 -KIAA1267 UCSF GRCh37 17 44144000 44144002 + inframe_deletion In_Frame_Del DEL GAT GAT - NOVEL P07_Rec Untested WXS Illumina HiSeq 30 0 ENST00000262419.6:c.1749_1751del p.Ser584del p.S584del ENST00000262419 NM_001193466.1 583 tcATCt/tct 0 -KIAA1462 UCSF GRCh37 10 30316881 30316881 + synonymous_variant Silent SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 75 56 69 0 ENST00000375377.1:c.2196G>A p.Thr732= p.T732= ENST00000375377 NM_020848.2 732 acG/acA 0 -KRBA1 UCSF GRCh37 7 149430470 149430470 + synonymous_variant Silent SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 98 42 68 0 ENST00000255992.10:c.2424C>T p.Ala808= p.A808= ENST00000255992 NM_032534.2 808 gcC/gcT 0 -KRT7 UCSF GRCh37 12 52642412 52642412 + synonymous_variant Silent SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 24 4 44 0 ENST00000331817.5:c.1278T>G p.Gly426= p.G426= ENST00000331817 NM_005556.3 426 ggT/ggG 0 -L3MBTL3 UCSF GRCh37 6 130387509 130387509 + stop_gained Nonsense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 95 12 129 0 ENST00000529410.1:c.876C>A p.Tyr292Ter p.Y292* ENST00000529410 292 taC/taA 0 -LAMA2 UCSF GRCh37 6 129824352 129824352 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 96 64 106 0 ENST00000421865.2:c.8474T>C p.Phe2825Ser p.F2825S ENST00000421865 NM_001079823.1 2825 tTc/tCc 0 -LAMB4 UCSF GRCh37 7 107703235 107703235 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 67 10 64 0 ENST00000388781.3:c.3266G>T p.Ser1089Ile p.S1089I ENST00000388781 NM_007356.2 1089 aGt/aTt 0 -LANCL3 UCSF GRCh37 X 37518731 37518731 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 27 5 35 0 ENST00000378619.3:c.714G>T p.Leu238Phe p.L238F ENST00000378619 NM_001170331.1 238 ttG/ttT 0 -LRP2 UCSF GRCh37 2 169993907 169993907 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 91 54 95 0 ENST00000263816.3:c.13615A>G p.Ile4539Val p.I4539V ENST00000263816 NM_004525.2 4539 Atc/Gtc 0 -MAK16 UCSF GRCh37 8 33346526 33346526 + stop_gained Nonsense_Mutation SNP T T A NOVEL P07_Rec Untested WXS Illumina HiSeq 196 37 158 0 ENST00000360128.6:c.261T>A p.Tyr87Ter p.Y87* ENST00000360128 NM_032509.3 87 taT/taA 0 -MAPK8IP3 UCSF GRCh37 16 1815990 1815990 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 15 16 36 0 ENST00000250894.4:c.2473G>A p.Glu825Lys p.E825K ENST00000250894 NM_015133.3 825 Gag/Aag 0 -MEF2C UCSF GRCh37 5 88025121 88025121 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 109 13 64 0 ENST00000340208.5:c.908C>A p.Thr303Asn p.T303N ENST00000340208 NM_001193347.1 303 aCc/aAc 0 -MLL3 UCSF GRCh37 7 151874148 151874149 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000262189.6:c.8390dup p.Glu2798GlyfsTer11 p.E2798Gfs*11 ENST00000262189 NM_170606.2 2797 aag/aAag 0 -MPP4 UCSF GRCh37 2 202545740 202545740 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 151 18 117 0 ENST00000409474.3:c.750G>A p.Met250Ile p.M250I ENST00000409474 NM_033066.2 250 atG/atA 0 -MRPL47 UCSF GRCh37 3 179310526 179310526 + missense_variant,splice_region_variant Missense_Mutation SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 52 16 100 0 ENST00000476781.1:c.535C>G p.His179Asp p.H179D ENST00000476781 NM_020409.2 179 Cac/Gac 0 -MTHFR UCSF GRCh37 1 11854002 11854002 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 56 12 55 0 ENST00000376592.1:c.1492G>A p.Val498Met p.V498M ENST00000376592 498 Gtg/Atg 0 -NARS2 UCSF GRCh37 11 78277317 78277317 + missense_variant,splice_region_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 90 23 135 2 ENST00000281038.5:c.374A>G p.Asp125Gly p.D125G ENST00000281038 NM_001243251.1 125 gAt/gGt 0 -NLGN4Y UCSF GRCh37 Y 16942197 16942197 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 39 9 74 0 ENST00000355905.2:c.1399A>C p.Thr467Pro p.T467P ENST00000355905 NM_014893.4 467 Acc/Ccc 0 -NLRP3 UCSF GRCh37 1 247587244 247587244 + missense_variant Missense_Mutation SNP C C T NOVEL P07_Rec Untested WXS Illumina HiSeq 52 7 55 0 ENST00000336119.3:c.499C>T p.Arg167Cys p.R167C ENST00000336119 NM_001127462.2 167 Cgc/Tgc 0 -NOTCH1 UCSF GRCh37 9 139391036 139391036 + synonymous_variant Silent SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 43 8 76 0 ENST00000277541.6:c.7155G>C p.Val2385= p.V2385= ENST00000277541 NM_017617.3 2385 gtG/gtC 0 -NUDT10 UCSF GRCh37 X 51076024 51076024 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.00397,1000g2011may_all_0.0126,snp132_rs2801626 P07_Rec Untested WXS Illumina HiSeq 53 6 33 0 ENST00000376006.3:c.207G>A p.Glu69= p.E69= ENST00000376006 NM_153183.2 69 gaG/gaA 0 -OCA2 UCSF GRCh37 15 28231781 28231781 + missense_variant Missense_Mutation SNP T T A NOVEL P07_Rec Untested WXS Illumina HiSeq 146 18 160 0 ENST00000354638.3:c.1191A>T p.Leu397Phe p.L397F ENST00000354638 NM_000275.2 397 ttA/ttT 0 -OR4A15 UCSF GRCh37 11 55135516 55135516 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 212 26 196 0 ENST00000314706.3:c.157A>G p.Lys53Glu p.K53E ENST00000314706 NM_001005275.1 53 Aag/Gag 0 -PCDHB14 UCSF GRCh37 5 140604999 140604999 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 36 11 50 0 ENST00000239449.4:c.1922T>G p.Val641Gly p.V641G ENST00000239449 NM_018934.2 641 gTg/gGg 0 -PCNX UCSF GRCh37 14 71568927 71568927 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P07_Rec Untested WXS Illumina HiSeq 17 0 ENST00000304743.2:c.5812del p.Val1938SerfsTer4 p.V1938Sfs*4 ENST00000304743 NM_014982.2 1937 aGg/ag 0 -PCNXL3 UCSF GRCh37 11 65402768 65402768 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 10 4 16 1 ENST00000355703.3:c.5033T>G p.Val1678Gly p.V1678G ENST00000355703 NM_032223.2 1678 gTc/gGc 0 -PGC UCSF GRCh37 6 41715059 41715059 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 41 7 61 1 ENST00000373025.3:c.14T>G p.Val5Gly p.V5G ENST00000373025 NM_002630.3 5 gTg/gGg 0 -PNLIP UCSF GRCh37 10 118307928 118307928 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 199 30 154 0 ENST00000369221.2:c.258A>C p.Lys86Asn p.K86N ENST00000369221 NM_000936.2 86 aaA/aaC 0 -PNOC UCSF GRCh37 8 28196684 28196684 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 34 10 77 0 ENST00000301908.3:c.254A>C p.Tyr85Ser p.Y85S ENST00000301908 NM_006228.3 85 tAc/tCc 0 -PRKG1 UCSF GRCh37 10 53564389 53564389 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 82 12 97 0 ENST00000373980.4:c.637C>G p.Gln213Glu p.Q213E ENST00000373980 NM_006258.3 213 Caa/Gaa 0 -PRSS1 UCSF GRCh37 7 142460412 142460431 + coding_sequence_variant,intron_variant In_Frame_Del DEL ATGTCAGGTGATTTGACCAA ATGTCAGGTGATTTGACCAA CTGCCAGGTGATTTGAC NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000311737.7:c.585_591+13delinsCTGCCAGGTGATTTGAC *195* ENST00000311737 NM_002769.4 195 0 -PRSS48 UCSF GRCh37 4 152201017 152201018 + frameshift_variant Frame_Shift_Ins INS - - GGCAG NOVEL P07_Rec Untested WXS Illumina HiSeq 9 0 ENST00000455694.2:c.123_124insGCAGG p.Gln42AlafsTer23 p.Q42Afs*23 ENST00000455694 NM_183375.2 41 tgg/tgGGCAGg 0 -PSMD10 UCSF GRCh37 X 107331324 107331324 + synonymous_variant Silent SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 35 11 63 0 ENST00000217958.3:c.219T>G p.Gly73= p.G73= ENST00000217958 NM_170750.2 73 ggT/ggG 0 -RNF133 UCSF GRCh37 7 122338115 122338115 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 289 35 165 0 ENST00000340112.2:c.858G>C p.Trp286Cys p.W286C ENST00000340112 NM_139175.1 286 tgG/tgC 0 -SDF2 UCSF GRCh37 17 26982450 26982450 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P07_Rec Untested WXS Illumina HiSeq 21 0 ENST00000247020.4:c.203del p.Ser68IlefsTer27 p.S68Ifs*27 ENST00000247020 NM_006923.3 68 aGt/at 0 -SEMA3G UCSF GRCh37 3 52474094 52474094 + synonymous_variant Silent SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 52 8 42 0 ENST00000231721.2:c.1164A>G p.Ala388= p.A388= ENST00000231721 NM_020163.1 388 gcA/gcG 0 -SGIP1 UCSF GRCh37 1 67147609 67147609 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 179 34 136 0 ENST00000371037.4:c.872T>C p.Leu291Ser p.L291S ENST00000371037 NM_032291.2 291 tTg/tCg 0 -SIGLEC12 UCSF GRCh37 19 52001516 52001516 + synonymous_variant Silent SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 52 10 82 1 ENST00000291707.3:c.1161G>C p.Ser387= p.S387= ENST00000291707 NM_053003.2 387 tcG/tcC 0 -SLC15A3 UCSF GRCh37 11 60714292 60714292 + missense_variant,splice_region_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 54 9 74 0 ENST00000227880.3:c.560T>G p.Val187Gly p.V187G ENST00000227880 NM_016582.2 187 gTg/gGg 0 -SLC1A5 UCSF GRCh37 19 47281995 47281995 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 45 14 46 0 ENST00000542575.2:c.995A>C p.Asn332Thr p.N332T ENST00000542575 NM_005628.2 332 aAc/aCc 0 -SLC22A15 UCSF GRCh37 1 116562262 116562262 + synonymous_variant Silent SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 252 35 192 0 ENST00000369503.4:c.360T>C p.Ser120= p.S120= ENST00000369503 NM_018420.2 120 agT/agC 0 -SLC24A1 UCSF GRCh37 15 65918177 65918179 + inframe_deletion In_Frame_Del DEL CTG CTG - 1000g2010nov_all P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000261892.6:c.1771_1773delCTG p.Leu591del p.L591del ENST00000261892 NM_004727.2 587 CTG/- 0 -SLC25A11 UCSF GRCh37 17 4841768 4841805 + splice_donor_variant,intron_variant Splice_Site INS AGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCA AGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCA CACCCCCCCCCCCCCCAACCCCCCCAGCCCCTCCCCCCC NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000225665.7:c.546+2_546+39delinsGGGGGGGAGGGGCTGGGGGGGTTGGGGGGGGGGGGGGTG p.X182_splice ENST00000225665 NM_001165417.1 0 -SLC39A10 UCSF GRCh37 2 196544942 196544942 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000409086.3:c.183del p.Lys61AsnfsTer26 p.K61Nfs*26 ENST00000409086 NM_001127257.1 59 gAa/ga 0 -SLC3A1 UCSF GRCh37 2 44539860 44539860 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 83 15 77 0 ENST00000260649.6:c.1468G>T p.Val490Leu p.V490L ENST00000260649 NM_000341.3 490 Gta/Tta 0 -SLC41A1 UCSF GRCh37 1 205760812 205760812 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 42 8 57 0 ENST00000367137.3:c.1391T>G p.Val464Gly p.V464G ENST00000367137 NM_173854.4 464 gTg/gGg 0 -SLC4A9 UCSF GRCh37 5 139743677 139743677 + synonymous_variant Silent SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 34 8 51 2 ENST00000230993.6:c.1365A>G p.Gly455= p.G455= ENST00000230993 NM_001258428.1 455 ggA/ggG 0 -SLC5A10 UCSF GRCh37 17 18923739 18923739 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 38 25 65 2 ENST00000395647.2:c.1834G>C p.Ala612Pro p.A612P ENST00000395647 NM_152351.4 612 Gcc/Ccc 0 -SLC5A8 UCSF GRCh37 12 101588918 101588918 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0014 P07_Rec Untested WXS Illumina HiSeq 84 12 60 0 ENST00000536262.2:c.492C>T p.Gly164= p.G164= ENST00000536262 NM_145913.3 164 ggC/ggT 0 -SLC7A4 UCSF GRCh37 22 21384142 21384142 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 32 27 54 0 ENST00000382932.2:c.1481G>T p.Cys494Phe p.C494F ENST00000382932 NM_004173.2 494 tGc/tTc 0 -SMARCA4 UCSF GRCh37 19 11096909 11096909 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Rec somatic WXS Sanger Illumina HiSeq 59 10 61 0 ENST00000344626.4:c.400G>C p.Val134Leu p.V134L ENST00000344626 NM_003072.3 134 Gtt/Ctt 0 -SPATC1 UCSF GRCh37 8 145086738 145086738 + missense_variant Missense_Mutation SNP C C G NOVEL P07_Rec Untested WXS Illumina HiSeq 13 12 31 0 ENST00000377470.3:c.55C>G p.Arg19Gly p.R19G ENST00000377470 NM_198572.2 19 Cgg/Ggg 0 -SRCRB4D UCSF GRCh37 7 76033635 76033635 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 27 16 56 0 ENST00000275560.3:c.122T>C p.Leu41Pro p.L41P ENST00000275560 NM_080744.1 41 cTc/cCc 0 -STOML2 UCSF GRCh37 9 35102804 35102804 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 53 8 75 0 ENST00000356493.5:c.62C>T p.Ser21Phe p.S21F ENST00000356493 NM_013442.1 21 tCt/tTt 0 -SUSD2 UCSF GRCh37 22 24583952 24583952 + synonymous_variant Silent SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 35 8 40 0 ENST00000358321.3:c.2190A>C p.Pro730= p.P730= ENST00000358321 NM_019601.3 730 ccA/ccC 0 -SUSD3 UCSF GRCh37 9 95838089 95838089 + missense_variant Missense_Mutation SNP C C A 1000g2011may_all_0.0392 P07_Rec Untested WXS Illumina HiSeq 51 11 43 0 ENST00000375472.3:c.112C>A p.Pro38Thr p.P38T ENST00000375472 NM_145006.2 38 Ccc/Acc 0 -T UCSF GRCh37 6 166576023 166576023 + synonymous_variant Silent SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 52 12 50 0 ENST00000296946.2:c.816C>T p.Ser272= p.S272= ENST00000296946 NM_003181.3 272 tcC/tcT 0 -TCEB3C UCSF GRCh37 18 44554967 44554967 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 109 13 307 0 ENST00000330682.2:c.1247A>C p.Tyr416Ser p.Y416S ENST00000330682 NM_145653.3 416 tAc/tCc 0 -TCERG1L UCSF GRCh37 10 132915117 132915117 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 54 10 84 0 ENST00000368642.4:c.1340T>C p.Leu447Pro p.L447P ENST00000368642 NM_174937.3 447 cTc/cCc 0 -TMEM144 UCSF GRCh37 4 159158783 159158783 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 58 14 88 0 ENST00000296529.6:c.670G>A p.Ala224Thr p.A224T ENST00000296529 NM_018342.4 224 Gca/Aca 0 -SMIM43 UCSF GRCh37 4 122681471 122681471 + missense_variant Missense_Mutation SNP G G T NOVEL P07_Rec Untested WXS Illumina HiSeq 59 7 85 0 ENST00000337677.5:c.371C>A p.Thr124Asn p.T124N ENST00000337677 NM_152399.2 124 aCt/aAt 0 -TMEM161A UCSF GRCh37 19 19232150 19232150 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 24 9 48 1 ENST00000162044.9:c.881A>C p.His294Pro p.H294P ENST00000162044 NM_017814.2 294 cAc/cCc 0 -TMEM175 UCSF GRCh37 4 949253 949253 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 35 4 35 0 ENST00000264771.4:c.688T>G p.Cys230Gly p.C230G ENST00000264771 NM_032326.2 230 Tgc/Ggc 0 -TMEM177 UCSF GRCh37 2 120438443 120438443 + missense_variant Missense_Mutation SNP T T C NOVEL P07_Rec Untested WXS Illumina HiSeq 36 6 81 0 ENST00000424086.1:c.14T>C p.Leu5Pro p.L5P ENST00000424086 NM_001105198.1 5 cTg/cCg 0 -TMPRSS9 UCSF GRCh37 19 2422016 2422016 + synonymous_variant Silent SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 120 14 109 0 ENST00000332578.3:c.2217C>A p.Pro739= p.P739= ENST00000332578 NM_182973.1 739 ccC/ccA 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 17 80 72 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TPSD1 UCSF GRCh37 16 1307050 1307050 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.019 P07_Rec Untested WXS Illumina HiSeq 34 5 32 1 ENST00000211076.3:c.507C>T p.Asp169= p.D169= ENST00000211076 NM_012217.2 169 gaC/gaT 0 -TPX2 UCSF GRCh37 20 30385297 30385297 + missense_variant Missense_Mutation SNP A A G NOVEL P07_Rec Untested WXS Illumina HiSeq 134 59 157 0 ENST00000300403.6:c.1924A>G p.Lys642Glu p.K642E ENST00000300403 NM_012112.4 642 Aaa/Gaa 0 -TRIM56 UCSF GRCh37 7 100732823 100732823 + missense_variant Missense_Mutation SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 59 14 59 1 ENST00000306085.6:c.2230A>C p.Thr744Pro p.T744P ENST00000306085 NM_030961.1 744 Acc/Ccc 0 -TUBB6 UCSF GRCh37 18 12325728 12325728 + missense_variant Missense_Mutation SNP G G C NOVEL P07_Rec Untested WXS Illumina HiSeq 87 57 105 0 ENST00000317702.5:c.940G>C p.Ala314Pro p.A314P ENST00000317702 314 Gcc/Ccc 0 -TUBG2 UCSF GRCh37 17 40815072 40815072 + splice_donor_variant Splice_Site SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 63 14 89 0 ENST00000251412.7:c.479+2C>A p.X160_splice ENST00000251412 NM_016437.2 0 -UGT1A3 UCSF GRCh37 2 234638624 234638624 + synonymous_variant Silent SNP G G A NOVEL P07_Rec Untested WXS Illumina HiSeq 81 10 165 0 ENST00000482026.1:c.852G>A p.Arg284= p.R284= ENST00000482026 284 agG/agA 0 -UPK3BL UCSF GRCh37 7 102279621 102279621 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.034,1000g2011may_all_0.1195,snp132_rs56365279 P07_Rec Untested WXS Illumina HiSeq 10 5 10 0 ENST00000340457.8:c.511G>A p.Glu171Lys p.E171K ENST00000340457 NM_001114403.2 171 Gaa/Aaa 0 -USP21 UCSF GRCh37 1 161132755 161132755 + missense_variant Missense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 115 13 95 0 ENST00000368002.3:c.940C>A p.His314Asn p.H314N ENST00000368002 NM_001014443.2 314 Cac/Aac 0 -VAX1 UCSF GRCh37 10 118893633 118893633 + synonymous_variant Silent SNP A A C NOVEL P07_Rec Untested WXS Illumina HiSeq 10 4 20 0 ENST00000369206.5:c.891T>G p.Gly297= p.G297= ENST00000369206 NM_001112704.1 297 ggT/ggG 0 -VGF UCSF GRCh37 7 100806737 100806737 + missense_variant Missense_Mutation SNP T T G NOVEL P07_Rec Untested WXS Illumina HiSeq 24 9 22 0 ENST00000249330.2:c.1388A>C p.His463Pro p.H463P ENST00000249330 NM_003378.3 463 cAc/cCc 0 -ZCCHC16 UCSF GRCh37 X 111698509 111698513 + frameshift_variant Frame_Shift_Del DEL GAAAA GAAAA - NOVEL P07_Rec Untested WXS Illumina HiSeq 6 0 ENST00000340433.2:c.554_558del p.Glu185GlyfsTer4 p.E185Gfs*4 ENST00000340433 NM_001004308.2 185 GAAAAg/g 0 -ZNRF3 UCSF GRCh37 22 29445795 29445795 + stop_gained Nonsense_Mutation SNP C C A NOVEL P07_Rec Untested WXS Illumina HiSeq 30 7 56 0 ENST00000544604.2:c.1626C>A p.Tyr542Ter p.Y542* ENST00000544604 NM_001206998.1 542 taC/taA 0 -ACR UCSF GRCh37 22 51178337 51178337 + missense_variant Missense_Mutation SNP T T G NOVEL P08_Pri Untested WXS Illumina HiSeq 48 34 91 0 ENST00000216139.5:c.497T>G p.Phe166Cys p.F166C ENST00000216139 NM_001097.2 166 tTt/tGt 0 -ATR UCSF GRCh37 3 142176497 142176497 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P08_Pri Untested WXS Illumina HiSeq 25 0 ENST00000350721.4:c.7604del p.Ala2535AspfsTer6 p.A2535Dfs*6 ENST00000350721 NM_001184.3 2535 gCa/ga 0 -ATRX UCSF GRCh37 X 76938089 76938090 + frameshift_variant Frame_Shift_Del DEL TC TC - NOVEL P08_Pri Untested WXS Illumina HiSeq 26 0 ENST00000373344.5:c.2658_2659del p.Glu886AspfsTer10 p.E886Dfs*10 ENST00000373344 NM_000489.3 886 gaGAct/gact 0 -BMP10 UCSF GRCh37 2 69092971 69092971 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 62 13 141 0 ENST00000295379.1:c.1067G>A p.Cys356Tyr p.C356Y ENST00000295379 NM_014482.1 356 tGt/tAt 0 -CCDC91 UCSF GRCh37 12 28603099 28603099 + missense_variant Missense_Mutation SNP G G T NOVEL P08_Pri Untested WXS Illumina HiSeq 74 15 153 0 ENST00000545336.1:c.768G>T p.Gln256His p.Q256H ENST00000545336 256 caG/caT 0 -CNOT6 UCSF GRCh37 5 179977041 179977041 + missense_variant Missense_Mutation SNP A A C NOVEL P08_Pri Untested WXS Illumina HiSeq 61 7 152 0 ENST00000393356.1:c.223A>C p.Asn75His p.N75H ENST00000393356 75 Aat/Cat 0 -COG4 UCSF GRCh37 16 70551568 70551568 + synonymous_variant Silent SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 58 8 131 0 ENST00000323786.5:c.330G>A p.Glu110= p.E110= ENST00000323786 NM_015386.2 110 gaG/gaA 0 -CPNE8 UCSF GRCh37 12 39047732 39047732 + synonymous_variant Silent SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 43 23 95 0 ENST00000331366.5:c.1647G>A p.Ala549= p.A549= ENST00000331366 NM_153634.2 549 gcG/gcA 0 -DDX60 UCSF GRCh37 4 169194524 169194524 + missense_variant Missense_Mutation SNP G G C NOVEL P08_Pri Untested WXS Illumina HiSeq 61 12 173 0 ENST00000393743.3:c.2480C>G p.Thr827Ser p.T827S ENST00000393743 NM_017631.5 827 aCt/aGt 0 -FANCF UCSF GRCh37 11 22646911 22646911 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Pri Untested WXS Illumina HiSeq 42 19 170 0 ENST00000327470.3:c.446A>G p.Asn149Ser p.N149S ENST00000327470 NM_022725.3 149 aAt/aGt 0 -GGT7 UCSF GRCh37 20 33440238 33440238 + stop_gained Nonsense_Mutation SNP G G A NOVEL P08_Pri Untested WXS Illumina HiSeq 34 15 92 0 ENST00000336431.5:c.1423C>T p.Gln475Ter p.Q475* ENST00000336431 NM_178026.2 475 Cag/Tag 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 65 20 143 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -MSTN UCSF GRCh37 2 190925003 190925003 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Pri Untested WXS Illumina HiSeq 77 38 204 0 ENST00000260950.4:c.532A>G p.Lys178Glu p.K178E ENST00000260950 NM_005259.2 178 Aaa/Gaa 0 -MYF5 UCSF GRCh37 12 81110945 81110945 + stop_gained Nonsense_Mutation SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 21 6 46 0 ENST00000228644.3:c.103C>T p.Arg35Ter p.R35* ENST00000228644 NM_005593.2 35 Cga/Tga 0 -NBAS UCSF GRCh37 2 15679476 15679476 + synonymous_variant Silent SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 68 15 152 0 ENST00000281513.5:c.384G>A p.Pro128= p.P128= ENST00000281513 NM_015909.3 128 ccG/ccA 0 -PIK3C2B UCSF GRCh37 1 204400818 204400818 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P08_Pri Untested WXS Illumina HiSeq 6 0 ENST00000367187.3:c.4259del p.Phe1420SerfsTer14 p.F1420Sfs*14 ENST00000367187 NM_002646.3 1420 tTc/tc 0 -PRMT5 UCSF GRCh37 14 23396859 23396859 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Pri somatic WXS Sanger Illumina HiSeq 52 20 110 0 ENST00000324366.8:c.326A>G p.Gln109Arg p.Q109R ENST00000324366 NM_006109.3 109 cAg/cGg 0 -RP1 UCSF GRCh37 8 55538949 55538949 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 92 18 144 0 ENST00000220676.1:c.2507C>T p.Pro836Leu p.P836L ENST00000220676 NM_006269.1 836 cCg/cTg 0 -TBCE UCSF GRCh37 1 235600735 235600735 + synonymous_variant Silent SNP G G A NOVEL P08_Pri Untested WXS Illumina HiSeq 34 23 97 0 ENST00000366601.3:c.1062G>A p.Ala354= p.A354= ENST00000366601 354 gcG/gcA 0 -TP53 UCSF GRCh37 17 7577099 7577099 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Pri Untested WXS Illumina HiSeq 10 20 65 0 ENST00000269305.4:c.839G>A p.Arg280Lys p.R280K ENST00000269305 NM_001126112.2 280 aGa/aAa 0 -USH2A UCSF GRCh37 1 215901628 215901628 + missense_variant Missense_Mutation SNP A A G NOVEL P08_Pri Untested WXS Illumina HiSeq 55 19 179 0 ENST00000307340.3:c.11810T>C p.Leu3937Pro p.L3937P ENST00000307340 NM_206933.2 3937 cTc/cCc 0 -USH2A UCSF GRCh37 1 216363700 216363700 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Pri Untested WXS Illumina HiSeq 80 25 185 0 ENST00000307340.3:c.4261A>G p.Thr1421Ala p.T1421A ENST00000307340 NM_206933.2 1421 Act/Gct 0 -WDR63 UCSF GRCh37 1 85583512 85583512 + missense_variant Missense_Mutation SNP C C G NOVEL P08_Pri Untested WXS Illumina HiSeq 64 33 194 0 ENST00000294664.6:c.1887C>G p.Asp629Glu p.D629E ENST00000294664 NM_145172.3 629 gaC/gaG 0 -ZBTB20 UCSF GRCh37 3 114070562 114070564 + inframe_deletion In_Frame_Del DEL CAC CAC - NOVEL P08_Pri Untested WXS Illumina HiSeq 10 0 ENST00000474710.1:c.361_363del p.Val121del p.V121del ENST00000474710 NM_001164342.1 121 GTG/- 0 -ACR UCSF GRCh37 22 51178337 51178337 + missense_variant Missense_Mutation SNP T T G NOVEL P08_Rec Untested WXS Illumina HiSeq 61 46 91 0 ENST00000216139.5:c.497T>G p.Phe166Cys p.F166C ENST00000216139 NM_001097.2 166 tTt/tGt 0 -APOH UCSF GRCh37 17 64210715 64210718 + frameshift_variant Frame_Shift_Del DEL CTCT CTCT - NOVEL P08_Rec Untested WXS Illumina HiSeq 14 0 ENST00000205948.6:c.835_838del p.Arg279Ter p.R279* ENST00000205948 NM_000042.2 279 AGAGta/ta 0 -ATR UCSF GRCh37 3 142176497 142176497 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P08_Rec Untested WXS Illumina HiSeq 48 0 ENST00000350721.4:c.7604del p.Ala2535AspfsTer6 p.A2535Dfs*6 ENST00000350721 NM_001184.3 2535 gCa/ga 0 -ATRX UCSF GRCh37 X 76938089 76938090 + frameshift_variant Frame_Shift_Del DEL TC TC - NOVEL P08_Rec Untested WXS Illumina HiSeq 72 0 ENST00000373344.5:c.2658_2659del p.Glu886AspfsTer10 p.E886Dfs*10 ENST00000373344 NM_000489.3 886 gaGAct/gact 0 -CARM1 UCSF GRCh37 19 11024651 11024651 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 26 21 46 0 ENST00000327064.4:c.768G>A p.Ser256= p.S256= ENST00000327064 NM_199141.1 256 tcG/tcA 0 -CASP5 UCSF GRCh37 11 104869682 104869682 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 71 50 149 0 ENST00000393141.2:c.1065C>T p.Asn355= p.N355= ENST00000393141 NM_004347.3 355 aaC/aaT 0 -CENPQ UCSF GRCh37 6 49438702 49438702 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P08_Rec Untested WXS Illumina HiSeq 6 0 ENST00000335783.3:c.125del p.Asn42IlefsTer5 p.N42Ifs*5 ENST00000335783 NM_018132.3 40 Aaa/aa 0 -CNOT6 UCSF GRCh37 5 179977041 179977041 + missense_variant Missense_Mutation SNP A A C NOVEL P08_Rec Untested WXS Illumina HiSeq 24 76 152 0 ENST00000393356.1:c.223A>C p.Asn75His p.N75H ENST00000393356 75 Aat/Cat 0 -COL12A1 UCSF GRCh37 6 75829108 75829108 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 88 50 196 0 ENST00000322507.8:c.7168G>A p.Ala2390Thr p.A2390T ENST00000322507 NM_004370.5 2390 Gcc/Acc 0 -COL27A1 UCSF GRCh37 9 117002729 117002729 + stop_gained Nonsense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 60 44 101 0 ENST00000356083.3:c.2797C>T p.Arg933Ter p.R933* ENST00000356083 NM_032888.2 933 Cga/Tga 0 -CPNE8 UCSF GRCh37 12 39047732 39047732 + synonymous_variant Silent SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 55 33 95 0 ENST00000331366.5:c.1647G>A p.Ala549= p.A549= ENST00000331366 NM_153634.2 549 gcG/gcA 0 -CSPG4 UCSF GRCh37 15 75982257 75982257 + synonymous_variant Silent SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 30 4 31 1 ENST00000308508.5:c.1149G>A p.Glu383= p.E383= ENST00000308508 NM_001897.4 383 gaG/gaA 0 -CUL9 UCSF GRCh37 6 43190347 43190347 + missense_variant Missense_Mutation SNP G G T NOVEL P08_Rec Untested WXS Illumina HiSeq 16 11 40 0 ENST00000252050.4:c.7000G>T p.Asp2334Tyr p.D2334Y ENST00000252050 NM_015089.2 2334 Gat/Tat 0 -CYSLTR1 UCSF GRCh37 X 77528900 77528900 + missense_variant Missense_Mutation SNP G G C NOVEL P08_Rec Untested WXS Illumina HiSeq 19 44 63 0 ENST00000373304.3:c.344C>G p.Thr115Arg p.T115R ENST00000373304 NM_001282188.1 115 aCa/aGa 0 -DDX60 UCSF GRCh37 4 169194524 169194524 + missense_variant Missense_Mutation SNP G G C NOVEL P08_Rec Untested WXS Illumina HiSeq 13 53 173 0 ENST00000393743.3:c.2480C>G p.Thr827Ser p.T827S ENST00000393743 NM_017631.5 827 aCt/aGt 0 -DTNA UCSF GRCh37 18 32407604 32407604 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 14 119 184 0 ENST00000598334.1:c.1049C>T p.Ser350Phe p.S350F ENST00000598334 NM_001198938.1 350 tCt/tTt 0 -EIF2AK3 UCSF GRCh37 2 88874385 88874385 + synonymous_variant Silent SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 123 89 254 0 ENST00000303236.3:c.2616A>G p.Thr872= p.T872= ENST00000303236 NM_004836.5 872 acA/acG 0 -FANCF UCSF GRCh37 11 22646911 22646911 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 65 55 170 0 ENST00000327470.3:c.446A>G p.Asn149Ser p.N149S ENST00000327470 NM_022725.3 149 aAt/aGt 0 -FCRL6 UCSF GRCh37 1 159779338 159779338 + missense_variant Missense_Mutation SNP C C G NOVEL P08_Rec Untested WXS Illumina HiSeq 42 36 99 0 ENST00000368106.3:c.751C>G p.His251Asp p.H251D ENST00000368106 NM_001004310.2 251 Cac/Gac 0 -GGT7 UCSF GRCh37 20 33440238 33440238 + stop_gained Nonsense_Mutation SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 41 42 92 0 ENST00000336431.5:c.1423C>T p.Gln475Ter p.Q475* ENST00000336431 NM_178026.2 475 Cag/Tag 0 -GNAS UCSF GRCh37 20 57429479 57429479 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 20 14 33 0 ENST00000371100.4:c.1159T>C p.Ser387Pro p.S387P ENST00000371100 NM_001077490.1 387 Tca/Cca 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 92 62 143 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IFRD2 UCSF GRCh37 3 50326696 50326696 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 13 8 36 0 ENST00000429673.2:c.1067G>A p.Arg356Gln p.R356Q ENST00000429673 356 cGg/cAg 0 -IGSF10 UCSF GRCh37 3 151165459 151165459 + missense_variant Missense_Mutation SNP G G C NOVEL P08_Rec Untested WXS Illumina HiSeq 76 63 139 0 ENST00000282466.3:c.2310C>G p.Asp770Glu p.D770E ENST00000282466 NM_178822.4 770 gaC/gaG 0 -INTS1 UCSF GRCh37 7 1515927 1515927 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 13 8 18 0 ENST00000404767.3:c.5316C>T p.Asp1772= p.D1772= ENST00000404767 NM_001080453.2 1772 gaC/gaT 0 -KIAA0564 UCSF GRCh37 13 42295529 42295529 + missense_variant Missense_Mutation SNP C C A NOVEL P08_Rec Untested WXS Illumina HiSeq 109 59 207 1 ENST00000379310.3:c.2941G>T p.Val981Phe p.V981F ENST00000379310 NM_015058.1 981 Gtc/Ttc 0 -LDHB UCSF GRCh37 12 21791391 21791411 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region DEL ACTCCACACAGCCACTGTTTA ACTCCACACAGCCACTGTTTA CCTCCACACAGCCCCTGTTT NOVEL P08_Rec Untested WXS Illumina HiSeq 8 0 ENST00000396076.1:c.596-7_609delinsAAACAGGGGCTGTGTGGAGG p.X199_splice ENST00000396076 NM_001174097.1 0 -MAPK14 UCSF GRCh37 6 35996040 35996040 + missense_variant Missense_Mutation SNP G G T NOVEL P08_Rec Untested WXS Illumina HiSeq 14 11 38 0 ENST00000229795.3:c.106G>T p.Gly36Cys p.G36C ENST00000229795 NM_001315.2 36 Ggc/Tgc 0 -MBNL1 UCSF GRCh37 3 152132729 152132729 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 101 71 151 0 ENST00000282486.6:c.175-1G>A p.X59_splice ENST00000282486 0 -MLLT4 UCSF GRCh37 6 168299038 168299038 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P08_Rec Untested WXS Illumina HiSeq 41 0 ENST00000392108.3:c.1473del p.Phe491LeufsTer27 p.F491Lfs*27 ENST00000392108 NM_001040000.2 491 Ttt/tt 0 -MPO UCSF GRCh37 17 56349077 56349077 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 26 24 75 0 ENST00000225275.3:c.1969G>A p.Val657Met p.V657M ENST00000225275 NM_000250.1 657 Gtg/Atg 0 -MSTN UCSF GRCh37 2 190925003 190925003 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 112 82 204 0 ENST00000260950.4:c.532A>G p.Lys178Glu p.K178E ENST00000260950 NM_005259.2 178 Aaa/Gaa 0 -MUC2 UCSF GRCh37 11 1103572 1103572 + missense_variant Missense_Mutation SNP G G T NOVEL P08_Rec Untested WXS Illumina HiSeq 13 2 23 0 ENST00000441003.2:c.8085G>T p.Met2695Ile p.M2695I ENST00000441003 NM_002457.2 2695 atG/atT 0 -MYF5 UCSF GRCh37 12 81110945 81110945 + stop_gained Nonsense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 34 21 46 0 ENST00000228644.3:c.103C>T p.Arg35Ter p.R35* ENST00000228644 NM_005593.2 35 Cga/Tga 0 -MYO1A UCSF GRCh37 12 57423580 57423580 + stop_gained Nonsense_Mutation SNP C C A NOVEL P08_Rec Untested WXS Illumina HiSeq 72 47 93 0 ENST00000442789.2:c.2668G>T p.Glu890Ter p.E890* ENST00000442789 NM_001256041.1 890 Gag/Tag 0 -NKX2-2 UCSF GRCh37 20 21492891 21492892 + inframe_insertion In_Frame_Ins INS - - GAGGCTGGCCAG NOVEL P08_Rec Untested WXS Illumina HiSeq 8 0 ENST00000377142.4:c.492_493insTGGCCAGCCTCC p.Leu164_Ile165insTrpProAlaSer p.L164_I165insWPAS ENST00000377142 NM_002509.3 164 ctc/ctCTGGCCAGCCTCc 0 -NPTX2 UCSF GRCh37 7 98254278 98254278 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 82 78 158 0 ENST00000265634.3:c.688C>T p.Pro230Ser p.P230S ENST00000265634 NM_002523.2 230 Cca/Tca 0 -OR2L2 UCSF GRCh37 1 248202417 248202417 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 166 109 234 0 ENST00000366479.2:c.848T>C p.Met283Thr p.M283T ENST00000366479 NM_001004686.2 283 aTg/aCg 0 -OR51B4 UCSF GRCh37 11 5322448 5322448 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 67 50 163 0 ENST00000380224.1:c.729C>T p.Ser243= p.S243= ENST00000380224 NM_033179.2 243 agC/agT 0 -OR5M9 UCSF GRCh37 11 56230866 56230866 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 29 30 85 0 ENST00000279791.1:c.12C>T p.Phe4= p.F4= ENST00000279791 NM_001004743.1 4 ttC/ttT 0 -OR6N2 UCSF GRCh37 1 158746563 158746563 + missense_variant Missense_Mutation SNP A A T NOVEL P08_Rec Untested WXS Illumina HiSeq 116 86 239 0 ENST00000339258.1:c.863T>A p.Ile288Asn p.I288N ENST00000339258 NM_001005278.1 288 aTt/aAt 0 -PDCL UCSF GRCh37 9 125585446 125585446 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 97 69 178 0 ENST00000259467.4:c.203G>A p.Arg68His p.R68H ENST00000259467 NM_005388.4 68 cGc/cAc 0 -PLD3 UCSF GRCh37 19 40882596 40882596 + stop_gained Nonsense_Mutation SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 33 4 65 0 ENST00000409587.1:c.1100G>A p.Trp367Ter p.W367* ENST00000409587 367 tGg/tAg 0 -PLIN2 UCSF GRCh37 9 19123586 19123586 + missense_variant Missense_Mutation SNP T T A NOVEL P08_Rec Untested WXS Illumina HiSeq 123 72 189 0 ENST00000276914.2:c.286A>T p.Ile96Phe p.I96F ENST00000276914 NM_001122.3 96 Att/Ttt 0 -PRMT5 UCSF GRCh37 14 23396859 23396859 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Rec somatic WXS Sanger Illumina HiSeq 87 55 110 0 ENST00000324366.8:c.326A>G p.Gln109Arg p.Q109R ENST00000324366 NM_006109.3 109 cAg/cGg 0 -RNASEL UCSF GRCh37 1 182550475 182550475 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 129 105 195 0 ENST00000367559.3:c.1790G>A p.Arg597Gln p.R597Q ENST00000367559 NM_021133.3 597 cGg/cAg 0 -SHISA3 UCSF GRCh37 4 42403378 42403378 + synonymous_variant Silent SNP T T G NOVEL P08_Rec Untested WXS Illumina HiSeq 61 25 101 0 ENST00000319234.4:c.627T>G p.Gly209= p.G209= ENST00000319234 NM_001080505.1 209 ggT/ggG 0 -SLC6A13 UCSF GRCh37 12 332297 332297 + splice_donor_variant Splice_Site SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 29 16 63 0 ENST00000343164.4:c.1414+1G>A p.X472_splice ENST00000343164 NM_016615.4 0 -SLC6A3 UCSF GRCh37 5 1441532 1441532 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 26 18 59 0 ENST00000270349.9:c.360C>T p.Leu120= p.L120= ENST00000270349 NM_001044.4 120 ctC/ctT 0 -SSC5D UCSF GRCh37 19 56001358 56001358 + synonymous_variant Silent SNP A A T NOVEL P08_Rec Untested WXS Illumina HiSeq 3 11 30 0 ENST00000389623.6:c.471A>T p.Thr157= p.T157= ENST00000389623 NM_001144950.1 157 acA/acT 0 -TBCE UCSF GRCh37 1 235600735 235600735 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 57 37 97 0 ENST00000366601.3:c.1062G>A p.Ala354= p.A354= ENST00000366601 354 gcG/gcA 0 -TCP10L2 UCSF GRCh37 6 167585753 167585753 + missense_variant Missense_Mutation SNP G G T NOVEL P08_Rec Untested WXS Illumina HiSeq 27 5 46 0 ENST00000366832.2:c.121G>T p.Asp41Tyr p.D41Y ENST00000366832 NM_001145121.1 41 Gac/Tac 0 -TNRC6A UCSF GRCh37 16 24802604 24802604 + missense_variant Missense_Mutation SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 74 60 153 0 ENST00000395799.3:c.2641G>A p.Asp881Asn p.D881N ENST00000395799 NM_014494.2 881 Gac/Aac 0 -TP53 UCSF GRCh37 17 7577099 7577099 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 7 81 65 0 ENST00000269305.4:c.839G>A p.Arg280Lys p.R280K ENST00000269305 NM_001126112.2 280 aGa/aAa 0 -TTLL3 UCSF GRCh37 3 9852311 9852311 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 15 3 23 0 ENST00000426895.4:c.395C>T p.Pro132Leu p.P132L ENST00000426895 132 cCg/cTg 0 -TTN UCSF GRCh37 2 179568917 179568917 + synonymous_variant Silent SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 127 91 255 0 ENST00000589042.1:c.30180C>T p.Cys10060= p.C10060= ENST00000589042 NM_001267550.1 10060 tgC/tgT 0 -USH2A UCSF GRCh37 1 215901628 215901628 + missense_variant Missense_Mutation SNP A A G NOVEL P08_Rec Untested WXS Illumina HiSeq 85 53 179 0 ENST00000307340.3:c.11810T>C p.Leu3937Pro p.L3937P ENST00000307340 NM_206933.2 3937 cTc/cCc 0 -USH2A UCSF GRCh37 1 216144109 216144109 + missense_variant Missense_Mutation SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 189 27 196 0 ENST00000307340.3:c.6815C>T p.Thr2272Met p.T2272M ENST00000307340 NM_206933.2 2272 aCg/aTg 0 -USH2A UCSF GRCh37 1 216363700 216363700 + missense_variant Missense_Mutation SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 108 66 185 0 ENST00000307340.3:c.4261A>G p.Thr1421Ala p.T1421A ENST00000307340 NM_206933.2 1421 Act/Gct 0 -USP29 UCSF GRCh37 19 57640261 57640261 + missense_variant Missense_Mutation SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 78 9 127 0 ENST00000254181.4:c.218G>A p.Arg73His p.R73H ENST00000254181 NM_020903.2 73 cGt/cAt 0 -WBSCR28 UCSF GRCh37 7 73279585 73279585 + missense_variant Missense_Mutation SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 46 6 38 0 ENST00000320531.2:c.335C>T p.Ala112Val p.A112V ENST00000320531 NM_182504.3 112 gCc/gTc 0 -WDR63 UCSF GRCh37 1 85583512 85583512 + missense_variant Missense_Mutation SNP C C G NOVEL P08_Rec Untested WXS Illumina HiSeq 102 85 194 0 ENST00000294664.6:c.1887C>G p.Asp629Glu p.D629E ENST00000294664 NM_145172.3 629 gaC/gaG 0 -WT1 UCSF GRCh37 11 32449529 32449529 + missense_variant Missense_Mutation SNP G G A NOVEL P08_Rec Untested WXS Illumina HiSeq 11 6 17 0 ENST00000332351.3:c.845C>T p.Ala282Val p.A282V ENST00000332351 NM_024426.4 282 gCt/gTt 0 -XPO6 UCSF GRCh37 16 28146612 28146612 + synonymous_variant Silent SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 70 50 114 0 ENST00000304658.5:c.1368G>A p.Glu456= p.E456= ENST00000304658 NM_015171.3 456 gaG/gaA 0 -ZNF596 UCSF GRCh37 8 193006 193006 + synonymous_variant Silent SNP C C T NOVEL P08_Rec Untested WXS Illumina HiSeq 67 36 89 0 ENST00000398612.1:c.132C>T p.Val44= p.V44= ENST00000398612 NM_001042415.1 44 gtC/gtT 0 -ZNF804B UCSF GRCh37 7 88962812 88962812 + synonymous_variant Silent SNP T T C NOVEL P08_Rec Untested WXS Illumina HiSeq 98 75 209 0 ENST00000333190.4:c.516T>C p.Asn172= p.N172= ENST00000333190 NM_181646.2 172 aaT/aaC 0 -ATRX UCSF GRCh37 X 76954101 76954101 + synonymous_variant Silent SNP A A G NOVEL P09_Pri Untested WXS Illumina HiSeq 8 56 69 0 ENST00000373344.5:c.150T>C p.Ser50= p.S50= ENST00000373344 NM_000489.3 50 tcT/tcC 0 -GAGE2D UCSF GRCh37 X 49208299 49208313 + protein_altering_variant In_Frame_Ins INS CGGCCTAGACCAAGA CGGCCTAGACCAAGA TATTGGCCTAGACCAAGG NOVEL P09_Pri Untested WXS Illumina HiSeq 8 0 ENST00000404720.2:c.28_42delinsTATTGGCCTAGACCAAGG p.Arg10delinsTyrTrp p.R10delinsYW ENST00000404720 NM_001098407.1 10 CGGCCTAGACCAAGA/TATTGGCCTAGACCAAGG 0 -GOLGA6B UCSF GRCh37 15 72954702 72954702 + synonymous_variant Silent SNP A A G snp132_rs74793989 P09_Pri Untested WXS Illumina HiSeq 29 4 76 1 ENST00000421285.3:c.957A>G p.Gln319= p.Q319= ENST00000421285 NM_018652.4 319 caA/caG 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P09_Pri Untested WXS Illumina HiSeq 47 40 81 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -OR4C6 UCSF GRCh37 11 55433016 55433016 + missense_variant Missense_Mutation SNP G G T NOVEL P09_Pri somatic WXS Sanger Illumina HiSeq 59 22 107 0 ENST00000314259.3:c.374G>T p.Cys125Phe p.C125F ENST00000314259 NM_001004704.1 125 tGt/tTt 0 -PDE4DIP UCSF GRCh37 1 144886132 144886132 + synonymous_variant Silent SNP A A G NOVEL P09_Pri Untested WXS Illumina HiSeq 91 33 144 0 ENST00000369356.4:c.3102T>C p.Ile1034= p.I1034= ENST00000369356 NM_014644.5 1034 atT/atC 0 -SLC38A10 UCSF GRCh37 17 79268677 79268677 + synonymous_variant Silent SNP G G A NOVEL P09_Pri Untested WXS Illumina HiSeq 29 11 35 0 ENST00000374759.3:c.45C>T p.Ile15= p.I15= ENST00000374759 NM_001037984.1 15 atC/atT 0 -TP53 UCSF GRCh37 17 7578479 7578479 + missense_variant Missense_Mutation SNP G G C NOVEL P09_Pri Untested WXS Illumina HiSeq 4 32 48 0 ENST00000269305.4:c.451C>G p.Pro151Ala p.P151A ENST00000269305 NM_001126112.2 151 Ccc/Gcc 0 -UGT2A3 UCSF GRCh37 4 69817137 69817138 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P09_Pri Untested WXS Illumina HiSeq 12 0 ENST00000251566.4:c.342dup p.Val115CysfsTer2 p.V115Cfs*2 ENST00000251566 NM_024743.3 114 ttt/ttTt 0 -ABCB4 UCSF GRCh37 7 87079392 87079392 + missense_variant Missense_Mutation SNP C C T NOVEL P09_Rec Untested WXS Illumina HiSeq 124 49 92 0 ENST00000265723.4:c.725G>A p.Ser242Asn p.S242N ENST00000265723 NM_000443.3 242 aGt/aAt 0 -ASB14 UCSF GRCh37 3 57322030 57322030 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P09_Rec Untested WXS Illumina HiSeq 6 0 ENST00000487349.1:c.368del p.Leu123TrpfsTer8 p.L123Wfs*8 ENST00000487349 NM_001142733.2 123 tTg/tg 0 -ATRX UCSF GRCh37 X 76954101 76954101 + synonymous_variant Silent SNP A A G NOVEL P09_Rec Untested WXS Illumina HiSeq 71 42 69 0 ENST00000373344.5:c.150T>C p.Ser50= p.S50= ENST00000373344 NM_000489.3 50 tcT/tcC 0 -LIAT1 UCSF GRCh37 17 263615 263615 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0396,snp132_rs75457484 P09_Rec Untested WXS Illumina HiSeq 45 6 23 1 ENST00000360127.6:c.981C>T p.Pro327= p.P327= ENST00000360127 NM_001013672.4 327 ccC/ccT 0 -CCHCR1 UCSF GRCh37 6 31113527 31113527 + missense_variant Missense_Mutation SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 89 40 49 1 ENST00000396268.3:c.1639C>T p.Pro547Ser p.P547S ENST00000396268 NM_001105563.1 547 Ccc/Tcc 0 -DYSF UCSF GRCh37 2 71896760 71896760 + missense_variant Missense_Mutation SNP A A G NOVEL P09_Rec Untested WXS Illumina HiSeq 130 46 99 0 ENST00000410020.3:c.5668A>G p.Lys1890Glu p.K1890E ENST00000410020 NM_001130987.1 1890 Aag/Gag 0 -DYSF UCSF GRCh37 2 71896763 71896763 + missense_variant Missense_Mutation SNP C C G NOVEL P09_Rec Untested WXS Illumina HiSeq 126 46 97 0 ENST00000410020.3:c.5671C>G p.Gln1891Glu p.Q1891E ENST00000410020 NM_001130987.1 1891 Caa/Gaa 0 -FAM46B UCSF GRCh37 1 27333030 27333038 + frameshift_variant Frame_Shift_Del DEL AGCAACAGG AGCAACAGG CGACA NOVEL P09_Rec Untested WXS Illumina HiSeq 14 0 ENST00000289166.5:c.675_683delinsTGTCG p.Leu226ValfsTer97 p.L226Vfs*97 ENST00000289166 NM_052943.3 225 tcCCTGTTGCTc/tcTGTCGc 0 -FAM48B2 UCSF GRCh37 X 24330042 24330042 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P09_Rec Untested WXS Illumina HiSeq 16 6 18 0 ENST00000536351.1:n.1391G>A *464* ENST00000536351 0 -GAGE2D UCSF GRCh37 X 49208299 49208313 + protein_altering_variant In_Frame_Ins INS CGGCCTAGACCAAGA CGGCCTAGACCAAGA TATTGGCCTAGACCAAGG NOVEL P09_Rec Untested WXS Illumina HiSeq 6 0 ENST00000404720.2:c.28_42delinsTATTGGCCTAGACCAAGG p.Arg10delinsTyrTrp p.R10delinsYW ENST00000404720 NM_001098407.1 10 CGGCCTAGACCAAGA/TATTGGCCTAGACCAAGG 0 -HHIP UCSF GRCh37 4 145580034 145580034 + missense_variant Missense_Mutation SNP A A G NOVEL P09_Rec Untested WXS Illumina HiSeq 95 22 117 0 ENST00000296575.3:c.565A>G p.Arg189Gly p.R189G ENST00000296575 NM_022475.2 189 Aga/Gga 0 -HLA-C UCSF GRCh37 6 31239060 31239060 + missense_variant Missense_Mutation SNP A A G 1000g2010nov_all_0.113,1000g2011may_all_0.1122,snp132_rs114934942 P09_Rec Untested WXS Illumina HiSeq 50 16 31 1 ENST00000376228.5:c.409T>C p.Tyr137His p.Y137H ENST00000376228 NM_002117.5 137 Tat/Cat 0 -HLA-G UCSF GRCh37 6 29797406 29797406 + synonymous_variant Silent SNP G G A snp132_rs79264452 P09_Rec Untested WXS Illumina HiSeq 117 18 90 1 ENST00000428701.1:c.831G>A p.Glu277= p.E277= ENST00000428701 NM_002127.5 277 gaG/gaA 0 -HLA-G UCSF GRCh37 6 29797436 29797436 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.113,snp132_rs115797657 P09_Rec Untested WXS Illumina HiSeq 110 18 74 1 ENST00000428701.1:c.861T>C p.His287= p.H287= ENST00000428701 NM_002127.5 287 caT/caC 0 -HOXB2 UCSF GRCh37 17 46622047 46622047 + missense_variant Missense_Mutation SNP G G C NOVEL P09_Rec Untested WXS Illumina HiSeq 34 5 36 0 ENST00000330070.4:c.227C>G p.Pro76Arg p.P76R ENST00000330070 NM_002145.3 76 cCt/cGt 0 -ICK UCSF GRCh37 6 52880927 52880927 + missense_variant Missense_Mutation SNP C C G NOVEL P09_Rec Untested WXS Illumina HiSeq 120 32 107 0 ENST00000356971.3:c.785G>C p.Arg262Thr p.R262T ENST00000356971 NM_016513.4 262 aGa/aCa 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P09_Rec Untested WXS Illumina HiSeq 119 30 81 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGF2 UCSF GRCh37 11 2154787 2154794 + frameshift_variant Frame_Shift_Del DEL TTGGCGGG TTGGCGGG - NOVEL P09_Rec Untested WXS Illumina HiSeq 10 0 ENST00000434045.2:c.427_434del p.Pro143ValfsTer28 p.P143Vfs*28 ENST00000434045 NM_001127598.1 143 CCCGCCAAg/g 0 -INTS6 UCSF GRCh37 13 51957526 51957529 + frameshift_variant Frame_Shift_Del DEL TGCT TGCT - NOVEL P09_Rec Untested WXS Illumina HiSeq 17 0 ENST00000311234.4:c.1116_1119del p.Ala373Ter p.A373* ENST00000311234 NM_012141.2 372 acAGCA/ac 0 -JARID2 UCSF GRCh37 6 15468893 15468893 + missense_variant Missense_Mutation SNP C C T NOVEL P09_Rec Untested WXS Illumina HiSeq 187 61 85 0 ENST00000341776.2:c.614C>T p.Ser205Leu p.S205L ENST00000341776 NM_004973.3 205 tCa/tTa 0 -MUC4 UCSF GRCh37 3 195507919 195507919 + missense_variant Missense_Mutation SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 36 9 57 1 ENST00000463781.3:c.10532C>T p.Ser3511Phe p.S3511F ENST00000463781 NM_018406.6 3511 tCc/tTc 0 -NUDT10 UCSF GRCh37 X 51075841 51075841 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.07393,1000g2011may_all_0.2097,snp132_rs2625875 P09_Rec Untested WXS Illumina HiSeq 28 4 19 0 ENST00000376006.3:c.24A>G p.Thr8= p.T8= ENST00000376006 NM_153183.2 8 acA/acG 0 -NUDT10 UCSF GRCh37 X 51076024 51076024 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.00397,1000g2011may_all_0.0126,snp132_rs2801626 P09_Rec Untested WXS Illumina HiSeq 36 4 34 0 ENST00000376006.3:c.207G>A p.Glu69= p.E69= ENST00000376006 NM_153183.2 69 gaG/gaA 0 -OAS2 UCSF GRCh37 12 113448284 113448309 + stop_lost,3_prime_UTR_variant Nonstop_Mutation DEL TTCTAGAGATCATCTGGCAATCGCTT TTCTAGAGATCATCTGGCAATCGCTT - NOVEL P09_Rec Untested WXS Illumina HiSeq 26 0 ENST00000342315.4:c.2157_*22del *719* ENST00000342315 NM_016817.2 719 0 -OR10C1 UCSF GRCh37 6 29408542 29408542 + missense_variant Missense_Mutation SNP C C G NOVEL P09_Rec Untested WXS Illumina HiSeq 165 105 115 0 ENST00000444197.2:c.750C>G p.Phe250Leu p.F250L ENST00000444197 NM_013941.3 250 ttC/ttG 0 -OR11G2 UCSF GRCh37 14 20665692 20665692 + synonymous_variant Silent SNP T T C NOVEL P09_Rec Untested WXS Illumina HiSeq 87 36 66 0 ENST00000357366.3:c.198T>C p.Phe66= p.F66= ENST00000357366 NM_001005503.1 66 ttT/ttC 0 -OR4C6 UCSF GRCh37 11 55433016 55433016 + missense_variant Missense_Mutation SNP G G T NOVEL P09_Rec somatic WXS Sanger Illumina HiSeq 87 41 107 0 ENST00000314259.3:c.374G>T p.Cys125Phe p.C125F ENST00000314259 NM_001004704.1 125 tGt/tTt 0 -PCF11 UCSF GRCh37 11 82877718 82877718 + synonymous_variant Silent SNP T T C NOVEL P09_Rec Untested WXS Illumina HiSeq 179 131 184 0 ENST00000298281.4:c.1779T>C p.Ser593= p.S593= ENST00000298281 NM_015885.3 593 tcT/tcC 0 -PDE4DIP UCSF GRCh37 1 144886132 144886132 + synonymous_variant Silent SNP A A G NOVEL P09_Rec Untested WXS Illumina HiSeq 171 32 144 0 ENST00000369356.4:c.3102T>C p.Ile1034= p.I1034= ENST00000369356 NM_014644.5 1034 atT/atC 0 -PHF3 UCSF GRCh37 6 64419048 64419048 + missense_variant,splice_region_variant Missense_Mutation SNP A A G NOVEL P09_Rec Untested WXS Illumina HiSeq 91 36 82 0 ENST00000262043.3:c.3713A>G p.Asp1238Gly p.D1238G ENST00000262043 1238 gAc/gGc 0 -PPFIBP1 UCSF GRCh37 12 27825398 27825415 + inframe_deletion,splice_region_variant In_Frame_Del DEL AACTGTGTGATAAACTTT AACTGTGTGATAAACTTT - NOVEL P09_Rec Untested WXS Illumina HiSeq 9 0 ENST00000318304.8:c.1352_1369del p.Gln451_Leu456del p.Q451_L456del ENST00000318304 NM_177444.2 451 cAACTGTGTGATAAACTTTta/cta 0 -PSMD5 UCSF GRCh37 9 123595695 123595695 + synonymous_variant Silent SNP C C T NOVEL P09_Rec Untested WXS Illumina HiSeq 164 82 134 0 ENST00000210313.3:c.213G>A p.Leu71= p.L71= ENST00000210313 NM_005047.3 71 ttG/ttA 0 -SLC28A2 UCSF GRCh37 15 45561641 45561641 + missense_variant Missense_Mutation SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 111 25 96 0 ENST00000347644.3:c.1474G>A p.Glu492Lys p.E492K ENST00000347644 NM_004212.3 492 Gag/Aag 0 -SLC28A2 UCSF GRCh37 15 45561643 45561643 + missense_variant Missense_Mutation SNP G G T NOVEL P09_Rec Untested WXS Illumina HiSeq 114 26 97 0 ENST00000347644.3:c.1476G>T p.Glu492Asp p.E492D ENST00000347644 NM_004212.3 492 gaG/gaT 0 -SLC38A10 UCSF GRCh37 17 79268677 79268677 + synonymous_variant Silent SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 41 14 35 0 ENST00000374759.3:c.45C>T p.Ile15= p.I15= ENST00000374759 NM_001037984.1 15 atC/atT 0 -TAOK3 UCSF GRCh37 12 118588939 118588939 + missense_variant Missense_Mutation SNP G G T NOVEL P09_Rec Untested WXS Illumina HiSeq 102 36 82 0 ENST00000392533.3:c.2560C>A p.Gln854Lys p.Q854K ENST00000392533 NM_016281.3 854 Cag/Aag 0 -TAOK3 UCSF GRCh37 12 118588940 118588940 + synonymous_variant Silent SNP A A T NOVEL P09_Rec Untested WXS Illumina HiSeq 101 36 82 0 ENST00000392533.3:c.2559T>A p.Leu853= p.L853= ENST00000392533 NM_016281.3 853 ctT/ctA 0 -TEX11 UCSF GRCh37 X 70093131 70093131 + missense_variant Missense_Mutation SNP C C A NOVEL P09_Rec Untested WXS Illumina HiSeq 38 33 52 0 ENST00000395889.2:c.231G>T p.Trp77Cys p.W77C ENST00000395889 NM_001003811.1 77 tgG/tgT 0 -TMED1 UCSF GRCh37 19 10945980 10945980 + missense_variant Missense_Mutation SNP T T C NOVEL P09_Rec Untested WXS Illumina HiSeq 72 20 54 0 ENST00000214869.2:c.233A>G p.Gln78Arg p.Q78R ENST00000214869 NM_006858.3 78 cAg/cGg 0 -TNF UCSF GRCh37 6 31544909 31544909 + synonymous_variant Silent SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 110 38 64 0 ENST00000449264.2:c.297G>A p.Glu99= p.E99= ENST00000449264 NM_000594.3 99 gaG/gaA 0 -TNF UCSF GRCh37 6 31545161 31545161 + synonymous_variant Silent SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 112 29 65 0 ENST00000449264.2:c.549G>A p.Glu183= p.E183= ENST00000449264 NM_000594.3 183 gaG/gaA 0 -TNNI1 UCSF GRCh37 1 201380601 201380601 + missense_variant Missense_Mutation SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 47 8 42 0 ENST00000361379.4:c.340C>T p.Arg114Cys p.R114C ENST00000361379 NM_003281.3 114 Cgt/Tgt 0 -TNNT3 UCSF GRCh37 11 1955222 1955222 + missense_variant Missense_Mutation SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 21 13 33 0 ENST00000278317.6:c.350G>A p.Arg117His p.R117H ENST00000278317 NM_006757.3 117 cGc/cAc 0 -TP53 UCSF GRCh37 17 7578479 7578479 + missense_variant Missense_Mutation SNP G G C NOVEL P09_Rec Untested WXS Illumina HiSeq 31 38 48 0 ENST00000269305.4:c.451C>G p.Pro151Ala p.P151A ENST00000269305 NM_001126112.2 151 Ccc/Gcc 0 -UNC13A UCSF GRCh37 19 17756853 17756853 + missense_variant Missense_Mutation SNP C C G NOVEL P09_Rec Untested WXS Illumina HiSeq 92 54 58 0 ENST00000519716.2:c.2112G>C p.Gln704His p.Q704H ENST00000519716 NM_001080421.2 704 caG/caC 0 -UNC93B1 UCSF GRCh37 11 67763353 67763353 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P09_Rec Untested WXS Illumina HiSeq 35 7 22 1 ENST00000227471.2:c.1089C>T p.Gly363= p.G363= ENST00000227471 NM_030930.2 363 ggC/ggT 0 -USP28 UCSF GRCh37 11 113672332 113672335 + frameshift_variant Frame_Shift_Del DEL ATTA ATTA - NOVEL P09_Rec Untested WXS Illumina HiSeq 26 0 ENST00000003302.4:c.2928_2931del p.Ile976MetfsTer2 p.I976Mfs*2 ENST00000003302 NM_020886.2 976 atTAAT/at 0 -VPS35 UCSF GRCh37 16 46708258 46708258 + synonymous_variant Silent SNP T T C NOVEL P09_Rec Untested WXS Illumina HiSeq 88 40 78 0 ENST00000299138.7:c.1128A>G p.Thr376= p.T376= ENST00000299138 NM_018206.4 376 acA/acG 0 -ZNF292 UCSF GRCh37 6 87965102 87965103 + frameshift_variant Frame_Shift_Ins INS - - C NOVEL P09_Rec Untested WXS Illumina HiSeq 45 0 ENST00000369577.3:c.1757dup p.His587SerfsTer7 p.H587Sfs*7 ENST00000369577 NM_015021.1 585 -/C 0 -ABCD1 UCSF GRCh37 X 152991314 152991314 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Pri somatic WXS Sanger Illumina HiSeq 12 20 108 0 ENST00000218104.3:c.593C>T p.Thr198Met p.T198M ENST00000218104 NM_000033.3 198 aCg/aTg 0 -ADCK4 UCSF GRCh37 19 41208533 41208533 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 37 29 92 0 ENST00000324464.3:c.865C>T p.Arg289Cys p.R289C ENST00000324464 NM_024876.3 289 Cgt/Tgt 0 -ARHGEF9 UCSF GRCh37 X 62858032 62858032 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Pri Untested WXS Illumina HiSeq 11 12 49 0 ENST00000253401.6:c.1427A>G p.Asn476Ser p.N476S ENST00000253401 NM_015185.2 476 aAc/aGc 0 -ASPSCR1 UCSF GRCh37 17 79968702 79968702 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 13 9 55 1 ENST00000306729.7:c.1195G>A p.Asp399Asn p.D399N ENST00000306729 NM_001251888.1 399 Gac/Aac 0 -ATRX UCSF GRCh37 X 76814225 76814225 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Pri somatic WXS Sanger Illumina HiSeq 52 42 168 0 ENST00000373344.5:c.6419A>G p.Asn2140Ser p.N2140S ENST00000373344 NM_000489.3 2140 aAt/aGt 0 -CCDC151 UCSF GRCh37 19 11537720 11537720 + synonymous_variant Silent SNP C C T NOVEL P10_Pri Untested WXS Illumina HiSeq 13 12 52 0 ENST00000356392.4:c.585G>A p.Ala195= p.A195= ENST00000356392 NM_145045.4 195 gcG/gcA 0 -DAGLA UCSF GRCh37 11 61505189 61505189 + synonymous_variant Silent SNP C C T NOVEL P10_Pri Untested WXS Illumina HiSeq 40 17 82 0 ENST00000257215.5:c.1545C>T p.Phe515= p.F515= ENST00000257215 NM_006133.2 515 ttC/ttT 0 -DSCAM UCSF GRCh37 21 41684176 41684176 + stop_gained Nonsense_Mutation SNP T T A NOVEL P10_Pri Untested WXS Illumina HiSeq 52 16 136 0 ENST00000400454.1:c.1894A>T p.Lys632Ter p.K632* ENST00000400454 NM_001271534.1 632 Aag/Tag 0 -FAM55A UCSF GRCh37 11 114392826 114392826 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Pri Untested WXS Illumina HiSeq 62 28 186 0 ENST00000251921.2:c.1082A>G p.Lys361Arg p.K361R ENST00000251921 NM_152315.2 361 aAg/aGg 0 -FAM75C2 UCSF GRCh37 9 90746733 90746733 + non_coding_transcript_exon_variant RNA SNP C C G NOVEL P10_Pri Untested WXS Illumina HiSeq 43 25 267 1 ENST00000324915.5:n.1417G>C *473* ENST00000324915 0 -FLG UCSF GRCh37 1 152280068 152280068 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Pri Untested WXS Illumina HiSeq 30 26 214 0 ENST00000368799.1:c.7294G>A p.Gly2432Arg p.G2432R ENST00000368799 NM_002016.1 2432 Ggg/Agg 0 -FRMPD4 UCSF GRCh37 X 12734380 12734380 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Pri Untested WXS Illumina HiSeq 44 36 188 1 ENST00000380682.1:c.1802A>G p.Tyr601Cys p.Y601C ENST00000380682 NM_014728.3 601 tAt/tGt 0 -GABRE UCSF GRCh37 X 151123325 151123325 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Pri Untested WXS Illumina HiSeq 24 13 57 0 ENST00000370328.3:c.1369T>C p.Phe457Leu p.F457L ENST00000370328 NM_004961.3 457 Ttc/Ctc 0 -GTPBP1 UCSF GRCh37 22 39123237 39123237 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 7 33 150 1 ENST00000216044.5:c.1421G>A p.Arg474Gln p.R474Q ENST00000216044 NM_004286.4 474 cGg/cAg 0 -HS3ST3A1 UCSF GRCh37 17 13400067 13400067 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Pri Untested WXS Illumina HiSeq 35 16 124 0 ENST00000284110.1:c.668G>A p.Arg223Gln p.R223Q ENST00000284110 NM_006042.1 223 cGg/cAg 0 -HS3ST3B1 UCSF GRCh37 17 14248413 14248413 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 2 14 46 0 ENST00000360954.2:c.623G>A p.Arg208Gln p.R208Q ENST00000360954 NM_006041.1 208 cGg/cAg 0 -HTRA1 UCSF GRCh37 10 124248504 124248504 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 31 33 132 0 ENST00000368984.3:c.559G>A p.Glu187Lys p.E187K ENST00000368984 NM_002775.4 187 Gaa/Aaa 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Pri somatic WXS Sanger Illumina HiSeq 56 46 125 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KCNJ12 UCSF GRCh37 17 21319232 21319232 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Pri Untested WXS Illumina HiSeq 61 10 115 0 ENST00000583088.1:c.578C>T p.Thr193Met p.T193M ENST00000583088 NM_021012.4 193 aCg/aTg 0 -KRTAP4-1 UCSF GRCh37 17 39340795 39340795 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.020 P10_Pri Untested WXS Illumina HiSeq 34 6 97 1 ENST00000398472.1:c.312T>C p.Arg104= p.R104= ENST00000398472 104 cgT/cgC 0 -LCA5L UCSF GRCh37 21 40800200 40800200 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Pri Untested WXS Illumina HiSeq 67 8 182 0 ENST00000358268.2:c.220G>A p.Asp74Asn p.D74N ENST00000358268 74 Gat/Aat 0 -MYH1 UCSF GRCh37 17 10406468 10406468 + missense_variant Missense_Mutation SNP G G T NOVEL P10_Pri Untested WXS Illumina HiSeq 18 24 218 1 ENST00000226207.5:c.2789C>A p.Ala930Asp p.A930D ENST00000226207 NM_005963.3 930 gCt/gAt 0 -MYH14 UCSF GRCh37 19 50795615 50795615 + missense_variant Missense_Mutation SNP G G T NOVEL P10_Pri Untested WXS Illumina HiSeq 21 4 36 2 ENST00000601313.1:c.5225G>T p.Gly1742Val p.G1742V ENST00000601313 NM_001145809.1 1742 gGc/gTc 0 -NBPF4 UCSF GRCh37 1 108769307 108769307 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.062,1000g2011may_all_0.2082,snp132_rs2582071 P10_Pri Untested WXS Illumina HiSeq 34 5 70 1 ENST00000415641.3:c.1869C>T p.Ser623= p.S623= ENST00000415641 NM_001143989.2 623 agC/agT 0 -NLGN4X UCSF GRCh37 X 5821576 5821576 + synonymous_variant Silent SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 26 23 150 0 ENST00000381095.3:c.1143C>T p.Asp381= p.D381= ENST00000381095 NM_181332.1 381 gaC/gaT 0 -OR4K15 UCSF GRCh37 14 20444624 20444624 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Pri Untested WXS Illumina HiSeq 36 26 172 0 ENST00000305051.5:c.947A>G p.Lys316Arg p.K316R ENST00000305051 NM_001005486.1 316 aAa/aGa 0 -PLXNA4 UCSF GRCh37 7 131831322 131831322 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 51 25 172 0 ENST00000359827.3:c.5002C>T p.Arg1668Trp p.R1668W ENST00000359827 1668 Cgg/Tgg 0 -PTK2 UCSF GRCh37 8 141829029 141829043 + inframe_deletion In_Frame_Del DEL GGATCTCAAAGAATT GGATCTCAAAGAATT - NOVEL P10_Pri Untested WXS Illumina HiSeq 109 0 ENST00000340930.3:c.725_739del p.Lys242_Leu247delinsMet p.K242_L247delinsM ENST00000340930 NM_001199649.1 242 aAATTCTTTGAGATCCtg/atg 0 -S100PBP UCSF GRCh37 1 33292145 33292145 + missense_variant Missense_Mutation SNP G G T NOVEL P10_Pri Untested WXS Illumina HiSeq 62 38 175 0 ENST00000373475.5:c.445G>T p.Ala149Ser p.A149S ENST00000373475 NM_022753.3 149 Gca/Tca 0 -SORBS2 UCSF GRCh37 4 186544879 186544879 + synonymous_variant Silent SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 43 23 118 0 ENST00000355634.5:c.1992C>T p.Pro664= p.P664= ENST00000355634 NM_001270771.1 664 ccC/ccT 0 -SSBP2 UCSF GRCh37 5 80733256 80733256 + missense_variant Missense_Mutation SNP A A C NOVEL P10_Pri Untested WXS Illumina HiSeq 70 38 164 0 ENST00000320672.4:c.950T>G p.Ile317Ser p.I317S ENST00000320672 NM_001256732.1 317 aTt/aGt 0 -TMEM214 UCSF GRCh37 2 27261943 27261943 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 23 7 90 0 ENST00000238788.9:c.1436G>A p.Arg479Gln p.R479Q ENST00000238788 NM_017727.4 479 cGg/cAg 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Pri somatic WXS Sanger Illumina HiSeq 3 24 83 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TRIM42 UCSF GRCh37 3 140407071 140407071 + missense_variant Missense_Mutation SNP T T G NOVEL P10_Pri Untested WXS Illumina HiSeq 38 18 156 0 ENST00000286349.3:c.1547T>G p.Ile516Ser p.I516S ENST00000286349 NM_152616.4 516 aTt/aGt 0 -ZDHHC18 UCSF GRCh37 1 27177632 27177632 + synonymous_variant Silent SNP G G A NOVEL P10_Pri Untested WXS Illumina HiSeq 18 18 122 0 ENST00000374142.4:c.846G>A p.Leu282= p.L282= ENST00000374142 NM_032283.2 282 ttG/ttA 0 -ZNF527 UCSF GRCh37 19 37880574 37880574 + synonymous_variant Silent SNP T T C NOVEL P10_Pri Untested WXS Illumina HiSeq 53 41 132 0 ENST00000436120.2:c.1623T>C p.Leu541= p.L541= ENST00000436120 NM_032453.1 541 ctT/ctC 0 -A2ML1 UCSF GRCh37 12 8975830 8975830 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 77 173 0 ENST00000299698.7:c.115G>A p.Val39Ile p.V39I ENST00000299698 NM_144670.4 39 Gtt/Att 0 -AAMP UCSF GRCh37 2 219131576 219131576 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 51 94 0 ENST00000248450.4:c.528C>T p.Asp176= p.D176= ENST00000248450 176 gaC/gaT 0 -AANAT UCSF GRCh37 17 74465899 74465899 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 8 14 0 ENST00000250615.3:c.606G>A p.Ala202= p.A202= ENST00000250615 NM_001166579.1 202 gcG/gcA 0 -ABAT UCSF GRCh37 16 8866640 8866640 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 42 140 0 ENST00000396600.2:c.820G>A p.Glu274Lys p.E274K ENST00000396600 NM_000663.4 274 Gag/Aag 0 -ABCA1 UCSF GRCh37 9 107588071 107588071 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 189 72 168 0 ENST00000374736.3:c.2435G>A p.Ser812Asn p.S812N ENST00000374736 NM_005502.3 812 aGt/aAt 0 -ABCA13 UCSF GRCh37 7 48318903 48318903 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 77 98 0 ENST00000435803.1:c.8112C>T p.Gly2704= p.G2704= ENST00000435803 NM_152701.3 2704 ggC/ggT 0 -ABCA2 UCSF GRCh37 9 139910305 139910305 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 21 43 0 ENST00000341511.6:c.3336G>A p.Glu1112= p.E1112= ENST00000341511 NM_212533.2 1112 gaG/gaA 0 -ABCA5 UCSF GRCh37 17 67260942 67260942 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 38 124 0 ENST00000392676.3:c.3249G>A p.Leu1083= p.L1083= ENST00000392676 1083 ttG/ttA 0 -ABCA9 UCSF GRCh37 17 67031836 67031836 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 83 153 0 ENST00000340001.4:c.907G>A p.Val303Ile p.V303I ENST00000340001 NM_080283.3 303 Gtc/Atc 0 -ABCB1 UCSF GRCh37 7 87168620 87168620 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 35 87 0 ENST00000265724.3:c.2361G>A p.Arg787= p.R787= ENST00000265724 NM_000927.4 787 cgG/cgA 0 -ABCB4 UCSF GRCh37 7 87076349 87076349 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 37 87 0 ENST00000265723.4:c.1005+1G>A p.X335_splice ENST00000265723 NM_000443.3 0 -ABCC11 UCSF GRCh37 16 48220964 48220964 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 75 157 0 ENST00000394747.1:c.2971G>A p.Glu991Lys p.E991K ENST00000394747 NM_033151.3 991 Gag/Aag 0 -ABCC11 UCSF GRCh37 16 48264461 48264461 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 38 81 0 ENST00000394747.1:c.123C>T p.Gly41= p.G41= ENST00000394747 NM_033151.3 41 ggC/ggT 0 -ABCC2 UCSF GRCh37 10 101567257 101567257 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 59 139 0 ENST00000370449.4:c.1647C>T p.Val549= p.V549= ENST00000370449 NM_000392.3 549 gtC/gtT 0 -ABCC3 UCSF GRCh37 17 48765012 48765012 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 70 146 0 ENST00000285238.8:c.4396G>A p.Ala1466Thr p.A1466T ENST00000285238 NM_003786.3 1466 Gct/Act 0 -ABCD1 UCSF GRCh37 X 152991314 152991314 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 58 58 108 0 ENST00000218104.3:c.593C>T p.Thr198Met p.T198M ENST00000218104 NM_000033.3 198 aCg/aTg 0 -ABHD11 UCSF GRCh37 7 73152057 73152057 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 26 23 48 0 ENST00000222800.3:c.297G>A p.Thr99= p.T99= ENST00000222800 NM_148912.2 99 acG/acA 0 -ABHD12 UCSF GRCh37 20 25275646 25275646 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 58 153 0 ENST00000376542.3:c.1178C>T p.Ser393Phe p.S393F ENST00000376542 NM_015600.4 393 tCc/tTc 0 -ABHD14B UCSF GRCh37 3 52004156 52004156 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 54 94 0 ENST00000483233.1:c.256G>A p.Glu86Lys p.E86K ENST00000483233 86 Gag/Aag 0 -ABL1 UCSF GRCh37 9 133760004 133760004 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 72 28 47 0 ENST00000318560.5:c.2327C>T p.Thr776Ile p.T776I ENST00000318560 NM_005157.4 776 aCc/aTc 0 -ABL1 UCSF GRCh37 9 133750256 133750256 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 142 66 163 0 ENST00000318560.5:c.1087G>A p.Asp363Asn p.D363N ENST00000318560 NM_005157.4 363 Gat/Aat 0 -ABT1 UCSF GRCh37 6 26598177 26598177 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 44 75 0 ENST00000274849.1:c.277G>A p.Ala93Thr p.A93T ENST00000274849 NM_013375.3 93 Gct/Act 0 -ACAD11 UCSF GRCh37 3 132322080 132322080 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 66 173 0 ENST00000264990.6:c.1614G>A p.Trp538Ter p.W538* ENST00000264990 NM_032169.4 538 tgG/tgA 0 -ACAP1 UCSF GRCh37 17 7247260 7247260 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 22 24 1 ENST00000158762.3:c.654G>A p.Lys218= p.K218= ENST00000158762 NM_014716.3 218 aaG/aaA 0 -ACCN3 UCSF GRCh37 7 150746101 150746101 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 66 89 0 ENST00000297512.8:c.129G>A p.Gly43= p.G43= ENST00000297512 43 ggG/ggA 0 -ACCN5 UCSF GRCh37 4 156757966 156757966 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 74 157 0 ENST00000537611.2:c.1110C>T p.Asn370= p.N370= ENST00000537611 NM_017419.2 370 aaC/aaT 0 -ACCSL UCSF GRCh37 11 44077841 44077841 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 1 42 80 0 ENST00000378832.1:c.1292C>T p.Thr431Ile p.T431I ENST00000378832 NM_001031854.2 431 aCc/aTc 0 -ACHE UCSF GRCh37 7 100490847 100490847 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 34 55 0 ENST00000302913.4:c.1007G>A p.Gly336Glu p.G336E ENST00000302913 NM_015831.2 336 gGa/gAa 0 -ACOT11 UCSF GRCh37 1 55073742 55073742 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 31 55 0 ENST00000371316.3:c.1629+1G>A p.X543_splice ENST00000371316 NM_015547.3 0 -ACOT11 UCSF GRCh37 1 55065014 55065014 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 25 113 0 ENST00000371316.3:c.810C>T p.Phe270= p.F270= ENST00000371316 NM_015547.3 270 ttC/ttT 0 -ACOXL UCSF GRCh37 2 111542360 111542360 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 51 104 0 ENST00000439055.1:c.127C>T p.Leu43Phe p.L43F ENST00000439055 NM_001142807.1 43 Ctc/Ttc 0 -ACPT UCSF GRCh37 19 51297182 51297182 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 74 177 0 ENST00000270593.1:c.816G>A p.Arg272= p.R272= ENST00000270593 NM_033068.2 272 cgG/cgA 0 -ACSL4 UCSF GRCh37 X 108924505 108924505 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 74 174 0 ENST00000340800.2:c.629G>A p.Ser210Asn p.S210N ENST00000340800 NM_022977.2 210 aGt/aAt 0 -ACSL6 UCSF GRCh37 5 131309079 131309079 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 50 100 0 ENST00000379264.2:c.1083C>T p.Cys361= p.C361= ENST00000379264 NM_001009185.2 361 tgC/tgT 0 -ACSM1 UCSF GRCh37 16 20702440 20702440 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 77 190 0 ENST00000307493.4:c.71C>T p.Pro24Leu p.P24L ENST00000307493 NM_052956.2 24 cCt/cTt 0 -ACSM1 UCSF GRCh37 16 20681275 20681275 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 53 103 0 ENST00000307493.4:c.786C>T p.Val262= p.V262= ENST00000307493 NM_052956.2 262 gtC/gtT 0 -ACSM5 UCSF GRCh37 16 20430602 20430602 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 56 108 0 ENST00000331849.4:c.468C>T p.Tyr156= p.Y156= ENST00000331849 NM_017888.2 156 taC/taT 0 -ACTL7B UCSF GRCh37 9 111617245 111617245 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 55 98 1 ENST00000374667.3:c.966C>T p.Cys322= p.C322= ENST00000374667 NM_006686.3 322 tgC/tgT 0 -ACTR1B UCSF GRCh37 2 98275057 98275057 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 49 121 0 ENST00000289228.5:c.490G>A p.Val164Ile p.V164I ENST00000289228 NM_005735.3 164 Gtc/Atc 0 -ACTRT2 UCSF GRCh37 1 2938970 2938970 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 49 111 0 ENST00000378404.2:c.720G>A p.Arg240= p.R240= ENST00000378404 NM_080431.4 240 agG/agA 0 -ACVR1C UCSF GRCh37 2 158443801 158443801 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 105 253 0 ENST00000243349.8:c.202G>A p.Glu68Lys p.E68K ENST00000243349 NM_001111032.1 68 Gaa/Aaa 0 -ADAD2 UCSF GRCh37 16 84230287 84230287 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 67 106 0 ENST00000268624.3:c.1807G>A p.Ala603Thr p.A603T ENST00000268624 NM_139174.3 603 Gcc/Acc 0 -ADAM11 UCSF GRCh37 17 42855391 42855391 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 65 147 0 ENST00000200557.6:c.2142C>T p.Pro714= p.P714= ENST00000200557 NM_002390.4 714 ccC/ccT 0 -ADAM19 UCSF GRCh37 5 156915317 156915317 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 77 153 0 ENST00000257527.4:c.2506C>T p.Pro836Ser p.P836S ENST00000257527 NM_033274.4 836 Cca/Tca 0 -ADAM19 UCSF GRCh37 5 156915418 156915418 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 43 104 0 ENST00000257527.4:c.2405C>T p.Ser802Phe p.S802F ENST00000257527 NM_033274.4 802 tCc/tTc 0 -ADAM23 UCSF GRCh37 2 207310049 207310049 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 61 138 0 ENST00000264377.3:c.233C>T p.Thr78Ile p.T78I ENST00000264377 NM_003812.3 78 aCt/aTt 0 -ADAMTS14 UCSF GRCh37 10 72498678 72498678 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 27 62 0 ENST00000373208.1:c.1689G>A p.Lys563= p.K563= ENST00000373208 NM_139155.2 563 aaG/aaA 0 -ADAMTS16 UCSF GRCh37 5 5319220 5319220 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 37 83 0 ENST00000274181.7:c.3644G>A p.Cys1215Tyr p.C1215Y ENST00000274181 NM_139056.2 1215 tGc/tAc 0 -ADAMTS2 UCSF GRCh37 5 178699957 178699957 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 27 86 0 ENST00000251582.7:c.643C>T p.Pro215Ser p.P215S ENST00000251582 NM_014244.4 215 Cca/Tca 0 -ADAMTS5 UCSF GRCh37 21 28327088 28327088 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 48 127 0 ENST00000284987.5:c.1207C>T p.His403Tyr p.H403Y ENST00000284987 NM_007038.3 403 Cac/Tac 0 -ADAMTS7 UCSF GRCh37 15 79051788 79051788 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 8 19 0 ENST00000388820.4:c.5036G>A p.Gly1679Asp p.G1679D ENST00000388820 NM_014272.3 1679 gGc/gAc 0 -ADAMTS8 UCSF GRCh37 11 130275496 130275496 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 52 98 0 ENST00000257359.6:c.2627C>T p.Pro876Leu p.P876L ENST00000257359 NM_007037.4 876 cCc/cTc 0 -ADCK4 UCSF GRCh37 19 41208533 41208533 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 53 92 0 ENST00000324464.3:c.865C>T p.Arg289Cys p.R289C ENST00000324464 NM_024876.3 289 Cgt/Tgt 0 -ADCK5 UCSF GRCh37 8 145616355 145616355 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 145 40 83 0 ENST00000308860.6:c.565G>A p.Asp189Asn p.D189N ENST00000308860 NM_174922.4 189 Gac/Aac 0 -ADCY4 UCSF GRCh37 14 24798336 24798336 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 37 78 0 ENST00000310677.4:c.1455G>A p.Trp485Ter p.W485* ENST00000310677 NM_001198568.1 485 tgG/tgA 0 -ADCY5 UCSF GRCh37 3 123049809 123049809 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 35 97 0 ENST00000462833.1:c.1573G>A p.Gly525Arg p.G525R ENST00000462833 NM_183357.2 525 Ggg/Agg 0 -ADCY8 UCSF GRCh37 8 131922112 131922112 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 285 73 128 0 ENST00000286355.5:c.1482G>A p.Arg494= p.R494= ENST00000286355 NM_001115.2 494 agG/agA 0 -ADIPOR2 UCSF GRCh37 12 1895171 1895171 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 83 177 0 ENST00000357103.4:c.1094G>A p.Gly365Asp p.G365D ENST00000357103 NM_024551.2 365 gGt/gAt 0 -ADNP UCSF GRCh37 20 49508225 49508225 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 134 118 181 0 ENST00000396029.3:c.3026G>A p.Ser1009Asn p.S1009N ENST00000396029 NM_015339.2 1009 aGt/aAt 0 -ADNP2 UCSF GRCh37 18 77893588 77893588 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 67 177 0 ENST00000262198.4:c.292G>A p.Asp98Asn p.D98N ENST00000262198 NM_014913.3 98 Gat/Aat 0 -ADPRHL2 UCSF GRCh37 1 36557297 36557297 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 64 156 0 ENST00000373178.4:c.387C>T p.Asn129= p.N129= ENST00000373178 NM_017825.2 129 aaC/aaT 0 -AFAP1 UCSF GRCh37 4 7870389 7870389 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 19 55 0 ENST00000420658.1:c.185C>T p.Pro62Leu p.P62L ENST00000420658 NM_001134647.1 62 cCt/cTt 0 -AFAP1 UCSF GRCh37 4 7774726 7774726 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 23 46 0 ENST00000420658.1:c.2074C>T p.Gln692Ter p.Q692* ENST00000420658 NM_001134647.1 692 Cag/Tag 0 -AFG3L2 UCSF GRCh37 18 12363780 12363780 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 57 128 0 ENST00000269143.3:c.627+1G>A p.X209_splice ENST00000269143 NM_006796.2 0 -AFM UCSF GRCh37 4 74347532 74347533 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 0 ENST00000226355.3:c.47dup p.Leu16PhefsTer3 p.L16Ffs*3 ENST00000226355 NM_001133.2 14 ttt/tTtt 0 -AGAP1 UCSF GRCh37 2 236817473 236817473 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 81 178 0 ENST00000304032.8:c.1247C>T p.Ala416Val p.A416V ENST00000304032 NM_001037131.2 416 gCc/gTc 0 -AGAP2 UCSF GRCh37 12 58126730 58126730 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 108 211 0 ENST00000547588.1:c.1582G>A p.Gly528Arg p.G528R ENST00000547588 NM_001122772.2 528 Gga/Aga 0 -AGBL4 UCSF GRCh37 1 50163095 50163095 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 71 192 0 ENST00000371839.1:c.172G>A p.Val58Met p.V58M ENST00000371839 NM_032785.3 58 Gtg/Atg 0 -AGGF1 UCSF GRCh37 5 76355552 76355552 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 55 150 0 ENST00000312916.7:c.1828C>T p.Pro610Ser p.P610S ENST00000312916 NM_018046.4 610 Cct/Tct 0 -AGPAT9 UCSF GRCh37 4 84516040 84516040 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 120 112 221 0 ENST00000395226.2:c.781G>A p.Ala261Thr p.A261T ENST00000395226 NM_001256421.1 261 Gct/Act 0 -AGPAT9 UCSF GRCh37 4 84519800 84519800 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 27 86 0 ENST00000395226.2:c.1129G>A p.Gly377Arg p.G377R ENST00000395226 NM_001256421.1 377 Gga/Aga 0 -AGRN UCSF GRCh37 1 978819 978819 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 11 36 0 ENST00000379370.2:c.1585G>A p.Ala529Thr p.A529T ENST00000379370 NM_198576.3 529 Gcg/Acg 0 -AHI1 UCSF GRCh37 6 135787148 135787148 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 152 126 222 0 ENST00000367800.4:c.553G>A p.Asp185Asn p.D185N ENST00000367800 NM_001134830.1 185 Gat/Aat 0 -AHNAK UCSF GRCh37 11 62288699 62288699 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 122 125 263 0 ENST00000378024.4:c.13190C>T p.Pro4397Leu p.P4397L ENST00000378024 NM_001620.2 4397 cCc/cTc 0 -AHNAK UCSF GRCh37 11 62288419 62288419 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 119 93 180 1 ENST00000378024.4:c.13470G>A p.Gly4490= p.G4490= ENST00000378024 NM_001620.2 4490 ggG/ggA 0 -AHNAK UCSF GRCh37 11 62297032 62297032 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 116 224 0 ENST00000378024.4:c.4857G>A p.Lys1619= p.K1619= ENST00000378024 NM_001620.2 1619 aaG/aaA 0 -AHNAK UCSF GRCh37 11 62287342 62287342 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 79 190 0 ENST00000378024.4:c.14547C>T p.Ile4849= p.I4849= ENST00000378024 NM_001620.2 4849 atC/atT 0 -AHNAK2 UCSF GRCh37 14 105423788 105423788 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 17 35 0 ENST00000333244.5:c.172G>A p.Val58Ile p.V58I ENST00000333244 NM_138420.2 58 Gtc/Atc 0 -AHRR UCSF GRCh37 5 422934 422934 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 33 73 0 ENST00000316418.5:c.544C>T p.Pro182Ser p.P182S ENST00000316418 NM_020731.4 182 Ccc/Tcc 0 -AICDA UCSF GRCh37 12 8758005 8758005 + missense_variant Missense_Mutation SNP A A T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 47 104 0 ENST00000229335.6:c.233T>A p.Val78Asp p.V78D ENST00000229335 NM_020661.2 78 gTc/gAc 0 -AIPL1 UCSF GRCh37 17 6329013 6329013 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 39 51 0 ENST00000381129.3:c.922C>T p.Leu308= p.L308= ENST00000381129 NM_014336.3 308 Ctg/Ttg 0 -AIRE UCSF GRCh37 21 45713770 45713770 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 9 23 0 ENST00000291582.5:c.1377C>T p.Phe459= p.F459= ENST00000291582 NM_000383.3 459 ttC/ttT 0 -AK8 UCSF GRCh37 9 135698602 135698602 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 160 79 156 0 ENST00000298545.3:c.879G>A p.Arg293= p.R293= ENST00000298545 NM_152572.2 293 agG/agA 0 -AKAP10 UCSF GRCh37 17 19823376 19823376 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 39 99 0 ENST00000225737.6:c.1807C>T p.Pro603Ser p.P603S ENST00000225737 NM_007202.3 603 Cct/Tct 0 -AKAP12 UCSF GRCh37 6 151673720 151673720 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 73 147 0 ENST00000402676.2:c.4194C>T p.Pro1398= p.P1398= ENST00000402676 NM_005100.3 1398 ccC/ccT 0 -AKAP12 UCSF GRCh37 6 151674666 151674666 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 90 166 0 ENST00000402676.2:c.5140C>T p.Leu1714= p.L1714= ENST00000402676 NM_005100.3 1714 Ctg/Ttg 0 -AKAP4 UCSF GRCh37 X 49957587 49957587 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 80 179 0 ENST00000358526.2:c.1777G>A p.Ala593Thr p.A593T ENST00000358526 NM_003886.2 593 Gcc/Acc 0 -AKAP8L UCSF GRCh37 19 15512078 15512078 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 74 119 0 ENST00000397410.5:c.699C>T p.Phe233= p.F233= ENST00000397410 NM_014371.2 233 ttC/ttT 0 -AKAP9 UCSF GRCh37 7 91622205 91622205 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 49 109 0 ENST00000356239.3:c.412G>A p.Glu138Lys p.E138K ENST00000356239 NM_147185.2 138 Gaa/Aaa 0 -AKNA UCSF GRCh37 9 117124707 117124707 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 16 43 0 ENST00000307564.4:c.1895C>T p.Pro632Leu p.P632L ENST00000307564 NM_030767.4 632 cCt/cTt 0 -AKR1B1 UCSF GRCh37 7 134136450 134136450 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 50 99 0 ENST00000285930.4:c.122G>A p.Arg41His p.R41H ENST00000285930 NM_001628.2 41 cGc/cAc 0 -AKR1C1 UCSF GRCh37 10 5011051 5011051 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 170 67 159 0 ENST00000380872.4:c.485C>T p.Ser162Phe p.S162F ENST00000380872 NM_001353.5 162 tCc/tTc 0 -ALAD UCSF GRCh37 9 116154398 116154398 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 16 41 0 ENST00000409155.3:c.164+1G>A p.X55_splice ENST00000409155 NM_000031.5 0 -ALDH3B2 UCSF GRCh37 11 67432886 67432886 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 131 28 159 0 ENST00000349015.3:c.576C>T p.Gly192= p.G192= ENST00000349015 NM_000695.3 192 ggC/ggT 0 -ALDH9A1 UCSF GRCh37 1 165636589 165636589 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 43 135 0 ENST00000354775.4:c.1306G>A p.Ala436Thr p.A436T ENST00000354775 NM_000696.3 436 Gcc/Acc 0 -ALG10 UCSF GRCh37 12 34179346 34179346 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 136 132 266 0 ENST00000266483.2:c.918C>T p.Leu306= p.L306= ENST00000266483 NM_032834.3 306 ctC/ctT 0 -ALKBH4 UCSF GRCh37 7 102098081 102098081 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 16 14 0 ENST00000292566.3:c.669G>A p.Arg223= p.R223= ENST00000292566 NM_017621.3 223 cgG/cgA 0 -ALMS1 UCSF GRCh37 2 73675671 73675671 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 103 194 0 ENST00000264448.6:c.2014G>A p.Glu672Lys p.E672K ENST00000264448 NM_015120.4 672 Gag/Aag 0 -ALOX15 UCSF GRCh37 17 4542415 4542415 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 74 151 0 ENST00000570836.1:c.350G>A p.Gly117Asp p.G117D ENST00000570836 117 gGc/gAc 0 -ALOX5AP UCSF GRCh37 13 31338144 31338144 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 88 196 0 ENST00000380490.3:c.387C>T p.Gly129= p.G129= ENST00000380490 NM_001629.3 129 ggC/ggT 0 -ALPK2 UCSF GRCh37 18 56202444 56202444 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 90 196 0 ENST00000361673.3:c.4975G>A p.Glu1659Lys p.E1659K ENST00000361673 NM_052947.3 1659 Gaa/Aaa 0 -ALPK2 UCSF GRCh37 18 56246635 56246635 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 92 188 0 ENST00000361673.3:c.1373C>T p.Ala458Val p.A458V ENST00000361673 NM_052947.3 458 gCt/gTt 0 -ALPK3 UCSF GRCh37 15 85383430 85383430 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 38 108 0 ENST00000258888.5:c.1526C>T p.Ala509Val p.A509V ENST00000258888 NM_020778.4 509 gCc/gTc 0 -ALPK3 UCSF GRCh37 15 85403012 85403012 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 34 42 0 ENST00000258888.5:c.4577G>A p.Gly1526Glu p.G1526E ENST00000258888 NM_020778.4 1526 gGg/gAg 0 -ALPP UCSF GRCh37 2 233245969 233245969 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 20 23 73 0 ENST00000392027.2:c.1201C>T p.Pro401Ser p.P401S ENST00000392027 NM_001632.3 401 Cct/Tct 0 -ALS2CL UCSF GRCh37 3 46724728 46724728 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 1 21 40 0 ENST00000318962.4:c.1001C>T p.Pro334Leu p.P334L ENST00000318962 NM_147129.3 334 cCc/cTc 0 -AMBN UCSF GRCh37 4 71467161 71467161 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 105 113 197 0 ENST00000322937.6:c.321C>T p.Pro107= p.P107= ENST00000322937 NM_016519.5 107 ccC/ccT 0 -AMBRA1 UCSF GRCh37 11 46563580 46563580 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 82 133 0 ENST00000314845.3:c.1717C>T p.Gln573Ter p.Q573* ENST00000314845 NM_017749.3 573 Cag/Tag 0 -AMMECR1L UCSF GRCh37 2 128628503 128628503 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 86 81 156 0 ENST00000272647.5:c.519-1G>A p.X173_splice ENST00000272647 NM_001199140.1 0 -AMOT UCSF GRCh37 X 112058905 112058905 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 23 26 0 ENST00000371959.3:c.1073C>T p.Pro358Leu p.P358L ENST00000371959 NM_001113490.1 358 cCt/cTt 0 -AMOT UCSF GRCh37 X 112065626 112065626 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 21 42 0 ENST00000371959.3:c.729C>T p.Pro243= p.P243= ENST00000371959 NM_001113490.1 243 ccC/ccT 0 -ANGEL1 UCSF GRCh37 14 77273075 77273075 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 105 179 0 ENST00000251089.2:c.1064G>A p.Gly355Asp p.G355D ENST00000251089 NM_015305.3 355 gGc/gAc 0 -ANGPTL6 UCSF GRCh37 19 10205520 10205520 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 39 48 82 0 ENST00000253109.4:c.677C>T p.Pro226Leu p.P226L ENST00000253109 NM_031917.2 226 cCc/cTc 0 -ANGPTL6 UCSF GRCh37 19 10204462 10204462 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 74 168 0 ENST00000253109.4:c.858G>A p.Trp286Ter p.W286* ENST00000253109 NM_031917.2 286 tgG/tgA 0 -ANGPTL6 UCSF GRCh37 19 10205450 10205450 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 82 76 150 1 ENST00000253109.4:c.747C>T p.Val249= p.V249= ENST00000253109 NM_031917.2 249 gtC/gtT 0 -ANK2 UCSF GRCh37 4 114257791 114257791 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 56 135 0 ENST00000357077.4:c.3650G>A p.Ser1217Asn p.S1217N ENST00000357077 NM_001148.4 1217 aGc/aAc 0 -ANK3 UCSF GRCh37 10 61834433 61834433 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 83 60 184 0 ENST00000280772.2:c.6206A>G p.Lys2069Arg p.K2069R ENST00000280772 NM_020987.3 2069 aAa/aGa 0 -ANKDD1A UCSF GRCh37 15 65214219 65214219 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 27 65 0 ENST00000380230.3:c.366+1G>A p.X122_splice ENST00000380230 NM_182703.3 0 -ANKHD1 UCSF GRCh37 5 139864786 139864786 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 47 99 0 ENST00000297183.6:c.1951G>A p.Val651Ile p.V651I ENST00000297183 NM_020690.5 651 Gtt/Att 0 -ANKHD1 UCSF GRCh37 5 139887397 139887397 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 55 140 0 ENST00000297183.6:c.3579C>T p.Pro1193= p.P1193= ENST00000297183 NM_020690.5 1193 ccC/ccT 0 -ANKLE2 UCSF GRCh37 12 133311100 133311100 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 122 94 198 0 ENST00000357997.5:c.1762G>A p.Val588Ile p.V588I ENST00000357997 NM_015114.1 588 Gtt/Att 0 -ANKLE2 UCSF GRCh37 12 133313506 133313506 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 69 106 0 ENST00000357997.5:c.1566C>T p.Ala522= p.A522= ENST00000357997 NM_015114.1 522 gcC/gcT 0 -ANKMY2 UCSF GRCh37 7 16655440 16655440 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 37 137 0 ENST00000306999.2:c.460C>T p.Pro154Ser p.P154S ENST00000306999 NM_020319.2 154 Cca/Tca 0 -ANKRD13B UCSF GRCh37 17 27936181 27936181 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 29 43 0 ENST00000394859.3:c.643G>A p.Asp215Asn p.D215N ENST00000394859 NM_152345.4 215 Gac/Aac 0 -ANKRD17 UCSF GRCh37 4 73956561 73956561 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 123 117 241 0 ENST00000358602.4:c.6784C>T p.Pro2262Ser p.P2262S ENST00000358602 NM_032217.3 2262 Cct/Tct 0 -ANKRD17 UCSF GRCh37 4 73964177 73964177 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 49 140 0 ENST00000358602.4:c.4634C>T p.Ser1545Phe p.S1545F ENST00000358602 NM_032217.3 1545 tCt/tTt 0 -ANKRD2 UCSF GRCh37 10 99338294 99338294 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 11 16 0 ENST00000307518.5:c.469G>A p.Val157Met p.V157M ENST00000307518 157 Gtg/Atg 0 -ANKRD20A1 UCSF GRCh37 9 67951934 67951934 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 37 211 0 ENST00000377477.2:c.897G>A p.Gln299= p.Q299= ENST00000377477 NM_032250.3 299 caG/caA 0 -ANKRD56 UCSF GRCh37 4 77817460 77817460 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 52 113 0 ENST00000334306.2:c.1543C>T p.Leu515Phe p.L515F ENST00000334306 NM_001029870.1 515 Ctc/Ttc 0 -ANKS6 UCSF GRCh37 9 101552469 101552469 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 100 51 114 0 ENST00000353234.4:c.779C>T p.Thr260Ile p.T260I ENST00000353234 260 aCc/aTc 0 -ANO10 UCSF GRCh37 3 43618310 43618310 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 51 130 0 ENST00000292246.3:c.1036C>T p.Leu346= p.L346= ENST00000292246 NM_018075.3 346 Cta/Tta 0 -ANO2 UCSF GRCh37 12 5939622 5939622 + synonymous_variant Silent SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 55 47 124 0 ENST00000327087.8:c.807T>C p.Asp269= p.D269= ENST00000327087 NM_001278596.1 269 gaT/gaC 0 -ANO3 UCSF GRCh37 11 26569093 26569093 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 88 200 0 ENST00000256737.3:c.1285G>A p.Val429Ile p.V429I ENST00000256737 NM_031418.2 429 Gta/Ata 0 -ANXA11 UCSF GRCh37 10 81929013 81929013 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 16 24 0 ENST00000438331.1:c.273G>A p.Gly91= p.G91= ENST00000438331 NM_145869.1 91 ggG/ggA 0 -AOX1 UCSF GRCh37 2 201515866 201515866 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 71 157 0 ENST00000374700.2:c.3017G>A p.Gly1006Glu p.G1006E ENST00000374700 NM_001159.3 1006 gGa/gAa 0 -AP2A1 UCSF GRCh37 19 50302723 50302723 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 36 75 0 ENST00000359032.5:c.1105C>T p.His369Tyr p.H369Y ENST00000359032 NM_014203.2 369 Cac/Tac 0 -AP3D1 UCSF GRCh37 19 2137026 2137026 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 8 18 0 ENST00000355272.6:c.338C>T p.Thr113Ile p.T113I ENST00000355272 NM_001261826.1 113 aCc/aTc 0 -APBB1IP UCSF GRCh37 10 26849663 26849663 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 180 84 156 0 ENST00000376236.4:c.1259G>A p.Gly420Glu p.G420E ENST00000376236 NM_019043.3 420 gGg/gAg 0 -APC UCSF GRCh37 5 112177281 112177281 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 77 82 154 0 ENST00000257430.4:c.5990G>A p.Gly1997Glu p.G1997E ENST00000257430 NM_000038.5 1997 gGa/gAa 0 -APC2 UCSF GRCh37 19 1455233 1455233 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 11 21 0 ENST00000535453.1:c.499G>A p.Asp167Asn p.D167N ENST00000535453 167 Gac/Aac 0 -APC2 UCSF GRCh37 19 1466048 1466048 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 13 13 0 ENST00000535453.1:c.2748G>A p.Lys916= p.K916= ENST00000535453 916 aaG/aaA 0 -APCDD1L UCSF GRCh37 20 57036226 57036226 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 45 71 0 ENST00000371149.3:c.1126C>T p.Pro376Ser p.P376S ENST00000371149 NM_153360.1 376 Cca/Tca 0 -API5 UCSF GRCh37 11 43350277 43350277 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 61 123 0 ENST00000531273.1:c.961C>T p.Pro321Ser p.P321S ENST00000531273 321 Cct/Tct 0 -APLP1 UCSF GRCh37 19 36365772 36365772 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 28 35 0 ENST00000221891.4:c.1344+1G>A p.X448_splice ENST00000221891 NM_001024807.1 0 -APOA1 UCSF GRCh37 11 116707873 116707873 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 40 90 0 ENST00000236850.4:c.44G>A p.Gly15Glu p.G15E ENST00000236850 NM_000039.1 15 gGg/gAg 0 -APOB UCSF GRCh37 2 21227277 21227277 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 60 145 0 ENST00000233242.1:c.11951C>T p.Thr3984Ile p.T3984I ENST00000233242 NM_000384.2 3984 aCc/aTc 0 -APOB UCSF GRCh37 2 21232067 21232067 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 105 175 0 ENST00000233242.1:c.7673C>T p.Ala2558Val p.A2558V ENST00000233242 NM_000384.2 2558 gCt/gTt 0 -APOB UCSF GRCh37 2 21232078 21232078 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 69 146 0 ENST00000233242.1:c.7662G>A p.Trp2554Ter p.W2554* ENST00000233242 NM_000384.2 2554 tgG/tgA 0 -APP UCSF GRCh37 21 27284207 27284207 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 53 121 0 ENST00000346798.3:c.1755G>A p.Arg585= p.R585= ENST00000346798 NM_000484.3 585 agG/agA 0 -AQP1 UCSF GRCh37 7 30963178 30963178 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 18 20 49 0 ENST00000311813.4:c.744C>T p.Gly248= p.G248= ENST00000311813 NM_198098.2 248 ggC/ggT 0 -AQP5 UCSF GRCh37 12 50358930 50358930 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 31 50 0 ENST00000293599.6:c.768G>A p.Arg256= p.R256= ENST00000293599 NM_001651.3 256 cgG/cgA 0 -AR UCSF GRCh37 X 66765407 66765407 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 6 14 0 ENST00000374690.3:c.419C>T p.Ala140Val p.A140V ENST00000374690 NM_000044.3 140 gCc/gTc 0 -AR UCSF GRCh37 X 66766136 66766136 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 13 30 0 ENST00000374690.3:c.1148C>T p.Pro383Leu p.P383L ENST00000374690 NM_000044.3 383 cCc/cTc 0 -ARAP2 UCSF GRCh37 4 36115845 36115845 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 124 112 201 0 ENST00000303965.4:c.4103C>T p.Pro1368Leu p.P1368L ENST00000303965 NM_015230.3 1368 cCt/cTt 0 -ARAP2 UCSF GRCh37 4 36212084 36212084 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 68 138 1 ENST00000303965.4:c.1415C>T p.Pro472Leu p.P472L ENST00000303965 NM_015230.3 472 cCc/cTc 0 -ARAP2 UCSF GRCh37 4 36109269 36109269 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 59 179 0 ENST00000303965.4:c.4203G>A p.Arg1401= p.R1401= ENST00000303965 NM_015230.3 1401 cgG/cgA 0 -ARAP3 UCSF GRCh37 5 141033734 141033734 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 40 104 0 ENST00000239440.4:c.4418G>A p.Ser1473Asn p.S1473N ENST00000239440 NM_022481.5 1473 aGc/aAc 0 -ARC UCSF GRCh37 8 143695255 143695255 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 7 25 0 ENST00000356613.2:c.378G>A p.Trp126Ter p.W126* ENST00000356613 NM_015193.4 126 tgG/tgA 0 -ARCN1 UCSF GRCh37 11 118454053 118454053 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 55 125 0 ENST00000264028.4:c.427G>A p.Val143Met p.V143M ENST00000264028 NM_001655.4 143 Gtg/Atg 0 -ARFGEF2 UCSF GRCh37 20 47582530 47582530 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 63 139 0 ENST00000371917.4:c.1029C>T p.Asp343= p.D343= ENST00000371917 NM_006420.2 343 gaC/gaT 0 -ARGLU1 UCSF GRCh37 13 107196384 107196384 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 56 72 0 ENST00000400198.3:c.782C>T p.Ser261Phe p.S261F ENST00000400198 NM_018011.3 261 tCc/tTc 0 -ARHGAP15 UCSF GRCh37 2 144193197 144193197 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 20 21 59 0 ENST00000295095.6:c.502C>T p.Leu168Phe p.L168F ENST00000295095 NM_018460.3 168 Ctt/Ttt 0 -ARHGAP22 UCSF GRCh37 10 49687707 49687707 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 25 34 0 ENST00000417912.2:c.423C>T p.Arg141= p.R141= ENST00000417912 141 cgC/cgT 0 -ARHGAP23 UCSF GRCh37 17 36623249 36623249 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 13 15 17 0 ENST00000431231.2:c.1325C>T p.Pro442Leu p.P442L ENST00000431231 NM_001199417.1 442 cCc/cTc 0 -ARHGAP31 UCSF GRCh37 3 119120774 119120774 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 47 99 0 ENST00000264245.4:c.1175C>T p.Thr392Ile p.T392I ENST00000264245 NM_020754.2 392 aCc/aTc 0 -ARHGAP33 UCSF GRCh37 19 36278595 36278595 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 40 68 0 ENST00000314737.5:c.2645C>T p.Pro882Leu p.P882L ENST00000314737 NM_052948.3 882 cCc/cTc 0 -ARHGAP9 UCSF GRCh37 12 57868745 57868745 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 30 80 0 ENST00000393791.3:c.1564G>A p.Gly522Ser p.G522S ENST00000393791 NM_032496.2 522 Ggc/Agc 0 -ARHGEF1 UCSF GRCh37 19 42392174 42392174 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 30 68 0 ENST00000337665.4:c.66G>A p.Gly22= p.G22= ENST00000337665 NM_199002.1 22 ggG/ggA 0 -ARHGEF10 UCSF GRCh37 8 1893800 1893800 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 46 118 0 ENST00000349830.3:c.3376C>T p.Pro1126Ser p.P1126S ENST00000349830 NM_014629.2 1126 Cct/Tct 0 -ARHGEF12 UCSF GRCh37 11 120345319 120345319 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 64 149 0 ENST00000397843.2:c.3084G>A p.Trp1028Ter p.W1028* ENST00000397843 NM_015313.2 1028 tgG/tgA 0 -ARHGEF16 UCSF GRCh37 1 3396387 3396387 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 28 68 0 ENST00000378378.4:c.1900G>A p.Val634Met p.V634M ENST00000378378 NM_014448.3 634 Gtg/Atg 0 -ARHGEF17 UCSF GRCh37 11 73073499 73073499 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 12 29 0 ENST00000263674.3:c.4716G>A p.Arg1572= p.R1572= ENST00000263674 NM_014786.3 1572 agG/agA 0 -ARHGEF18 UCSF GRCh37 19 7518385 7518385 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 71 172 0 ENST00000359920.6:c.1324G>A p.Ala442Thr p.A442T ENST00000359920 NM_001130955.1 442 Gcc/Acc 0 -ARHGEF37 UCSF GRCh37 5 149001611 149001611 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 16 42 0 ENST00000333677.6:c.1321G>A p.Gly441Arg p.G441R ENST00000333677 NM_001001669.2 441 Gga/Aga 0 -ARHGEF40 UCSF GRCh37 14 21542423 21542423 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 44 97 0 ENST00000298694.4:c.534G>A p.Trp178Ter p.W178* ENST00000298694 NM_001278529.1 178 tgG/tgA 0 -ARHGEF9 UCSF GRCh37 X 62858032 62858032 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 19 17 49 0 ENST00000253401.6:c.1427A>G p.Asn476Ser p.N476S ENST00000253401 NM_015185.2 476 aAc/aGc 0 -ARID1A UCSF GRCh37 1 27087438 27087438 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 90 85 168 0 ENST00000324856.7:c.2012G>A p.Gly671Glu p.G671E ENST00000324856 NM_006015.4 671 gGa/gAa 0 -ARID1A UCSF GRCh37 1 27106776 27106776 + synonymous_variant Silent SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 108 97 196 0 ENST00000324856.7:c.6387C>T p.Asp2129= p.D2129= ENST00000324856 NM_006015.4 2129 gaC/gaT 0 -ARID1B UCSF GRCh37 6 157405897 157405897 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 64 163 0 ENST00000346085.5:c.2139C>T p.Ser713= p.S713= ENST00000346085 NM_020732.3 713 agC/agT 0 -ARID2 UCSF GRCh37 12 46125022 46125022 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 59 140 0 ENST00000334344.6:c.209G>A p.Gly70Glu p.G70E ENST00000334344 NM_152641.2 70 gGa/gAa 0 -ARID3C UCSF GRCh37 9 34621480 34621480 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 20 40 0 ENST00000378909.2:c.1214G>A p.Gly405Glu p.G405E ENST00000378909 NM_001017363.1 405 gGg/gAg 0 -ARID4B UCSF GRCh37 1 235383229 235383229 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 49 140 0 ENST00000264183.3:c.1462G>A p.Glu488Lys p.E488K ENST00000264183 NM_016374.5 488 Gaa/Aaa 0 -ARID5B UCSF GRCh37 10 63852245 63852245 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 74 134 0 ENST00000279873.7:c.3023C>T p.Ala1008Val p.A1008V ENST00000279873 NM_032199.2 1008 gCg/gTg 0 -ARL4A UCSF GRCh37 7 12728445 12728445 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 152 119 240 0 ENST00000396663.1:c.566G>A p.Arg189Lys p.R189K ENST00000396663 NM_005738.4 189 aGa/aAa 0 -ARL8B UCSF GRCh37 3 5216037 5216037 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 70 134 0 ENST00000256496.3:c.449C>T p.Ser150Phe p.S150F ENST00000256496 NM_018184.2 150 tCt/tTt 0 -ARMC2 UCSF GRCh37 6 109225435 109225435 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 128 105 220 0 ENST00000392644.4:c.850G>A p.Glu284Lys p.E284K ENST00000392644 NM_032131.4 284 Gaa/Aaa 0 -ARMC4 UCSF GRCh37 10 28272880 28272880 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 130 56 143 0 ENST00000305242.5:c.711C>T p.Ala237= p.A237= ENST00000305242 NM_018076.2 237 gcC/gcT 0 -ARMC5 UCSF GRCh37 16 31473836 31473836 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 37 52 0 ENST00000268314.4:c.968G>A p.Gly323Asp p.G323D ENST00000268314 NM_001105247.1 323 gGc/gAc 0 -ARMCX5 UCSF GRCh37 X 101857164 101857164 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 65 160 0 ENST00000604957.1:c.95G>A p.Gly32Asp p.G32D ENST00000604957 NM_001168478.1 32 gGt/gAt 0 -ARNT2 UCSF GRCh37 15 80869262 80869262 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 77 182 0 ENST00000303329.4:c.1569C>T p.Ser523= p.S523= ENST00000303329 NM_014862.3 523 tcC/tcT 0 -ARPM1 UCSF GRCh37 3 169485867 169485867 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 54 129 0 ENST00000330368.2:c.472G>A p.Val158Ile p.V158I ENST00000330368 NM_032487.4 158 Gtt/Att 0 -ARRDC1 UCSF GRCh37 9 140508117 140508117 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 129 55 117 0 ENST00000371421.4:c.331G>A p.Val111Met p.V111M ENST00000371421 NM_152285.2 111 Gtg/Atg 0 -ARSA UCSF GRCh37 22 51065061 51065061 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 39 76 0 ENST00000216124.5:c.812G>A p.Gly271Glu p.G271E ENST00000216124 NM_000487.5 271 gGg/gAg 0 -ARSF UCSF GRCh37 X 3030361 3030361 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 84 218 0 ENST00000381127.1:c.1537C>T p.Pro513Ser p.P513S ENST00000381127 NM_001201539.1 513 Ccc/Tcc 0 -ARSJ UCSF GRCh37 4 114824812 114824812 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 72 159 1 ENST00000315366.7:c.418C>T p.Leu140Phe p.L140F ENST00000315366 NM_024590.3 140 Ctt/Ttt 0 -ART3 UCSF GRCh37 4 77003181 77003181 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 75 180 0 ENST00000355810.4:c.274G>A p.Asp92Asn p.D92N ENST00000355810 NM_001130016.2 92 Gat/Aat 0 -ART4 UCSF GRCh37 12 14982321 14982321 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 44 120 1 ENST00000228936.4:c.929C>T p.Ser310Phe p.S310F ENST00000228936 NM_021071.2 310 tCc/tTc 0 -ASB1 UCSF GRCh37 2 239344428 239344428 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 38 59 0 ENST00000264607.4:c.268C>T p.His90Tyr p.H90Y ENST00000264607 NM_001040445.1 90 Cat/Tat 0 -ASF1B UCSF GRCh37 19 14231375 14231375 + missense_variant Missense_Mutation SNP A A T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 18 31 0 ENST00000263382.3:c.505T>A p.Ser169Thr p.S169T ENST00000263382 NM_018154.2 169 Tcc/Acc 0 -ASH1L UCSF GRCh37 1 155451034 155451034 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 61 167 0 ENST00000392403.3:c.1627G>A p.Ala543Thr p.A543T ENST00000392403 NM_018489.2 543 Gct/Act 0 -ASH1L UCSF GRCh37 1 155449132 155449132 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 75 159 0 ENST00000392403.3:c.3529C>T p.Leu1177Phe p.L1177F ENST00000392403 NM_018489.2 1177 Ctc/Ttc 0 -ASL UCSF GRCh37 7 65551635 65551635 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 16 42 0 ENST00000304874.9:c.510C>T p.Ser170= p.S170= ENST00000304874 NM_000048.3 170 agC/agT 0 -ASPSCR1 UCSF GRCh37 17 79968702 79968702 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 25 55 1 ENST00000306729.7:c.1195G>A p.Asp399Asn p.D399N ENST00000306729 NM_001251888.1 399 Gac/Aac 0 -ASXL1 UCSF GRCh37 20 31022675 31022675 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 55 83 0 ENST00000375687.4:c.2160C>T p.Asp720= p.D720= ENST00000375687 NM_015338.5 720 gaC/gaT 0 -ASXL1 UCSF GRCh37 20 31023287 31023287 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 73 139 0 ENST00000375687.4:c.2772C>T p.Pro924= p.P924= ENST00000375687 NM_015338.5 924 ccC/ccT 0 -ATAD2 UCSF GRCh37 8 124384893 124384893 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P10_Rec Untested WXS Illumina HiSeq 46 0 ENST00000287394.5:c.354delA p.Glu119LysfsTer8 p.E119Kfs*8 ENST00000287394 NM_014109.3 118 aaA/aa 0 -ATAD2B UCSF GRCh37 2 24046250 24046250 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 138 95 188 0 ENST00000238789.5:c.2009C>T p.Ser670Phe p.S670F ENST00000238789 NM_001242338.1 670 tCt/tTt 0 -ATAD3C UCSF GRCh37 1 1394579 1394579 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 58 102 0 ENST00000378785.2:c.780C>T p.Ala260= p.A260= ENST00000378785 NM_001039211.2 260 gcC/gcT 0 -ATAD5 UCSF GRCh37 17 29196607 29196607 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 74 169 0 ENST00000321990.4:c.3550G>A p.Gly1184Ser p.G1184S ENST00000321990 NM_024857.3 1184 Ggt/Agt 0 -ATG13 UCSF GRCh37 11 46671819 46671819 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 112 202 0 ENST00000528494.1:c.410C>T p.Ala137Val p.A137V ENST00000528494 NM_001205119.1 137 gCc/gTc 0 -ATG2A UCSF GRCh37 11 64674276 64674276 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 29 44 0 ENST00000377264.3:c.2844G>A p.Gly948= p.G948= ENST00000377264 NM_015104.2 948 ggG/ggA 0 -ATG2B UCSF GRCh37 14 96800741 96800741 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 34 89 0 ENST00000359933.4:c.1021+1G>A p.X341_splice ENST00000359933 NM_018036.5 0 -ATG4A UCSF GRCh37 X 107380354 107380354 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 62 213 0 ENST00000372232.3:c.501G>A p.Leu167= p.L167= ENST00000372232 NM_052936.3 167 ttG/ttA 0 -ATG4C UCSF GRCh37 1 63307111 63307111 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 40 122 0 ENST00000317868.4:c.1102C>T p.Pro368Ser p.P368S ENST00000317868 NM_032852.3 368 Cct/Tct 0 -ATG7 UCSF GRCh37 3 11348535 11348535 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 101 90 163 0 ENST00000354449.3:c.333+1G>A p.X111_splice ENST00000354449 NM_006395.2 0 -ATL2 UCSF GRCh37 2 38546043 38546043 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 87 155 0 ENST00000378954.4:c.482G>A p.Arg161Lys p.R161K ENST00000378954 NM_001135673.1 161 aGa/aAa 0 -ATL2 UCSF GRCh37 2 38525577 38525577 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 139 126 226 0 ENST00000378954.4:c.1341G>A p.Gln447= p.Q447= ENST00000378954 NM_001135673.1 447 caG/caA 0 -ATP11B UCSF GRCh37 3 182575747 182575747 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 92 173 0 ENST00000323116.5:c.933G>A p.Trp311Ter p.W311* ENST00000323116 NM_014616.2 311 tgG/tgA 0 -ATP13A3 UCSF GRCh37 3 194168634 194168634 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 112 178 0 ENST00000439040.1:c.1255G>A p.Ala419Thr p.A419T ENST00000439040 419 Gca/Aca 0 -ATP1A4 UCSF GRCh37 1 160128843 160128843 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 73 135 0 ENST00000368081.4:c.577G>A p.Val193Met p.V193M ENST00000368081 NM_144699.3 193 Gtg/Atg 0 -ATP2A2 UCSF GRCh37 12 110784078 110784078 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 63 179 0 ENST00000539276.2:c.2932C>T p.Leu978Phe p.L978F ENST00000539276 978 Ctc/Ttc 0 -ATP2A2 UCSF GRCh37 12 110778552 110778552 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 72 110 0 ENST00000539276.2:c.1850G>A p.Gly617Asp p.G617D ENST00000539276 617 gGc/gAc 0 -ATP2B1 UCSF GRCh37 12 89997948 89997948 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 60 99 0 ENST00000428670.3:c.2618G>A p.Gly873Asp p.G873D ENST00000428670 873 gGc/gAc 0 -ATP2B3 UCSF GRCh37 X 152807193 152807193 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 47 90 0 ENST00000263519.4:c.473C>T p.Ala158Val p.A158V ENST00000263519 NM_001001344.2 158 gCt/gTt 0 -ATP2B4 UCSF GRCh37 1 203690419 203690419 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 60 128 0 ENST00000357681.5:c.2693C>T p.Ser898Phe p.S898F ENST00000357681 NM_001684.4 898 tCt/tTt 0 -ATP2C2 UCSF GRCh37 16 84482283 84482283 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 62 102 0 ENST00000262429.4:c.1648C>T p.Leu550Phe p.L550F ENST00000262429 NM_014861.2 550 Ctc/Ttc 0 -ATP2C2 UCSF GRCh37 16 84442047 84442047 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 31 80 0 ENST00000262429.4:c.364G>A p.Ala122Thr p.A122T ENST00000262429 NM_014861.2 122 Gcc/Acc 0 -ATP6AP2 UCSF GRCh37 X 40456585 40456585 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 58 144 0 ENST00000378438.4:c.385C>T p.Pro129Ser p.P129S ENST00000378438 NM_005765.2 129 Ccc/Tcc 0 -ATP6V0D1 UCSF GRCh37 16 67472557 67472557 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 88 178 0 ENST00000290949.3:c.930C>T p.Phe310= p.F310= ENST00000290949 NM_004691.4 310 ttC/ttT 0 -ATP6V0D2 UCSF GRCh37 8 87126101 87126101 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 156 54 110 0 ENST00000285393.3:c.294C>T p.Thr98= p.T98= ENST00000285393 NM_152565.1 98 acC/acT 0 -ATP6V1A UCSF GRCh37 3 113503577 113503577 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 63 117 0 ENST00000273398.3:c.461G>A p.Gly154Glu p.G154E ENST00000273398 NM_001690.3 154 gGa/gAa 0 -ATP6V1B1 UCSF GRCh37 2 71192158 71192158 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 37 76 0 ENST00000234396.4:c.1449G>A p.Lys483= p.K483= ENST00000234396 NM_001692.3 483 aaG/aaA 0 -ATP6V1G1 UCSF GRCh37 9 117350193 117350193 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 8 11 0 ENST00000374050.3:c.75C>T p.Ala25= p.A25= ENST00000374050 NM_004888.3 25 gcC/gcT 0 -ATP6V1G2 UCSF GRCh37 6 31513939 31513939 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 54 119 0 ENST00000303892.5:c.130G>A p.Val44Met p.V44M ENST00000303892 NM_138282.2 44 Gtg/Atg 0 -ATP7B UCSF GRCh37 13 52542627 52542627 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 78 136 0 ENST00000242839.4:c.1660G>A p.Ala554Thr p.A554T ENST00000242839 NM_000053.3 554 Gca/Aca 0 -ATP7B UCSF GRCh37 13 52520511 52520511 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 4 16 40 0 ENST00000242839.4:c.2969C>T p.Ala990Val p.A990V ENST00000242839 NM_000053.3 990 gCc/gTc 0 -ATP7B UCSF GRCh37 13 52548653 52548653 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 105 211 0 ENST00000242839.4:c.703C>T p.Pro235Ser p.P235S ENST00000242839 NM_000053.3 235 Cct/Tct 0 -ATP8A1 UCSF GRCh37 4 42487635 42487635 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 70 195 0 ENST00000381668.5:c.2202C>T p.Leu734= p.L734= ENST00000381668 NM_006095.2 734 ctC/ctT 0 -ATP8B4 UCSF GRCh37 15 50189676 50189676 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 128 220 0 ENST00000284509.6:c.2510G>A p.Gly837Glu p.G837E ENST00000284509 NM_024837.3 837 gGa/gAa 0 -ATP8B4 UCSF GRCh37 15 50273457 50273457 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 40 112 0 ENST00000284509.6:c.783G>A p.Lys261= p.K261= ENST00000284509 NM_024837.3 261 aaG/aaA 0 -ATP9A UCSF GRCh37 20 50245563 50245563 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 85 190 0 ENST00000338821.5:c.1717G>A p.Val573Ile p.V573I ENST00000338821 NM_006045.1 573 Gtc/Atc 0 -ATP9B UCSF GRCh37 18 77097371 77097371 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 34 92 0 ENST00000426216.2:c.2205G>A p.Leu735= p.L735= ENST00000426216 NM_198531.3 735 ctG/ctA 0 -ATPBD4 UCSF GRCh37 15 35814403 35814403 + intron_variant Intron SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 49 101 0 ENST00000256538.4:c.312+16072G>A *104* ENST00000256538 NM_080650.3 0 -ATR UCSF GRCh37 3 142279142 142279142 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 115 71 175 0 ENST00000350721.4:c.1504C>T p.Leu502= p.L502= ENST00000350721 NM_001184.3 502 Ctg/Ttg 0 -ATRN UCSF GRCh37 20 3553565 3553565 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 59 161 0 ENST00000262919.5:c.2059G>A p.Glu687Lys p.E687K ENST00000262919 NM_139321.2 687 Gaa/Aaa 0 -ATRX UCSF GRCh37 X 76814225 76814225 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 75 68 168 0 ENST00000373344.5:c.6419A>G p.Asn2140Ser p.N2140S ENST00000373344 NM_000489.3 2140 aAt/aGt 0 -ATXN3L UCSF GRCh37 X 13337642 13337642 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 107 228 0 ENST00000380622.2:c.412G>A p.Ala138Thr p.A138T ENST00000380622 NM_001135995.1 138 Gcg/Acg 0 -AUTS2 UCSF GRCh37 7 70254999 70254999 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 27 35 0 ENST00000342771.4:c.2797G>A p.Ala933Thr p.A933T ENST00000342771 NM_015570.2 933 Gcc/Acc 0 -AVL9 UCSF GRCh37 7 32598829 32598829 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 55 126 0 ENST00000318709.4:c.968C>T p.Ser323Phe p.S323F ENST00000318709 NM_015060.1 323 tCt/tTt 0 -AVL9 UCSF GRCh37 7 32598950 32598950 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 56 118 0 ENST00000318709.4:c.1089C>T p.Val363= p.V363= ENST00000318709 NM_015060.1 363 gtC/gtT 0 -AVPR1B UCSF GRCh37 1 206230814 206230814 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 20 47 0 ENST00000367126.4:c.947C>T p.Thr316Ile p.T316I ENST00000367126 NM_000707.3 316 aCc/aTc 0 -AXIN1 UCSF GRCh37 16 347811 347811 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 10 25 0 ENST00000262320.3:c.1695C>T p.Gly565= p.G565= ENST00000262320 NM_003502.3 565 ggC/ggT 0 -AXL UCSF GRCh37 19 41759510 41759510 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 20 52 0 ENST00000301178.4:c.1933C>T p.Pro645Ser p.P645S ENST00000301178 NM_021913.4 645 Ccc/Tcc 0 -B4GALNT4 UCSF GRCh37 11 375904 375904 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 1 17 27 0 ENST00000329962.6:c.1043C>T p.Pro348Leu p.P348L ENST00000329962 NM_178537.4 348 cCc/cTc 0 -B4GALT2 UCSF GRCh37 1 44447467 44447467 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 43 85 0 ENST00000309519.7:c.507C>T p.Thr169= p.T169= ENST00000309519 169 acC/acT 0 -BAG2 UCSF GRCh37 6 57048760 57048760 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 80 183 0 ENST00000370693.5:c.408G>A p.Met136Ile p.M136I ENST00000370693 NM_004282.3 136 atG/atA 0 -BAG2 UCSF GRCh37 6 57048888 57048888 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 63 152 0 ENST00000370693.5:c.536G>A p.Arg179Lys p.R179K ENST00000370693 NM_004282.3 179 aGa/aAa 0 -BAHD1 UCSF GRCh37 15 40758176 40758176 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 80 131 0 ENST00000416165.1:c.2190C>T p.Leu730= p.L730= ENST00000416165 NM_014952.3 730 ctC/ctT 0 -BAI1 UCSF GRCh37 8 143545905 143545905 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 8 17 0 ENST00000517894.1:c.346G>A p.Gly116Ser p.G116S ENST00000517894 116 Ggc/Agc 0 -BAIAP2L1 UCSF GRCh37 7 97935766 97935766 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 52 121 0 ENST00000005260.8:c.1226C>T p.Thr409Ile p.T409I ENST00000005260 NM_018842.4 409 aCc/aTc 0 -BAZ2B UCSF GRCh37 2 160287578 160287578 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 80 157 0 ENST00000392783.2:c.1990G>A p.Glu664Lys p.E664K ENST00000392783 NM_013450.2 664 Gaa/Aaa 0 -BBS1 UCSF GRCh37 11 66283022 66283022 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 54 134 0 ENST00000318312.7:c.444C>T p.Asp148= p.D148= ENST00000318312 NM_024649.4 148 gaC/gaT 0 -BBS12 UCSF GRCh37 4 123663752 123663752 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 82 214 0 ENST00000542236.1:c.705G>A p.Arg235= p.R235= ENST00000542236 NM_001178007.1 235 agG/agA 0 -BBS4 UCSF GRCh37 15 73009191 73009191 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 16 46 0 ENST00000268057.4:c.405G>A p.Trp135Ter p.W135* ENST00000268057 NM_033028.4 135 tgG/tgA 0 -BCAS1 UCSF GRCh37 20 52645014 52645014 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 116 104 205 0 ENST00000395961.3:c.640G>A p.Glu214Lys p.E214K ENST00000395961 NM_003657.2 214 Gaa/Aaa 0 -BCL11A UCSF GRCh37 2 60679739 60679739 + downstream_gene_variant 3'Flank SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 68 126 0 ENST00000335712 NM_022893.3 0 -BCL11A UCSF GRCh37 2 60773220 60773220 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 104 84 188 0 ENST00000335712.6:c.271G>A p.Glu91Lys p.E91K ENST00000335712 NM_022893.3 91 Gag/Aag 0 -BCL11B UCSF GRCh37 14 99697883 99697883 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 15 11 0 ENST00000357195.3:c.439C>T p.Pro147Ser p.P147S ENST00000357195 NM_138576.2 147 Cct/Tct 0 -BCL2L11 UCSF GRCh37 2 111907635 111907635 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 31 72 0 ENST00000393256.3:c.409G>A p.Ala137Thr p.A137T ENST00000393256 NM_006538.4 137 Gct/Act 0 -BCL3 UCSF GRCh37 19 45260369 45260369 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 12 15 0 ENST00000164227.5:c.615C>T p.Gly205= p.G205= ENST00000164227 NM_005178.4 205 ggC/ggT 0 -BCOR UCSF GRCh37 X 39932533 39932533 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 53 81 0 ENST00000378444.4:c.2066G>A p.Gly689Asp p.G689D ENST00000378444 NM_001123385.1 689 gGc/gAc 0 -BCORL1 UCSF GRCh37 X 129171444 129171444 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 57 128 0 ENST00000540052.1:c.4408G>A p.Asp1470Asn p.D1470N ENST00000540052 NM_021946.4 1470 Gac/Aac 0 -BEAN1 UCSF GRCh37 16 66514512 66514512 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 19 24 0 ENST00000536005.2:c.464G>A p.Gly155Glu p.G155E ENST00000536005 NM_001178020.2 155 gGg/gAg 0 -BEST1 UCSF GRCh37 11 61724400 61724400 + missense_variant Missense_Mutation SNP C C T snp132_rs62639357 P10_Rec Untested WXS Illumina HiSeq 118 86 163 0 ENST00000449131.2:c.386C>T p.Ala129Val p.A129V ENST00000449131 NM_001139443.1 129 gCc/gTc 0 -BEST1 UCSF GRCh37 11 61730351 61730351 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 55 140 0 ENST00000449131.2:c.1545G>A p.Trp515Ter p.W515* ENST00000449131 NM_001139443.1 515 tgG/tgA 0 -BIN2 UCSF GRCh37 12 51696470 51696470 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 75 167 0 ENST00000267012.4:c.312G>A p.Trp104Ter p.W104* ENST00000267012 NM_016293.2 104 tgG/tgA 0 -BIN3 UCSF GRCh37 8 22479058 22479058 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 35 105 0 ENST00000276416.6:c.639C>T p.His213= p.H213= ENST00000276416 NM_018688.4 213 caC/caT 0 -BIRC6 UCSF GRCh37 2 32824908 32824908 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 85 209 0 ENST00000421745.2:c.13933C>T p.Leu4645= p.L4645= ENST00000421745 NM_016252.3 4645 Cta/Tta 0 -BIRC7 UCSF GRCh37 20 61870934 61870934 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 25 24 0 ENST00000217169.3:c.874C>T p.Arg292Cys p.R292C ENST00000217169 NM_139317.2 292 Cgc/Tgc 0 -BIRC7 UCSF GRCh37 20 61869332 61869332 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 17 38 0 ENST00000217169.3:c.427G>A p.Glu143Lys p.E143K ENST00000217169 NM_139317.2 143 Gag/Aag 0 -BIVM UCSF GRCh37 13 103474475 103474475 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 45 136 0 ENST00000257336.1:c.867G>A p.Lys289= p.K289= ENST00000257336 NM_017693.3 289 aaG/aaA 0 -BLNK UCSF GRCh37 10 98002540 98002540 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 46 125 0 ENST00000224337.5:c.114G>A p.Lys38= p.K38= ENST00000224337 NM_013314.3 38 aaG/aaA 0 -BLVRA UCSF GRCh37 7 43840116 43840116 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 38 80 0 ENST00000402924.1:c.405C>T p.Phe135= p.F135= ENST00000402924 NM_001253823.1 135 ttC/ttT 0 -BMP1 UCSF GRCh37 8 22058659 22058659 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 45 99 0 ENST00000306385.5:c.2108-657G>A *703* ENST00000306385 NM_006129.4 0 -BMP15 UCSF GRCh37 X 50659331 50659331 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 69 165 0 ENST00000252677.3:c.903C>T p.Arg301= p.R301= ENST00000252677 NM_005448.2 301 cgC/cgT 0 -BMPER UCSF GRCh37 7 33976972 33976972 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 41 105 0 ENST00000297161.2:c.291G>A p.Gln97= p.Q97= ENST00000297161 NM_133468.4 97 caG/caA 0 -BNC1 UCSF GRCh37 15 83932486 83932486 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 56 143 0 ENST00000345382.2:c.1517G>A p.Gly506Glu p.G506E ENST00000345382 NM_001717.3 506 gGg/gAg 0 -BNC1 UCSF GRCh37 15 83932013 83932013 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 79 151 0 ENST00000345382.2:c.1990C>T p.Pro664Ser p.P664S ENST00000345382 NM_001717.3 664 Ccc/Tcc 0 -BNIP2 UCSF GRCh37 15 59970244 59970244 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 105 221 0 ENST00000267859.3:c.701G>A p.Gly234Asp p.G234D ENST00000267859 234 gGc/gAc 0 -BOD1L UCSF GRCh37 4 13604919 13604919 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 134 126 202 0 ENST00000040738.5:c.3605C>T p.Thr1202Ile p.T1202I ENST00000040738 NM_148894.2 1202 aCc/aTc 0 -BOP1 UCSF GRCh37 8 145512976 145512976 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 105 24 61 0 ENST00000307404.5:c.109C>T p.Leu37Phe p.L37F ENST00000307404 NM_015201.3 37 Ctc/Ttc 0 -BPGM UCSF GRCh37 7 134346447 134346447 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 68 126 0 ENST00000393132.2:c.188C>T p.Ser63Phe p.S63F ENST00000393132 NM_199186.2 63 tCc/tTc 0 -BRAT1 UCSF GRCh37 7 2587021 2587021 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 40 66 0 ENST00000340611.4:c.219C>T p.Leu73= p.L73= ENST00000340611 NM_152743.3 73 ctC/ctT 0 -BRCA1 UCSF GRCh37 17 41201137 41201137 + splice_donor_variant Splice_Site SNP C C T snp132_rs80358028 P10_Rec somatic WXS Sanger Illumina HiSeq 50 39 83 0 ENST00000357654.3:c.5406+1G>A p.X1802_splice ENST00000357654 NM_007294.3 0 -BRD2 UCSF GRCh37 6 32945348 32945348 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 87 187 0 ENST00000395289.2:c.1329+1G>A p.X443_splice ENST00000395289 0 -BRD2 UCSF GRCh37 6 32947668 32947668 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 39 126 0 ENST00000395289.2:c.2010G>A p.Glu670= p.E670= ENST00000395289 670 gaG/gaA 0 -BRD3 UCSF GRCh37 9 136917491 136917491 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 119 50 117 0 ENST00000303407.7:c.288G>A p.Trp96Ter p.W96* ENST00000303407 NM_007371.3 96 tgG/tgA 0 -BRD8 UCSF GRCh37 5 137513329 137513329 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 83 133 0 ENST00000254900.5:c.47C>T p.Thr16Ile p.T16I ENST00000254900 NM_139199.1 16 aCa/aTa 0 -BRF2 UCSF GRCh37 8 37707147 37707147 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 33 72 0 ENST00000220659.6:c.154+1G>A p.X52_splice ENST00000220659 NM_018310.3 0 -BRPF1 UCSF GRCh37 3 9782593 9782593 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 38 103 0 ENST00000383829.2:c.1690C>T p.Leu564= p.L564= ENST00000383829 NM_001003694.1 564 Ctg/Ttg 0 -BRPF3 UCSF GRCh37 6 36169066 36169066 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 32 90 0 ENST00000357641.6:c.967C>T p.Leu323= p.L323= ENST00000357641 NM_015695.2 323 Cta/Tta 0 -BRWD1 UCSF GRCh37 21 40670433 40670433 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 76 186 0 ENST00000333229.2:c.274G>A p.Glu92Lys p.E92K ENST00000333229 NM_018963.4 92 Gaa/Aaa 0 -BSN UCSF GRCh37 3 49680186 49680186 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 41 74 0 ENST00000296452.4:c.1119C>T p.Thr373= p.T373= ENST00000296452 NM_003458.3 373 acC/acT 0 -BTBD2 UCSF GRCh37 19 1987249 1987249 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 18 61 0 ENST00000255608.4:c.1185C>T p.Phe395= p.F395= ENST00000255608 NM_017797.3 395 ttC/ttT 0 -BTN2A2 UCSF GRCh37 6 26390245 26390245 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 51 171 0 ENST00000356709.4:c.737C>T p.Pro246Leu p.P246L ENST00000356709 NM_001197240.1 246 cCc/cTc 0 -BTNL8 UCSF GRCh37 5 180376251 180376251 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 44 122 0 ENST00000340184.4:c.848C>T p.Ala283Val p.A283V ENST00000340184 NM_001040462.2 283 gCc/gTc 0 -BTNL8 UCSF GRCh37 5 180375366 180375366 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 145 125 273 0 ENST00000340184.4:c.799G>A p.Ala267Thr p.A267T ENST00000340184 NM_001040462.2 267 Gcg/Acg 0 -C10orf120 UCSF GRCh37 10 124459232 124459232 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 64 155 0 ENST00000329446.4:c.75G>A p.Arg25= p.R25= ENST00000329446 NM_001010912.2 25 agG/agA 0 -C11orf30 UCSF GRCh37 11 76234205 76234205 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 102 214 0 ENST00000529032.1:c.1691C>T p.Thr564Ile p.T564I ENST00000529032 564 aCt/aTt 0 -C11orf31 UCSF GRCh37 11 57509417 57509417 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 26 49 0 ENST00000388857.4:c.259G>A p.Asp87Asn p.D87N ENST00000388857 87 Gac/Aac 0 -C11orf88 UCSF GRCh37 11 111386773 111386773 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 61 152 0 ENST00000332814.6:c.277G>A p.Asp93Asn p.D93N ENST00000332814 NM_207430.2 93 Gac/Aac 0 -C11orf9 UCSF GRCh37 11 61550970 61550970 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 77 168 0 ENST00000278836.5:c.3017C>T p.Ala1006Val p.A1006V ENST00000278836 NM_001127392.1 1006 gCc/gTc 0 -C12orf34 UCSF GRCh37 12 110206997 110206997 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 13 16 24 0 ENST00000538780.1:c.1263C>T p.Ile421= p.I421= ENST00000538780 NM_032829.2 421 atC/atT 0 -C12orf48 UCSF GRCh37 12 102542198 102542198 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 93 144 0 ENST00000358383.5:c.344G>A p.Arg115Lys p.R115K ENST00000358383 115 aGg/aAg 0 -C12orf54 UCSF GRCh37 12 48888711 48888711 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 104 74 166 0 ENST00000314014.2:c.373C>T p.Pro125Ser p.P125S ENST00000314014 NM_152319.3 125 Cct/Tct 0 -C12orf54 UCSF GRCh37 12 48886731 48886731 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 29 84 0 ENST00000314014.2:c.195G>A p.Gly65= p.G65= ENST00000314014 NM_152319.3 65 ggG/ggA 0 -C14orf159 UCSF GRCh37 14 91671083 91671083 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 22 56 0 ENST00000518868.1:c.1478G>A p.Gly493Asp p.G493D ENST00000518868 NM_001286470.1 493 gGt/gAt 0 -C14orf159 UCSF GRCh37 14 91691107 91691107 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 33 27 52 0 ENST00000518868.1:c.1796G>A p.Gly599Glu p.G599E ENST00000518868 NM_001286470.1 599 gGg/gAg 0 -C14orf38 UCSF GRCh37 14 60027919 60027919 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 58 122 0 ENST00000537690.2:c.871G>A p.Ala291Thr p.A291T ENST00000537690 NM_001164399.1 291 Gca/Aca 0 -C14orf49 UCSF GRCh37 14 95921754 95921754 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 31 39 49 0 ENST00000334258.5:c.1097G>A p.Gly366Glu p.G366E ENST00000334258 NM_152592.3 366 gGg/gAg 0 -C15orf23 UCSF GRCh37 15 40683693 40683693 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 47 125 0 ENST00000249776.8:c.686-1G>A p.X229_splice ENST00000249776 NM_033286.3 0 -C15orf33 UCSF GRCh37 15 49659753 49659753 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 50 138 0 ENST00000299338.6:c.1163G>A p.Gly388Glu p.G388E ENST00000299338 NM_152647.2 388 gGa/gAa 0 -C15orf40 UCSF GRCh37 15 83677377 83677377 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 72 162 0 ENST00000451195.3:c.289G>A p.Gly97Arg p.G97R ENST00000451195 NM_001160115.1 97 Gga/Aga 0 -C15orf42 UCSF GRCh37 15 90167242 90167242 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 97 180 0 ENST00000268138.7:c.3701C>T p.Ala1234Val p.A1234V ENST00000268138 1234 gCc/gTc 0 -C15orf42 UCSF GRCh37 15 90119379 90119379 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 30 66 0 ENST00000268138.7:c.562G>A p.Val188Met p.V188M ENST00000268138 188 Gtg/Atg 0 -C16orf3 UCSF GRCh37 16 90095702 90095702 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 29 69 0 ENST00000408886.2:c.49C>T p.Pro17Ser p.P17S ENST00000408886 NM_001214.3 17 Ccc/Tcc 0 -C16orf48 UCSF GRCh37 16 67698965 67698965 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 56 148 0 ENST00000243878.4:c.387C>T p.Pro129= p.P129= ENST00000243878 NM_032140.1 129 ccC/ccT 0 -C17orf104 UCSF GRCh37 17 42743859 42743859 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 110 244 0 ENST00000409122.2:c.580G>A p.Ala194Thr p.A194T ENST00000409122 NM_001145080.2 194 Gct/Act 0 -SEPTIN4 UCSF GRCh37 17 56620740 56620740 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 107 214 0 ENST00000321691.3:c.808G>A p.Asp270Asn p.D270N ENST00000321691 NM_001038704.2 270 Gac/Aac 0 -C17orf63 UCSF GRCh37 17 27086333 27086333 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 12 40 0 ENST00000341217.5:c.644C>T p.Ala215Val p.A215V ENST00000341217 NM_001288633.1 215 gCt/gTt 0 -C17orf87 UCSF GRCh37 17 5114220 5114220 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 56 114 0 ENST00000574081.1:c.314C>T p.Ala105Val p.A105V ENST00000574081 NM_001271842.1 105 gCt/gTt 0 -C17orf87 UCSF GRCh37 17 5126707 5126707 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 118 49 211 0 ENST00000574081.1:c.66C>T p.Ile22= p.I22= ENST00000574081 NM_001271842.1 22 atC/atT 0 -C18orf45 UCSF GRCh37 18 20878020 20878020 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 37 75 0 ENST00000383233.3:c.842G>A p.Gly281Asp p.G281D ENST00000383233 NM_032933.4 281 gGt/gAt 0 -C19orf12 UCSF GRCh37 19 30199172 30199172 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 59 128 0 ENST00000392278.2:c.182G>A p.Gly61Glu p.G61E ENST00000392278 NM_001031726.3 61 gGa/gAa 0 -C19orf21 UCSF GRCh37 19 758600 758600 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 47 74 0 ENST00000215582.6:c.1654G>A p.Glu552Lys p.E552K ENST00000215582 NM_173481.2 552 Gag/Aag 0 -C19orf22 UCSF GRCh37 19 902122 902122 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 26 69 0 ENST00000361574.5:c.80C>T p.Pro27Leu p.P27L ENST00000361574 NM_138774.3 27 cCc/cTc 0 -C19orf44 UCSF GRCh37 19 16625456 16625456 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 11 22 0 ENST00000221671.3:c.1884C>T p.Thr628= p.T628= ENST00000221671 NM_032207.2 628 acC/acT 0 -C1orf227 UCSF GRCh37 1 213009442 213009442 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 78 204 0 ENST00000332912.3:c.50G>A p.Ser17Asn p.S17N ENST00000332912 NM_001024601.2 17 aGc/aAc 0 -C1orf27 UCSF GRCh37 1 186349002 186349002 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 76 191 0 ENST00000287859.6:c.85C>T p.Leu29Phe p.L29F ENST00000287859 NM_017847.5 29 Ctt/Ttt 0 -C1orf53 UCSF GRCh37 1 197874934 197874934 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 98 95 175 0 ENST00000367393.3:c.273G>A p.Gln91= p.Q91= ENST00000367393 NM_001024594.2 91 caG/caA 0 -C1orf85 UCSF GRCh37 1 156264741 156264741 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 46 96 0 ENST00000362007.1:c.187G>A p.Gly63Ser p.G63S ENST00000362007 NM_001256609.1 63 Ggc/Agc 0 -C1orf87 UCSF GRCh37 1 60505833 60505833 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 77 151 0 ENST00000371201.3:c.503G>A p.Ser168Asn p.S168N ENST00000371201 NM_152377.2 168 aGt/aAt 0 -C1QA UCSF GRCh37 1 22964259 22964259 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 15 23 1 ENST00000374642.3:c.150G>A p.Glu50= p.E50= ENST00000374642 NM_015991.2 50 gaG/gaA 0 -C1QTNF1 UCSF GRCh37 17 77042661 77042661 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 81 127 0 ENST00000339142.2:c.180C>T p.Tyr60= p.Y60= ENST00000339142 NM_198593.3 60 taC/taT 0 -C1QTNF5 UCSF GRCh37 11 119210158 119210158 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 53 106 0 ENST00000445041.2:c.615G>A p.Val205= p.V205= ENST00000445041 NM_031433.3 205 gtG/gtA 0 -C1R UCSF GRCh37 12 7242704 7242704 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 46 104 0 ENST00000542285.1:c.369G>A p.Glu123= p.E123= ENST00000542285 123 gaG/gaA 0 -C20orf103 UCSF GRCh37 20 9496254 9496254 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 90 162 0 ENST00000246070.2:c.219G>A p.Trp73Ter p.W73* ENST00000246070 NM_012261.3 73 tgG/tgA 0 -C20orf165 UCSF GRCh37 20 44515234 44515234 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 73 133 0 ENST00000372519.3:c.606G>A p.Gln202= p.Q202= ENST00000372519 NM_080608.3 202 caG/caA 0 -C20orf26 UCSF GRCh37 20 20177327 20177327 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 137 141 215 0 ENST00000245957.5:c.1704G>A p.Arg568= p.R568= ENST00000245957 NM_015585.3 568 cgG/cgA 0 -C20orf43 UCSF GRCh37 20 55052172 55052172 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 47 69 0 ENST00000023939.4:c.390C>T p.Gly130= p.G130= ENST00000023939 NM_016407.3 130 ggC/ggT 0 -C21orf62 UCSF GRCh37 21 34166277 34166277 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 60 108 0 ENST00000536776.1:c.456G>A p.Glu152= p.E152= ENST00000536776 NM_019596.5 152 gaG/gaA 0 -C22orf29 UCSF GRCh37 22 19839078 19839078 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 63 121 0 ENST00000405640.1:c.707C>T p.Ala236Val p.A236V ENST00000405640 236 gCc/gTc 0 -C2orf49 UCSF GRCh37 2 105959619 105959619 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 55 146 0 ENST00000258457.2:c.581C>T p.Pro194Leu p.P194L ENST00000258457 194 cCt/cTt 0 -C2orf53 UCSF GRCh37 2 27360284 27360284 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 36 76 0 ENST00000335524.3:c.914G>A p.Gly305Asp p.G305D ENST00000335524 NM_178553.3 305 gGc/gAc 0 -C2orf78 UCSF GRCh37 2 74041181 74041181 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 134 109 249 0 ENST00000409561.1:c.675C>T p.Cys225= p.C225= ENST00000409561 NM_001080474.1 225 tgC/tgT 0 -C2orf80 UCSF GRCh37 2 209046029 209046029 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 44 132 0 ENST00000341287.4:c.207G>A p.Leu69= p.L69= ENST00000341287 NM_001099334.2 69 ctG/ctA 0 -C3orf20 UCSF GRCh37 3 14768455 14768455 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 60 113 0 ENST00000253697.3:c.1614C>T p.Ser538= p.S538= ENST00000253697 NM_032137.4 538 agC/agT 0 -C3orf77 UCSF GRCh37 3 44312208 44312208 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 52 117 0 ENST00000309765.4:c.3278C>T p.Pro1093Leu p.P1093L ENST00000309765 NM_001145030.1 1093 cCc/cTc 0 -C5 UCSF GRCh37 9 123785682 123785682 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 250 125 231 0 ENST00000223642.1:c.1116G>A p.Lys372= p.K372= ENST00000223642 NM_001735.2 372 aaG/aaA 0 -C6orf162 UCSF GRCh37 6 88046815 88046815 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 65 160 0 ENST00000392863.1:c.66C>T p.Ser22= p.S22= ENST00000392863 NM_001042493.1 22 agC/agT 0 -C6orf211 UCSF GRCh37 6 151775763 151775763 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 50 138 0 ENST00000367294.3:c.122G>A p.Ser41Asn p.S41N ENST00000367294 NM_024573.1 41 aGt/aAt 0 -C6orf26 UCSF GRCh37 6 31732246 31732246 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 34 101 0 ENST00000415669.2:c.475C>T p.Pro159Ser p.P159S ENST00000415669 NM_001039651.1 159 Cca/Tca 0 -C6orf97 UCSF GRCh37 6 151917610 151917610 + synonymous_variant Silent SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 74 74 154 0 ENST00000239374.7:c.1608G>A p.Arg536= p.R536= ENST00000239374 NM_025059.3 536 agG/agA 0 -C6orf97 UCSF GRCh37 6 151907095 151907095 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 25 79 0 ENST00000239374.7:c.1164G>A p.Gln388= p.Q388= ENST00000239374 NM_025059.3 388 caG/caA 0 -C7orf25 UCSF GRCh37 7 42950222 42950222 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 120 114 200 0 ENST00000431882.2:c.452G>A p.Gly151Asp p.G151D ENST00000431882 151 gGt/gAt 0 -C8B UCSF GRCh37 1 57399066 57399066 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 43 112 0 ENST00000371237.4:c.1494G>A p.Lys498= p.K498= ENST00000371237 NM_000066.3 498 aaG/aaA 0 -C8orf58 UCSF GRCh37 8 22459558 22459558 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 13 16 0 ENST00000289989.5:c.731G>A p.Gly244Glu p.G244E ENST00000289989 244 gGg/gAg 0 -C9orf172 UCSF GRCh37 9 139741661 139741661 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 13 11 0 ENST00000436881.1:c.2795G>A p.Arg932Lys p.R932K ENST00000436881 NM_001080482.2 932 aGg/aAg 0 -C9orf172 UCSF GRCh37 9 139739794 139739794 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 42 22 46 0 ENST00000436881.1:c.928T>C p.Tyr310His p.Y310H ENST00000436881 NM_001080482.2 310 Tat/Cat 0 -C9orf79 UCSF GRCh37 9 90499973 90499973 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 161 64 124 0 ENST00000325643.5:c.571C>T p.Pro191Ser p.P191S ENST00000325643 NM_178828.4 191 Cca/Tca 0 -C9orf79 UCSF GRCh37 9 90500779 90500779 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 201 106 183 0 ENST00000325643.5:c.1377G>A p.Arg459= p.R459= ENST00000325643 NM_178828.4 459 agG/agA 0 -C9orf86 UCSF GRCh37 9 139726289 139726289 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 33 63 0 ENST00000371663.4:c.575G>A p.Arg192His p.R192H ENST00000371663 NM_001173988.1 192 cGt/cAt 0 -C9orf96 UCSF GRCh37 9 136268843 136268843 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 17 54 0 ENST00000371957.3:c.1494C>T p.Ala498= p.A498= ENST00000371957 NM_153710.4 498 gcC/gcT 0 -CA11 UCSF GRCh37 19 49143459 49143459 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 37 92 0 ENST00000084798.4:c.364G>A p.Gly122Ser p.G122S ENST00000084798 NM_001217.3 122 Ggt/Agt 0 -CA2 UCSF GRCh37 8 86377684 86377684 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 43 99 0 ENST00000285379.5:c.218C>T p.Ser73Phe p.S73F ENST00000285379 NM_000067.2 73 tCt/tTt 0 -CA8 UCSF GRCh37 8 61135318 61135318 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 44 100 0 ENST00000317995.4:c.628C>T p.Pro210Ser p.P210S ENST00000317995 NM_004056.4 210 Cct/Tct 0 -CACNA1B UCSF GRCh37 9 141015928 141015928 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 20 39 0 ENST00000371372.1:c.6497G>A p.Gly2166Asp p.G2166D ENST00000371372 NM_001243812.1 2166 gGt/gAt 0 -CACNA1B UCSF GRCh37 9 140811871 140811871 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 178 77 151 0 ENST00000371372.1:c.954C>T p.Asp318= p.D318= ENST00000371372 NM_001243812.1 318 gaC/gaT 0 -CACNA1B UCSF GRCh37 9 141012494 141012494 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 29 49 0 ENST00000371372.1:c.5874C>T p.Gly1958= p.G1958= ENST00000371372 NM_001243812.1 1958 ggC/ggT 0 -CACNA1C UCSF GRCh37 12 2614007 2614007 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 69 134 0 ENST00000347598.4:c.1114-1G>A p.X372_splice ENST00000347598 NM_199460.2 0 -CACNA1C UCSF GRCh37 12 2675744 2675744 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 32 55 0 ENST00000347598.4:c.1665C>T p.Val555= p.V555= ENST00000347598 NM_199460.2 555 gtC/gtT 0 -CACNA1H UCSF GRCh37 16 1260652 1260652 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 37 49 0 ENST00000348261.5:c.4038+1G>A p.X1346_splice ENST00000348261 NM_021098.2 0 -CACNA2D2 UCSF GRCh37 3 50404048 50404048 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 23 52 0 ENST00000479441.1:c.2619C>T p.Pro873= p.P873= ENST00000479441 873 ccC/ccT 0 -CACNA2D3 UCSF GRCh37 3 54880479 54880479 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 50 126 0 ENST00000474759.1:c.1611G>A p.Pro537= p.P537= ENST00000474759 NM_018398.2 537 ccG/ccA 0 -CACNA2D4 UCSF GRCh37 12 1910226 1910226 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 28 56 0 ENST00000382722.5:c.2851G>A p.Ala951Thr p.A951T ENST00000382722 NM_172364.4 951 Gcc/Acc 0 -CACNA2D4 UCSF GRCh37 12 2022207 2022207 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 57 131 1 ENST00000382722.5:c.408G>A p.Arg136= p.R136= ENST00000382722 NM_172364.4 136 agG/agA 0 -CADM1 UCSF GRCh37 11 115109292 115109292 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 73 143 0 ENST00000452722.3:c.352G>A p.Asp118Asn p.D118N ENST00000452722 NM_014333.3 118 Gat/Aat 0 -CADPS2 UCSF GRCh37 7 122377008 122377008 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 63 178 0 ENST00000449022.2:c.453+1G>A p.X151_splice ENST00000449022 NM_017954.10 0 -CADPS2 UCSF GRCh37 7 122303612 122303612 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 76 183 0 ENST00000449022.2:c.465G>A p.Lys155= p.K155= ENST00000449022 NM_017954.10 155 aaG/aaA 0 -CADPS2 UCSF GRCh37 7 122377060 122377060 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 63 157 0 ENST00000449022.2:c.402C>T p.Thr134= p.T134= ENST00000449022 NM_017954.10 134 acC/acT 0 -CALCB UCSF GRCh37 11 15098966 15098966 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 36 97 0 ENST00000533448.1:c.359G>A p.Arg120Lys p.R120K ENST00000533448 120 aGg/aAg 0 -CAMKK2 UCSF GRCh37 12 121687675 121687675 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 40 130 0 ENST00000324774.5:c.1238C>T p.Pro413Leu p.P413L ENST00000324774 NM_006549.3 413 cCc/cTc 0 -CAMKK2 UCSF GRCh37 12 121711908 121711908 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 10 13 0 ENST00000324774.5:c.422C>T p.Pro141Leu p.P141L ENST00000324774 NM_006549.3 141 cCc/cTc 0 -CAMTA2 UCSF GRCh37 17 4876206 4876206 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 64 100 0 ENST00000414043.3:c.2430C>T p.Asp810= p.D810= ENST00000414043 NM_001171167.1 810 gaC/gaT 0 -CAMT-ND1 UCSF GRCh37 12 67696174 67696174 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 117 103 188 0 ENST00000545606.1:c.1072G>A p.Asp358Asn p.D358N ENST00000545606 NM_018448.3 358 Gat/Aat 0 -CARD11 UCSF GRCh37 7 2977659 2977659 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 64 63 136 0 ENST00000396946.4:c.1025A>G p.Glu342Gly p.E342G ENST00000396946 NM_032415.4 342 gAg/gGg 0 -CARD14 UCSF GRCh37 17 78169384 78169384 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 16 29 0 ENST00000573882.1:c.1527C>T p.Asp509= p.D509= ENST00000573882 509 gaC/gaT 0 -CARD17P UCSF GRCh37 11 104971470 104971470 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 131 125 228 0 ENST00000375707.1:c.44G>A p.Arg15His p.R15H ENST00000375707 NM_001007232.1 15 cGt/cAt 0 -CARD9 UCSF GRCh37 9 139265296 139265296 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 21 57 0 ENST00000371732.5:c.624G>A p.Leu208= p.L208= ENST00000371732 NM_052813.4 208 ctG/ctA 0 -CASC5 UCSF GRCh37 15 40915103 40915103 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 99 194 0 ENST00000346991.5:c.2719G>A p.Glu907Lys p.E907K ENST00000346991 907 Gaa/Aaa 0 -CASKIN2 UCSF GRCh37 17 73501718 73501718 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 60 116 0 ENST00000321617.3:c.850C>T p.Leu284= p.L284= ENST00000321617 NM_020753.4 284 Ctg/Ttg 0 -CASP7 UCSF GRCh37 10 115481526 115481526 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 58 147 0 ENST00000369321.2:c.463C>T p.Leu155= p.L155= ENST00000369321 NM_033338.5 155 Ctg/Ttg 0 -CASR UCSF GRCh37 3 122003642 122003642 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 61 65 0 ENST00000498619.1:c.2871C>T p.Pro957= p.P957= ENST00000498619 NM_001178065.1 957 ccC/ccT 0 -CAST UCSF GRCh37 5 96089776 96089776 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 59 136 0 ENST00000395812.2:c.1414C>T p.Pro472Ser p.P472S ENST00000395812 NM_001042440.2 472 Cca/Tca 0 -CASZ1 UCSF GRCh37 1 10720370 10720370 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 39 40 55 0 ENST00000377022.3:c.729C>T p.Ile243= p.I243= ENST00000377022 NM_001079843.2 243 atC/atT 0 -CATSPER1 UCSF GRCh37 11 65793321 65793321 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 30 71 0 ENST00000312106.5:c.530G>A p.Gly177Glu p.G177E ENST00000312106 NM_053054.3 177 gGg/gAg 0 -CATSPERB UCSF GRCh37 14 92159568 92159568 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 75 196 0 ENST00000256343.3:c.733G>A p.Val245Met p.V245M ENST00000256343 NM_024764.2 245 Gtg/Atg 0 -CBLN1 UCSF GRCh37 16 49315254 49315254 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 32 57 0 ENST00000219197.6:c.123C>T p.Asn41= p.N41= ENST00000219197 NM_004352.3 41 aaC/aaT 0 -CBX6 UCSF GRCh37 22 39262814 39262814 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 34 53 0 ENST00000407418.3:c.639G>A p.Lys213= p.K213= ENST00000407418 213 aaG/aaA 0 -CBY3 UCSF GRCh37 5 179106004 179106004 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 6 10 0 ENST00000376974.4:c.309C>T p.Thr103= p.T103= ENST00000376974 NM_001164444.1 103 acC/acT 0 -CCBP2 UCSF GRCh37 3 42907103 42907103 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 60 116 0 ENST00000422265.1:c.1109C>T p.Ser370Phe p.S370F ENST00000422265 NM_001296.4 370 tCt/tTt 0 -CCDC108 UCSF GRCh37 2 219870840 219870840 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 32 63 0 ENST00000341552.5:c.4825C>T p.Pro1609Ser p.P1609S ENST00000341552 NM_194302.3 1609 Cca/Tca 0 -CCDC109B UCSF GRCh37 4 110606512 110606512 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 62 143 0 ENST00000394650.4:c.922G>A p.Asp308Asn p.D308N ENST00000394650 NM_017918.4 308 Gac/Aac 0 -CCDC120 UCSF GRCh37 X 48920079 48920079 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 16 43 0 ENST00000422185.2:c.130G>A p.Glu44Lys p.E44K ENST00000422185 NM_001163322.2 44 Gag/Aag 0 -CCDC129 UCSF GRCh37 7 31692331 31692331 + intron_variant Intron SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 70 179 0 ENST00000451887.2:c.3067+34C>T *1023* ENST00000451887 NM_001257968.1 0 -CCDC151 UCSF GRCh37 19 11537720 11537720 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 35 52 0 ENST00000356392.4:c.585G>A p.Ala195= p.A195= ENST00000356392 NM_145045.4 195 gcG/gcA 0 -CCDC160 UCSF GRCh37 X 133379275 133379275 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 76 164 0 ENST00000517294.1:c.445C>T p.Leu149Phe p.L149F ENST00000517294 149 Ctt/Ttt 0 -CCDC17 UCSF GRCh37 1 46087330 46087330 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 10 31 0 ENST00000528266.1:c.1164C>T p.Gly388= p.G388= ENST00000528266 388 ggC/ggT 0 -CCDC19 UCSF GRCh37 1 159847195 159847195 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 93 189 1 ENST00000368099.4:c.1102G>A p.Glu368Lys p.E368K ENST00000368099 NM_012337.2 368 Gag/Aag 0 -CCDC38 UCSF GRCh37 12 96310966 96310966 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 61 137 0 ENST00000344280.3:c.245G>A p.Ser82Asn p.S82N ENST00000344280 NM_182496.2 82 aGt/aAt 0 -CCDC38 UCSF GRCh37 12 96263314 96263314 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 117 99 195 0 ENST00000344280.3:c.1522C>T p.Gln508Ter p.Q508* ENST00000344280 NM_182496.2 508 Caa/Taa 0 -CCDC40 UCSF GRCh37 17 78073441 78073441 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 49 102 0 ENST00000397545.4:c.3296G>A p.Arg1099His p.R1099H ENST00000397545 NM_017950.3 1099 cGc/cAc 0 -CCDC60 UCSF GRCh37 12 119909884 119909884 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 125 106 204 0 ENST00000327554.2:c.256C>T p.Leu86Phe p.L86F ENST00000327554 NM_178499.3 86 Ctt/Ttt 0 -CCDC61 UCSF GRCh37 19 46519955 46519955 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 12 32 0 ENST00000595358.1:c.1095G>A p.Gln365= p.Q365= ENST00000595358 NM_001267723.1 365 caG/caA 0 -CCDC67 UCSF GRCh37 11 93122241 93122241 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 54 108 0 ENST00000298050.3:c.991C>T p.Leu331= p.L331= ENST00000298050 NM_181645.3 331 Ctg/Ttg 0 -CCDC69 UCSF GRCh37 5 150565012 150565012 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 79 173 0 ENST00000355417.2:c.586G>A p.Asp196Asn p.D196N ENST00000355417 NM_015621.2 196 Gac/Aac 0 -CCDC7 UCSF GRCh37 10 32740580 32740580 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 112 48 108 0 ENST00000362006.5:c.10G>A p.Val4Ile p.V4I ENST00000362006 NM_145023.4 4 Gta/Ata 0 -CCDC83 UCSF GRCh37 11 85627205 85627205 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 91 208 0 ENST00000280245.4:c.1102G>A p.Glu368Lys p.E368K ENST00000280245 NM_173556.3 368 Gaa/Aaa 0 -CCDC88C UCSF GRCh37 14 91766365 91766365 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 16 29 0 ENST00000389857.6:c.3685G>A p.Val1229Ile p.V1229I ENST00000389857 NM_001080414.3 1229 Gtc/Atc 0 -CCDC96 UCSF GRCh37 4 7043007 7043007 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 58 124 0 ENST00000310085.4:c.1659C>T p.Leu553= p.L553= ENST00000310085 NM_153376.2 553 ctC/ctT 0 -CCDC97 UCSF GRCh37 19 41822402 41822402 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 33 69 0 ENST00000269967.3:c.160G>A p.Asp54Asn p.D54N ENST00000269967 NM_052848.1 54 Gac/Aac 0 -CCNB3 UCSF GRCh37 X 50052651 50052651 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 47 140 0 ENST00000376042.1:c.1482G>A p.Lys494= p.K494= ENST00000376042 494 aaG/aaA 0 -CCNG1 UCSF GRCh37 5 162866334 162866334 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 85 187 0 ENST00000340828.2:c.72G>A p.Glu24= p.E24= ENST00000340828 NM_004060.3 24 gaG/gaA 0 -CCT6B UCSF GRCh37 17 33269619 33269619 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 32 117 0 ENST00000314144.5:c.769G>A p.Glu257Lys p.E257K ENST00000314144 NM_006584.3 257 Gag/Aag 0 -CCT8 UCSF GRCh37 21 30439086 30439086 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 47 127 0 ENST00000286788.4:c.575C>T p.Pro192Leu p.P192L ENST00000286788 NM_006585.2 192 cCt/cTt 0 -CD109 UCSF GRCh37 6 74519837 74519837 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 23 56 0 ENST00000287097.5:c.3486C>T p.Ile1162= p.I1162= ENST00000287097 1162 atC/atT 0 -CD163 UCSF GRCh37 12 7635298 7635298 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 96 209 0 ENST00000359156.4:c.3188C>T p.Ala1063Val p.A1063V ENST00000359156 NM_004244.5 1063 gCc/gTc 0 -CD163L1 UCSF GRCh37 12 7531826 7531826 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 43 127 0 ENST00000313599.3:c.2119G>A p.Val707Ile p.V707I ENST00000313599 707 Gtc/Atc 0 -CD1A UCSF GRCh37 1 158226682 158226682 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 62 158 0 ENST00000289429.5:c.711G>A p.Trp237Ter p.W237* ENST00000289429 NM_001763.2 237 tgG/tgA 0 -CD300C UCSF GRCh37 17 72537841 72537841 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 60 100 0 ENST00000330793.1:c.562G>A p.Val188Ile p.V188I ENST00000330793 NM_006678.4 188 Gtc/Atc 0 -CD34 UCSF GRCh37 1 208062847 208062847 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 36 97 0 ENST00000310833.7:c.717G>A p.Arg239= p.R239= ENST00000310833 NM_001025109.1 239 agG/agA 0 -CD80 UCSF GRCh37 3 119263481 119263481 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 78 159 0 ENST00000264246.3:c.334G>A p.Gly112Ser p.G112S ENST00000264246 NM_005191.3 112 Ggc/Agc 0 -CD93 UCSF GRCh37 20 23066153 23066153 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 84 147 0 ENST00000246006.4:c.677G>A p.Gly226Glu p.G226E ENST00000246006 NM_012072.3 226 gGg/gAg 0 -CDAN1 UCSF GRCh37 15 43023884 43023884 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 37 89 0 ENST00000356231.3:c.1673C>T p.Pro558Leu p.P558L ENST00000356231 NM_138477.2 558 cCc/cTc 0 -CDC42BPA UCSF GRCh37 1 227221096 227221096 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 60 88 0 ENST00000366769.3:c.3392G>A p.Ser1131Asn p.S1131N ENST00000366769 NM_003607.3 1131 aGt/aAt 0 -CDC42BPG UCSF GRCh37 11 64602989 64602989 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 58 100 1 ENST00000342711.5:c.1863G>A p.Glu621= p.E621= ENST00000342711 NM_017525.2 621 gaG/gaA 0 -CDC42BPG UCSF GRCh37 11 64597433 64597433 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 25 44 0 ENST00000342711.5:c.3477C>T p.Ala1159= p.A1159= ENST00000342711 NM_017525.2 1159 gcC/gcT 0 -CDH12 UCSF GRCh37 5 21765100 21765100 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 92 172 0 ENST00000382254.1:c.1502C>T p.Ala501Val p.A501V ENST00000382254 NM_004061.3 501 gCc/gTc 0 -CDH13 UCSF GRCh37 16 83065776 83065776 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 48 116 0 ENST00000268613.10:c.460G>A p.Ala154Thr p.A154T ENST00000268613 154 Gca/Aca 0 -CDH15 UCSF GRCh37 16 89245890 89245890 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 39 41 80 0 ENST00000289746.2:c.109G>A p.Ala37Thr p.A37T ENST00000289746 NM_004933.2 37 Gcg/Acg 0 -CDH16 UCSF GRCh37 16 66946301 66946301 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 65 136 0 ENST00000299752.4:c.1392G>A p.Glu464= p.E464= ENST00000299752 NM_001204744.1 464 gaG/gaA 0 -CDH2 UCSF GRCh37 18 25585916 25585916 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 71 155 0 ENST00000269141.3:c.744G>A p.Glu248= p.E248= ENST00000269141 NM_001792.3 248 gaG/gaA 0 -CDH22 UCSF GRCh37 20 44828073 44828073 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 19 26 0 ENST00000372262.3:c.1412C>T p.Ala471Val p.A471V ENST00000372262 471 gCc/gTc 0 -CDH23 UCSF GRCh37 10 73501557 73501557 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 33 70 0 ENST00000224721.6:c.4739C>T p.Ala1580Val p.A1580V ENST00000224721 NM_022124.5 1580 gCc/gTc 0 -CDH23 UCSF GRCh37 10 73574733 73574733 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 16 23 0 ENST00000398788.3:c.3043G>A p.Glu1015Lys p.E1015K ENST00000398788 NM_001171933.1 1015 Gag/Aag 0 -CDH24 UCSF GRCh37 14 23523457 23523457 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 75 154 0 ENST00000397359.3:c.865G>A p.Gly289Arg p.G289R ENST00000397359 NM_022478.3 289 Ggg/Agg 0 -CDH4 UCSF GRCh37 20 59829975 59829975 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 73 117 0 ENST00000360469.5:c.151G>A p.Gly51Arg p.G51R ENST00000360469 NM_001794.3 51 Ggg/Agg 0 -CDH4 UCSF GRCh37 20 60318838 60318838 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 16 18 0 ENST00000360469.5:c.389G>A p.Gly130Glu p.G130E ENST00000360469 NM_001794.3 130 gGa/gAa 0 -CDH6 UCSF GRCh37 5 31317805 31317805 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 67 167 0 ENST00000265071.2:c.1656G>A p.Arg552= p.R552= ENST00000265071 NM_004932.3 552 cgG/cgA 0 -CDHR3 UCSF GRCh37 7 105635292 105635292 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 45 101 0 ENST00000317716.9:c.608+1G>A p.X203_splice ENST00000317716 NM_152750.4 0 -CDK14 UCSF GRCh37 7 90741873 90741873 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 117 98 194 0 ENST00000265741.3:c.1117C>T p.His373Tyr p.H373Y ENST00000265741 NM_012395.2 373 Cat/Tat 0 -CDK15 UCSF GRCh37 2 202672281 202672281 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 71 209 0 ENST00000450471.2:c.188C>T p.Ala63Val p.A63V ENST00000450471 NM_001261435.1 63 gCc/gTc 0 -CDK15 UCSF GRCh37 2 202755512 202755512 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 39 142 0 ENST00000450471.2:c.1199-14G>A *400* ENST00000450471 NM_001261435.1 0 -CDK20 UCSF GRCh37 9 90582463 90582464 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P10_Rec Untested WXS Illumina HiSeq 10 0 ENST00000325303.8:c.955dup p.His319ProfsTer4 p.H319Pfs*4 ENST00000325303 NM_001039803.2 318 -/C 0 -CDK5R2 UCSF GRCh37 2 219825281 219825281 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 58 98 0 ENST00000302625.4:c.739C>T p.Leu247= p.L247= ENST00000302625 NM_003936.4 247 Ctg/Ttg 0 -CDK5RAP2 UCSF GRCh37 9 123291061 123291061 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 32 88 0 ENST00000349780.4:c.840G>A p.Glu280= p.E280= ENST00000349780 NM_018249.5 280 gaG/gaA 0 -CDKN2A UCSF GRCh37 9 21971017 21971017 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 0 36 38 0 ENST00000304494.5:c.341C>T p.Pro114Leu p.P114L ENST00000304494 NM_000077.4 114 cCc/cTc 0 -CDKN2AIP UCSF GRCh37 4 184367664 184367664 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 84 159 0 ENST00000504169.1:c.827G>A p.Gly276Asp p.G276D ENST00000504169 NM_017632.2 276 gGc/gAc 0 -CDKN2C UCSF GRCh37 1 51436058 51436058 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 64 120 0 ENST00000262662.1:c.18G>A p.Gly6= p.G6= ENST00000262662 6 ggG/ggA 0 -CDRT4 UCSF GRCh37 17 15341337 15341337 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 117 84 168 0 ENST00000312177.6:c.209C>T p.Ser70Phe p.S70F ENST00000312177 NM_001204477.1 70 tCc/tTc 0 -CDS2 UCSF GRCh37 20 5169773 5169773 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 76 174 0 ENST00000460006.1:c.1042C>T p.Leu348Phe p.L348F ENST00000460006 NM_003818.3 348 Ctc/Ttc 0 -CDS2 UCSF GRCh37 20 5170793 5170793 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 50 107 0 ENST00000460006.1:c.1251G>A p.Arg417= p.R417= ENST00000460006 NM_003818.3 417 cgG/cgA 0 -CEACAM1 UCSF GRCh37 19 43031476 43031476 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 90 231 0 ENST00000161559.6:c.141G>A p.Glu47= p.E47= ENST00000161559 NM_001712.4 47 gaG/gaA 0 -CEBPG UCSF GRCh37 19 33870315 33870315 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 51 125 0 ENST00000284000.4:c.170C>T p.Pro57Leu p.P57L ENST00000284000 NM_001806.3 57 cCc/cTc 0 -CELA3B UCSF GRCh37 1 22304890 22304890 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 49 113 0 ENST00000337107.6:c.72C>T p.Arg24= p.R24= ENST00000337107 NM_007352.2 24 cgC/cgT 0 -CELF3 UCSF GRCh37 1 151679767 151679767 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 9 8 0 ENST00000290583.4:c.776C>T p.Thr259Ile p.T259I ENST00000290583 NM_001172648.1 259 aCc/aTc 0 -CELF6 UCSF GRCh37 15 72579614 72579614 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 60 127 0 ENST00000287202.5:c.1438C>T p.Pro480Ser p.P480S ENST00000287202 NM_052840.4 480 Cct/Tct 0 -CELSR3 UCSF GRCh37 3 48688385 48688385 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 38 62 0 ENST00000164024.4:c.6310G>A p.Gly2104Ser p.G2104S ENST00000164024 NM_001407.2 2104 Ggc/Agc 0 -CENPF UCSF GRCh37 1 214818138 214818138 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 58 140 0 ENST00000366955.3:c.5225C>T p.Ser1742Phe p.S1742F ENST00000366955 NM_016343.3 1742 tCt/tTt 0 -CENPJ UCSF GRCh37 13 25480951 25480951 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 66 159 0 ENST00000381884.4:c.1225G>A p.Asp409Asn p.D409N ENST00000381884 NM_018451.4 409 Gac/Aac 0 -CENPJ UCSF GRCh37 13 25486880 25486880 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 85 211 0 ENST00000381884.4:c.284C>T p.Thr95Ile p.T95I ENST00000381884 NM_018451.4 95 aCc/aTc 0 -CENPO UCSF GRCh37 2 25040671 25040671 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 45 106 0 ENST00000380834.2:c.899C>T p.Ser300Phe p.S300F ENST00000380834 300 tCc/tTc 0 -CEP128 UCSF GRCh37 14 81259283 81259283 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 79 77 160 0 ENST00000555265.1:c.1381T>C p.Tyr461His p.Y461H ENST00000555265 461 Tac/Cac 0 -CEP164 UCSF GRCh37 11 117232558 117232558 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 108 172 0 ENST00000278935.3:c.401G>A p.Gly134Asp p.G134D ENST00000278935 NM_014956.4 134 gGt/gAt 0 -CEP250 UCSF GRCh37 20 34086486 34086486 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 55 164 0 ENST00000397527.1:c.3718G>A p.Ala1240Thr p.A1240T ENST00000397527 NM_007186.3 1240 Gca/Aca 0 -CEP290 UCSF GRCh37 12 88508271 88508271 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 105 65 180 0 ENST00000552810.1:c.1978G>A p.Glu660Lys p.E660K ENST00000552810 NM_025114.3 660 Gaa/Aaa 0 -CEP72 UCSF GRCh37 5 637780 637780 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 41 99 0 ENST00000264935.5:c.1053G>A p.Leu351= p.L351= ENST00000264935 NM_018140.3 351 ttG/ttA 0 -CEP78 UCSF GRCh37 9 80879119 80879119 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 181 85 205 0 ENST00000376597.4:c.1515C>T p.Ala505= p.A505= ENST00000376597 NM_001098802.1 505 gcC/gcT 0 -CERCAM UCSF GRCh37 9 131193495 131193495 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 126 71 136 0 ENST00000372838.4:c.1116C>T p.Leu372= p.L372= ENST00000372838 NM_016174.4 372 ctC/ctT 0 -CFD UCSF GRCh37 19 861762 861762 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 11 10 0 ENST00000327726.6:c.421G>A p.Asp141Asn p.D141N ENST00000327726 NM_001928.2 141 Gac/Aac 0 -CFHR4 UCSF GRCh37 1 196871676 196871676 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 122 85 202 0 ENST00000367416.2:c.184C>T p.Pro62Ser p.P62S ENST00000367416 NM_001201551.1 62 Cct/Tct 0 -CFTR UCSF GRCh37 7 117120177 117120177 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 31 100 0 ENST00000003084.6:c.29G>A p.Ser10Asn p.S10N ENST00000003084 NM_000492.3 10 aGc/aAc 0 -CGN UCSF GRCh37 1 151491365 151491365 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 53 95 0 ENST00000271636.7:c.370C>T p.Pro124Ser p.P124S ENST00000271636 NM_020770.2 124 Cct/Tct 0 -CGRRF1 UCSF GRCh37 14 55004887 55004887 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 71 142 0 ENST00000216420.7:c.785G>A p.Ser262Asn p.S262N ENST00000216420 NM_006568.2 262 aGt/aAt 0 -CH25H UCSF GRCh37 10 90966981 90966981 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 9 24 0 ENST00000371852.2:c.69C>T p.Leu23= p.L23= ENST00000371852 NM_003956.3 23 ctC/ctT 0 -CHAF1B UCSF GRCh37 21 37763893 37763893 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 20 27 70 0 ENST00000314103.5:c.304G>A p.Glu102Lys p.E102K ENST00000314103 NM_005441.2 102 Gag/Aag 0 -CHD4 UCSF GRCh37 12 6687042 6687042 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 51 176 0 ENST00000357008.2:c.5270G>A p.Arg1757His p.R1757H ENST00000357008 NM_001273.2 1757 cGc/cAc 0 -CHD6 UCSF GRCh37 20 40112136 40112136 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 62 85 0 ENST00000373233.3:c.2281G>A p.Asp761Asn p.D761N ENST00000373233 NM_032221.4 761 Gat/Aat 0 -CHD6 UCSF GRCh37 20 40080485 40080485 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 60 124 0 ENST00000373233.3:c.3504G>A p.Gln1168= p.Q1168= ENST00000373233 NM_032221.4 1168 caG/caA 0 -CHD7 UCSF GRCh37 8 61754586 61754586 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 64 136 0 ENST00000423902.2:c.4825G>A p.Val1609Met p.V1609M ENST00000423902 NM_017780.3 1609 Gtg/Atg 0 -CHD8 UCSF GRCh37 14 21873407 21873407 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 122 112 197 0 ENST00000399982.2:c.3268G>A p.Glu1090Lys p.E1090K ENST00000399982 NM_001170629.1 1090 Gag/Aag 0 -CHD9 UCSF GRCh37 16 53190447 53190447 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 158 125 264 0 ENST00000566029.1:c.446C>T p.Ser149Phe p.S149F ENST00000566029 149 tCt/tTt 0 -CHEK2 UCSF GRCh37 22 29091791 29091791 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 62 154 0 ENST00000328354.6:c.1166C>T p.Thr389Ile p.T389I ENST00000328354 NM_007194.3 389 aCc/aTc 0 -CHGB UCSF GRCh37 20 5903741 5903741 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 50 128 0 ENST00000378961.4:c.951C>T p.Ser317= p.S317= ENST00000378961 NM_001819.2 317 agC/agT 0 -CHIA UCSF GRCh37 1 111861263 111861263 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 80 178 0 ENST00000369740.1:c.878C>T p.Pro293Leu p.P293L ENST00000369740 NM_001258001.1 293 cCc/cTc 0 -CHM UCSF GRCh37 X 85133991 85133991 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 23 59 0 ENST00000357749.2:c.1588C>T p.Pro530Ser p.P530S ENST00000357749 NM_000390.2 530 Cca/Tca 0 -CHMP1B UCSF GRCh37 18 11851745 11851745 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 76 140 0 ENST00000526991.2:c.235G>A p.Val79Ile p.V79I ENST00000526991 NM_020412.4 79 Gtc/Atc 0 -CHORDC1 UCSF GRCh37 11 89947281 89947281 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 89 193 0 ENST00000320585.6:c.234G>A p.Lys78= p.K78= ENST00000320585 NM_012124.2 78 aaG/aaA 0 -CHRDL1 UCSF GRCh37 X 109931867 109931868 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 0 ENST00000372042.1:c.943dup p.Ile315AsnfsTer12 p.I315Nfs*12 ENST00000372042 314 -/A 0 -CHRNA10 UCSF GRCh37 11 3690508 3690508 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 31 66 0 ENST00000250699.2:c.280G>A p.Asp94Asn p.D94N ENST00000250699 NM_020402.2 94 Gac/Aac 0 -CHRNA4 UCSF GRCh37 20 61981790 61981790 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 50 97 0 ENST00000370263.4:c.973G>A p.Val325Ile p.V325I ENST00000370263 NM_000744.6 325 Gtc/Atc 0 -CHST8 UCSF GRCh37 19 34263008 34263008 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 22 34 0 ENST00000262622.4:c.315G>A p.Leu105= p.L105= ENST00000262622 NM_022467.3 105 ctG/ctA 0 -CHST9 UCSF GRCh37 18 24496452 24496452 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 163 246 0 ENST00000284224.8:c.1103G>A p.Gly368Glu p.G368E ENST00000284224 NM_031422.5 368 gGg/gAg 0 -CHST9 UCSF GRCh37 18 24497034 24497034 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 120 120 227 0 ENST00000284224.8:c.521C>T p.Thr174Ile p.T174I ENST00000284224 NM_031422.5 174 aCc/aTc 0 -CHSY3 UCSF GRCh37 5 129521088 129521088 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 78 199 0 ENST00000305031.4:c.2253C>T p.Asp751= p.D751= ENST00000305031 NM_175856.4 751 gaC/gaT 0 -CHTF18 UCSF GRCh37 16 842965 842965 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 10 11 0 ENST00000262315.9:c.1573-1G>A p.X525_splice ENST00000262315 NM_022092.2 0 -CHTF18 UCSF GRCh37 16 844054 844054 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 31 55 0 ENST00000262315.9:c.1803G>A p.Arg601= p.R601= ENST00000262315 NM_022092.2 601 agG/agA 0 -CIC UCSF GRCh37 19 42790972 42790972 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 21 45 0 ENST00000575354.2:c.117C>T p.Ser39= p.S39= ENST00000575354 NM_015125.3 39 tcC/tcT 0 -CIC UCSF GRCh37 19 42791210 42791210 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 40 64 0 ENST00000575354.2:c.270G>A p.Gly90= p.G90= ENST00000575354 NM_015125.3 90 ggG/ggA 0 -CIRBP UCSF GRCh37 19 1272022 1272022 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 52 90 0 ENST00000588030.1:c.474G>A p.Gly158= p.G158= ENST00000588030 158 ggG/ggA 0 -CIZ1 UCSF GRCh37 9 130931423 130931423 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 217 76 178 0 ENST00000393608.1:c.2203G>A p.Asp735Asn p.D735N ENST00000393608 NM_012127.2 735 Gac/Aac 0 -CKAP5 UCSF GRCh37 11 46818424 46818424 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 111 175 0 ENST00000529230.1:c.1405G>A p.Val469Met p.V469M ENST00000529230 469 Gtg/Atg 0 -CLASP1 UCSF GRCh37 2 122165194 122165194 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 157 121 219 0 ENST00000263710.4:c.2522G>A p.Gly841Asp p.G841D ENST00000263710 NM_015282.2 841 gGc/gAc 0 -CLASRP UCSF GRCh37 19 45563812 45563812 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 18 57 0 ENST00000221455.3:c.790G>A p.Gly264Arg p.G264R ENST00000221455 NM_007056.2 264 Gga/Aga 0 -CLCN6 UCSF GRCh37 1 11896117 11896117 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 31 52 0 ENST00000346436.6:c.1887C>T p.Val629= p.V629= ENST00000346436 NM_001286.3 629 gtC/gtT 0 -CLCN7 UCSF GRCh37 16 1500610 1500610 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 10 17 0 ENST00000382745.4:c.1505G>A p.Cys502Tyr p.C502Y ENST00000382745 NM_001287.5 502 tGc/tAc 0 -CLDN9 UCSF GRCh37 16 3063446 3063446 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 26 56 0 ENST00000445369.2:c.83C>T p.Pro28Leu p.P28L ENST00000445369 NM_020982.3 28 cCc/cTc 0 -CLDN9 UCSF GRCh37 16 3063919 3063919 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 29 58 0 ENST00000445369.2:c.556C>T p.Pro186Ser p.P186S ENST00000445369 NM_020982.3 186 Ccc/Tcc 0 -CLEC16A UCSF GRCh37 16 11272427 11272427 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 53 88 0 ENST00000409790.1:c.3042C>T p.Asp1014= p.D1014= ENST00000409790 NM_015226.2 1014 gaC/gaT 0 -CLEC1B UCSF GRCh37 12 10147756 10147756 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 130 241 0 ENST00000298527.6:c.528G>A p.Ser176= p.S176= ENST00000298527 NM_016509.3 176 tcG/tcA 0 -CLEC4M UCSF GRCh37 19 7828322 7828322 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 87 157 0 ENST00000327325.5:c.90C>T p.Asp30= p.D30= ENST00000327325 NM_001144909.1 30 gaC/gaT 0 -CLK4 UCSF GRCh37 5 178043923 178043923 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 37 89 0 ENST00000316308.4:c.502G>A p.Gly168Arg p.G168R ENST00000316308 NM_020666.2 168 Gga/Aga 0 -CLPB UCSF GRCh37 11 72005736 72005736 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 48 100 0 ENST00000294053.3:c.1578G>A p.Gly526= p.G526= ENST00000294053 NM_001258394.1 526 ggG/ggA 0 -CLPP UCSF GRCh37 19 6364519 6364519 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 19 24 0 ENST00000245816.4:c.424C>T p.Pro142Ser p.P142S ENST00000245816 NM_006012.2 142 Ccg/Tcg 0 -CLPTM1L UCSF GRCh37 5 1344507 1344507 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 20 73 0 ENST00000320895.5:c.222C>T p.Val74= p.V74= ENST00000320895 NM_030782.3 74 gtC/gtT 0 -CLU UCSF GRCh37 8 27462723 27462723 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 41 87 0 ENST00000316403.10:c.547G>A p.Ala183Thr p.A183T ENST00000316403 183 Gcg/Acg 0 -CLVS1 UCSF GRCh37 8 62212733 62212733 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 60 128 0 ENST00000519846.1:c.347C>T p.Pro116Leu p.P116L ENST00000519846 116 cCc/cTc 0 -CLVS2 UCSF GRCh37 6 123319199 123319199 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 77 150 0 ENST00000275162.5:c.277G>A p.Asp93Asn p.D93N ENST00000275162 NM_001010852.3 93 Gac/Aac 0 -CMIP UCSF GRCh37 16 81703821 81703821 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 59 97 0 ENST00000537098.3:c.900G>A p.Gly300= p.G300= ENST00000537098 NM_198390.2 300 ggG/ggA 0 -CMYA5 UCSF GRCh37 5 79026452 79026452 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 137 147 275 0 ENST00000446378.2:c.1864G>A p.Glu622Lys p.E622K ENST00000446378 NM_153610.3 622 Gaa/Aaa 0 -CMYA5 UCSF GRCh37 5 79029525 79029525 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 125 115 192 0 ENST00000446378.2:c.4937G>A p.Gly1646Asp p.G1646D ENST00000446378 NM_153610.3 1646 gGt/gAt 0 -CMYA5 UCSF GRCh37 5 79034504 79034504 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 138 132 232 0 ENST00000446378.2:c.9916G>A p.Glu3306Lys p.E3306K ENST00000446378 NM_153610.3 3306 Gaa/Aaa 0 -CNGA1 UCSF GRCh37 4 47939393 47939393 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 134 126 236 0 ENST00000402813.3:c.1325C>T p.Ser442Phe p.S442F ENST00000402813 442 tCt/tTt 0 -CNGA1 UCSF GRCh37 4 47942856 47942856 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 63 164 0 ENST00000402813.3:c.795C>T p.Tyr265= p.Y265= ENST00000402813 265 taC/taT 0 -CNGB1 UCSF GRCh37 16 57937766 57937766 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 25 63 0 ENST00000251102.8:c.2754G>A p.Lys918= p.K918= ENST00000251102 NM_001297.4 918 aaG/aaA 0 -CNKSR2 UCSF GRCh37 X 21627446 21627446 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 87 187 0 ENST00000379510.3:c.2403C>T p.Ser801= p.S801= ENST00000379510 NM_014927.3 801 tcC/tcT 0 -CNN2 UCSF GRCh37 19 1037819 1037819 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 65 127 0 ENST00000263097.4:c.850C>T p.Pro284Ser p.P284S ENST00000263097 NM_004368.2 284 Ccc/Tcc 0 -CNPY4 UCSF GRCh37 7 99717410 99717410 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 37 86 0 ENST00000262932.3:c.43G>A p.Ala15Thr p.A15T ENST00000262932 NM_152755.1 15 Gcc/Acc 0 -CNR1 UCSF GRCh37 6 88853924 88853924 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 102 154 0 ENST00000537554.1:c.1070G>A p.Gly357Asp p.G357D ENST00000537554 NM_001160258.1 357 gGc/gAc 0 -CNTFR UCSF GRCh37 9 34557523 34557523 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 33 67 0 ENST00000378980.3:c.604+1G>A p.X202_splice ENST00000378980 NM_147164.2 0 -CNTN1 UCSF GRCh37 12 41330588 41330588 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 102 182 0 ENST00000551295.2:c.991C>T p.Pro331Ser p.P331S ENST00000551295 NM_001843.3 331 Cct/Tct 0 -CNTN2 UCSF GRCh37 1 205038637 205038637 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 22 41 0 ENST00000331830.4:c.2144C>T p.Ser715Leu p.S715L ENST00000331830 NM_005076.3 715 tCa/tTa 0 -CNTN2 UCSF GRCh37 1 205039621 205039621 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 14 44 0 ENST00000331830.4:c.2499G>A p.Trp833Ter p.W833* ENST00000331830 NM_005076.3 833 tgG/tgA 0 -COBRA1 UCSF GRCh37 9 140151381 140151381 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 119 50 118 0 ENST00000343053.4:c.472G>A p.Gly158Arg p.G158R ENST00000343053 NM_015456.3 158 Ggg/Agg 0 -COIL UCSF GRCh37 17 55028356 55028356 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 62 113 0 ENST00000240316.4:c.247G>A p.Val83Ile p.V83I ENST00000240316 NM_004645.2 83 Gtt/Att 0 -COL12A1 UCSF GRCh37 6 75898105 75898105 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 73 183 0 ENST00000322507.8:c.970C>T p.Leu324Phe p.L324F ENST00000322507 NM_004370.5 324 Ctt/Ttt 0 -COL14A1 UCSF GRCh37 8 121215987 121215987 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 36 85 0 ENST00000297848.3:c.917C>T p.Ala306Val p.A306V ENST00000297848 NM_021110.2 306 gCc/gTc 0 -COL14A1 UCSF GRCh37 8 121313017 121313017 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 304 89 204 0 ENST00000297848.3:c.4361C>T p.Ser1454Phe p.S1454F ENST00000297848 NM_021110.2 1454 tCt/tTt 0 -COL15A1 UCSF GRCh37 9 101810250 101810250 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 37 58 0 ENST00000375001.3:c.2761G>A p.Gly921Ser p.G921S ENST00000375001 NM_001855.4 921 Ggt/Agt 0 -COL19A1 UCSF GRCh37 6 70608851 70608851 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 35 120 0 ENST00000322773.4:c.103C>T p.Pro35Ser p.P35S ENST00000322773 NM_001858.4 35 Cct/Tct 0 -COL19A1 UCSF GRCh37 6 70859755 70859755 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 100 154 1 ENST00000322773.4:c.1942C>T p.Leu648Phe p.L648F ENST00000322773 NM_001858.4 648 Ctc/Ttc 0 -COL1A1 UCSF GRCh37 17 48263779 48263779 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 91 170 0 ENST00000225964.5:c.3904C>T p.Pro1302Ser p.P1302S ENST00000225964 NM_000088.3 1302 Ccc/Tcc 0 -COL1A1 UCSF GRCh37 17 48270368 48270368 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 21 43 0 ENST00000225964.5:c.1808C>T p.Pro603Leu p.P603L ENST00000225964 NM_000088.3 603 cCc/cTc 0 -COL1A2 UCSF GRCh37 7 94052288 94052288 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 82 180 0 ENST00000297268.6:c.2423G>A p.Gly808Asp p.G808D ENST00000297268 NM_000089.3 808 gGt/gAt 0 -COL1A2 UCSF GRCh37 7 94054440 94054440 + synonymous_variant Silent SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 30 14 95 0 ENST00000297268.6:c.2685T>C p.Gly895= p.G895= ENST00000297268 NM_000089.3 895 ggT/ggC 0 -COL22A1 UCSF GRCh37 8 139838948 139838948 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 255 51 110 1 ENST00000303045.6:c.922G>A p.Glu308Lys p.E308K ENST00000303045 NM_152888.1 308 Gaa/Aaa 0 -COL22A1 UCSF GRCh37 8 139611048 139611048 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 158 37 112 0 ENST00000303045.6:c.4279C>T p.Leu1427= p.L1427= ENST00000303045 NM_152888.1 1427 Ctg/Ttg 0 -COL23A1 UCSF GRCh37 5 177669372 177669372 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 26 26 69 0 ENST00000390654.3:c.1464G>A p.Glu488= p.E488= ENST00000390654 NM_173465.3 488 gaG/gaA 0 -COL23A1 UCSF GRCh37 5 177690266 177690266 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 21 26 47 0 ENST00000390654.3:c.582C>T p.Ala194= p.A194= ENST00000390654 NM_173465.3 194 gcC/gcT 0 -COL24A1 UCSF GRCh37 1 86200550 86200550 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 76 174 0 ENST00000370571.2:c.4880G>A p.Arg1627Lys p.R1627K ENST00000370571 NM_152890.5 1627 aGg/aAg 0 -COL27A1 UCSF GRCh37 9 116930191 116930191 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 43 77 0 ENST00000356083.3:c.356G>A p.Ser119Asn p.S119N ENST00000356083 NM_032888.2 119 aGc/aAc 0 -COL28A1 UCSF GRCh37 7 7493129 7493129 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 61 145 0 ENST00000399429.3:c.1382G>A p.Gly461Asp p.G461D ENST00000399429 NM_001037763.2 461 gGt/gAt 0 -COL28A1 UCSF GRCh37 7 7572463 7572463 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 94 201 0 ENST00000399429.3:c.44C>T p.Ala15Val p.A15V ENST00000399429 NM_001037763.2 15 gCg/gTg 0 -COL2A1 UCSF GRCh37 12 48377895 48377895 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 7 23 0 ENST00000380518.3:c.1916G>A p.Gly639Asp p.G639D ENST00000380518 NM_033150.2 639 gGt/gAt 0 -COL3A1 UCSF GRCh37 2 189849927 189849927 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 58 154 0 ENST00000304636.3:c.287C>T p.Thr96Ile p.T96I ENST00000304636 NM_000090.3 96 aCt/aTt 0 -COL4A6 UCSF GRCh37 X 107408120 107408120 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 32 55 0 ENST00000372216.4:c.3960G>A p.Glu1320= p.E1320= ENST00000372216 NM_001847.2 1320 gaG/gaA 0 -COL6A3 UCSF GRCh37 2 238261999 238261999 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 26 22 65 0 ENST00000295550.4:c.6675G>A p.Gly2225= p.G2225= ENST00000295550 NM_004369.3 2225 ggG/ggA 0 -COL6A5 UCSF GRCh37 3 130159572 130159572 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 85 213 0 ENST00000265379.6:c.6390C>T p.Tyr2130= p.Y2130= ENST00000265379 NM_001278298.1 2130 taC/taT 0 -COL6A6 UCSF GRCh37 3 130293243 130293243 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 98 175 0 ENST00000358511.6:c.3421G>A p.Asp1141Asn p.D1141N ENST00000358511 NM_001102608.1 1141 Gat/Aat 0 -COL9A1 UCSF GRCh37 6 70972963 70972963 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 21 64 0 ENST00000357250.6:c.1379G>A p.Gly460Glu p.G460E ENST00000357250 NM_001851.4 460 gGa/gAa 0 -COLEC12 UCSF GRCh37 18 346738 346738 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 64 129 0 ENST00000400256.3:c.884G>A p.Gly295Asp p.G295D ENST00000400256 NM_130386.2 295 gGt/gAt 0 -COQ10B UCSF GRCh37 2 198334869 198334869 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 24 91 0 ENST00000263960.2:c.523C>T p.Pro175Ser p.P175S ENST00000263960 NM_025147.3 175 Cca/Tca 0 -COQ2 UCSF GRCh37 4 84205914 84205914 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 18 31 0 ENST00000311469.4:c.154C>T p.Leu52= p.L52= ENST00000311469 NM_015697.7 52 Ctg/Ttg 0 -CORO2A UCSF GRCh37 9 100897104 100897104 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 25 43 0 ENST00000343933.5:c.452C>T p.Ala151Val p.A151V ENST00000343933 NM_003389.3 151 gCt/gTt 0 -COX4I1 UCSF GRCh37 16 85840402 85840402 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 66 120 0 ENST00000562336.1:c.432G>A p.Arg144= p.R144= ENST00000562336 144 agG/agA 0 -CPAMD8 UCSF GRCh37 19 17014386 17014386 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0021 P10_Rec Untested WXS Illumina HiSeq 84 63 126 0 ENST00000443236.1:c.4596C>T p.Gly1532= p.G1532= ENST00000443236 NM_015692.2 1532 ggC/ggT 0 -CPNE4 UCSF GRCh37 3 131268852 131268852 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 67 141 0 ENST00000512055.1:c.1241C>T p.Ala414Val p.A414V ENST00000512055 414 gCc/gTc 0 -CPOX UCSF GRCh37 3 98311991 98311991 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 17 20 0 ENST00000264193.2:c.358G>A p.Glu120Lys p.E120K ENST00000264193 NM_000097.5 120 Gag/Aag 0 -CPPED1 UCSF GRCh37 16 12798798 12798798 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 57 103 0 ENST00000381774.4:c.398C>T p.Thr133Ile p.T133I ENST00000381774 NM_018340.2 133 aCc/aTc 0 -CPS1 UCSF GRCh37 2 211465437 211465437 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 75 191 0 ENST00000430249.2:c.1725+1G>A p.X575_splice ENST00000430249 NM_001122633.2 0 -CPSF4 UCSF GRCh37 7 99051688 99051688 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 78 139 0 ENST00000292476.5:c.670G>A p.Val224Ile p.V224I ENST00000292476 224 Gtc/Atc 0 -CRAMP1L UCSF GRCh37 16 1706298 1706298 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 18 30 0 ENST00000397412.3:c.1540C>T p.Pro514Ser p.P514S ENST00000397412 514 Ccc/Tcc 0 -CRB2 UCSF GRCh37 9 126132611 126132611 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 31 80 0 ENST00000373631.3:c.1279C>T p.Pro427Ser p.P427S ENST00000373631 NM_173689.5 427 Cca/Tca 0 -CREB3 UCSF GRCh37 9 35736396 35736396 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 95 127 0 ENST00000353704.2:c.789C>T p.Ser263= p.S263= ENST00000353704 NM_006368.4 263 tcC/tcT 0 -CREB3L4 UCSF GRCh37 1 153941022 153941022 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 58 105 0 ENST00000368607.3:c.21C>T p.Asp7= p.D7= ENST00000368607 NM_001255980.1 7 gaC/gaT 0 -CRISPLD1 UCSF GRCh37 8 75941713 75941713 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 34 119 0 ENST00000262207.4:c.1412C>T p.Thr471Ile p.T471I ENST00000262207 NM_031461.5 471 aCc/aTc 0 -CRTAM UCSF GRCh37 11 122726526 122726526 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 45 173 0 ENST00000227348.4:c.614G>A p.Gly205Glu p.G205E ENST00000227348 NM_019604.2 205 gGg/gAg 0 -CRTC2 UCSF GRCh37 1 153923901 153923901 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 19 35 0 ENST00000368633.1:c.1239C>T p.Ala413= p.A413= ENST00000368633 NM_181715.2 413 gcC/gcT 0 -CRTC3 UCSF GRCh37 15 91162994 91162994 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 37 116 0 ENST00000268184.6:c.721C>T p.Pro241Ser p.P241S ENST00000268184 241 Cct/Tct 0 -CRYM UCSF GRCh37 16 21286866 21286866 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 42 78 1 ENST00000219599.3:c.374C>T p.Ala125Val p.A125V ENST00000219599 NM_001888.3 125 gCc/gTc 0 -CRYZL1 UCSF GRCh37 21 34989027 34989027 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 64 134 0 ENST00000381554.3:c.247G>A p.Asp83Asn p.D83N ENST00000381554 NM_145858.2 83 Gat/Aat 0 -CSF1 UCSF GRCh37 1 110456983 110456983 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 40 83 0 ENST00000329608.6:c.142C>T p.Leu48= p.L48= ENST00000329608 NM_000757.5 48 Ctg/Ttg 0 -CSF3R UCSF GRCh37 1 36941258 36941258 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 25 65 0 ENST00000361632.4:c.81G>A p.Gly27= p.G27= ENST00000361632 27 ggG/ggA 0 -CSMD1 UCSF GRCh37 8 3566007 3566008 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 0 ENST00000537824.1:c.938dup p.Ala314GlyfsTer3 p.A314Gfs*3 ENST00000537824 NM_033225.5 313 aag/aAag 0 -CSMD2 UCSF GRCh37 1 34164377 34164377 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 72 129 0 ENST00000241312.4:c.3781G>A p.Asp1261Asn p.D1261N ENST00000241312 1261 Gac/Aac 0 -CSMD3 UCSF GRCh37 8 113275893 113275893 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 173 50 110 0 ENST00000297405.5:c.9837G>A p.Trp3279Ter p.W3279* ENST00000297405 NM_198123.1 3279 tgG/tgA 0 -CSNK1G1 UCSF GRCh37 15 64472608 64472608 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 51 102 0 ENST00000303052.7:c.1153G>A p.Gly385Arg p.G385R ENST00000303052 NM_022048.3 385 Gga/Aga 0 -CSPG4 UCSF GRCh37 15 75968078 75968078 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 50 81 0 ENST00000308508.5:c.6782C>T p.Thr2261Ile p.T2261I ENST00000308508 NM_001897.4 2261 aCt/aTt 0 -CST1 UCSF GRCh37 20 23731336 23731336 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 54 108 0 ENST00000304749.2:c.168C>T p.Asn56= p.N56= ENST00000304749 NM_001898.2 56 aaC/aaT 0 -CSTF3 UCSF GRCh37 11 33118465 33118465 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 58 154 0 ENST00000323959.4:c.1188G>A p.Met396Ile p.M396I ENST00000323959 NM_001326.2 396 atG/atA 0 -CTAG2 UCSF GRCh37 X 153880590 153880590 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 63 102 0 ENST00000247306.4:c.585G>A p.Gly195= p.G195= ENST00000247306 NM_020994.3 195 ggG/ggA 0 -CTAGE1 UCSF GRCh37 18 19996271 19996271 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 132 89 199 0 ENST00000391403.2:c.1504G>A p.Ala502Thr p.A502T ENST00000391403 NM_172241.2 502 Gct/Act 0 -CTAGE6P UCSF GRCh37 7 143453428 143453428 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 165 79 316 0 ENST00000470691.2:c.1324G>A p.Glu442Lys p.E442K ENST00000470691 NM_178561.4 442 Gaa/Aaa 0 -CTBP2 UCSF GRCh37 10 126716248 126716248 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 36 48 0 ENST00000309035.6:c.81G>A p.Glu27= p.E27= ENST00000309035 NM_022802.2 27 gaG/gaA 0 -CTC1 UCSF GRCh37 17 8138531 8138531 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 52 85 0 ENST00000315684.8:c.1279G>A p.Gly427Ser p.G427S ENST00000315684 NM_025099.5 427 Ggc/Agc 0 -CTNNA3 UCSF GRCh37 10 68940213 68940213 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 79 71 182 0 ENST00000433211.2:c.909C>T p.Arg303= p.R303= ENST00000433211 NM_013266.2 303 cgC/cgT 0 -CTPS2 UCSF GRCh37 X 16638419 16638419 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 85 203 0 ENST00000443824.1:c.1430G>A p.Arg477Lys p.R477K ENST00000443824 NM_001144002.1 477 aGa/aAa 0 -CTSC UCSF GRCh37 11 88042421 88042421 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 34 121 0 ENST00000227266.5:c.551C>T p.Ser184Phe p.S184F ENST00000227266 NM_001814.4 184 tCt/tTt 0 -CTTNBP2 UCSF GRCh37 7 117364699 117364699 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 69 74 142 0 ENST00000160373.3:c.4349G>A p.Gly1450Glu p.G1450E ENST00000160373 NM_033427.2 1450 gGa/gAa 0 -CTTNBP2NL UCSF GRCh37 1 112999829 112999829 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 90 169 0 ENST00000271277.6:c.1715C>T p.Pro572Leu p.P572L ENST00000271277 NM_018704.2 572 cCc/cTc 0 -CTU2 UCSF GRCh37 16 88780121 88780121 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 73 108 0 ENST00000453996.2:c.940G>A p.Glu314Lys p.E314K ENST00000453996 NM_001012759.1 314 Gag/Aag 0 -CUBN UCSF GRCh37 10 17032352 17032352 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 197 65 178 0 ENST00000377833.4:c.4331G>A p.Cys1444Tyr p.C1444Y ENST00000377833 NM_001081.3 1444 tGc/tAc 0 -CUL2 UCSF GRCh37 10 35299354 35299354 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 53 111 0 ENST00000537177.1:c.2180G>A p.Arg727Lys p.R727K ENST00000537177 NM_001198779.1 727 aGa/aAa 0 -CUL7 UCSF GRCh37 6 43017703 43017703 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 75 204 0 ENST00000535468.1:c.1819G>A p.Glu607Lys p.E607K ENST00000535468 NM_014780.4 607 Gag/Aag 0 -CUL7 UCSF GRCh37 6 43013324 43013324 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 46 73 0 ENST00000535468.1:c.3114+1G>A p.X1038_splice ENST00000535468 NM_014780.4 0 -CUL9 UCSF GRCh37 6 43156415 43156415 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 54 97 0 ENST00000252050.4:c.2142G>A p.Glu714= p.E714= ENST00000252050 NM_015089.2 714 gaG/gaA 0 -CUX1 UCSF GRCh37 7 101882782 101882782 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 60 144 0 ENST00000360264.3:c.3838C>T p.Pro1280Ser p.P1280S ENST00000360264 NM_001202543.1 1280 Ccg/Tcg 0 -CUX2 UCSF GRCh37 12 111760369 111760369 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 10 25 0 ENST00000261726.6:c.2911C>T p.Pro971Ser p.P971S ENST00000261726 NM_015267.3 971 Cct/Tct 0 -CXCL1 UCSF GRCh37 4 74735288 74735288 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 32 58 0 ENST00000395761.3:c.100+1G>A p.X34_splice ENST00000395761 NM_001511.3 0 -CXCR5 UCSF GRCh37 11 118764684 118764684 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 50 80 0 ENST00000292174.4:c.431C>T p.Ala144Val p.A144V ENST00000292174 NM_001716.4 144 gCc/gTc 0 -CXXC1 UCSF GRCh37 18 47812480 47812480 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 68 126 0 ENST00000412036.2:c.371C>T p.Ser124Leu p.S124L ENST00000412036 124 tCa/tTa 0 -CYB561 UCSF GRCh37 17 61511818 61511818 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 16 25 0 ENST00000392976.1:c.701C>T p.Ala234Val p.A234V ENST00000392976 NM_001017916.1 234 gCc/gTc 0 -CYB5D1 UCSF GRCh37 17 7761957 7761957 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 54 108 0 ENST00000332439.4:c.271C>T p.Leu91= p.L91= ENST00000332439 NM_144607.4 91 Ctg/Ttg 0 -CYBASC3 UCSF GRCh37 11 61121326 61121326 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 42 74 0 ENST00000426130.2:c.374G>A p.Gly125Glu p.G125E ENST00000426130 NM_001161454.1 125 gGa/gAa 0 -CYFIP1 UCSF GRCh37 15 22993045 22993045 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 18 58 0 ENST00000313077.7:c.2932C>T p.His978Tyr p.H978Y ENST00000313077 NM_014608.2 978 Cac/Tac 0 -ZFTRAF1 UCSF GRCh37 8 145676143 145676143 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 8 16 0 ENST00000438911.2:c.708C>T p.Phe236= p.F236= ENST00000438911 NM_138496.1 236 ttC/ttT 0 -CYP1A2 UCSF GRCh37 15 75042111 75042111 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 101 205 0 ENST00000343932.4:c.32C>T p.Ala11Val p.A11V ENST00000343932 NM_000761.3 11 gCc/gTc 0 -CYP1A2 UCSF GRCh37 15 75042559 75042559 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 95 174 0 ENST00000343932.4:c.480C>T p.Tyr160= p.Y160= ENST00000343932 NM_000761.3 160 taC/taT 0 -CYP27C1 UCSF GRCh37 2 127961147 127961147 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 70 139 0 ENST00000335247.7:c.-22G>A p.X8_splice ENST00000335247 NM_001001665.3 0 -CYP2C19 UCSF GRCh37 10 96540357 96540357 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 89 229 0 ENST00000371321.3:c.583C>T p.Leu195Phe p.L195F ENST00000371321 NM_000769.1 195 Ctt/Ttt 0 -CYP2J2 UCSF GRCh37 1 60366771 60366771 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 46 127 0 ENST00000371204.3:c.1196C>T p.Thr399Ile p.T399I ENST00000371204 NM_000775.2 399 aCc/aTc 0 -CYP2S1 UCSF GRCh37 19 41703712 41703712 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 31 84 0 ENST00000310054.4:c.372G>A p.Trp124Ter p.W124* ENST00000310054 NM_030622.6 124 tgG/tgA 0 -CYP4F22 UCSF GRCh37 19 15636309 15636309 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 27 49 0 ENST00000269703.3:c.162C>T p.Arg54= p.R54= ENST00000269703 NM_173483.3 54 cgC/cgT 0 -CYTH1 UCSF GRCh37 17 76696430 76696430 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 22 51 0 ENST00000361101.4:c.533G>A p.Gly178Asp p.G178D ENST00000361101 NM_017456.2 178 gGc/gAc 0 -DAAM1 UCSF GRCh37 14 59821883 59821883 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 62 168 0 ENST00000395125.1:c.2387C>T p.Ala796Val p.A796V ENST00000395125 NM_014992.2 796 gCa/gTa 0 -DAB2 UCSF GRCh37 5 39382822 39382822 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 68 159 0 ENST00000320816.6:c.1239G>A p.Lys413= p.K413= ENST00000320816 NM_001343.3 413 aaG/aaA 0 -DACT1 UCSF GRCh37 14 59113147 59113147 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 20 29 0 ENST00000335867.4:c.1806G>A p.Arg602= p.R602= ENST00000335867 602 agG/agA 0 -DAGLA UCSF GRCh37 11 61505189 61505189 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 39 82 0 ENST00000257215.5:c.1545C>T p.Phe515= p.F515= ENST00000257215 NM_006133.2 515 ttC/ttT 0 -DAK UCSF GRCh37 11 61105600 61105600 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 42 61 0 ENST00000394900.3:c.191C>T p.Ala64Val p.A64V ENST00000394900 NM_015533.3 64 gCt/gTt 0 -DALRD3 UCSF GRCh37 3 49053920 49053920 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 1 41 86 0 ENST00000341949.4:c.1088G>A p.Gly363Asp p.G363D ENST00000341949 NM_001009996.2 363 gGt/gAt 0 -DAP3 UCSF GRCh37 1 155686916 155686916 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 87 187 1 ENST00000368336.5:c.165C>T p.Asp55= p.D55= ENST00000368336 NM_004632.3 55 gaC/gaT 0 -DAXX UCSF GRCh37 6 33289341 33289341 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 83 83 180 0 ENST00000374542.5:c.211C>T p.Leu71Phe p.L71F ENST00000374542 NM_001141970.1 71 Ctt/Ttt 0 -DBC1 UCSF GRCh37 9 122075558 122075558 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 53 119 0 ENST00000265922.3:c.76G>A p.Glu26Lys p.E26K ENST00000265922 NM_014618.2 26 Gaa/Aaa 0 -DCAF4L1 UCSF GRCh37 4 41984755 41984755 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 75 149 0 ENST00000333141.5:c.946G>A p.Ala316Thr p.A316T ENST00000333141 NM_001029955.3 316 Gcc/Acc 0 -DCBLD2 UCSF GRCh37 3 98538238 98538238 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 58 158 0 ENST00000326840.6:c.895G>A p.Glu299Lys p.E299K ENST00000326840 NM_080927.3 299 Gag/Aag 0 -DCC UCSF GRCh37 18 50985745 50985745 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 99 211 0 ENST00000442544.2:c.3536C>T p.Pro1179Leu p.P1179L ENST00000442544 NM_005215.3 1179 cCc/cTc 0 -DCHS1 UCSF GRCh37 11 6662142 6662143 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P10_Rec Untested WXS Illumina HiSeq 8 0 ENST00000299441.3:c.703dup p.Arg235ProfsTer16 p.R235Pfs*16 ENST00000299441 NM_003737.2 234 -/C 0 -DCHS2 UCSF GRCh37 4 155156320 155156320 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 69 157 0 ENST00000357232.4:c.8119C>T p.Gln2707Ter p.Q2707* ENST00000357232 NM_017639.3 2707 Caa/Taa 0 -DCN UCSF GRCh37 12 91572319 91572319 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 77 137 0 ENST00000052754.5:c.11C>T p.Thr4Ile p.T4I ENST00000052754 NM_001920.3 4 aCt/aTt 0 -DCP1B UCSF GRCh37 12 2055379 2055379 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 44 111 0 ENST00000280665.6:c.1847C>T p.Thr616Ile p.T616I ENST00000280665 NM_152640.3 616 aCt/aTt 0 -DDAH1 UCSF GRCh37 1 85816190 85816190 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 94 213 0 ENST00000284031.8:c.505G>A p.Ala169Thr p.A169T ENST00000284031 NM_012137.3 169 Gca/Aca 0 -DDB2 UCSF GRCh37 11 47256340 47256340 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 67 122 0 ENST00000256996.4:c.735G>A p.Val245= p.V245= ENST00000256996 NM_000107.2 245 gtG/gtA 0 -DDR1 UCSF GRCh37 6 30862416 30862416 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 57 141 0 ENST00000376575.3:c.1481C>T p.Pro494Leu p.P494L ENST00000376575 494 cCc/cTc 0 -DDR1 UCSF GRCh37 6 30860850 30860850 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 39 80 0 ENST00000376575.3:c.1105G>A p.Val369Met p.V369M ENST00000376575 369 Gtg/Atg 0 -DDX11 UCSF GRCh37 12 31256518 31256518 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 62 78 0 ENST00000407793.2:c.2539C>T p.His847Tyr p.H847Y ENST00000407793 NM_030653.3 847 Cat/Tat 0 -DDX11 UCSF GRCh37 12 31250914 31250914 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 114 18 131 0 ENST00000407793.2:c.1858G>A p.Gly620Arg p.G620R ENST00000407793 NM_030653.3 620 Ggg/Agg 0 -DDX23 UCSF GRCh37 12 49230351 49230351 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 72 118 0 ENST00000308025.3:c.1236+1G>A p.X412_splice ENST00000308025 NM_004818.2 0 -DDX27 UCSF GRCh37 20 47836064 47836064 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 27 49 0 ENST00000371764.4:c.172G>A p.Asp58Asn p.D58N ENST00000371764 NM_017895.7 58 Gac/Aac 0 -DDX4 UCSF GRCh37 5 55063757 55063757 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 57 144 0 ENST00000505374.1:c.383C>T p.Ser128Phe p.S128F ENST00000505374 NM_024415.2 128 tCc/tTc 0 -DDX53 UCSF GRCh37 X 23018198 23018198 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 18 46 0 ENST00000327968.5:c.24G>A p.Trp8Ter p.W8* ENST00000327968 NM_182699.3 8 tgG/tgA 0 -DDX59 UCSF GRCh37 1 200635267 200635267 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 133 92 208 0 ENST00000331314.6:c.602C>T p.Pro201Leu p.P201L ENST00000331314 NM_001031725.4 201 cCc/cTc 0 -DDX6 UCSF GRCh37 11 118656891 118656891 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 136 119 231 0 ENST00000264018.4:c.70C>T p.Pro24Ser p.P24S ENST00000264018 NM_004397.4 24 Cct/Tct 0 -DECR1 UCSF GRCh37 8 91054975 91054975 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 279 80 194 0 ENST00000220764.2:c.685G>A p.Gly229Ser p.G229S ENST00000220764 NM_001359.1 229 Ggt/Agt 0 -DEFB132 UCSF GRCh37 20 239761 239761 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 74 124 0 ENST00000382376.3:c.102C>T p.Tyr34= p.Y34= ENST00000382376 NM_207469.2 34 taC/taT 0 -DENND1B UCSF GRCh37 1 197510100 197510100 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 114 102 223 0 ENST00000391979.2:c.316C>T p.Leu106= p.L106= ENST00000391979 NM_001195215.1 106 Cta/Tta 0 -DENND2D UCSF GRCh37 1 111731408 111731408 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 81 128 0 ENST00000357640.4:c.1015G>A p.Val339Ile p.V339I ENST00000357640 NM_024901.4 339 Gtt/Att 0 -DEPDC5 UCSF GRCh37 22 32302255 32302255 + synonymous_variant Silent SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 3 68 96 0 ENST00000382112.3:c.4557G>A p.Arg1519= p.R1519= ENST00000382112 NM_001136029.2 1519 cgG/cgA 0 -DEPDC5 UCSF GRCh37 22 32179972 32179972 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 80 181 0 ENST00000382112.3:c.562+1G>A p.X188_splice ENST00000382112 NM_001136029.2 0 -DES UCSF GRCh37 2 220286152 220286152 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 62 108 0 ENST00000373960.3:c.1114G>A p.Glu372Lys p.E372K ENST00000373960 NM_001927.3 372 Gag/Aag 0 -DET1 UCSF GRCh37 15 89074632 89074632 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 114 194 0 ENST00000564406.1:c.338G>A p.Gly113Glu p.G113E ENST00000564406 NM_017996.3 113 gGa/gAa 0 -DFNA5 UCSF GRCh37 7 24745895 24745895 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 37 69 0 ENST00000342947.3:c.1091G>A p.Gly364Glu p.G364E ENST00000342947 NM_004403.2 364 gGg/gAg 0 -DFNA5 UCSF GRCh37 7 24738789 24738789 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 43 96 0 ENST00000342947.3:c.1347G>A p.Gln449= p.Q449= ENST00000342947 NM_004403.2 449 caG/caA 0 -DFNB31 UCSF GRCh37 9 117170265 117170265 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 12 22 0 ENST00000362057.3:c.1660G>A p.Val554Ile p.V554I ENST00000362057 NM_001173425.1 554 Gtc/Atc 0 -DGCR14 UCSF GRCh37 22 19124860 19124860 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 131 78 156 0 ENST00000252137.6:c.1011C>T p.Asp337= p.D337= ENST00000252137 NM_022719.2 337 gaC/gaT 0 -DGCR8 UCSF GRCh37 22 20073698 20073698 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 63 116 1 ENST00000351989.3:c.212G>A p.Gly71Glu p.G71E ENST00000351989 NM_022720.6 71 gGa/gAa 0 -DHDDS UCSF GRCh37 1 26795537 26795537 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 64 115 0 ENST00000360009.2:c.920G>A p.Arg307Gln p.R307Q ENST00000360009 NM_024887.3 307 cGg/cAg 0 -DHDH UCSF GRCh37 19 49442716 49442716 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 80 182 0 ENST00000221403.2:c.377C>T p.Thr126Ile p.T126I ENST00000221403 NM_014475.3 126 aCc/aTc 0 -DHRS12 UCSF GRCh37 13 52373669 52373669 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 66 131 0 ENST00000444610.2:c.190+1G>A p.X64_splice ENST00000444610 NM_001270424.1 0 -DHX29 UCSF GRCh37 5 54579056 54579056 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 41 101 0 ENST00000251636.5:c.1940G>A p.Gly647Asp p.G647D ENST00000251636 NM_019030.2 647 gGc/gAc 0 -DIDO1 UCSF GRCh37 20 61513186 61513186 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 77 162 0 ENST00000266070.4:c.4122G>A p.Lys1374= p.K1374= ENST00000266070 NM_033081.2 1374 aaG/aaA 0 -DIO3 UCSF GRCh37 14 102028251 102028251 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 50 74 0 ENST00000510508.4:c.418G>A p.Val140Met p.V140M ENST00000510508 140 Gtg/Atg 0 -DIP2C UCSF GRCh37 10 323417 323417 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 119 52 114 0 ENST00000280886.6:c.4519C>T p.Leu1507= p.L1507= ENST00000280886 NM_014974.2 1507 Ctg/Ttg 0 -DLD UCSF GRCh37 7 107555952 107555952 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 55 127 0 ENST00000205402.5:c.686G>A p.Gly229Asp p.G229D ENST00000205402 NM_000108.3 229 gGt/gAt 0 -DLEC1 UCSF GRCh37 3 38126876 38126876 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 54 154 0 ENST00000308059.6:c.1373C>T p.Thr458Ile p.T458I ENST00000308059 458 aCc/aTc 0 -DLG4 UCSF GRCh37 17 7122158 7122158 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 27 92 0 ENST00000399510.2:c.11G>A p.Arg4Lys p.R4K ENST00000399510 NM_001365.3 4 aGa/aAa 0 -DLG5 UCSF GRCh37 10 79567601 79567601 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 59 112 0 ENST00000372391.2:c.4749G>A p.Glu1583= p.E1583= ENST00000372391 NM_004747.3 1583 gaG/gaA 0 -DLL3 UCSF GRCh37 19 39998575 39998575 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 38 104 0 ENST00000205143.4:c.1779C>T p.Pro593= p.P593= ENST00000205143 NM_016941.3 593 ccC/ccT 0 -DMGDH UCSF GRCh37 5 78326661 78326661 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 42 88 0 ENST00000255189.3:c.1678C>T p.Pro560Ser p.P560S ENST00000255189 NM_013391.3 560 Cca/Tca 0 -DMRTA2 UCSF GRCh37 1 50885107 50885107 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 38 57 1 ENST00000404795.3:c.859G>A p.Glu287Lys p.E287K ENST00000404795 NM_032110.2 287 Gaa/Aaa 0 -DMXL2 UCSF GRCh37 15 51772750 51772750 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 116 89 181 0 ENST00000543779.2:c.6553G>A p.Glu2185Lys p.E2185K ENST00000543779 2185 Gaa/Aaa 0 -DMXL2 UCSF GRCh37 15 51860709 51860709 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 24 62 0 ENST00000543779.2:c.260G>A p.Gly87Asp p.G87D ENST00000543779 87 gGc/gAc 0 -DNAH10 UCSF GRCh37 12 124408889 124408889 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 82 151 0 ENST00000409039.3:c.11322G>A p.Trp3774Ter p.W3774* ENST00000409039 NM_207437.3 3774 tgG/tgA 0 -DNAH17 UCSF GRCh37 17 76420176 76420176 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 48 112 0 ENST00000389840.5:c.13269C>T p.Thr4423= p.T4423= ENST00000389840 4423 acC/acT 0 -DNAH17 UCSF GRCh37 17 76488815 76488815 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 52 129 0 ENST00000389840.5:c.6399C>T p.Asn2133= p.N2133= ENST00000389840 2133 aaC/aaT 0 -DNAH2 UCSF GRCh37 17 7700504 7700504 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 67 173 0 ENST00000572933.1:c.7874G>A p.Gly2625Asp p.G2625D ENST00000572933 2625 gGc/gAc 0 -DNAH5 UCSF GRCh37 5 13814842 13814842 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 59 149 0 ENST00000265104.4:c.7102C>T p.Pro2368Ser p.P2368S ENST00000265104 NM_001369.2 2368 Ccc/Tcc 0 -DNAH5 UCSF GRCh37 5 13714642 13714642 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 41 101 0 ENST00000265104.4:c.12997C>T p.Leu4333= p.L4333= ENST00000265104 NM_001369.2 4333 Ctg/Ttg 0 -DNAH7 UCSF GRCh37 2 196852860 196852860 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 55 151 0 ENST00000312428.6:c.1447G>A p.Glu483Lys p.E483K ENST00000312428 NM_018897.2 483 Gag/Aag 0 -DNAH7 UCSF GRCh37 2 196726495 196726495 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 48 139 0 ENST00000312428.6:c.7682C>T p.Thr2561Ile p.T2561I ENST00000312428 NM_018897.2 2561 aCc/aTc 0 -DNAH8 UCSF GRCh37 6 38994423 38994423 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 56 113 0 ENST00000359357.3:c.13165G>A p.Glu4389Lys p.E4389K ENST00000359357 4389 Gag/Aag 0 -DNAI1 UCSF GRCh37 9 34491538 34491538 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 39 51 103 0 ENST00000242317.4:c.667G>A p.Ala223Thr p.A223T ENST00000242317 NM_012144.3 223 Gcc/Acc 0 -DNAJC16 UCSF GRCh37 1 15855742 15855742 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 73 157 1 ENST00000375847.3:c.142G>A p.Ala48Thr p.A48T ENST00000375847 NM_015291.2 48 Gct/Act 0 -DNAJC17 UCSF GRCh37 15 41071767 41071767 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 44 76 0 ENST00000220496.4:c.183G>A p.Glu61= p.E61= ENST00000220496 NM_018163.2 61 gaG/gaA 0 -DNAJC19 UCSF GRCh37 3 180705975 180705975 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 66 177 1 ENST00000382564.2:c.46G>A p.Gly16Arg p.G16R ENST00000382564 NM_145261.3 16 Gga/Aga 0 -DNHD1 UCSF GRCh37 11 6524079 6524079 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 74 130 0 ENST00000254579.6:c.843G>A p.Met281Ile p.M281I ENST00000254579 NM_144666.2 281 atG/atA 0 -DNMT3A UCSF GRCh37 2 25458593 25458593 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 58 63 127 0 ENST00000264709.3:c.2580G>A p.Trp860Ter p.W860* ENST00000264709 NM_175629.2 860 tgG/tgA 0 -DNMT3A UCSF GRCh37 2 25470532 25470532 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 43 43 87 0 ENST00000264709.3:c.942G>A p.Trp314Ter p.W314* ENST00000264709 NM_175629.2 314 tgG/tgA 0 -DNMT3L UCSF GRCh37 21 45668988 45668988 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 13 27 0 ENST00000270172.3:c.916C>T p.Pro306Ser p.P306S ENST00000270172 NM_013369.3 306 Cca/Tca 0 -DOC2A UCSF GRCh37 16 30017765 30017765 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 72 135 0 ENST00000350119.4:c.1026C>T p.Asp342= p.D342= ENST00000350119 NM_003586.2 342 gaC/gaT 0 -DOCK10 UCSF GRCh37 2 225781483 225781483 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 63 133 0 ENST00000258390.7:c.262G>A p.Asp88Asn p.D88N ENST00000258390 NM_014689.2 88 Gat/Aat 0 -DOCK3 UCSF GRCh37 3 51378721 51378721 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 42 77 0 ENST00000266037.9:c.3820C>T p.Pro1274Ser p.P1274S ENST00000266037 NM_004947.4 1274 Cca/Tca 0 -DOCK7 UCSF GRCh37 1 62962166 62962166 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 42 129 0 ENST00000340370.5:c.4674C>T p.Asn1558= p.N1558= ENST00000340370 NM_033407.3 1558 aaC/aaT 0 -DOK2 UCSF GRCh37 8 21771109 21771109 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 56 145 0 ENST00000276420.4:c.4G>A p.Gly2Arg p.G2R ENST00000276420 NM_003974.2 2 Gga/Aga 0 -DOK7 UCSF GRCh37 4 3494641 3494641 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 16 12 0 ENST00000340083.5:c.928G>A p.Ala310Thr p.A310T ENST00000340083 NM_173660.4 310 Gcc/Acc 0 -DOLK UCSF GRCh37 9 131708637 131708637 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 197 84 168 0 ENST00000372586.3:c.946C>T p.Leu316= p.L316= ENST00000372586 NM_014908.3 316 Ctg/Ttg 0 -DOPEY1 UCSF GRCh37 6 83848015 83848015 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0014 P10_Rec Untested WXS Illumina HiSeq 110 110 266 0 ENST00000349129.2:c.4254C>T p.Leu1418= p.L1418= ENST00000349129 NM_015018.3 1418 ctC/ctT 0 -DOPEY2 UCSF GRCh37 21 37612210 37612210 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 15 23 0 ENST00000399151.3:c.3024C>T p.Thr1008= p.T1008= ENST00000399151 NM_005128.2 1008 acC/acT 0 -DPCD UCSF GRCh37 10 103368682 103368682 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 68 160 0 ENST00000370151.4:c.495C>T p.Thr165= p.T165= ENST00000370151 NM_015448.1 165 acC/acT 0 -DPF1 UCSF GRCh37 19 38714783 38714783 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 11 8 0 ENST00000355526.4:c.81G>A p.Lys27= p.K27= ENST00000355526 NM_001135155.1 27 aaG/aaA 0 -DPF1 UCSF GRCh37 19 38713076 38713076 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 62 106 0 ENST00000355526.4:c.300C>T p.Tyr100= p.Y100= ENST00000355526 NM_001135155.1 100 taC/taT 0 -DPF2 UCSF GRCh37 11 65113205 65113205 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 62 115 0 ENST00000528416.1:c.706G>A p.Glu236Lys p.E236K ENST00000528416 NM_006268.4 236 Gag/Aag 0 -DPH2 UCSF GRCh37 1 44438150 44438150 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 53 99 0 ENST00000255108.3:c.1409C>T p.Thr470Ile p.T470I ENST00000255108 NM_001384.4 470 aCa/aTa 0 -DPH5 UCSF GRCh37 1 101479318 101479318 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 78 178 0 ENST00000370109.3:c.317G>A p.Arg106Lys p.R106K ENST00000370109 NM_001077395.1 106 aGa/aAa 0 -DPYSL2 UCSF GRCh37 8 26513222 26513222 + stop_retained_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 49 87 0 ENST00000311151.5:c.1719G>A p.Ter573= p.*573= ENST00000311151 NM_001386.5 573 taG/taA 0 -DRD1 UCSF GRCh37 5 174869048 174869048 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 83 153 0 ENST00000393752.2:c.1055C>T p.Pro352Leu p.P352L ENST00000393752 NM_000794.3 352 cCt/cTt 0 -DRD3 UCSF GRCh37 3 113847651 113847651 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 115 117 218 0 ENST00000383673.2:c.1115G>A p.Gly372Asp p.G372D ENST00000383673 NM_000796.3 372 gGc/gAc 0 -DSC3 UCSF GRCh37 18 28611002 28611002 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 33 116 0 ENST00000360428.4:c.291G>A p.Trp97Ter p.W97* ENST00000360428 NM_001941.3 97 tgG/tgA 0 -DSCAM UCSF GRCh37 21 41385166 41385166 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 48 88 0 ENST00000400454.1:c.5834C>T p.Pro1945Leu p.P1945L ENST00000400454 NM_001271534.1 1945 cCc/cTc 0 -DSCAM UCSF GRCh37 21 41452089 41452089 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 44 147 0 ENST00000400454.1:c.4410C>T p.Thr1470= p.T1470= ENST00000400454 NM_001271534.1 1470 acC/acT 0 -DSCAML1 UCSF GRCh37 11 117303857 117303857 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 26 49 0 ENST00000321322.6:c.5203C>T p.Leu1735= p.L1735= ENST00000321322 NM_020693.2 1735 Ctg/Ttg 0 -DSE UCSF GRCh37 6 116757597 116757597 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 92 181 0 ENST00000331677.3:c.1966C>T p.Pro656Ser p.P656S ENST00000331677 656 Ccc/Tcc 0 -DSEL UCSF GRCh37 18 65179666 65179666 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 58 145 0 ENST00000310045.7:c.2210G>A p.Arg737Lys p.R737K ENST00000310045 NM_032160.2 737 aGa/aAa 0 -DST UCSF GRCh37 6 56380398 56380398 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 92 146 0 ENST00000244364.6:c.10557G>A p.Gln3519= p.Q3519= ENST00000244364 NM_015548.4 3519 caG/caA 0 -DUOX2 UCSF GRCh37 15 45401797 45401797 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 49 145 0 ENST00000603300.1:c.1159G>A p.Val387Met p.V387M ENST00000603300 NM_014080.4 387 Gtg/Atg 0 -DUOX2 UCSF GRCh37 15 45392393 45392393 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 40 103 0 ENST00000603300.1:c.3039G>A p.Glu1013= p.E1013= ENST00000603300 NM_014080.4 1013 gaG/gaA 0 -DUPD1 UCSF GRCh37 10 76818240 76818240 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 44 104 0 ENST00000338487.5:c.33G>A p.Lys11= p.K11= ENST00000338487 NM_001003892.1 11 aaG/aaA 0 -DUSP11 UCSF GRCh37 2 74007117 74007117 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 51 86 0 ENST00000272444.3:c.126G>A p.Arg42= p.R42= ENST00000272444 NM_003584.2 42 cgG/cgA 0 -DYNC1I1 UCSF GRCh37 7 95705396 95705396 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 61 136 0 ENST00000324972.6:c.1588G>A p.Asp530Asn p.D530N ENST00000324972 NM_004411.4 530 Gac/Aac 0 -DYNC2H1 UCSF GRCh37 11 103006301 103006301 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 32 106 0 ENST00000398093.3:c.2283C>T p.Tyr761= p.Y761= ENST00000398093 761 taC/taT 0 -DYRK1A UCSF GRCh37 21 38877737 38877737 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 103 217 0 ENST00000398960.2:c.1391C>T p.Pro464Leu p.P464L ENST00000398960 NM_001396.3 464 cCc/cTc 0 -DYRK1A UCSF GRCh37 21 38884582 38884582 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 76 181 0 ENST00000398960.2:c.2040C>T p.Tyr680= p.Y680= ENST00000398960 NM_001396.3 680 taC/taT 0 -DYSF UCSF GRCh37 2 71891506 71891506 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 44 81 0 ENST00000410020.3:c.5112C>T p.Asp1704= p.D1704= ENST00000410020 NM_001130987.1 1704 gaC/gaT 0 -DYTN UCSF GRCh37 2 207557959 207557959 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 79 167 0 ENST00000452335.2:c.920G>A p.Arg307Lys p.R307K ENST00000452335 NM_001093730.1 307 aGa/aAa 0 -DZIP3 UCSF GRCh37 3 108335494 108335494 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 63 159 0 ENST00000361582.3:c.365G>A p.Gly122Asp p.G122D ENST00000361582 NM_014648.3 122 gGc/gAc 0 -E2F5 UCSF GRCh37 8 86119660 86119660 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 27 91 0 ENST00000416274.2:c.551G>A p.Gly184Asp p.G184D ENST00000416274 NM_001083588.1 184 gGt/gAt 0 -ECE1 UCSF GRCh37 1 21582624 21582624 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 34 86 0 ENST00000374893.6:c.836C>T p.Thr279Ile p.T279I ENST00000374893 NM_001397.2 279 aCc/aTc 0 -ECE1 UCSF GRCh37 1 21599352 21599352 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 49 87 0 ENST00000374893.6:c.333C>T p.Ile111= p.I111= ENST00000374893 NM_001397.2 111 atC/atT 0 -ECHDC1 UCSF GRCh37 6 127611073 127611073 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 104 111 237 0 ENST00000531967.1:c.865G>A p.Val289Ile p.V289I ENST00000531967 NM_001139510.1 289 Gtt/Att 0 -ECM2 UCSF GRCh37 9 95277190 95277190 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 150 60 131 0 ENST00000344604.5:c.777G>A p.Arg259= p.R259= ENST00000344604 NM_001393.3 259 agG/agA 0 -ECSCR UCSF GRCh37 5 138842242 138842242 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 8 14 0 ENST00000515823.1:c.14G>A p.Gly5Glu p.G5E ENST00000515823 NM_001077693.2 5 gGa/gAa 0 -EDF1 UCSF GRCh37 9 139760663 139760663 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 14 24 0 ENST00000224073.1:c.48C>T p.Gly16= p.G16= ENST00000224073 NM_001281298.1 16 ggC/ggT 0 -EDIL3 UCSF GRCh37 5 83356203 83356203 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 58 117 0 ENST00000296591.5:c.1053G>A p.Trp351Ter p.W351* ENST00000296591 NM_005711.4 351 tgG/tgA 0 -EDN3 UCSF GRCh37 20 57897444 57897445 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 0 ENST00000337938.2:c.565dup p.Thr189AsnfsTer10 p.T189Nfs*10 ENST00000337938 NM_207034.1 187 gaa/gaAa 0 -EEF1G UCSF GRCh37 11 62340136 62340136 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 83 181 0 ENST00000329251.4:c.91G>A p.Val31Met p.V31M ENST00000329251 NM_001404.4 31 Gtg/Atg 0 -EEPD1 UCSF GRCh37 7 36324420 36324420 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 55 98 0 ENST00000242108.4:c.1167G>A p.Gly389= p.G389= ENST00000242108 NM_030636.2 389 ggG/ggA 0 -EFHA1 UCSF GRCh37 13 22141047 22141047 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 2 37 94 0 ENST00000382374.4:c.247C>T p.Pro83Ser p.P83S ENST00000382374 NM_152726.2 83 Ccg/Tcg 0 -EFHC1 UCSF GRCh37 6 52317622 52317622 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 111 228 0 ENST00000371068.5:c.710C>T p.Thr237Ile p.T237I ENST00000371068 NM_018100.3 237 aCc/aTc 0 -EFNB3 UCSF GRCh37 17 7611322 7611322 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 53 111 0 ENST00000226091.2:c.169C>T p.Arg57Trp p.R57W ENST00000226091 NM_001406.3 57 Cgg/Tgg 0 -EFR3B UCSF GRCh37 2 25377127 25377127 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 56 108 0 ENST00000403714.3:c.2372C>T p.Thr791Ile p.T791I ENST00000403714 NM_014971.1 791 aCc/aTc 0 -EHD4 UCSF GRCh37 15 42201974 42201974 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 114 118 191 0 ENST00000220325.4:c.1012C>T p.Leu338= p.L338= ENST00000220325 NM_139265.3 338 Cta/Tta 0 -EHD4 UCSF GRCh37 15 42211800 42211800 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 40 66 0 ENST00000220325.4:c.532C>T p.Leu178= p.L178= ENST00000220325 NM_139265.3 178 Ctg/Ttg 0 -EID2B UCSF GRCh37 19 40023266 40023266 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 27 53 0 ENST00000326282.4:c.177G>A p.Arg59= p.R59= ENST00000326282 NM_152361.1 59 cgG/cgA 0 -EIF2B4 UCSF GRCh37 2 27591954 27591954 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 49 104 0 ENST00000451130.2:c.397G>A p.Ala133Thr p.A133T ENST00000451130 NM_172195.3 133 Gcc/Acc 0 -EIF2C2 UCSF GRCh37 8 141551327 141551327 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 87 18 41 0 ENST00000220592.5:c.1970C>T p.Thr657Met p.T657M ENST00000220592 NM_012154.3 657 aCg/aTg 0 -EIF2C2 UCSF GRCh37 8 141554325 141554325 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 355 89 149 0 ENST00000220592.5:c.1826C>T p.Pro609Leu p.P609L ENST00000220592 NM_012154.3 609 cCc/cTc 0 -EIF3H UCSF GRCh37 8 117671106 117671106 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 179 51 173 0 ENST00000521861.1:c.403G>A p.Asp135Asn p.D135N ENST00000521861 NM_003756.2 135 Gac/Aac 0 -EIF4G1 UCSF GRCh37 3 184039886 184039886 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 47 110 0 ENST00000424196.1:c.1535C>T p.Thr512Ile p.T512I ENST00000424196 512 aCt/aTt 0 -EIF5B UCSF GRCh37 2 99977841 99977841 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 105 198 0 ENST00000289371.6:c.477G>A p.Lys159= p.K159= ENST00000289371 NM_015904.3 159 aaG/aaA 0 -ELP3 UCSF GRCh37 8 27995380 27995380 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 43 97 0 ENST00000256398.8:c.1072C>T p.Pro358Ser p.P358S ENST00000256398 NM_018091.5 358 Cca/Tca 0 -EML5 UCSF GRCh37 14 89171891 89171891 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 82 77 140 0 ENST00000554922.1:c.1867C>T p.Leu623= p.L623= ENST00000554922 NM_183387.2 623 Ctg/Ttg 0 -ENDOV UCSF GRCh37 17 78389561 78389561 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 12 33 0 ENST00000518137.1:c.168G>A p.Val56= p.V56= ENST00000518137 NM_173627.3 56 gtG/gtA 0 -ENO1 UCSF GRCh37 1 8927255 8927255 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 67 174 0 ENST00000234590.4:c.365G>A p.Gly122Asp p.G122D ENST00000234590 NM_001428.3 122 gGt/gAt 0 -ENPEP UCSF GRCh37 4 111470765 111470765 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 109 81 176 0 ENST00000265162.5:c.2307G>A p.Glu769= p.E769= ENST00000265162 NM_001977.3 769 gaG/gaA 0 -EOMES UCSF GRCh37 3 27758589 27758589 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 91 192 0 ENST00000295743.4:c.2033G>A p.Gly678Glu p.G678E ENST00000295743 NM_005442.3 678 gGg/gAg 0 -EPAS1 UCSF GRCh37 2 46607851 46607851 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 57 132 0 ENST00000263734.3:c.2040G>A p.Lys680= p.K680= ENST00000263734 NM_001430.4 680 aaG/aaA 0 -EPB41L4B UCSF GRCh37 9 111965953 111965953 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 150 73 158 1 ENST00000374566.3:c.1936G>A p.Ala646Thr p.A646T ENST00000374566 NM_019114.3 646 Gct/Act 0 -EPC2 UCSF GRCh37 2 149402614 149402614 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 7 18 0 ENST00000258484.6:c.28G>A p.Ala10Thr p.A10T ENST00000258484 NM_015630.3 10 Gcg/Acg 0 -EPG5 UCSF GRCh37 18 43460146 43460146 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 47 80 0 ENST00000282041.5:c.5561C>T p.Thr1854Ile p.T1854I ENST00000282041 NM_020964.2 1854 aCt/aTt 0 -EPHA10 UCSF GRCh37 1 38184480 38184480 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 17 29 0 ENST00000373048.4:c.2765C>T p.Thr922Ile p.T922I ENST00000373048 NM_001099439.1 922 aCc/aTc 0 -EPHA10 UCSF GRCh37 1 38227159 38227159 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 7 77 0 ENST00000373048.4:c.768C>T p.Cys256= p.C256= ENST00000373048 NM_001099439.1 256 tgC/tgT 0 -EPHA4 UCSF GRCh37 2 222428779 222428779 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 85 189 0 ENST00000281821.2:c.495G>A p.Lys165= p.K165= ENST00000281821 NM_004438.3 165 aaG/aaA 0 -EPHA6 UCSF GRCh37 3 96945264 96945264 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 109 201 0 ENST00000389672.5:c.1270+1G>A p.X424_splice ENST00000389672 NM_001080448.2 0 -EPHA6 UCSF GRCh37 3 97198209 97198209 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 61 113 0 ENST00000389672.5:c.2074+1G>A p.X692_splice ENST00000389672 NM_001080448.2 0 -EPHA8 UCSF GRCh37 1 22923809 22923809 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 40 103 0 ENST00000166244.3:c.1770C>T p.Pro590= p.P590= ENST00000166244 NM_020526.3 590 ccC/ccT 0 -EPHB3 UCSF GRCh37 3 184290929 184290929 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 44 61 0 ENST00000330394.2:c.821G>A p.Gly274Asp p.G274D ENST00000330394 NM_004443.3 274 gGc/gAc 0 -EPHB4 UCSF GRCh37 7 100401105 100401105 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 12 21 0 ENST00000358173.3:c.2942G>A p.Gly981Glu p.G981E ENST00000358173 NM_004444.4 981 gGa/gAa 0 -EPN1 UCSF GRCh37 19 56204063 56204063 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 12 40 0 ENST00000411543.2:c.1336G>A p.Val446Ile p.V446I ENST00000411543 NM_001130071.1 446 Gtc/Atc 0 -EPPK1 UCSF GRCh37 8 144945735 144945735 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 19 23 0 ENST00000525985.1:c.1687C>T p.Leu563= p.L563= ENST00000525985 NM_031308.2 563 Ctg/Ttg 0 -ERAP2 UCSF GRCh37 5 96232164 96232164 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 68 145 0 ENST00000437043.3:c.1327C>T p.Pro443Ser p.P443S ENST00000437043 NM_001130140.1 443 Ccg/Tcg 0 -ERBB2IP UCSF GRCh37 5 65349627 65349627 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 47 111 0 ENST00000506030.1:c.2481G>A p.Glu827= p.E827= ENST00000506030 827 gaG/gaA 0 -ERBB3 UCSF GRCh37 12 56490602 56490602 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 77 129 0 ENST00000267101.3:c.2246G>A p.Gly749Glu p.G749E ENST00000267101 NM_001982.3 749 gGa/gAa 0 -ERBB4 UCSF GRCh37 2 212589815 212589815 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 61 137 0 ENST00000342788.4:c.727G>A p.Asp243Asn p.D243N ENST00000342788 NM_005235.2 243 Gac/Aac 0 -ERCC1 UCSF GRCh37 19 45923624 45923624 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 19 54 0 ENST00000013807.5:c.383C>T p.Pro128Leu p.P128L ENST00000013807 NM_202001.2 128 cCc/cTc 0 -ERF UCSF GRCh37 19 42754626 42754626 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 46 89 0 ENST00000222329.4:c.114G>A p.Arg38= p.R38= ENST00000222329 NM_006494.2 38 cgG/cgA 0 -ERF UCSF GRCh37 19 42753580 42753580 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 19 25 0 ENST00000222329.4:c.684C>T p.Asp228= p.D228= ENST00000222329 NM_006494.2 228 gaC/gaT 0 -ERG UCSF GRCh37 21 39763610 39763610 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 41 118 0 ENST00000288319.7:c.842C>T p.Pro281Leu p.P281L ENST00000288319 NM_182918.3 281 cCc/cTc 0 -ERICH1 UCSF GRCh37 8 623456 623456 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 97 164 0 ENST00000262109.7:c.896C>T p.Ala299Val p.A299V ENST00000262109 NM_207332.1 299 gCg/gTg 0 -ERMAP UCSF GRCh37 1 43300733 43300733 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 67 154 0 ENST00000372517.2:c.458C>T p.Pro153Leu p.P153L ENST00000372517 NM_001017922.1 153 cCc/cTc 0 -ERN2 UCSF GRCh37 16 23714018 23714018 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0022 P10_Rec Untested WXS Illumina HiSeq 69 63 125 0 ENST00000256797.4:c.1004C>T p.Thr335Met p.T335M ENST00000256797 NM_033266.3 335 aCg/aTg 0 -ESD UCSF GRCh37 13 47356811 47356811 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 4 74 188 0 ENST00000378720.3:c.372C>T p.Val124= p.V124= ENST00000378720 NM_001984.1 124 gtC/gtT 0 -ESPL1 UCSF GRCh37 12 53680219 53680219 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 109 69 184 0 ENST00000257934.4:c.3699G>A p.Glu1233= p.E1233= ENST00000257934 NM_012291.4 1233 gaG/gaA 0 -ESPN UCSF GRCh37 1 6488326 6488326 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 69 105 0 ENST00000377828.1:c.335C>T p.Ala112Val p.A112V ENST00000377828 NM_031475.2 112 gCc/gTc 0 -ESPN UCSF GRCh37 1 6512025 6512025 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 22 31 0 ENST00000377828.1:c.2194G>A p.Val732Met p.V732M ENST00000377828 NM_031475.2 732 Gtg/Atg 0 -ESR1 UCSF GRCh37 6 152265335 152265335 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 76 120 0 ENST00000206249.3:c.788G>A p.Arg263Lys p.R263K ENST00000206249 NM_000125.3 263 aGa/aAa 0 -ESR1 UCSF GRCh37 6 152265501 152265501 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 94 189 0 ENST00000206249.3:c.954C>T p.Ala318= p.A318= ENST00000206249 NM_000125.3 318 gcC/gcT 0 -ETAA1 UCSF GRCh37 2 67632437 67632437 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 46 111 0 ENST00000272342.5:c.2623C>T p.Leu875Phe p.L875F ENST00000272342 NM_019002.3 875 Ctt/Ttt 0 -ETFB UCSF GRCh37 19 51853620 51853620 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 10 45 0 ENST00000354232.4:c.674C>T p.Thr225Ile p.T225I ENST00000354232 NM_001014763.1 225 aCa/aTa 0 -ETFDH UCSF GRCh37 4 159606372 159606372 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 84 172 0 ENST00000511912.1:c.606+1G>A p.X202_splice ENST00000511912 NM_004453.2 0 -ETS1 UCSF GRCh37 11 128354799 128354799 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 79 187 0 ENST00000392668.4:c.781G>A p.Asp261Asn p.D261N ENST00000392668 NM_001143820.1 261 Gac/Aac 0 -ETS1 UCSF GRCh37 11 128350152 128350152 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 28 76 0 ENST00000392668.4:c.1057C>T p.Arg353Trp p.R353W ENST00000392668 NM_001143820.1 353 Cgg/Tgg 0 -ETV6 UCSF GRCh37 12 12022684 12022684 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 69 148 0 ENST00000396373.4:c.790C>T p.Arg264Cys p.R264C ENST00000396373 NM_001987.4 264 Cgc/Tgc 0 -EVC UCSF GRCh37 4 5785446 5785446 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 44 94 0 ENST00000382674.2:c.1731G>A p.Arg577= p.R577= ENST00000382674 577 agG/agA 0 -EVC2 UCSF GRCh37 4 5624454 5624454 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 48 90 0 ENST00000344408.5:c.2311C>T p.Leu771Phe p.L771F ENST00000344408 NM_147127.4 771 Ctc/Ttc 0 -EVI5 UCSF GRCh37 1 93167697 93167697 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 26 30 57 0 ENST00000370331.1:c.771+1G>A p.X257_splice ENST00000370331 NM_005665.4 0 -EVPL UCSF GRCh37 17 74019607 74019607 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 47 79 0 ENST00000301607.3:c.327C>T p.His109= p.H109= ENST00000301607 NM_001988.2 109 caC/caT 0 -EXOC4 UCSF GRCh37 7 132959927 132959927 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 55 122 0 ENST00000253861.4:c.276+1G>A p.X92_splice ENST00000253861 NM_021807.3 0 -EXOSC4 UCSF GRCh37 8 145135346 145135346 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 210 33 97 0 ENST00000316052.5:c.580G>A p.Gly194Arg p.G194R ENST00000316052 NM_019037.2 194 Gga/Aga 0 -EXT1 UCSF GRCh37 8 119122868 119122868 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 266 88 180 0 ENST00000378204.2:c.418G>A p.Gly140Ser p.G140S ENST00000378204 NM_000127.2 140 Ggc/Agc 0 -EYA2 UCSF GRCh37 20 45801378 45801378 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 63 127 0 ENST00000327619.5:c.1061G>A p.Gly354Asp p.G354D ENST00000327619 NM_005244.4 354 gGc/gAc 0 -F11 UCSF GRCh37 4 187205281 187205281 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 56 149 0 ENST00000403665.2:c.1171G>A p.Gly391Arg p.G391R ENST00000403665 NM_000128.3 391 Gga/Aga 0 -F8 UCSF GRCh37 X 154066018 154066018 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 35 80 0 ENST00000360256.4:c.6910G>A p.Gly2304Arg p.G2304R ENST00000360256 NM_000132.3 2304 Gga/Aga 0 -FADS2 UCSF GRCh37 11 61624933 61624933 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 77 97 0 ENST00000278840.4:c.813G>A p.Pro271= p.P271= ENST00000278840 NM_004265.3 271 ccG/ccA 0 -FAHD2B UCSF GRCh37 2 97750012 97750012 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 47 85 0 ENST00000414820.1:c.688C>T p.Pro230Ser p.P230S ENST00000414820 230 Cca/Tca 0 -EEIG1 UCSF GRCh37 9 130716147 130716147 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 125 52 103 0 ENST00000373095.1:c.204G>A p.Lys68= p.K68= ENST00000373095 NM_001035254.2 68 aaG/aaA 0 -FAM110A UCSF GRCh37 20 826100 826100 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 23 34 0 ENST00000304189.2:c.653G>A p.Gly218Glu p.G218E ENST00000304189 218 gGg/gAg 0 -FAM111A UCSF GRCh37 11 58920368 58920368 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 118 97 195 0 ENST00000528737.1:c.1227G>A p.Arg409= p.R409= ENST00000528737 409 agG/agA 0 -FAM129B UCSF GRCh37 9 130269465 130269465 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 20 30 0 ENST00000373312.3:c.1900C>T p.Pro634Ser p.P634S ENST00000373312 NM_022833.2 634 Ccc/Tcc 0 -FAM129B UCSF GRCh37 9 130289497 130289497 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 34 55 0 ENST00000373312.3:c.291G>A p.Gly97= p.G97= ENST00000373312 NM_022833.2 97 ggG/ggA 0 -FAM135A UCSF GRCh37 6 71235693 71235693 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 55 114 0 ENST00000418814.2:c.2906C>T p.Ser969Leu p.S969L ENST00000418814 NM_001162529.1 969 tCa/tTa 0 -FAM13A UCSF GRCh37 4 89912297 89912297 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 46 91 0 ENST00000264344.5:c.432C>T p.Gly144= p.G144= ENST00000264344 NM_014883.3 144 ggC/ggT 0 -FAM149A UCSF GRCh37 4 187075793 187075793 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 40 98 0 ENST00000227065.4:c.383+1G>A p.X128_splice ENST00000227065 NM_015398.2 0 -FAM150A UCSF GRCh37 8 53451020 53451020 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 31 85 0 ENST00000358543.4:c.373C>T p.Leu125= p.L125= ENST00000358543 NM_207413.3 125 Ctg/Ttg 0 -FAM163A UCSF GRCh37 1 179783118 179783118 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 36 85 0 ENST00000341785.4:c.298C>T p.Pro100Ser p.P100S ENST00000341785 NM_173509.2 100 Cca/Tca 0 -FAM171B UCSF GRCh37 2 187626962 187626962 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 81 213 0 ENST00000304698.5:c.1893C>T p.Val631= p.V631= ENST00000304698 NM_177454.3 631 gtC/gtT 0 -FAM177A1 UCSF GRCh37 14 35515722 35515722 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 9 19 0 ENST00000280987.4:c.53C>T p.Pro18Leu p.P18L ENST00000280987 NM_173607.3 18 cCt/cTt 0 -FAM178A UCSF GRCh37 10 102672943 102672943 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 14 29 0 ENST00000370269.3:c.76C>T p.His26Tyr p.H26Y ENST00000370269 NM_001136123.1 26 Cat/Tat 0 -FAM179A UCSF GRCh37 2 29274931 29274931 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 46 125 0 ENST00000379558.4:c.3032G>A p.Gly1011Asp p.G1011D ENST00000379558 NM_199280.2 1011 gGc/gAc 0 -FAM196A UCSF GRCh37 10 128973748 128973748 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 54 88 0 ENST00000522781.1:c.912C>T p.Ala304= p.A304= ENST00000522781 NM_001039762.2 304 gcC/gcT 0 -FAM199X UCSF GRCh37 X 103432806 103432806 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 139 114 222 0 ENST00000493442.1:c.815C>T p.Thr272Ile p.T272I ENST00000493442 NM_207318.3 272 aCc/aTc 0 -FAM19A2 UCSF GRCh37 12 62148678 62148678 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0015 P10_Rec Untested WXS Illumina HiSeq 56 40 100 0 ENST00000416284.3:c.234G>A p.Thr78= p.T78= ENST00000416284 NM_178539.4 78 acG/acA 0 -SPATA31F1 UCSF GRCh37 9 34724598 34724598 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 78 181 0 ENST00000378788.3:c.2639C>T p.Pro880Leu p.P880L ENST00000378788 NM_001141917.1 880 cCc/cTc 0 -SPATA31F1 UCSF GRCh37 9 34726559 34726559 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 86 172 0 ENST00000378788.3:c.678G>A p.Glu226= p.E226= ENST00000378788 NM_001141917.1 226 gaG/gaA 0 -FAM208B UCSF GRCh37 10 5772512 5772512 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 143 61 151 0 ENST00000328090.5:c.550C>T p.Leu184Phe p.L184F ENST00000328090 NM_017782.4 184 Ctt/Ttt 0 -FAM208B UCSF GRCh37 10 5804588 5804588 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 170 78 182 0 ENST00000328090.5:c.7268C>T p.Ala2423Val p.A2423V ENST00000328090 NM_017782.4 2423 gCt/gTt 0 -FAM208B UCSF GRCh37 10 5790701 5790701 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 55 129 0 ENST00000328090.5:c.5317G>A p.Ala1773Thr p.A1773T ENST00000328090 NM_017782.4 1773 Gcc/Acc 0 -FAM21A UCSF GRCh37 10 51885899 51885899 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 21 140 0 ENST00000282633.5:c.2771G>A p.Gly924Asp p.G924D ENST00000282633 NM_001005751.1 924 gGt/gAt 0 -FAM22F UCSF GRCh37 9 97081362 97081362 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 71 76 0 ENST00000253262.4:c.1656C>T p.Pro552= p.P552= ENST00000253262 NM_017561.1 552 ccC/ccT 0 -FAM22G UCSF GRCh37 9 99701214 99701214 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 51 140 0 ENST00000372322.3:c.2009G>A p.Gly670Asp p.G670D ENST00000372322 NM_001170741.1 670 gGc/gAc 0 -FAM46A UCSF GRCh37 6 82459934 82459934 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 63 145 0 ENST00000320172.6:c.807G>A p.Gln269= p.Q269= ENST00000320172 NM_017633.2 269 caG/caA 0 -FAM49A UCSF GRCh37 2 16769397 16769397 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 60 127 0 ENST00000381323.3:c.-10G>A p.X4_splice ENST00000381323 NM_030797.3 0 -FAM65B UCSF GRCh37 6 24869322 24869322 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 89 156 0 ENST00000259698.4:c.414G>A p.Lys138= p.K138= ENST00000259698 NM_014722.2 138 aaG/aaA 0 -FAM70A UCSF GRCh37 X 119410813 119410813 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 88 184 0 ENST00000309720.5:c.674C>T p.Ala225Val p.A225V ENST00000309720 NM_017938.3 225 gCc/gTc 0 -FAM75C2 UCSF GRCh37 9 90746733 90746733 + non_coding_transcript_exon_variant RNA SNP C C G NOVEL P10_Rec Untested WXS Illumina HiSeq 131 259 267 1 ENST00000324915.5:n.1417G>C *473* ENST00000324915 0 -FAM84A UCSF GRCh37 2 14774305 14774305 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 24 43 0 ENST00000295092.2:c.202C>T p.Pro68Ser p.P68S ENST00000295092 NM_145175.2 68 Ccc/Tcc 0 -FANCC UCSF GRCh37 9 97869483 97869483 + synonymous_variant Silent SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 59 22 49 0 ENST00000289081.3:c.1398C>T p.Asp466= p.D466= ENST00000289081 NM_000136.2 466 gaC/gaT 0 -FANCG UCSF GRCh37 9 35079448 35079448 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 43 67 0 ENST00000378643.3:c.74G>A p.Arg25Gln p.R25Q ENST00000378643 NM_004629.1 25 cGa/cAa 0 -FANCI UCSF GRCh37 15 89843080 89843080 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 74 156 0 ENST00000310775.7:c.2686G>A p.Gly896Arg p.G896R ENST00000310775 NM_001113378.1 896 Gga/Aga 0 -FASN UCSF GRCh37 17 80045069 80045069 + missense_variant Missense_Mutation SNP G G A snp132_rs4363911 P10_Rec somatic WXS Sanger Illumina HiSeq 16 11 12 0 ENST00000306749.2:c.3284C>T p.Ser1095Phe p.S1095F ENST00000306749 NM_004104.4 1095 tCc/tTc 0 -FBN2 UCSF GRCh37 5 127653923 127653923 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 94 202 0 ENST00000508053.1:c.4635C>T p.Gly1545= p.G1545= ENST00000508053 1545 ggC/ggT 0 -FBN3 UCSF GRCh37 19 8150343 8150343 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 13 7 15 0 ENST00000600128.1:c.6991G>A p.Gly2331Ser p.G2331S ENST00000600128 2331 Ggc/Agc 0 -FBN3 UCSF GRCh37 19 8159401 8159401 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 24 49 0 ENST00000600128.1:c.5834G>A p.Cys1945Tyr p.C1945Y ENST00000600128 1945 tGc/tAc 0 -FBN3 UCSF GRCh37 19 8160940 8160940 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 45 101 0 ENST00000600128.1:c.5564C>T p.Pro1855Leu p.P1855L ENST00000600128 1855 cCt/cTt 0 -FBN3 UCSF GRCh37 19 8130812 8130812 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 29 79 0 ENST00000600128.1:c.8421G>A p.Gln2807= p.Q2807= ENST00000600128 2807 caG/caA 0 -FBXL19 UCSF GRCh37 16 30958069 30958069 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 17 39 0 ENST00000380310.2:c.1706G>A p.Gly569Asp p.G569D ENST00000380310 NM_001099784.2 569 gGt/gAt 0 -FBXL22 UCSF GRCh37 15 63889795 63889795 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 39 89 0 ENST00000360587.2:c.204C>T p.Gly68= p.G68= ENST00000360587 NM_203373.2 68 ggC/ggT 0 -FBXL5 UCSF GRCh37 4 15640227 15640227 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 50 128 0 ENST00000341285.3:c.487G>A p.Asp163Asn p.D163N ENST00000341285 NM_001193534.1 163 Gat/Aat 0 -FBXL6 UCSF GRCh37 8 145581850 145581850 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 4 12 0 ENST00000331890.5:c.258G>A p.Arg86= p.R86= ENST00000331890 NM_012162.3 86 agG/agA 0 -FBXO18 UCSF GRCh37 10 5957475 5957475 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 116 48 90 0 ENST00000379999.5:c.1659C>T p.Phe553= p.F553= ENST00000379999 NM_032807.4 553 ttC/ttT 0 -FBXO24 UCSF GRCh37 7 100193252 100193252 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 70 120 0 ENST00000427939.2:c.1243C>T p.Arg415Ter p.R415* ENST00000427939 NM_012172.4 415 Cga/Tga 0 -FBXO34 UCSF GRCh37 14 55817500 55817500 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 54 143 0 ENST00000313833.4:c.392G>A p.Arg131Lys p.R131K ENST00000313833 NM_017943.3 131 aGg/aAg 0 -FBXO38 UCSF GRCh37 5 147774451 147774451 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 117 84 220 0 ENST00000394370.3:c.112C>T p.Leu38Phe p.L38F ENST00000394370 38 Ctt/Ttt 0 -FBXO39 UCSF GRCh37 17 6690267 6690267 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 69 153 0 ENST00000321535.4:c.1192G>A p.Val398Ile p.V398I ENST00000321535 NM_153230.2 398 Gta/Ata 0 -FBXO40 UCSF GRCh37 3 121341947 121341947 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 70 188 0 ENST00000338040.4:c.1671G>A p.Arg557= p.R557= ENST00000338040 NM_016298.3 557 agG/agA 0 -FCGR1A UCSF GRCh37 1 149755806 149755806 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 74 206 0 ENST00000369168.4:c.300C>T p.Ile100= p.I100= ENST00000369168 NM_000566.3 100 atC/atT 0 -FCHSD1 UCSF GRCh37 5 141026182 141026182 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 30 71 0 ENST00000435817.2:c.1032C>T p.Asn344= p.N344= ENST00000435817 NM_033449.2 344 aaC/aaT 0 -FCN1 UCSF GRCh37 9 137809617 137809617 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 43 80 0 ENST00000371806.3:c.101C>T p.Pro34Leu p.P34L ENST00000371806 NM_002003.3 34 cCa/cTa 0 -FDPS UCSF GRCh37 1 155289672 155289672 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 82 77 139 0 ENST00000356657.6:c.1012G>A p.Val338Ile p.V338I ENST00000356657 NM_001135821.1 338 Gtt/Att 0 -FECH UCSF GRCh37 18 55218022 55218022 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 43 100 0 ENST00000382873.3:c.1212G>A p.Gln404= p.Q404= ENST00000382873 404 caG/caA 0 -FER1L5 UCSF GRCh37 2 97370003 97370003 + downstream_gene_variant 3'Flank SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 97 223 0 ENST00000377079 NM_001142292.1 0 -FER1L6 UCSF GRCh37 8 124978277 124978277 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 98 34 84 0 ENST00000522917.1:c.228G>A p.Gly76= p.G76= ENST00000522917 NM_001039112.2 76 ggG/ggA 0 -FERMT1 UCSF GRCh37 20 6060213 6060213 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 53 139 0 ENST00000217289.4:c.1730G>A p.Ser577Asn p.S577N ENST00000217289 NM_017671.4 577 aGc/aAc 0 -FERMT3 UCSF GRCh37 11 63978260 63978260 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 74 100 0 ENST00000279227.5:c.338G>A p.Arg113His p.R113H ENST00000279227 NM_178443.2 113 cGt/cAt 0 -FERMT3 UCSF GRCh37 11 63988578 63988578 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 34 81 0 ENST00000279227.5:c.1648C>T p.Leu550= p.L550= ENST00000279227 NM_178443.2 550 Ctg/Ttg 0 -FFAR3 UCSF GRCh37 19 35849937 35849937 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 216 68 308 0 ENST00000327809.4:c.145G>A p.Ala49Thr p.A49T ENST00000327809 NM_005304.3 49 Gcc/Acc 0 -FGD2 UCSF GRCh37 6 36995292 36995292 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 78 101 0 ENST00000274963.8:c.1693G>A p.Gly565Ser p.G565S ENST00000274963 NM_173558.3 565 Ggc/Agc 0 -FGF12 UCSF GRCh37 3 192125961 192125961 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 24 56 0 ENST00000454309.2:c.52G>A p.Glu18Lys p.E18K ENST00000454309 NM_021032.4 18 Gag/Aag 0 -FGF3 UCSF GRCh37 11 69631120 69631120 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 50 98 0 ENST00000334134.2:c.292G>A p.Ala98Thr p.A98T ENST00000334134 NM_005247.2 98 Gcc/Acc 0 -FGF5 UCSF GRCh37 4 81188231 81188231 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 36 104 0 ENST00000312465.7:c.253G>A p.Gly85Arg p.G85R ENST00000312465 NM_004464.3 85 Ggg/Agg 0 -FGFR1 UCSF GRCh37 8 38271242 38271242 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 14 28 0 ENST00000425967.3:c.2466G>A p.Gly822= p.G822= ENST00000425967 NM_001174067.1 822 ggG/ggA 0 -FGFR3 UCSF GRCh37 4 1807330 1807330 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 44 104 0 ENST00000260795.2:c.1579G>A p.Glu527Lys p.E527K ENST00000260795 527 Gag/Aag 0 -FHL1 UCSF GRCh37 X 135290032 135290032 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 65 130 0 ENST00000394155.2:c.413C>T p.Thr138Ile p.T138I ENST00000394155 NM_001159702.2 138 aCt/aTt 0 -FLG UCSF GRCh37 1 152285468 152285468 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 157 133 267 0 ENST00000368799.1:c.1894G>A p.Glu632Lys p.E632K ENST00000368799 NM_002016.1 632 Gaa/Aaa 0 -FLG UCSF GRCh37 1 152280068 152280068 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 122 115 214 0 ENST00000368799.1:c.7294G>A p.Gly2432Arg p.G2432R ENST00000368799 NM_002016.1 2432 Ggg/Agg 0 -FLG2 UCSF GRCh37 1 152323669 152323669 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 155 143 235 0 ENST00000388718.5:c.6593G>A p.Gly2198Glu p.G2198E ENST00000388718 NM_001014342.2 2198 gGa/gAa 0 -FLJ43860 UCSF GRCh37 8 142446962 142446962 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 9 19 0 ENST00000606664.1:n.2318C>T *773* ENST00000606664 0 -FLNA UCSF GRCh37 X 153592985 153592985 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 46 84 0 ENST00000369850.3:c.1931C>T p.Ala644Val p.A644V ENST00000369850 NM_001110556.1 644 gCc/gTc 0 -FLNB UCSF GRCh37 3 58149045 58149045 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 5 35 80 0 ENST00000490882.1:c.7279G>A p.Gly2427Arg p.G2427R ENST00000490882 NM_001164317.1 2427 Ggg/Agg 0 -FLNC UCSF GRCh37 7 128482991 128482991 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 21 60 0 ENST00000325888.8:c.2533G>A p.Val845Met p.V845M ENST00000325888 NM_001458.4 845 Gtg/Atg 0 -FLRT2 UCSF GRCh37 14 86088382 86088382 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 70 124 0 ENST00000330753.4:c.524C>T p.Pro175Leu p.P175L ENST00000330753 NM_013231.4 175 cCt/cTt 0 -FLT1 UCSF GRCh37 13 28880854 28880854 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 33 93 0 ENST00000282397.4:c.3776C>T p.Thr1259Ile p.T1259I ENST00000282397 NM_002019.4 1259 aCc/aTc 0 -FLT4 UCSF GRCh37 5 180053249 180053249 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 39 90 0 ENST00000261937.6:c.1120G>A p.Ala374Thr p.A374T ENST00000261937 NM_182925.4 374 Gca/Aca 0 -FLVCR1 UCSF GRCh37 1 213061276 213061276 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 41 100 0 ENST00000366971.4:c.1240G>A p.Val414Ile p.V414I ENST00000366971 NM_014053.3 414 Gtt/Att 0 -FLVCR2 UCSF GRCh37 14 76101342 76101342 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 29 80 0 ENST00000238667.4:c.1110G>A p.Arg370= p.R370= ENST00000238667 NM_017791.2 370 agG/agA 0 -FMOD UCSF GRCh37 1 203316597 203316597 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 99 88 173 0 ENST00000354955.4:c.802C>T p.Pro268Ser p.P268S ENST00000354955 NM_002023.4 268 Ccc/Tcc 0 -FN3K UCSF GRCh37 17 80698656 80698656 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 25 76 0 ENST00000300784.7:c.311G>A p.Gly104Glu p.G104E ENST00000300784 NM_022158.3 104 gGa/gAa 0 -FNDC3B UCSF GRCh37 3 172098803 172098803 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 117 72 195 0 ENST00000336824.4:c.3223G>A p.Glu1075Lys p.E1075K ENST00000336824 NM_001135095.1 1075 Gag/Aag 0 -FNIP2 UCSF GRCh37 4 159790480 159790480 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 58 89 1 ENST00000264433.6:c.2692G>A p.Gly898Arg p.G898R ENST00000264433 NM_020840.1 898 Gga/Aga 0 -FOXA1 UCSF GRCh37 14 38060636 38060636 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 44 116 0 ENST00000250448.2:c.1353G>A p.Glu451= p.E451= ENST00000250448 NM_004496.3 451 gaG/gaA 0 -FOXD4 UCSF GRCh37 9 116953 116953 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 31 93 0 ENST00000382500.2:c.1167G>A p.Leu389= p.L389= ENST00000382500 NM_207305.4 389 ctG/ctA 0 -FOXM1 UCSF GRCh37 12 2968772 2968772 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 30 76 0 ENST00000342628.2:c.1438G>A p.Glu480Lys p.E480K ENST00000342628 NM_202002.2 480 Gag/Aag 0 -FOXN2 UCSF GRCh37 2 48602534 48602534 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 50 89 0 ENST00000340553.3:c.1248C>T p.Ser416= p.S416= ENST00000340553 NM_002158.3 416 tcC/tcT 0 -FOXO3 UCSF GRCh37 6 108984734 108984734 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 51 97 0 ENST00000406360.1:c.698G>A p.Trp233Ter p.W233* ENST00000406360 NM_001455.3 233 tGg/tAg 0 -FOXRED2 UCSF GRCh37 22 36900392 36900392 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 56 92 0 ENST00000397224.4:c.802G>A p.Asp268Asn p.D268N ENST00000397224 NM_001102371.1 268 Gat/Aat 0 -FPGT-TNNI3K UCSF GRCh37 1 74905277 74905277 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 68 142 0 ENST00000370891.2:c.2285G>A p.Gly762Asp p.G762D ENST00000370891 NM_001112808.2 762 gGc/gAc 0 -FPGT UCSF GRCh37 1 74667011 74667011 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 39 112 0 ENST00000370891.2:c.260G>A p.Gly87Glu p.G87E ENST00000370891 NM_001112808.2 87 gGa/gAa 0 -FPR2 UCSF GRCh37 19 52272376 52272376 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 94 191 0 ENST00000598776.1:c.465C>T p.Val155= p.V155= ENST00000598776 NM_001462.3 155 gtC/gtT 0 -FRAS1 UCSF GRCh37 4 79239994 79239994 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 87 162 0 ENST00000264895.6:c.1991G>A p.Gly664Asp p.G664D ENST00000264895 NM_025074.6 664 gGt/gAt 0 -FRAS1 UCSF GRCh37 4 79293994 79293994 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 100 77 186 0 ENST00000264895.6:c.2992G>A p.Asp998Asn p.D998N ENST00000264895 NM_025074.6 998 Gac/Aac 0 -FRMD4A UCSF GRCh37 10 13702466 13702466 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 134 58 107 0 ENST00000357447.2:c.1748C>T p.Pro583Leu p.P583L ENST00000357447 NM_018027.3 583 cCt/cTt 0 -FRMPD2 UCSF GRCh37 10 49395323 49395323 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 22 50 0 ENST00000374201.3:c.2178C>T p.Gly726= p.G726= ENST00000374201 NM_001018071.3 726 ggC/ggT 0 -FRMPD4 UCSF GRCh37 X 12734380 12734380 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 129 102 188 1 ENST00000380682.1:c.1802A>G p.Tyr601Cys p.Y601C ENST00000380682 NM_014728.3 601 tAt/tGt 0 -FRY UCSF GRCh37 13 32735339 32735339 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 72 157 0 ENST00000380250.3:c.1843C>T p.Leu615= p.L615= ENST00000380250 NM_023037.2 615 Ctg/Ttg 0 -FSD2 UCSF GRCh37 15 83437731 83437731 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 71 155 0 ENST00000334574.8:c.1454C>T p.Ala485Val p.A485V ENST00000334574 485 gCt/gTt 0 -FSHR UCSF GRCh37 2 49191001 49191001 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 83 210 0 ENST00000406846.2:c.959C>T p.Ser320Phe p.S320F ENST00000406846 NM_000145.3 320 tCc/tTc 0 -FSTL1 UCSF GRCh37 3 120129807 120129807 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 61 145 0 ENST00000295633.3:c.323C>T p.Ala108Val p.A108V ENST00000295633 NM_007085.4 108 gCc/gTc 0 -FUK UCSF GRCh37 16 70503125 70503125 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 67 121 0 ENST00000288078.6:c.854G>A p.Arg285Lys p.R285K ENST00000288078 NM_145059.2 285 aGg/aAg 0 -FUT4 UCSF GRCh37 11 94278693 94278693 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 40 105 0 ENST00000358752.2:c.1394C>T p.Ala465Val p.A465V ENST00000358752 NM_002033.3 465 gCc/gTc 0 -FZD6 UCSF GRCh37 8 104343670 104343670 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 191 56 120 0 ENST00000358755.4:c.2054C>T p.Ser685Phe p.S685F ENST00000358755 NM_001164616.1 685 tCt/tTt 0 -G6PC3 UCSF GRCh37 17 42153172 42153172 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 83 138 0 ENST00000269097.4:c.802C>T p.Pro268Ser p.P268S ENST00000269097 NM_138387.3 268 Ccc/Tcc 0 -GABPB2 UCSF GRCh37 1 151076124 151076124 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 34 116 0 ENST00000368918.3:c.709C>T p.Pro237Ser p.P237S ENST00000368918 NM_144618.2 237 Ccc/Tcc 0 -GABRA2 UCSF GRCh37 4 46390656 46390656 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 86 209 1 ENST00000510861.1:c.68C>T p.Ala23Val p.A23V ENST00000510861 23 gCc/gTc 0 -GABRE UCSF GRCh37 X 151123325 151123325 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 36 43 57 0 ENST00000370328.3:c.1369T>C p.Phe457Leu p.F457L ENST00000370328 NM_004961.3 457 Ttc/Ctc 0 -GABRR1 UCSF GRCh37 6 89913153 89913153 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 39 138 0 ENST00000454853.2:c.173+1G>A p.X58_splice ENST00000454853 NM_001256704.1 0 -GADD45B UCSF GRCh37 19 2477570 2477570 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 14 31 0 ENST00000215631.4:c.454G>A p.Val152Ile p.V152I ENST00000215631 NM_015675.3 152 Gtc/Atc 0 -GAK UCSF GRCh37 4 860250 860250 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 13 42 0 ENST00000314167.4:c.2945G>A p.Gly982Asp p.G982D ENST00000314167 NM_005255.2 982 gGc/gAc 0 -GAL3ST4 UCSF GRCh37 7 99764134 99764134 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 60 139 0 ENST00000360039.4:c.420C>T p.Asn140= p.N140= ENST00000360039 NM_024637.4 140 aaC/aaT 0 -GALK1 UCSF GRCh37 17 73754159 73754159 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 22 30 0 ENST00000588479.1:c.1157G>A p.Gly386Glu p.G386E ENST00000588479 386 gGa/gAa 0 -GALNT1 UCSF GRCh37 18 33283592 33283592 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 51 149 0 ENST00000269195.5:c.1518G>A p.Trp506Ter p.W506* ENST00000269195 NM_020474.3 506 tgG/tgA 0 -GALNT2 UCSF GRCh37 1 230381809 230381809 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 56 119 0 ENST00000366672.4:c.730G>A p.Asp244Asn p.D244N ENST00000366672 NM_004481.3 244 Gac/Aac 0 -GALNT5 UCSF GRCh37 2 158115100 158115100 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 58 144 0 ENST00000259056.4:c.506C>T p.Pro169Leu p.P169L ENST00000259056 NM_014568.1 169 cCa/cTa 0 -GALNT5 UCSF GRCh37 2 158115564 158115564 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 88 100 165 0 ENST00000259056.4:c.970A>G p.Ile324Val p.I324V ENST00000259056 NM_014568.1 324 Att/Gtt 0 -GALNT6 UCSF GRCh37 12 51752915 51752915 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 137 136 256 0 ENST00000543196.2:c.1368+1G>A p.X456_splice ENST00000543196 0 -GALNTL1 UCSF GRCh37 14 69814702 69814702 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 38 113 0 ENST00000337827.4:c.1522C>T p.Pro508Ser p.P508S ENST00000337827 NM_020692.2 508 Cct/Tct 0 -GALR2 UCSF GRCh37 17 74071015 74071015 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 17 20 0 ENST00000329003.3:c.51C>T p.Gly17= p.G17= ENST00000329003 NM_003857.2 17 ggC/ggT 0 -GAPT UCSF GRCh37 5 57790774 57790774 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 66 154 0 ENST00000396776.2:c.411G>A p.Gln137= p.Q137= ENST00000396776 NM_152687.2 137 caG/caA 0 -GARS UCSF GRCh37 7 30672015 30672015 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 105 78 189 0 ENST00000389266.3:c.2056C>T p.Leu686= p.L686= ENST00000389266 NM_002047.2 686 Ctg/Ttg 0 -GAS1 UCSF GRCh37 9 89561092 89561092 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 13 31 0 ENST00000298743.7:c.603C>T p.Asp201= p.D201= ENST00000298743 NM_002048.2 201 gaC/gaT 0 -GAS7 UCSF GRCh37 17 9885131 9885131 + synonymous_variant Silent SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 48 50 117 0 ENST00000432992.2:c.375G>A p.Leu125= p.L125= ENST00000432992 NM_201433.1 125 ctG/ctA 0 -GBF1 UCSF GRCh37 10 104128582 104128582 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 64 122 0 ENST00000369983.3:c.2963G>A p.Ser988Asn p.S988N ENST00000369983 NM_004193.2 988 aGc/aAc 0 -GBGT1 UCSF GRCh37 9 136030567 136030567 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 30 89 0 ENST00000372040.3:c.357G>A p.Gly119= p.G119= ENST00000372040 119 ggG/ggA 0 -GCDH UCSF GRCh37 19 13010315 13010315 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 56 35 92 0 ENST00000222214.5:c.1277G>A p.Arg426Lys p.R426K ENST00000222214 NM_000159.3 426 aGa/aAa 0 -GCNT2 UCSF GRCh37 6 10586567 10586567 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 99 192 0 ENST00000379597.3:c.926-35017G>A *309* ENST00000379597 0 -GDF6 UCSF GRCh37 8 97157609 97157609 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 33 6 30 0 ENST00000287020.5:c.550C>T p.Leu184Phe p.L184F ENST00000287020 NM_001001557.2 184 Ctc/Ttc 0 -GDI2 UCSF GRCh37 10 5815904 5815904 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 137 51 129 0 ENST00000380191.4:c.720G>A p.Arg240= p.R240= ENST00000380191 NM_001494.3 240 agG/agA 0 -GDPD2 UCSF GRCh37 X 69647004 69647004 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 57 119 0 ENST00000453994.2:c.720C>T p.Thr240= p.T240= ENST00000453994 NM_001171192.1 240 acC/acT 0 -GDPD3 UCSF GRCh37 16 30123744 30123744 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 49 122 0 ENST00000406256.3:c.366C>T p.Gly122= p.G122= ENST00000406256 NM_024307.2 122 ggC/ggT 0 -GEM UCSF GRCh37 8 95264291 95264291 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 216 62 160 0 ENST00000297596.2:c.569G>A p.Gly190Asp p.G190D ENST00000297596 NM_005261.3 190 gGc/gAc 0 -GEM UCSF GRCh37 8 95262628 95262628 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 209 59 133 0 ENST00000297596.2:c.801G>A p.Arg267= p.R267= ENST00000297596 NM_005261.3 267 agG/agA 0 -GEMIN4 UCSF GRCh37 17 650358 650358 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 105 181 0 ENST00000319004.5:c.925C>T p.Pro309Ser p.P309S ENST00000319004 NM_015721.2 309 Ccc/Tcc 0 -GGCX UCSF GRCh37 2 85785661 85785661 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 78 130 0 ENST00000233838.4:c.441G>A p.Trp147Ter p.W147* ENST00000233838 NM_000821.5 147 tgG/tgA 0 -GGT7 UCSF GRCh37 20 33450626 33450626 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 32 83 0 ENST00000336431.5:c.548G>A p.Gly183Asp p.G183D ENST00000336431 NM_178026.2 183 gGc/gAc 0 -GGT7 UCSF GRCh37 20 33449338 33449338 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 46 127 0 ENST00000336431.5:c.585C>T p.Ile195= p.I195= ENST00000336431 NM_178026.2 195 atC/atT 0 -GIP UCSF GRCh37 17 47039108 47039108 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 20 16 41 0 ENST00000357424.2:c.331G>A p.Glu111Lys p.E111K ENST00000357424 NM_004123.2 111 Gag/Aag 0 -GJA9 UCSF GRCh37 1 39340782 39340782 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 116 96 171 0 ENST00000357771.3:c.989C>T p.Ser330Phe p.S330F ENST00000357771 NM_030772.4 330 tCt/tTt 0 -GK2 UCSF GRCh37 4 80329033 80329033 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 145 110 223 0 ENST00000358842.3:c.322C>T p.Leu108Phe p.L108F ENST00000358842 NM_033214.2 108 Ctc/Ttc 0 -GLI4 UCSF GRCh37 8 144358409 144358409 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 16 27 0 ENST00000340042.1:c.566G>A p.Gly189Asp p.G189D ENST00000340042 NM_138465.3 189 gGc/gAc 0 -GLIPR1 UCSF GRCh37 12 75892611 75892611 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 101 187 0 ENST00000266659.3:c.654C>T p.Tyr218= p.Y218= ENST00000266659 NM_006851.2 218 taC/taT 0 -GLIS2 UCSF GRCh37 16 4384834 4384834 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 47 84 0 ENST00000262366.3:c.378C>T p.Val126= p.V126= ENST00000262366 126 gtC/gtT 0 -GLIS2 UCSF GRCh37 16 4384886 4384886 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 43 69 0 ENST00000262366.3:c.430C>T p.Leu144= p.L144= ENST00000262366 144 Ctg/Ttg 0 -GLRA4 UCSF GRCh37 X 102968460 102968460 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 53 131 0 ENST00000372617.4:c.1071G>A p.Arg357= p.R357= ENST00000372617 NM_001024452.2 357 agG/agA 0 -GLTPD1 UCSF GRCh37 1 1262672 1262672 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 41 60 0 ENST00000343938.4:c.174C>T p.Val58= p.V58= ENST00000343938 NM_001029885.1 58 gtC/gtT 0 -GLYAT UCSF GRCh37 11 58478192 58478192 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 79 139 0 ENST00000344743.3:c.359C>T p.Ala120Val p.A120V ENST00000344743 NM_201648.2 120 gCc/gTc 0 -GMEB1 UCSF GRCh37 1 29030728 29030728 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 62 192 0 ENST00000294409.2:c.785G>A p.Gly262Glu p.G262E ENST00000294409 NM_006582.3 262 gGa/gAa 0 -GMEB2 UCSF GRCh37 20 62227072 62227072 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 34 70 0 ENST00000266068.1:c.510C>T p.Val170= p.V170= ENST00000266068 170 gtC/gtT 0 -GMIP UCSF GRCh37 19 19747590 19747590 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 49 57 0 ENST00000203556.4:c.1253C>T p.Thr418Ile p.T418I ENST00000203556 NM_016573.2 418 aCt/aTt 0 -GMIP UCSF GRCh37 19 19746530 19746530 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 68 142 0 ENST00000203556.4:c.1328G>A p.Gly443Asp p.G443D ENST00000203556 NM_016573.2 443 gGc/gAc 0 -GMNC UCSF GRCh37 3 190578610 190578610 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 83 196 0 ENST00000442080.1:c.41G>A p.Gly14Glu p.G14E ENST00000442080 NM_001146686.2 14 gGa/gAa 0 -GMNC UCSF GRCh37 3 190573093 190573093 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 68 138 0 ENST00000442080.1:c.996G>A p.Lys332= p.K332= ENST00000442080 NM_001146686.2 332 aaG/aaA 0 -GNE UCSF GRCh37 9 36249212 36249212 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 101 185 0 ENST00000396594.3:c.234C>T p.Gly78= p.G78= ENST00000396594 NM_001128227.2 78 ggC/ggT 0 -GNL1 UCSF GRCh37 6 30520252 30520252 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 61 102 0 ENST00000376621.3:c.1091G>A p.Gly364Asp p.G364D ENST00000376621 NM_005275.3 364 gGc/gAc 0 -GNPTAB UCSF GRCh37 12 102161819 102161819 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 79 66 158 0 ENST00000299314.7:c.1404C>T p.Cys468= p.C468= ENST00000299314 NM_024312.4 468 tgC/tgT 0 -GOLGA2 UCSF GRCh37 9 131020399 131020399 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 52 87 0 ENST00000421699.2:c.2287G>A p.Val763Met p.V763M ENST00000421699 NM_004486.4 763 Gtg/Atg 0 -GOLGA2 UCSF GRCh37 9 131021652 131021652 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 17 38 0 ENST00000421699.2:c.1810G>A p.Glu604Lys p.E604K ENST00000421699 NM_004486.4 604 Gag/Aag 0 -GOLGA6D UCSF GRCh37 15 75586567 75586567 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P10_Rec Untested WXS Illumina HiSeq 10 0 ENST00000434739.3:c.1924del p.Gln642ArgfsTer15 p.Q642Rfs*15 ENST00000434739 NM_001145224.1 640 gCc/gc 0 -GOLGB1 UCSF GRCh37 3 121416851 121416851 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 105 229 0 ENST00000393667.3:c.2519G>A p.Ser840Asn p.S840N ENST00000393667 NM_001256486.1 840 aGc/aAc 0 -GOLGB1 UCSF GRCh37 3 121421378 121421378 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 122 95 220 0 ENST00000393667.3:c.1469G>A p.Gly490Glu p.G490E ENST00000393667 NM_001256486.1 490 gGa/gAa 0 -GOLM1 UCSF GRCh37 9 88661417 88661417 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 12 48 0 ENST00000388712.3:c.435G>A p.Gln145= p.Q145= ENST00000388712 NM_016548.3 145 caG/caA 0 -GOLT1A UCSF GRCh37 1 204172028 204172028 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 38 77 0 ENST00000308302.3:c.113G>A p.Gly38Glu p.G38E ENST00000308302 NM_198447.1 38 gGa/gAa 0 -GPAA1 UCSF GRCh37 8 145140933 145140933 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 229 60 95 0 ENST00000355091.4:c.1771G>A p.Glu591Lys p.E591K ENST00000355091 NM_003801.3 591 Gag/Aag 0 -GPATCH2 UCSF GRCh37 1 217793651 217793651 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 88 167 1 ENST00000366935.3:c.247G>A p.Glu83Lys p.E83K ENST00000366935 NM_018040.2 83 Gag/Aag 0 -GPATCH2 UCSF GRCh37 1 217793830 217793830 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 61 170 0 ENST00000366935.3:c.68G>A p.Arg23Lys p.R23K ENST00000366935 NM_018040.2 23 aGa/aAa 0 -GPATCH8 UCSF GRCh37 17 42477705 42477705 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 55 181 0 ENST00000591680.1:c.1740G>A p.Arg580= p.R580= ENST00000591680 NM_001002909.2 580 agG/agA 0 -GPC1 UCSF GRCh37 2 241401769 241401769 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 5 14 0 ENST00000264039.2:c.487C>T p.Leu163= p.L163= ENST00000264039 NM_002081.2 163 Ctg/Ttg 0 -GPC5 UCSF GRCh37 13 92408593 92408593 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 85 193 0 ENST00000377067.3:c.1199G>A p.Gly400Asp p.G400D ENST00000377067 NM_004466.4 400 gGt/gAt 0 -GPCPD1 UCSF GRCh37 20 5550836 5550836 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 50 121 0 ENST00000379019.4:c.1106C>T p.Pro369Leu p.P369L ENST00000379019 NM_019593.3 369 cCc/cTc 0 -GPNMB UCSF GRCh37 7 23300324 23300324 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 94 207 0 ENST00000381990.2:c.950C>T p.Ala317Val p.A317V ENST00000381990 NM_002510.2 317 gCt/gTt 0 -GPR113 UCSF GRCh37 2 26534114 26534114 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 56 76 0 ENST00000311519.1:c.2482G>A p.Gly828Ser p.G828S ENST00000311519 NM_001145168.1 828 Ggc/Agc 0 -GPR113 UCSF GRCh37 2 26533621 26533621 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 39 100 0 ENST00000311519.1:c.2975C>T p.Thr992Ile p.T992I ENST00000311519 NM_001145168.1 992 aCt/aTt 0 -GPR124 UCSF GRCh37 8 37698907 37698907 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 13 16 25 0 ENST00000412232.2:c.3051C>T p.Val1017= p.V1017= ENST00000412232 NM_032777.9 1017 gtC/gtT 0 -GPR132 UCSF GRCh37 14 105517706 105517706 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 45 110 0 ENST00000329797.3:c.768C>T p.Ala256= p.A256= ENST00000329797 NM_013345.3 256 gcC/gcT 0 -GPR141 UCSF GRCh37 7 37780399 37780399 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 107 171 0 ENST00000447769.1:c.404C>T p.Ala135Val p.A135V ENST00000447769 135 gCc/gTc 0 -GPR158 UCSF GRCh37 10 25464933 25464933 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 23 49 0 ENST00000376351.3:c.584C>T p.Thr195Met p.T195M ENST00000376351 NM_020752.2 195 aCg/aTg 0 -GPR161 UCSF GRCh37 1 168066189 168066189 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 51 119 0 ENST00000537209.1:c.716C>T p.Ala239Val p.A239V ENST00000537209 NM_001267609.1 239 gCa/gTa 0 -GPR162 UCSF GRCh37 12 6933578 6933578 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 49 79 0 ENST00000311268.3:c.514G>A p.Val172Ile p.V172I ENST00000311268 NM_019858.1 172 Gtc/Atc 0 -GPR179 UCSF GRCh37 17 36485896 36485896 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 131 88 189 0 ENST00000342292.4:c.3556G>A p.Gly1186Ser p.G1186S ENST00000342292 NM_001004334.2 1186 Ggt/Agt 0 -GPR182 UCSF GRCh37 12 57390041 57390041 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 115 84 173 0 ENST00000300098.1:c.1048G>A p.Ala350Thr p.A350T ENST00000300098 NM_007264.3 350 Gcc/Acc 0 -GPR25 UCSF GRCh37 1 200842190 200842190 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 7 11 0 ENST00000304244.2:c.25C>T p.Pro9Ser p.P9S ENST00000304244 NM_005298.3 9 Ccc/Tcc 0 -GPR26 UCSF GRCh37 10 125447457 125447457 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 49 105 0 ENST00000284674.1:c.795C>T p.Leu265= p.L265= ENST00000284674 NM_153442.3 265 ctC/ctT 0 -GPR44 UCSF GRCh37 11 60620894 60620894 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 14 22 0 ENST00000332539.4:c.302C>T p.Thr101Ile p.T101I ENST00000332539 NM_004778.2 101 aCc/aTc 0 -GPR98 UCSF GRCh37 5 90087119 90087119 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 99 71 181 0 ENST00000405460.2:c.14473G>A p.Asp4825Asn p.D4825N ENST00000405460 NM_032119.3 4825 Gat/Aat 0 -GPR98 UCSF GRCh37 5 89941817 89941817 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 65 157 0 ENST00000405460.2:c.2931C>T p.Ile977= p.I977= ENST00000405460 NM_032119.3 977 atC/atT 0 -GPRC5D UCSF GRCh37 12 13102939 13102939 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 100 79 177 0 ENST00000228887.1:c.380C>T p.Thr127Met p.T127M ENST00000228887 NM_018654.1 127 aCg/aTg 0 -GPRC5D UCSF GRCh37 12 13103201 13103201 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 65 151 0 ENST00000228887.1:c.118C>T p.Leu40= p.L40= ENST00000228887 NM_018654.1 40 Cta/Tta 0 -GPRIN2 UCSF GRCh37 10 47000217 47000217 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.067,1000g2011may_all_0.1080,snp132_rs72780221 P10_Rec Untested WXS Illumina HiSeq 31 7 21 0 ENST00000374314.4:c.1337G>A p.Arg446His p.R446H ENST00000374314 446 cGc/cAc 0 -GPS1 UCSF GRCh37 17 80013898 80013898 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 28 39 0 ENST00000392358.2:c.976G>A p.Ala326Thr p.A326T ENST00000392358 NM_212492.1 326 Gcc/Acc 0 -GPSM3 UCSF GRCh37 6 32159599 32159599 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 31 35 65 0 ENST00000375040.3:c.232G>A p.Glu78Lys p.E78K ENST00000375040 NM_001276501.1 78 Gag/Aag 0 -GPSM3 UCSF GRCh37 6 32159654 32159654 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 18 54 0 ENST00000375040.3:c.177C>T p.Ser59= p.S59= ENST00000375040 NM_001276501.1 59 tcC/tcT 0 -GPT UCSF GRCh37 8 145731405 145731405 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 20 57 0 ENST00000394955.2:c.847G>A p.Gly283Ser p.G283S ENST00000394955 NM_005309.2 283 Ggt/Agt 0 -GPX3 UCSF GRCh37 5 150406564 150406564 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 60 121 0 ENST00000388825.4:c.345C>T p.Ile115= p.I115= ENST00000388825 NM_002084.3 115 atC/atT 0 -GRAMD1B UCSF GRCh37 11 123489414 123489414 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 47 133 0 ENST00000529750.1:c.1915G>A p.Val639Ile p.V639I ENST00000529750 NM_020716.1 639 Gtc/Atc 0 -GREB1 UCSF GRCh37 2 11756768 11756768 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 122 112 206 0 ENST00000381486.2:c.3334G>A p.Glu1112Lys p.E1112K ENST00000381486 NM_014668.3 1112 Gag/Aag 0 -GREB1L UCSF GRCh37 18 18981246 18981246 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 68 152 0 ENST00000580732.2:c.668C>T p.Ser223Phe p.S223F ENST00000580732 223 tCc/tTc 0 -GREB1L UCSF GRCh37 18 19079801 19079801 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 54 91 0 ENST00000580732.2:c.3503G>A p.Gly1168Glu p.G1168E ENST00000580732 1168 gGg/gAg 0 -GREB1L UCSF GRCh37 18 19019504 19019504 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 72 155 0 ENST00000580732.2:c.855C>T p.Ser285= p.S285= ENST00000580732 285 agC/agT 0 -GRIA2 UCSF GRCh37 4 158262441 158262441 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 71 180 0 ENST00000296526.7:c.1870G>A p.Gly624Ser p.G624S ENST00000296526 NM_000826.3 624 Ggt/Agt 0 -GRID2 UCSF GRCh37 4 94693496 94693496 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 69 162 0 ENST00000282020.4:c.2871G>A p.Val957= p.V957= ENST00000282020 NM_001510.2 957 gtG/gtA 0 -GRIK2 UCSF GRCh37 6 102124666 102124666 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 44 124 0 ENST00000421544.1:c.710G>A p.Gly237Asp p.G237D ENST00000421544 NM_021956.4 237 gGc/gAc 0 -GRIK3 UCSF GRCh37 1 37271904 37271904 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 30 56 0 ENST00000373091.3:c.2115G>A p.Glu705= p.E705= ENST00000373091 NM_000831.3 705 gaG/gaA 0 -GRIN2B UCSF GRCh37 12 13716834 13716834 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 46 69 0 ENST00000609686.1:c.3338C>T p.Pro1113Leu p.P1113L ENST00000609686 NM_000834.3 1113 cCg/cTg 0 -GRIN2B UCSF GRCh37 12 14018739 14018739 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 110 221 0 ENST00000609686.1:c.404C>T p.Ala135Val p.A135V ENST00000609686 NM_000834.3 135 gCa/gTa 0 -GRIN2D UCSF GRCh37 19 48908291 48908291 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 32 40 0 ENST00000263269.3:c.766G>A p.Val256Met p.V256M ENST00000263269 NM_000836.2 256 Gtg/Atg 0 -GRIN3B UCSF GRCh37 19 1005335 1005335 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 54 100 0 ENST00000234389.3:c.1835C>T p.Thr612Ile p.T612I ENST00000234389 NM_138690.1 612 aCc/aTc 0 -GRINA UCSF GRCh37 8 145066899 145066899 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 161 27 60 0 ENST00000313269.5:c.1006C>T p.Gln336Ter p.Q336* ENST00000313269 NM_000837.1 336 Cag/Tag 0 -GRK5 UCSF GRCh37 10 121207635 121207635 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 57 102 0 ENST00000392870.2:c.1267C>T p.Leu423= p.L423= ENST00000392870 NM_005308.2 423 Ctg/Ttg 0 -GRM3 UCSF GRCh37 7 86394480 86394480 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 101 223 0 ENST00000361669.2:c.19C>T p.Leu7= p.L7= ENST00000361669 NM_000840.2 7 Ctg/Ttg 0 -GRM4 UCSF GRCh37 6 34008508 34008508 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 48 81 0 ENST00000538487.2:c.1186C>T p.Gln396Ter p.Q396* ENST00000538487 NM_000841.2 396 Cag/Tag 0 -GRWD1 UCSF GRCh37 19 48950053 48950053 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 36 78 0 ENST00000253237.5:c.421C>T p.Leu141= p.L141= ENST00000253237 NM_031485.3 141 Ctg/Ttg 0 -GRXCR1 UCSF GRCh37 4 42964927 42964927 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 143 109 220 0 ENST00000399770.2:c.403G>A p.Glu135Lys p.E135K ENST00000399770 NM_001080476.2 135 Gaa/Aaa 0 -GSTCD UCSF GRCh37 4 106766655 106766655 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 57 147 0 ENST00000515279.1:c.1823G>A p.Gly608Glu p.G608E ENST00000515279 608 gGa/gAa 0 -GSTM4 UCSF GRCh37 1 110200394 110200394 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 101 79 176 0 ENST00000369836.4:c.260G>A p.Cys87Tyr p.C87Y ENST00000369836 NM_000850.4 87 tGt/tAt 0 -GSTO1 UCSF GRCh37 10 106019413 106019413 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 65 145 0 ENST00000369713.5:c.223C>T p.Leu75= p.L75= ENST00000369713 NM_004832.2 75 Ctg/Ttg 0 -GSTT2 UCSF GRCh37 22 24323227 24323227 + splice_donor_variant Splice_Site SNP G G A 1000g2010nov_all_0.153,1000g2011may_all_0.2294,snp132_rs5996646 P10_Rec Untested WXS Illumina HiSeq 62 48 77 0 ENST00000215780.5:c.200+1G>A p.X67_splice ENST00000215780 NM_000854.3 0 -GTDC1 UCSF GRCh37 2 144709586 144709586 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 77 171 0 ENST00000392869.2:c.1256G>A p.Cys419Tyr p.C419Y ENST00000392869 NM_001284234.1 419 tGc/tAc 0 -GTF3C5 UCSF GRCh37 9 135931419 135931419 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 24 68 0 ENST00000372108.5:c.1209G>A p.Arg403= p.R403= ENST00000372108 NM_001122823.1 403 cgG/cgA 0 -GTPBP1 UCSF GRCh37 22 39123237 39123237 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 5 84 150 1 ENST00000216044.5:c.1421G>A p.Arg474Gln p.R474Q ENST00000216044 NM_004286.4 474 cGg/cAg 0 -GTPBP4 UCSF GRCh37 10 1046647 1046647 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 48 103 0 ENST00000360803.4:c.685C>T p.Pro229Ser p.P229S ENST00000360803 NM_012341.2 229 Cct/Tct 0 -GUK1 UCSF GRCh37 1 228336552 228336552 + stop_retained_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 8 21 0 ENST00000366728.2:c.725G>A p.Ter242= p.*242= ENST00000366728 NM_001242840.1 242 tGa/tAa 0 -GZMA UCSF GRCh37 5 54404211 54404211 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 50 147 0 ENST00000274306.6:c.616G>A p.Asp206Asn p.D206N ENST00000274306 NM_006144.3 206 Gac/Aac 0 -HADHB UCSF GRCh37 2 26508395 26508395 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 39 116 0 ENST00000317799.5:c.1345G>A p.Gly449Arg p.G449R ENST00000317799 NM_000183.2 449 Gga/Aga 0 -HAO1 UCSF GRCh37 20 7864306 7864306 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 45 133 0 ENST00000378789.3:c.1047C>T p.Cys349= p.C349= ENST00000378789 NM_017545.2 349 tgC/tgT 0 -HARS2 UCSF GRCh37 5 140076985 140076985 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 53 105 0 ENST00000230771.3:c.1191G>A p.Arg397= p.R397= ENST00000230771 NM_012208.3 397 agG/agA 0 -HAUS5 UCSF GRCh37 19 36104642 36104642 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 35 86 0 ENST00000203166.5:c.109G>A p.Gly37Ser p.G37S ENST00000203166 NM_015302.1 37 Ggc/Agc 0 -HBEGF UCSF GRCh37 5 139722342 139722342 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 121 124 238 0 ENST00000230990.6:c.276G>A p.Gly92= p.G92= ENST00000230990 NM_001945.2 92 ggG/ggA 0 -HCFC1 UCSF GRCh37 X 153215898 153215898 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 55 78 0 ENST00000310441.7:c.5800G>A p.Ala1934Thr p.A1934T ENST00000310441 NM_005334.2 1934 Gct/Act 0 -HCFC1 UCSF GRCh37 X 153228826 153228826 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 63 112 0 ENST00000310441.7:c.562G>A p.Asp188Asn p.D188N ENST00000310441 NM_005334.2 188 Gac/Aac 0 -HCFC1 UCSF GRCh37 X 153217516 153217516 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 10 18 0 ENST00000310441.7:c.5036C>T p.Ala1679Val p.A1679V ENST00000310441 NM_005334.2 1679 gCc/gTc 0 -HCRTR2 UCSF GRCh37 6 55142286 55142286 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 55 129 0 ENST00000370862.3:c.871G>A p.Ala291Thr p.A291T ENST00000370862 NM_001526.3 291 Gct/Act 0 -HDAC1 UCSF GRCh37 1 32793232 32793232 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 52 127 0 ENST00000373548.3:c.590C>T p.Ser197Phe p.S197F ENST00000373548 NM_004964.2 197 tCc/tTc 0 -HDAC2 UCSF GRCh37 6 114274491 114274491 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 108 186 0 ENST00000519065.1:c.589G>A p.Val197Ile p.V197I ENST00000519065 197 Gta/Ata 0 -HDAC4 UCSF GRCh37 2 240024572 240024572 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 33 65 0 ENST00000345617.3:c.2118C>T p.Ala706= p.A706= ENST00000345617 NM_006037.3 706 gcC/gcT 0 -HDAC7 UCSF GRCh37 12 48189160 48189160 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 15 28 0 ENST00000080059.7:c.1091C>T p.Pro364Leu p.P364L ENST00000080059 NM_015401.3 364 cCc/cTc 0 -HDLBP UCSF GRCh37 2 242179450 242179450 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 87 171 0 ENST00000391975.1:c.2257G>A p.Val753Met p.V753M ENST00000391975 NM_203346.3 753 Gtg/Atg 0 -HDX UCSF GRCh37 X 83599315 83599315 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 61 182 0 ENST00000297977.5:c.1603G>A p.Glu535Lys p.E535K ENST00000297977 NM_001177479.1 535 Gag/Aag 0 -HEATR8 UCSF GRCh37 1 55166075 55166075 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 33 52 0 ENST00000414150.2:c.3046C>T p.Pro1016Ser p.P1016S ENST00000414150 1016 Ccc/Tcc 0 -HECA UCSF GRCh37 6 139488196 139488196 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 45 95 1 ENST00000367658.2:c.1047C>T p.Leu349= p.L349= ENST00000367658 NM_016217.2 349 ctC/ctT 0 -HECTD1 UCSF GRCh37 14 31578805 31578805 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 31 72 0 ENST00000399332.1:c.6279-1G>A p.X2093_splice ENST00000399332 NM_015382.2 0 -HECTD1 UCSF GRCh37 14 31617926 31617926 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 46 100 0 ENST00000399332.1:c.2496+1G>A p.X832_splice ENST00000399332 NM_015382.2 0 -HECTD1 UCSF GRCh37 14 31638597 31638597 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 83 208 0 ENST00000399332.1:c.1410G>A p.Arg470= p.R470= ENST00000399332 NM_015382.2 470 agG/agA 0 -HELQ UCSF GRCh37 4 84328662 84328662 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 39 90 0 ENST00000295488.3:c.3250C>T p.Leu1084= p.L1084= ENST00000295488 NM_133636.2 1084 Cta/Tta 0 -HEMGN UCSF GRCh37 9 100689682 100689682 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 143 69 156 0 ENST00000259456.3:c.1439G>A p.Ser480Asn p.S480N ENST00000259456 NM_018437.4 480 aGt/aAt 0 -HEPHL1 UCSF GRCh37 11 93845043 93845043 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 123 204 1 ENST00000315765.9:c.3463C>T p.Pro1155Ser p.P1155S ENST00000315765 NM_001098672.1 1155 Ccc/Tcc 0 -HEPN1 UCSF GRCh37 11 124789666 124789666 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 47 86 0 ENST00000408930.5:c.20G>A p.Gly7Glu p.G7E ENST00000408930 NM_001037558.2 7 gGa/gAa 0 -HERC1 UCSF GRCh37 15 64041674 64041674 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 68 162 0 ENST00000443617.2:c.2111G>A p.Gly704Asp p.G704D ENST00000443617 NM_003922.3 704 gGt/gAt 0 -HERC1 UCSF GRCh37 15 63948464 63948464 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 85 136 0 ENST00000443617.2:c.9693G>A p.Gly3231= p.G3231= ENST00000443617 NM_003922.3 3231 ggG/ggA 0 -HERC1 UCSF GRCh37 15 63915067 63915067 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 33 21 89 0 ENST00000443617.2:c.13635C>T p.Asp4545= p.D4545= ENST00000443617 NM_003922.3 4545 gaC/gaT 0 -HERC2 UCSF GRCh37 15 28467217 28467217 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 78 228 0 ENST00000261609.7:c.5609G>A p.Gly1870Glu p.G1870E ENST00000261609 NM_004667.5 1870 gGa/gAa 0 -HERC2 UCSF GRCh37 15 28389922 28389922 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 49 89 0 ENST00000261609.7:c.11037G>A p.Glu3679= p.E3679= ENST00000261609 NM_004667.5 3679 gaG/gaA 0 -HEXDC UCSF GRCh37 17 80393661 80393661 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 50 78 0 ENST00000337014.6:c.544G>A p.Ala182Thr p.A182T ENST00000337014 NM_173620.2 182 Gcc/Acc 0 -HEXDC UCSF GRCh37 17 80400336 80400336 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 41 81 0 ENST00000337014.6:c.1626G>A p.Arg542= p.R542= ENST00000337014 NM_173620.2 542 cgG/cgA 0 -HHAT UCSF GRCh37 1 210591662 210591662 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 54 137 0 ENST00000545154.1:c.852G>A p.Trp284Ter p.W284* ENST00000545154 NM_001170587.1 284 tgG/tgA 0 -HHIPL2 UCSF GRCh37 1 222717259 222717259 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 43 96 0 ENST00000343410.6:c.594C>T p.Ala198= p.A198= ENST00000343410 NM_024746.3 198 gcC/gcT 0 -HHLA1 UCSF GRCh37 8 133088376 133088376 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 23 38 0 ENST00000434736.2:c.1349G>A p.Gly450Asp p.G450D ENST00000434736 450 gGt/gAt 0 -HIBCH UCSF GRCh37 2 191125913 191125913 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 56 159 0 ENST00000359678.5:c.486G>A p.Lys162= p.K162= ENST00000359678 NM_198047.2 162 aaG/aaA 0 -HIF1A UCSF GRCh37 14 62194253 62194253 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 68 178 0 ENST00000539097.1:c.725C>T p.Thr242Ile p.T242I ENST00000539097 NM_001243084.1 242 aCc/aTc 0 -HIF3A UCSF GRCh37 19 46811518 46811518 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 40 136 0 ENST00000377670.4:c.404C>T p.Pro135Leu p.P135L ENST00000377670 NM_152795.3 135 cCc/cTc 0 -HIP1 UCSF GRCh37 7 75221383 75221383 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 79 151 0 ENST00000336926.6:c.375C>T p.Ser125= p.S125= ENST00000336926 NM_005338.6 125 agC/agT 0 -HIPK1 UCSF GRCh37 1 114499778 114499778 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 65 160 0 ENST00000369558.1:c.1625G>A p.Cys542Tyr p.C542Y ENST00000369558 542 tGc/tAc 0 -HIPK1 UCSF GRCh37 1 114499776 114499776 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 67 161 0 ENST00000369558.1:c.1623C>T p.Ile541= p.I541= ENST00000369558 541 atC/atT 0 -HIST1H2BC UCSF GRCh37 6 26123872 26123872 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 84 177 0 ENST00000314332.5:c.261C>T p.Arg87= p.R87= ENST00000314332 87 cgC/cgT 0 -HIVEP3 UCSF GRCh37 1 42047716 42047716 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 74 141 0 ENST00000372583.1:c.2753G>A p.Gly918Glu p.G918E ENST00000372583 NM_024503.4 918 gGg/gAg 0 -HJURP UCSF GRCh37 2 234750489 234750489 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 71 128 0 ENST00000411486.2:c.937G>A p.Ala313Thr p.A313T ENST00000411486 NM_018410.3 313 Gcc/Acc 0 -HJURP UCSF GRCh37 2 234754383 234754383 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 54 128 0 ENST00000411486.2:c.486G>A p.Glu162= p.E162= ENST00000411486 NM_018410.3 162 gaG/gaA 0 -HLA-G UCSF GRCh37 6 29795629 29795629 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 43 20 83 0 ENST00000428701.1:c.8T>C p.Val3Ala p.V3A ENST00000428701 NM_002127.5 3 gTc/gCc 0 -HMBS UCSF GRCh37 11 118963857 118963857 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 62 126 0 ENST00000278715.3:c.950G>A p.Gly317Asp p.G317D ENST00000278715 NM_000190.3 317 gGc/gAc 0 -HMCN1 UCSF GRCh37 1 186134277 186134277 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 52 118 0 ENST00000271588.4:c.15291C>T p.Thr5097= p.T5097= ENST00000271588 NM_031935.2 5097 acC/acT 0 -HMGCLL1 UCSF GRCh37 6 55360216 55360216 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 35 149 0 ENST00000398661.2:c.885+1G>A p.X295_splice ENST00000398661 NM_019036.2 0 -HMHA1 UCSF GRCh37 19 1083224 1083224 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 9 12 0 ENST00000539243.2:c.2875C>T p.Pro959Ser p.P959S ENST00000539243 NM_001258328.1 959 Ccc/Tcc 0 -HMX3 UCSF GRCh37 10 124896686 124896686 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 11 31 0 ENST00000357878.5:c.513C>T p.Ser171= p.S171= ENST00000357878 NM_001105574.1 171 agC/agT 0 -HNF4G UCSF GRCh37 8 76463725 76463725 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 45 101 0 ENST00000396423.2:c.455G>A p.Arg152His p.R152H ENST00000396423 NM_004133.4 152 cGc/cAc 0 -HNRNPA1 UCSF GRCh37 12 54678084 54678084 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 62 164 0 ENST00000340913.6:c.1106G>A p.Gly369Asp p.G369D ENST00000340913 NM_002136.2 369 gGc/gAc 0 -HNRNPU UCSF GRCh37 1 245026995 245026995 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 10 12 0 ENST00000283179.9:c.615G>A p.Gln205= p.Q205= ENST00000283179 205 caG/caA 0 -HNRNPUL2 UCSF GRCh37 11 62483026 62483026 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 64 137 0 ENST00000301785.5:c.2109G>A p.Gly703= p.G703= ENST00000301785 NM_001079559.2 703 ggG/ggA 0 -HNRNPUL2 UCSF GRCh37 11 62487502 62487502 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 84 144 0 ENST00000301785.5:c.1773G>A p.Glu591= p.E591= ENST00000301785 NM_001079559.2 591 gaG/gaA 0 -HOMEZ UCSF GRCh37 14 23745503 23745503 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 95 196 0 ENST00000357460.5:c.934G>A p.Val312Ile p.V312I ENST00000357460 NM_020834.2 312 Gtc/Atc 0 -HOMEZ UCSF GRCh37 14 23745147 23745147 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 116 105 176 0 ENST00000357460.5:c.1290C>T p.Phe430= p.F430= ENST00000357460 NM_020834.2 430 ttC/ttT 0 -HOXA5 UCSF GRCh37 7 27182773 27182773 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 29 63 0 ENST00000222726.3:c.454G>A p.Asp152Asn p.D152N ENST00000222726 NM_019102.3 152 Gac/Aac 0 -HOXB3 UCSF GRCh37 17 46627775 46627775 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 33 19 52 0 ENST00000470495.1:c.1217C>T p.Thr406Ile p.T406I ENST00000470495 406 aCc/aTc 0 -HOXC9 UCSF GRCh37 12 54396377 54396377 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 70 177 0 ENST00000303450.4:c.702G>A p.Arg234= p.R234= ENST00000303450 NM_006897.1 234 cgG/cgA 0 -HOXD12 UCSF GRCh37 2 176964675 176964675 + missense_variant Missense_Mutation SNP T T G NOVEL P10_Rec Untested WXS Illumina HiSeq 39 32 57 1 ENST00000406506.2:c.146T>G p.Leu49Arg p.L49R ENST00000406506 49 cTg/cGg 0 -HPCAL4 UCSF GRCh37 1 40149716 40149716 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 16 51 0 ENST00000372844.3:c.271G>A p.Val91Ile p.V91I ENST00000372844 NM_016257.2 91 Gtc/Atc 0 -HR UCSF GRCh37 8 21977951 21977951 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 48 78 0 ENST00000381418.4:c.2680C>T p.Leu894Phe p.L894F ENST00000381418 NM_005144.4 894 Ctt/Ttt 0 -HRC UCSF GRCh37 19 49656719 49656719 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 23 42 0 ENST00000252825.4:c.1776C>T p.Asp592= p.D592= ENST00000252825 NM_002152.2 592 gaC/gaT 0 -HRNR UCSF GRCh37 1 152185889 152185889 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 8 25 0 ENST00000368801.2:c.8216G>A p.Ser2739Asn p.S2739N ENST00000368801 NM_001009931.2 2739 aGc/aAc 0 -HRNR UCSF GRCh37 1 152191061 152191061 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 98 263 0 ENST00000368801.2:c.3044G>A p.Gly1015Glu p.G1015E ENST00000368801 NM_001009931.2 1015 gGg/gAg 0 -HRNR UCSF GRCh37 1 152188064 152188064 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 488 73 912 0 ENST00000368801.2:c.6041C>T p.Ser2014Phe p.S2014F ENST00000368801 NM_001009931.2 2014 tCt/tTt 0 -HRNR UCSF GRCh37 1 152193068 152193068 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 123 111 207 0 ENST00000368801.2:c.1037C>T p.Ser346Phe p.S346F ENST00000368801 NM_001009931.2 346 tCt/tTt 0 -HS3ST3A1 UCSF GRCh37 17 13400067 13400067 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 42 124 0 ENST00000284110.1:c.668G>A p.Arg223Gln p.R223Q ENST00000284110 NM_006042.1 223 cGg/cAg 0 -HS3ST3B1 UCSF GRCh37 17 14248413 14248413 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 1 38 46 0 ENST00000360954.2:c.623G>A p.Arg208Gln p.R208Q ENST00000360954 NM_006041.1 208 cGg/cAg 0 -HS3ST4 UCSF GRCh37 16 25704412 25704412 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 19 42 0 ENST00000331351.5:c.674C>T p.Ala225Val p.A225V ENST00000331351 NM_006040.2 225 gCg/gTg 0 -HSD11B2 UCSF GRCh37 16 67470844 67470844 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 26 72 0 ENST00000326152.5:c.1156C>T p.Pro386Ser p.P386S ENST00000326152 NM_000196.3 386 Cca/Tca 0 -HSDL1 UCSF GRCh37 16 84158330 84158330 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 41 84 0 ENST00000219439.4:c.898C>T p.Leu300Phe p.L300F ENST00000219439 NM_001146051.1 300 Ctt/Ttt 0 -HSF1 UCSF GRCh37 8 145533197 145533197 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 185 43 102 0 ENST00000528838.1:c.283G>A p.Asp95Asn p.D95N ENST00000528838 NM_005526.2 95 Gac/Aac 0 -HSPA14 UCSF GRCh37 10 14890607 14890607 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 37 108 0 ENST00000378372.3:c.222-1G>A p.X74_splice ENST00000378372 NM_016299.3 0 -HSPA1A UCSF GRCh37 6 31783580 31783580 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 34 87 0 ENST00000375651.5:c.47C>T p.Ser16Phe p.S16F ENST00000375651 NM_005345.5 16 tCc/tTc 0 -HSPA5 UCSF GRCh37 9 128001393 128001393 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 168 72 146 0 ENST00000324460.6:c.823G>A p.Gly275Ser p.G275S ENST00000324460 NM_005347.4 275 Ggc/Agc 0 -HSPA5 UCSF GRCh37 9 128001379 128001379 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 156 77 144 0 ENST00000324460.6:c.837G>A p.Arg279= p.R279= ENST00000324460 NM_005347.4 279 agG/agA 0 -HSPG2 UCSF GRCh37 1 22206914 22206914 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 32 54 0 ENST00000374695.3:c.2137G>A p.Asp713Asn p.D713N ENST00000374695 NM_005529.5 713 Gat/Aat 0 -HSPG2 UCSF GRCh37 1 22202774 22202774 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 20 9 23 0 ENST00000374695.3:c.2951T>C p.Leu984Pro p.L984P ENST00000374695 NM_005529.5 984 cTc/cCc 0 -HTATSF1 UCSF GRCh37 X 135592333 135592333 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 117 243 0 ENST00000535601.1:c.1017C>T p.Gly339= p.G339= ENST00000535601 NM_001163280.1 339 ggC/ggT 0 -HTR3A UCSF GRCh37 11 113853846 113853846 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 62 152 0 ENST00000355556.2:c.397G>A p.Asp133Asn p.D133N ENST00000355556 NM_213621.3 133 Gat/Aat 0 -HTRA1 UCSF GRCh37 10 124248504 124248504 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 54 132 0 ENST00000368984.3:c.559G>A p.Glu187Lys p.E187K ENST00000368984 NM_002775.4 187 Gaa/Aaa 0 -HTT UCSF GRCh37 4 3144503 3144503 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 84 141 0 ENST00000355072.5:c.2956G>A p.Gly986Ser p.G986S ENST00000355072 NM_002111.6 986 Ggc/Agc 0 -HUWE1 UCSF GRCh37 X 53591615 53591615 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 59 133 0 ENST00000342160.3:c.6949G>A p.Asp2317Asn p.D2317N ENST00000342160 2317 Gat/Aat 0 -HUWE1 UCSF GRCh37 X 53563380 53563380 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 66 231 0 ENST00000342160.3:c.12386C>T p.Thr4129Ile p.T4129I ENST00000342160 4129 aCt/aTt 0 -HUWE1 UCSF GRCh37 X 53566032 53566032 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 18 52 0 ENST00000342160.3:c.11642C>T p.Pro3881Leu p.P3881L ENST00000342160 3881 cCt/cTt 0 -HYAL2 UCSF GRCh37 3 50357097 50357097 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 4 34 53 0 ENST00000447092.1:c.824C>T p.Ala275Val p.A275V ENST00000447092 275 gCc/gTc 0 -HYDIN UCSF GRCh37 16 70989284 70989284 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 211 69 265 0 ENST00000393567.2:c.6310G>A p.Glu2104Lys p.E2104K ENST00000393567 NM_001270974.1 2104 Gag/Aag 0 -HYDIN UCSF GRCh37 16 71061635 71061635 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 196 56 254 0 ENST00000393567.2:c.2912C>T p.Pro971Leu p.P971L ENST00000393567 NM_001270974.1 971 cCc/cTc 0 -HYOU1 UCSF GRCh37 11 118924874 118924874 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 70 143 0 ENST00000404233.3:c.753G>A p.Lys251= p.K251= ENST00000404233 NM_001130991.1 251 aaG/aaA 0 -IARS2 UCSF GRCh37 1 220300096 220300096 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 67 146 0 ENST00000302637.5:c.1748G>A p.Gly583Asp p.G583D ENST00000302637 NM_018060.3 583 gGt/gAt 0 -IBA57 UCSF GRCh37 1 228363087 228363087 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 59 130 0 ENST00000366711.3:c.944G>A p.Gly315Asp p.G315D ENST00000366711 NM_001010867.2 315 gGc/gAc 0 -IBTK UCSF GRCh37 6 82935319 82935319 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 62 143 2 ENST00000306270.7:c.700G>A p.Val234Met p.V234M ENST00000306270 NM_015525.2 234 Gtg/Atg 0 -ICAM1 UCSF GRCh37 19 10395520 10395520 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 39 81 0 ENST00000264832.3:c.1242G>A p.Gln414= p.Q414= ENST00000264832 NM_000201.2 414 caG/caA 0 -ICAM2 UCSF GRCh37 17 62082531 62082531 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 50 100 0 ENST00000412356.1:c.264C>T p.Val88= p.V88= ENST00000412356 NM_001099786.1 88 gtC/gtT 0 -ICAM3 UCSF GRCh37 19 10445447 10445447 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 32 84 0 ENST00000160262.5:c.949C>T p.Pro317Ser p.P317S ENST00000160262 NM_002162.3 317 Ccc/Tcc 0 -ICMT UCSF GRCh37 1 6292032 6292032 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 64 154 0 ENST00000343813.5:c.602C>T p.Thr201Ile p.T201I ENST00000343813 NM_012405.3 201 aCc/aTc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 79 72 125 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IDO1 UCSF GRCh37 8 39775667 39775667 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 133 112 192 0 ENST00000518237.1:c.244G>A p.Val82Ile p.V82I ENST00000518237 NM_002164.5 82 Gtt/Att 0 -IFFO2 UCSF GRCh37 1 19235148 19235148 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 31 85 0 ENST00000455833.2:c.1461C>T p.Ser487= p.S487= ENST00000455833 NM_001136265.1 487 tcC/tcT 0 -IFI27L1 UCSF GRCh37 14 94568225 94568225 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 35 68 0 ENST00000555523.1:c.127G>A p.Ala43Thr p.A43T ENST00000555523 NM_206949.2 43 Gca/Aca 0 -IFIH1 UCSF GRCh37 2 163144827 163144827 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 56 119 0 ENST00000263642.2:c.913G>A p.Glu305Lys p.E305K ENST00000263642 NM_022168.3 305 Gaa/Aaa 0 -IFIT3 UCSF GRCh37 10 91098440 91098440 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 47 131 1 ENST00000371818.4:c.28G>A p.Glu10Lys p.E10K ENST00000371818 NM_001549.4 10 Gag/Aag 0 -IFITM1 UCSF GRCh37 11 314971 314971 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 44 132 0 ENST00000408968.3:c.236C>T p.Ala79Val p.A79V ENST00000408968 NM_003641.3 79 gCc/gTc 0 -IFNAR2 UCSF GRCh37 21 34635734 34635734 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 96 166 0 ENST00000342136.4:c.1477G>A p.Asp493Asn p.D493N ENST00000342136 493 Gat/Aat 0 -IFNGR1 UCSF GRCh37 6 137519586 137519586 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 60 156 0 ENST00000367739.4:c.1052G>A p.Ser351Asn p.S351N ENST00000367739 NM_000416.2 351 aGt/aAt 0 -IFT122 UCSF GRCh37 3 129202342 129202342 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 52 117 0 ENST00000296266.3:c.1821C>T p.Asn607= p.N607= ENST00000296266 NM_052985.3 607 aaC/aaT 0 -IFT140 UCSF GRCh37 16 1614105 1614105 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 38 99 0 ENST00000426508.2:c.1960G>A p.Asp654Asn p.D654N ENST00000426508 NM_014714.3 654 Gac/Aac 0 -IFT172 UCSF GRCh37 2 27677249 27677249 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 79 152 0 ENST00000260570.3:c.3502G>A p.Ala1168Thr p.A1168T ENST00000260570 NM_015662.1 1168 Gct/Act 0 -IGSF6 UCSF GRCh37 16 21658659 21658659 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 70 133 0 ENST00000268389.4:c.222G>A p.Gln74= p.Q74= ENST00000268389 NM_005849.3 74 caG/caA 0 -IGSF8 UCSF GRCh37 1 160065004 160065004 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 35 63 0 ENST00000368086.1:c.97C>T p.Pro33Ser p.P33S ENST00000368086 33 Ccc/Tcc 0 -IKBKE UCSF GRCh37 1 206664992 206664992 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 50 109 0 ENST00000367120.3:c.1745G>A p.Ser582Asn p.S582N ENST00000367120 NM_014002.3 582 aGt/aAt 0 -IKBKG UCSF GRCh37 X 153780245 153780245 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 83 170 0 ENST00000369609.5:c.232C>T p.Leu78= p.L78= ENST00000369609 NM_001099856.2 78 Ctg/Ttg 0 -IKZF5 UCSF GRCh37 10 124753348 124753349 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 0 ENST00000368886.5:c.1208dup p.Asn403LysfsTer4 p.N403Kfs*4 ENST00000368886 NM_001271840.1 403 aac/aAac 0 -IL11RA UCSF GRCh37 9 34657129 34657129 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 75 122 0 ENST00000555003.1:c.429C>T p.Arg143= p.R143= ENST00000555003 143 cgC/cgT 0 -IL12RB2 UCSF GRCh37 1 67794023 67794023 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 101 123 212 0 ENST00000262345.1:c.620G>A p.Gly207Glu p.G207E ENST00000262345 NM_001559.2 207 gGa/gAa 0 -IL17RC UCSF GRCh37 3 9974353 9974353 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 43 103 1 ENST00000295981.3:c.1662C>T p.Ser554= p.S554= ENST00000295981 NM_153461.3 554 tcC/tcT 0 -IL17RD UCSF GRCh37 3 57136581 57136581 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 55 94 0 ENST00000296318.7:c.905C>T p.Ala302Val p.A302V ENST00000296318 NM_017563.3 302 gCc/gTc 0 -IL18RAP UCSF GRCh37 2 103068538 103068538 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 100 239 0 ENST00000264260.2:c.1697G>A p.Gly566Glu p.G566E ENST00000264260 NM_003853.2 566 gGa/gAa 0 -IL1A UCSF GRCh37 2 113537213 113537213 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 66 142 0 ENST00000263339.3:c.350G>A p.Ser117Asn p.S117N ENST00000263339 NM_000575.3 117 aGc/aAc 0 -IL1RAP UCSF GRCh37 3 190326971 190326971 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 46 113 0 ENST00000317757.3:c.537+1G>A p.X179_splice ENST00000317757 NM_001167931.1 0 -IL1RAPL2 UCSF GRCh37 X 104993017 104993017 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 87 77 180 0 ENST00000372582.1:c.1113G>A p.Leu371= p.L371= ENST00000372582 NM_017416.1 371 ctG/ctA 0 -IL1RL2 UCSF GRCh37 2 102804367 102804367 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 38 73 0 ENST00000264257.2:c.40C>T p.Pro14Ser p.P14S ENST00000264257 NM_003854.2 14 Cca/Tca 0 -IL21R UCSF GRCh37 16 27448847 27448847 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 53 85 0 ENST00000337929.3:c.191C>T p.Ser64Phe p.S64F ENST00000337929 NM_181078.2 64 tCc/tTc 0 -IL21R UCSF GRCh37 16 27457348 27457348 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 20 61 0 ENST00000337929.3:c.806C>T p.Ala269Val p.A269V ENST00000337929 NM_181078.2 269 gCc/gTc 0 -IL21R UCSF GRCh37 16 27460404 27460404 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 42 57 0 ENST00000337929.3:c.1417G>A p.Val473Ile p.V473I ENST00000337929 NM_181078.2 473 Gtc/Atc 0 -IL23R UCSF GRCh37 1 67724311 67724311 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 101 206 0 ENST00000347310.5:c.1390C>T p.Pro464Ser p.P464S ENST00000347310 NM_144701.2 464 Ccg/Tcg 0 -IL24 UCSF GRCh37 1 207072856 207072856 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 46 112 0 ENST00000391929.3:c.239C>T p.Thr80Ile p.T80I ENST00000391929 80 aCt/aTt 0 -IL29 UCSF GRCh37 19 39787105 39787105 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 51 101 0 ENST00000333625.2:c.44G>A p.Gly15Asp p.G15D ENST00000333625 NM_172140.1 15 gGc/gAc 0 -IL2RG UCSF GRCh37 X 70330757 70330757 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 10 56 0 ENST00000374202.2:c.259C>T p.Leu87= p.L87= ENST00000374202 NM_000206.2 87 Ctg/Ttg 0 -IL4R UCSF GRCh37 16 27374306 27374306 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 65 100 0 ENST00000395762.2:c.1633C>T p.Pro545Ser p.P545S ENST00000395762 NM_000418.3 545 Cct/Tct 0 -ILDR1 UCSF GRCh37 3 121713086 121713086 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 34 56 0 ENST00000344209.5:c.721G>A p.Gly241Arg p.G241R ENST00000344209 NM_001199799.1 241 Ggg/Agg 0 -ILF3 UCSF GRCh37 19 10781781 10781781 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 33 76 0 ENST00000449870.1:c.135G>A p.Val45= p.V45= ENST00000449870 NM_017620.2 45 gtG/gtA 0 -IMP5 UCSF GRCh37 17 43923859 43923859 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 41 106 0 ENST00000329196.5:c.1587G>A p.Gln529= p.Q529= ENST00000329196 NM_175882.2 529 caG/caA 0 -INADL UCSF GRCh37 1 62579725 62579725 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 39 89 0 ENST00000371158.2:c.4462G>A p.Val1488Ile p.V1488I ENST00000371158 NM_176877.2 1488 Gtt/Att 0 -ING1 UCSF GRCh37 13 111371609 111371609 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 4 32 86 0 ENST00000375774.3:c.599G>A p.Arg200His p.R200H ENST00000375774 NM_005537.4 200 cGc/cAc 0 -INPP4A UCSF GRCh37 2 99152264 99152264 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 133 108 231 0 ENST00000074304.5:c.343G>A p.Val115Ile p.V115I ENST00000074304 NM_001134224.1 115 Gtc/Atc 0 -INPP5E UCSF GRCh37 9 139333207 139333207 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 11 29 0 ENST00000371712.3:c.665G>A p.Arg222His p.R222H ENST00000371712 NM_019892.4 222 cGc/cAc 0 -INSR UCSF GRCh37 19 7117094 7117094 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 80 149 0 ENST00000302850.5:c.4122G>A p.Leu1374= p.L1374= ENST00000302850 NM_000208.2 1374 ctG/ctA 0 -INSRR UCSF GRCh37 1 156814407 156814407 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 49 85 0 ENST00000368195.3:c.2584G>A p.Val862Met p.V862M ENST00000368195 NM_014215.2 862 Gtg/Atg 0 -INTS10 UCSF GRCh37 8 19703296 19703296 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 43 87 0 ENST00000397977.3:c.1964G>A p.Gly655Glu p.G655E ENST00000397977 NM_018142.2 655 gGa/gAa 0 -INTS3 UCSF GRCh37 1 153745692 153745692 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 130 107 211 0 ENST00000318967.2:c.3075G>A p.Lys1025= p.K1025= ENST00000318967 NM_023015.3 1025 aaG/aaA 0 -INTS5 UCSF GRCh37 11 62416972 62416972 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 76 123 0 ENST00000330574.2:c.580G>A p.Val194Met p.V194M ENST00000330574 NM_030628.1 194 Gtg/Atg 0 -INTS7 UCSF GRCh37 1 212180717 212180717 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 55 121 0 ENST00000366994.3:c.631G>A p.Ala211Thr p.A211T ENST00000366994 NM_001199811.1 211 Gct/Act 0 -INTS8 UCSF GRCh37 8 95877891 95877891 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 404 109 238 0 ENST00000523731.1:c.2234G>A p.Arg745Lys p.R745K ENST00000523731 NM_017864.3 745 aGg/aAg 0 -INTU UCSF GRCh37 4 128565143 128565143 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 83 176 0 ENST00000335251.6:c.614G>A p.Gly205Glu p.G205E ENST00000335251 NM_015693.3 205 gGa/gAa 0 -INTU UCSF GRCh37 4 128564907 128564907 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 99 78 178 0 ENST00000335251.6:c.378G>A p.Lys126= p.K126= ENST00000335251 NM_015693.3 126 aaG/aaA 0 -INTU UCSF GRCh37 4 128628070 128628070 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 124 101 230 0 ENST00000335251.6:c.2217G>A p.Lys739= p.K739= ENST00000335251 NM_015693.3 739 aaG/aaA 0 -IP6K3 UCSF GRCh37 6 33695944 33695944 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 39 47 0 ENST00000451316.1:c.333G>A p.Gln111= p.Q111= ENST00000451316 NM_001142883.1 111 caG/caA 0 -IPCEF1 UCSF GRCh37 6 154533945 154533945 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 23 85 0 ENST00000422970.2:c.496G>A p.Glu166Lys p.E166K ENST00000422970 NM_001130699.1 166 Gag/Aag 0 -IPO8 UCSF GRCh37 12 30787141 30787141 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 69 163 0 ENST00000256079.4:c.2775G>A p.Glu925= p.E925= ENST00000256079 NM_006390.3 925 gaG/gaA 0 -IQCH UCSF GRCh37 15 67636400 67636400 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 52 125 0 ENST00000335894.4:c.509-1G>A p.X170_splice ENST00000335894 NM_001031715.2 0 -IQGAP1 UCSF GRCh37 15 91017362 91017362 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 47 114 0 ENST00000268182.5:c.2572C>T p.Leu858Phe p.L858F ENST00000268182 NM_003870.3 858 Ctc/Ttc 0 -IQGAP1 UCSF GRCh37 15 91017182 91017182 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 68 173 0 ENST00000268182.5:c.2488C>T p.Gln830Ter p.Q830* ENST00000268182 NM_003870.3 830 Cag/Tag 0 -IQSEC2 UCSF GRCh37 X 53279582 53279582 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 45 96 0 ENST00000396435.3:c.2176G>A p.Ala726Thr p.A726T ENST00000396435 NM_001111125.2 726 Gct/Act 0 -IQSEC2 UCSF GRCh37 X 53279927 53279927 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 14 26 0 ENST00000396435.3:c.1831G>A p.Asp611Asn p.D611N ENST00000396435 NM_001111125.2 611 Gat/Aat 0 -IRF5 UCSF GRCh37 7 128588798 128588798 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 57 115 0 ENST00000357234.5:c.1471G>A p.Ala491Thr p.A491T ENST00000357234 491 Gcc/Acc 0 -IRS1 UCSF GRCh37 2 227663202 227663202 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 73 121 0 ENST00000305123.5:c.253G>A p.Ala85Thr p.A85T ENST00000305123 NM_005544.2 85 Gct/Act 0 -IRX3 UCSF GRCh37 16 54319241 54319241 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 52 89 0 ENST00000329734.3:c.552C>T p.Arg184= p.R184= ENST00000329734 NM_024336.2 184 cgC/cgT 0 -ISLR UCSF GRCh37 15 74468085 74468085 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 42 87 0 ENST00000249842.3:c.886C>T p.Pro296Ser p.P296S ENST00000249842 NM_005545.3 296 Cct/Tct 0 -ITGA2 UCSF GRCh37 5 52377511 52377511 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 31 70 0 ENST00000296585.5:c.3129G>A p.Arg1043= p.R1043= ENST00000296585 NM_002203.3 1043 agG/agA 0 -ITGA2B UCSF GRCh37 17 42466653 42466653 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 99 195 0 ENST00000262407.5:c.188+1G>A p.X63_splice ENST00000262407 NM_000419.3 0 -ITGA6 UCSF GRCh37 2 173338860 173338860 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 41 112 0 ENST00000409080.1:c.853C>T p.His285Tyr p.H285Y ENST00000409080 NM_001079818.1 285 Cac/Tac 0 -ITGA6 UCSF GRCh37 2 173292620 173292620 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 13 45 0 ENST00000409080.1:c.104G>A p.Arg35Gln p.R35Q ENST00000409080 NM_001079818.1 35 cGg/cAg 0 -ITGA8 UCSF GRCh37 10 15573138 15573138 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 130 67 140 0 ENST00000378076.3:c.2893C>T p.Pro965Ser p.P965S ENST00000378076 NM_003638.1 965 Ccc/Tcc 0 -ITGAD UCSF GRCh37 16 31409192 31409192 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 8 26 1 ENST00000389202.2:c.389G>A p.Arg130His p.R130H ENST00000389202 NM_005353.2 130 cGc/cAc 0 -ITGB3 UCSF GRCh37 17 45376743 45376743 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 54 108 0 ENST00000559488.1:c.1760C>T p.Thr587Ile p.T587I ENST00000559488 NM_000212.2 587 aCc/aTc 0 -ITGB3 UCSF GRCh37 17 45369919 45369919 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 55 130 0 ENST00000559488.1:c.1675G>A p.Gly559Arg p.G559R ENST00000559488 NM_000212.2 559 Ggg/Agg 0 -ITIH5 UCSF GRCh37 10 7683969 7683969 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 199 92 185 0 ENST00000256861.6:c.220C>T p.Leu74= p.L74= ENST00000256861 NM_030569.6 74 Ctg/Ttg 0 -ITPK1 UCSF GRCh37 14 93418312 93418312 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 8 17 0 ENST00000267615.6:c.717G>A p.Glu239= p.E239= ENST00000267615 239 gaG/gaA 0 -ITPR1 UCSF GRCh37 3 4725105 4725105 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 140 106 227 0 ENST00000302640.8:c.3152G>A p.Gly1051Asp p.G1051D ENST00000302640 NM_001168272.1 1051 gGc/gAc 0 -ITPR2 UCSF GRCh37 12 26775262 26775262 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 46 116 0 ENST00000381340.3:c.3199C>T p.His1067Tyr p.H1067Y ENST00000381340 NM_002223.2 1067 Cac/Tac 0 -ITPR3 UCSF GRCh37 6 33639817 33639817 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 38 106 0 ENST00000374316.5:c.2740C>T p.Arg914Trp p.R914W ENST00000374316 914 Cgg/Tgg 0 -ITPR3 UCSF GRCh37 6 33646227 33646227 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 21 64 0 ENST00000374316.5:c.3678C>T p.Arg1226= p.R1226= ENST00000374316 1226 cgC/cgT 0 -ITPRIP UCSF GRCh37 10 106074458 106074458 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 37 86 0 ENST00000278071.2:c.1352C>T p.Ala451Val p.A451V ENST00000278071 NM_033397.3 451 gCg/gTg 0 -ITPRIPL1 UCSF GRCh37 2 96993035 96993035 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 54 125 0 ENST00000361124.4:c.690C>T p.Ala230= p.A230= ENST00000361124 NM_178495.5 230 gcC/gcT 0 -IVNS1ABP UCSF GRCh37 1 185276206 185276206 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 59 163 0 ENST00000367498.3:c.597C>T p.Ile199= p.I199= ENST00000367498 NM_006469.4 199 atC/atT 0 -JHDM1D UCSF GRCh37 7 139829311 139829311 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 64 133 0 ENST00000397560.2:c.541G>A p.Asp181Asn p.D181N ENST00000397560 NM_030647.1 181 Gat/Aat 0 -JMJD1C UCSF GRCh37 10 64974231 64974231 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 83 159 0 ENST00000399262.2:c.1696G>A p.Val566Ile p.V566I ENST00000399262 NM_032776.1 566 Gtc/Atc 0 -JPH2 UCSF GRCh37 20 42744429 42744429 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 20 56 0 ENST00000372980.3:c.1886C>T p.Pro629Leu p.P629L ENST00000372980 NM_020433.4 629 cCc/cTc 0 -JPH3 UCSF GRCh37 16 87677922 87677922 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 11 84 0 ENST00000284262.2:c.441C>T p.Ser147= p.S147= ENST00000284262 NM_020655.3 147 agC/agT 0 -JRK UCSF GRCh37 8 143740347 143740347 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 20 64 0 ENST00000507178.2:n.7464G>A *2488* ENST00000507178 0 -KALRN UCSF GRCh37 3 124418823 124418823 + upstream_gene_variant 5'Flank SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 85 200 0 ENST00000584173 0 -KALRN UCSF GRCh37 3 124117637 124117637 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 64 131 0 ENST00000240874.3:c.2259G>A p.Gln753= p.Q753= ENST00000240874 NM_003947.4 753 caG/caA 0 -KANK3 UCSF GRCh37 19 8398051 8398051 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 10 29 0 ENST00000330915.3:c.1783G>A p.Glu595Lys p.E595K ENST00000330915 NM_198471.2 595 Gag/Aag 0 -KBTBD4 UCSF GRCh37 11 47598997 47598997 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 76 149 0 ENST00000430070.2:c.603C>T p.His201= p.H201= ENST00000430070 NM_018095.4 201 caC/caT 0 -KCNA3 UCSF GRCh37 1 111216551 111216551 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 47 118 0 ENST00000369769.2:c.881C>T p.Pro294Leu p.P294L ENST00000369769 NM_002232.3 294 cCc/cTc 0 -KCNC1 UCSF GRCh37 11 17757750 17757750 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 27 70 0 ENST00000265969.6:c.201C>T p.Ile67= p.I67= ENST00000265969 NM_001112741.1 67 atC/atT 0 -KCNH4 UCSF GRCh37 17 40318550 40318550 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 34 83 0 ENST00000264661.3:c.1605C>T p.Phe535= p.F535= ENST00000264661 NM_012285.2 535 ttC/ttT 0 -KCNH5 UCSF GRCh37 14 63246594 63246594 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 58 116 0 ENST00000322893.7:c.1871C>T p.Ala624Val p.A624V ENST00000322893 NM_139318.4 624 gCc/gTc 0 -KCNH7 UCSF GRCh37 2 163291967 163291967 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 93 183 0 ENST00000332142.5:c.1695G>A p.Trp565Ter p.W565* ENST00000332142 NM_033272.3 565 tgG/tgA 0 -KCNJ12 UCSF GRCh37 17 21319253 21319253 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 31 108 0 ENST00000583088.1:c.599C>T p.Ala200Val p.A200V ENST00000583088 NM_021012.4 200 gCc/gTc 0 -KCNJ15 UCSF GRCh37 21 39671694 39671694 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 61 118 0 ENST00000328656.4:c.511C>T p.Pro171Ser p.P171S ENST00000328656 NM_002243.4 171 Ccc/Tcc 0 -KCNK16 UCSF GRCh37 6 39285631 39285631 + synonymous_variant Silent SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 22 28 59 0 ENST00000425054.2:c.426C>T p.His142= p.H142= ENST00000425054 NM_001135105.1 142 caC/caT 0 -KCNK16 UCSF GRCh37 6 39282934 39282934 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 47 89 0 ENST00000425054.2:c.935C>T p.Ala312Val p.A312V ENST00000425054 NM_001135105.1 312 gCt/gTt 0 -KCNN1 UCSF GRCh37 19 18084790 18084790 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 16 25 0 ENST00000222249.9:c.93C>T p.Gly31= p.G31= ENST00000222249 NM_002248.4 31 ggC/ggT 0 -KCNN3 UCSF GRCh37 1 154842381 154842381 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 12 24 0 ENST00000271915.4:c.60G>A p.Lys20= p.K20= ENST00000271915 NM_001204087.1 20 aaG/aaA 0 -KCNN4 UCSF GRCh37 19 44278504 44278504 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 10 20 0 ENST00000262888.3:c.523C>T p.Leu175Phe p.L175F ENST00000262888 NM_002250.2 175 Ctc/Ttc 0 -KCNQ1 UCSF GRCh37 11 2591913 2591913 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 0 27 53 0 ENST00000155840.5:c.533C>T p.Ala178Val p.A178V ENST00000155840 NM_000218.2 178 gCc/gTc 0 -KCNQ3 UCSF GRCh37 8 133182671 133182671 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 159 30 102 0 ENST00000388996.4:c.1145C>T p.Ala382Val p.A382V ENST00000388996 NM_004519.3 382 gCc/gTc 0 -KCNQ4 UCSF GRCh37 1 41298711 41298711 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 47 100 1 ENST00000347132.5:c.1539G>A p.Glu513= p.E513= ENST00000347132 NM_004700.3 513 gaG/gaA 0 -KCNS1 UCSF GRCh37 20 43726423 43726423 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 17 44 0 ENST00000306117.1:c.990C>T p.Gly330= p.G330= ENST00000306117 NM_002251.3 330 ggC/ggT 0 -KCNS3 UCSF GRCh37 2 18112819 18112819 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 58 142 0 ENST00000403915.1:c.544C>T p.Leu182= p.L182= ENST00000403915 NM_001282428.1 182 Ctg/Ttg 0 -KCNT1 UCSF GRCh37 9 138646990 138646990 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 15 38 0 ENST00000371757.2:c.515G>A p.Arg172Lys p.R172K ENST00000371757 NM_020822.2 172 aGa/aAa 0 -KCNV1 UCSF GRCh37 8 110980478 110980478 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 198 68 161 0 ENST00000524391.1:c.1342C>T p.Arg448Cys p.R448C ENST00000524391 448 Cgt/Tgt 0 -KCNV2 UCSF GRCh37 9 2717784 2717784 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 50 109 0 ENST00000382082.3:c.45C>T p.Pro15= p.P15= ENST00000382082 NM_133497.3 15 ccC/ccT 0 -KCTD9 UCSF GRCh37 8 25303750 25303750 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 86 157 1 ENST00000221200.4:c.65G>A p.Gly22Glu p.G22E ENST00000221200 NM_017634.3 22 gGa/gAa 0 -KDM5A UCSF GRCh37 12 430192 430192 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 106 204 0 ENST00000399788.2:c.2510C>T p.Pro837Leu p.P837L ENST00000399788 NM_001042603.1 837 cCg/cTg 0 -KDM5A UCSF GRCh37 12 443525 443525 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 130 89 233 0 ENST00000399788.2:c.1372C>T p.His458Tyr p.H458Y ENST00000399788 NM_001042603.1 458 Cat/Tat 0 -KDM5C UCSF GRCh37 X 53222334 53222334 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 25 45 0 ENST00000375401.3:c.4498G>A p.Glu1500Lys p.E1500K ENST00000375401 NM_004187.3 1500 Gag/Aag 0 -BLTP2 UCSF GRCh37 17 26965374 26965374 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 61 123 0 ENST00000528896.2:c.1408C>T p.Leu470Phe p.L470F ENST00000528896 NM_014680.3 470 Ctc/Ttc 0 -BLTP2 UCSF GRCh37 17 26948142 26948142 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 68 159 0 ENST00000528896.2:c.5106G>A p.Arg1702= p.R1702= ENST00000528896 NM_014680.3 1702 cgG/cgA 0 -KIAA0182 UCSF GRCh37 16 85687940 85687940 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 16 45 0 ENST00000253458.7:c.483G>A p.Pro161= p.P161= ENST00000253458 NM_014615.3 161 ccG/ccA 0 -KIAA0247 UCSF GRCh37 14 70175407 70175407 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 51 108 0 ENST00000342745.4:c.472G>A p.Val158Ile p.V158I ENST00000342745 NM_014734.3 158 Gta/Ata 0 -KIAA0415 UCSF GRCh37 7 4827833 4827833 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 8 13 0 ENST00000348624.4:c.1503G>A p.Arg501= p.R501= ENST00000348624 NM_014855.2 501 agG/agA 0 -KIAA0907 UCSF GRCh37 1 155884103 155884103 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 36 69 0 ENST00000368321.3:c.1654G>A p.Ala552Thr p.A552T ENST00000368321 NM_014949.2 552 Gcc/Acc 0 -KIAA0922 UCSF GRCh37 4 154512343 154512343 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 68 167 0 ENST00000409959.3:c.1809G>A p.Arg603= p.R603= ENST00000409959 NM_001131007.1 603 agG/agA 0 -KIAA0947 UCSF GRCh37 5 5443358 5443358 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 21 83 0 ENST00000296564.7:c.386+1G>A p.X129_splice ENST00000296564 NM_015325.2 0 -KIAA0947 UCSF GRCh37 5 5461667 5461667 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 142 128 226 0 ENST00000296564.7:c.2220G>A p.Arg740= p.R740= ENST00000296564 NM_015325.2 740 cgG/cgA 0 -KIAA1024 UCSF GRCh37 15 79750717 79750717 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 84 160 0 ENST00000305428.3:c.2228G>A p.Gly743Asp p.G743D ENST00000305428 NM_015206.2 743 gGc/gAc 0 -BTBD8 UCSF GRCh37 1 92646067 92646067 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 72 186 0 ENST00000370378.4:c.1513C>T p.Pro505Ser p.P505S ENST00000370378 NM_015237.2 505 Cct/Tct 0 -KIAA1161 UCSF GRCh37 9 34372612 34372612 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 16 25 0 ENST00000297625.7:c.228C>T p.Val76= p.V76= ENST00000297625 NM_020702.3 76 gtC/gtT 0 -KIAA1210 UCSF GRCh37 X 118220604 118220604 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 113 189 0 ENST00000402510.2:c.4589G>A p.Gly1530Glu p.G1530E ENST00000402510 NM_020721.1 1530 gGg/gAg 0 -KIAA1217 UCSF GRCh37 10 24508627 24508627 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 54 148 0 ENST00000376454.3:c.143C>T p.Ser48Phe p.S48F ENST00000376454 NM_019590.3 48 tCt/tTt 0 -KIAA1239 UCSF GRCh37 4 37445481 37445481 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 123 121 196 0 ENST00000309447.5:c.1871G>A p.Arg624Lys p.R624K ENST00000309447 NM_001144990.1 624 aGa/aAa 0 -KIAA1310 UCSF GRCh37 2 97279305 97279305 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 130 115 207 0 ENST00000431828.1:c.715G>A p.Ala239Thr p.A239T ENST00000431828 239 Gct/Act 0 -KIAA1462 UCSF GRCh37 10 30336638 30336638 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 144 68 112 0 ENST00000375377.1:c.104C>T p.Thr35Ile p.T35I ENST00000375377 NM_020848.2 35 aCt/aTt 0 -KIAA1522 UCSF GRCh37 1 33236702 33236702 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 52 86 0 ENST00000401073.2:c.1922C>T p.Ala641Val p.A641V ENST00000401073 NM_020888.2 641 gCc/gTc 0 -KIAA1524 UCSF GRCh37 3 108276236 108276236 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 63 91 0 ENST00000295746.8:c.2039G>A p.Arg680Lys p.R680K ENST00000295746 NM_020890.2 680 aGa/aAa 0 -KIAA1598 UCSF GRCh37 10 118666174 118666174 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 161 62 236 0 ENST00000355371.4:c.1444C>T p.Arg482Cys p.R482C ENST00000355371 NM_001258299.1 482 Cgt/Tgt 0 -KIAA1609 UCSF GRCh37 16 84520414 84520414 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 56 98 0 ENST00000343629.6:c.781G>A p.Glu261Lys p.E261K ENST00000343629 NM_020947.3 261 Gag/Aag 0 -KIAA1614 UCSF GRCh37 1 180885831 180885831 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 68 97 0 ENST00000367588.4:c.592G>A p.Asp198Asn p.D198N ENST00000367588 NM_020950.1 198 Gac/Aac 0 -KIAA1644 UCSF GRCh37 22 44692584 44692584 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 73 140 0 ENST00000381176.4:c.249C>T p.Asn83= p.N83= ENST00000381176 NM_001099294.1 83 aaC/aaT 0 -KIAA1683 UCSF GRCh37 19 18377737 18377737 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 39 32 58 0 ENST00000392413.4:c.613C>T p.Pro205Ser p.P205S ENST00000392413 NM_001145304.1 205 Ccc/Tcc 0 -KIAA1751 UCSF GRCh37 1 1918471 1918471 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 37 75 0 ENST00000270720.7:n.456G>A *152* ENST00000270720 0 -KIAA1755 UCSF GRCh37 20 36841641 36841641 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 27 57 0 ENST00000279024.4:c.3406G>A p.Ala1136Thr p.A1136T ENST00000279024 NM_001029864.1 1136 Gct/Act 0 -KIAA1755 UCSF GRCh37 20 36870139 36870139 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 74 154 0 ENST00000279024.4:c.394G>A p.Asp132Asn p.D132N ENST00000279024 NM_001029864.1 132 Gac/Aac 0 -KIAA1984 UCSF GRCh37 9 139693644 139693644 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 11 52 0 ENST00000338005.6:c.161G>A p.Arg54His p.R54H ENST00000338005 NM_001039374.4 54 cGc/cAc 0 -KIAA1984 UCSF GRCh37 9 139701056 139701056 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 125 66 75 0 ENST00000338005.6:c.1210C>T p.Leu404= p.L404= ENST00000338005 NM_001039374.4 404 Ctg/Ttg 0 -KIAA2022 UCSF GRCh37 X 73962350 73962350 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 46 114 0 ENST00000055682.6:c.2042G>A p.Gly681Asp p.G681D ENST00000055682 NM_001008537.2 681 gGt/gAt 0 -KIDINS220 UCSF GRCh37 2 8916981 8916981 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 70 136 0 ENST00000256707.3:c.2745C>T p.Arg915= p.R915= ENST00000256707 NM_020738.2 915 cgC/cgT 0 -KIF14 UCSF GRCh37 1 200587142 200587142 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 115 113 229 0 ENST00000367350.4:c.710C>T p.Thr237Met p.T237M ENST00000367350 NM_014875.2 237 aCg/aTg 0 -KIF14 UCSF GRCh37 1 200549469 200549469 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 50 130 0 ENST00000367350.4:c.3378G>A p.Arg1126= p.R1126= ENST00000367350 NM_014875.2 1126 cgG/cgA 0 -KIF14 UCSF GRCh37 1 200572392 200572392 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 75 182 0 ENST00000367350.4:c.1941G>A p.Arg647= p.R647= ENST00000367350 NM_014875.2 647 agG/agA 0 -KIF18B UCSF GRCh37 17 43012728 43012728 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 35 69 0 ENST00000593135.1:c.370G>A p.Gly124Arg p.G124R ENST00000593135 NM_001265577.1 124 Ggg/Agg 0 -KIF19 UCSF GRCh37 17 72350339 72350339 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 59 74 0 ENST00000389916.4:c.2347G>A p.Val783Met p.V783M ENST00000389916 NM_153209.3 783 Gtg/Atg 0 -KIF1B UCSF GRCh37 1 10384913 10384913 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 76 162 0 ENST00000263934.6:c.2497C>T p.Pro833Ser p.P833S ENST00000263934 NM_015074.3 833 Ccc/Tcc 0 -KIF1C UCSF GRCh37 17 4910581 4910581 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 22 32 0 ENST00000320785.5:c.1359G>A p.Glu453= p.E453= ENST00000320785 NM_006612.5 453 gaG/gaA 0 -KIF20B UCSF GRCh37 10 91477410 91477410 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 71 193 0 ENST00000260753.4:c.1202G>A p.Gly401Glu p.G401E ENST00000260753 NM_016195.2 401 gGg/gAg 0 -KIF25 UCSF GRCh37 6 168445564 168445564 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 53 122 0 ENST00000443060.2:c.1043C>T p.Ala348Val p.A348V ENST00000443060 348 gCa/gTa 0 -KIF26B UCSF GRCh37 1 245850229 245850229 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 55 85 0 ENST00000407071.2:c.3944C>T p.Ala1315Val p.A1315V ENST00000407071 NM_018012.3 1315 gCc/gTc 0 -KIF27 UCSF GRCh37 9 86495271 86495271 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 358 125 352 0 ENST00000297814.2:c.2584G>A p.Glu862Lys p.E862K ENST00000297814 NM_017576.2 862 Gaa/Aaa 0 -KIF4B UCSF GRCh37 5 154393942 154393942 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 128 102 252 0 ENST00000435029.4:c.523G>A p.Gly175Arg p.G175R ENST00000435029 NM_001099293.1 175 Gga/Aga 0 -KIF4B UCSF GRCh37 5 154396999 154396999 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 52 142 0 ENST00000435029.4:c.3580G>A p.Glu1194Lys p.E1194K ENST00000435029 NM_001099293.1 1194 Gag/Aag 0 -KIF6 UCSF GRCh37 6 39507857 39507857 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 140 105 193 0 ENST00000287152.7:c.1567C>T p.Arg523Ter p.R523* ENST00000287152 NM_145027.4 523 Cga/Tga 0 -KIF7 UCSF GRCh37 15 90188645 90188645 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 39 54 0 ENST00000394412.3:c.1960C>T p.Arg654Cys p.R654C ENST00000394412 NM_198525.2 654 Cgc/Tgc 0 -KIRREL3 UCSF GRCh37 11 126870381 126870381 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 11 36 0 ENST00000525144.2:c.25C>T p.Leu9Phe p.L9F ENST00000525144 NM_032531.3 9 Ctc/Ttc 0 -KIRREL3 UCSF GRCh37 11 126294874 126294874 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 15 38 0 ENST00000525144.2:c.1938C>T p.His646= p.H646= ENST00000525144 NM_032531.3 646 caC/caT 0 -KL UCSF GRCh37 13 33591182 33591182 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 15 16 0 ENST00000380099.3:c.604G>A p.Asp202Asn p.D202N ENST00000380099 NM_004795.3 202 Gac/Aac 0 -KL UCSF GRCh37 13 33635449 33635449 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 54 171 0 ENST00000380099.3:c.2233G>A p.Asp745Asn p.D745N ENST00000380099 NM_004795.3 745 Gac/Aac 0 -KLB UCSF GRCh37 4 39450107 39450107 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 72 164 0 ENST00000257408.4:c.2936C>T p.Thr979Ile p.T979I ENST00000257408 NM_175737.3 979 aCc/aTc 0 -KLB UCSF GRCh37 4 39436095 39436095 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 97 172 0 ENST00000257408.4:c.1091G>A p.Arg364Lys p.R364K ENST00000257408 NM_175737.3 364 aGa/aAa 0 -KLC1 UCSF GRCh37 14 104129146 104129146 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 49 75 0 ENST00000452929.2:c.679G>A p.Gly227Arg p.G227R ENST00000452929 NM_001130107.1 227 Ggg/Agg 0 -KLC2 UCSF GRCh37 11 66026132 66026132 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 22 86 0 ENST00000417856.1:c.67G>A p.Ala23Thr p.A23T ENST00000417856 NM_001134775.1 23 Gct/Act 0 -KLF15 UCSF GRCh37 3 126071339 126071339 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 36 71 0 ENST00000296233.3:c.427G>A p.Glu143Lys p.E143K ENST00000296233 NM_014079.3 143 Gag/Aag 0 -KLHL1 UCSF GRCh37 13 70549775 70549775 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 5 76 194 0 ENST00000377844.4:c.657G>A p.Gly219= p.G219= ENST00000377844 NM_020866.2 219 ggG/ggA 0 -KLHL11 UCSF GRCh37 17 40010205 40010205 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 113 161 0 ENST00000319121.3:c.1914G>A p.Arg638= p.R638= ENST00000319121 NM_018143.1 638 agG/agA 0 -KLHL13 UCSF GRCh37 X 117044028 117044028 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 64 143 0 ENST00000539496.1:c.611G>A p.Arg204Gln p.R204Q ENST00000539496 NM_001168299.1 204 cGg/cAg 0 -KLHL21 UCSF GRCh37 1 6659327 6659327 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 28 56 0 ENST00000377658.4:c.1207G>A p.Glu403Lys p.E403K ENST00000377658 NM_014851.2 403 Gag/Aag 0 -KLHL3 UCSF GRCh37 5 136974757 136974757 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 25 62 0 ENST00000309755.4:c.1104C>T p.Asp368= p.D368= ENST00000309755 NM_017415.2 368 gaC/gaT 0 -KLHL30 UCSF GRCh37 2 239056482 239056482 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 18 43 0 ENST00000409223.1:c.1158C>T p.Thr386= p.T386= ENST00000409223 386 acC/acT 0 -KLHL33 UCSF GRCh37 14 20897381 20897381 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 21 51 0 ENST00000344581.4:c.1229G>A p.Gly410Asp p.G410D ENST00000344581 NM_001109997.2 410 gGc/gAc 0 -KLHL8 UCSF GRCh37 4 88106778 88106778 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 74 153 0 ENST00000273963.5:c.390C>T p.Leu130= p.L130= ENST00000273963 NM_020803.3 130 ctC/ctT 0 -KLK13 UCSF GRCh37 19 51563773 51563773 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 39 113 0 ENST00000595793.1:c.156C>T p.Ala52= p.A52= ENST00000595793 NM_015596.1 52 gcC/gcT 0 -KLK4 UCSF GRCh37 19 51411834 51411834 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 57 129 0 ENST00000324041.1:c.475+1G>A p.X159_splice ENST00000324041 NM_004917.3 0 -KLK8 UCSF GRCh37 19 51501085 51501085 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 51 142 1 ENST00000391806.2:c.684G>A p.Lys228= p.K228= ENST00000391806 228 aaG/aaA 0 -KLRG2 UCSF GRCh37 7 139168313 139168313 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 10 25 0 ENST00000340940.4:c.76G>A p.Val26Ile p.V26I ENST00000340940 NM_198508.2 26 Gtc/Atc 0 -KNTC1 UCSF GRCh37 12 123065191 123065191 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 62 144 0 ENST00000333479.7:c.2956C>T p.Leu986= p.L986= ENST00000333479 NM_014708.4 986 Cta/Tta 0 -KNTC1 UCSF GRCh37 12 123105155 123105155 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 129 84 196 0 ENST00000333479.7:c.6279G>A p.Lys2093= p.K2093= ENST00000333479 NM_014708.4 2093 aaG/aaA 0 -KPRP UCSF GRCh37 1 152733324 152733324 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 87 146 0 ENST00000368773.1:c.1260G>A p.Pro420= p.P420= ENST00000368773 NM_001025231.1 420 ccG/ccA 0 -KPTN UCSF GRCh37 19 47979872 47979872 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 12 43 0 ENST00000338134.3:c.1099C>T p.Leu367= p.L367= ENST00000338134 NM_007059.2 367 Ctg/Ttg 0 -KREMEN2 UCSF GRCh37 16 3014543 3014543 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 17 49 0 ENST00000303746.5:c.22G>A p.Gly8Ser p.G8S ENST00000303746 8 Ggc/Agc 0 -KRT16 UCSF GRCh37 17 39766220 39766220 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 14 26 0 ENST00000301653.4:c.1389C>T p.Ser463= p.S463= ENST00000301653 NM_005557.3 463 agC/agT 0 -KRT17 UCSF GRCh37 17 39777062 39777062 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 82 148 0 ENST00000311208.8:c.1030G>A p.Gly344Arg p.G344R ENST00000311208 NM_000422.2 344 Ggg/Agg 0 -KRT23 UCSF GRCh37 17 39092689 39092689 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 62 130 0 ENST00000209718.3:c.167G>A p.Gly56Glu p.G56E ENST00000209718 NM_015515.3 56 gGa/gAa 0 -KRT38 UCSF GRCh37 17 39596466 39596466 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 46 123 0 ENST00000246646.3:c.522G>A p.Arg174= p.R174= ENST00000246646 NM_006771.3 174 agG/agA 0 -KRT5 UCSF GRCh37 12 52913654 52913654 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 87 143 0 ENST00000252242.4:c.427G>A p.Val143Ile p.V143I ENST00000252242 NM_000424.3 143 Gtc/Atc 0 -KRT78 UCSF GRCh37 12 53233613 53233613 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 70 90 0 ENST00000304620.4:c.1203C>T p.Ser401= p.S401= ENST00000304620 NM_173352.2 401 agC/agT 0 -KRT8 UCSF GRCh37 12 53292248 53292248 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 20 17 62 0 ENST00000552150.1:c.1342G>A p.Ala448Thr p.A448T ENST00000552150 NM_001256282.1 448 Gca/Aca 0 -KRTAP4-9 UCSF GRCh37 17 39261982 39261982 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 54 81 0 ENST00000391415.1:c.342C>T p.Cys114= p.C114= ENST00000391415 NM_001146041.1 114 tgC/tgT 0 -KRTAP6-3 UCSF GRCh37 21 31964836 31964836 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 80 176 1 ENST00000391624.1:c.51C>T p.Cys17= p.C17= ENST00000391624 NM_181605.3 17 tgC/tgT 0 -KSR2 UCSF GRCh37 12 118198996 118198996 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 46 72 0 ENST00000339824.5:c.806C>T p.Thr269Ile p.T269I ENST00000339824 269 aCc/aTc 0 -LAD1 UCSF GRCh37 1 201355974 201355974 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 101 164 0 ENST00000391967.2:c.515G>A p.Gly172Glu p.G172E ENST00000391967 NM_005558.3 172 gGg/gAg 0 -LAMA2 UCSF GRCh37 6 129687384 129687384 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P10_Rec Untested WXS Illumina HiSeq 41 0 ENST00000421865.2:c.4739del p.Gly1580AlafsTer15 p.G1580Afs*15 ENST00000421865 NM_001079823.1 1580 Ggc/gc 0 -LAMA2 UCSF GRCh37 6 129714201 129714201 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 63 170 0 ENST00000421865.2:c.5246C>T p.Ala1749Val p.A1749V ENST00000421865 NM_001079823.1 1749 gCc/gTc 0 -LAMA3 UCSF GRCh37 18 21395538 21395538 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 41 120 0 ENST00000313654.9:c.2047+1G>A p.X683_splice ENST00000313654 NM_198129.1 0 -LAMA4 UCSF GRCh37 6 112499418 112499418 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 65 101 0 ENST00000230538.7:c.1094G>A p.Arg365Lys p.R365K ENST00000230538 NM_001105206.2 365 aGa/aAa 0 -LAMA4 UCSF GRCh37 6 112460974 112460974 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 76 169 0 ENST00000230538.7:c.3090C>T p.Ser1030= p.S1030= ENST00000230538 NM_001105206.2 1030 tcC/tcT 0 -LAMA5 UCSF GRCh37 20 60889928 60889928 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 48 66 0 ENST00000252999.3:c.8123C>T p.Ala2708Val p.A2708V ENST00000252999 NM_005560.4 2708 gCc/gTc 0 -LAMB1 UCSF GRCh37 7 107594095 107594095 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 75 146 0 ENST00000222399.6:c.2959C>T p.Pro987Ser p.P987S ENST00000222399 NM_002291.2 987 Cca/Tca 0 -LAMB1 UCSF GRCh37 7 107575896 107575896 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 95 204 0 ENST00000222399.6:c.4152G>A p.Lys1384= p.K1384= ENST00000222399 NM_002291.2 1384 aaG/aaA 0 -LAMB3 UCSF GRCh37 1 209800835 209800835 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 31 63 0 ENST00000391911.1:c.1378C>T p.Pro460Ser p.P460S ENST00000391911 NM_001017402.1 460 Ccc/Tcc 0 -LAMC2 UCSF GRCh37 1 183197740 183197740 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 68 129 0 ENST00000264144.4:c.1700C>T p.Ala567Val p.A567V ENST00000264144 NM_005562.2 567 gCa/gTa 0 -LAMC3 UCSF GRCh37 9 133932472 133932472 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.010,1000g2011may_all_0.0351,snp132_rs61737720 P10_Rec Untested WXS Illumina HiSeq 120 61 111 0 ENST00000361069.4:c.2096G>A p.Gly699Asp p.G699D ENST00000361069 NM_006059.3 699 gGt/gAt 0 -LAP3 UCSF GRCh37 4 17608484 17608484 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 58 156 0 ENST00000226299.4:c.1293G>A p.Arg431= p.R431= ENST00000226299 NM_015907.2 431 agG/agA 0 -LARS UCSF GRCh37 5 145508612 145508612 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 39 36 104 0 ENST00000394434.2:c.2698C>T p.Gln900Ter p.Q900* ENST00000394434 NM_020117.9 900 Cag/Tag 0 -LAS1L UCSF GRCh37 X 64748194 64748194 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 6 26 0 ENST00000374811.3:c.902C>T p.Ser301Phe p.S301F ENST00000374811 NM_031206.4 301 tCc/tTc 0 -LATS1 UCSF GRCh37 6 149997779 149997779 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 42 71 0 ENST00000253339.5:c.2688G>A p.Arg896= p.R896= ENST00000253339 896 cgG/cgA 0 -LAX1 UCSF GRCh37 1 203743526 203743526 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 85 140 0 ENST00000442561.2:c.914G>A p.Ser305Asn p.S305N ENST00000442561 NM_017773.3 305 aGc/aAc 0 -LCE3E UCSF GRCh37 1 152538436 152538436 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 95 161 0 ENST00000368789.1:c.249C>T p.Gly83= p.G83= ENST00000368789 NM_178435.3 83 ggC/ggT 0 -LCK UCSF GRCh37 1 32740015 32740015 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 65 108 0 ENST00000336890.5:c.85C>T p.Pro29Ser p.P29S ENST00000336890 NM_005356.3 29 Cca/Tca 0 -LCT UCSF GRCh37 2 136561679 136561679 + missense_variant Missense_Mutation SNP T T A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 41 120 0 ENST00000264162.2:c.4484A>T p.Asp1495Val p.D1495V ENST00000264162 NM_002299.2 1495 gAc/gTc 0 -LDB2 UCSF GRCh37 4 16504426 16504426 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 117 104 198 0 ENST00000304523.5:c.962C>T p.Thr321Ile p.T321I ENST00000304523 NM_001290.3 321 aCt/aTt 0 -LDB2 UCSF GRCh37 4 16504319 16504319 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 109 110 192 0 ENST00000304523.5:c.1069C>T p.Pro357Ser p.P357S ENST00000304523 NM_001290.3 357 Ccc/Tcc 0 -LDB3 UCSF GRCh37 10 88441418 88441418 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 43 79 0 ENST00000429277.2:c.547C>T p.Pro183Ser p.P183S ENST00000429277 NM_001171610.1 183 Cca/Tca 0 -LEAP2 UCSF GRCh37 5 132209757 132209757 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 52 131 0 ENST00000296877.2:c.173C>T p.Ser58Phe p.S58F ENST00000296877 NM_052971.2 58 tCt/tTt 0 -LEPREL1 UCSF GRCh37 3 189706695 189706695 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 78 183 0 ENST00000319332.5:c.955+1G>A p.X319_splice ENST00000319332 NM_018192.3 0 -LGALS9B UCSF GRCh37 17 20361598 20361598 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 48 243 0 ENST00000324290.5:c.231G>A p.Arg77= p.R77= ENST00000324290 NM_001042685.1 77 agG/agA 0 -LGR5 UCSF GRCh37 12 71834027 71834027 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 42 47 0 ENST00000266674.5:c.167G>A p.Gly56Glu p.G56E ENST00000266674 NM_001277226.1 56 gGg/gAg 0 -LHFPL2 UCSF GRCh37 5 77805969 77805969 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 54 113 0 ENST00000380345.2:c.68C>T p.Ala23Val p.A23V ENST00000380345 NM_005779.2 23 gCc/gTc 0 -LHX2 UCSF GRCh37 9 126777518 126777518 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 79 141 0 ENST00000373615.4:c.441C>T p.Asn147= p.N147= ENST00000373615 NM_004789.3 147 aaC/aaT 0 -LHX4 UCSF GRCh37 1 180243477 180243477 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 96 190 0 ENST00000263726.2:c.936G>A p.Gln312= p.Q312= ENST00000263726 NM_033343.3 312 caG/caA 0 -LILRB3 UCSF GRCh37 19 54725769 54725769 + missense_variant Missense_Mutation SNP A A T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 31 109 0 ENST00000245620.9:c.589T>A p.Tyr197Asn p.Y197N ENST00000245620 197 Tat/Aat 0 -LIMA1 UCSF GRCh37 12 50615987 50615987 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 106 192 0 ENST00000394943.3:c.447G>A p.Glu149= p.E149= ENST00000394943 149 gaG/gaA 0 -LLGL1 UCSF GRCh37 17 18137478 18137478 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 24 29 0 ENST00000316843.4:c.703C>T p.Leu235= p.L235= ENST00000316843 NM_004140.3 235 Ctg/Ttg 0 -LMBRD1 UCSF GRCh37 6 70411348 70411348 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 19 17 63 0 ENST00000370577.3:c.1070C>T p.Pro357Leu p.P357L ENST00000370577 NM_018368.3 357 cCt/cTt 0 -LNP1 UCSF GRCh37 3 100148694 100148694 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 56 119 0 ENST00000383693.3:c.121G>A p.Ala41Thr p.A41T ENST00000383693 NM_001085451.1 41 Gcc/Acc 0 -LOC100129924 UCSF GRCh37 1 43255568 43255568 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 59 110 0 ENST00000421630.1:c.89G>A p.Val31Met p.V31M ENST00000421630 NM_001242750.1 31 Gtg/Atg 0 -LOC120824 UCSF GRCh37 11 49002870 49002870 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 112 214 0 ENST00000534741.1:n.378C>T *126* ENST00000534741 0 -LOC388946 UCSF GRCh37 2 46711561 46711561 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 121 112 231 0 ENST00000434431.1:c.656C>T p.Ser219Leu p.S219L ENST00000434431 NM_001145051.2 219 tCa/tTa 0 -LOH12CR1 UCSF GRCh37 12 12510410 12510410 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 15 30 0 ENST00000314565.4:c.25G>A p.Ala9Thr p.A9T ENST00000314565 NM_058169.3 9 Gcc/Acc 0 -LONP2 UCSF GRCh37 16 48278417 48278417 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 9 20 0 ENST00000285737.4:c.118C>T p.Gln40Ter p.Q40* ENST00000285737 NM_031490.2 40 Cag/Tag 0 -LOX UCSF GRCh37 5 121413366 121413366 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 10 11 0 ENST00000231004.4:c.315G>A p.Arg105= p.R105= ENST00000231004 NM_002317.5 105 cgG/cgA 0 -LOXHD1 UCSF GRCh37 18 44159706 44159706 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 37 83 0 ENST00000398722.4:c.862G>A p.Gly288Ser p.G288S ENST00000398722 288 Ggt/Agt 0 -LOXHD1 UCSF GRCh37 18 44122802 44122802 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 29 112 0 ENST00000300591.6:c.303G>A p.Lys101= p.K101= ENST00000300591 NM_001145472.2 101 aaG/aaA 0 -LOXHD1 UCSF GRCh37 18 44104875 44104875 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 4 30 0 ENST00000300591.6:c.1203C>T p.Asp401= p.D401= ENST00000300591 NM_001145472.2 401 gaC/gaT 0 -LPXN UCSF GRCh37 11 58318693 58318693 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 40 85 0 ENST00000528954.1:c.346G>A p.Ala116Thr p.A116T ENST00000528954 NM_001143995.1 116 Gca/Aca 0 -LRBA UCSF GRCh37 4 151408963 151408963 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.001 P10_Rec Untested WXS Illumina HiSeq 63 49 123 0 ENST00000357115.3:c.6505G>A p.Asp2169Asn p.D2169N ENST00000357115 NM_006726.4 2169 Gac/Aac 0 -LRBA UCSF GRCh37 4 151203777 151203777 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 79 53 110 0 ENST00000357115.3:c.8174C>T p.Ser2725Phe p.S2725F ENST00000357115 NM_006726.4 2725 tCc/tTc 0 -LRCH4 UCSF GRCh37 7 100173932 100173932 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 21 39 0 ENST00000310300.6:c.1567G>A p.Asp523Asn p.D523N ENST00000310300 NM_002319.3 523 Gac/Aac 0 -LRFN3 UCSF GRCh37 19 36430445 36430445 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 15 33 0 ENST00000588831.1:c.118C>T p.Pro40Ser p.P40S ENST00000588831 40 Ccc/Tcc 0 -LRG1 UCSF GRCh37 19 4538787 4538787 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 42 72 0 ENST00000306390.6:c.209C>T p.Thr70Ile p.T70I ENST00000306390 NM_052972.2 70 aCc/aTc 0 -LRP1B UCSF GRCh37 2 141259338 141259338 + missense_variant Missense_Mutation SNP C C T snp132_rs77813209 P10_Rec Untested WXS Illumina HiSeq 77 74 178 0 ENST00000389484.3:c.8768G>A p.Arg2923Lys p.R2923K ENST00000389484 NM_018557.2 2923 aGa/aAa 0 -LRP2 UCSF GRCh37 2 170101379 170101379 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 72 198 0 ENST00000263816.3:c.3254G>A p.Arg1085His p.R1085H ENST00000263816 NM_004525.2 1085 cGc/cAc 0 -LRRC24 UCSF GRCh37 8 145748767 145748767 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 20 35 0 ENST00000529415.2:c.634C>T p.Leu212= p.L212= ENST00000529415 212 Ctg/Ttg 0 -LRRC45 UCSF GRCh37 17 79983276 79983276 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 39 126 0 ENST00000306688.3:c.554G>A p.Gly185Asp p.G185D ENST00000306688 NM_144999.2 185 gGc/gAc 0 -LRRC48 UCSF GRCh37 17 17910712 17910712 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 70 152 0 ENST00000313838.8:c.1326+251G>A *442* ENST00000313838 NM_001130090.1 0 -LRRC49 UCSF GRCh37 15 71188259 71188259 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 27 111 0 ENST00000560369.1:c.192C>T p.Asn64= p.N64= ENST00000560369 64 aaC/aaT 0 -LRRC4C UCSF GRCh37 11 40137279 40137279 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 101 206 0 ENST00000278198.2:c.564C>T p.Ile188= p.I188= ENST00000278198 188 atC/atT 0 -LRRC4C UCSF GRCh37 11 40137585 40137585 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 5 63 133 0 ENST00000278198.2:c.258C>T p.Asn86= p.N86= ENST00000278198 86 aaC/aaT 0 -LRRIQ1 UCSF GRCh37 12 85546078 85546078 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 65 159 0 ENST00000393217.2:c.4350G>A p.Trp1450Ter p.W1450* ENST00000393217 NM_001079910.1 1450 tgG/tgA 0 -LRRIQ4 UCSF GRCh37 3 169540582 169540582 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 73 163 0 ENST00000340806.6:c.873C>T p.Gly291= p.G291= ENST00000340806 NM_001080460.1 291 ggC/ggT 0 -LRRK2 UCSF GRCh37 12 40696608 40696608 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 77 194 0 ENST00000298910.7:c.3514C>T p.Pro1172Ser p.P1172S ENST00000298910 NM_198578.3 1172 Cct/Tct 0 -LRRTM1 UCSF GRCh37 2 80530170 80530170 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 52 111 0 ENST00000295057.3:c.775G>A p.Glu259Lys p.E259K ENST00000295057 NM_178839.4 259 Gag/Aag 0 -LRRTM3 UCSF GRCh37 10 68687617 68687617 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 83 181 0 ENST00000361320.4:c.943G>A p.Glu315Lys p.E315K ENST00000361320 NM_178011.3 315 Gaa/Aaa 0 -LRRTM3 UCSF GRCh37 10 68687235 68687235 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 96 203 0 ENST00000361320.4:c.561C>T p.Asp187= p.D187= ENST00000361320 NM_178011.3 187 gaC/gaT 0 -LRWD1 UCSF GRCh37 7 102108556 102108556 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 14 20 0 ENST00000292616.5:c.726C>T p.Leu242= p.L242= ENST00000292616 NM_152892.1 242 ctC/ctT 0 -LSG1 UCSF GRCh37 3 194387006 194387006 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 65 150 0 ENST00000265245.5:c.360C>T p.Asn120= p.N120= ENST00000265245 NM_018385.2 120 aaC/aaT 0 -LSMD1 UCSF GRCh37 17 7760127 7760127 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 49 100 0 ENST00000333775.5:c.444C>T p.Gly148= p.G148= ENST00000333775 NM_032356.3 148 ggC/ggT 0 -LTBP1 UCSF GRCh37 2 33623550 33623550 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 58 130 0 ENST00000404816.2:c.5104C>T p.Pro1702Ser p.P1702S ENST00000404816 1702 Cca/Tca 0 -LTK UCSF GRCh37 15 41804429 41804429 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 16 43 0 ENST00000263800.6:c.394G>A p.Ala132Thr p.A132T ENST00000263800 NM_002344.5 132 Gcc/Acc 0 -LTN1 UCSF GRCh37 21 30304865 30304865 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 132 131 227 0 ENST00000389194.2:c.5135G>A p.Gly1712Glu p.G1712E ENST00000389194 NM_015565.2 1712 gGg/gAg 0 -LTN1 UCSF GRCh37 21 30313628 30313628 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 67 184 0 ENST00000389194.2:c.4534C>T p.Pro1512Ser p.P1512S ENST00000389194 NM_015565.2 1512 Cca/Tca 0 -LTN1 UCSF GRCh37 21 30316208 30316208 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 70 173 0 ENST00000389194.2:c.4139C>T p.Ser1380Phe p.S1380F ENST00000389194 NM_015565.2 1380 tCt/tTt 0 -LUZP1 UCSF GRCh37 1 23420637 23420637 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 105 76 213 0 ENST00000302291.4:c.118G>A p.Ala40Thr p.A40T ENST00000302291 40 Gca/Aca 0 -LY75 UCSF GRCh37 2 160750565 160750565 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 57 186 0 ENST00000504764.1:c.497G>A p.Gly166Glu p.G166E ENST00000504764 NM_001198759.1 166 gGg/gAg 0 -LYPD4 UCSF GRCh37 19 42342085 42342085 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 82 53 121 0 ENST00000330743.3:c.462C>T p.Leu154= p.L154= ENST00000330743 NM_173506.4 154 ctC/ctT 0 -MACF1 UCSF GRCh37 1 39759204 39759204 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 87 211 0 ENST00000545844.1:c.2082C>T p.Ile694= p.I694= ENST00000545844 694 atC/atT 0 -MACF1 UCSF GRCh37 1 39913788 39913788 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 66 152 0 ENST00000545844.1:c.13875C>T p.Asp4625= p.D4625= ENST00000545844 4625 gaC/gaT 0 -MACROD1 UCSF GRCh37 11 63766310 63766310 + splice_region_variant,3_prime_UTR_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 4 21 0 ENST00000255681.6:c.*30G>A p.X10_splice ENST00000255681 NM_014067.3 0 -MAD2L2 UCSF GRCh37 1 11736191 11736191 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 27 58 0 ENST00000235310.3:c.339C>T p.Asp113= p.D113= ENST00000235310 113 gaC/gaT 0 -MAG UCSF GRCh37 19 35793430 35793430 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 41 109 0 ENST00000392213.3:c.1050G>A p.Gln350= p.Q350= ENST00000392213 NM_002361.3 350 caG/caA 0 -MAGEB3 UCSF GRCh37 X 30254867 30254867 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 75 158 0 ENST00000361644.2:c.826G>A p.Gly276Ser p.G276S ENST00000361644 NM_002365.4 276 Ggt/Agt 0 -MAGEB6 UCSF GRCh37 X 26212424 26212424 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 76 211 0 ENST00000379034.1:c.461C>T p.Thr154Ile p.T154I ENST00000379034 NM_173523.2 154 aCt/aTt 0 -MAGED2 UCSF GRCh37 X 54841848 54841848 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 40 41 90 0 ENST00000375068.1:c.1554G>A p.Trp518Ter p.W518* ENST00000375068 518 tgG/tgA 0 -MAGED2 UCSF GRCh37 X 54838651 54838651 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 44 96 0 ENST00000375068.1:c.1052C>T p.Thr351Ile p.T351I ENST00000375068 351 aCc/aTc 0 -MAGI2 UCSF GRCh37 7 77649240 77649240 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 20 39 50 0 ENST00000354212.4:c.3760G>A p.Val1254Ile p.V1254I ENST00000354212 NM_012301.3 1254 Gta/Ata 0 -MAGI3 UCSF GRCh37 1 113933844 113933844 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 7 15 0 ENST00000307546.9:c.189G>A p.Lys63= p.K63= ENST00000307546 NM_001142782.1 63 aaG/aaA 0 -MAK UCSF GRCh37 6 10791958 10791958 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 64 179 0 ENST00000313243.2:c.1266G>A p.Lys422= p.K422= ENST00000313243 422 aaG/aaA 0 -MAK16 UCSF GRCh37 8 33346598 33346598 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 67 201 0 ENST00000360128.6:c.333G>A p.Gln111= p.Q111= ENST00000360128 NM_032509.3 111 caG/caA 0 -MAL2 UCSF GRCh37 8 120252459 120252459 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 348 107 164 0 ENST00000276681.6:c.358G>A p.Glu120Lys p.E120K ENST00000276681 NM_052886.2 120 Gaa/Aaa 0 -MAMDC4 UCSF GRCh37 9 139748472 139748472 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 135 47 123 0 ENST00000317446.2:c.614C>T p.Thr205Ile p.T205I ENST00000317446 NM_206920.2 205 aCc/aTc 0 -MAMDC4 UCSF GRCh37 9 139750500 139750500 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 96 42 96 0 ENST00000317446.2:c.1619G>A p.Gly540Glu p.G540E ENST00000317446 NM_206920.2 540 gGg/gAg 0 -MAML3 UCSF GRCh37 4 141074079 141074079 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 7 23 0 ENST00000509479.2:c.403C>T p.Pro135Ser p.P135S ENST00000509479 NM_018717.4 135 Ccg/Tcg 0 -MAMSTR UCSF GRCh37 19 49218605 49218605 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 22 52 0 ENST00000318083.6:c.339G>A p.Arg113= p.R113= ENST00000318083 113 agG/agA 0 -MAN2B1 UCSF GRCh37 19 12759216 12759216 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 21 52 0 ENST00000456935.2:c.2437G>A p.Val813Met p.V813M ENST00000456935 NM_000528.3 813 Gtg/Atg 0 -MANF UCSF GRCh37 3 51425239 51425239 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 94 193 0 ENST00000528157.1:c.294C>T p.His98= p.H98= ENST00000528157 NM_006010.4 98 caC/caT 0 -MAP1A UCSF GRCh37 15 43819862 43819862 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.0018 P10_Rec Untested WXS Illumina HiSeq 35 49 72 0 ENST00000300231.5:c.6191C>T p.Pro2064Leu p.P2064L ENST00000300231 2064 cCc/cTc 0 -MAP1B UCSF GRCh37 5 71403432 71403432 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 11 16 0 ENST00000296755.7:c.74C>T p.Ser25Leu p.S25L ENST00000296755 NM_005909.3 25 tCg/tTg 0 -MAP1S UCSF GRCh37 19 17838521 17838521 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 19 41 0 ENST00000324096.4:c.2328G>A p.Gly776= p.G776= ENST00000324096 NM_018174.4 776 ggG/ggA 0 -MAP2 UCSF GRCh37 2 210560323 210560323 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 96 84 151 0 ENST00000360351.4:c.3429G>A p.Glu1143= p.E1143= ENST00000360351 NM_002374.3 1143 gaG/gaA 0 -MAP3K14 UCSF GRCh37 17 43345108 43345108 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 72 179 0 ENST00000344686.2:n.2097C>T *699* ENST00000344686 0 -MAP3K4 UCSF GRCh37 6 161470113 161470113 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 53 132 0 ENST00000392142.4:c.809C>T p.Ala270Val p.A270V ENST00000392142 NM_005922.2 270 gCc/gTc 0 -MAP3K4 UCSF GRCh37 6 161519420 161519420 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 76 177 0 ENST00000392142.4:c.3635C>T p.Ser1212Phe p.S1212F ENST00000392142 NM_005922.2 1212 tCt/tTt 0 -MAP3K9 UCSF GRCh37 14 71199907 71199907 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 50 93 0 ENST00000555993.2:c.2221G>A p.Ala741Thr p.A741T ENST00000555993 NM_033141.2 741 Gcc/Acc 0 -MAP3K9 UCSF GRCh37 14 71215576 71215576 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 62 149 0 ENST00000555993.2:c.1296G>A p.Glu432= p.E432= ENST00000555993 NM_033141.2 432 gaG/gaA 0 -MAP4K4 UCSF GRCh37 2 102477371 102477371 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 67 149 0 ENST00000347699.4:c.1789C>T p.Pro597Ser p.P597S ENST00000347699 NM_145687.3 597 Cct/Tct 0 -MAP7D2 UCSF GRCh37 X 20044013 20044013 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 115 222 0 ENST00000379643.5:c.1065G>A p.Gly355= p.G355= ENST00000379643 NM_001168465.1 355 ggG/ggA 0 -MAPK7 UCSF GRCh37 17 19286515 19286515 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 41 64 0 ENST00000308406.5:c.2422G>A p.Ala808Thr p.A808T ENST00000308406 NM_139033.2 808 Gct/Act 0 -MAPK8IP3 UCSF GRCh37 16 1756385 1756385 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 16 16 0 ENST00000250894.4:c.45C>T p.Tyr15= p.Y15= ENST00000250894 NM_015133.3 15 taC/taT 0 -MARVELD3 UCSF GRCh37 16 71668385 71668385 + intron_variant Intron SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 67 102 0 ENST00000299952.4:c.595+4988C>T *199* ENST00000299952 NM_001017967.3 0 -MASP1 UCSF GRCh37 3 186961389 186961389 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 83 186 0 ENST00000296280.6:c.1111G>A p.Gly371Arg p.G371R ENST00000296280 NM_139125.3 371 Gga/Aga 0 -MASP2 UCSF GRCh37 1 11094897 11094897 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 18 41 0 ENST00000400897.3:c.1075C>T p.Pro359Ser p.P359S ENST00000400897 NM_006610.3 359 Ccc/Tcc 0 -MAST1 UCSF GRCh37 19 12980027 12980027 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 63 128 0 ENST00000251472.4:c.2921G>A p.Gly974Asp p.G974D ENST00000251472 NM_014975.2 974 gGc/gAc 0 -MAST1 UCSF GRCh37 19 12981740 12981740 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 96 99 172 0 ENST00000251472.4:c.3106G>A p.Val1036Ile p.V1036I ENST00000251472 NM_014975.2 1036 Gtc/Atc 0 -MAST2 UCSF GRCh37 1 46295118 46295118 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 77 118 0 ENST00000361297.2:c.333G>A p.Gln111= p.Q111= ENST00000361297 NM_015112.2 111 caG/caA 0 -MAST3 UCSF GRCh37 19 18241465 18241465 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 57 136 0 ENST00000262811.6:c.1298C>T p.Ser433Phe p.S433F ENST00000262811 NM_015016.1 433 tCc/tTc 0 -MAST3 UCSF GRCh37 19 18235099 18235099 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 57 80 0 ENST00000262811.6:c.781G>A p.Glu261Lys p.E261K ENST00000262811 NM_015016.1 261 Gag/Aag 0 -MATN4 UCSF GRCh37 20 43927138 43927138 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 54 113 0 ENST00000537548.1:c.1098C>T p.Arg366= p.R366= ENST00000537548 NM_003833.4 366 cgC/cgT 0 -MC2R UCSF GRCh37 18 13884907 13884907 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 64 106 0 ENST00000327606.3:c.611C>T p.Thr204Ile p.T204I ENST00000327606 NM_000529.2 204 aCc/aTc 0 -MCCC2 UCSF GRCh37 5 70945927 70945927 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 103 214 1 ENST00000340941.6:c.1405C>T p.Arg469Cys p.R469C ENST00000340941 NM_022132.4 469 Cgt/Tgt 0 -MCF2L UCSF GRCh37 13 113741572 113741572 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 23 47 0 ENST00000535094.2:c.2397G>A p.Lys799= p.K799= ENST00000535094 NM_001112732.2 799 aaG/aaA 0 -MCF2L2 UCSF GRCh37 3 183027568 183027568 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 75 150 0 ENST00000328913.3:c.1049G>A p.Gly350Glu p.G350E ENST00000328913 NM_015078.2 350 gGa/gAa 0 -MDN1 UCSF GRCh37 6 90383056 90383056 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 73 148 0 ENST00000369393.3:c.13373C>T p.Ala4458Val p.A4458V ENST00000369393 4458 gCa/gTa 0 -MED12L UCSF GRCh37 3 151148113 151148113 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 51 107 0 ENST00000474524.1:c.6330C>T p.Thr2110= p.T2110= ENST00000474524 NM_053002.4 2110 acC/acT 0 -MED13L UCSF GRCh37 12 116421027 116421027 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 62 135 0 ENST00000281928.3:c.4850G>A p.Ser1617Asn p.S1617N ENST00000281928 NM_015335.4 1617 aGc/aAc 0 -MED13L UCSF GRCh37 12 116443759 116443759 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 52 137 0 ENST00000281928.3:c.2384G>A p.Ser795Asn p.S795N ENST00000281928 NM_015335.4 795 aGt/aAt 0 -MED14 UCSF GRCh37 X 40531161 40531161 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 89 186 0 ENST00000324817.1:c.3085C>T p.His1029Tyr p.H1029Y ENST00000324817 NM_004229.3 1029 Cat/Tat 0 -MED14 UCSF GRCh37 X 40534551 40534551 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 56 139 0 ENST00000324817.1:c.2943C>T p.Asp981= p.D981= ENST00000324817 NM_004229.3 981 gaC/gaT 0 -MED14 UCSF GRCh37 X 40562802 40562802 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 51 103 0 ENST00000324817.1:c.1305C>T p.Leu435= p.L435= ENST00000324817 NM_004229.3 435 ctC/ctT 0 -MED23 UCSF GRCh37 6 131929203 131929203 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 77 152 0 ENST00000368068.3:c.1086G>A p.Gly362= p.G362= ENST00000368068 NM_004830.3 362 ggG/ggA 0 -MEGF11 UCSF GRCh37 15 66420670 66420670 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 17 29 0 ENST00000409699.2:c.72C>T p.Asp24= p.D24= ENST00000409699 24 gaC/gaT 0 -MEI1 UCSF GRCh37 22 42190449 42190449 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 5 129 232 0 ENST00000401548.3:c.3502C>T p.Leu1168Phe p.L1168F ENST00000401548 NM_152513.3 1168 Ctc/Ttc 0 -MESP1 UCSF GRCh37 15 90294045 90294045 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 8 15 0 ENST00000300057.4:c.418C>T p.Leu140= p.L140= ENST00000300057 NM_018670.3 140 Cta/Tta 0 -METTL10 UCSF GRCh37 10 126454016 126454017 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 0 ENST00000368836.2:c.561dup p.Leu188SerfsTer6 p.L188Sfs*6 ENST00000368836 NM_212554.2 187 ttt/ttTt 0 -METTL3 UCSF GRCh37 14 21971694 21971694 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 62 163 0 ENST00000298717.4:c.345G>A p.Gly115= p.G115= ENST00000298717 NM_019852.3 115 ggG/ggA 0 -METTL4 UCSF GRCh37 18 2547360 2547360 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 68 154 0 ENST00000574538.1:c.1068G>A p.Trp356Ter p.W356* ENST00000574538 NM_022840.3 356 tgG/tgA 0 -MEX3A UCSF GRCh37 1 156047225 156047225 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 16 58 0 ENST00000532414.2:c.703G>A p.Val235Met p.V235M ENST00000532414 NM_001093725.1 235 Gtg/Atg 0 -MFAP3L UCSF GRCh37 4 170913421 170913421 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 71 140 0 ENST00000361618.3:c.338C>T p.Thr113Ile p.T113I ENST00000361618 NM_021647.6 113 aCc/aTc 0 -MFHAS1 UCSF GRCh37 8 8749590 8749590 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 42 78 0 ENST00000276282.6:c.979G>A p.Asp327Asn p.D327N ENST00000276282 NM_004225.2 327 Gat/Aat 0 -MFSD7 UCSF GRCh37 4 680002 680002 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 27 67 0 ENST00000322224.4:c.384C>T p.Phe128= p.F128= ENST00000322224 128 ttC/ttT 0 -MGST2 UCSF GRCh37 4 140599723 140599723 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 46 98 0 ENST00000265498.1:c.85G>A p.Ala29Thr p.A29T ENST00000265498 NM_002413.4 29 Gca/Aca 0 -MICAL3 UCSF GRCh37 22 18362124 18362124 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 33 40 63 0 ENST00000441493.2:c.2241+6520C>T *747* ENST00000441493 NM_015241.2 0 -MINA UCSF GRCh37 3 97686406 97686406 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 38 98 0 ENST00000333396.7:c.32G>A p.Gly11Glu p.G11E ENST00000333396 NM_001042533.2 11 gGg/gAg 0 -MITF UCSF GRCh37 3 69987126 69987126 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 54 124 0 ENST00000352241.4:c.508C>T p.Pro170Ser p.P170S ENST00000352241 NM_198159.2 170 Cca/Tca 0 -MKRN2 UCSF GRCh37 3 12611623 12611623 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 64 115 0 ENST00000170447.7:c.209C>T p.Ala70Val p.A70V ENST00000170447 NM_014160.4 70 gCc/gTc 0 -MLH1 UCSF GRCh37 3 37090029 37090029 + missense_variant Missense_Mutation SNP C C T snp132_rs63749792 P10_Rec somatic WXS Sanger Illumina HiSeq 9 59 135 0 ENST00000231790.2:c.1918C>T p.Pro640Ser p.P640S ENST00000231790 NM_000249.3 640 Ccc/Tcc 0 -MLKL UCSF GRCh37 16 74706417 74706417 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 91 198 0 ENST00000308807.7:c.1401C>T p.Ser467= p.S467= ENST00000308807 NM_152649.2 467 tcC/tcT 0 -MLL UCSF GRCh37 11 118373395 118373395 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 73 161 0 ENST00000534358.1:c.6788C>T p.Thr2263Ile p.T2263I ENST00000534358 NM_005933.3 2263 aCt/aTt 0 -MLL2 UCSF GRCh37 12 49443496 49443496 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 60 110 0 ENST00000301067.7:c.3875G>A p.Arg1292His p.R1292H ENST00000301067 NM_003482.3 1292 cGc/cAc 0 -MLL2 UCSF GRCh37 12 49431862 49431862 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 51 122 0 ENST00000301067.7:c.9277C>T p.Pro3093Ser p.P3093S ENST00000301067 NM_003482.3 3093 Ccc/Tcc 0 -MLL2 UCSF GRCh37 12 49436429 49436429 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 46 126 0 ENST00000301067.7:c.5783-1G>A p.X1928_splice ENST00000301067 NM_003482.3 0 -MLL2 UCSF GRCh37 12 49416080 49416080 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 69 116 0 ENST00000301067.7:c.16395G>A p.Leu5465= p.L5465= ENST00000301067 NM_003482.3 5465 ttG/ttA 0 -MLL2 UCSF GRCh37 12 49435948 49435948 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 28 85 0 ENST00000301067.7:c.6033G>A p.Glu2011= p.E2011= ENST00000301067 NM_003482.3 2011 gaG/gaA 0 -MLL3 UCSF GRCh37 7 151851369 151851369 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 66 151 0 ENST00000262189.6:c.12122C>T p.Pro4041Leu p.P4041L ENST00000262189 NM_170606.2 4041 cCt/cTt 0 -MLL3 UCSF GRCh37 7 151884919 151884919 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 104 73 164 0 ENST00000262189.6:c.4674G>A p.Arg1558= p.R1558= ENST00000262189 NM_170606.2 1558 cgG/cgA 0 -MLL4 UCSF GRCh37 19 36210734 36210734 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 64 138 0 ENST00000222270.7:c.485C>T p.Pro162Leu p.P162L ENST00000222270 NM_014727.1 162 cCt/cTt 0 -MLLT10 UCSF GRCh37 10 21903804 21903804 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 31 92 0 ENST00000307729.7:c.554C>T p.Ala185Val p.A185V ENST00000307729 185 gCc/gTc 0 -MLLT10 UCSF GRCh37 10 21962612 21962612 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 221 100 213 0 ENST00000307729.7:c.1385C>T p.Thr462Ile p.T462I ENST00000307729 462 aCt/aTt 0 -MMACHC UCSF GRCh37 1 45973070 45973070 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 29 46 1 ENST00000401061.4:c.124C>T p.Pro42Ser p.P42S ENST00000401061 NM_015506.2 42 Ccg/Tcg 0 -MMP16 UCSF GRCh37 8 89058896 89058896 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 286 105 196 0 ENST00000286614.6:c.1489+1G>A p.X497_splice ENST00000286614 NM_005941.4 0 -MMP2 UCSF GRCh37 16 55525787 55525787 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 42 81 0 ENST00000219070.4:c.1255G>A p.Ala419Thr p.A419T ENST00000219070 NM_004530.4 419 Gcc/Acc 0 -MMP26 UCSF GRCh37 11 5010920 5010920 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 48 84 0 ENST00000380390.1:c.142C>T p.Leu48Phe p.L48F ENST00000380390 48 Ctc/Ttc 0 -MMRN1 UCSF GRCh37 4 90856881 90856881 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 84 153 0 ENST00000394980.1:c.2050G>A p.Ala684Thr p.A684T ENST00000394980 684 Gct/Act 0 -MMS22L UCSF GRCh37 6 97711230 97711230 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 75 157 0 ENST00000275053.4:c.923G>A p.Ser308Asn p.S308N ENST00000275053 NM_198468.2 308 aGt/aAt 0 -MOCOS UCSF GRCh37 18 33778720 33778720 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 37 96 0 ENST00000261326.5:c.299+1G>A p.X100_splice ENST00000261326 NM_017947.2 0 -MOCS1 UCSF GRCh37 6 39877675 39877675 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 58 123 0 ENST00000373186.4:c.1006G>A p.Val336Ile p.V336I ENST00000373186 NM_005943.5 336 Gta/Ata 0 -MON1A UCSF GRCh37 3 49946495 49946495 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 0 26 73 0 ENST00000296473.3:c.1911C>T p.Ile637= p.I637= ENST00000296473 NM_032355.3 637 atC/atT 0 -MON1B UCSF GRCh37 16 77227388 77227388 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 48 96 0 ENST00000248248.3:c.189G>A p.Pro63= p.P63= ENST00000248248 NM_014940.2 63 ccG/ccA 0 -MPP2 UCSF GRCh37 17 41958890 41958890 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 33 76 0 ENST00000269095.4:c.749G>A p.Gly250Asp p.G250D ENST00000269095 NM_001278374.1 250 gGc/gAc 0 -MPRIP UCSF GRCh37 17 17061919 17061919 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 38 38 0 ENST00000395811.5:c.1649C>T p.Pro550Leu p.P550L ENST00000395811 NM_015134.3 550 cCc/cTc 0 -MRGPRX1 UCSF GRCh37 11 18955369 18955369 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 78 295 0 ENST00000302797.3:c.963G>A p.Glu321= p.E321= ENST00000302797 NM_147199.3 321 gaG/gaA 0 -MRGPRX2 UCSF GRCh37 11 19077859 19077859 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 110 191 0 ENST00000329773.2:c.91C>T p.Leu31= p.L31= ENST00000329773 NM_054030.2 31 Ctg/Ttg 0 -MRGPRX3 UCSF GRCh37 11 18159399 18159399 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 66 142 0 ENST00000396275.2:c.650C>T p.Thr217Ile p.T217I ENST00000396275 NM_054031.3 217 aCc/aTc 0 -MRPL13 UCSF GRCh37 8 121426229 121426229 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 221 53 140 0 ENST00000306185.3:c.515+1G>A p.X172_splice ENST00000306185 NM_014078.5 0 -MRPL39 UCSF GRCh37 21 26960020 26960020 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 46 99 0 ENST00000307301.7:c.1051G>A p.Val351Ile p.V351I ENST00000307301 NM_080794.3 351 Gtc/Atc 0 -MRPL39 UCSF GRCh37 21 26978967 26978967 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 48 102 0 ENST00000307301.7:c.74G>A p.Arg25Lys p.R25K ENST00000307301 NM_080794.3 25 aGa/aAa 0 -MRPL41 UCSF GRCh37 9 140446606 140446606 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 13 20 0 ENST00000371443.5:c.73C>T p.Arg25Trp p.R25W ENST00000371443 NM_032477.2 25 Cgg/Tgg 0 -MRPL51 UCSF GRCh37 12 6602104 6602104 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 87 63 142 0 ENST00000229238.3:c.114C>T p.Leu38= p.L38= ENST00000229238 NM_016497.3 38 ctC/ctT 0 -MRPS22 UCSF GRCh37 3 139065749 139065749 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 80 185 0 ENST00000495075.1:c.202C>T p.Pro68Ser p.P68S ENST00000495075 68 Cct/Tct 0 -MS4A7 UCSF GRCh37 11 60156911 60156911 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 48 115 0 ENST00000300184.3:c.388G>A p.Ala130Thr p.A130T ENST00000300184 NM_206939.1 130 Gca/Aca 0 -MSI2 UCSF GRCh37 17 55693427 55693427 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 94 154 0 ENST00000284073.2:c.634C>T p.Leu212Phe p.L212F ENST00000284073 NM_138962.2 212 Ctt/Ttt 0 -MTA2 UCSF GRCh37 11 62362016 62362016 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 61 143 0 ENST00000278823.2:c.1664G>A p.Gly555Asp p.G555D ENST00000278823 NM_004739.3 555 gGc/gAc 0 -MTA3 UCSF GRCh37 2 42836678 42836678 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 150 113 213 0 ENST00000407270.3:c.271C>T p.Leu91Phe p.L91F ENST00000407270 NM_020744.2 91 Ctc/Ttc 0 -MTBP UCSF GRCh37 8 121457794 121457794 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 167 54 109 0 ENST00000305949.1:c.84G>A p.Glu28= p.E28= ENST00000305949 NM_022045.4 28 gaG/gaA 0 -MTERFD1 UCSF GRCh37 8 97263207 97263207 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 301 98 179 0 ENST00000287025.3:c.604G>A p.Asp202Asn p.D202N ENST00000287025 NM_015942.3 202 Gat/Aat 0 -MTERFD3 UCSF GRCh37 12 107371758 107371758 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 99 177 0 ENST00000552029.1:c.735C>T p.Leu245= p.L245= ENST00000552029 245 ctC/ctT 0 -MTFMT UCSF GRCh37 15 65313862 65313862 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 129 101 197 0 ENST00000220058.4:c.635G>A p.Gly212Asp p.G212D ENST00000220058 NM_139242.3 212 gGt/gAt 0 -MTMR11 UCSF GRCh37 1 149905829 149905829 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 112 127 212 0 ENST00000439741.2:c.690C>T p.Pro230= p.P230= ENST00000439741 NM_001145862.1 230 ccC/ccT 0 -MUC12 UCSF GRCh37 7 100634404 100634404 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 141 112 207 0 ENST00000536621.1:c.560C>T p.Pro187Leu p.P187L ENST00000536621 NM_001164462.1 187 cCa/cTa 0 -MUC12 UCSF GRCh37 7 100636003 100636003 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 305 112 500 0 ENST00000536621.1:c.2159G>A p.Ser720Asn p.S720N ENST00000536621 NM_001164462.1 720 aGc/aAc 0 -MUC16 UCSF GRCh37 19 9065187 9065187 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 113 218 0 ENST00000397910.4:c.22259C>T p.Ala7420Val p.A7420V ENST00000397910 NM_024690.2 7420 gCt/gTt 0 -MUC16 UCSF GRCh37 19 9088766 9088766 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 154 148 234 0 ENST00000397910.4:c.3049C>T p.Pro1017Ser p.P1017S ENST00000397910 NM_024690.2 1017 Cca/Tca 0 -MUC4 UCSF GRCh37 3 195507918 195507918 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 514 109 606 0 ENST00000463781.3:c.10533C>T p.Ser3511= p.S3511= ENST00000463781 NM_018406.6 3511 tcC/tcT 0 -MUC6 UCSF GRCh37 11 1017468 1017468 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 184 90 639 0 ENST00000421673.2:c.5333C>T p.Thr1778Ile p.T1778I ENST00000421673 NM_005961.2 1778 aCc/aTc 0 -MVK UCSF GRCh37 12 110028600 110028600 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 40 95 0 ENST00000228510.3:c.702G>A p.Leu234= p.L234= ENST00000228510 NM_001114185.1 234 ctG/ctA 0 -MYBL1 UCSF GRCh37 8 67478442 67478442 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 65 142 0 ENST00000522677.3:c.1987C>T p.Pro663Ser p.P663S ENST00000522677 NM_001080416.2 663 Cca/Tca 0 -MYBPC2 UCSF GRCh37 19 50940918 50940918 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 65 107 0 ENST00000357701.5:c.515G>A p.Ser172Asn p.S172N ENST00000357701 NM_004533.3 172 aGt/aAt 0 -MYBPH UCSF GRCh37 1 203138040 203138040 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 96 194 0 ENST00000255416.4:c.1411G>A p.Val471Ile p.V471I ENST00000255416 NM_004997.2 471 Gtc/Atc 0 -MYCN UCSF GRCh37 2 16085664 16085664 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 24 46 0 ENST00000281043.3:c.840C>T p.Val280= p.V280= ENST00000281043 NM_005378.4 280 gtC/gtT 0 -MYF6 UCSF GRCh37 12 81101749 81101749 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 56 83 1 ENST00000228641.3:c.251C>T p.Thr84Ile p.T84I ENST00000228641 NM_002469.2 84 aCc/aTc 0 -MYH1 UCSF GRCh37 17 10411716 10411716 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 77 182 0 ENST00000226207.5:c.1861G>A p.Ala621Thr p.A621T ENST00000226207 NM_005963.3 621 Gct/Act 0 -MYH1 UCSF GRCh37 17 10406468 10406468 + missense_variant Missense_Mutation SNP G G T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 54 218 1 ENST00000226207.5:c.2789C>A p.Ala930Asp p.A930D ENST00000226207 NM_005963.3 930 gCt/gAt 0 -MYH1 UCSF GRCh37 17 10411855 10411855 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 119 117 202 0 ENST00000226207.5:c.1722C>T p.Gly574= p.G574= ENST00000226207 NM_005963.3 574 ggC/ggT 0 -MYH14 UCSF GRCh37 19 50764778 50764778 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 13 55 0 ENST00000601313.1:c.2471G>A p.Ser824Asn p.S824N ENST00000601313 NM_001145809.1 824 aGc/aAc 0 -MYH3 UCSF GRCh37 17 10532992 10532992 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 55 157 0 ENST00000583535.1:c.5718G>A p.Glu1906= p.E1906= ENST00000583535 NM_002470.3 1906 gaG/gaA 0 -MYH3 UCSF GRCh37 17 10555770 10555770 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 66 157 0 ENST00000583535.1:c.315C>T p.Asn105= p.N105= ENST00000583535 NM_002470.3 105 aaC/aaT 0 -MYH4 UCSF GRCh37 17 10369707 10369707 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 114 194 0 ENST00000255381.2:c.231C>T p.Val77= p.V77= ENST00000255381 NM_017533.2 77 gtC/gtT 0 -MYH8 UCSF GRCh37 17 10322311 10322311 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 132 75 166 0 ENST00000403437.2:c.247A>G p.Asn83Asp p.N83D ENST00000403437 NM_002472.2 83 Aac/Gac 0 -MYH8 UCSF GRCh37 17 10310022 10310022 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 66 161 0 ENST00000403437.2:c.2156G>A p.Gly719Asp p.G719D ENST00000403437 NM_002472.2 719 gGt/gAt 0 -MYLK3 UCSF GRCh37 16 46766561 46766561 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 18 13 0 ENST00000394809.4:c.1021G>A p.Glu341Lys p.E341K ENST00000394809 NM_182493.2 341 Gag/Aag 0 -MYNN UCSF GRCh37 3 169496819 169496819 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 81 127 0 ENST00000349841.5:c.530C>T p.Ser177Phe p.S177F ENST00000349841 NM_018657.4 177 tCt/tTt 0 -MYO10 UCSF GRCh37 5 16761595 16761595 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 59 127 0 ENST00000513610.1:c.1717C>T p.Leu573Phe p.L573F ENST00000513610 NM_012334.2 573 Ctc/Ttc 0 -MYO15A UCSF GRCh37 17 18077205 18077205 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 28 43 0 ENST00000205890.5:c.10461C>T p.Ala3487= p.A3487= ENST00000205890 NM_016239.3 3487 gcC/gcT 0 -MYO18B UCSF GRCh37 22 26422559 26422559 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 141 219 0 ENST00000335473.7:c.6619G>A p.Asp2207Asn p.D2207N ENST00000335473 NM_032608.5 2207 Gac/Aac 0 -MYO1D UCSF GRCh37 17 31082612 31082612 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 58 130 0 ENST00000318217.5:c.1365C>T p.Ile455= p.I455= ENST00000318217 NM_015194.1 455 atC/atT 0 -MYO1G UCSF GRCh37 7 45010558 45010558 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 14 47 0 ENST00000258787.7:c.947C>T p.Ala316Val p.A316V ENST00000258787 NM_033054.2 316 gCc/gTc 0 -MYO1H UCSF GRCh37 12 109847811 109847811 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 42 91 0 ENST00000310903.5:c.1219C>T p.Gln407Ter p.Q407* ENST00000310903 407 Caa/Taa 0 -MYO5A UCSF GRCh37 15 52611418 52611418 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 73 156 1 ENST00000399231.3:c.4998G>A p.Arg1666= p.R1666= ENST00000399231 NM_000259.3 1666 cgG/cgA 0 -MYO7A UCSF GRCh37 11 76917230 76917230 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 20 66 0 ENST00000409709.3:c.5725C>T p.Pro1909Ser p.P1909S ENST00000409709 NM_000260.3 1909 Cct/Tct 0 -MYO7A UCSF GRCh37 11 76853811 76853811 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 27 55 0 ENST00000409709.3:c.75G>A p.Gly25= p.G25= ENST00000409709 NM_000260.3 25 ggG/ggA 0 -MYO9A UCSF GRCh37 15 72170512 72170512 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 58 142 0 ENST00000356056.5:c.5800G>A p.Glu1934Lys p.E1934K ENST00000356056 NM_006901.3 1934 Gaa/Aaa 0 -MYO9A UCSF GRCh37 15 72122464 72122464 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 114 94 187 0 ENST00000356056.5:c.7026C>T p.Asn2342= p.N2342= ENST00000356056 NM_006901.3 2342 aaC/aaT 0 -MYOG UCSF GRCh37 1 203054982 203054982 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 49 82 0 ENST00000241651.4:c.108G>A p.Glu36= p.E36= ENST00000241651 NM_002479.5 36 gaG/gaA 0 -MYOM2 UCSF GRCh37 8 2017412 2017412 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 49 101 0 ENST00000262113.4:c.669C>T p.Asp223= p.D223= ENST00000262113 NM_003970.2 223 gaC/gaT 0 -MYOM3 UCSF GRCh37 1 24406551 24406551 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 46 104 0 ENST00000374434.3:c.2541G>A p.Gln847= p.Q847= ENST00000374434 NM_152372.3 847 caG/caA 0 -N4BP1 UCSF GRCh37 16 48596018 48596018 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 117 220 1 ENST00000262384.3:c.536C>T p.Pro179Leu p.P179L ENST00000262384 NM_153029.3 179 cCc/cTc 0 -N4BP2 UCSF GRCh37 4 40121568 40121568 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 57 128 0 ENST00000261435.6:c.1837G>A p.Asp613Asn p.D613N ENST00000261435 NM_018177.4 613 Gat/Aat 0 -NAA16 UCSF GRCh37 13 41894916 41894916 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 5 67 139 0 ENST00000379406.3:c.358C>T p.Leu120Phe p.L120F ENST00000379406 NM_024561.4 120 Ctc/Ttc 0 -NAA16 UCSF GRCh37 13 41893038 41893038 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 51 91 0 ENST00000379406.3:c.236G>A p.Ser79Asn p.S79N ENST00000379406 NM_024561.4 79 aGt/aAt 0 -NACA UCSF GRCh37 12 57114999 57114999 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 39 75 0 ENST00000550952.1:c.315C>T p.Asn105= p.N105= ENST00000550952 105 aaC/aaT 0 -NACAD UCSF GRCh37 7 45122972 45122972 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 22 76 0 ENST00000490531.2:c.2807G>A p.Gly936Asp p.G936D ENST00000490531 NM_001146334.1 936 gGt/gAt 0 -NACC1 UCSF GRCh37 19 13246135 13246135 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 32 57 0 ENST00000292431.4:c.114C>T p.Gly38= p.G38= ENST00000292431 NM_052876.3 38 ggC/ggT 0 -NAPG UCSF GRCh37 18 10533534 10533534 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 17 62 0 ENST00000322897.6:c.211C>T p.Leu71Phe p.L71F ENST00000322897 NM_003826.2 71 Ctt/Ttt 0 -NAPRT1 UCSF GRCh37 8 144660099 144660099 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 19 43 0 ENST00000449291.2:c.241G>A p.Ala81Thr p.A81T ENST00000449291 81 Gcc/Acc 0 -NAPRT1 UCSF GRCh37 8 144657681 144657681 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 115 26 68 0 ENST00000449291.2:c.1203G>A p.Gly401= p.G401= ENST00000449291 401 ggG/ggA 0 -NARS2 UCSF GRCh37 11 78282414 78282414 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 42 103 0 ENST00000281038.5:c.217C>T p.Leu73Phe p.L73F ENST00000281038 NM_001243251.1 73 Ctt/Ttt 0 -NBAS UCSF GRCh37 2 15629017 15629017 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 103 214 0 ENST00000281513.5:c.1083+1G>A p.X361_splice ENST00000281513 NM_015909.3 0 -NBAS UCSF GRCh37 2 15601325 15601325 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 62 143 0 ENST00000281513.5:c.2339G>A p.Cys780Tyr p.C780Y ENST00000281513 NM_015909.3 780 tGt/tAt 0 -NBEA UCSF GRCh37 13 36180590 36180590 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 73 178 0 ENST00000400445.3:c.7324C>T p.Pro2442Ser p.P2442S ENST00000400445 NM_015678.4 2442 Cca/Tca 0 -NBEA UCSF GRCh37 13 35747630 35747630 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 4 70 158 0 ENST00000400445.3:c.4453G>A p.Glu1485Lys p.E1485K ENST00000400445 NM_015678.4 1485 Gaa/Aaa 0 -NBEAL2 UCSF GRCh37 3 47041495 47041495 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 61 89 0 ENST00000450053.3:c.3906C>T p.Pro1302= p.P1302= ENST00000450053 NM_015175.2 1302 ccC/ccT 0 -NBPF1 UCSF GRCh37 1 16902964 16902964 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 546 63 861 0 ENST00000430580.2:c.1917C>T p.Val639= p.V639= ENST00000430580 NM_017940.4 639 gtC/gtT 0 -NCAN UCSF GRCh37 19 19330107 19330107 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 14 17 0 ENST00000252575.6:c.457G>A p.Val153Met p.V153M ENST00000252575 NM_004386.2 153 Gtg/Atg 0 -NCAN UCSF GRCh37 19 19339079 19339079 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 75 127 0 ENST00000252575.6:c.2650G>A p.Val884Ile p.V884I ENST00000252575 NM_004386.2 884 Gtt/Att 0 -NCAPD2 UCSF GRCh37 12 6626819 6626819 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 49 44 121 0 ENST00000315579.5:c.1378A>G p.Met460Val p.M460V ENST00000315579 NM_014865.3 460 Atg/Gtg 0 -NCAPD2 UCSF GRCh37 12 6626830 6626830 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 38 110 0 ENST00000315579.5:c.1389G>A p.Gln463= p.Q463= ENST00000315579 NM_014865.3 463 caG/caA 0 -NCAPD2 UCSF GRCh37 12 6634766 6634766 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 56 109 0 ENST00000315579.5:c.2232G>A p.Gln744= p.Q744= ENST00000315579 NM_014865.3 744 caG/caA 0 -NCAPG2 UCSF GRCh37 7 158445019 158445019 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 156 110 194 0 ENST00000409423.1:c.2900G>A p.Arg967Gln p.R967Q ENST00000409423 NM_001281932.1 967 cGg/cAg 0 -NCF2 UCSF GRCh37 1 183559494 183559494 + 5_prime_UTR_variant 5'UTR SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 48 72 0 ENST00000367535.3:c.-30C>T *10* ENST00000367535 NM_000433.3 0 -NCF2 UCSF GRCh37 1 183532372 183532372 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 53 132 0 ENST00000367535.3:c.1248G>A p.Gln416= p.Q416= ENST00000367535 NM_000433.3 416 caG/caA 0 -NCKAP1L UCSF GRCh37 12 54929930 54929930 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 79 56 154 0 ENST00000293373.6:c.2974G>A p.Glu992Lys p.E992K ENST00000293373 NM_005337.4 992 Gag/Aag 0 -NCLN UCSF GRCh37 19 3207468 3207468 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 51 70 0 ENST00000246117.4:c.1632+1G>A p.X544_splice ENST00000246117 NM_020170.3 0 -NCOR1 UCSF GRCh37 17 16042446 16042446 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 18 79 0 ENST00000268712.3:c.1228G>A p.Ala410Thr p.A410T ENST00000268712 NM_006311.3 410 Gca/Aca 0 -NDUFA5 UCSF GRCh37 7 123190599 123190599 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 98 159 0 ENST00000355749.2:c.108G>A p.Glu36= p.E36= ENST00000355749 NM_005000.2 36 gaG/gaA 0 -NDUFA8 UCSF GRCh37 9 124906657 124906657 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 121 45 120 0 ENST00000373768.3:c.382G>A p.Val128Ile p.V128I ENST00000373768 NM_014222.2 128 Gtc/Atc 0 -NDUFB1 UCSF GRCh37 14 92583900 92583900 + missense_variant Missense_Mutation SNP C C G NOVEL P10_Rec Untested WXS Illumina HiSeq 50 45 110 0 ENST00000329559.3:c.223G>C p.Asp75His p.D75H ENST00000329559 NM_004545.3 75 Gac/Cac 0 -NDUFB8 UCSF GRCh37 10 102286283 102286283 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 53 100 0 ENST00000299166.4:c.341G>A p.Arg114Lys p.R114K ENST00000299166 NM_005004.2 114 aGg/aAg 0 -NDUFB9 UCSF GRCh37 8 125551466 125551466 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 178 58 112 0 ENST00000276689.3:c.39G>A p.Gln13= p.Q13= ENST00000276689 NM_001278646.1 13 caG/caA 0 -NEB UCSF GRCh37 2 152550904 152550904 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0011 P10_Rec Untested WXS Illumina HiSeq 156 139 243 0 ENST00000397345.3:c.1829G>A p.Gly610Glu p.G610E ENST00000397345 NM_001164508.1 610 gGa/gAa 0 -NEB UCSF GRCh37 2 152490274 152490274 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 134 131 220 0 ENST00000397345.3:c.9308C>T p.Thr3103Ile p.T3103I ENST00000397345 NM_001164508.1 3103 aCc/aTc 0 -NEGR1 UCSF GRCh37 1 72400806 72400806 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 46 97 0 ENST00000357731.5:c.365C>T p.Thr122Ile p.T122I ENST00000357731 NM_173808.2 122 aCt/aTt 0 -NEIL1 UCSF GRCh37 15 75641296 75641296 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 30 53 0 ENST00000564784.1:c.50C>T p.Ala17Val p.A17V ENST00000564784 17 gCc/gTc 0 -NEK6 UCSF GRCh37 9 127101923 127101923 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 85 103 0 ENST00000373600.3:c.798C>T p.Ser266= p.S266= ENST00000373600 NM_001145001.2 266 tcC/tcT 0 -NES UCSF GRCh37 1 156640343 156640343 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 76 144 0 ENST00000368223.3:c.3637G>A p.Asp1213Asn p.D1213N ENST00000368223 NM_006617.1 1213 Gat/Aat 0 -NES UCSF GRCh37 1 156642923 156642923 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 32 71 0 ENST00000368223.3:c.1057C>T p.Pro353Ser p.P353S ENST00000368223 NM_006617.1 353 Cca/Tca 0 -NET1 UCSF GRCh37 10 5488735 5488735 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 115 50 96 0 ENST00000355029.4:c.256-5058G>A *86* ENST00000355029 NM_001047160.2 0 -NEURL4 UCSF GRCh37 17 7227496 7227496 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 48 99 0 ENST00000399464.2:c.1993C>T p.Pro665Ser p.P665S ENST00000399464 NM_032442.2 665 Ccc/Tcc 0 -NFAT5 UCSF GRCh37 16 69727984 69727984 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 95 60 140 0 ENST00000432919.1:c.4256C>T p.Pro1419Leu p.P1419L ENST00000432919 NM_138713.3 1419 cCt/cTt 0 -NFATC2 UCSF GRCh37 20 50049043 50049043 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 24 30 0 ENST00000396009.3:c.2283C>T p.Ser761= p.S761= ENST00000396009 NM_001258297.1 761 agC/agT 0 -NFKB1 UCSF GRCh37 4 103528456 103528456 + missense_variant Missense_Mutation SNP G G A snp132_rs111293796 P10_Rec Untested WXS Illumina HiSeq 71 69 113 0 ENST00000226574.4:c.2104G>A p.Ala702Thr p.A702T ENST00000226574 NM_003998.3 702 Gca/Aca 0 -NFKB2 UCSF GRCh37 10 104156010 104156010 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 41 80 0 ENST00000369966.3:c.22G>A p.Gly8Ser p.G8S ENST00000369966 NM_001077494.2 8 Ggt/Agt 0 -NFRKB UCSF GRCh37 11 129755479 129755479 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 43 70 0 ENST00000524794.1:c.530G>A p.Ser177Asn p.S177N ENST00000524794 177 aGt/aAt 0 -NFYA UCSF GRCh37 6 41048556 41048556 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 44 108 0 ENST00000341376.6:c.82G>A p.Gly28Ser p.G28S ENST00000341376 NM_002505.4 28 Ggt/Agt 0 -NGFR UCSF GRCh37 17 47590187 47590187 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 42 87 0 ENST00000172229.3:c.1100G>A p.Gly367Asp p.G367D ENST00000172229 NM_002507.3 367 gGc/gAc 0 -NID2 UCSF GRCh37 14 52496330 52496330 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 59 121 0 ENST00000216286.5:c.2336G>A p.Gly779Glu p.G779E ENST00000216286 NM_007361.3 779 gGg/gAg 0 -NINJ2 UCSF GRCh37 12 772650 772650 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 66 130 0 ENST00000305108.4:c.15C>T p.Ser5= p.S5= ENST00000305108 NM_016533.4 5 tcC/tcT 0 -NKAPL UCSF GRCh37 6 28227951 28227951 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 36 96 0 ENST00000343684.3:c.802C>T p.Gln268Ter p.Q268* ENST00000343684 NM_001007531.2 268 Cag/Tag 0 -NLGN4X UCSF GRCh37 X 5947330 5947330 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 89 177 0 ENST00000381095.3:c.616G>A p.Gly206Arg p.G206R ENST00000381095 NM_181332.1 206 Gga/Aga 0 -NLGN4X UCSF GRCh37 X 5821576 5821576 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 55 150 0 ENST00000381095.3:c.1143C>T p.Asp381= p.D381= ENST00000381095 NM_181332.1 381 gaC/gaT 0 -NLRP4 UCSF GRCh37 19 56390315 56390315 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 27 60 0 ENST00000301295.6:c.2852C>T p.Ala951Val p.A951V ENST00000301295 NM_134444.4 951 gCc/gTc 0 -NLRP4 UCSF GRCh37 19 56370596 56370596 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 49 179 0 ENST00000301295.6:c.1837G>A p.Glu613Lys p.E613K ENST00000301295 NM_134444.4 613 Gag/Aag 0 -NLRX1 UCSF GRCh37 11 119054035 119054035 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 52 111 0 ENST00000409109.1:c.2815G>A p.Asp939Asn p.D939N ENST00000409109 NM_001282144.1 939 Gat/Aat 0 -NLRX1 UCSF GRCh37 11 119052980 119052980 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 58 88 0 ENST00000409109.1:c.2532C>T p.Tyr844= p.Y844= ENST00000409109 NM_001282144.1 844 taC/taT 0 -NME4 UCSF GRCh37 16 450246 450246 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 46 127 0 ENST00000219479.2:c.468G>A p.Val156= p.V156= ENST00000219479 NM_005009.2 156 gtG/gtA 0 -NOC2L UCSF GRCh37 1 894347 894347 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 44 60 0 ENST00000327044.6:c.141C>T p.Ala47= p.A47= ENST00000327044 NM_015658.3 47 gcC/gcT 0 -NOD2 UCSF GRCh37 16 50745116 50745116 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 69 96 0 ENST00000300589.2:c.1294G>A p.Ala432Thr p.A432T ENST00000300589 NM_022162.1 432 Gcg/Acg 0 -NOL8 UCSF GRCh37 9 95083950 95083950 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 13 41 0 ENST00000545558.1:c.281G>A p.Arg94Lys p.R94K ENST00000545558 94 aGa/aAa 0 -NONO UCSF GRCh37 X 70510605 70510605 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 53 110 0 ENST00000276079.8:c.118C>T p.Pro40Ser p.P40S ENST00000276079 NM_007363.4 40 Cca/Tca 0 -NONO UCSF GRCh37 X 70518341 70518341 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 110 196 0 ENST00000276079.8:c.1154G>A p.Gly385Asp p.G385D ENST00000276079 NM_007363.4 385 gGt/gAt 0 -NOP2 UCSF GRCh37 12 6677046 6677046 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 62 102 0 ENST00000382421.3:c.39G>A p.Gly13= p.G13= ENST00000382421 NM_001258309.1 13 ggG/ggA 0 -NOTCH1 UCSF GRCh37 9 139395012 139395012 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 47 76 0 ENST00000277541.6:c.5926G>A p.Val1976Ile p.V1976I ENST00000277541 NM_017617.3 1976 Gtc/Atc 0 -NOTCH2 UCSF GRCh37 1 120466339 120466339 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 51 137 0 ENST00000256646.2:c.4780G>A p.Gly1594Ser p.G1594S ENST00000256646 NM_024408.3 1594 Ggt/Agt 0 -NOTCH4 UCSF GRCh37 6 32168734 32168734 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 38 65 0 ENST00000375023.3:c.4189C>T p.Pro1397Ser p.P1397S ENST00000375023 NM_004557.3 1397 Ccg/Tcg 0 -NOTCH4 UCSF GRCh37 6 32187934 32187934 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 45 66 0 ENST00000375023.3:c.1287C>T p.Cys429= p.C429= ENST00000375023 NM_004557.3 429 tgC/tgT 0 -NPAS1 UCSF GRCh37 19 47535576 47535576 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 30 72 0 ENST00000602212.1:c.399C>T p.Val133= p.V133= ENST00000602212 133 gtC/gtT 0 -NPAS2 UCSF GRCh37 2 101606778 101606778 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 59 101 0 ENST00000335681.5:c.1888C>T p.Leu630= p.L630= ENST00000335681 NM_002518.3 630 Cta/Tta 0 -NPC2 UCSF GRCh37 14 74953067 74953067 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 16 14 33 0 ENST00000555619.1:c.155G>A p.Gly52Glu p.G52E ENST00000555619 NM_006432.3 52 gGa/gAa 0 -NPEPL1 UCSF GRCh37 20 57288599 57288599 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 29 59 0 ENST00000356091.6:c.1125G>A p.Gln375= p.Q375= ENST00000356091 NM_024663.3 375 caG/caA 0 -NPHP3 UCSF GRCh37 3 132419247 132419247 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 96 80 202 0 ENST00000337331.5:c.1674C>T p.Ser558= p.S558= ENST00000337331 NM_153240.4 558 tcC/tcT 0 -NPHS2 UCSF GRCh37 1 179521766 179521766 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 28 61 0 ENST00000367615.4:c.845C>T p.Ala282Val p.A282V ENST00000367615 NM_014625.2 282 gCt/gTt 0 -NPM3 UCSF GRCh37 10 103541607 103541607 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 81 172 0 ENST00000370110.5:c.423G>A p.Thr141= p.T141= ENST00000370110 NM_006993.2 141 acG/acA 0 -NPR2 UCSF GRCh37 9 35806481 35806481 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 65 131 0 ENST00000342694.2:c.2465C>T p.Ala822Val p.A822V ENST00000342694 NM_003995.3 822 gCc/gTc 0 -NQO2 UCSF GRCh37 6 3019826 3019826 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 60 110 0 ENST00000338130.2:c.633G>A p.Arg211= p.R211= ENST00000338130 211 agG/agA 0 -NR1H2 UCSF GRCh37 19 50880868 50880868 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 41 99 0 ENST00000253727.5:c.6C>T p.Ser2= p.S2= ENST00000253727 NM_007121.5 2 tcC/tcT 0 -NR1I2 UCSF GRCh37 3 119529028 119529028 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 12 34 0 ENST00000337940.4:c.435C>T p.Gly145= p.G145= ENST00000337940 NM_022002.2 145 ggC/ggT 0 -NR1I3 UCSF GRCh37 1 161199705 161199705 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 48 114 0 ENST00000367980.2:c.956C>T p.Ala319Val p.A319V ENST00000367980 NM_001077481.2 319 gCg/gTg 0 -NRIP1 UCSF GRCh37 21 16338166 16338166 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 82 169 0 ENST00000400202.1:c.2348G>A p.Gly783Asp p.G783D ENST00000400202 783 gGt/gAt 0 -NRK UCSF GRCh37 X 105139427 105139427 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 114 138 0 ENST00000428173.2:c.491G>A p.Gly164Asp p.G164D ENST00000428173 164 gGc/gAc 0 -NRXN1 UCSF GRCh37 2 50149265 50149265 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 62 132 0 ENST00000404971.1:c.4461C>T p.Ile1487= p.I1487= ENST00000404971 NM_001135659.1 1487 atC/atT 0 -NRXN2 UCSF GRCh37 11 64418013 64418013 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 75 140 0 ENST00000265459.6:c.3016G>A p.Val1006Met p.V1006M ENST00000265459 NM_015080.3 1006 Gtg/Atg 0 -NSD1 UCSF GRCh37 5 176562676 176562676 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 98 222 0 ENST00000439151.2:c.572C>T p.Ala191Val p.A191V ENST00000439151 NM_022455.4 191 gCc/gTc 0 -NSD1 UCSF GRCh37 5 176562370 176562370 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 76 168 0 ENST00000439151.2:c.266G>A p.Gly89Glu p.G89E ENST00000439151 NM_022455.4 89 gGg/gAg 0 -NSF UCSF GRCh37 17 44788375 44788375 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 59 166 0 ENST00000398238.4:c.1517G>A p.Gly506Asp p.G506D ENST00000398238 NM_006178.3 506 gGt/gAt 0 -NSUN7 UCSF GRCh37 4 40778101 40778101 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 43 161 0 ENST00000381782.2:c.861G>A p.Lys287= p.K287= ENST00000381782 NM_024677.4 287 aaG/aaA 0 -NT5C2 UCSF GRCh37 10 104934647 104934647 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 88 177 0 ENST00000343289.5:c.69C>T p.Ala23= p.A23= ENST00000343289 NM_012229.4 23 gcC/gcT 0 -NTNG2 UCSF GRCh37 9 135073502 135073502 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 35 90 0 ENST00000393229.3:c.363C>T p.Ala121= p.A121= ENST00000393229 NM_032536.2 121 gcC/gcT 0 -NTRK2 UCSF GRCh37 9 87482194 87482194 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 167 89 150 0 ENST00000277120.3:c.1481C>T p.Ala494Val p.A494V ENST00000277120 494 gCc/gTc 0 -NUDT21 UCSF GRCh37 16 56481862 56481862 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 59 122 0 ENST00000300291.5:c.156C>T p.Pro52= p.P52= ENST00000300291 NM_007006.2 52 ccC/ccT 0 -NUMB UCSF GRCh37 14 73749202 73749202 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 39 64 0 ENST00000355058.3:c.961G>A p.Glu321Lys p.E321K ENST00000355058 321 Gaa/Aaa 0 -NUMB UCSF GRCh37 14 73789900 73789900 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 34 88 0 ENST00000355058.3:c.139G>A p.Val47Ile p.V47I ENST00000355058 47 Gta/Ata 0 -NUP107 UCSF GRCh37 12 69125440 69125440 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 48 130 0 ENST00000229179.4:c.1939G>A p.Asp647Asn p.D647N ENST00000229179 NM_020401.2 647 Gat/Aat 0 -NUP107 UCSF GRCh37 12 69125424 69125424 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 44 110 0 ENST00000229179.4:c.1923G>A p.Glu641= p.E641= ENST00000229179 NM_020401.2 641 gaG/gaA 0 -NUP133 UCSF GRCh37 1 229588355 229588355 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 53 131 0 ENST00000261396.3:c.3016G>A p.Glu1006Lys p.E1006K ENST00000261396 NM_018230.2 1006 Gag/Aag 0 -NUP133 UCSF GRCh37 1 229643896 229643896 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 20 43 0 ENST00000261396.3:c.101G>A p.Arg34Lys p.R34K ENST00000261396 NM_018230.2 34 aGg/aAg 0 -NUP153 UCSF GRCh37 6 17661921 17661921 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 79 215 0 ENST00000262077.2:c.1358G>A p.Arg453Lys p.R453K ENST00000262077 NM_001278210.1 453 aGa/aAa 0 -NUP155 UCSF GRCh37 5 37328498 37328498 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 45 121 0 ENST00000231498.3:c.1838C>T p.Pro613Leu p.P613L ENST00000231498 NM_153485.2 613 cCc/cTc 0 -NUP210 UCSF GRCh37 3 13432778 13432778 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 21 55 0 ENST00000254508.5:c.466G>A p.Val156Ile p.V156I ENST00000254508 NM_024923.3 156 Gtc/Atc 0 -NUP88 UCSF GRCh37 17 5290097 5290097 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 120 86 220 0 ENST00000573584.1:c.2093G>A p.Ser698Asn p.S698N ENST00000573584 NM_002532.4 698 aGt/aAt 0 -NXF1 UCSF GRCh37 11 62563641 62563641 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 92 185 0 ENST00000532297.1:c.1358G>A p.Arg453Gln p.R453Q ENST00000532297 453 cGg/cAg 0 -NXF3 UCSF GRCh37 X 102334323 102334323 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 142 124 237 1 ENST00000395065.3:c.1299C>T p.Asp433= p.D433= ENST00000395065 NM_022052.1 433 gaC/gaT 0 -NXNL1 UCSF GRCh37 19 17566756 17566756 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 10 21 0 ENST00000301944.2:c.339C>T p.Arg113= p.R113= ENST00000301944 NM_138454.1 113 cgC/cgT 0 -OAS1 UCSF GRCh37 12 113354501 113354501 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 69 175 0 ENST00000445409.2:c.842C>T p.Pro281Leu p.P281L ENST00000445409 NM_001032409.1 281 cCc/cTc 0 -OAS1 UCSF GRCh37 12 113354419 113354419 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 65 137 0 ENST00000445409.2:c.760G>A p.Gly254Arg p.G254R ENST00000445409 NM_001032409.1 254 Gga/Aga 0 -OBSCN UCSF GRCh37 1 228461576 228461576 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 24 43 0 ENST00000570156.2:c.6368C>T p.Ala2123Val p.A2123V ENST00000570156 NM_001271223.2 2123 gCc/gTc 0 -OBSCN UCSF GRCh37 1 228522236 228522236 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 15 16 0 ENST00000570156.2:c.18949C>T p.Pro6317Ser p.P6317S ENST00000570156 NM_001271223.2 6317 Cct/Tct 0 -OBSCN UCSF GRCh37 1 228552705 228552705 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 9 23 0 ENST00000570156.2:c.21736C>T p.Pro7246Ser p.P7246S ENST00000570156 NM_001271223.2 7246 Ccc/Tcc 0 -OBSCN UCSF GRCh37 1 228557687 228557687 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 33 73 0 ENST00000570156.2:c.22883C>T p.Thr7628Ile p.T7628I ENST00000570156 NM_001271223.2 7628 aCc/aTc 0 -OBSCN UCSF GRCh37 1 228559004 228559004 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 10 25 0 ENST00000570156.2:c.23396C>T p.Ser7799Phe p.S7799F ENST00000570156 NM_001271223.2 7799 tCc/tTc 0 -OBSCN UCSF GRCh37 1 228432260 228432260 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 91 161 0 ENST00000570156.2:c.3745C>T p.Leu1249= p.L1249= ENST00000570156 NM_001271223.2 1249 Ctg/Ttg 0 -OBSL1 UCSF GRCh37 2 220423059 220423059 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 15 28 0 ENST00000404537.1:c.3349G>A p.Asp1117Asn p.D1117N ENST00000404537 NM_015311.2 1117 Gac/Aac 0 -OCRL UCSF GRCh37 X 128691333 128691333 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 50 123 0 ENST00000371113.4:c.270G>A p.Trp90Ter p.W90* ENST00000371113 NM_000276.3 90 tgG/tgA 0 -ODF3L2 UCSF GRCh37 19 463950 463950 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 17 28 0 ENST00000315489.4:c.764C>T p.Ala255Val p.A255V ENST00000315489 NM_182577.2 255 gCt/gTt 0 -ODZ1 UCSF GRCh37 X 123539019 123539019 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 74 141 0 ENST00000422452.2:c.5253C>T p.Ile1751= p.I1751= ENST00000422452 NM_001163279.1 1751 atC/atT 0 -ODZ1 UCSF GRCh37 X 123540204 123540204 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 116 116 198 0 ENST00000422452.2:c.5118C>T p.Asn1706= p.N1706= ENST00000422452 NM_001163279.1 1706 aaC/aaT 0 -ODZ1 UCSF GRCh37 X 123556420 123556420 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 70 169 0 ENST00000422452.2:c.4173C>T p.Asn1391= p.N1391= ENST00000422452 NM_001163279.1 1391 aaC/aaT 0 -ODZ2 UCSF GRCh37 5 167689120 167689120 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 64 128 0 ENST00000518659.1:c.7630G>A p.Val2544Ile p.V2544I ENST00000518659 NM_001122679.1 2544 Gtc/Atc 0 -ODZ3 UCSF GRCh37 4 183664402 183664402 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 100 202 0 ENST00000511685.1:c.3459G>A p.Gly1153= p.G1153= ENST00000511685 1153 ggG/ggA 0 -ODZ4 UCSF GRCh37 11 78433848 78433848 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 71 169 0 ENST00000278550.7:c.3665G>A p.Gly1222Asp p.G1222D ENST00000278550 NM_001098816.2 1222 gGc/gAc 0 -OFD1 UCSF GRCh37 X 13764556 13764556 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 105 209 0 ENST00000340096.6:c.636G>A p.Arg212= p.R212= ENST00000340096 NM_003611.2 212 cgG/cgA 0 -OGDHL UCSF GRCh37 10 50948755 50948755 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 19 46 0 ENST00000374103.4:c.2140+1G>A p.X714_splice ENST00000374103 NM_018245.2 0 -OGT UCSF GRCh37 X 70757678 70757678 + splice_acceptor_variant Splice_Site SNP G G T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 81 167 0 ENST00000373719.3:c.219-1G>T p.X73_splice ENST00000373719 NM_181673.2 0 -OPLAH UCSF GRCh37 8 145109807 145109807 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 25 50 0 ENST00000426825.1:c.2419C>T p.Leu807= p.L807= ENST00000426825 NM_017570.3 807 Ctg/Ttg 0 -OR10G2 UCSF GRCh37 14 22102456 22102456 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 80 169 0 ENST00000542433.1:c.543C>T p.Tyr181= p.Y181= ENST00000542433 NM_001005466.1 181 taC/taT 0 -OR10G9 UCSF GRCh37 11 123894090 123894090 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 62 170 0 ENST00000375024.1:c.371C>T p.Ala124Val p.A124V ENST00000375024 NM_001001953.1 124 gCc/gTc 0 -OR10K1 UCSF GRCh37 1 158435940 158435940 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 133 201 0 ENST00000289451.2:c.589C>T p.Leu197= p.L197= ENST00000289451 NM_001004473.1 197 Ctg/Ttg 0 -OR10K1 UCSF GRCh37 1 158436158 158436158 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 107 209 0 ENST00000289451.2:c.807C>T p.Ser269= p.S269= ENST00000289451 NM_001004473.1 269 agC/agT 0 -OR13C8 UCSF GRCh37 9 107331735 107331735 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 179 107 195 0 ENST00000335040.1:c.287G>A p.Gly96Glu p.G96E ENST00000335040 NM_001004483.1 96 gGg/gAg 0 -OR2G6 UCSF GRCh37 1 248684977 248684977 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 105 87 183 0 ENST00000343414.4:c.30G>A p.Lys10= p.K10= ENST00000343414 NM_001013355.1 10 aaG/aaA 0 -OR2J3 UCSF GRCh37 6 29080164 29080164 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 115 118 210 0 ENST00000377169.1:c.497C>T p.Thr166Ile p.T166I ENST00000377169 NM_001005216.3 166 aCc/aTc 0 -OR2T27 UCSF GRCh37 1 248814051 248814051 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 11 110 0 ENST00000344889.3:c.135G>A p.Lys45= p.K45= ENST00000344889 NM_001001824.1 45 aaG/aaA 0 -OR4B1 UCSF GRCh37 11 48238562 48238562 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 110 199 0 ENST00000309562.2:c.201G>A p.Val67= p.V67= ENST00000309562 NM_001005470.1 67 gtG/gtA 0 -OR4C3 UCSF GRCh37 11 48347418 48347418 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 18 253 0 ENST00000319856.4:c.926C>T p.Pro309Leu p.P309L ENST00000319856 NM_001004702.1 309 cCa/cTa 0 -OR4K13 UCSF GRCh37 14 20502272 20502272 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 79 161 0 ENST00000315693.2:c.646G>A p.Val216Ile p.V216I ENST00000315693 NM_001004714.1 216 Gtc/Atc 0 -OR4N4 UCSF GRCh37 15 22382483 22382483 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 206 96 236 0 ENST00000328795.4:c.11C>T p.Ala4Val p.A4V ENST00000328795 NM_001005241.2 4 gCa/gTa 0 -OR4Q3 UCSF GRCh37 14 20216283 20216283 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 179 84 202 1 ENST00000331723.1:c.697G>A p.Gly233Ser p.G233S ENST00000331723 NM_172194.1 233 Ggc/Agc 0 -OR51L1 UCSF GRCh37 11 5020514 5020514 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 121 187 0 ENST00000321543.1:c.302C>T p.Ala101Val p.A101V ENST00000321543 NM_001004755.1 101 gCt/gTt 0 -OR52A5 UCSF GRCh37 11 5153120 5153120 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 93 193 0 ENST00000307388.1:c.753C>T p.Phe251= p.F251= ENST00000307388 NM_001005160.2 251 ttC/ttT 0 -OR5AK2 UCSF GRCh37 11 56757227 56757227 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 79 173 0 ENST00000326855.2:c.839C>T p.Thr280Ile p.T280I ENST00000326855 NM_001005323.1 280 aCa/aTa 0 -OR5L2 UCSF GRCh37 11 55595176 55595176 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 138 221 0 ENST00000378397.1:c.482C>T p.Ser161Phe p.S161F ENST00000378397 NM_001004739.1 161 tCc/tTc 0 -OR5P3 UCSF GRCh37 11 7847083 7847083 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 80 174 0 ENST00000328375.1:c.437G>A p.Gly146Asp p.G146D ENST00000328375 NM_153445.1 146 gGc/gAc 0 -OR6S1 UCSF GRCh37 14 21109787 21109787 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 99 102 195 0 ENST00000320704.3:c.64C>T p.Leu22Phe p.L22F ENST00000320704 NM_001001968.1 22 Ctc/Ttc 0 -OR6T1 UCSF GRCh37 11 123813611 123813611 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 118 104 216 0 ENST00000321252.2:c.935C>T p.Ala312Val p.A312V ENST00000321252 NM_001005187.1 312 gCt/gTt 0 -OR7C2 UCSF GRCh37 19 15053082 15053082 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 90 186 0 ENST00000248072.3:c.782C>T p.Ser261Phe p.S261F ENST00000248072 NM_012377.1 261 tCt/tTt 0 -OR9K2 UCSF GRCh37 12 55524499 55524499 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 79 168 0 ENST00000305377.5:c.947G>A p.Arg316Lys p.R316K ENST00000305377 NM_001005243.1 316 aGg/aAg 0 -OR9Q1 UCSF GRCh37 11 57947297 57947297 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 60 159 0 ENST00000335397.3:c.381C>T p.Cys127= p.C127= ENST00000335397 NM_001005212.3 127 tgC/tgT 0 -ORC1 UCSF GRCh37 1 52840505 52840505 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 23 87 0 ENST00000371568.3:c.2368C>T p.Leu790= p.L790= ENST00000371568 NM_001190818.1 790 Ctg/Ttg 0 -OSBP UCSF GRCh37 11 59344079 59344079 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 137 130 240 0 ENST00000263847.1:c.2395G>A p.Asp799Asn p.D799N ENST00000263847 NM_002556.2 799 Gac/Aac 0 -OSBPL9 UCSF GRCh37 1 52231629 52231629 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 65 142 0 ENST00000447887.1:c.944G>A p.Gly315Asp p.G315D ENST00000447887 315 gGc/gAc 0 -OTC UCSF GRCh37 X 38271253 38271253 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 114 89 223 0 ENST00000039007.4:c.1005+1G>A p.X335_splice ENST00000039007 NM_000531.5 0 -OTC UCSF GRCh37 X 38229063 38229063 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 56 134 0 ENST00000039007.4:c.231G>A p.Leu77= p.L77= ENST00000039007 NM_000531.5 77 ttG/ttA 0 -OTOF UCSF GRCh37 2 26690087 26690087 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 78 113 0 ENST00000272371.2:c.4242G>A p.Glu1414= p.E1414= ENST00000272371 NM_194248.2 1414 gaG/gaA 0 -OTOF UCSF GRCh37 2 26696403 26696403 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 31 70 0 ENST00000272371.2:c.3441G>A p.Arg1147= p.R1147= ENST00000272371 NM_194248.2 1147 cgG/cgA 0 -OTOL1 UCSF GRCh37 3 161214879 161214879 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 138 95 243 0 ENST00000327928.4:c.284C>T p.Ala95Val p.A95V ENST00000327928 NM_001080440.1 95 gCt/gTt 0 -OTOP2 UCSF GRCh37 17 72927040 72927040 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 67 96 0 ENST00000331427.4:c.1310C>T p.Thr437Ile p.T437I ENST00000331427 NM_178160.2 437 aCc/aTc 0 -OTUD7B UCSF GRCh37 1 149931686 149931686 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 68 131 0 ENST00000369135.4:c.762G>A p.Trp254Ter p.W254* ENST00000369135 NM_020205.3 254 tgG/tgA 0 -P2RY11 UCSF GRCh37 19 10225389 10225389 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 31 64 0 ENST00000321826.4:c.1100C>T p.Pro367Leu p.P367L ENST00000321826 NM_002566.4 367 cCc/cTc 0 -P2RY2 UCSF GRCh37 11 72945864 72945864 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 34 56 0 ENST00000311131.2:c.660C>T p.Leu220= p.L220= ENST00000311131 NM_176072.2 220 ctC/ctT 0 -P2RY2 UCSF GRCh37 11 72946126 72946126 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 62 98 0 ENST00000311131.2:c.922C>T p.Leu308= p.L308= ENST00000311131 NM_176072.2 308 Ctg/Ttg 0 -PABPC3 UCSF GRCh37 13 25671444 25671444 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 133 87 194 0 ENST00000281589.3:c.1108C>T p.Arg370Cys p.R370C ENST00000281589 NM_030979.2 370 Cgc/Tgc 0 -PABPC4 UCSF GRCh37 1 40038140 40038140 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 94 76 183 0 ENST00000372858.3:c.312G>A p.Lys104= p.K104= ENST00000372858 NM_001135653.1 104 aaG/aaA 0 -PACRGL UCSF GRCh37 4 20706157 20706157 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 39 112 0 ENST00000503585.1:c.52+1G>A p.X18_splice ENST00000503585 NM_001258345.1 0 -PADI3 UCSF GRCh37 1 17592181 17592181 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 46 147 0 ENST00000375460.3:c.374G>A p.Cys125Tyr p.C125Y ENST00000375460 NM_016233.2 125 tGt/tAt 0 -PAF1 UCSF GRCh37 19 39880350 39880350 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 92 146 0 ENST00000221265.3:c.222C>T p.Leu74= p.L74= ENST00000221265 NM_019088.3 74 ctC/ctT 0 -PAK1 UCSF GRCh37 11 77064613 77064613 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 61 160 0 ENST00000356341.3:c.804G>A p.Lys268= p.K268= ENST00000356341 NM_002576.4 268 aaG/aaA 0 -PAK7 UCSF GRCh37 20 9561506 9561506 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 74 172 0 ENST00000353224.5:c.276C>T p.Ile92= p.I92= ENST00000353224 NM_177990.2 92 atC/atT 0 -PALM3 UCSF GRCh37 19 14166215 14166215 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 6 26 0 ENST00000340790.4:c.377C>T p.Ser126Phe p.S126F ENST00000340790 NM_001145028.1 126 tCc/tTc 0 -PAOX UCSF GRCh37 10 135197700 135197700 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 58 117 0 ENST00000278060.5:c.1105G>A p.Val369Ile p.V369I ENST00000278060 NM_152911.2 369 Gtc/Atc 0 -PAPD7 UCSF GRCh37 5 6738823 6738823 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 84 193 0 ENST00000230859.6:c.118G>A p.Gly40Ser p.G40S ENST00000230859 NM_001171805.1 40 Ggt/Agt 0 -PAPLN UCSF GRCh37 14 73726113 73726113 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 33 54 0 ENST00000340738.5:c.1764C>T p.Pro588= p.P588= ENST00000340738 NM_173462.3 588 ccC/ccT 0 -PAQR6 UCSF GRCh37 1 156215982 156215982 + 5_prime_UTR_variant 5'UTR SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 28 71 0 ENST00000335852.1:c.-343C>T *115* ENST00000335852 NM_024897.3 0 -PAQR9 UCSF GRCh37 3 142681301 142681301 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 57 89 0 ENST00000340634.3:c.878G>A p.Ser293Asn p.S293N ENST00000340634 NM_198504.2 293 aGc/aAc 0 -PARD3 UCSF GRCh37 10 34408598 34408598 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 18 35 0 ENST00000374789.3:c.3620G>A p.Arg1207Gln p.R1207Q ENST00000374789 NM_019619.3 1207 cGg/cAg 0 -PARD3B UCSF GRCh37 2 206480410 206480410 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 70 168 0 ENST00000358768.2:c.3305C>T p.Pro1102Leu p.P1102L ENST00000358768 1102 cCc/cTc 0 -PARP10 UCSF GRCh37 8 145060340 145060340 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 172 45 61 0 ENST00000313028.7:c.64G>A p.Val22Met p.V22M ENST00000313028 NM_032789.3 22 Gtg/Atg 0 -PARP10 UCSF GRCh37 8 145059662 145059662 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 118 28 52 0 ENST00000313028.7:c.591C>T p.Arg197= p.R197= ENST00000313028 NM_032789.3 197 cgC/cgT 0 -PARP8 UCSF GRCh37 5 50090071 50090071 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 83 57 162 0 ENST00000281631.5:c.768G>A p.Trp256Ter p.W256* ENST00000281631 NM_024615.3 256 tgG/tgA 0 -PARP9 UCSF GRCh37 3 122274837 122274837 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 85 123 0 ENST00000360356.2:c.286G>A p.Val96Ile p.V96I ENST00000360356 NM_001146102.1 96 Gtc/Atc 0 -PARS2 UCSF GRCh37 1 55223689 55223689 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 82 142 0 ENST00000371279.3:c.1146G>A p.Lys382= p.K382= ENST00000371279 NM_152268.3 382 aaG/aaA 0 -PAX8 UCSF GRCh37 2 114002187 114002187 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 67 152 0 ENST00000429538.3:c.206G>A p.Gly69Asp p.G69D ENST00000429538 NM_003466.3 69 gGc/gAc 0 -PAX8 UCSF GRCh37 2 113984731 113984731 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 11 17 0 ENST00000429538.3:c.1189+1G>A p.X397_splice ENST00000429538 NM_003466.3 0 -PAXIP1 UCSF GRCh37 7 154767540 154767540 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 84 155 0 ENST00000404141.1:c.940G>A p.Ala314Thr p.A314T ENST00000404141 314 Gct/Act 0 -PBK UCSF GRCh37 8 27690588 27690588 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 31 85 0 ENST00000301905.4:c.43G>A p.Glu15Lys p.E15K ENST00000301905 NM_001278945.1 15 Gaa/Aaa 0 -PCDH18 UCSF GRCh37 4 138452772 138452772 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 90 126 0 ENST00000344876.4:c.471C>T p.Pro157= p.P157= ENST00000344876 NM_019035.3 157 ccC/ccT 0 -PCDHA3 UCSF GRCh37 5 140182340 140182340 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 75 113 0 ENST00000522353.2:c.1558C>T p.Leu520= p.L520= ENST00000522353 NM_018906.2 520 Ctg/Ttg 0 -PCDHA3 UCSF GRCh37 5 140181988 140181988 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 118 83 191 0 ENST00000522353.2:c.1206G>A p.Lys402= p.K402= ENST00000522353 NM_018906.2 402 aaG/aaA 0 -PCDHA5 UCSF GRCh37 5 140201429 140201429 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 62 132 0 ENST00000529859.1:c.69G>A p.Trp23Ter p.W23* ENST00000529859 NM_018908.2 23 tgG/tgA 0 -PCDHA6 UCSF GRCh37 5 140208723 140208723 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 82 83 204 0 ENST00000529310.1:c.1047G>A p.Glu349= p.E349= ENST00000529310 NM_018909.2 349 gaG/gaA 0 -PCDHA7 UCSF GRCh37 5 140214435 140214435 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 99 35 174 0 ENST00000525929.1:c.467G>A p.Gly156Asp p.G156D ENST00000525929 NM_018910.2 156 gGc/gAc 0 -PCDHA9 UCSF GRCh37 5 140228547 140228547 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 33 88 0 ENST00000532602.1:c.467G>A p.Gly156Asp p.G156D ENST00000532602 NM_031857.1 156 gGc/gAc 0 -PCDHB5 UCSF GRCh37 5 140517039 140517039 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 56 126 0 ENST00000231134.5:c.2023G>A p.Ala675Thr p.A675T ENST00000231134 NM_015669.2 675 Gcg/Acg 0 -PCDHB9 UCSF GRCh37 5 140567134 140567134 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 56 152 0 ENST00000316105.4:n.242C>T *81* ENST00000316105 0 -PCDHB9 UCSF GRCh37 5 140567721 140567721 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 42 84 0 ENST00000316105.4:n.829G>A *277* ENST00000316105 0 -PCDHGB1 UCSF GRCh37 5 140732149 140732149 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 40 83 0 ENST00000523390.1:c.2322G>A p.Gln774= p.Q774= ENST00000523390 NM_018922.2 774 caG/caA 0 -PCDHGB4 UCSF GRCh37 5 140768177 140768177 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 135 111 214 0 ENST00000519479.1:c.726C>T p.Phe242= p.F242= ENST00000519479 NM_003736.2 242 ttC/ttT 0 -PCDHGB7 UCSF GRCh37 5 140797671 140797671 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 98 77 157 1 ENST00000398594.2:c.245G>A p.Gly82Glu p.G82E ENST00000398594 NM_018927.3 82 gGg/gAg 0 -PCDHGC3 UCSF GRCh37 5 140856768 140856768 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 55 92 0 ENST00000308177.3:c.1085C>T p.Pro362Leu p.P362L ENST00000308177 NM_002588.2 362 cCc/cTc 0 -PCDP1 UCSF GRCh37 2 120413987 120413987 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 31 94 0 ENST00000413369.3:c.2464C>T p.Leu822Phe p.L822F ENST00000413369 NM_001271049.1 822 Ctc/Ttc 0 -PCK1 UCSF GRCh37 20 56140507 56140507 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 73 158 0 ENST00000319441.4:c.1516G>A p.Ala506Thr p.A506T ENST00000319441 NM_002591.3 506 Gcc/Acc 0 -PCNT UCSF GRCh37 21 47783713 47783713 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 55 128 0 ENST00000359568.5:c.2473G>A p.Glu825Lys p.E825K ENST00000359568 NM_006031.5 825 Gaa/Aaa 0 -PCNX UCSF GRCh37 14 71485788 71485788 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 114 90 200 0 ENST00000304743.2:c.3059G>A p.Gly1020Glu p.G1020E ENST00000304743 NM_014982.2 1020 gGa/gAa 0 -PCYT1B UCSF GRCh37 X 24625961 24625961 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 21 61 0 ENST00000379144.2:c.235G>A p.Val79Ile p.V79I ENST00000379144 NM_004845.4 79 Gta/Ata 0 -PDC UCSF GRCh37 1 186413413 186413413 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 128 119 246 0 ENST00000391997.2:c.439G>A p.Gly147Ser p.G147S ENST00000391997 NM_002597.4 147 Ggt/Agt 0 -PDCD6 UCSF GRCh37 5 306740 306740 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 76 126 0 ENST00000264933.4:c.232G>A p.Ala78Thr p.A78T ENST00000264933 NM_001267556.1 78 Gcc/Acc 0 -PDE2A UCSF GRCh37 11 72294554 72294554 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 36 97 0 ENST00000334456.5:c.1656C>T p.Leu552= p.L552= ENST00000334456 NM_002599.4 552 ctC/ctT 0 -PDE4A UCSF GRCh37 19 10531444 10531444 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 10 8 0 ENST00000352831.6:c.4G>A p.Glu2Lys p.E2K ENST00000352831 NM_001111307.1 2 Gaa/Aaa 0 -PDE4DIP UCSF GRCh37 1 144859782 144859782 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 111 24 156 1 ENST00000369356.4:c.6302G>A p.Gly2101Glu p.G2101E ENST00000369356 NM_014644.5 2101 gGa/gAa 0 -PDE4DIP UCSF GRCh37 1 145075649 145075649 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 64 10 48 0 ENST00000369345.4:c.214G>A p.Ala72Thr p.A72T ENST00000369345 72 Gcg/Acg 0 -PDE4DIP UCSF GRCh37 1 144864250 144864250 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 235 90 343 0 ENST00000369356.4:c.5845G>A p.Glu1949Lys p.E1949K ENST00000369356 NM_014644.5 1949 Gag/Aag 0 -PDE4DIP UCSF GRCh37 1 144917570 144917570 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 318 111 387 0 ENST00000369356.4:c.1534G>A p.Ala512Thr p.A512T ENST00000369356 NM_014644.5 512 Gct/Act 0 -PDE4DIP UCSF GRCh37 1 144857006 144857006 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 33 148 0 ENST00000369356.4:c.6479C>T p.Pro2160Leu p.P2160L ENST00000369356 NM_014644.5 2160 cCt/cTt 0 -PDE6B UCSF GRCh37 4 619530 619530 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 42 87 0 ENST00000496514.1:c.115G>A p.Gly39Arg p.G39R ENST00000496514 39 Ggg/Agg 0 -PDE6B UCSF GRCh37 4 657987 657987 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 30 51 0 ENST00000496514.1:c.2106G>A p.Glu702= p.E702= ENST00000496514 702 gaG/gaA 0 -PDE9A UCSF GRCh37 21 44171225 44171225 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 113 230 0 ENST00000291539.6:c.654-1G>A p.X218_splice ENST00000291539 NM_002606.2 0 -PDGFRB UCSF GRCh37 5 149516589 149516589 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 19 20 52 0 ENST00000261799.4:c.22C>T p.Pro8Ser p.P8S ENST00000261799 NM_002609.3 8 Cca/Tca 0 -PDIA2 UCSF GRCh37 16 334467 334467 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 8 29 0 ENST00000219406.6:c.280G>A p.Val94Met p.V94M ENST00000219406 NM_006849.2 94 Gtg/Atg 0 -PDIA5 UCSF GRCh37 3 122880194 122880194 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 46 105 0 ENST00000316218.7:c.1371C>T p.Val457= p.V457= ENST00000316218 NM_006810.3 457 gtC/gtT 0 -PDK2 UCSF GRCh37 17 48187335 48187335 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 10 5 16 0 ENST00000503176.1:c.1098C>T p.Asp366= p.D366= ENST00000503176 NM_002611.4 366 gaC/gaT 0 -PDLIM5 UCSF GRCh37 4 95376501 95376501 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 23 73 0 ENST00000514743.1:c.62G>A p.Gly21Asp p.G21D ENST00000514743 NM_001256426.1 21 gGt/gAt 0 -PDPR UCSF GRCh37 16 70162947 70162947 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 326 114 411 0 ENST00000288050.4:c.529G>A p.Ala177Thr p.A177T ENST00000288050 NM_017990.3 177 Gcc/Acc 0 -PDPR UCSF GRCh37 16 70176293 70176293 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 157 57 220 1 ENST00000288050.4:c.1471+1G>A p.X491_splice ENST00000288050 NM_017990.3 0 -PDS5B UCSF GRCh37 13 33222964 33222964 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 55 150 0 ENST00000315596.10:c.55G>A p.Val19Ile p.V19I ENST00000315596 NM_015032.3 19 Gtc/Atc 0 -PDZD2 UCSF GRCh37 5 32090465 32090465 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 115 67 162 0 ENST00000438447.1:c.6911C>T p.Thr2304Met p.T2304M ENST00000438447 2304 aCg/aTg 0 -PEAK1 UCSF GRCh37 15 77407640 77407640 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 57 131 0 ENST00000560626.2:c.4099G>A p.Glu1367Lys p.E1367K ENST00000560626 1367 Gaa/Aaa 0 -PEAK1 UCSF GRCh37 15 77425714 77425714 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 100 174 0 ENST00000560626.2:c.3710G>A p.Ser1237Asn p.S1237N ENST00000560626 1237 aGc/aAc 0 -PECR UCSF GRCh37 2 216946456 216946456 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 29 59 0 ENST00000265322.7:c.9C>T p.Ser3= p.S3= ENST00000265322 NM_018441.5 3 tcC/tcT 0 -PEG3 UCSF GRCh37 19 57327209 57327209 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 81 168 0 ENST00000326441.9:c.2601C>T p.Asp867= p.D867= ENST00000326441 NM_006210.2 867 gaC/gaT 0 -PER2 UCSF GRCh37 2 239165610 239165610 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 43 133 0 ENST00000254657.3:c.2018G>A p.Ser673Asn p.S673N ENST00000254657 NM_022817.2 673 aGc/aAc 0 -PER2 UCSF GRCh37 2 239170986 239170986 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 47 103 0 ENST00000254657.3:c.1154-1G>A p.X385_splice ENST00000254657 NM_022817.2 0 -PEX13 UCSF GRCh37 2 61259071 61259071 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 100 75 163 0 ENST00000295030.5:c.610G>A p.Gly204Ser p.G204S ENST00000295030 NM_002618.3 204 Ggc/Agc 0 -PEX5L UCSF GRCh37 3 179597902 179597902 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 45 98 0 ENST00000467460.1:c.320C>T p.Thr107Ile p.T107I ENST00000467460 NM_001256751.1 107 aCt/aTt 0 -PEX6 UCSF GRCh37 6 42933057 42933057 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 42 90 0 ENST00000304611.8:c.2521G>A p.Asp841Asn p.D841N ENST00000304611 NM_000287.3 841 Gat/Aat 0 -PFKP UCSF GRCh37 10 3147617 3147617 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 46 110 0 ENST00000381125.4:c.698G>A p.Gly233Asp p.G233D ENST00000381125 NM_002627.4 233 gGt/gAt 0 -PFN2 UCSF GRCh37 3 149686298 149686298 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 91 181 0 ENST00000239940.7:c.172G>A p.Gly58Ser p.G58S ENST00000239940 58 Ggt/Agt 0 -PGBD1 UCSF GRCh37 6 28253422 28253422 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 37 48 120 0 ENST00000405948.2:c.491G>A p.Gly164Glu p.G164E ENST00000405948 NM_001184743.1 164 gGg/gAg 0 -PGBD2 UCSF GRCh37 1 249212463 249212463 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 87 79 153 0 ENST00000329291.5:c.1680G>A p.Arg560= p.R560= ENST00000329291 NM_170725.2 560 agG/agA 0 -PGCP UCSF GRCh37 8 97892204 97892204 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 312 76 203 0 ENST00000220763.5:c.820G>A p.Glu274Lys p.E274K ENST00000220763 NM_016134.3 274 Gag/Aag 0 -PGS1 UCSF GRCh37 17 76399989 76399989 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 73 102 0 ENST00000262764.6:c.1221G>A p.Gln407= p.Q407= ENST00000262764 NM_024419.3 407 caG/caA 0 -PHACTR2 UCSF GRCh37 6 144070135 144070135 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 30 74 0 ENST00000440869.2:c.228G>A p.Lys76= p.K76= ENST00000440869 NM_001100164.1 76 aaG/aaA 0 -PHB1 UCSF GRCh37 17 47482379 47482379 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 8 18 0 ENST00000300408.3:c.794C>T p.Ser265Phe p.S265F ENST00000300408 NM_002634.3 265 tCc/tTc 0 -PHF12 UCSF GRCh37 17 27233388 27233388 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 44 76 0 ENST00000332830.4:c.2828G>A p.Gly943Asp p.G943D ENST00000332830 NM_001033561.1 943 gGc/gAc 0 -PHF23 UCSF GRCh37 17 7139077 7139077 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 110 166 0 ENST00000320316.3:c.1080G>A p.Gly360= p.G360= ENST00000320316 NM_024297.2 360 ggG/ggA 0 -PHKA1 UCSF GRCh37 X 71843054 71843054 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 58 150 0 ENST00000373542.4:c.1865G>A p.Gly622Glu p.G622E ENST00000373542 NM_002637.3 622 gGa/gAa 0 -PHKG1 UCSF GRCh37 7 56151003 56151003 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 39 72 0 ENST00000452681.2:c.611C>T p.Ser204Phe p.S204F ENST00000452681 NM_001258459.1 204 tCc/tTc 0 -PHLDB1 UCSF GRCh37 11 118502183 118502183 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 10 29 0 ENST00000361417.2:c.2087G>A p.Ser696Asn p.S696N ENST00000361417 NM_015157.3 696 aGc/aAc 0 -PHLPP1 UCSF GRCh37 18 60527681 60527681 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 183 42 215 0 ENST00000262719.5:c.1913G>A p.Arg638His p.R638H ENST00000262719 638 cGc/cAc 0 -PHTF1 UCSF GRCh37 1 114242401 114242401 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 10 24 0 ENST00000369604.1:c.2067G>A p.Met689Ile p.M689I ENST00000369604 689 atG/atA 0 -PI4KA UCSF GRCh37 22 21096956 21096956 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 55 106 0 ENST00000255882.6:c.3553C>T p.His1185Tyr p.H1185Y ENST00000255882 NM_058004.3 1185 Cat/Tat 0 -PI4KB UCSF GRCh37 1 151278774 151278774 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 49 129 0 ENST00000368875.2:c.1284C>T p.Ala428= p.A428= ENST00000368875 NM_002651.2 428 gcC/gcT 0 -PIAS4 UCSF GRCh37 19 4028595 4028595 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 20 33 0 ENST00000262971.2:c.669C>T p.Val223= p.V223= ENST00000262971 NM_015897.2 223 gtC/gtT 0 -PIEZO1 UCSF GRCh37 16 88792793 88792793 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 9 17 0 ENST00000301015.9:c.3867C>T p.Ser1289= p.S1289= ENST00000301015 NM_001142864.2 1289 agC/agT 0 -PIEZO2 UCSF GRCh37 18 10672871 10672871 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 50 112 0 ENST00000503781.3:c.7823-1G>A p.X2608_splice ENST00000503781 NM_022068.2 0 -PIGS UCSF GRCh37 17 26898094 26898094 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 43 81 0 ENST00000308360.7:c.147C>T p.Ser49= p.S49= ENST00000308360 NM_033198.3 49 tcC/tcT 0 -PIGT UCSF GRCh37 20 44048995 44048995 + missense_variant Missense_Mutation SNP T T A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 32 44 0 ENST00000279036.6:c.793T>A p.Ser265Thr p.S265T ENST00000279036 NM_015937.5 265 Tcc/Acc 0 -PIK3C3 UCSF GRCh37 18 39613797 39613797 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 57 156 0 ENST00000262039.4:c.1715G>A p.Arg572Lys p.R572K ENST00000262039 NM_002647.2 572 aGa/aAa 0 -PIK3C3 UCSF GRCh37 18 39584421 39584421 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 32 91 0 ENST00000262039.4:c.1086C>T p.Asp362= p.D362= ENST00000262039 NM_002647.2 362 gaC/gaT 0 -PJA2 UCSF GRCh37 5 108714805 108714805 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 80 157 0 ENST00000361189.2:c.383G>A p.Gly128Asp p.G128D ENST00000361189 NM_014819.4 128 gGc/gAc 0 -PKD1 UCSF GRCh37 16 2152522 2152522 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 48 73 0 ENST00000262304.4:c.9061G>A p.Glu3021Lys p.E3021K ENST00000262304 NM_001009944.2 3021 Gag/Aag 0 -PKD1L1 UCSF GRCh37 7 47897327 47897327 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 62 62 106 0 ENST00000289672.2:c.4466T>C p.Val1489Ala p.V1489A ENST00000289672 NM_138295.3 1489 gTg/gCg 0 -PKD1L2 UCSF GRCh37 16 81145904 81145904 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 95 135 1 ENST00000525539.1:c.6847C>T p.Pro2283Ser p.P2283S ENST00000525539 NM_052892.3 2283 Cca/Tca 0 -PKD1L3 UCSF GRCh37 16 71988149 71988149 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 81 178 0 ENST00000534738.1:n.2664G>A *888* ENST00000534738 0 -PKHD1 UCSF GRCh37 6 51735337 51735337 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 50 120 0 ENST00000371117.3:c.7451C>T p.Ala2484Val p.A2484V ENST00000371117 NM_138694.3 2484 gCc/gTc 0 -PKHD1 UCSF GRCh37 6 51920389 51920389 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 34 102 0 ENST00000371117.3:c.1832C>T p.Thr611Ile p.T611I ENST00000371117 NM_138694.3 611 aCa/aTa 0 -PKHD1 UCSF GRCh37 6 51720715 51720715 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 82 225 0 ENST00000371117.3:c.7887C>T p.Asn2629= p.N2629= ENST00000371117 NM_138694.3 2629 aaC/aaT 0 -PKHD1L1 UCSF GRCh37 8 110396319 110396319 + synonymous_variant Silent SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 389 55 213 0 ENST00000378402.5:c.438A>G p.Pro146= p.P146= ENST00000378402 NM_177531.4 146 ccA/ccG 0 -PKN3 UCSF GRCh37 9 131469082 131469082 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 13 27 0 ENST00000291906.4:c.502G>A p.Ala168Thr p.A168T ENST00000291906 NM_013355.3 168 Gcc/Acc 0 -PLAC4 UCSF GRCh37 21 42551485 42551485 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 14 22 0 ENST00000330333.6:c.312+10983G>A *104* ENST00000330333 NM_012105.4 0 -PLCB1 UCSF GRCh37 20 8609010 8609010 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 55 147 0 ENST00000338037.6:c.316G>A p.Val106Met p.V106M ENST00000338037 NM_015192.3 106 Gtg/Atg 0 -PLCB1 UCSF GRCh37 20 8696941 8696941 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 34 95 0 ENST00000338037.6:c.1281C>T p.Tyr427= p.Y427= ENST00000338037 NM_015192.3 427 taC/taT 0 -PLCB2 UCSF GRCh37 15 40594532 40594532 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 36 52 0 ENST00000260402.3:c.391C>T p.Leu131= p.L131= ENST00000260402 NM_004573.2 131 Ctg/Ttg 0 -PLCD4 UCSF GRCh37 2 219487450 219487450 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 132 102 223 0 ENST00000450993.2:c.621G>A p.Glu207= p.E207= ENST00000450993 NM_032726.3 207 gaG/gaA 0 -PLCE1 UCSF GRCh37 10 96005837 96005837 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 60 109 0 ENST00000371380.3:c.2555C>T p.Ser852Phe p.S852F ENST00000371380 852 tCc/tTc 0 -PLCL1 UCSF GRCh37 2 198949169 198949169 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 113 199 0 ENST00000428675.1:c.928C>T p.Leu310Phe p.L310F ENST00000428675 NM_006226.3 310 Ctt/Ttt 0 -PLD3 UCSF GRCh37 19 40883792 40883792 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 33 65 0 ENST00000409587.1:c.1285G>A p.Gly429Arg p.G429R ENST00000409587 429 Gga/Aga 0 -PLEC UCSF GRCh37 8 144991766 144991766 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 257 60 81 0 ENST00000322810.4:c.12634G>A p.Glu4212Lys p.E4212K ENST00000322810 NM_201380.2 4212 Gag/Aag 0 -PLEC UCSF GRCh37 8 144993812 144993812 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 28 40 0 ENST00000322810.4:c.10588G>A p.Ala3530Thr p.A3530T ENST00000322810 NM_201380.2 3530 Gcg/Acg 0 -PLEC UCSF GRCh37 8 144997025 144997025 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 16 18 0 ENST00000322810.4:c.7483G>A p.Ala2495Thr p.A2495T ENST00000322810 NM_201380.2 2495 Gcg/Acg 0 -PLEC UCSF GRCh37 8 145001197 145001197 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 119 24 29 0 ENST00000322810.4:c.4304C>T p.Ser1435Phe p.S1435F ENST00000322810 NM_201380.2 1435 tCc/tTc 0 -PLEC UCSF GRCh37 8 145006824 145006824 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 101 25 52 0 ENST00000322810.4:c.2205C>T p.Asp735= p.D735= ENST00000322810 NM_201380.2 735 gaC/gaT 0 -PLEC UCSF GRCh37 8 145010027 145010027 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 21 46 0 ENST00000322810.4:c.1002C>T p.Ile334= p.I334= ENST00000322810 NM_201380.2 334 atC/atT 0 -PLEKHA5 UCSF GRCh37 12 19511364 19511364 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 20 70 0 ENST00000429027.2:c.3341C>T p.Thr1114Ile p.T1114I ENST00000429027 NM_001256470.1 1114 aCt/aTt 0 -PLEKHA6 UCSF GRCh37 1 204226627 204226627 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 9 15 0 ENST00000272203.3:c.1378C>T p.Pro460Ser p.P460S ENST00000272203 NM_014935.4 460 Ccc/Tcc 0 -PLEKHA6 UCSF GRCh37 1 204237376 204237376 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 30 24 60 0 ENST00000272203.3:c.167C>T p.Pro56Leu p.P56L ENST00000272203 NM_014935.4 56 cCc/cTc 0 -PLEKHG5 UCSF GRCh37 1 6531862 6531862 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 7 30 0 ENST00000537245.1:c.1324C>T p.Leu442= p.L442= ENST00000537245 NM_001265592.1 442 Ctg/Ttg 0 -PLEKHH1 UCSF GRCh37 14 68042659 68042659 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 58 141 0 ENST00000329153.5:c.2289C>T p.Thr763= p.T763= ENST00000329153 NM_020715.2 763 acC/acT 0 -PLEKHH1 UCSF GRCh37 14 68045917 68045917 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 44 60 0 ENST00000329153.5:c.2916G>A p.Glu972= p.E972= ENST00000329153 NM_020715.2 972 gaG/gaA 0 -PLEKHM2 UCSF GRCh37 1 16056318 16056318 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 86 150 0 ENST00000375799.3:c.2102C>T p.Ala701Val p.A701V ENST00000375799 NM_015164.2 701 gCc/gTc 0 -PLEKHO1 UCSF GRCh37 1 150131340 150131340 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 33 74 0 ENST00000369124.4:c.852C>T p.Ala284= p.A284= ENST00000369124 NM_016274.4 284 gcC/gcT 0 -PLIN3 UCSF GRCh37 19 4859655 4859655 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 41 65 1 ENST00000221957.4:c.295G>A p.Gly99Arg p.G99R ENST00000221957 NM_001164194.1 99 Ggg/Agg 0 -PLOD2 UCSF GRCh37 3 145828149 145828149 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 66 165 0 ENST00000282903.5:c.425G>A p.Gly142Glu p.G142E ENST00000282903 NM_182943.2 142 gGa/gAa 0 -PLVAP UCSF GRCh37 19 17476650 17476650 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 44 117 0 ENST00000252590.4:c.624C>T p.His208= p.H208= ENST00000252590 NM_031310.1 208 caC/caT 0 -PLXDC2 UCSF GRCh37 10 20506382 20506382 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 45 133 0 ENST00000377252.4:c.1150G>A p.Glu384Lys p.E384K ENST00000377252 NM_032812.7 384 Gaa/Aaa 0 -PLXNA1 UCSF GRCh37 3 126710278 126710278 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 11 40 0 ENST00000393409.2:c.1246G>A p.Gly416Arg p.G416R ENST00000393409 NM_032242.3 416 Ggg/Agg 0 -PLXNA3 UCSF GRCh37 X 153694768 153694768 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 44 99 0 ENST00000369682.3:c.2849G>A p.Gly950Asp p.G950D ENST00000369682 NM_017514.3 950 gGc/gAc 0 -PLXNB1 UCSF GRCh37 3 48459638 48459638 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 29 54 0 ENST00000358536.4:c.3184G>A p.Ala1062Thr p.A1062T ENST00000358536 NM_002673.4 1062 Gct/Act 0 -PLXNB3 UCSF GRCh37 X 153039127 153039127 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 21 22 28 0 ENST00000538966.1:c.3307G>A p.Asp1103Asn p.D1103N ENST00000538966 NM_001163257.1 1103 Gac/Aac 0 -PLXNB3 UCSF GRCh37 X 153041097 153041097 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 26 54 0 ENST00000538966.1:c.4452C>T p.Cys1484= p.C1484= ENST00000538966 NM_001163257.1 1484 tgC/tgT 0 -PLXMT-ND1 UCSF GRCh37 3 129279233 129279233 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 26 23 35 0 ENST00000324093.4:c.5073G>A p.Arg1691= p.R1691= ENST00000324093 NM_015103.2 1691 cgG/cgA 0 -PMF1 UCSF GRCh37 1 156203447 156203447 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 69 199 0 ENST00000368276.4:c.296G>A p.Gly99Glu p.G99E ENST00000368276 NM_001199661.1 99 gGg/gAg 0 -PMFBP1 UCSF GRCh37 16 72166782 72166782 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 84 155 0 ENST00000237353.10:c.1312G>A p.Ala438Thr p.A438T ENST00000237353 NM_031293.2 438 Gcc/Acc 0 -PML UCSF GRCh37 15 74315461 74315461 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 15 15 0 ENST00000268058.3:c.895G>A p.Glu299Lys p.E299K ENST00000268058 NM_033238.2 299 Gag/Aag 0 -PMM1 UCSF GRCh37 22 41973381 41973381 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 1 52 68 0 ENST00000216259.7:c.730C>T p.Gln244Ter p.Q244* ENST00000216259 NM_002676.2 244 Cag/Tag 0 -PMS1 UCSF GRCh37 2 190682849 190682849 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 39 95 0 ENST00000441310.2:c.525C>T p.Leu175= p.L175= ENST00000441310 NM_000534.4 175 ctC/ctT 0 -PNMA2 UCSF GRCh37 8 26366197 26366197 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 91 195 0 ENST00000522362.2:c.75G>A p.Gly25= p.G25= ENST00000522362 NM_007257.5 25 ggG/ggA 0 -PNO1 UCSF GRCh37 2 68385528 68385528 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 90 204 0 ENST00000263657.2:c.224C>T p.Thr75Ile p.T75I ENST00000263657 NM_020143.2 75 aCa/aTa 0 -PNP UCSF GRCh37 14 20943096 20943096 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 59 148 0 ENST00000361505.5:c.450C>T p.Pro150= p.P150= ENST00000361505 NM_000270.3 150 ccC/ccT 0 -PODXL2 UCSF GRCh37 3 127379246 127379246 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 61 161 0 ENST00000342480.6:c.375G>A p.Glu125= p.E125= ENST00000342480 NM_015720.3 125 gaG/gaA 0 -POLA1 UCSF GRCh37 X 24761422 24761422 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 77 170 0 ENST00000379059.3:c.2524G>A p.Gly842Ser p.G842S ENST00000379059 NM_016937.3 842 Ggc/Agc 0 -POLB UCSF GRCh37 8 42213081 42213081 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 60 93 0 ENST00000265421.4:c.418C>T p.Leu140= p.L140= ENST00000265421 NM_002690.2 140 Ctg/Ttg 0 -POLE UCSF GRCh37 12 133244177 133244177 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 124 91 193 0 ENST00000320574.5:c.2231C>T p.Thr744Ile p.T744I ENST00000320574 NM_006231.2 744 aCc/aTc 0 -POLN UCSF GRCh37 4 2083381 2083381 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 33 60 0 ENST00000511885.2:c.2287G>A p.Ala763Thr p.A763T ENST00000511885 763 Gca/Aca 0 -POLN UCSF GRCh37 4 2073858 2073858 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 30 112 0 ENST00000511885.2:c.2686C>T p.Pro896Ser p.P896S ENST00000511885 896 Cct/Tct 0 -POLN UCSF GRCh37 4 2209757 2209757 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 96 168 0 ENST00000511885.2:c.671C>T p.Thr224Ile p.T224I ENST00000511885 224 aCt/aTt 0 -POLQ UCSF GRCh37 3 121151764 121151764 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 79 217 0 ENST00000264233.5:c.7659+1G>A p.X2553_splice ENST00000264233 NM_199420.3 0 -POLR1D UCSF GRCh37 13 28239967 28239967 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 31 150 0 ENST00000399697.3:c.246C>T p.Asn82= p.N82= ENST00000399697 NM_152705.2 82 aaC/aaT 0 -POLR3A UCSF GRCh37 10 79767606 79767606 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 92 182 0 ENST00000372371.3:c.1928G>A p.Ser643Asn p.S643N ENST00000372371 NM_007055.3 643 aGt/aAt 0 -POLR3A UCSF GRCh37 10 79770278 79770278 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 74 104 0 ENST00000372371.3:c.1593C>T p.Thr531= p.T531= ENST00000372371 NM_007055.3 531 acC/acT 0 -POLRMT UCSF GRCh37 19 621684 621684 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 23 29 0 ENST00000588649.2:c.2014C>T p.Arg672Cys p.R672C ENST00000588649 NM_005035.3 672 Cgc/Tgc 0 -POLRMT UCSF GRCh37 19 622877 622877 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 9 31 0 ENST00000588649.2:c.1399C>T p.Leu467Phe p.L467F ENST00000588649 NM_005035.3 467 Ctt/Ttt 0 -POMT1 UCSF GRCh37 9 134385701 134385701 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 49 76 0 ENST00000372228.3:c.820G>A p.Val274Ile p.V274I ENST00000372228 NM_007171.3 274 Gtc/Atc 0 -POMT2 UCSF GRCh37 14 77786960 77786960 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 10 21 0 ENST00000261534.4:c.65G>A p.Gly22Asp p.G22D ENST00000261534 NM_013382.5 22 gGc/gAc 0 -PON3 UCSF GRCh37 7 95025659 95025659 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 41 90 0 ENST00000265627.5:c.4G>A p.Gly2Arg p.G2R ENST00000265627 NM_000940.2 2 Ggg/Agg 0 -POPDC2 UCSF GRCh37 3 119367215 119367215 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 53 75 0 ENST00000264231.3:c.901C>T p.Pro301Ser p.P301S ENST00000264231 NM_022135.2 301 Ccc/Tcc 0 -POT1 UCSF GRCh37 7 124510964 124510964 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 62 140 0 ENST00000357628.3:c.255+1G>A p.X85_splice ENST00000357628 NM_015450.2 0 -POU2F1 UCSF GRCh37 1 167381512 167381512 + synonymous_variant Silent SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 16 22 22 0 ENST00000367866.2:c.1872C>T p.Ser624= p.S624= ENST00000367866 NM_002697.3 624 agC/agT 0 -POU5F1B UCSF GRCh37 8 128428899 128428899 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 241 76 146 0 ENST00000465342.2:c.788C>T p.Ala263Val p.A263V ENST00000465342 263 gCc/gTc 0 -PPAPDC1B UCSF GRCh37 8 38125910 38125910 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 47 95 0 ENST00000424479.2:c.253G>A p.Asp85Asn p.D85N ENST00000424479 NM_001102559.1 85 Gac/Aac 0 -PPAPDC3 UCSF GRCh37 9 134165620 134165620 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 96 43 82 0 ENST00000372264.3:c.236G>A p.Gly79Asp p.G79D ENST00000372264 NM_032728.3 79 gGc/gAc 0 -PPFIA2 UCSF GRCh37 12 81768505 81768505 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 127 120 228 0 ENST00000549396.1:c.1174G>A p.Ala392Thr p.A392T ENST00000549396 NM_003625.3 392 Gct/Act 0 -PPFIA2 UCSF GRCh37 12 81657155 81657155 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 63 177 0 ENST00000549396.1:c.3570C>T p.Asn1190= p.N1190= ENST00000549396 NM_003625.3 1190 aaC/aaT 0 -PPFIBP2 UCSF GRCh37 11 7674408 7674408 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 1 43 94 0 ENST00000299492.4:c.2590C>T p.Pro864Ser p.P864S ENST00000299492 NM_003621.3 864 Cct/Tct 0 -PPIG UCSF GRCh37 2 170487383 170487383 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 64 147 0 ENST00000260970.3:c.647C>T p.Ser216Phe p.S216F ENST00000260970 NM_004792.2 216 tCc/tTc 0 -PPIP5K2 UCSF GRCh37 5 102491695 102491695 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 33 64 0 ENST00000321521.9:c.1486G>A p.Glu496Lys p.E496K ENST00000321521 496 Gag/Aag 0 -PPM1B UCSF GRCh37 2 44428804 44428804 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 89 168 0 ENST00000282412.4:c.466C>T p.Leu156= p.L156= ENST00000282412 NM_002706.4 156 Ctg/Ttg 0 -PPM1D UCSF GRCh37 17 58740364 58740364 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 59 139 0 ENST00000305921.3:c.1269G>A p.Glu423= p.E423= ENST00000305921 NM_003620.3 423 gaG/gaA 0 -PPM1F UCSF GRCh37 22 22277491 22277491 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 58 96 0 ENST00000263212.5:c.1339G>A p.Glu447Lys p.E447K ENST00000263212 NM_014634.3 447 Gag/Aag 0 -PPM1F UCSF GRCh37 22 22277695 22277695 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 28 62 0 ENST00000263212.5:c.1135C>T p.Leu379= p.L379= ENST00000263212 NM_014634.3 379 Ctg/Ttg 0 -PPP1R12A UCSF GRCh37 12 80222115 80222115 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 92 191 0 ENST00000450142.2:c.777G>A p.Glu259= p.E259= ENST00000450142 NM_002480.2 259 gaG/gaA 0 -PPP1R9A UCSF GRCh37 7 94913617 94913617 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 87 159 0 ENST00000433360.1:c.3584C>T p.Ser1195Phe p.S1195F ENST00000433360 NM_001166160.1 1195 tCt/tTt 0 -PPP2R1A UCSF GRCh37 19 52719110 52719110 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 55 137 0 ENST00000322088.6:c.886G>A p.Ala296Thr p.A296T ENST00000322088 NM_014225.5 296 Gcc/Acc 0 -PPP2R2D UCSF GRCh37 10 133747977 133747977 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 112 201 0 ENST00000455566.1:c.23C>T p.Thr8Ile p.T8I ENST00000455566 NM_018461.3 8 aCc/aTc 0 -PPP2R5B UCSF GRCh37 11 64698907 64698907 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 30 68 0 ENST00000164133.2:c.892-1G>A p.X298_splice ENST00000164133 NM_006244.3 0 -PPP4R1 UCSF GRCh37 18 9550361 9550361 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 68 178 0 ENST00000400556.3:c.2327G>A p.Arg776Lys p.R776K ENST00000400556 NM_001042388.2 776 aGa/aAa 0 -PPP5C UCSF GRCh37 19 46891687 46891687 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 19 54 0 ENST00000012443.4:c.1158G>A p.Trp386Ter p.W386* ENST00000012443 NM_006247.3 386 tgG/tgA 0 -PPP6C UCSF GRCh37 9 127923179 127923179 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 47 95 0 ENST00000373547.4:c.178G>A p.Asp60Asn p.D60N ENST00000373547 NM_002721.4 60 Gac/Aac 0 -PPPDE1 UCSF GRCh37 1 244852625 244852625 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 54 141 0 ENST00000302550.11:c.190G>A p.Gly64Arg p.G64R ENST00000302550 NM_016076.3 64 Gga/Aga 0 -PPRC1 UCSF GRCh37 10 103901077 103901078 + frameshift_variant Frame_Shift_Ins INS - - C NOVEL P10_Rec Untested WXS Illumina HiSeq 29 0 ENST00000278070.2:c.2819dup p.Pro941ThrfsTer75 p.P941Tfs*75 ENST00000278070 NM_015062.3 938 ccc/cCcc 0 -PPT1 UCSF GRCh37 1 40557012 40557012 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 28 69 0 ENST00000433473.3:c.422G>A p.Gly141Glu p.G141E ENST00000433473 NM_000310.3 141 gGa/gAa 0 -PPT1 UCSF GRCh37 1 40557775 40557775 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 68 139 0 ENST00000433473.3:c.304G>A p.Asp102Asn p.D102N ENST00000433473 NM_000310.3 102 Gat/Aat 0 -PQLC3 UCSF GRCh37 2 11312087 11312087 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 80 162 0 ENST00000295083.3:c.391G>A p.Ala131Thr p.A131T ENST00000295083 NM_152391.3 131 Gca/Aca 0 -PRAM1 UCSF GRCh37 19 8564207 8564207 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 34 65 0 ENST00000423345.4:c.485C>T p.Ala162Val p.A162V ENST00000423345 162 gCg/gTg 0 -PRB2 UCSF GRCh37 12 11546792 11546792 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 66 201 0 ENST00000389362.4:c.220C>T p.Pro74Ser p.P74S ENST00000389362 NM_006248.3 74 Cct/Tct 0 -PRB3 UCSF GRCh37 12 11421042 11421042 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 60 146 0 ENST00000381842.3:c.141C>T p.Pro47= p.P47= ENST00000381842 NM_006249.4 47 ccC/ccT 0 -PRDM10 UCSF GRCh37 11 129787087 129787087 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 41 113 0 ENST00000358825.5:c.2272G>A p.Val758Met p.V758M ENST00000358825 NM_020228.2 758 Gtg/Atg 0 -PRDM13 UCSF GRCh37 6 100061157 100061157 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 14 25 0 ENST00000369215.4:c.646C>T p.Pro216Ser p.P216S ENST00000369215 NM_021620.3 216 Cca/Tca 0 -PRDM15 UCSF GRCh37 21 43259799 43259799 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 85 195 0 ENST00000269844.3:c.1902G>A p.Arg634= p.R634= ENST00000269844 NM_022115.3 634 agG/agA 0 -PRDM2 UCSF GRCh37 1 14108749 14108749 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P10_Rec Untested WXS Illumina HiSeq 7 0 ENST00000235372.7:c.4467delA p.Val1490PhefsTer74 p.V1490Ffs*74 ENST00000235372 NM_012231.4 1487 Aaa/aa 0 -PRDX4 UCSF GRCh37 X 23697334 23697334 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 76 179 0 ENST00000379341.4:c.529C>T p.Leu177Phe p.L177F ENST00000379341 NM_006406.1 177 Ctt/Ttt 0 -PREP UCSF GRCh37 6 105736761 105736761 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 50 129 0 ENST00000369110.3:c.1326C>T p.Tyr442= p.Y442= ENST00000369110 NM_002726.4 442 taC/taT 0 -PREX1 UCSF GRCh37 20 47364366 47364366 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 21 53 0 ENST00000371941.3:c.271C>T p.Leu91Phe p.L91F ENST00000371941 NM_020820.3 91 Ctc/Ttc 0 -PREX1 UCSF GRCh37 20 47273622 47273622 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 14 30 0 ENST00000371941.3:c.2079C>T p.Cys693= p.C693= ENST00000371941 NM_020820.3 693 tgC/tgT 0 -PREX2 UCSF GRCh37 8 69104660 69104660 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 35 61 0 ENST00000288368.4:c.4504G>A p.Ala1502Thr p.A1502T ENST00000288368 NM_024870.2 1502 Gct/Act 0 -PRICKLE4 UCSF GRCh37 6 41752787 41752787 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 52 127 0 ENST00000458694.1:c.355C>T p.Leu119Phe p.L119F ENST00000458694 NM_013397.5 119 Ctt/Ttt 0 -PRKAR2A UCSF GRCh37 3 48789107 48789107 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 60 85 0 ENST00000265563.8:c.1126G>A p.Asp376Asn p.D376N ENST00000265563 NM_004157.2 376 Gac/Aac 0 -PRKCZ UCSF GRCh37 1 2105397 2105397 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 47 77 0 ENST00000378567.3:c.1347C>T p.Ser449= p.S449= ENST00000378567 NM_002744.4 449 tcC/tcT 0 -PRKD3 UCSF GRCh37 2 37480324 37480324 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 113 79 197 0 ENST00000379066.1:c.2669C>T p.Pro890Leu p.P890L ENST00000379066 890 cCt/cTt 0 -PRLHR UCSF GRCh37 10 120354365 120354365 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 28 32 0 ENST00000239032.2:c.392G>A p.Gly131Asp p.G131D ENST00000239032 NM_004248.2 131 gGc/gAc 0 -PRMT10 UCSF GRCh37 4 148575327 148575327 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 99 179 0 ENST00000322396.6:c.1721C>T p.Thr574Ile p.T574I ENST00000322396 NM_138364.2 574 aCt/aTt 0 -PRNP UCSF GRCh37 20 4680067 4680067 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 35 61 0 ENST00000379440.4:c.201G>A p.Gln67= p.Q67= ENST00000379440 NM_001080121.1 67 caG/caA 0 -PRODH2 UCSF GRCh37 19 36297377 36297377 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 46 109 0 ENST00000301175.3:c.1184G>A p.Gly395Glu p.G395E ENST00000301175 NM_021232.1 395 gGg/gAg 0 -PROL1 UCSF GRCh37 4 71275286 71275286 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 123 125 229 0 ENST00000399575.2:c.241G>A p.Ala81Thr p.A81T ENST00000399575 NM_021225.4 81 Gca/Aca 0 -PROX1 UCSF GRCh37 1 214170076 214170076 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 58 129 0 ENST00000366958.4:c.198G>A p.Lys66= p.K66= ENST00000366958 NM_001270616.1 66 aaG/aaA 0 -PRPF3 UCSF GRCh37 1 150316697 150316697 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 61 129 0 ENST00000324862.6:c.1486G>A p.Val496Ile p.V496I ENST00000324862 NM_004698.2 496 Gta/Ata 0 -PRPF40B UCSF GRCh37 12 50028958 50028958 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 36 89 0 ENST00000548825.2:c.1078G>A p.Glu360Lys p.E360K ENST00000548825 NM_001031698.2 360 Gag/Aag 0 -PRPF8 UCSF GRCh37 17 1554985 1554985 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 85 169 0 ENST00000572621.1:c.6467C>T p.Thr2156Ile p.T2156I ENST00000572621 2156 aCc/aTc 0 -PRR15 UCSF GRCh37 7 29606223 29606223 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 21 8 22 0 ENST00000319694.2:c.278G>A p.Arg93His p.R93H ENST00000319694 NM_175887.2 93 cGc/cAc 0 -PRR19 UCSF GRCh37 19 42814728 42814728 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 85 151 0 ENST00000499536.2:c.907G>A p.Val303Ile p.V303I ENST00000499536 303 Gtt/Att 0 -PRRC2A UCSF GRCh37 6 31600268 31600268 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 65 103 0 ENST00000376033.2:c.3818G>A p.Gly1273Asp p.G1273D ENST00000376033 NM_004638.3 1273 gGc/gAc 0 -PRRG3 UCSF GRCh37 X 150869246 150869246 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 53 95 0 ENST00000370353.3:c.437C>T p.Ser146Phe p.S146F ENST00000370353 146 tCt/tTt 0 -PRRT2 UCSF GRCh37 16 29825136 29825136 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 46 82 0 ENST00000567659.1:c.761C>T p.Pro254Leu p.P254L ENST00000567659 254 cCt/cTt 0 -PRRT2 UCSF GRCh37 16 29824583 29824583 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 44 97 0 ENST00000567659.1:c.208G>A p.Glu70Lys p.E70K ENST00000567659 70 Gaa/Aaa 0 -PRSS36 UCSF GRCh37 16 31150554 31150554 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 47 65 0 ENST00000268281.4:c.2473G>A p.Gly825Ser p.G825S ENST00000268281 NM_173502.4 825 Ggc/Agc 0 -PRSS36 UCSF GRCh37 16 31159864 31159864 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 16 16 26 0 ENST00000268281.4:c.405G>A p.Glu135= p.E135= ENST00000268281 NM_173502.4 135 gaG/gaA 0 -PRUNE2 UCSF GRCh37 9 79324065 79324065 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 241 137 213 0 ENST00000376718.3:c.3125C>T p.Ser1042Phe p.S1042F ENST00000376718 NM_015225.2 1042 tCt/tTt 0 -PSAT1 UCSF GRCh37 9 80919695 80919695 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 164 56 170 0 ENST00000376588.3:c.236G>A p.Gly79Glu p.G79E ENST00000376588 NM_058179.3 79 gGg/gAg 0 -PSMA3 UCSF GRCh37 14 58718883 58718883 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 63 163 0 ENST00000216455.4:c.151G>A p.Glu51Lys p.E51K ENST00000216455 NM_152132.2 51 Gaa/Aaa 0 -PSMB11 UCSF GRCh37 14 23511517 23511517 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 53 104 1 ENST00000408907.2:c.83C>T p.Ala28Val p.A28V ENST00000408907 NM_001099780.1 28 gCt/gTt 0 -PSMB5 UCSF GRCh37 14 23503905 23503905 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 24 52 0 ENST00000361611.6:c.186C>T p.Thr62= p.T62= ENST00000361611 NM_002797.3 62 acC/acT 0 -PSMB7 UCSF GRCh37 9 127167651 127167651 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 256 109 182 0 ENST00000259457.3:c.456C>T p.His152= p.H152= ENST00000259457 NM_002799.3 152 caC/caT 0 -PSMF1 UCSF GRCh37 20 1145035 1145035 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 99 185 1 ENST00000335877.6:c.679G>A p.Gly227Ser p.G227S ENST00000335877 NM_006814.3 227 Ggc/Agc 0 -PSTPIP1 UCSF GRCh37 15 77321869 77321869 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 9 29 0 ENST00000558012.1:c.517-1G>A p.X173_splice ENST00000558012 NM_003978.3 0 -PTBP2 UCSF GRCh37 1 97250756 97250756 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 68 127 0 ENST00000426398.2:c.850C>T p.Pro284Ser p.P284S ENST00000426398 NM_021190.2 284 Cct/Tct 0 -PTCHD3 UCSF GRCh37 10 27702675 27702675 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 155 63 148 0 ENST00000438700.3:c.505G>A p.Glu169Lys p.E169K ENST00000438700 NM_001034842.3 169 Gag/Aag 0 -PTGER4 UCSF GRCh37 5 40681248 40681248 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 73 113 0 ENST00000302472.3:c.153G>A p.Glu51= p.E51= ENST00000302472 NM_000958.2 51 gaG/gaA 0 -PTGFRN UCSF GRCh37 1 117504007 117504007 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 60 110 0 ENST00000393203.2:c.1356C>T p.Asn452= p.N452= ENST00000393203 NM_020440.2 452 aaC/aaT 0 -PTGR2 UCSF GRCh37 14 74343866 74343866 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 88 159 0 ENST00000555661.1:c.514G>A p.Gly172Arg p.G172R ENST00000555661 172 Ggg/Agg 0 -PTGS1 UCSF GRCh37 9 125148858 125148858 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 195 79 200 0 ENST00000362012.2:c.1143C>T p.Asn381= p.N381= ENST00000362012 NM_000962.3 381 aaC/aaT 0 -PTGS1 UCSF GRCh37 9 125145892 125145892 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 37 71 0 ENST00000362012.2:c.867G>A p.Glu289= p.E289= ENST00000362012 NM_000962.3 289 gaG/gaA 0 -PTGS1 UCSF GRCh37 9 125145946 125145946 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 43 85 0 ENST00000362012.2:c.921G>A p.Glu307= p.E307= ENST00000362012 NM_000962.3 307 gaG/gaA 0 -PTH2R UCSF GRCh37 2 209302275 209302275 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 32 35 90 0 ENST00000272847.2:c.192C>T p.Phe64= p.F64= ENST00000272847 NM_005048.3 64 ttC/ttT 0 -PTK2 UCSF GRCh37 8 141829029 141829043 + inframe_deletion In_Frame_Del DEL GGATCTCAAAGAATT GGATCTCAAAGAATT - NOVEL P10_Rec Untested WXS Illumina HiSeq 199 0 ENST00000340930.3:c.725_739del p.Lys242_Leu247delinsMet p.K242_L247delinsM ENST00000340930 NM_001199649.1 242 aAATTCTTTGAGATCCtg/atg 0 -PTK2B UCSF GRCh37 8 27315931 27315931 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 23 25 34 0 ENST00000397501.1:c.2935G>A p.Ala979Thr p.A979T ENST00000397501 NM_173174.2 979 Gct/Act 0 -PTK2B UCSF GRCh37 8 27296632 27296632 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0045 P10_Rec Untested WXS Illumina HiSeq 51 42 92 1 ENST00000397501.1:c.1728C>T p.Asp576= p.D576= ENST00000397501 NM_173174.2 576 gaC/gaT 0 -PTK6 UCSF GRCh37 20 62161534 62161534 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 44 71 0 ENST00000217185.2:c.1065C>T p.Ala355= p.A355= ENST00000217185 NM_005975.3 355 gcC/gcT 0 -PTPN13 UCSF GRCh37 4 87593580 87593580 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 47 134 0 ENST00000436978.1:c.178C>T p.Pro60Ser p.P60S ENST00000436978 NM_080685.2 60 Cca/Tca 0 -PTPN4 UCSF GRCh37 2 120702686 120702686 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 46 113 0 ENST00000263708.2:c.1385C>T p.Pro462Leu p.P462L ENST00000263708 NM_002830.3 462 cCt/cTt 0 -PTPN5 UCSF GRCh37 11 18755141 18755141 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 7 104 0 ENST00000358540.2:c.1042G>A p.Asp348Asn p.D348N ENST00000358540 NM_006906.1 348 Gac/Aac 0 -PTPN5 UCSF GRCh37 11 18764003 18764003 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 41 49 0 ENST00000358540.2:c.531C>T p.Pro177= p.P177= ENST00000358540 NM_006906.1 177 ccC/ccT 0 -PTPRA UCSF GRCh37 20 3008476 3008476 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 48 111 0 ENST00000380393.3:c.1909G>A p.Glu637Lys p.E637K ENST00000380393 NM_002836.3 637 Gag/Aag 0 -PTPRB UCSF GRCh37 12 70974815 70974815 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 61 167 0 ENST00000334414.6:c.2578+1G>A p.X860_splice ENST00000334414 NM_001109754.2 0 -PTPRC UCSF GRCh37 1 198725253 198725253 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 64 173 0 ENST00000442510.2:c.3864G>A p.Glu1288= p.E1288= ENST00000442510 1288 gaG/gaA 0 -PTPRCAP UCSF GRCh37 11 67203356 67203356 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 23 44 0 ENST00000326294.3:c.469G>A p.Gly157Ser p.G157S ENST00000326294 NM_005608.2 157 Ggc/Agc 0 -PTPRH UCSF GRCh37 19 55718105 55718105 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 68 186 0 ENST00000376350.3:c.304G>A p.Glu102Lys p.E102K ENST00000376350 NM_002842.3 102 Gag/Aag 0 -PTPRH UCSF GRCh37 19 55698945 55698945 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 64 135 0 ENST00000376350.3:c.2502G>A p.Gln834= p.Q834= ENST00000376350 NM_002842.3 834 caG/caA 0 -PTPRH UCSF GRCh37 19 55697841 55697841 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 47 142 0 ENST00000376350.3:c.2634C>T p.Ser878= p.S878= ENST00000376350 NM_002842.3 878 agC/agT 0 -PTPRK UCSF GRCh37 6 128399998 128399998 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 52 137 0 ENST00000368213.5:c.1843G>A p.Val615Ile p.V615I ENST00000368213 NM_001135648.1 615 Gta/Ata 0 -PTPRK UCSF GRCh37 6 128306890 128306890 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 55 135 0 ENST00000368213.5:c.3245C>T p.Ala1082Val p.A1082V ENST00000368213 NM_001135648.1 1082 gCt/gTt 0 -PTPRM UCSF GRCh37 18 7888373 7888373 + stop_gained,splice_region_variant Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 66 146 0 ENST00000580170.1:c.466C>T p.Gln156Ter p.Q156* ENST00000580170 NM_001105244.1 156 Cag/Tag 0 -PTPRM UCSF GRCh37 18 8394570 8394570 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 47 100 0 ENST00000580170.1:c.4305G>A p.Lys1435= p.K1435= ENST00000580170 NM_001105244.1 1435 aaG/aaA 0 -PTPRU UCSF GRCh37 1 29605526 29605526 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 11 24 0 ENST00000345512.3:c.1456C>T p.Pro486Ser p.P486S ENST00000345512 NM_005704.4 486 Ccc/Tcc 0 -PTPRU UCSF GRCh37 1 29609209 29609209 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 21 40 0 ENST00000345512.3:c.1890G>A p.Glu630= p.E630= ENST00000345512 NM_005704.4 630 gaG/gaA 0 -PTPRZ1 UCSF GRCh37 7 121680878 121680878 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 39 78 0 ENST00000393386.2:c.5646G>A p.Gln1882= p.Q1882= ENST00000393386 NM_001206838.1 1882 caG/caA 0 -PUF60 UCSF GRCh37 8 144900217 144900217 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 167 32 95 0 ENST00000526683.1:c.632C>T p.Ala211Val p.A211V ENST00000526683 NM_001271098.1 211 gCc/gTc 0 -PURA UCSF GRCh37 5 139494246 139494246 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 23 42 0 ENST00000331327.3:c.480G>A p.Lys160= p.K160= ENST00000331327 NM_005859.4 160 aaG/aaA 0 -PUS7L UCSF GRCh37 12 44149022 44149022 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 61 114 0 ENST00000416848.2:c.27C>T p.Ile9= p.I9= ENST00000416848 NM_001098615.1 9 atC/atT 0 -PVRL1 UCSF GRCh37 11 119549413 119549413 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 20 32 0 ENST00000264025.3:c.142G>A p.Val48Ile p.V48I ENST00000264025 NM_002855.4 48 Gtt/Att 0 -PVRL2 UCSF GRCh37 19 45389422 45389422 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 44 83 0 ENST00000252483.5:c.1293G>A p.Glu431= p.E431= ENST00000252483 NM_001042724.1 431 gaG/gaA 0 -PWP2 UCSF GRCh37 21 45534566 45534566 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 79 47 95 0 ENST00000291576.7:c.387G>A p.Arg129= p.R129= ENST00000291576 NM_005049.2 129 cgG/cgA 0 -PWWP2A UCSF GRCh37 5 159520808 159520808 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 124 111 237 0 ENST00000307063.7:c.849C>T p.Asn283= p.N283= ENST00000307063 NM_001130864.1 283 aaC/aaT 0 -QRFPR UCSF GRCh37 4 122254126 122254126 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 45 144 0 ENST00000394427.2:c.647C>T p.Thr216Ile p.T216I ENST00000394427 NM_198179.2 216 aCc/aTc 0 -R3HCC1 UCSF GRCh37 8 23146530 23146530 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 52 145 0 ENST00000265806.6:c.-450G>A p.X150_splice ENST00000265806 NM_001136108.1 0 -R3HDM1 UCSF GRCh37 2 136403068 136403068 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 78 187 0 ENST00000264160.4:c.1594C>T p.Gln532Ter p.Q532* ENST00000264160 NM_015361.2 532 Caa/Taa 0 -R3HDM2 UCSF GRCh37 12 57696963 57696963 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 52 116 0 ENST00000347140.3:c.203C>T p.Ala68Val p.A68V ENST00000347140 68 gCc/gTc 0 -RAB2B UCSF GRCh37 14 21936563 21936563 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 29 80 0 ENST00000397762.1:c.315G>A p.Arg105= p.R105= ENST00000397762 NM_032846.3 105 cgG/cgA 0 -RAB40B UCSF GRCh37 17 80616416 80616416 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 61 123 0 ENST00000571995.1:c.516G>A p.Arg172= p.R172= ENST00000571995 NM_006822.2 172 agG/agA 0 -RABGGTB UCSF GRCh37 1 76253239 76253239 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 51 151 0 ENST00000319942.3:c.61G>A p.Glu21Lys p.E21K ENST00000319942 NM_004582.3 21 Gag/Aag 0 -RABL2B UCSF GRCh37 22 51208342 51208342 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 1 32 104 0 ENST00000395593.3:c.400A>G p.Lys134Glu p.K134E ENST00000395593 NM_001130923.1 134 Aaa/Gaa 0 -RAC3 UCSF GRCh37 17 79991357 79991357 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 18 41 0 ENST00000306897.4:c.330C>T p.Ile110= p.I110= ENST00000306897 NM_005052.2 110 atC/atT 0 -RACGAP1 UCSF GRCh37 12 50393516 50393516 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 50 128 0 ENST00000434422.1:c.631G>A p.Gly211Arg p.G211R ENST00000434422 211 Ggg/Agg 0 -RAD1 UCSF GRCh37 5 34911848 34911848 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 97 189 0 ENST00000382038.2:c.377G>A p.Gly126Glu p.G126E ENST00000382038 NM_002853.3 126 gGa/gAa 0 -RAD18 UCSF GRCh37 3 9000665 9000665 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 67 139 0 ENST00000264926.2:c.72G>A p.Arg24= p.R24= ENST00000264926 NM_020165.3 24 cgG/cgA 0 -RAD21 UCSF GRCh37 8 117868523 117868532 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region DEL ACCCACTGTA ACCCACTGTA CCCCCCTGT NOVEL P10_Rec Untested WXS Illumina HiSeq 6 0 ENST00000297338.2:c.815-5_819delinsACAGGGGGG p.X272_splice ENST00000297338 NM_006265.2 0 -RAD51 UCSF GRCh37 15 41023350 41023350 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 65 143 0 ENST00000267868.3:c.994G>A p.Asp332Asn p.D332N ENST00000267868 NM_002875.4 332 Gat/Aat 0 -RAD51C UCSF GRCh37 17 56772316 56772316 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 99 210 0 ENST00000337432.4:c.170C>T p.Ala57Val p.A57V ENST00000337432 NM_058216.2 57 gCc/gTc 0 -RAD52 UCSF GRCh37 12 1040430 1040430 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 53 119 0 ENST00000358495.3:c.142G>A p.Gly48Ser p.G48S ENST00000358495 NM_134424.2 48 Ggc/Agc 0 -RAD54B UCSF GRCh37 8 95412584 95412584 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 126 43 110 0 ENST00000336148.5:c.1052G>A p.Gly351Asp p.G351D ENST00000336148 NM_012415.3 351 gGc/gAc 0 -RAD54B UCSF GRCh37 8 95479653 95479653 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 296 92 177 0 ENST00000336148.5:c.115C>T p.Pro39Ser p.P39S ENST00000336148 NM_012415.3 39 Cca/Tca 0 -RALGAPA2 UCSF GRCh37 20 20585937 20585937 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 140 125 227 0 ENST00000202677.7:c.1920G>A p.Trp640Ter p.W640* ENST00000202677 NM_020343.3 640 tgG/tgA 0 -RALGAPA2 UCSF GRCh37 20 20505167 20505167 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 67 152 0 ENST00000202677.7:c.3783C>T p.Leu1261= p.L1261= ENST00000202677 NM_020343.3 1261 ctC/ctT 0 -RALGPS1 UCSF GRCh37 9 129961336 129961336 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 142 77 135 0 ENST00000259351.5:c.1238G>A p.Gly413Glu p.G413E ENST00000259351 NM_014636.2 413 gGg/gAg 0 -RANBP17 UCSF GRCh37 5 170343577 170343577 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 81 166 0 ENST00000523189.1:c.943G>A p.Glu315Lys p.E315K ENST00000523189 NM_022897.3 315 Gaa/Aaa 0 -RANBP17 UCSF GRCh37 5 170669776 170669776 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 131 101 214 0 ENST00000523189.1:c.2728G>A p.Val910Ile p.V910I ENST00000523189 NM_022897.3 910 Gta/Ata 0 -RANBP2 UCSF GRCh37 2 109384589 109384589 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 201 167 293 0 ENST00000283195.6:c.7594C>T p.Pro2532Ser p.P2532S ENST00000283195 NM_006267.4 2532 Cca/Tca 0 -RANBP6 UCSF GRCh37 9 6014933 6014933 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 98 202 0 ENST00000259569.5:c.675G>A p.Leu225= p.L225= ENST00000259569 NM_012416.3 225 ttG/ttA 0 -RANBP9 UCSF GRCh37 6 13711180 13711180 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 3 16 0 ENST00000011619.3:c.558G>A p.Arg186= p.R186= ENST00000011619 NM_005493.2 186 cgG/cgA 0 -RAP1A UCSF GRCh37 1 112240111 112240111 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 61 144 0 ENST00000369709.3:c.175G>A p.Ala59Thr p.A59T ENST00000369709 NM_002884.2 59 Gca/Aca 0 -RAP1GAP UCSF GRCh37 1 21938289 21938289 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 55 138 0 ENST00000290101.4:c.825C>T p.Phe275= p.F275= ENST00000290101 NM_001145658.1 275 ttC/ttT 0 -RAPGEF6 UCSF GRCh37 5 130808360 130808360 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 41 121 0 ENST00000296859.6:c.2159C>T p.Pro720Leu p.P720L ENST00000296859 720 cCc/cTc 0 -RAPGEF6 UCSF GRCh37 5 130831301 130831301 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 44 115 0 ENST00000296859.6:c.1472G>A p.Gly491Asp p.G491D ENST00000296859 491 gGt/gAt 0 -RAPH1 UCSF GRCh37 2 204309628 204309628 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 61 171 2 ENST00000319170.5:c.1739C>T p.Ala580Val p.A580V ENST00000319170 NM_213589.1 580 gCc/gTc 0 -RASA3 UCSF GRCh37 13 114786977 114786977 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 22 67 0 ENST00000334062.7:c.688C>T p.Leu230Phe p.L230F ENST00000334062 NM_007368.2 230 Ctc/Ttc 0 -RASA3 UCSF GRCh37 13 114751087 114751087 + stop_gained,splice_region_variant Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 50 130 0 ENST00000334062.7:c.2428C>T p.Gln810Ter p.Q810* ENST00000334062 NM_007368.2 810 Cag/Tag 0 -RASGEF1C UCSF GRCh37 5 179554648 179554648 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 15 38 0 ENST00000393371.2:c.675C>T p.Val225= p.V225= ENST00000393371 225 gtC/gtT 0 -RASGRF2 UCSF GRCh37 5 80369113 80369113 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 66 200 0 ENST00000265080.4:c.729G>A p.Lys243= p.K243= ENST00000265080 NM_006909.2 243 aaG/aaA 0 -RASGRP4 UCSF GRCh37 19 38905542 38905542 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 21 33 0 ENST00000587738.1:c.1176C>T p.Leu392= p.L392= ENST00000587738 392 ctC/ctT 0 -RASSF2 UCSF GRCh37 20 4766911 4766911 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 89 201 0 ENST00000379400.3:c.877G>A p.Glu293Lys p.E293K ENST00000379400 NM_014737.2 293 Gaa/Aaa 0 -RBCK1 UCSF GRCh37 20 409726 409726 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 16 37 0 ENST00000356286.5:c.1440C>T p.Arg480= p.R480= ENST00000356286 NM_031229.2 480 cgC/cgT 0 -RBFA UCSF GRCh37 18 77794524 77794524 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 14 9 0 ENST00000306735.5:c.29G>A p.Arg10His p.R10H ENST00000306735 NM_024805.2 10 cGc/cAc 0 -RBKS UCSF GRCh37 2 28050538 28050538 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 46 89 0 ENST00000302188.3:c.691G>A p.Val231Met p.V231M ENST00000302188 NM_022128.1 231 Gtg/Atg 0 -RBL1 UCSF GRCh37 20 35632224 35632224 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 63 127 0 ENST00000373664.3:c.2917C>T p.Pro973Ser p.P973S ENST00000373664 NM_002895.3 973 Cca/Tca 0 -RBL1 UCSF GRCh37 20 35717525 35717525 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 105 74 154 0 ENST00000373664.3:c.157G>A p.Gly53Arg p.G53R ENST00000373664 NM_002895.3 53 Gga/Aga 0 -RBM10 UCSF GRCh37 X 47041020 47041020 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 22 48 0 ENST00000329236.7:c.1316G>A p.Ser439Asn p.S439N ENST00000329236 NM_001204466.1 439 aGc/aAc 0 -RBM12B UCSF GRCh37 8 94746508 94746508 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 225 87 157 0 ENST00000399300.2:c.2131C>T p.Pro711Ser p.P711S ENST00000399300 NM_203390.2 711 Cct/Tct 0 -RBM14 UCSF GRCh37 11 66391790 66391790 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 70 116 0 ENST00000310137.4:c.443C>T p.Thr148Ile p.T148I ENST00000310137 NM_006328.3 148 aCc/aTc 0 -RBM20 UCSF GRCh37 10 112581121 112581121 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 53 127 0 ENST00000369519.3:c.2744G>A p.Gly915Glu p.G915E ENST00000369519 NM_001134363.1 915 gGg/gAg 0 -RBM25 UCSF GRCh37 14 73544137 73544137 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 54 110 0 ENST00000261973.7:c.217G>A p.Gly73Ser p.G73S ENST00000261973 NM_021239.2 73 Ggc/Agc 0 -RBM33 UCSF GRCh37 7 155530819 155530819 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 111 127 194 0 ENST00000401878.3:c.1459C>T p.Pro487Ser p.P487S ENST00000401878 NM_053043.2 487 Ccg/Tcg 0 -RBM45 UCSF GRCh37 2 178988377 178988377 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 62 143 0 ENST00000286070.5:c.982G>A p.Asp328Asn p.D328N ENST00000286070 NM_152945.2 328 Gat/Aat 0 -RBMXL3 UCSF GRCh37 X 114425911 114425911 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 33 33 88 0 ENST00000424776.3:c.1907G>A p.Arg636His p.R636H ENST00000424776 NM_001145346.1 636 cGc/cAc 0 -RC3H2 UCSF GRCh37 9 125616365 125616365 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 236 98 179 0 ENST00000373670.1:c.2983G>A p.Ala995Thr p.A995T ENST00000373670 995 Gcc/Acc 0 -RCAN3 UCSF GRCh37 1 24859647 24859647 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 32 103 0 ENST00000374395.4:c.444C>T p.Ser148= p.S148= ENST00000374395 NM_001251984.1 148 tcC/tcT 0 -RECQL4 UCSF GRCh37 8 145740731 145740731 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 166 36 67 0 ENST00000428558.2:c.1369G>A p.Gly457Arg p.G457R ENST00000428558 NM_004260.3 457 Ggg/Agg 0 -RECQL4 UCSF GRCh37 8 145741398 145741398 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 250 44 96 0 ENST00000428558.2:c.1105C>T p.Leu369Phe p.L369F ENST00000428558 NM_004260.3 369 Ctc/Ttc 0 -RECQL5 UCSF GRCh37 17 73625500 73625500 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 35 69 0 ENST00000317905.5:c.2003C>T p.Thr668Met p.T668M ENST00000317905 NM_004259.6 668 aCg/aTg 0 -REEP6 UCSF GRCh37 19 1496425 1496425 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 23 55 0 ENST00000233596.3:c.490G>A p.Asp164Asn p.D164N ENST00000233596 NM_138393.1 164 Gac/Aac 0 -RELN UCSF GRCh37 7 103363610 103363610 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 32 103 0 ENST00000428762.1:c.782C>T p.Ala261Val p.A261V ENST00000428762 NM_005045.3 261 gCt/gTt 0 -RENBP UCSF GRCh37 X 153209422 153209422 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 21 27 0 ENST00000393700.3:c.214G>A p.Val72Ile p.V72I ENST00000393700 NM_002910.5 72 Gta/Ata 0 -REST UCSF GRCh37 4 57798062 57798062 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 67 135 0 ENST00000309042.7:c.3038G>A p.Ser1013Asn p.S1013N ENST00000309042 NM_005612.4 1013 aGc/aAc 0 -RET UCSF GRCh37 10 43597907 43597907 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 41 106 0 ENST00000355710.3:c.455C>T p.Thr152Ile p.T152I ENST00000355710 NM_020975.4 152 aCc/aTc 0 -REXO4 UCSF GRCh37 9 136282832 136282832 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 194 106 180 0 ENST00000371942.3:c.133G>A p.Val45Ile p.V45I ENST00000371942 NM_001279350.1 45 Gta/Ata 0 -RFC5 UCSF GRCh37 12 118464746 118464746 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 84 171 0 ENST00000454402.2:c.716C>T p.Thr239Ile p.T239I ENST00000454402 NM_007370.5 239 aCc/aTc 0 -RFNG UCSF GRCh37 17 80007572 80007572 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 11 14 0 ENST00000310496.4:c.809C>T p.Pro270Leu p.P270L ENST00000310496 NM_002917.1 270 cCc/cTc 0 -RFTN1 UCSF GRCh37 3 16411748 16411748 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 8 102 258 0 ENST00000334133.4:c.865C>T p.His289Tyr p.H289Y ENST00000334133 NM_015150.1 289 Cat/Tat 0 -RFWD2 UCSF GRCh37 1 176012861 176012861 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 67 185 0 ENST00000367669.3:c.1515G>A p.Arg505= p.R505= ENST00000367669 NM_022457.5 505 agG/agA 0 -RFX7 UCSF GRCh37 15 56471467 56471467 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 18 8 45 0 ENST00000423270.1:c.195+1G>A p.X65_splice ENST00000423270 NM_022841.5 0 -RFX7 UCSF GRCh37 15 56435014 56435014 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 120 180 0 ENST00000423270.1:c.363G>A p.Glu121= p.E121= ENST00000423270 NM_022841.5 121 gaG/gaA 0 -RGL3 UCSF GRCh37 19 11516053 11516053 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 22 28 0 ENST00000393423.3:c.1046C>T p.Ala349Val p.A349V ENST00000393423 349 gCc/gTc 0 -RGS4 UCSF GRCh37 1 163044336 163044336 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 86 163 1 ENST00000421743.2:c.895C>T p.Pro299Ser p.P299S ENST00000421743 NM_001102445.2 299 Cct/Tct 0 -RGS8 UCSF GRCh37 1 182617280 182617280 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 136 113 203 0 ENST00000258302.4:c.406C>T p.Pro136Ser p.P136S ENST00000258302 NM_033345.2 136 Cca/Tca 0 -RHPN1 UCSF GRCh37 8 144458815 144458815 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 11 20 0 ENST00000289013.6:c.297G>A p.Arg99= p.R99= ENST00000289013 NM_052924.2 99 cgG/cgA 0 -RHPN1 UCSF GRCh37 8 144460928 144460928 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 30 29 0 ENST00000289013.6:c.522G>A p.Gln174= p.Q174= ENST00000289013 NM_052924.2 174 caG/caA 0 -RIMBP3 UCSF GRCh37 22 20457152 20457152 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 150 70 207 0 ENST00000426804.1:c.4150G>A p.Glu1384Lys p.E1384K ENST00000426804 NM_015672.1 1384 Gag/Aag 0 -RING1 UCSF GRCh37 6 33177691 33177691 + splice_acceptor_variant Splice_Site SNP G G T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 35 101 0 ENST00000374656.4:c.240-1G>T p.X80_splice ENST00000374656 NM_002931.3 0 -RIOK3 UCSF GRCh37 18 21059389 21059389 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 32 98 0 ENST00000339486.3:c.1452+1G>A p.X484_splice ENST00000339486 NM_003831.3 0 -RIPK3 UCSF GRCh37 14 24805454 24805454 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 56 141 0 ENST00000216274.5:c.1484G>A p.Gly495Asp p.G495D ENST00000216274 NM_006871.3 495 gGt/gAt 0 -RIPK4 UCSF GRCh37 21 43169343 43169343 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 41 128 0 ENST00000332512.3:c.644G>A p.Gly215Asp p.G215D ENST00000332512 NM_020639.2 215 gGc/gAc 0 -RIPPLY1 UCSF GRCh37 X 106146371 106146371 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 49 102 0 ENST00000276173.4:c.147G>A p.Gly49= p.G49= ENST00000276173 NM_138382.2 49 ggG/ggA 0 -RIPPLY1 UCSF GRCh37 X 106146449 106146449 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 39 103 0 ENST00000276173.4:c.69C>T p.Asp23= p.D23= ENST00000276173 NM_138382.2 23 gaC/gaT 0 -RIT1 UCSF GRCh37 1 155874248 155874248 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 57 113 0 ENST00000368323.3:c.283G>A p.Gly95Arg p.G95R ENST00000368323 NM_006912.5 95 Ggg/Agg 0 -RLF UCSF GRCh37 1 40704129 40704129 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 74 166 0 ENST00000372771.4:c.3755G>A p.Ser1252Asn p.S1252N ENST00000372771 NM_012421.3 1252 aGt/aAt 0 -RMI1 UCSF GRCh37 9 86617645 86617645 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 179 90 170 0 ENST00000325875.3:c.1744C>T p.Gln582Ter p.Q582* ENST00000325875 NM_024945.2 582 Caa/Taa 0 -RNASE1 UCSF GRCh37 14 21269809 21269809 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 72 132 0 ENST00000397967.4:c.419G>A p.Gly140Glu p.G140E ENST00000397967 NM_002933.4 140 gGg/gAg 0 -RNASEL UCSF GRCh37 1 182551378 182551378 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 69 165 0 ENST00000367559.3:c.1582G>A p.Val528Ile p.V528I ENST00000367559 NM_021133.3 528 Gtc/Atc 0 -RNF11 UCSF GRCh37 1 51702498 51702498 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 20 53 0 ENST00000242719.3:c.70G>A p.Ala24Thr p.A24T ENST00000242719 NM_014372.4 24 Gct/Act 0 -RNF19A UCSF GRCh37 8 101281054 101281054 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 185 60 142 0 ENST00000519449.1:c.1150C>T p.Pro384Ser p.P384S ENST00000519449 NM_015435.4 384 Cct/Tct 0 -RNF208 UCSF GRCh37 9 140115417 140115417 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 4 17 0 ENST00000392827.1:c.248C>T p.Pro83Leu p.P83L ENST00000392827 83 cCt/cTt 0 -RNF213 UCSF GRCh37 17 78318527 78318527 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 95 197 0 ENST00000582970.1:c.6392C>T p.Thr2131Ile p.T2131I ENST00000582970 NM_001256071.1 2131 aCc/aTc 0 -RNF217 UCSF GRCh37 6 125398004 125398004 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 72 162 0 ENST00000359704.2:c.607G>A p.Ala203Thr p.A203T ENST00000359704 NM_152553.2 203 Gct/Act 0 -RNF31 UCSF GRCh37 14 24618685 24618685 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 54 130 0 ENST00000324103.6:c.702G>A p.Gln234= p.Q234= ENST00000324103 NM_017999.4 234 caG/caA 0 -RNF38 UCSF GRCh37 9 36390546 36390546 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 295 97 186 0 ENST00000259605.6:c.80G>A p.Arg27Lys p.R27K ENST00000259605 NM_022781.4 27 aGa/aAa 0 -RNF40 UCSF GRCh37 16 30780214 30780214 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 53 116 0 ENST00000324685.6:c.2153G>A p.Ser718Asn p.S718N ENST00000324685 NM_014771.3 718 aGc/aAc 0 -RNF43 UCSF GRCh37 17 56436066 56436066 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 5 10 0 ENST00000407977.2:c.1071C>T p.Tyr357= p.Y357= ENST00000407977 357 taC/taT 0 -ROBO3 UCSF GRCh37 11 124747872 124747872 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 19 55 0 ENST00000397801.1:c.3026G>A p.Gly1009Asp p.G1009D ENST00000397801 NM_022370.3 1009 gGc/gAc 0 -RORA UCSF GRCh37 15 60803566 60803566 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 77 161 0 ENST00000261523.5:c.778C>T p.Pro260Ser p.P260S ENST00000261523 NM_134260.2 260 Cct/Tct 0 -RP1 UCSF GRCh37 8 55537248 55537248 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 64 172 0 ENST00000220676.1:c.806C>T p.Ser269Leu p.S269L ENST00000220676 NM_006269.1 269 tCa/tTa 0 -RP1 UCSF GRCh37 8 55539071 55539071 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 72 128 0 ENST00000220676.1:c.2629G>A p.Val877Met p.V877M ENST00000220676 NM_006269.1 877 Gtg/Atg 0 -RP2 UCSF GRCh37 X 46713551 46713551 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 61 132 0 ENST00000218340.3:c.743C>T p.Ala248Val p.A248V ENST00000218340 NM_006915.2 248 gCa/gTa 0 -RPA1 UCSF GRCh37 17 1775757 1775757 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 24 42 0 ENST00000254719.5:c.391G>A p.Ala131Thr p.A131T ENST00000254719 NM_002945.3 131 Gcg/Acg 0 -RPAP1 UCSF GRCh37 15 41813134 41813134 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 41 58 0 ENST00000304330.4:c.3250G>A p.Val1084Ile p.V1084I ENST00000304330 NM_015540.2 1084 Gtc/Atc 0 -RPE UCSF GRCh37 2 210880814 210880814 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 55 57 138 0 ENST00000359429.6:c.320A>G p.Asp107Gly p.D107G ENST00000359429 NM_199229.2 107 gAc/gGc 0 -RPGRIP1L UCSF GRCh37 16 53692758 53692758 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 34 32 82 0 ENST00000379925.3:c.1276G>A p.Glu426Lys p.E426K ENST00000379925 NM_015272.2 426 Gaa/Aaa 0 -RPL18 UCSF GRCh37 19 49119203 49119203 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 22 49 0 ENST00000549920.1:c.422G>A p.Gly141Asp p.G141D ENST00000549920 NM_000979.3 141 gGt/gAt 0 -RPL23 UCSF GRCh37 17 37006395 37006395 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 31 44 105 0 ENST00000479035.2:c.413G>A p.Ser138Asn p.S138N ENST00000479035 NM_000978.3 138 aGc/aAc 0 -RPL8 UCSF GRCh37 8 146016857 146016857 + missense_variant Missense_Mutation SNP G G A snp132_rs11539887 P10_Rec somatic WXS Sanger Illumina HiSeq 120 29 60 0 ENST00000262584.3:c.304C>T p.Leu102Phe p.L102F ENST00000262584 NM_000973.3 102 Ctc/Ttc 0 -RPL8 UCSF GRCh37 8 146016729 146016729 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 179 37 83 0 ENST00000262584.3:c.432G>A p.Lys144= p.K144= ENST00000262584 NM_000973.3 144 aaG/aaA 0 -RPS2 UCSF GRCh37 16 2012774 2012774 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 29 63 0 ENST00000343262.4:c.512G>A p.Gly171Glu p.G171E ENST00000343262 NM_002952.3 171 gGg/gAg 0 -RQCD1 UCSF GRCh37 2 219458860 219458860 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 50 129 0 ENST00000273064.6:c.761C>T p.Pro254Leu p.P254L ENST00000273064 NM_005444.2 254 cCt/cTt 0 -RRBP1 UCSF GRCh37 20 17594837 17594837 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 40 107 0 ENST00000377807.2:c.2924C>T p.Thr975Ile p.T975I ENST00000377807 NM_001042576.1 975 aCc/aTc 0 -RRN3 UCSF GRCh37 16 15188002 15188002 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 13 11 23 0 ENST00000198767.6:c.89G>A p.Gly30Glu p.G30E ENST00000198767 NM_018427.3 30 gGg/gAg 0 -RRP1 UCSF GRCh37 21 45212611 45212611 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 63 139 0 ENST00000497547.1:c.274+1G>A p.X92_splice ENST00000497547 NM_003683.5 0 -RRP15 UCSF GRCh37 1 218480886 218480886 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 41 124 0 ENST00000366932.3:c.617C>T p.Ser206Phe p.S206F ENST00000366932 NM_016052.3 206 tCc/tTc 0 -RSAD1 UCSF GRCh37 17 48562189 48562189 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 35 47 0 ENST00000258955.2:c.1296G>A p.Gln432= p.Q432= ENST00000258955 NM_018346.1 432 caG/caA 0 -RSG1 UCSF GRCh37 1 16558551 16558551 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 46 91 0 ENST00000375599.3:c.769C>T p.Pro257Ser p.P257S ENST00000375599 NM_030907.3 257 Cct/Tct 0 -RSPO1 UCSF GRCh37 1 38095290 38095290 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 29 49 0 ENST00000356545.2:c.44C>T p.Thr15Met p.T15M ENST00000356545 NM_001038633.3 15 aCg/aTg 0 -RSPO2 UCSF GRCh37 8 109001403 109001403 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 206 69 156 0 ENST00000276659.5:c.164G>A p.Cys55Tyr p.C55Y ENST00000276659 NM_178565.4 55 tGt/tAt 0 -RTN4 UCSF GRCh37 2 55252930 55252930 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 73 182 0 ENST00000337526.6:c.2305G>A p.Glu769Lys p.E769K ENST00000337526 NM_020532.4 769 Gaa/Aaa 0 -RTP1 UCSF GRCh37 3 186917483 186917483 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 35 76 0 ENST00000312295.4:c.417G>A p.Arg139= p.R139= ENST00000312295 NM_153708.2 139 cgG/cgA 0 -RTTN UCSF GRCh37 18 67781812 67781812 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 73 182 0 ENST00000255674.6:c.3552C>T p.Leu1184= p.L1184= ENST00000255674 NM_173630.3 1184 ctC/ctT 0 -RUFY3 UCSF GRCh37 4 71634350 71634350 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 91 187 1 ENST00000381006.3:c.668G>A p.Cys223Tyr p.C223Y ENST00000381006 NM_001037442.2 223 tGt/tAt 0 -RUSC2 UCSF GRCh37 9 35547678 35547678 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 104 166 0 ENST00000455600.1:c.1160C>T p.Ala387Val p.A387V ENST00000455600 NM_001135999.1 387 gCc/gTc 0 -RWDD1 UCSF GRCh37 6 116914127 116914161 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TGGTTGCCTTTTGCAGCTGGAAACAACGTGGAGGT TGGTTGCCTTTTGCAGCTGGAAACAACGTGGAGGT GGTTGCCTTTTGCAGCTGGAAAAAACGGGGGGGG NOVEL P10_Rec Untested WXS Illumina HiSeq 6 0 ENST00000466444.2:c.611-16_629delinsGGTTGCCTTTTGCAGCTGGAAAAAACGGGGGGGG p.X204_splice ENST00000466444 NM_015952.2 0 -RXFP3 UCSF GRCh37 5 33937149 33937149 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 53 90 0 ENST00000330120.3:c.304G>A p.Val102Ile p.V102I ENST00000330120 NM_016568.3 102 Gtt/Att 0 -RXRG UCSF GRCh37 1 165386444 165386444 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 43 150 0 ENST00000359842.5:c.456G>A p.Gly152= p.G152= ENST00000359842 NM_001256570.1 152 ggG/ggA 0 -RYK UCSF GRCh37 3 133941301 133941301 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 50 120 0 ENST00000296084.4:c.309G>A p.Glu103= p.E103= ENST00000296084 NM_001005861.2 103 gaG/gaA 0 -RYR1 UCSF GRCh37 19 38980901 38980901 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 42 39 69 0 ENST00000359596.3:c.6000C>T p.Ser2000= p.S2000= ENST00000359596 2000 tcC/tcT 0 -RYR2 UCSF GRCh37 1 237837510 237837510 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 98 82 181 0 ENST00000366574.2:c.8705C>T p.Ala2902Val p.A2902V ENST00000366574 NM_001035.2 2902 gCt/gTt 0 -RYR3 UCSF GRCh37 15 33954719 33954719 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 72 167 0 ENST00000389232.4:c.4988C>T p.Pro1663Leu p.P1663L ENST00000389232 NM_001036.3 1663 cCc/cTc 0 -RYR3 UCSF GRCh37 15 33833074 33833074 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 69 135 0 ENST00000389232.4:c.629G>A p.Gly210Glu p.G210E ENST00000389232 NM_001036.3 210 gGa/gAa 0 -S100PBP UCSF GRCh37 1 33292145 33292145 + missense_variant Missense_Mutation SNP G G T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 86 175 0 ENST00000373475.5:c.445G>T p.Ala149Ser p.A149S ENST00000373475 NM_022753.3 149 Gca/Tca 0 -S100PBP UCSF GRCh37 1 33293638 33293638 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 46 146 0 ENST00000373475.5:c.876G>A p.Glu292= p.E292= ENST00000373475 NM_022753.3 292 gaG/gaA 0 -S1PR3 UCSF GRCh37 9 91616800 91616800 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 117 45 102 0 ENST00000375846.3:c.685G>A p.Val229Met p.V229M ENST00000375846 229 Gtg/Atg 0 -SAFB UCSF GRCh37 19 5653129 5653129 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 38 95 0 ENST00000588852.1:c.1297G>A p.Val433Met p.V433M ENST00000588852 433 Gtg/Atg 0 -SALL1 UCSF GRCh37 16 51173853 51173853 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 76 105 0 ENST00000251020.4:c.2280C>T p.Pro760= p.P760= ENST00000251020 NM_002968.2 760 ccC/ccT 0 -SAMSN1 UCSF GRCh37 21 15858298 15858298 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 73 193 0 ENST00000285670.2:c.1261G>A p.Asp421Asn p.D421N ENST00000285670 NM_001256370.1 421 Gat/Aat 0 -SBF1 UCSF GRCh37 22 50893548 50893548 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 55 58 0 ENST00000380817.3:c.4578G>A p.Glu1526= p.E1526= ENST00000380817 NM_002972.2 1526 gaG/gaA 0 -SBNO2 UCSF GRCh37 19 1122245 1122245 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 11 22 0 ENST00000361757.3:c.1042C>T p.Leu348Phe p.L348F ENST00000361757 NM_014963.2 348 Ctc/Ttc 0 -SCAF8 UCSF GRCh37 6 155145427 155145427 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 113 192 0 ENST00000367178.3:c.1986G>A p.Ser662= p.S662= ENST00000367178 NM_014892.3 662 tcG/tcA 0 -SCAI UCSF GRCh37 9 127791974 127791974 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 35 105 0 ENST00000373549.4:c.344G>A p.Gly115Glu p.G115E ENST00000373549 NM_173690.4 115 gGa/gAa 0 -SCARA3 UCSF GRCh37 8 27516123 27516123 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 81 152 0 ENST00000301904.3:c.436C>T p.Gln146Ter p.Q146* ENST00000301904 NM_016240.2 146 Cag/Tag 0 -SCARF2 UCSF GRCh37 22 20780139 20780139 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 12 12 0 ENST00000266214.5:c.2139G>A p.Thr713= p.T713= ENST00000266214 NM_153334.4 713 acG/acA 0 -SCARF2 UCSF GRCh37 22 20783609 20783609 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 20 44 0 ENST00000266214.5:c.1458G>A p.Arg486= p.R486= ENST00000266214 NM_153334.4 486 agG/agA 0 -SCEL UCSF GRCh37 13 78182190 78182190 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 2 40 92 0 ENST00000349847.3:c.1158-1G>A p.X386_splice ENST00000349847 NM_144777.2 0 -SCFD1 UCSF GRCh37 14 31204805 31204805 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 50 114 0 ENST00000458591.2:c.1919G>A p.Gly640Glu p.G640E ENST00000458591 NM_016106.3 640 gGa/gAa 0 -SCG2 UCSF GRCh37 2 224463348 224463348 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 123 98 221 0 ENST00000305409.2:c.653G>A p.Arg218Lys p.R218K ENST00000305409 NM_003469.4 218 aGg/aAg 0 -SCG2 UCSF GRCh37 2 224463362 224463362 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 128 108 248 0 ENST00000305409.2:c.639C>T p.Asn213= p.N213= ENST00000305409 NM_003469.4 213 aaC/aaT 0 -SCGB1A1 UCSF GRCh37 11 62189706 62189706 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 66 115 0 ENST00000278282.2:c.69C>T p.Ile23= p.I23= ENST00000278282 NM_003357.4 23 atC/atT 0 -SCN11A UCSF GRCh37 3 38938584 38938584 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 62 117 0 ENST00000302328.3:c.2155G>A p.Gly719Ser p.G719S ENST00000302328 NM_014139.2 719 Ggc/Agc 0 -SCN2A UCSF GRCh37 2 166237114 166237114 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 49 140 0 ENST00000357398.3:c.4321C>T p.Pro1441Ser p.P1441S ENST00000357398 1441 Ccc/Tcc 0 -SCN3A UCSF GRCh37 2 166018830 166018830 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 84 94 0 ENST00000283254.7:c.1019G>A p.Gly340Asp p.G340D ENST00000283254 NM_001081676.1 340 gGc/gAc 0 -SCN4A UCSF GRCh37 17 62028875 62028875 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 72 134 0 ENST00000435607.1:c.2762C>T p.Thr921Ile p.T921I ENST00000435607 NM_000334.4 921 aCc/aTc 0 -SCN8A UCSF GRCh37 12 52162792 52162792 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 109 97 196 0 ENST00000354534.6:c.3045G>A p.Val1015= p.V1015= ENST00000354534 NM_014191.3 1015 gtG/gtA 0 -SCNN1A UCSF GRCh37 12 6471222 6471222 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 50 117 0 ENST00000360168.3:c.1047C>T p.Asn349= p.N349= ENST00000360168 NM_001159576.1 349 aaC/aaT 0 -SCRIB UCSF GRCh37 8 144896224 144896224 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 8 11 0 ENST00000356994.2:c.224C>T p.Pro75Leu p.P75L ENST00000356994 NM_182706.4 75 cCt/cTt 0 -SCRIB UCSF GRCh37 8 144888643 144888643 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 8 15 0 ENST00000356994.2:c.2280C>T p.Ile760= p.I760= ENST00000356994 NM_182706.4 760 atC/atT 0 -SCRIB UCSF GRCh37 8 144891862 144891862 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 164 41 62 0 ENST00000356994.2:c.1557C>T p.Gly519= p.G519= ENST00000356994 NM_182706.4 519 ggC/ggT 0 -SDCCAG3 UCSF GRCh37 9 139301920 139301920 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 22 36 0 ENST00000357365.3:c.496G>A p.Asp166Asn p.D166N ENST00000357365 NM_001039707.1 166 Gat/Aat 0 -SDCCAG8 UCSF GRCh37 1 243542141 243542141 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 69 137 0 ENST00000366541.3:c.1592C>T p.Ser531Phe p.S531F ENST00000366541 NM_006642.3 531 tCt/tTt 0 -SDK1 UCSF GRCh37 7 4185534 4185534 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 34 58 0 ENST00000404826.2:c.4409C>T p.Thr1470Ile p.T1470I ENST00000404826 NM_152744.3 1470 aCc/aTc 0 -SDK1 UCSF GRCh37 7 3991372 3991372 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 33 92 0 ENST00000404826.2:c.970G>A p.Asp324Asn p.D324N ENST00000404826 NM_152744.3 324 Gac/Aac 0 -SDK2 UCSF GRCh37 17 71429901 71429901 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 54 90 0 ENST00000392650.3:c.1282G>A p.Ala428Thr p.A428T ENST00000392650 NM_001144952.1 428 Gcg/Acg 0 -SDR42E1 UCSF GRCh37 16 82033718 82033718 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 105 88 224 0 ENST00000328945.5:c.180C>T p.His60= p.H60= ENST00000328945 NM_145168.2 60 caC/caT 0 -SEC16A UCSF GRCh37 9 139369238 139369238 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 208 92 199 0 ENST00000313050.7:c.2830G>A p.Asp944Asn p.D944N ENST00000313050 NM_014866.1 944 Gat/Aat 0 -SEC16A UCSF GRCh37 9 139350212 139350212 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 18 30 0 ENST00000313050.7:c.5698C>T p.Leu1900Phe p.L1900F ENST00000313050 NM_014866.1 1900 Ctc/Ttc 0 -SEC16A UCSF GRCh37 9 139351971 139351971 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 47 94 0 ENST00000313050.7:c.5475C>T p.Tyr1825= p.Y1825= ENST00000313050 NM_014866.1 1825 taC/taT 0 -SEC23A UCSF GRCh37 14 39532540 39532540 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 23 67 0 ENST00000307712.6:c.1386G>A p.Glu462= p.E462= ENST00000307712 NM_006364.2 462 gaG/gaA 0 -SEC24C UCSF GRCh37 10 75530134 75530134 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 129 117 234 0 ENST00000339365.2:c.2959C>T p.Leu987Phe p.L987F ENST00000339365 NM_004922.3 987 Ctc/Ttc 0 -SEC24C UCSF GRCh37 10 75510875 75510875 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 45 87 0 ENST00000339365.2:c.182G>A p.Arg61Lys p.R61K ENST00000339365 NM_004922.3 61 aGa/aAa 0 -SEC61B UCSF GRCh37 9 101984832 101984832 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 26 38 0 ENST00000223641.4:c.8G>A p.Gly3Asp p.G3D ENST00000223641 NM_006808.2 3 gGt/gAt 0 -SECTM1 UCSF GRCh37 17 80280234 80280234 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 37 56 0 ENST00000269389.3:c.550C>T p.Leu184Phe p.L184F ENST00000269389 NM_003004.2 184 Ctc/Ttc 0 -SELO UCSF GRCh37 22 50649208 50649208 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 5 79 92 0 ENST00000380903.2:c.1219G>A p.Ala407Thr p.A407T ENST00000380903 NM_031454.1 407 Gcc/Acc 0 -SEMA3E UCSF GRCh37 7 82997288 82997288 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 70 137 0 ENST00000307792.3:c.1942G>A p.Asp648Asn p.D648N ENST00000307792 NM_012431.2 648 Gat/Aat 0 -SEMA3F UCSF GRCh37 3 50219793 50219793 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 60 137 0 ENST00000002829.3:c.720G>A p.Gln240= p.Q240= ENST00000002829 NM_004186.3 240 caG/caA 0 -SEMA4B UCSF GRCh37 15 90771584 90771584 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 57 98 0 ENST00000411539.2:c.2223G>A p.Arg741= p.R741= ENST00000411539 NM_198925.2 741 cgG/cgA 0 -SEMA4C UCSF GRCh37 2 97533552 97533552 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 58 121 0 ENST00000305476.5:c.72G>A p.Trp24Ter p.W24* ENST00000305476 NM_017789.4 24 tgG/tgA 0 -SEMA6A UCSF GRCh37 5 115782564 115782564 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 53 115 0 ENST00000343348.6:c.2838C>T p.His946= p.H946= ENST00000343348 NM_020796.3 946 caC/caT 0 -SENP1 UCSF GRCh37 12 48458896 48458896 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P10_Rec Untested WXS Illumina HiSeq 68 0 ENST00000004980.5:c.1227delA p.Gly410ValfsTer4 p.G410Vfs*4 ENST00000004980 409 aaA/aa 0 -SENP1 UCSF GRCh37 12 48441857 48441857 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 53 161 0 ENST00000004980.5:c.1618G>A p.Asp540Asn p.D540N ENST00000004980 540 Gac/Aac 0 -SERAC1 UCSF GRCh37 6 158551514 158551514 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 25 60 0 ENST00000367104.3:c.743G>A p.Gly248Asp p.G248D ENST00000367104 NM_032861.3 248 gGt/gAt 0 -SERPINA11 UCSF GRCh37 14 94914727 94914727 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 110 182 0 ENST00000334708.3:c.385C>T p.Pro129Ser p.P129S ENST00000334708 NM_001080451.1 129 Ccc/Tcc 0 -SERPINH1 UCSF GRCh37 11 75277902 75277902 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 38 75 0 ENST00000524558.1:c.508C>T p.Leu170= p.L170= ENST00000524558 170 Ctg/Ttg 0 -SERPINI2 UCSF GRCh37 3 167159929 167159929 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 27 87 0 ENST00000476257.1:c.1186G>A p.Glu396Lys p.E396K ENST00000476257 NM_006217.4 396 Gag/Aag 0 -SESN2 UCSF GRCh37 1 28601468 28601468 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 57 99 0 ENST00000253063.3:c.1153G>A p.Asp385Asn p.D385N ENST00000253063 NM_031459.4 385 Gac/Aac 0 -SETD1A UCSF GRCh37 16 30977210 30977210 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 58 100 0 ENST00000262519.8:c.2008G>A p.Gly670Arg p.G670R ENST00000262519 NM_014712.1 670 Ggg/Agg 0 -SETD1B UCSF GRCh37 12 122261376 122261376 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 9 16 0 ENST00000267197.5:c.4762G>A p.Glu1588Lys p.E1588K ENST00000267197 NM_015048.1 1588 Gaa/Aaa 0 -SEZ6 UCSF GRCh37 17 27286234 27286234 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.000,snp132_rs117276370 P10_Rec Untested WXS Illumina HiSeq 68 74 125 1 ENST00000317338.12:c.1916G>A p.Arg639His p.R639H ENST00000317338 639 cGc/cAc 0 -SF1 UCSF GRCh37 11 64533474 64533474 + intron_variant Intron SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 13 14 0 ENST00000377387.1:c.1958-484C>T *653* ENST00000377387 NM_001178030.1 0 -SF3A1 UCSF GRCh37 22 30741012 30741012 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 111 163 0 ENST00000215793.8:c.561G>A p.Gln187= p.Q187= ENST00000215793 NM_005877.4 187 caG/caA 0 -SF3B3 UCSF GRCh37 16 70566422 70566422 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 125 95 198 0 ENST00000302516.5:c.611C>T p.Thr204Ile p.T204I ENST00000302516 NM_012426.4 204 aCc/aTc 0 -SGK1 UCSF GRCh37 6 134528570 134528570 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 70 167 0 ENST00000367858.5:c.286-1G>A p.X96_splice ENST00000367858 NM_001143676.1 0 -SGPL1 UCSF GRCh37 10 72631678 72631678 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 51 116 0 ENST00000373202.3:c.994C>T p.Pro332Ser p.P332S ENST00000373202 NM_003901.3 332 Cca/Tca 0 -SGPP1 UCSF GRCh37 14 64153035 64153035 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 81 184 0 ENST00000247225.6:c.1114G>A p.Gly372Arg p.G372R ENST00000247225 NM_030791.2 372 Ggg/Agg 0 -SH2B1 UCSF GRCh37 16 28877820 28877820 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 42 89 0 ENST00000322610.8:c.405C>T p.Ser135= p.S135= ENST00000322610 135 tcC/tcT 0 -SH2D5 UCSF GRCh37 1 21050210 21050210 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 13 26 0 ENST00000444387.2:c.817G>A p.Ala273Thr p.A273T ENST00000444387 NM_001103161.1 273 Gca/Aca 0 -SH3BP4 UCSF GRCh37 2 235949623 235949623 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 66 140 0 ENST00000409212.1:c.210C>T p.Asn70= p.N70= ENST00000409212 70 aaC/aaT 0 -SH3GLB2 UCSF GRCh37 9 131777142 131777142 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 134 67 157 0 ENST00000372564.3:c.376G>A p.Gly126Arg p.G126R ENST00000372564 NM_020145.2 126 Gga/Aga 0 -SH3GLB2 UCSF GRCh37 9 131772104 131772104 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 13 27 0 ENST00000372564.3:c.785C>T p.Thr262Ile p.T262I ENST00000372564 NM_020145.2 262 aCc/aTc 0 -SH3KBP1 UCSF GRCh37 X 19564131 19564131 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 64 124 0 ENST00000397821.3:c.1532G>A p.Ser511Asn p.S511N ENST00000397821 NM_031892.2 511 aGt/aAt 0 -SH3KBP1 UCSF GRCh37 X 19555892 19555892 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 77 151 0 ENST00000397821.3:c.1899G>A p.Glu633= p.E633= ENST00000397821 NM_031892.2 633 gaG/gaA 0 -SH3PXD2B UCSF GRCh37 5 171849445 171849445 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 19 41 0 ENST00000311601.5:c.131G>A p.Arg44His p.R44H ENST00000311601 NM_001017995.2 44 cGc/cAc 0 -SH3RF3 UCSF GRCh37 2 109964222 109964222 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 48 108 0 ENST00000309415.6:c.666C>T p.Val222= p.V222= ENST00000309415 NM_001099289.1 222 gtC/gtT 0 -SH3TC2 UCSF GRCh37 5 148406208 148406208 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 63 197 0 ENST00000515425.1:c.2980C>T p.Leu994Phe p.L994F ENST00000515425 NM_024577.3 994 Ctc/Ttc 0 -SHB UCSF GRCh37 9 38068081 38068081 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 9 10 0 ENST00000377707.3:c.562G>A p.Val188Met p.V188M ENST00000377707 NM_003028.2 188 Gtg/Atg 0 -SHC1 UCSF GRCh37 1 154942858 154942858 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 29 66 0 ENST00000448116.2:c.145C>T p.Leu49= p.L49= ENST00000448116 NM_001130040.1 49 Ctg/Ttg 0 -SHCBP1L UCSF GRCh37 1 182908644 182908644 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 30 77 0 ENST00000367547.3:c.815G>A p.Ser272Asn p.S272N ENST00000367547 NM_030933.2 272 aGt/aAt 0 -SHROOM4 UCSF GRCh37 X 50377013 50377013 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 41 98 0 ENST00000376020.2:c.2060C>T p.Pro687Leu p.P687L ENST00000376020 NM_020717.3 687 cCt/cTt 0 -SIDT1 UCSF GRCh37 3 113251941 113251941 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 7 17 0 ENST00000264852.4:c.73C>T p.Pro25Ser p.P25S ENST00000264852 NM_017699.2 25 Ccg/Tcg 0 -SIGLEC1 UCSF GRCh37 20 3672566 3672566 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 38 92 0 ENST00000344754.4:c.4314G>A p.Gly1438= p.G1438= ENST00000344754 NM_023068.3 1438 ggG/ggA 0 -SIGLEC8 UCSF GRCh37 19 51961292 51961292 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 116 229 0 ENST00000321424.3:c.350G>A p.Arg117Lys p.R117K ENST00000321424 NM_014442.2 117 aGg/aAg 0 -SIGLEC8 UCSF GRCh37 19 51960915 51960915 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 46 126 0 ENST00000321424.3:c.533C>T p.Pro178Leu p.P178L ENST00000321424 NM_014442.2 178 cCc/cTc 0 -SIN3A UCSF GRCh37 15 75664459 75664459 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 52 133 0 ENST00000394947.3:c.3683C>T p.Ala1228Val p.A1228V ENST00000394947 NM_001145358.1 1228 gCa/gTa 0 -SIPA1 UCSF GRCh37 11 65408730 65408730 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 56 106 0 ENST00000394224.3:c.338C>T p.Pro113Leu p.P113L ENST00000394224 NM_153253.29 113 cCt/cTt 0 -SIPA1L2 UCSF GRCh37 1 232577605 232577605 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 11 18 33 0 ENST00000366630.1:c.3447C>T p.Ser1149= p.S1149= ENST00000366630 1149 tcC/tcT 0 -SIRPA UCSF GRCh37 20 1902070 1902070 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 67 143 0 ENST00000358771.4:c.466C>T p.Pro156Ser p.P156S ENST00000358771 NM_001040023.1 156 Cct/Tct 0 -SIT1 UCSF GRCh37 9 35650018 35650018 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 19 35 0 ENST00000259608.3:c.418C>T p.Pro140Ser p.P140S ENST00000259608 NM_014450.2 140 Ccc/Tcc 0 -SIX1 UCSF GRCh37 14 61113237 61113237 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 35 42 88 0 ENST00000247182.6:c.619G>A p.Glu207Lys p.E207K ENST00000247182 NM_005982.3 207 Gaa/Aaa 0 -SKIL UCSF GRCh37 3 170078528 170078528 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 122 118 214 0 ENST00000458537.3:c.409C>T p.Pro137Ser p.P137S ENST00000458537 NM_001248008.1 137 Cct/Tct 0 -SKIC2 UCSF GRCh37 6 31935054 31935054 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 70 106 0 ENST00000375394.2:c.2483G>A p.Arg828His p.R828H ENST00000375394 NM_006929.4 828 cGc/cAc 0 -SKIC2 UCSF GRCh37 6 31928006 31928006 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 141 135 226 0 ENST00000375394.2:c.246G>A p.Gln82= p.Q82= ENST00000375394 NM_006929.4 82 caG/caA 0 -SKIV2L2 UCSF GRCh37 5 54637533 54637533 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 44 140 0 ENST00000230640.5:c.715G>A p.Gly239Ser p.G239S ENST00000230640 NM_015360.4 239 Ggt/Agt 0 -SLC10A1 UCSF GRCh37 14 70263533 70263533 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 29 65 0 ENST00000216540.4:c.340G>A p.Gly114Arg p.G114R ENST00000216540 NM_003049.3 114 Ggg/Agg 0 -SLC12A1 UCSF GRCh37 15 48548020 48548020 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 52 127 0 ENST00000396577.3:c.1955G>A p.Gly652Asp p.G652D ENST00000396577 NM_001184832.1 652 gGc/gAc 0 -SLC12A1 UCSF GRCh37 15 48559879 48559879 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 121 93 222 0 ENST00000396577.3:c.2276G>A p.Gly759Asp p.G759D ENST00000396577 NM_001184832.1 759 gGt/gAt 0 -SLC12A5 UCSF GRCh37 20 44683654 44683654 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 28 58 0 ENST00000454036.2:c.2848G>A p.Glu950Lys p.E950K ENST00000454036 NM_001134771.1 950 Gag/Aag 0 -SLC12A8 UCSF GRCh37 3 124826835 124826835 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 48 108 0 ENST00000393469.4:c.1195G>A p.Asp399Asn p.D399N ENST00000393469 NM_001195483.1 399 Gac/Aac 0 -SLC17A8 UCSF GRCh37 12 100813607 100813607 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 54 132 0 ENST00000323346.5:c.1440G>A p.Trp480Ter p.W480* ENST00000323346 NM_001145288.1 480 tgG/tgA 0 -SLC17A9 UCSF GRCh37 20 61593991 61593991 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 43 70 0 ENST00000370351.4:c.513G>A p.Gly171= p.G171= ENST00000370351 NM_022082.3 171 ggG/ggA 0 -SLC18A3 UCSF GRCh37 10 50818864 50818864 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 7 17 0 ENST00000374115.3:c.78G>A p.Gln26= p.Q26= ENST00000374115 NM_003055.2 26 caG/caA 0 -SLC20A1 UCSF GRCh37 2 113417272 113417272 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 102 99 197 0 ENST00000272542.3:c.1540C>T p.Leu514Phe p.L514F ENST00000272542 NM_005415.4 514 Ctc/Ttc 0 -SLC22A12 UCSF GRCh37 11 64359268 64359268 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 39 57 0 ENST00000377574.1:c.240C>T p.Gly80= p.G80= ENST00000377574 NM_144585.3 80 ggC/ggT 0 -SLC22A15 UCSF GRCh37 1 116569552 116569552 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 119 116 252 0 ENST00000369503.4:c.637C>T p.Gln213Ter p.Q213* ENST00000369503 NM_018420.2 213 Caa/Taa 0 -SLC22A25 UCSF GRCh37 11 62996921 62996921 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 79 163 0 ENST00000306494.6:c.204C>T p.Ser68= p.S68= ENST00000306494 NM_199352.3 68 agC/agT 0 -SLC22A7 UCSF GRCh37 6 43266456 43266456 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 44 96 0 ENST00000372585.5:c.360C>T p.Asp120= p.D120= ENST00000372585 NM_153320.2 120 gaC/gaT 0 -SLC22A8 UCSF GRCh37 11 62762197 62762197 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 43 106 0 ENST00000336232.2:c.1033G>A p.Ala345Thr p.A345T ENST00000336232 NM_001184736.1 345 Gct/Act 0 -SLC25A2 UCSF GRCh37 5 140682715 140682715 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 82 151 0 ENST00000239451.4:c.718C>T p.Leu240Phe p.L240F ENST00000239451 NM_031947.2 240 Ctt/Ttt 0 -SLC25A23 UCSF GRCh37 19 6454397 6454397 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 83 163 0 ENST00000301454.4:c.732C>T p.Gly244= p.G244= ENST00000301454 NM_024103.2 244 ggC/ggT 0 -SLC25A47 UCSF GRCh37 14 100793657 100793657 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 48 73 0 ENST00000361529.3:c.277C>T p.Pro93Ser p.P93S ENST00000361529 NM_207117.2 93 Ccc/Tcc 0 -SLC25A47 UCSF GRCh37 14 100792129 100792129 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 13 12 30 0 ENST00000361529.3:c.33C>T p.Val11= p.V11= ENST00000361529 NM_207117.2 11 gtC/gtT 0 -SLC26A3 UCSF GRCh37 7 107427920 107427920 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 75 204 0 ENST00000340010.5:c.770C>T p.Thr257Ile p.T257I ENST00000340010 NM_000111.2 257 aCt/aTt 0 -SLC26A7 UCSF GRCh37 8 92406050 92406050 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 246 70 188 0 ENST00000309536.2:c.1802G>A p.Ser601Asn p.S601N ENST00000309536 NM_134266.1 601 aGt/aAt 0 -SLC26A8 UCSF GRCh37 6 35945047 35945047 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 75 149 0 ENST00000490799.1:c.1107C>T p.Ser369= p.S369= ENST00000490799 NM_052961.3 369 tcC/tcT 0 -SLC27A1 UCSF GRCh37 19 17608123 17608123 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 21 36 0 ENST00000252595.7:c.1056G>A p.Ala352= p.A352= ENST00000252595 NM_198580.1 352 gcG/gcA 0 -SLC27A6 UCSF GRCh37 5 128368798 128368798 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 33 81 0 ENST00000262462.4:c.1684-1G>A p.X562_splice ENST00000262462 0 -SLC29A1 UCSF GRCh37 6 44197742 44197742 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 28 69 0 ENST00000393841.1:c.413C>T p.Pro138Leu p.P138L ENST00000393841 NM_001078177.1 138 cCc/cTc 0 -SLC2A12 UCSF GRCh37 6 134349911 134349911 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 82 167 0 ENST00000275230.5:c.1052C>T p.Ser351Phe p.S351F ENST00000275230 NM_145176.2 351 tCc/tTc 0 -SLC2A8 UCSF GRCh37 9 130167116 130167116 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 31 55 0 ENST00000373371.3:c.996C>T p.Ser332= p.S332= ENST00000373371 NM_014580.4 332 agC/agT 0 -SLC32A1 UCSF GRCh37 20 37356347 37356347 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 52 71 0 ENST00000217420.1:c.643G>A p.Val215Met p.V215M ENST00000217420 NM_080552.2 215 Gtg/Atg 0 -SLC34A1 UCSF GRCh37 5 176814997 176814997 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 24 40 0 ENST00000324417.5:c.647C>T p.Ala216Val p.A216V ENST00000324417 NM_003052.4 216 gCc/gTc 0 -SLC34A3 UCSF GRCh37 9 140130583 140130583 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 62 31 68 0 ENST00000538474.1:c.1515G>A p.Gly505= p.G505= ENST00000538474 NM_001177317.1 505 ggG/ggA 0 -SLC36A1 UCSF GRCh37 5 150838470 150838470 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 64 49 118 0 ENST00000243389.3:c.117G>A p.Gln39= p.Q39= ENST00000243389 NM_078483.2 39 caG/caA 0 -SLC38A2 UCSF GRCh37 12 46756118 46756118 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 33 74 0 ENST00000256689.5:c.1371C>T p.Phe457= p.F457= ENST00000256689 NM_018976.4 457 ttC/ttT 0 -SLC39A11 UCSF GRCh37 17 70645311 70645311 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 30 61 0 ENST00000542342.2:c.789C>T p.Phe263= p.F263= ENST00000542342 NM_001159770.1 263 ttC/ttT 0 -SLC39A12 UCSF GRCh37 10 18292187 18292187 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 169 80 206 0 ENST00000377369.2:c.1847G>A p.Gly616Glu p.G616E ENST00000377369 NM_001145195.1 616 gGa/gAa 0 -SLC39A14 UCSF GRCh37 8 22277162 22277162 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 86 153 0 ENST00000359741.5:c.1430C>T p.Thr477Ile p.T477I ENST00000359741 NM_015359.4 477 aCc/aTc 0 -SLC39A4 UCSF GRCh37 8 145641314 145641314 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 9 20 0 ENST00000301305.3:c.354C>T p.Leu118= p.L118= ENST00000301305 NM_130849.3 118 ctC/ctT 0 -SLC41A3 UCSF GRCh37 3 125786943 125786943 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 57 125 0 ENST00000315891.6:c.120C>T p.Leu40= p.L40= ENST00000315891 NM_017836.3 40 ctC/ctT 0 -SLC44A1 UCSF GRCh37 9 108061522 108061522 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 36 121 0 ENST00000374720.3:c.58C>T p.Pro20Ser p.P20S ENST00000374720 NM_080546.3 20 Ccg/Tcg 0 -SLC44A2 UCSF GRCh37 19 10742341 10742341 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 42 37 81 0 ENST00000335757.5:c.542G>A p.Gly181Asp p.G181D ENST00000335757 181 gGt/gAt 0 -SLC45A2 UCSF GRCh37 5 33947310 33947310 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 113 109 219 0 ENST00000296589.4:c.1326C>T p.Pro442= p.P442= ENST00000296589 NM_016180.3 442 ccC/ccT 0 -SLC4A10 UCSF GRCh37 2 162757488 162757488 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 56 167 0 ENST00000446997.1:c.1409G>A p.Gly470Glu p.G470E ENST00000446997 NM_001178015.1 470 gGa/gAa 0 -SLC4A2 UCSF GRCh37 7 150772436 150772436 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 68 81 0 ENST00000485713.1:c.3142C>T p.Leu1048Phe p.L1048F ENST00000485713 NM_001199692.1 1048 Ctc/Ttc 0 -SLC4A3 UCSF GRCh37 2 220504259 220504259 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 44 83 0 ENST00000373762.3:c.3160G>A p.Asp1054Asn p.D1054N ENST00000373762 NM_005070.3 1054 Gac/Aac 0 -SLC4A5 UCSF GRCh37 2 74492354 74492354 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 70 136 0 ENST00000377634.4:c.439G>A p.Glu147Lys p.E147K ENST00000377634 147 Gaa/Aaa 0 -SLC4A9 UCSF GRCh37 5 139744000 139744000 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 52 97 0 ENST00000230993.6:c.1513G>A p.Ala505Thr p.A505T ENST00000230993 NM_001258428.1 505 Gct/Act 0 -SLC5A10 UCSF GRCh37 17 18918429 18918429 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 24 36 0 ENST00000395647.2:c.1206C>T p.Asn402= p.N402= ENST00000395647 NM_152351.4 402 aaC/aaT 0 -SLC5A2 UCSF GRCh37 16 31499971 31499971 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 10 17 0 ENST00000330498.3:c.1158G>A p.Met386Ile p.M386I ENST00000330498 NM_003041.3 386 atG/atA 0 -SLC5A5 UCSF GRCh37 19 17994721 17994721 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 9 9 9 0 ENST00000222248.3:c.1392G>A p.Thr464= p.T464= ENST00000222248 NM_000453.2 464 acG/acA 0 -SLC5A8 UCSF GRCh37 12 101581270 101581270 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 52 139 0 ENST00000536262.2:c.857G>A p.Gly286Glu p.G286E ENST00000536262 NM_145913.3 286 gGa/gAa 0 -SLC6A17 UCSF GRCh37 1 110717545 110717545 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 29 69 0 ENST00000331565.4:c.716G>A p.Gly239Glu p.G239E ENST00000331565 NM_001010898.2 239 gGg/gAg 0 -SLC7A14 UCSF GRCh37 3 170219032 170219032 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 57 96 0 ENST00000231706.5:c.407G>A p.Gly136Asp p.G136D ENST00000231706 NM_020949.2 136 gGc/gAc 0 -SLC7A5 UCSF GRCh37 16 87873374 87873374 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 35 64 0 ENST00000261622.4:c.873G>A p.Leu291= p.L291= ENST00000261622 NM_003486.5 291 ctG/ctA 0 -SLC8A2 UCSF GRCh37 19 47935628 47935628 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 54 86 0 ENST00000236877.6:c.2185C>T p.Leu729= p.L729= ENST00000236877 NM_015063.2 729 Ctg/Ttg 0 -SLCO1B1 UCSF GRCh37 12 21377716 21377716 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 75 157 0 ENST00000256958.2:c.1808C>T p.Ser603Phe p.S603F ENST00000256958 NM_006446.4 603 tCc/tTc 0 -SLCO1B7 UCSF GRCh37 12 21175906 21175906 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 125 101 211 0 ENST00000421593.2:c.463G>A p.Glu155Lys p.E155K ENST00000421593 NM_001009562.4 155 Gaa/Aaa 0 -SLCO1B7 UCSF GRCh37 12 21176207 21176207 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 87 62 190 0 ENST00000421593.2:c.572G>A p.Gly191Glu p.G191E ENST00000421593 NM_001009562.4 191 gGa/gAa 0 -SLCO3A1 UCSF GRCh37 15 92663699 92663699 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 93 147 0 ENST00000318445.6:c.1014C>T p.Ile338= p.I338= ENST00000318445 NM_013272.3 338 atC/atT 0 -SLFN11 UCSF GRCh37 17 33689878 33689878 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 93 171 0 ENST00000394566.1:c.949G>A p.Val317Ile p.V317I ENST00000394566 NM_001104587.1 317 Gta/Ata 0 -SLFN5 UCSF GRCh37 17 33592592 33592592 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 100 157 1 ENST00000299977.4:c.2361G>A p.Pro787= p.P787= ENST00000299977 NM_144975.3 787 ccG/ccA 0 -SLIT2 UCSF GRCh37 4 20618640 20618640 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 53 128 0 ENST00000504154.1:c.3955G>A p.Asp1319Asn p.D1319N ENST00000504154 NM_004787.1 1319 Gac/Aac 0 -SLIT3 UCSF GRCh37 5 168233465 168233465 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 50 106 1 ENST00000519560.1:c.921G>A p.Glu307= p.E307= ENST00000519560 NM_003062.3 307 gaG/gaA 0 -SLITRK3 UCSF GRCh37 3 164907600 164907600 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 92 252 0 ENST00000475390.1:c.1019G>A p.Arg340Gln p.R340Q ENST00000475390 340 cGa/cAa 0 -SLITRK3 UCSF GRCh37 3 164907019 164907019 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 65 140 0 ENST00000475390.1:c.1600C>T p.Leu534= p.L534= ENST00000475390 534 Ctg/Ttg 0 -SLK UCSF GRCh37 10 105727625 105727625 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 73 142 0 ENST00000369755.3:c.122G>A p.Gly41Asp p.G41D ENST00000369755 NM_014720.2 41 gGc/gAc 0 -SLX4 UCSF GRCh37 16 3651005 3651005 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 40 97 0 ENST00000294008.3:c.1138G>A p.Gly380Ser p.G380S ENST00000294008 NM_032444.2 380 Ggt/Agt 0 -SMAD4 UCSF GRCh37 18 48604826 48604826 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 82 58 147 0 ENST00000342988.3:c.1648C>T p.Pro550Ser p.P550S ENST00000342988 NM_005359.5 550 Cct/Tct 0 -SMARCA2 UCSF GRCh37 9 2123736 2123736 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 26 52 0 ENST00000382203.1:c.3780G>A p.Arg1260= p.R1260= ENST00000382203 1260 cgG/cgA 0 -SMARCC1 UCSF GRCh37 3 47663775 47663775 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 73 220 0 ENST00000254480.5:c.2703G>A p.Glu901= p.E901= ENST00000254480 NM_003074.3 901 gaG/gaA 0 -SMCR8 UCSF GRCh37 17 18220963 18220963 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 105 154 0 ENST00000406438.3:c.1860G>A p.Arg620= p.R620= ENST00000406438 NM_144775.2 620 agG/agA 0 -SMG6 UCSF GRCh37 17 2200618 2200618 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 44 121 0 ENST00000263073.6:c.2070G>A p.Gln690= p.Q690= ENST00000263073 NM_017575.4 690 caG/caA 0 -SMG8 UCSF GRCh37 17 57290819 57290819 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 114 225 0 ENST00000543872.2:c.2635G>A p.Ala879Thr p.A879T ENST00000543872 879 Gct/Act 0 -SMG9 UCSF GRCh37 19 44251629 44251629 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 46 86 0 ENST00000270066.6:c.553G>A p.Asp185Asn p.D185N ENST00000270066 NM_019108.2 185 Gat/Aat 0 -SMG9 UCSF GRCh37 19 44251950 44251950 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 29 19 41 0 ENST00000270066.6:c.325G>A p.Gly109Arg p.G109R ENST00000270066 NM_019108.2 109 Ggg/Agg 0 -SMOX UCSF GRCh37 20 4164244 4164244 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 32 93 0 ENST00000305958.4:c.1473G>A p.Gly491= p.G491= ENST00000305958 NM_175839.2 491 ggG/ggA 0 -SMPD3 UCSF GRCh37 16 68405569 68405569 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 19 23 37 0 ENST00000219334.5:c.516C>T p.Asp172= p.D172= ENST00000219334 NM_018667.3 172 gaC/gaT 0 -SMPD4 UCSF GRCh37 2 130911459 130911459 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 28 102 0 ENST00000409031.1:c.1826C>T p.Ser609Phe p.S609F ENST00000409031 NM_017951.4 609 tCc/tTc 0 -SMYD4 UCSF GRCh37 17 1690757 1690757 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 11 18 0 ENST00000305513.7:c.1679C>T p.Ser560Leu p.S560L ENST00000305513 NM_052928.2 560 tCa/tTa 0 -SNAP47 UCSF GRCh37 1 227935765 227935765 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 38 90 0 ENST00000366759.4:c.463G>A p.Ala155Thr p.A155T ENST00000366759 NM_053052.3 155 Gca/Aca 0 -SNAP91 UCSF GRCh37 6 84302924 84302924 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 88 82 163 0 ENST00000439399.2:c.1751C>T p.Pro584Leu p.P584L ENST00000439399 NM_014841.2 584 cCt/cTt 0 -SNAPC4 UCSF GRCh37 9 139272750 139272750 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 15 20 0 ENST00000298532.2:c.3529G>A p.Glu1177Lys p.E1177K ENST00000298532 NM_003086.2 1177 Gag/Aag 0 -SNAPC4 UCSF GRCh37 9 139273417 139273417 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 10 23 0 ENST00000298532.2:c.2862G>A p.Gly954= p.G954= ENST00000298532 NM_003086.2 954 ggG/ggA 0 -SMT-ND1 UCSF GRCh37 7 127338952 127338952 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 37 114 0 ENST00000354725.3:c.373G>A p.Glu125Lys p.E125K ENST00000354725 NM_014390.2 125 Gaa/Aaa 0 -SNRNP70 UCSF GRCh37 19 49611115 49611115 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 9 14 0 ENST00000598441.1:c.729G>A p.Glu243= p.E243= ENST00000598441 243 gaG/gaA 0 -SNTB1 UCSF GRCh37 8 121823749 121823749 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 25 29 0 ENST00000395601.3:c.335G>A p.Gly112Asp p.G112D ENST00000395601 NM_021021.3 112 gGc/gAc 0 -SNX10 UCSF GRCh37 7 26411640 26411641 + frameshift_variant Frame_Shift_Del DEL TA TA - NOVEL P10_Rec Untested WXS Illumina HiSeq 56 0 ENST00000338523.4:c.512_513del p.Tyr171Ter p.Y171* ENST00000338523 NM_013322.2 171 TAt/t 0 -SNX14 UCSF GRCh37 6 86217778 86217778 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 34 60 0 ENST00000314673.3:c.2654-1G>A p.X885_splice ENST00000314673 NM_153816.3 0 -SNX25 UCSF GRCh37 4 186272737 186272737 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 57 135 0 ENST00000504273.1:c.1948C>T p.Pro650Ser p.P650S ENST00000504273 650 Cct/Tct 0 -SNX3 UCSF GRCh37 6 108582003 108582003 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 25 56 0 ENST00000230085.8:c.123C>T p.Val41= p.V41= ENST00000230085 NM_003795.4 41 gtC/gtT 0 -SNX30 UCSF GRCh37 9 115598667 115598667 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 199 96 159 0 ENST00000374232.3:c.792G>A p.Gln264= p.Q264= ENST00000374232 NM_001012994.1 264 caG/caA 0 -SOCS4 UCSF GRCh37 14 55510165 55510165 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 66 146 0 ENST00000395472.2:c.406C>T p.Pro136Ser p.P136S ENST00000395472 NM_080867.2 136 Cct/Tct 0 -SOCS7 UCSF GRCh37 17 36552203 36552203 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 44 92 0 ENST00000577233.1:c.1728G>A p.Glu576= p.E576= ENST00000577233 NM_014598.2 576 gaG/gaA 0 -SON UCSF GRCh37 21 34923735 34923735 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 104 199 0 ENST00000356577.4:c.2198C>T p.Ser733Phe p.S733F ENST00000356577 NM_138927.2 733 tCc/tTc 0 -SON UCSF GRCh37 21 34927520 34927520 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 50 78 0 ENST00000356577.4:c.5983C>T p.Pro1995Ser p.P1995S ENST00000356577 NM_138927.2 1995 Cca/Tca 0 -SORBS1 UCSF GRCh37 10 97131152 97131152 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 59 139 0 ENST00000371247.2:c.1836G>A p.Gln612= p.Q612= ENST00000371247 612 caG/caA 0 -SORBS2 UCSF GRCh37 4 186508806 186508806 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 19 12 42 0 ENST00000355634.5:c.3578C>T p.Pro1193Leu p.P1193L ENST00000355634 NM_001270771.1 1193 cCc/cTc 0 -SOX13 UCSF GRCh37 1 204095146 204095146 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 56 96 0 ENST00000367204.1:c.1753G>A p.Glu585Lys p.E585K ENST00000367204 NM_005686.2 585 Gag/Aag 0 -SOX15 UCSF GRCh37 17 7492604 7492604 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 13 32 0 ENST00000250055.2:c.391C>T p.Pro131Ser p.P131S ENST00000250055 NM_006942.1 131 Cct/Tct 0 -SOX2 UCSF GRCh37 3 181431096 181431096 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 12 22 0 ENST00000325404.1:c.948C>T p.His316= p.H316= ENST00000325404 NM_003106.3 316 caC/caT 0 -SOX6 UCSF GRCh37 11 16362714 16362714 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 86 143 0 ENST00000396356.3:c.81G>A p.Arg27= p.R27= ENST00000396356 NM_033326.3 27 agG/agA 0 -SOX7 UCSF GRCh37 8 10587927 10587927 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 15 11 24 0 ENST00000304501.1:c.17G>A p.Gly6Glu p.G6E ENST00000304501 NM_031439.3 6 gGa/gAa 0 -SP7 UCSF GRCh37 12 53722435 53722435 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 38 101 0 ENST00000536324.2:c.791G>A p.Gly264Glu p.G264E ENST00000536324 NM_001173467.1 264 gGg/gAg 0 -SPAG4 UCSF GRCh37 20 34207233 34207233 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 38 101 0 ENST00000374273.3:c.909+1G>A p.X303_splice ENST00000374273 NM_003116.1 0 -SPAG5 UCSF GRCh37 17 26919902 26919902 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 115 128 226 0 ENST00000321765.5:c.360C>T p.Asp120= p.D120= ENST00000321765 NM_006461.3 120 gaC/gaT 0 -SPAG6 UCSF GRCh37 10 22653922 22653922 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 47 110 0 ENST00000376624.3:c.262C>T p.Leu88Phe p.L88F ENST00000376624 NM_012443.3 88 Ctt/Ttt 0 -SPATA18 UCSF GRCh37 4 52946055 52946055 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 109 90 210 0 ENST00000295213.4:c.1325G>A p.Gly442Glu p.G442E ENST00000295213 NM_145263.2 442 gGa/gAa 0 -SPATS2 UCSF GRCh37 12 49912891 49912891 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 35 69 0 ENST00000553127.1:c.934C>T p.Leu312Phe p.L312F ENST00000553127 312 Ctt/Ttt 0 -SPDYA UCSF GRCh37 2 29039088 29039088 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 61 125 0 ENST00000334056.5:c.208G>A p.Asp70Asn p.D70N ENST00000334056 NM_182756.3 70 Gat/Aat 0 -SPEF1 UCSF GRCh37 20 3759405 3759405 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 38 63 0 ENST00000379756.3:c.467G>A p.Gly156Glu p.G156E ENST00000379756 NM_015417.4 156 gGg/gAg 0 -SPEN UCSF GRCh37 1 16262589 16262589 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 39 44 82 0 ENST00000375759.3:c.9854C>T p.Pro3285Leu p.P3285L ENST00000375759 NM_015001.2 3285 cCt/cTt 0 -SPEN UCSF GRCh37 1 16254682 16254682 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 90 186 0 ENST00000375759.3:c.1947C>T p.Asp649= p.D649= ENST00000375759 NM_015001.2 649 gaC/gaT 0 -SPG11 UCSF GRCh37 15 44865887 44865887 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 46 106 0 ENST00000261866.7:c.6063G>A p.Arg2021= p.R2021= ENST00000261866 NM_025137.3 2021 cgG/cgA 0 -SPON1 UCSF GRCh37 11 14284274 14284274 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 107 215 0 ENST00000310358.7:n.2548C>T *850* ENST00000310358 0 -SPTBN5 UCSF GRCh37 15 42145961 42145961 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 23 38 0 ENST00000320955.6:c.9799G>A p.Glu3267Lys p.E3267K ENST00000320955 NM_016642.3 3267 Gag/Aag 0 -SPTBN5 UCSF GRCh37 15 42143262 42143262 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 39 76 0 ENST00000320955.6:c.10830C>T p.Ser3610= p.S3610= ENST00000320955 NM_016642.3 3610 tcC/tcT 0 -SPTLC2 UCSF GRCh37 14 78028832 78028832 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 43 88 0 ENST00000216484.2:c.757G>A p.Gly253Ser p.G253S ENST00000216484 NM_004863.3 253 Ggt/Agt 0 -SQLE UCSF GRCh37 8 126034070 126034070 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 278 86 210 0 ENST00000265896.5:c.1608G>A p.Lys536= p.K536= ENST00000265896 NM_003129.3 536 aaG/aaA 0 -SRA1 UCSF GRCh37 5 139931739 139931739 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0047 P10_Rec Untested WXS Illumina HiSeq 36 21 48 0 ENST00000336283.6:c.218C>T p.Pro73Leu p.P73L ENST00000336283 NM_001035235.3 73 cCc/cTc 0 -SRCAP UCSF GRCh37 16 30749234 30749234 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 42 111 0 ENST00000262518.4:c.7873C>T p.Pro2625Ser p.P2625S ENST00000262518 NM_006662.2 2625 Cca/Tca 0 -SRCAP UCSF GRCh37 16 30749404 30749404 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 47 100 0 ENST00000262518.4:c.8043G>A p.Lys2681= p.K2681= ENST00000262518 NM_006662.2 2681 aaG/aaA 0 -SREBF1 UCSF GRCh37 17 17722445 17722445 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 52 107 0 ENST00000355815.4:c.1040C>T p.Ser347Phe p.S347F ENST00000355815 NM_001005291.2 347 tCt/tTt 0 -SREBF1 UCSF GRCh37 17 17719820 17719820 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 7 9 18 0 ENST00000355815.4:c.2088C>T p.Ala696= p.A696= ENST00000355815 NM_001005291.2 696 gcC/gcT 0 -SRP68 UCSF GRCh37 17 74053530 74053530 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 55 147 0 ENST00000307877.2:c.932G>A p.Arg311His p.R311H ENST00000307877 NM_014230.3 311 cGc/cAc 0 -SRP72 UCSF GRCh37 4 57335892 57335892 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 64 150 0 ENST00000342756.5:c.183C>T p.Phe61= p.F61= ENST00000342756 NM_006947.3 61 ttC/ttT 0 -SRRT UCSF GRCh37 7 100484763 100484763 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 84 138 0 ENST00000347433.4:c.1917C>T p.Arg639= p.R639= ENST00000347433 639 cgC/cgT 0 -SSBP2 UCSF GRCh37 5 80733256 80733256 + missense_variant Missense_Mutation SNP A A C NOVEL P10_Rec Untested WXS Illumina HiSeq 82 79 164 0 ENST00000320672.4:c.950T>G p.Ile317Ser p.I317S ENST00000320672 NM_001256732.1 317 aTt/aGt 0 -SSBP2 UCSF GRCh37 5 80809501 80809501 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 79 158 0 ENST00000320672.4:c.318C>T p.Asn106= p.N106= ENST00000320672 NM_001256732.1 106 aaC/aaT 0 -SSBP3 UCSF GRCh37 1 54704825 54704825 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 88 156 0 ENST00000371320.3:c.904C>T p.Pro302Ser p.P302S ENST00000371320 NM_145716.3 302 Ccg/Tcg 0 -SSH3 UCSF GRCh37 11 67075382 67075382 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 37 59 0 ENST00000308127.4:c.857G>A p.Ser286Asn p.S286N ENST00000308127 NM_017857.3 286 aGt/aAt 0 -SSH3 UCSF GRCh37 11 67075717 67075717 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 42 87 0 ENST00000308127.4:c.958C>T p.Leu320= p.L320= ENST00000308127 NM_017857.3 320 Ctg/Ttg 0 -SSPO UCSF GRCh37 7 149494363 149494363 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 54 126 0 ENST00000378016.2:n.6834C>T *2278* ENST00000378016 0 -SSPO UCSF GRCh37 7 149521558 149521558 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 19 27 47 0 ENST00000378016.2:n.13637C>T *4546* ENST00000378016 0 -SSPO UCSF GRCh37 7 149517757 149517757 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 8 16 0 ENST00000378016.2:n.12194G>A *4065* ENST00000378016 0 -SSPO UCSF GRCh37 7 149496924 149496924 + splice_region_variant,non_coding_transcript_exon_variant Splice_Region SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 38 36 70 1 ENST00000378016.2:n.6964A>G p.X2322_splice ENST00000378016 0 -SSPO UCSF GRCh37 7 149490472 149490472 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 12 25 0 ENST00000378016.2:n.5948G>A *1983* ENST00000378016 0 -ST7L UCSF GRCh37 1 113124626 113124626 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 104 228 0 ENST00000358039.4:c.1057G>A p.Ala353Thr p.A353T ENST00000358039 NM_138727.3 353 Gca/Aca 0 -STAB1 UCSF GRCh37 3 52539369 52539369 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 3 22 40 0 ENST00000321725.6:c.1553C>T p.Ala518Val p.A518V ENST00000321725 NM_015136.2 518 gCc/gTc 0 -STAB2 UCSF GRCh37 12 104136309 104136309 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 82 211 0 ENST00000388887.2:c.6008G>A p.Gly2003Glu p.G2003E ENST00000388887 NM_017564.9 2003 gGg/gAg 0 -STAB2 UCSF GRCh37 12 104134509 104134509 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 55 133 0 ENST00000388887.2:c.5856G>A p.Lys1952= p.K1952= ENST00000388887 NM_017564.9 1952 aaG/aaA 0 -STAB2 UCSF GRCh37 12 104144413 104144413 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 55 57 115 0 ENST00000388887.2:c.6495G>A p.Glu2165= p.E2165= ENST00000388887 NM_017564.9 2165 gaG/gaA 0 -STAG2 UCSF GRCh37 X 123197828 123197828 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 57 51 134 0 ENST00000218089.9:c.1952A>G p.Asp651Gly p.D651G ENST00000218089 NM_001042749.1 651 gAt/gGt 0 -STAG2 UCSF GRCh37 X 123197850 123197850 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 64 60 128 0 ENST00000218089.9:c.1974A>G p.Ile658Met p.I658M ENST00000218089 NM_001042749.1 658 atA/atG 0 -STAR UCSF GRCh37 8 38001867 38001867 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 9 26 0 ENST00000276449.4:c.782C>T p.Ser261Phe p.S261F ENST00000276449 NM_000349.2 261 tCc/tTc 0 -STAT3 UCSF GRCh37 17 40481593 40481593 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 135 109 190 0 ENST00000264657.5:c.1212C>T p.Leu404= p.L404= ENST00000264657 NM_139276.2 404 ctC/ctT 0 -STK10 UCSF GRCh37 5 171481694 171481694 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 68 105 0 ENST00000176763.5:c.2531C>T p.Ser844Phe p.S844F ENST00000176763 NM_005990.3 844 tCc/tTc 0 -STK32A UCSF GRCh37 5 146752788 146752788 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 125 96 201 0 ENST00000397936.3:c.834C>T p.Phe278= p.F278= ENST00000397936 NM_001112724.1 278 ttC/ttT 0 -STOX1 UCSF GRCh37 10 70646337 70646337 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 57 126 0 ENST00000298596.6:c.2785C>T p.His929Tyr p.H929Y ENST00000298596 NM_152709.4 929 Cac/Tac 0 -STXBP2 UCSF GRCh37 19 7707331 7707331 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 55 118 0 ENST00000221283.5:c.811C>T p.Leu271= p.L271= ENST00000221283 NM_006949.3 271 Ctg/Ttg 0 -STXBP5 UCSF GRCh37 6 147525712 147525712 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 17 13 33 0 ENST00000321680.6:c.44C>T p.Ala15Val p.A15V ENST00000321680 NM_001127715.2 15 gCc/gTc 0 -STXBP5L UCSF GRCh37 3 121132107 121132107 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 73 133 0 ENST00000273666.6:c.3123C>T p.Tyr1041= p.Y1041= ENST00000273666 NM_014980.2 1041 taC/taT 0 -STYK1 UCSF GRCh37 12 10772850 10772850 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 104 234 0 ENST00000075503.3:c.1162G>A p.Asp388Asn p.D388N ENST00000075503 NM_018423.2 388 Gat/Aat 0 -SUDS3 UCSF GRCh37 12 118823930 118823930 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 68 159 0 ENST00000543473.1:c.280G>A p.Glu94Lys p.E94K ENST00000543473 NM_022491.2 94 Gaa/Aaa 0 -SULT1A2 UCSF GRCh37 16 28604784 28604784 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 67 150 0 ENST00000395630.1:c.478G>A p.Glu160Lys p.E160K ENST00000395630 NM_177528.2 160 Gag/Aag 0 -SUN5 UCSF GRCh37 20 31571649 31571649 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 74 152 0 ENST00000356173.3:c.1091C>T p.Ala364Val p.A364V ENST00000356173 NM_080675.3 364 gCc/gTc 0 -SUSD1 UCSF GRCh37 9 114875083 114875083 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 107 38 137 0 ENST00000374270.3:c.952T>C p.Ser318Pro p.S318P ENST00000374270 NM_022486.3 318 Tca/Cca 0 -SV2A UCSF GRCh37 1 149878210 149878210 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 12 81 0 ENST00000369146.3:c.1877G>A p.Arg626Lys p.R626K ENST00000369146 NM_014849.4 626 aGa/aAa 0 -SVEP1 UCSF GRCh37 9 113238568 113238568 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 199 93 172 0 ENST00000401783.2:c.2515G>A p.Asp839Asn p.D839N ENST00000401783 NM_153366.3 839 Gac/Aac 0 -SVEP1 UCSF GRCh37 9 113169029 113169029 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 249 113 278 0 ENST00000401783.2:c.8851C>T p.Pro2951Ser p.P2951S ENST00000401783 NM_153366.3 2951 Cct/Tct 0 -SYCP1 UCSF GRCh37 1 115399279 115399279 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 43 100 0 ENST00000369522.3:c.193+1G>A p.X65_splice ENST00000369522 NM_003176.2 0 -SYK UCSF GRCh37 9 93607751 93607751 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 133 52 140 0 ENST00000375746.1:c.453G>A p.Lys151= p.K151= ENST00000375746 NM_001174167.1 151 aaG/aaA 0 -SYNE1 UCSF GRCh37 6 152674744 152674744 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 52 130 0 ENST00000367255.5:c.11062G>A p.Ala3688Thr p.A3688T ENST00000367255 NM_182961.3 3688 Gcc/Acc 0 -SYNE1 UCSF GRCh37 6 152605293 152605293 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 60 45 88 0 ENST00000367255.5:c.18027G>A p.Glu6009= p.E6009= ENST00000367255 NM_182961.3 6009 gaG/gaA 0 -SYNE1 UCSF GRCh37 6 152694193 152694193 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 141 140 228 0 ENST00000367255.5:c.9486C>T p.His3162= p.H3162= ENST00000367255 NM_182961.3 3162 caC/caT 0 -SYNE2 UCSF GRCh37 14 64460688 64460688 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 86 75 124 0 ENST00000358025.3:c.2781+1G>A p.X927_splice ENST00000358025 NM_182914.2 0 -SYNJ1 UCSF GRCh37 21 34060638 34060638 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 22 65 0 ENST00000433931.2:c.946G>A p.Ala316Thr p.A316T ENST00000433931 NM_003895.3 316 Gcc/Acc 0 -SYNPO UCSF GRCh37 5 149997948 149997948 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 5 9 25 0 ENST00000394243.1:c.19C>T p.Pro7Ser p.P7S ENST00000394243 NM_001166208.1 7 Cca/Tca 0 -SYNPO2 UCSF GRCh37 4 119952515 119952515 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 86 155 0 ENST00000307142.4:c.2585C>T p.Ser862Phe p.S862F ENST00000307142 NM_133477.2 862 tCc/tTc 0 -SYNPO2L UCSF GRCh37 10 75407132 75407132 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 66 111 0 ENST00000394810.2:c.2278G>A p.Glu760Lys p.E760K ENST00000394810 NM_001114133.1 760 Gag/Aag 0 -SYNRG UCSF GRCh37 17 35913924 35913924 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 84 173 0 ENST00000339208.6:c.1901C>T p.Ser634Leu p.S634L ENST00000339208 NM_001163544.1 634 tCa/tTa 0 -SYNRG UCSF GRCh37 17 35930963 35930963 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 119 83 205 0 ENST00000339208.6:c.1120C>T p.Pro374Ser p.P374S ENST00000339208 NM_001163544.1 374 Cct/Tct 0 -SYT10 UCSF GRCh37 12 33532825 33532825 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 71 175 0 ENST00000228567.3:c.1442G>A p.Trp481Ter p.W481* ENST00000228567 NM_198992.3 481 tGg/tAg 0 -SZT2 UCSF GRCh37 1 43897534 43897534 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 45 120 0 ENST00000562955.1:c.5065G>A p.Val1689Ile p.V1689I ENST00000562955 NM_015284.3 1689 Gta/Ata 0 -TAAR5 UCSF GRCh37 6 132910054 132910054 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 54 74 122 0 ENST00000258034.2:c.772G>A p.Val258Met p.V258M ENST00000258034 NM_003967.2 258 Gtg/Atg 0 -TACC3 UCSF GRCh37 4 1730443 1730443 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 40 66 0 ENST00000313288.4:c.1314G>A p.Arg438= p.R438= ENST00000313288 NM_006342.2 438 agG/agA 0 -TACR1 UCSF GRCh37 2 75425842 75425842 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 83 82 156 0 ENST00000305249.5:c.219C>T p.Asn73= p.N73= ENST00000305249 NM_001058.3 73 aaC/aaT 0 -TACR2 UCSF GRCh37 10 71176015 71176015 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 58 52 94 0 ENST00000373306.4:c.65G>A p.Gly22Asp p.G22D ENST00000373306 NM_001057.2 22 gGc/gAc 0 -TAF1L UCSF GRCh37 9 32633141 32633141 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 120 113 215 1 ENST00000242310.4:c.2437C>T p.Pro813Ser p.P813S ENST00000242310 NM_153809.2 813 Cct/Tct 0 -TAF3 UCSF GRCh37 10 8007315 8007315 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 156 82 170 0 ENST00000344293.5:c.1842G>A p.Glu614= p.E614= ENST00000344293 NM_031923.3 614 gaG/gaA 0 -TAF5 UCSF GRCh37 10 105145228 105145228 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 36 46 108 0 ENST00000369839.3:c.1810G>A p.Gly604Ser p.G604S ENST00000369839 NM_006951.3 604 Ggc/Agc 0 -TAGLN2 UCSF GRCh37 1 159889463 159889463 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 73 161 0 ENST00000368097.4:c.343G>A p.Asp115Asn p.D115N ENST00000368097 NM_003564.2 115 Gac/Aac 0 -TANC2 UCSF GRCh37 17 61489480 61489480 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0011 P10_Rec Untested WXS Illumina HiSeq 67 64 136 0 ENST00000424789.2:c.3665G>A p.Gly1222Glu p.G1222E ENST00000424789 NM_025185.3 1222 gGa/gAa 0 -TAPBP UCSF GRCh37 6 33281012 33281012 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 57 148 0 ENST00000426633.2:c.451C>T p.Leu151Phe p.L151F ENST00000426633 NM_172208.2 151 Ctc/Ttc 0 -TARSL2 UCSF GRCh37 15 102242566 102242566 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 94 179 0 ENST00000335968.3:c.1097G>A p.Gly366Asp p.G366D ENST00000335968 NM_152334.2 366 gGc/gAc 0 -TAS1R2 UCSF GRCh37 1 19186128 19186128 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 57 131 0 ENST00000375371.3:c.27C>T p.Ser9= p.S9= ENST00000375371 NM_152232.2 9 tcC/tcT 0 -TAS2R4 UCSF GRCh37 7 141479030 141479030 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 101 87 180 0 ENST00000247881.2:c.742G>A p.Val248Ile p.V248I ENST00000247881 NM_016944.1 248 Gtc/Atc 0 -TATDN2 UCSF GRCh37 3 10302232 10302232 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 88 166 0 ENST00000287652.4:c.826G>A p.Val276Ile p.V276I ENST00000287652 NM_014760.3 276 Gtt/Att 0 -TBC1D1 UCSF GRCh37 4 38134843 38134843 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 84 160 0 ENST00000261439.4:c.3271C>T p.Arg1091Cys p.R1091C ENST00000261439 NM_015173.3 1091 Cgc/Tgc 0 -TBC1D19 UCSF GRCh37 4 26737084 26737084 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 15 38 0 ENST00000264866.4:c.1092C>T p.Ile364= p.I364= ENST00000264866 NM_018317.2 364 atC/atT 0 -TBC1D24 UCSF GRCh37 16 2548319 2548319 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 16 13 34 0 ENST00000293970.5:c.1064C>T p.Ser355Phe p.S355F ENST00000293970 NM_001199107.1 355 tCc/tTc 0 -TBCEL UCSF GRCh37 11 120925837 120925837 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 75 155 0 ENST00000422003.2:c.532C>T p.Leu178= p.L178= ENST00000422003 NM_152715.3 178 Cta/Tta 0 -TBL1XR1 UCSF GRCh37 3 176763952 176763952 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 28 89 0 ENST00000430069.1:c.890C>T p.Thr297Ile p.T297I ENST00000430069 297 aCt/aTt 0 -TBX2 UCSF GRCh37 17 59485626 59485626 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 32 57 0 ENST00000240328.3:c.1898G>A p.Ser633Asn p.S633N ENST00000240328 NM_005994.3 633 aGc/aAc 0 -TBX4 UCSF GRCh37 17 59560522 59560522 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 71 119 0 ENST00000240335.1:c.1283G>A p.Ser428Asn p.S428N ENST00000240335 NM_018488.2 428 aGc/aAc 0 -TBXAS1 UCSF GRCh37 7 139661920 139661920 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 67 130 0 ENST00000416849.2:c.1163C>T p.Ala388Val p.A388V ENST00000416849 NM_001166253.1 388 gCt/gTt 0 -TC2N UCSF GRCh37 14 92264214 92264214 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 54 134 0 ENST00000435962.2:c.770G>A p.Gly257Glu p.G257E ENST00000435962 NM_001128596.1 257 gGa/gAa 0 -TCEB3 UCSF GRCh37 1 24077927 24077927 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 71 137 0 ENST00000418390.2:c.910G>A p.Glu304Lys p.E304K ENST00000418390 NM_003198.2 304 Gag/Aag 0 -TCF23 UCSF GRCh37 2 27375694 27375694 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 72 152 0 ENST00000296096.5:c.604C>T p.Leu202Phe p.L202F ENST00000296096 NM_175769.2 202 Ctt/Ttt 0 -TCTN3 UCSF GRCh37 10 97447086 97447086 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 42 90 0 ENST00000371217.5:c.654C>T p.Phe218= p.F218= ENST00000371217 218 ttC/ttT 0 -TCTN3 UCSF GRCh37 10 97453525 97453525 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 20 12 27 0 ENST00000371217.5:c.132C>T p.Gly44= p.G44= ENST00000371217 44 ggC/ggT 0 -TDRD1 UCSF GRCh37 10 115963291 115963291 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 84 178 0 ENST00000251864.2:c.946G>A p.Gly316Arg p.G316R ENST00000251864 NM_198795.1 316 Ggg/Agg 0 -TDRD5 UCSF GRCh37 1 179620034 179620034 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 81 223 0 ENST00000444136.1:c.1833C>T p.Phe611= p.F611= ENST00000444136 NM_001199089.1 611 ttC/ttT 0 -TDRD7 UCSF GRCh37 9 100235884 100235884 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 126 73 178 0 ENST00000355295.4:c.2055G>A p.Lys685= p.K685= ENST00000355295 NM_014290.2 685 aaG/aaA 0 -TDRD9 UCSF GRCh37 14 104431696 104431696 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 57 155 1 ENST00000409874.4:c.447C>T p.Ser149= p.S149= ENST00000409874 NM_153046.2 149 tcC/tcT 0 -TDRD9 UCSF GRCh37 14 104465049 104465049 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 119 216 0 ENST00000409874.4:c.1467C>T p.Ser489= p.S489= ENST00000409874 NM_153046.2 489 agC/agT 0 -TECPR2 UCSF GRCh37 14 102900784 102900784 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 64 160 0 ENST00000359520.7:c.1630C>T p.Pro544Ser p.P544S ENST00000359520 NM_014844.3 544 Ccc/Tcc 0 -TECPR2 UCSF GRCh37 14 102916172 102916172 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 46 130 1 ENST00000359520.7:c.3282G>A p.Lys1094= p.K1094= ENST00000359520 NM_014844.3 1094 aaG/aaA 0 -TEF UCSF GRCh37 22 41783452 41783452 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 4 69 102 0 ENST00000266304.4:c.255G>A p.Lys85= p.K85= ENST00000266304 NM_003216.3 85 aaG/aaA 0 -TENC1 UCSF GRCh37 12 53453352 53453352 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 34 54 0 ENST00000314276.3:c.1957C>T p.Leu653Phe p.L653F ENST00000314276 NM_015319.2 653 Ctc/Ttc 0 -TENC1 UCSF GRCh37 12 53453006 53453006 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 28 33 0 ENST00000314276.3:c.1611C>T p.Ser537= p.S537= ENST00000314276 NM_015319.2 537 tcC/tcT 0 -TEP1 UCSF GRCh37 14 20851479 20851479 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 31 42 65 0 ENST00000262715.5:c.3901G>A p.Ala1301Thr p.A1301T ENST00000262715 NM_007110.4 1301 Gca/Aca 0 -TERF1 UCSF GRCh37 8 73921345 73921345 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 18 45 0 ENST00000276603.5:c.224C>T p.Ala75Val p.A75V ENST00000276603 NM_017489.2 75 gCc/gTc 0 -TET2 UCSF GRCh37 4 106190870 106190870 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 55 51 114 0 ENST00000380013.4:c.4148G>A p.Arg1383Lys p.R1383K ENST00000380013 NM_001127208.2 1383 aGa/aAa 0 -TET3 UCSF GRCh37 2 74274381 74274381 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 44 119 0 ENST00000409262.3:c.932C>T p.Pro311Leu p.P311L ENST00000409262 NM_144993.1 311 cCc/cTc 0 -TEX10 UCSF GRCh37 9 103109180 103109180 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 195 100 191 0 ENST00000374902.4:c.689G>A p.Arg230Lys p.R230K ENST00000374902 NM_017746.3 230 aGa/aAa 0 -TEX15 UCSF GRCh37 8 30705592 30705592 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 71 50 149 0 ENST00000256246.2:c.942C>T p.Thr314= p.T314= ENST00000256246 NM_031271.3 314 acC/acT 0 -TEX15 UCSF GRCh37 8 30706429 30706429 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 105 97 202 0 ENST00000256246.2:c.105C>T p.Asn35= p.N35= ENST00000256246 NM_031271.3 35 aaC/aaT 0 -TFE3 UCSF GRCh37 X 48895560 48895560 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 16 12 40 0 ENST00000315869.7:c.860C>T p.Thr287Ile p.T287I ENST00000315869 NM_006521.4 287 aCc/aTc 0 -TFEB UCSF GRCh37 6 41653940 41653940 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 74 133 0 ENST00000230323.4:c.839C>T p.Ala280Val p.A280V ENST00000230323 NM_007162.2 280 gCc/gTc 0 -TG UCSF GRCh37 8 134144104 134144104 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 204 73 119 0 ENST00000220616.4:c.7911C>T p.Tyr2637= p.Y2637= ENST00000220616 NM_003235.4 2637 taC/taT 0 -TG UCSF GRCh37 8 133919027 133919027 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 133 38 61 0 ENST00000220616.4:c.3729G>A p.Gln1243= p.Q1243= ENST00000220616 NM_003235.4 1243 caG/caA 0 -TGFA UCSF GRCh37 2 70683575 70683575 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 11 26 0 ENST00000295400.6:c.261C>T p.Leu87= p.L87= ENST00000295400 NM_001099691.2 87 ctC/ctT 0 -TGFB1 UCSF GRCh37 19 41854289 41854289 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 84 165 0 ENST00000221930.5:c.427G>A p.Ala143Thr p.A143T ENST00000221930 NM_000660.4 143 Gcg/Acg 0 -TGFBR3 UCSF GRCh37 1 92262859 92262859 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 78 187 0 ENST00000212355.4:c.231C>T p.Gly77= p.G77= ENST00000212355 NM_001195683.1 77 ggC/ggT 0 -TGIF2LX UCSF GRCh37 X 89177490 89177490 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 67 152 0 ENST00000561129.2:c.406C>T p.Gln136Ter p.Q136* ENST00000561129 136 Cag/Tag 0 -TGM3 UCSF GRCh37 20 2290834 2290834 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 114 75 184 0 ENST00000381458.5:c.192C>T p.Pro64= p.P64= ENST00000381458 NM_003245.3 64 ccC/ccT 0 -THADA UCSF GRCh37 2 43655362 43655362 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 82 186 1 ENST00000405006.4:c.3935G>A p.Gly1312Glu p.G1312E ENST00000405006 NM_001083953.1 1312 gGa/gAa 0 -THBS2 UCSF GRCh37 6 169637393 169637393 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 32 81 0 ENST00000366787.3:c.1349C>T p.Ser450Phe p.S450F ENST00000366787 NM_003247.2 450 tCt/tTt 0 -THEG UCSF GRCh37 19 375960 375960 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 31 51 0 ENST00000342640.4:c.11G>A p.Ser4Asn p.S4N ENST00000342640 NM_016585.4 4 aGc/aAc 0 -THOC2 UCSF GRCh37 X 122759802 122759802 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 66 164 0 ENST00000245838.8:c.3018G>A p.Gln1006= p.Q1006= ENST00000245838 NM_001081550.1 1006 caG/caA 0 -THSD7A UCSF GRCh37 7 11468604 11468604 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 136 127 204 0 ENST00000423059.4:c.3213G>A p.Arg1071= p.R1071= ENST00000423059 NM_015204.2 1071 agG/agA 0 -THSD7B UCSF GRCh37 2 138169344 138169344 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 149 129 247 0 ENST00000272643.3:c.2861C>T p.Ala954Val p.A954V ENST00000272643 954 gCa/gTa 0 -THUMPD1 UCSF GRCh37 16 20750362 20750362 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 78 146 0 ENST00000381337.2:c.263G>A p.Ser88Asn p.S88N ENST00000381337 NM_017736.3 88 aGt/aAt 0 -TIA1 UCSF GRCh37 2 70443408 70443408 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 28 26 51 0 ENST00000433529.2:c.696G>A p.Gln232= p.Q232= ENST00000433529 NM_022173.2 232 caG/caA 0 -TIAM1 UCSF GRCh37 21 32525434 32525434 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 67 173 0 ENST00000286827.3:c.3190G>A p.Glu1064Lys p.E1064K ENST00000286827 NM_003253.2 1064 Gag/Aag 0 -TIGD5 UCSF GRCh37 8 144680339 144680339 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 4 9 0 ENST00000504548.2:c.266G>A p.Arg89His p.R89H ENST00000504548 NM_032862.4 89 cGc/cAc 0 -TIMELESS UCSF GRCh37 12 56826196 56826196 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 71 75 153 0 ENST00000553532.1:c.644G>A p.Ser215Asn p.S215N ENST00000553532 215 aGc/aAc 0 -TIMELESS UCSF GRCh37 12 56811993 56811993 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 124 94 182 0 ENST00000553532.1:c.3379A>G p.Lys1127Glu p.K1127E ENST00000553532 1127 Aaa/Gaa 0 -TJP2 UCSF GRCh37 9 71869199 71869199 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 154 80 138 0 ENST00000539225.1:c.3575C>T p.Ala1192Val p.A1192V ENST00000539225 NM_001170416.1 1192 gCc/gTc 0 -TJP2 UCSF GRCh37 9 71849405 71849405 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 45 137 0 ENST00000539225.1:c.1815C>T p.Tyr605= p.Y605= ENST00000539225 NM_001170416.1 605 taC/taT 0 -TKTL2 UCSF GRCh37 4 164393404 164393404 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 78 159 0 ENST00000280605.3:c.1483C>T p.Gln495Ter p.Q495* ENST00000280605 NM_032136.4 495 Cag/Tag 0 -TLK1 UCSF GRCh37 2 171884884 171884884 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 45 123 0 ENST00000431350.2:c.1201G>A p.Glu401Lys p.E401K ENST00000431350 401 Gaa/Aaa 0 -TLK1 UCSF GRCh37 2 171871453 171871453 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 73 78 188 0 ENST00000431350.2:c.1242G>A p.Glu414= p.E414= ENST00000431350 414 gaG/gaA 0 -TLL1 UCSF GRCh37 4 166981289 166981289 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 40 146 0 ENST00000061240.2:c.1956C>T p.Thr652= p.T652= ENST00000061240 NM_012464.4 652 acC/acT 0 -TLL2 UCSF GRCh37 10 98157046 98157046 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0015 P10_Rec Untested WXS Illumina HiSeq 54 43 81 0 ENST00000357947.3:c.1281C>T p.Gly427= p.G427= ENST00000357947 NM_012465.3 427 ggC/ggT 0 -TLN1 UCSF GRCh37 9 35725306 35725306 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 41 77 0 ENST00000314888.9:c.143G>A p.Gly48Glu p.G48E ENST00000314888 NM_006289.3 48 gGg/gAg 0 -TLN2 UCSF GRCh37 15 63008649 63008649 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 37 91 0 ENST00000561311.1:c.2754C>T p.Asn918= p.N918= ENST00000561311 918 aaC/aaT 0 -TLN2 UCSF GRCh37 15 63088326 63088326 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 40 98 0 ENST00000561311.1:c.5884G>A p.Val1962Ile p.V1962I ENST00000561311 1962 Gtc/Atc 0 -TM7SF3 UCSF GRCh37 12 27148236 27148236 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 92 65 135 0 ENST00000343028.4:c.624G>A p.Glu208= p.E208= ENST00000343028 NM_016551.2 208 gaG/gaA 0 -TMC2 UCSF GRCh37 20 2593935 2593935 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 33 51 120 0 ENST00000358864.1:c.1839C>T p.Asn613= p.N613= ENST00000358864 NM_080751.2 613 aaC/aaT 0 -TMC6 UCSF GRCh37 17 76118775 76118775 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 15 41 0 ENST00000590602.1:c.1138G>A p.Ala380Thr p.A380T ENST00000590602 380 Gcc/Acc 0 -TMC6 UCSF GRCh37 17 76116781 76116781 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 125 88 193 0 ENST00000590602.1:c.1668C>T p.Asp556= p.D556= ENST00000590602 556 gaC/gaT 0 -TMEM121 UCSF GRCh37 14 105995323 105995323 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 22 13 14 0 ENST00000392519.2:c.152G>A p.Cys51Tyr p.C51Y ENST00000392519 NM_025268.2 51 tGc/tAc 0 -TMEM131 UCSF GRCh37 2 98408904 98408904 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 27 17 40 0 ENST00000186436.5:c.4089C>T p.Ser1363= p.S1363= ENST00000186436 NM_015348.1 1363 tcC/tcT 0 -TMEM132C UCSF GRCh37 12 129190605 129190605 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 18 23 32 0 ENST00000435159.2:c.3092C>T p.Ser1031Phe p.S1031F ENST00000435159 NM_001136103.2 1031 tCc/tTc 0 -TMEM139 UCSF GRCh37 7 142983697 142983697 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 91 163 0 ENST00000359333.3:c.426G>A p.Arg142= p.R142= ENST00000359333 NM_001282876.1 142 agG/agA 0 -TMEM156 UCSF GRCh37 4 38995377 38995377 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 101 90 184 0 ENST00000381938.3:c.600C>T p.His200= p.H200= ENST00000381938 NM_024943.1 200 caC/caT 0 -TMEM201 UCSF GRCh37 1 9661350 9661350 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 50 84 0 ENST00000340381.6:c.794C>T p.Thr265Ile p.T265I ENST00000340381 NM_001130924.2 265 aCc/aTc 0 -TMEM205 UCSF GRCh37 19 11453739 11453739 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 49 37 71 0 ENST00000354882.5:c.322C>T p.Pro108Ser p.P108S ENST00000354882 108 Ccc/Tcc 0 -TMEM214 UCSF GRCh37 2 27261943 27261943 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 38 90 0 ENST00000238788.9:c.1436G>A p.Arg479Gln p.R479Q ENST00000238788 NM_017727.4 479 cGg/cAg 0 -TMEM232 UCSF GRCh37 5 109963542 109963542 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 37 84 0 ENST00000455884.2:c.541C>T p.Leu181= p.L181= ENST00000455884 181 Ctg/Ttg 0 -TMEM234 UCSF GRCh37 1 32682944 32682944 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 56 100 0 ENST00000309777.6:c.244C>T p.Leu82= p.L82= ENST00000309777 NM_019118.3 82 Ctg/Ttg 0 -TMEM237 UCSF GRCh37 2 202496808 202496808 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 126 97 216 0 ENST00000409883.2:c.519C>T p.Ser173= p.S173= ENST00000409883 NM_001044385.2 173 agC/agT 0 -TMEM38A UCSF GRCh37 19 16772124 16772124 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 10 10 0 ENST00000187762.2:c.96C>T p.Val32= p.V32= ENST00000187762 NM_024074.1 32 gtC/gtT 0 -TMEM47 UCSF GRCh37 X 34657462 34657462 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 44 77 0 ENST00000275954.3:c.269C>T p.Ala90Val p.A90V ENST00000275954 NM_031442.3 90 gCc/gTc 0 -TMEM59L UCSF GRCh37 19 18728993 18728993 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 27 96 0 ENST00000600490.1:c.693G>A p.Arg231= p.R231= ENST00000600490 231 agG/agA 0 -TMEM74 UCSF GRCh37 8 109796546 109796546 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 187 70 134 0 ENST00000297459.3:c.782G>A p.Arg261His p.R261H ENST00000297459 NM_153015.1 261 cGt/cAt 0 -TMPRSS15 UCSF GRCh37 21 19713814 19713814 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 79 177 0 ENST00000284885.3:c.1480G>A p.Asp494Asn p.D494N ENST00000284885 NM_002772.2 494 Gac/Aac 0 -TMTC3 UCSF GRCh37 12 88582692 88582692 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 58 128 0 ENST00000266712.6:c.1505C>T p.Ser502Phe p.S502F ENST00000266712 NM_181783.3 502 tCt/tTt 0 -TMUB1 UCSF GRCh37 7 150778822 150778822 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 14 9 15 0 ENST00000392818.3:c.555G>A p.Gly185= p.G185= ENST00000392818 NM_031434.3 185 ggG/ggA 0 -TNC UCSF GRCh37 9 117808778 117808778 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 231 96 219 0 ENST00000350763.4:c.5036G>A p.Gly1679Asp p.G1679D ENST00000350763 NM_002160.3 1679 gGt/gAt 0 -TNC UCSF GRCh37 9 117826119 117826119 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 151 65 159 0 ENST00000350763.4:c.3716C>T p.Thr1239Ile p.T1239I ENST00000350763 NM_002160.3 1239 aCt/aTt 0 -TNC UCSF GRCh37 9 117848837 117848837 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 163 74 124 0 ENST00000350763.4:c.1173G>A p.Arg391= p.R391= ENST00000350763 NM_002160.3 391 cgG/cgA 0 -TNFRSF11A UCSF GRCh37 18 60036604 60036604 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 53 49 98 0 ENST00000586569.1:c.1454G>A p.Ser485Asn p.S485N ENST00000586569 NM_001278268.1 485 aGc/aAc 0 -TNFRSF11B UCSF GRCh37 8 119945463 119945463 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 292 79 206 0 ENST00000297350.4:c.107C>T p.Ser36Phe p.S36F ENST00000297350 NM_002546.3 36 tCt/tTt 0 -TNFRSF1B UCSF GRCh37 1 12266822 12266822 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 43 93 0 ENST00000376259.3:c.1131C>T p.Thr377= p.T377= ENST00000376259 NM_001066.2 377 acC/acT 0 -TNIP1 UCSF GRCh37 5 150443200 150443200 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 57 111 0 ENST00000389378.2:c.245C>T p.Ser82Phe p.S82F ENST00000389378 NM_001252385.1 82 tCc/tTc 0 -TNK1 UCSF GRCh37 17 7286633 7286633 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 85 169 0 ENST00000576812.1:c.228C>T p.Val76= p.V76= ENST00000576812 NM_001251902.1 76 gtC/gtT 0 -TNK2 UCSF GRCh37 3 195594767 195594767 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 15 9 17 0 ENST00000381916.2:c.2591C>T p.Pro864Leu p.P864L ENST00000381916 NM_001010938.1 864 cCt/cTt 0 -TNKS1BP1 UCSF GRCh37 11 57069696 57069696 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 41 64 0 ENST00000532437.1:c.4686C>T p.Asp1562= p.D1562= ENST00000532437 1562 gaC/gaT 0 -TNNT2 UCSF GRCh37 1 201331124 201331124 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 86 64 152 0 ENST00000509001.1:c.606G>A p.Gln202= p.Q202= ENST00000509001 NM_001276347.1 202 caG/caA 0 -TNRC6A UCSF GRCh37 16 24788512 24788512 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 91 166 0 ENST00000395799.3:c.422G>A p.Arg141His p.R141H ENST00000395799 NM_014494.2 141 cGc/cAc 0 -TNRC6A UCSF GRCh37 16 24802403 24802403 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 38 122 0 ENST00000395799.3:c.2440G>A p.Val814Ile p.V814I ENST00000395799 NM_014494.2 814 Gtc/Atc 0 -TNS4 UCSF GRCh37 17 38636093 38636093 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 26 29 33 0 ENST00000254051.6:c.1743C>T p.Gly581= p.G581= ENST00000254051 NM_032865.5 581 ggC/ggT 0 -TOP3A UCSF GRCh37 17 18208448 18208448 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 62 126 0 ENST00000321105.5:c.477G>A p.Glu159= p.E159= ENST00000321105 NM_004618.3 159 gaG/gaA 0 -TOPBP1 UCSF GRCh37 3 133320145 133320145 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 79 59 139 0 ENST00000260810.5:c.4518G>A p.Lys1506= p.K1506= ENST00000260810 NM_007027.3 1506 aaG/aaA 0 -TOR2A UCSF GRCh37 9 130495707 130495707 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 89 49 94 0 ENST00000373284.5:c.550G>A p.Val184Ile p.V184I ENST00000373284 NM_001085347.2 184 Gta/Ata 0 -TOX UCSF GRCh37 8 59728200 59728200 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 53 44 106 0 ENST00000361421.1:c.1089C>T p.Ser363= p.S363= ENST00000361421 NM_014729.2 363 agC/agT 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 1 82 83 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TP53BP1 UCSF GRCh37 15 43769868 43769868 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 68 171 0 ENST00000382044.4:c.878G>A p.Gly293Glu p.G293E ENST00000382044 NM_001141980.1 293 gGa/gAa 0 -TP53BP2 UCSF GRCh37 1 223983936 223983936 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 110 91 150 0 ENST00000343537.7:c.2305G>A p.Glu769Lys p.E769K ENST00000343537 NM_001031685.2 769 Gag/Aag 0 -TP63 UCSF GRCh37 3 189455553 189455553 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 72 65 166 0 ENST00000264731.3:c.87C>T p.Phe29= p.F29= ENST00000264731 NM_003722.4 29 ttC/ttT 0 -TP73 UCSF GRCh37 1 3645890 3645890 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 35 57 0 ENST00000378295.4:c.1075-1G>A p.X359_splice ENST00000378295 NM_005427.3 0 -TPCN2 UCSF GRCh37 11 68840393 68840393 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 39 86 0 ENST00000294309.3:c.1154C>T p.Ser385Phe p.S385F ENST00000294309 NM_139075.3 385 tCc/tTc 0 -TPRN UCSF GRCh37 9 140086761 140086761 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0039 P10_Rec Untested WXS Illumina HiSeq 74 26 61 0 ENST00000409012.4:c.2023G>A p.Ala675Thr p.A675T ENST00000409012 NM_001128228.2 675 Gcg/Acg 0 -TPRN UCSF GRCh37 9 140087087 140087087 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 43 95 0 ENST00000409012.4:c.1782G>A p.Glu594= p.E594= ENST00000409012 NM_001128228.2 594 gaG/gaA 0 -TRABD UCSF GRCh37 22 50635990 50635990 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 46 76 0 ENST00000303434.4:c.644G>A p.Gly215Asp p.G215D ENST00000303434 NM_025204.2 215 gGc/gAc 0 -TRAF3IP3 UCSF GRCh37 1 209933650 209933650 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 25 39 0 ENST00000367024.1:c.266C>T p.Pro89Leu p.P89L ENST00000367024 89 cCc/cTc 0 -TRANK1 UCSF GRCh37 3 36873744 36873744 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 19 137 200 0 ENST00000429976.2:c.7198C>T p.Pro2400Ser p.P2400S ENST00000429976 2400 Cca/Tca 0 -TRAPPC6B UCSF GRCh37 14 39628700 39628700 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 43 134 0 ENST00000330149.5:c.136G>A p.Gly46Arg p.G46R ENST00000330149 NM_001079537.1 46 Gga/Aga 0 -TRAPPC9 UCSF GRCh37 8 141461167 141461167 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 294 71 138 0 ENST00000389328.4:c.600G>A p.Gln200= p.Q200= ENST00000389328 NM_031466.5 200 caG/caA 0 -TRDMT1 UCSF GRCh37 10 17195563 17195563 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 52 114 0 ENST00000377799.3:c.1018C>T p.Leu340= p.L340= ENST00000377799 NM_004412.5 340 Ctg/Ttg 0 -TREM1 UCSF GRCh37 6 41248854 41248854 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 59 42 114 0 ENST00000244709.4:c.444C>T p.Thr148= p.T148= ENST00000244709 NM_018643.3 148 acC/acT 0 -TREM2 UCSF GRCh37 6 41127546 41127546 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 25 83 0 ENST00000373113.3:c.466G>A p.Glu156Lys p.E156K ENST00000373113 NM_018965.3 156 Gag/Aag 0 -TREML1 UCSF GRCh37 6 41117489 41117489 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 106 80 135 0 ENST00000426005.2:c.789C>T p.Ser263= p.S263= ENST00000426005 NM_178174.3 263 tcC/tcT 0 -TRHDE UCSF GRCh37 12 72667167 72667167 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 45 87 0 ENST00000261180.4:c.609C>T p.Val203= p.V203= ENST00000261180 NM_013381.2 203 gtC/gtT 0 -TRIM15 UCSF GRCh37 6 30131780 30131780 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 35 81 0 ENST00000376694.4:c.319G>A p.Glu107Lys p.E107K ENST00000376694 NM_033229.2 107 Gag/Aag 0 -TRIM16L UCSF GRCh37 17 18630996 18630996 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 73 80 161 0 ENST00000449552.2:c.126G>A p.Arg42= p.R42= ENST00000449552 42 agG/agA 0 -TRIM33 UCSF GRCh37 1 114952805 114952805 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 70 142 0 ENST00000358465.2:c.2194+1G>A p.X732_splice ENST00000358465 NM_015906.3 0 -TRIM42 UCSF GRCh37 3 140407071 140407071 + missense_variant Missense_Mutation SNP T T G NOVEL P10_Rec Untested WXS Illumina HiSeq 85 65 156 0 ENST00000286349.3:c.1547T>G p.Ile516Ser p.I516S ENST00000286349 NM_152616.4 516 aTt/aGt 0 -TRIM50 UCSF GRCh37 7 72727137 72727137 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 9 14 0 ENST00000333149.2:c.1244G>A p.Gly415Glu p.G415E ENST00000333149 NM_001281450.1 415 gGg/gAg 0 -TRIM55 UCSF GRCh37 8 67040642 67040642 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 65 174 0 ENST00000315962.4:c.272G>A p.Gly91Glu p.G91E ENST00000315962 NM_184085.1 91 gGg/gAg 0 -TRIM7 UCSF GRCh37 5 180622331 180622331 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 25 16 31 0 ENST00000274773.7:c.1371C>T p.His457= p.H457= ENST00000274773 NM_203293.2 457 caC/caT 0 -TRIML1 UCSF GRCh37 4 189060893 189060893 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 79 154 0 ENST00000332517.3:c.181G>A p.Glu61Lys p.E61K ENST00000332517 NM_178556.3 61 Gag/Aag 0 -TRIOBP UCSF GRCh37 22 38106452 38106452 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 26 35 0 ENST00000406386.3:c.133G>A p.Gly45Ser p.G45S ENST00000406386 NM_001039141.2 45 Ggt/Agt 0 -TRIOBP UCSF GRCh37 22 38119897 38119897 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 97 201 0 ENST00000406386.3:c.1334G>A p.Arg445Lys p.R445K ENST00000406386 NM_001039141.2 445 aGa/aAa 0 -TRMT11 UCSF GRCh37 6 126319699 126319699 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 54 134 0 ENST00000334379.5:c.391C>T p.Leu131Phe p.L131F ENST00000334379 NM_001031712.2 131 Ctt/Ttt 0 -TRNAU1AP UCSF GRCh37 1 28891228 28891228 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 82 182 0 ENST00000373830.3:c.292C>T p.Leu98Phe p.L98F ENST00000373830 NM_017846.4 98 Ctc/Ttc 0 -TRO UCSF GRCh37 X 54949889 54949889 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 17 26 48 0 ENST00000173898.7:c.924G>A p.Arg308= p.R308= ENST00000173898 NM_001039705.2 308 agG/agA 0 -TRPC3 UCSF GRCh37 4 122803559 122803559 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 69 20 124 0 ENST00000379645.3:c.2573G>A p.Arg858Gln p.R858Q ENST00000379645 NM_001130698.1 858 cGg/cAg 0 -TRPC5 UCSF GRCh37 X 111195523 111195523 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 83 65 151 0 ENST00000262839.2:c.126G>A p.Lys42= p.K42= ENST00000262839 NM_012471.2 42 aaG/aaA 0 -TRPM2 UCSF GRCh37 21 45784113 45784113 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 61 145 0 ENST00000397928.1:c.371C>T p.Thr124Ile p.T124I ENST00000397928 NM_003307.3 124 aCc/aTc 0 -TRPM2 UCSF GRCh37 21 45826605 45826605 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 8 10 22 0 ENST00000397928.1:c.2919C>T p.His973= p.H973= ENST00000397928 NM_003307.3 973 caC/caT 0 -TRPM2 UCSF GRCh37 21 45825063 45825063 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 67 57 123 0 ENST00000397928.1:c.2577G>A p.Lys859= p.K859= ENST00000397928 NM_003307.3 859 aaG/aaA 0 -TRPM3 UCSF GRCh37 9 73150932 73150932 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 232 116 188 0 ENST00000377110.3:c.5061C>T p.Ser1687= p.S1687= ENST00000377110 1687 agC/agT 0 -TRPM3 UCSF GRCh37 9 73167824 73167824 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 192 94 200 0 ENST00000377110.3:c.3474C>T p.Phe1158= p.F1158= ENST00000377110 1158 ttC/ttT 0 -TRPM4 UCSF GRCh37 19 49714491 49714491 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 6 14 10 0 ENST00000252826.5:c.3605G>A p.Gly1202Asp p.G1202D ENST00000252826 NM_017636.3 1202 gGt/gAt 0 -TRPM4 UCSF GRCh37 19 49675322 49675322 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 77 52 128 0 ENST00000252826.5:c.1107G>A p.Gly369= p.G369= ENST00000252826 NM_017636.3 369 ggG/ggA 0 -TRPM6 UCSF GRCh37 9 77353524 77353524 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 54 119 0 ENST00000360774.1:c.5575C>T p.Leu1859= p.L1859= ENST00000360774 NM_017662.4 1859 Ctg/Ttg 0 -TRPS1 UCSF GRCh37 8 116426543 116426543 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 157 55 131 0 ENST00000395715.3:c.3593C>T p.Thr1198Met p.T1198M ENST00000395715 NM_014112.2 1198 aCg/aTg 0 -TRPV6 UCSF GRCh37 7 142572668 142572668 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 73 133 0 ENST00000359396.3:c.1275C>T p.Phe425= p.F425= ENST00000359396 NM_018646.4 425 ttC/ttT 0 -TRUB2 UCSF GRCh37 9 131071985 131071985 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 104 41 95 0 ENST00000372890.4:c.840G>A p.Gln280= p.Q280= ENST00000372890 NM_015679.1 280 caG/caA 0 -TSC1 UCSF GRCh37 9 135781026 135781026 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 173 80 182 0 ENST00000298552.3:c.1939G>A p.Glu647Lys p.E647K ENST00000298552 NM_001162426.1 647 Gaa/Aaa 0 -TSEN34 UCSF GRCh37 19 54695758 54695758 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 66 46 88 0 ENST00000396383.1:c.430G>A p.Ala144Thr p.A144T ENST00000396383 144 Gct/Act 0 -TSGA10 UCSF GRCh37 2 99635071 99635071 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 31 59 0 ENST00000393483.3:c.1850G>A p.Arg617Lys p.R617K ENST00000393483 NM_025244.2 617 aGa/aAa 0 -TSGA10IP UCSF GRCh37 11 65714692 65714692 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 44 23 47 0 ENST00000532620.1:n.627C>T *209* ENST00000532620 0 -TSHZ3 UCSF GRCh37 19 31768300 31768300 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 64 129 0 ENST00000240587.4:c.2399G>A p.Gly800Asp p.G800D ENST00000240587 NM_020856.2 800 gGc/gAc 0 -TSNARE1 UCSF GRCh37 8 143356193 143356193 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 8 15 0 ENST00000307180.3:c.1395C>T p.Ser465= p.S465= ENST00000307180 NM_145003.3 465 tcC/tcT 0 -TSNARE1 UCSF GRCh37 8 143427177 143427177 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 157 34 58 0 ENST00000307180.3:c.165C>T p.Arg55= p.R55= ENST00000307180 NM_145003.3 55 cgC/cgT 0 -TSPAN10 UCSF GRCh37 17 79612306 79612306 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 38 39 91 0 ENST00000328585.4:c.325G>A p.Gly109Arg p.G109R ENST00000328585 NM_031945.3 109 Gga/Aga 0 -TSPAN12 UCSF GRCh37 7 120450610 120450610 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 39 127 0 ENST00000222747.3:c.375G>A p.Trp125Ter p.W125* ENST00000222747 NM_012338.3 125 tgG/tgA 0 -TSPAN16 UCSF GRCh37 19 11422816 11422816 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 23 57 0 ENST00000316737.1:c.605G>A p.Gly202Asp p.G202D ENST00000316737 NM_012466.2 202 gGc/gAc 0 -TSSK1B UCSF GRCh37 5 112770079 112770079 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 83 160 0 ENST00000390666.3:c.458C>T p.Ser153Phe p.S153F ENST00000390666 NM_032028.3 153 tCc/tTc 0 -TSSK3 UCSF GRCh37 1 32829748 32829748 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 74 74 143 0 ENST00000373534.3:c.698G>A p.Ser233Asn p.S233N ENST00000373534 NM_052841.3 233 aGc/aAc 0 -TSTA3 UCSF GRCh37 8 144695091 144695091 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 14 20 0 ENST00000425753.2:c.955G>A p.Ala319Thr p.A319T ENST00000425753 NM_003313.3 319 Gcc/Acc 0 -TSTA3 UCSF GRCh37 8 144698311 144698311 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 324 75 155 0 ENST00000425753.2:c.226C>T p.Leu76= p.L76= ENST00000425753 NM_003313.3 76 Ctg/Ttg 0 -TSTD2 UCSF GRCh37 9 100373856 100373856 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 172 79 160 0 ENST00000341170.4:c.729G>A p.Lys243= p.K243= ENST00000341170 NM_139246.4 243 aaG/aaA 0 -TTBK2 UCSF GRCh37 15 43038251 43038251 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 58 144 0 ENST00000267890.6:c.3477C>T p.Ser1159= p.S1159= ENST00000267890 NM_173500.3 1159 tcC/tcT 0 -TTC17 UCSF GRCh37 11 43429077 43429077 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 2 44 110 0 ENST00000039989.4:c.2014C>T p.Leu672Phe p.L672F ENST00000039989 NM_018259.5 672 Ctt/Ttt 0 -TTC18 UCSF GRCh37 10 75053137 75053137 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 80 68 131 0 ENST00000310715.3:c.1864G>A p.Asp622Asn p.D622N ENST00000310715 NM_145170.3 622 Gat/Aat 0 -TTC24 UCSF GRCh37 1 156555537 156555537 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 113 123 204 0 ENST00000368236.3:c.1489C>T p.His497Tyr p.H497Y ENST00000368236 NM_001105669.2 497 Cac/Tac 0 -IFT56 UCSF GRCh37 7 138865855 138865855 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 77 59 105 0 ENST00000464848.1:c.1330C>T p.Pro444Ser p.P444S ENST00000464848 NM_001287513.1 444 Cca/Tca 0 -TTC28 UCSF GRCh37 22 28389370 28389370 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 10 25 0 ENST00000397906.2:c.5381C>T p.Pro1794Leu p.P1794L ENST00000397906 NM_001145418.1 1794 cCc/cTc 0 -TTC28 UCSF GRCh37 22 28494902 28494902 + splice_donor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 52 50 88 0 ENST00000397906.2:c.3547+1G>A p.X1183_splice ENST00000397906 NM_001145418.1 0 -TTC3 UCSF GRCh37 21 38538141 38538141 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 129 114 203 0 ENST00000399017.2:c.3625C>T p.Pro1209Ser p.P1209S ENST00000399017 NM_003316.3 1209 Cca/Tca 0 -TTC38 UCSF GRCh37 22 46679926 46679926 + synonymous_variant Silent SNP G G A snp132_rs5768270 P10_Rec Untested WXS Illumina HiSeq 9 81 203 0 ENST00000381031.3:c.792G>A p.Glu264= p.E264= ENST00000381031 NM_017931.2 264 gaG/gaA 0 -TTC7B UCSF GRCh37 14 91211201 91211201 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 58 149 0 ENST00000328459.6:c.511G>A p.Asp171Asn p.D171N ENST00000328459 NM_001010854.1 171 Gat/Aat 0 -TTLL2 UCSF GRCh37 6 167753706 167753706 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 63 102 0 ENST00000239587.5:c.318G>A p.Arg106= p.R106= ENST00000239587 NM_031949.4 106 agG/agA 0 -TTLL5 UCSF GRCh37 14 76165563 76165563 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 35 83 0 ENST00000298832.9:c.535G>A p.Val179Ile p.V179I ENST00000298832 NM_015072.4 179 Gta/Ata 0 -TTLL7 UCSF GRCh37 1 84335694 84335694 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 38 59 119 0 ENST00000260505.8:c.2615G>A p.Gly872Glu p.G872E ENST00000260505 NM_024686.4 872 gGa/gAa 0 -TTN UCSF GRCh37 2 179403718 179403718 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 91 64 169 0 ENST00000589042.1:c.98944G>A p.Glu32982Lys p.E32982K ENST00000589042 NM_001267550.1 32982 Gag/Aag 0 -TTN UCSF GRCh37 2 179616401 179616401 + intron_variant Intron SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 85 81 197 0 ENST00000589042.1:c.11311+1450G>A *3771* ENST00000589042 NM_001267550.1 0 -TTN UCSF GRCh37 2 179469033 179469033 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 68 58 128 0 ENST00000589042.1:c.54382-1G>A p.X18128_splice ENST00000589042 NM_001267550.1 0 -TTN UCSF GRCh37 2 179629420 179629420 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 71 174 0 ENST00000589042.1:c.9822G>A p.Lys3274= p.K3274= ENST00000589042 NM_001267550.1 3274 aaG/aaA 0 -TUBD1 UCSF GRCh37 17 57963589 57963589 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 76 50 112 0 ENST00000325752.3:c.175C>T p.Pro59Ser p.P59S ENST00000325752 NM_016261.3 59 Cca/Tca 0 -TUBGCP3 UCSF GRCh37 13 113176698 113176698 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 7 63 150 0 ENST00000261965.3:c.1681G>A p.Ala561Thr p.A561T ENST00000261965 NM_006322.4 561 Gca/Aca 0 -TULP3 UCSF GRCh37 12 3046829 3046829 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 11 55 0 ENST00000397132.2:c.957G>A p.Arg319= p.R319= ENST00000397132 NM_001160408.1 319 agG/agA 0 -TUSC3 UCSF GRCh37 8 15398061 15398061 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 18 41 0 ENST00000503731.1:c.122G>A p.Gly41Glu p.G41E ENST00000503731 NM_006765.3 41 gGa/gAa 0 -TWF2 UCSF GRCh37 3 52263952 52263952 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 3 36 59 0 ENST00000305533.5:c.744C>T p.Asp248= p.D248= ENST00000305533 NM_007284.3 248 gaC/gaT 0 -TXLNG UCSF GRCh37 X 16847817 16847817 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 67 159 0 ENST00000380122.5:c.788C>T p.Ala263Val p.A263V ENST00000380122 NM_018360.2 263 gCc/gTc 0 -TXNDC17 UCSF GRCh37 17 6546334 6546334 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 54 128 0 ENST00000250101.5:c.367G>A p.Asp123Asn p.D123N ENST00000250101 NM_032731.3 123 Gat/Aat 0 -TXNDC2 UCSF GRCh37 18 9887505 9887505 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 123 118 231 0 ENST00000306084.6:c.1029C>T p.Asp343= p.D343= ENST00000306084 NM_001098529.1 343 gaC/gaT 0 -UBE3C UCSF GRCh37 7 156967682 156967682 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 104 110 217 0 ENST00000348165.5:c.412C>T p.Leu138Phe p.L138F ENST00000348165 NM_014671.2 138 Ctt/Ttt 0 -UBR2 UCSF GRCh37 6 42658896 42658896 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 84 163 0 ENST00000372899.1:c.5253C>T p.Asp1751= p.D1751= ENST00000372899 NM_015255.2 1751 gaC/gaT 0 -UBR3 UCSF GRCh37 2 170806358 170806358 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 146 112 233 0 ENST00000418381.1:c.3328C>T p.Pro1110Ser p.P1110S ENST00000418381 NM_172070.3 1110 Cct/Tct 0 -UBR5 UCSF GRCh37 8 103323703 103323703 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 195 61 153 0 ENST00000520539.1:c.2440G>A p.Asp814Asn p.D814N ENST00000520539 NM_015902.5 814 Gat/Aat 0 -UBXN11 UCSF GRCh37 1 26609419 26609419 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 40 80 0 ENST00000374222.1:c.1087C>T p.Pro363Ser p.P363S ENST00000374222 363 Cca/Tca 0 -UBXN2B UCSF GRCh37 8 59346977 59346977 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 24 32 65 0 ENST00000399598.2:c.447G>A p.Trp149Ter p.W149* ENST00000399598 NM_001077619.1 149 tgG/tgA 0 -UCK1 UCSF GRCh37 9 134404345 134404345 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 41 44 0 ENST00000372211.3:c.604G>A p.Glu202Lys p.E202K ENST00000372211 202 Gag/Aag 0 -UGCG UCSF GRCh37 9 114676906 114676906 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 152 53 172 0 ENST00000374279.3:c.120G>A p.Lys40= p.K40= ENST00000374279 NM_003358.1 40 aaG/aaA 0 -UGT1A4 UCSF GRCh37 2 234627943 234627943 + synonymous_variant Silent SNP G G A snp132_rs45467894 P10_Rec Untested WXS Illumina HiSeq 226 36 222 0 ENST00000373409.3:c.477G>A p.Ala159= p.A159= ENST00000373409 NM_007120.2 159 gcG/gcA 0 -UGT1A7 UCSF GRCh37 2 234590941 234590942 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 0 ENST00000373426.3:c.364dup p.Ser122PhefsTer8 p.S122Ffs*8 ENST00000373426 NM_019077.2 120 ttt/tTtt 0 -UGT2A1 UCSF GRCh37 4 70512715 70512715 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 58 154 0 ENST00000503640.1:c.648C>T p.Tyr216= p.Y216= ENST00000503640 NM_006798.3 216 taC/taT 0 -UGT2B10 UCSF GRCh37 4 69886008 69886008 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 146 111 259 0 ENST00000505092.1:n.125G>A *42* ENST00000505092 0 -UHRF2 UCSF GRCh37 9 6413522 6413522 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 5 13 43 0 ENST00000276893.5:c.32C>T p.Ser11Phe p.S11F ENST00000276893 NM_152896.2 11 tCc/tTc 0 -ULK2 UCSF GRCh37 17 19689373 19689373 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 40 58 124 0 ENST00000395544.4:c.2128C>T p.Leu710= p.L710= ENST00000395544 NM_014683.3 710 Ctg/Ttg 0 -UMOD UCSF GRCh37 16 20357622 20357622 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 45 37 135 0 ENST00000570689.1:c.1008G>A p.Gly336= p.G336= ENST00000570689 336 ggG/ggA 0 -UNC45A UCSF GRCh37 15 91479194 91479194 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 23 81 0 ENST00000418476.2:c.232G>A p.Glu78Lys p.E78K ENST00000418476 NM_018671.3 78 Gaa/Aaa 0 -UNC45A UCSF GRCh37 15 91486252 91486252 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 63 59 131 0 ENST00000418476.2:c.967G>A p.Val323Met p.V323M ENST00000418476 NM_018671.3 323 Gtg/Atg 0 -UNC5D UCSF GRCh37 8 35647908 35647908 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 74 68 150 0 ENST00000404895.2:c.2689C>T p.Pro897Ser p.P897S ENST00000404895 NM_080872.2 897 Cca/Tca 0 -UNC79 UCSF GRCh37 14 94121687 94121687 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 119 72 191 0 ENST00000256339.4:c.5976C>T p.Leu1992= p.L1992= ENST00000256339 NM_020818.3 1992 ctC/ctT 0 -UNKL UCSF GRCh37 16 1463919 1463919 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 8 9 0 ENST00000389221.4:c.215C>T p.Thr72Ile p.T72I ENST00000389221 NM_001193388.3 72 aCc/aTc 0 -UPF2 UCSF GRCh37 10 12071404 12071404 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 203 79 209 0 ENST00000356352.2:c.485G>A p.Ser162Asn p.S162N ENST00000356352 162 aGc/aAc 0 -UROC1 UCSF GRCh37 3 126211339 126211339 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 21 33 0 ENST00000383579.3:c.1710G>A p.Arg570= p.R570= ENST00000383579 NM_001165974.1 570 agG/agA 0 -USH1G UCSF GRCh37 17 72916727 72916727 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 41 70 0 ENST00000319642.1:c.204C>T p.Pro68= p.P68= ENST00000319642 NM_173477.2 68 ccC/ccT 0 -USP14 UCSF GRCh37 18 199201 199201 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 67 164 0 ENST00000261601.7:c.762-1G>A p.X254_splice ENST00000261601 NM_005151.3 0 -USP16 UCSF GRCh37 21 30421082 30421082 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 47 96 0 ENST00000334352.4:c.2012G>A p.Gly671Asp p.G671D ENST00000334352 NM_001032410.1 671 gGt/gAt 0 -USP29 UCSF GRCh37 19 57641558 57641558 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 118 98 222 0 ENST00000254181.4:c.1515G>A p.Arg505= p.R505= ENST00000254181 NM_020903.2 505 agG/agA 0 -USP31 UCSF GRCh37 16 23083470 23083470 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 61 39 93 0 ENST00000219689.7:c.2384G>A p.Gly795Asp p.G795D ENST00000219689 NM_020718.3 795 gGc/gAc 0 -USP31 UCSF GRCh37 16 23093858 23093858 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 48 43 100 0 ENST00000219689.7:c.1851G>A p.Trp617Ter p.W617* ENST00000219689 NM_020718.3 617 tgG/tgA 0 -USP37 UCSF GRCh37 2 219399332 219399332 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 72 119 0 ENST00000258399.3:c.778G>A p.Gly260Arg p.G260R ENST00000258399 NM_020935.2 260 Ggg/Agg 0 -USP42 UCSF GRCh37 7 6193961 6193961 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 13 22 0 ENST00000306177.5:c.2776G>A p.Asp926Asn p.D926N ENST00000306177 NM_032172.2 926 Gac/Aac 0 -USP49 UCSF GRCh37 6 41773902 41773902 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 54 127 0 ENST00000373006.1:c.820C>T p.Leu274Phe p.L274F ENST00000373006 NM_018561.3 274 Ctc/Ttc 0 -USP53 UCSF GRCh37 4 120192956 120192956 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 102 100 201 0 ENST00000450251.1:c.1941G>A p.Lys647= p.K647= ENST00000450251 647 aaG/aaA 0 -USP6 UCSF GRCh37 17 5042941 5042941 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 57 57 105 0 ENST00000574788.1:c.1470C>T p.Thr490= p.T490= ENST00000574788 490 acC/acT 0 -USP6 UCSF GRCh37 17 5049340 5049340 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 85 190 0 ENST00000574788.1:c.2190C>T p.Thr730= p.T730= ENST00000574788 730 acC/acT 0 -USP6NL UCSF GRCh37 10 11531176 11531176 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 188 97 232 0 ENST00000277575.5:c.640C>T p.Leu214Phe p.L214F ENST00000277575 NM_001080491.2 214 Ctc/Ttc 0 -USP7 UCSF GRCh37 16 9017133 9017133 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 67 164 0 ENST00000344836.4:c.322G>A p.Asp108Asn p.D108N ENST00000344836 NM_003470.2 108 Gac/Aac 0 -USP9X UCSF GRCh37 X 41031163 41031163 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 83 67 172 0 ENST00000324545.8:c.3100C>T p.Pro1034Ser p.P1034S ENST00000324545 NM_001039590.2 1034 Cca/Tca 0 -UST UCSF GRCh37 6 149340293 149340293 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 68 171 0 ENST00000367463.4:c.700C>T p.Leu234Phe p.L234F ENST00000367463 NM_005715.2 234 Ctt/Ttt 0 -UTP23 UCSF GRCh37 8 117783700 117783700 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 221 68 168 0 ENST00000309822.2:c.369G>A p.Gln123= p.Q123= ENST00000309822 NM_032334.2 123 caG/caA 0 -UTP6 UCSF GRCh37 17 30207669 30207669 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 90 227 0 ENST00000261708.4:c.890C>T p.Ala297Val p.A297V ENST00000261708 NM_018428.2 297 gCc/gTc 0 -UTRN UCSF GRCh37 6 145157578 145157578 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 73 147 0 ENST00000367545.3:c.9966G>A p.Arg3322= p.R3322= ENST00000367545 NM_007124.2 3322 agG/agA 0 -VANGL1 UCSF GRCh37 1 116226592 116226592 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 45 110 0 ENST00000355485.2:c.974C>T p.Ser325Phe p.S325F ENST00000355485 NM_001172411.1 325 tCc/tTc 0 -VARS2 UCSF GRCh37 6 30890299 30890299 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 70 124 0 ENST00000541562.1:c.2095C>T p.Pro699Ser p.P699S ENST00000541562 NM_001167734.1 699 Cca/Tca 0 -VAV1 UCSF GRCh37 19 6825417 6825417 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 18 20 40 0 ENST00000602142.1:c.827G>A p.Arg276Lys p.R276K ENST00000602142 NM_005428.3 276 aGg/aAg 0 -VAV2 UCSF GRCh37 9 136648680 136648680 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 27 50 0 ENST00000371850.3:c.1668G>A p.Lys556= p.K556= ENST00000371850 NM_001134398.1 556 aaG/aaA 0 -VAX2 UCSF GRCh37 2 71160028 71160028 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 27 29 59 0 ENST00000234392.2:c.567C>T p.Gly189= p.G189= ENST00000234392 NM_012476.2 189 ggC/ggT 0 -VCAM1 UCSF GRCh37 1 101194751 101194751 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 92 197 0 ENST00000294728.2:c.1017C>T p.Gly339= p.G339= ENST00000294728 NM_001078.3 339 ggC/ggT 0 -VCAN UCSF GRCh37 5 82817933 82817933 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 103 110 209 0 ENST00000265077.3:c.3808G>A p.Glu1270Lys p.E1270K ENST00000265077 NM_004385.4 1270 Gaa/Aaa 0 -VCAN UCSF GRCh37 5 82808139 82808139 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 31 33 56 0 ENST00000265077.3:c.966G>A p.Val322= p.V322= ENST00000265077 NM_004385.4 322 gtG/gtA 0 -VCAN UCSF GRCh37 5 82836478 82836478 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 70 58 160 0 ENST00000265077.3:c.7656G>A p.Lys2552= p.K2552= ENST00000265077 NM_004385.4 2552 aaG/aaA 0 -VCX UCSF GRCh37 X 7811579 7811579 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 166 24 326 0 ENST00000381059.3:c.143G>A p.Gly48Glu p.G48E ENST00000381059 NM_013452.2 48 gGg/gAg 0 -VEGFB UCSF GRCh37 11 64004961 64004961 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 25 23 39 0 ENST00000309422.2:c.480C>T p.Pro160= p.P160= ENST00000309422 NM_003377.4 160 ccC/ccT 0 -VGLL4 UCSF GRCh37 3 11606380 11606380 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 21 23 0 ENST00000430365.2:c.386C>T p.Ser129Phe p.S129F ENST00000430365 NM_001128219.1 129 tCc/tTc 0 -VHL UCSF GRCh37 3 10183713 10183713 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 12 5 13 0 ENST00000256474.2:c.182C>T p.Pro61Leu p.P61L ENST00000256474 NM_000551.3 61 cCc/cTc 0 -VIL1 UCSF GRCh37 2 219290394 219290394 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 51 47 100 0 ENST00000248444.5:c.207C>T p.Asp69= p.D69= ENST00000248444 NM_007127.2 69 gaC/gaT 0 -VOPP1 UCSF GRCh37 7 55588814 55588814 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 49 52 105 0 ENST00000285279.5:c.64G>A p.Ala22Thr p.A22T ENST00000285279 NM_030796.3 22 Gcc/Acc 0 -VPRBP UCSF GRCh37 3 51457206 51457206 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 117 191 0 ENST00000423656.1:c.1931G>A p.Arg644Lys p.R644K ENST00000423656 644 aGg/aAg 0 -VPS13A UCSF GRCh37 9 79897163 79897163 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 137 81 145 0 ENST00000360280.3:c.3091G>A p.Asp1031Asn p.D1031N ENST00000360280 NM_033305.2 1031 Gac/Aac 0 -VPS13B UCSF GRCh37 8 100887721 100887721 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 295 106 158 0 ENST00000358544.2:c.11896C>T p.His3966Tyr p.H3966Y ENST00000358544 NM_017890.4 3966 Cac/Tac 0 -VPS13B UCSF GRCh37 8 100880671 100880671 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 92 28 56 0 ENST00000358544.2:c.11445G>A p.Glu3815= p.E3815= ENST00000358544 NM_017890.4 3815 gaG/gaA 0 -VPS13C UCSF GRCh37 15 62223314 62223314 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 90 176 0 ENST00000261517.5:c.6013G>A p.Glu2005Lys p.E2005K ENST00000261517 NM_020821.2 2005 Gaa/Aaa 0 -VPS13C UCSF GRCh37 15 62302748 62302748 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 101 83 153 0 ENST00000261517.5:c.934G>A p.Glu312Lys p.E312K ENST00000261517 NM_020821.2 312 Gaa/Aaa 0 -VPS13D UCSF GRCh37 1 12336919 12336919 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 103 96 178 0 ENST00000358136.3:c.3274C>T p.Pro1092Ser p.P1092S ENST00000358136 NM_015378.2 1092 Cca/Tca 0 -VPS13D UCSF GRCh37 1 12364596 12364596 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 46 39 80 0 ENST00000358136.3:c.6250C>T p.Pro2084Ser p.P2084S ENST00000358136 NM_015378.2 2084 Ccc/Tcc 0 -VPS13D UCSF GRCh37 1 12343695 12343695 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 97 67 144 0 ENST00000358136.3:c.5536C>T p.Leu1846= p.L1846= ENST00000358136 NM_015378.2 1846 Ctg/Ttg 0 -VPS18 UCSF GRCh37 15 41192761 41192761 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 135 92 98 0 ENST00000220509.5:c.1745C>T p.Ala582Val p.A582V ENST00000220509 NM_020857.2 582 gCc/gTc 0 -VPS33A UCSF GRCh37 12 122735630 122735630 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 56 38 99 0 ENST00000267199.4:c.500G>A p.Gly167Asp p.G167D ENST00000267199 NM_022916.4 167 gGt/gAt 0 -VPS33B UCSF GRCh37 15 91548327 91548327 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 49 100 0 ENST00000333371.3:c.1128C>T p.Ile376= p.I376= ENST00000333371 NM_018668.3 376 atC/atT 0 -VPS35 UCSF GRCh37 16 46695702 46695702 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 107 91 148 0 ENST00000299138.7:c.2139C>T p.Pro713= p.P713= ENST00000299138 NM_018206.4 713 ccC/ccT 0 -VTI1B UCSF GRCh37 14 68120170 68120170 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.00092 P10_Rec Untested WXS Illumina HiSeq 42 33 76 0 ENST00000554659.1:c.586C>T p.Arg196Cys p.R196C ENST00000554659 NM_006370.2 196 Cgt/Tgt 0 -VWA5A UCSF GRCh37 11 123989046 123989046 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 67 130 0 ENST00000456829.2:c.397C>T p.Leu133= p.L133= ENST00000456829 NM_001130142.1 133 Ctg/Ttg 0 -VWA5B2 UCSF GRCh37 3 183955045 183955045 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 41 46 81 0 ENST00000426955.2:c.1565C>T p.Pro522Leu p.P522L ENST00000426955 NM_138345.1 522 cCt/cTt 0 -VWCE UCSF GRCh37 11 61048580 61048580 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 21 14 26 0 ENST00000335613.5:c.915G>A p.Gly305= p.G305= ENST00000335613 NM_152718.2 305 ggG/ggA 0 -VWDE UCSF GRCh37 7 12381735 12381735 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 27 66 0 ENST00000275358.3:c.4220C>T p.Pro1407Leu p.P1407L ENST00000275358 NM_001135924.1 1407 cCa/cTa 0 -VWDE UCSF GRCh37 7 12428924 12428924 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 58 58 112 0 ENST00000275358.3:c.304C>T p.Pro102Ser p.P102S ENST00000275358 NM_001135924.1 102 Cca/Tca 0 -VWDE UCSF GRCh37 7 12410335 12410335 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 45 143 0 ENST00000275358.3:c.1743G>A p.Gly581= p.G581= ENST00000275358 NM_001135924.1 581 ggG/ggA 0 -VWF UCSF GRCh37 12 6125351 6125351 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 75 50 151 0 ENST00000261405.5:c.5359G>A p.Gly1787Ser p.G1787S ENST00000261405 NM_000552.3 1787 Ggt/Agt 0 -VWF UCSF GRCh37 12 6101071 6101071 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 43 46 79 0 ENST00000261405.5:c.6712C>T p.Pro2238Ser p.P2238S ENST00000261405 NM_000552.3 2238 Cct/Tct 0 -WAPAL UCSF GRCh37 10 88206137 88206137 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 87 74 139 0 ENST00000298767.5:c.3184C>T p.Pro1062Ser p.P1062S ENST00000298767 NM_015045.2 1062 Ccc/Tcc 0 -WARS UCSF GRCh37 14 100820200 100820200 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 56 54 83 0 ENST00000355338.2:c.549C>T p.Leu183= p.L183= ENST00000355338 NM_173701.1 183 ctC/ctT 0 -WASL UCSF GRCh37 7 123332789 123332789 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 50 65 79 0 ENST00000223023.4:c.959C>T p.Ala320Val p.A320V ENST00000223023 NM_003941.3 320 gCt/gTt 0 -WBSCR27 UCSF GRCh37 7 73256395 73256395 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 30 30 49 1 ENST00000297873.4:c.76G>A p.Ala26Thr p.A26T ENST00000297873 NM_152559.2 26 Gcc/Acc 0 -WDFY4 UCSF GRCh37 10 50184901 50184901 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 36 23 39 0 ENST00000325239.5:c.9168C>T p.Pro3056= p.P3056= ENST00000325239 NM_020945.1 3056 ccC/ccT 0 -WDR1 UCSF GRCh37 4 10086084 10086084 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 76 87 146 0 ENST00000499869.2:c.1022G>A p.Ser341Asn p.S341N ENST00000499869 341 aGc/aAc 0 -WDR1 UCSF GRCh37 4 10084717 10084717 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 50 45 80 0 ENST00000499869.2:c.1125G>A p.Glu375= p.E375= ENST00000499869 375 gaG/gaA 0 -WDR19 UCSF GRCh37 4 39217716 39217716 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 131 133 206 0 ENST00000399820.3:c.1135G>A p.Glu379Lys p.E379K ENST00000399820 NM_025132.3 379 Gag/Aag 0 -WDR41 UCSF GRCh37 5 76754933 76754933 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 85 89 162 0 ENST00000296679.4:c.365C>T p.Thr122Ile p.T122I ENST00000296679 NM_018268.2 122 aCt/aTt 0 -WDR52 UCSF GRCh37 3 113022845 113022845 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 91 206 0 ENST00000393845.2:c.4995G>A p.Lys1665= p.K1665= ENST00000393845 NM_001164496.1 1665 aaG/aaA 0 -WDR60 UCSF GRCh37 7 158672454 158672454 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 68 180 0 ENST00000407559.3:c.653C>T p.Pro218Leu p.P218L ENST00000407559 NM_018051.4 218 cCc/cTc 0 -WDR64 UCSF GRCh37 1 241842826 241842826 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 117 107 213 0 ENST00000366552.2:c.523C>T p.Leu175= p.L175= ENST00000366552 NM_144625.4 175 Ctg/Ttg 0 -WDR64 UCSF GRCh37 1 241901791 241901791 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 42 106 0 ENST00000366552.2:c.1291G>A p.Gly431Arg p.G431R ENST00000366552 NM_144625.4 431 Gga/Aga 0 -WDR67 UCSF GRCh37 8 124109547 124109547 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 249 71 176 0 ENST00000287380.1:c.697G>A p.Gly233Ser p.G233S ENST00000287380 NM_145647.3 233 Ggc/Agc 0 -WDR78 UCSF GRCh37 1 67293571 67293571 + missense_variant Missense_Mutation SNP C C T snp132_rs78356162 P10_Rec Untested WXS Illumina HiSeq 100 56 222 0 ENST00000371026.3:c.2036G>A p.Gly679Asp p.G679D ENST00000371026 NM_024763.4 679 gGc/gAc 0 -WDR87 UCSF GRCh37 19 38375629 38375629 + synonymous_variant Silent SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 76 51 144 0 ENST00000303868.5:c.8565T>C p.Pro2855= p.P2855= ENST00000303868 NM_031951.3 2855 ccT/ccC 0 -WDR90 UCSF GRCh37 16 708958 708958 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 70 70 90 0 ENST00000293879.4:c.2958C>T p.Val986= p.V986= ENST00000293879 986 gtC/gtT 0 -WDR93 UCSF GRCh37 15 90280885 90280885 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 72 64 145 0 ENST00000268130.7:c.1690G>A p.Gly564Arg p.G564R ENST00000268130 NM_020212.1 564 Gga/Aga 0 -WDYHV1 UCSF GRCh37 8 124453573 124453573 + missense_variant Missense_Mutation SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 70 24 45 0 ENST00000287387.2:c.536T>C p.Ile179Thr p.I179T ENST00000287387 NM_018024.1 179 aTc/aCc 0 -WFDC8 UCSF GRCh37 20 44190858 44190858 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 40 47 92 0 ENST00000357199.4:c.27G>A p.Gly9= p.G9= ENST00000357199 NM_181510.2 9 ggG/ggA 0 -WFS1 UCSF GRCh37 4 6303446 6303446 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 75 147 0 ENST00000226760.1:c.1924G>A p.Ala642Thr p.A642T ENST00000226760 NM_001145853.1 642 Gcc/Acc 0 -WHSC2 UCSF GRCh37 4 1993350 1993350 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 90 69 152 0 ENST00000382882.3:c.336G>A p.Pro112= p.P112= ENST00000382882 112 ccG/ccA 0 -WIPF3 UCSF GRCh37 7 29874428 29874428 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 31 31 64 0 ENST00000409290.1:c.88C>T p.Pro30Ser p.P30S ENST00000409290 NM_001080529.2 30 Ccg/Tcg 0 -WIPI1 UCSF GRCh37 17 66426297 66426297 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 60 95 0 ENST00000262139.5:c.805C>T p.Pro269Ser p.P269S ENST00000262139 NM_017983.5 269 Cca/Tca 0 -WISP2 UCSF GRCh37 20 43348583 43348583 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 23 17 30 0 ENST00000372868.2:c.106C>T p.Pro36Ser p.P36S ENST00000372868 36 Cct/Tct 0 -WISP3 UCSF GRCh37 6 112386099 112386099 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 123 100 212 0 ENST00000361714.1:c.542G>A p.Ser181Asn p.S181N ENST00000361714 181 aGt/aAt 0 -WIZ UCSF GRCh37 19 15558993 15558993 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 69 61 114 0 ENST00000263381.7:c.126C>T p.Gly42= p.G42= ENST00000263381 NM_021241.2 42 ggC/ggT 0 -WNK4 UCSF GRCh37 17 40939296 40939296 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 32 33 66 0 ENST00000246914.5:c.1477G>A p.Val493Met p.V493M ENST00000246914 NM_032387.4 493 Gtg/Atg 0 -WWOX UCSF GRCh37 16 78148914 78148914 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 100 68 179 0 ENST00000566780.1:c.272C>T p.Ala91Val p.A91V ENST00000566780 NM_016373.2 91 gCg/gTg 0 -XCL2 UCSF GRCh37 1 168510241 168510241 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 49 155 0 ENST00000367819.2:c.294G>A p.Lys98= p.K98= ENST00000367819 NM_003175.3 98 aaG/aaA 0 -XIRP1 UCSF GRCh37 3 39225432 39225432 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 1 27 39 0 ENST00000340369.3:c.5505C>T p.Cys1835= p.C1835= ENST00000340369 NM_194293.2 1835 tgC/tgT 0 -XIRP2 UCSF GRCh37 2 168104383 168104383 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 88 64 159 0 ENST00000409195.1:c.6481C>T p.Pro2161Ser p.P2161S ENST00000409195 NM_152381.5 2161 Ccc/Tcc 0 -XIRP2 UCSF GRCh37 2 168106448 168106448 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 120 84 201 0 ENST00000409195.1:c.8546C>T p.Ala2849Val p.A2849V ENST00000409195 NM_152381.5 2849 gCa/gTa 0 -XKR6 UCSF GRCh37 8 10755681 10755681 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 49 100 0 ENST00000416569.2:c.1707G>A p.Gly569= p.G569= ENST00000416569 NM_173683.3 569 ggG/ggA 0 -XPO6 UCSF GRCh37 16 28133067 28133067 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 47 66 99 0 ENST00000304658.5:c.1783C>T p.Leu595= p.L595= ENST00000304658 NM_015171.3 595 Ctg/Ttg 0 -XPO6 UCSF GRCh37 16 28187408 28187408 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 61 52 107 0 ENST00000304658.5:c.216C>T p.Ile72= p.I72= ENST00000304658 NM_015171.3 72 atC/atT 0 -XPO7 UCSF GRCh37 8 21840150 21840150 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 90 173 0 ENST00000252512.9:c.1105-1G>A p.X369_splice ENST00000252512 NM_015024.4 0 -XRCC5 UCSF GRCh37 2 217024854 217024854 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 82 57 128 0 ENST00000392133.3:c.1734C>T p.Val578= p.V578= ENST00000392133 578 gtC/gtT 0 -XRN2 UCSF GRCh37 20 21306968 21306968 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 67 69 125 0 ENST00000377191.3:c.127C>T p.Pro43Ser p.P43S ENST00000377191 NM_012255.3 43 Cca/Tca 0 -YEATS2 UCSF GRCh37 3 183524881 183524881 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 29 29 78 0 ENST00000305135.5:c.4011+1G>A p.X1337_splice ENST00000305135 NM_018023.4 0 -YIPF1 UCSF GRCh37 1 54332585 54332585 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 51 124 0 ENST00000072644.1:c.494C>T p.Ala165Val p.A165V ENST00000072644 NM_018982.4 165 gCt/gTt 0 -YIPF7 UCSF GRCh37 4 44626798 44626798 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 35 28 48 0 ENST00000332990.5:c.500C>T p.Ala167Val p.A167V ENST00000332990 NM_182592.2 167 gCa/gTa 0 -YLPM1 UCSF GRCh37 14 75248373 75248373 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 93 58 126 0 ENST00000325680.7:c.1627C>T p.Pro543Ser p.P543S ENST00000325680 NM_019589.2 543 Cca/Tca 0 -YTHDC2 UCSF GRCh37 5 112868676 112868676 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 61 147 0 ENST00000161863.4:c.776G>A p.Arg259Lys p.R259K ENST00000161863 NM_022828.3 259 aGa/aAa 0 -YTHDF1 UCSF GRCh37 20 61834707 61834707 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.014,1000g2011may_all_0.0485,snp132_rs115419512 P10_Rec Untested WXS Illumina HiSeq 51 52 75 0 ENST00000370339.3:c.585C>T p.Val195= p.V195= ENST00000370339 NM_017798.3 195 gtC/gtT 0 -YTHDF2 UCSF GRCh37 1 29069104 29069104 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 107 130 199 0 ENST00000373812.3:c.322C>T p.Pro108Ser p.P108S ENST00000373812 NM_016258.2 108 Cca/Tca 0 -ZBBX UCSF GRCh37 3 167086299 167086299 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 63 146 0 ENST00000455345.2:c.132G>A p.Lys44= p.K44= ENST00000455345 44 aaG/aaA 0 -ZBED4 UCSF GRCh37 22 50278966 50278966 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 12 124 193 0 ENST00000216268.5:c.1656G>A p.Met552Ile p.M552I ENST00000216268 NM_014838.2 552 atG/atA 0 -ZBTB44 UCSF GRCh37 11 130131626 130131626 + missense_variant Missense_Mutation SNP A A G NOVEL P10_Rec Untested WXS Illumina HiSeq 129 93 206 0 ENST00000525842.1:c.143T>C p.Val48Ala p.V48A ENST00000525842 NM_014155.4 48 gTa/gCa 0 -ZC3H11A UCSF GRCh37 1 203819029 203819029 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 78 70 146 0 ENST00000545588.1:c.1814C>T p.Thr605Ile p.T605I ENST00000545588 NM_001271675.1 605 aCa/aTa 0 -ZC3H12B UCSF GRCh37 X 64721891 64721891 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 78 150 0 ENST00000338957.4:c.1313C>T p.Pro438Leu p.P438L ENST00000338957 NM_001010888.3 438 cCc/cTc 0 -ZC3H12D UCSF GRCh37 6 149795470 149795470 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 19 18 65 0 ENST00000409806.3:c.210C>T p.Ala70= p.A70= ENST00000409806 70 gcC/gcT 0 -ZC3H18 UCSF GRCh37 16 88666340 88666340 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 78 60 118 0 ENST00000301011.5:c.1072G>A p.Asp358Asn p.D358N ENST00000301011 NM_144604.3 358 Gat/Aat 0 -ZC3H4 UCSF GRCh37 19 47570075 47570075 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 14 7 21 0 ENST00000253048.5:c.3450C>T p.Asp1150= p.D1150= ENST00000253048 NM_015168.1 1150 gaC/gaT 0 -ZCCHC17 UCSF GRCh37 1 31819541 31819541 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 64 53 119 0 ENST00000373714.1:c.372C>T p.Thr124= p.T124= ENST00000373714 NM_001282570.1 124 acC/acT 0 -ZCCHC4 UCSF GRCh37 4 25334924 25334924 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 60 156 0 ENST00000302874.4:c.449C>T p.Ser150Phe p.S150F ENST00000302874 NM_024936.2 150 tCc/tTc 0 -ZCCHC7 UCSF GRCh37 9 37357113 37357113 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 115 58 152 0 ENST00000336755.5:c.1480C>T p.Pro494Ser p.P494S ENST00000336755 NM_032226.2 494 Ccc/Tcc 0 -ZDBF2 UCSF GRCh37 2 207172904 207172904 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 143 118 242 0 ENST00000374423.3:c.3652G>A p.Val1218Ile p.V1218I ENST00000374423 NM_020923.1 1218 Gtt/Att 0 -ZDBF2 UCSF GRCh37 2 207146624 207146624 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 81 64 140 0 ENST00000374423.3:c.51C>T p.Asn17= p.N17= ENST00000374423 NM_020923.1 17 aaC/aaT 0 -ZDHHC11 UCSF GRCh37 5 837480 837480 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 245 85 294 0 ENST00000283441.8:c.900G>A p.Gln300= p.Q300= ENST00000283441 NM_024786.2 300 caG/caA 0 -ZDHHC18 UCSF GRCh37 1 27177632 27177632 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 47 122 0 ENST00000374142.4:c.846G>A p.Leu282= p.L282= ENST00000374142 NM_032283.2 282 ttG/ttA 0 -ZEB1 UCSF GRCh37 10 31810044 31810044 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 129 73 138 0 ENST00000361642.5:c.1784C>T p.Ser595Phe p.S595F ENST00000361642 NM_001174093.1 595 tCt/tTt 0 -ZEB1 UCSF GRCh37 10 31809528 31809528 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 168 69 127 0 ENST00000361642.5:c.1268G>A p.Gly423Asp p.G423D ENST00000361642 NM_001174093.1 423 gGt/gAt 0 -ZFAT UCSF GRCh37 8 135602547 135602547 + stop_gained Nonsense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 338 87 166 0 ENST00000377838.3:c.2527C>T p.Arg843Ter p.R843* ENST00000377838 NM_020863.3 843 Cga/Tga 0 -ZFHX3 UCSF GRCh37 16 72821844 72821844 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 60 65 114 0 ENST00000268489.5:c.10331C>T p.Ala3444Val p.A3444V ENST00000268489 NM_006885.3 3444 gCa/gTa 0 -ZFHX3 UCSF GRCh37 16 72822098 72822098 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 28 33 57 0 ENST00000268489.5:c.10077C>T p.Ser3359= p.S3359= ENST00000268489 NM_006885.3 3359 tcC/tcT 0 -ZFP106 UCSF GRCh37 15 42742112 42742112 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 110 114 191 0 ENST00000263805.4:c.2289C>T p.His763= p.H763= ENST00000263805 NM_022473.1 763 caC/caT 0 -ZFP112 UCSF GRCh37 19 44833062 44833062 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 96 103 180 0 ENST00000337401.4:c.1266G>A p.Lys422= p.K422= ENST00000337401 NM_001083335.1 422 aaG/aaA 0 -ZFP37 UCSF GRCh37 9 115805440 115805440 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 138 68 163 0 ENST00000374227.3:c.1458G>A p.Glu486= p.E486= ENST00000374227 486 gaG/gaA 0 -ZFP64 UCSF GRCh37 20 50701786 50701786 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 37 23 59 0 ENST00000361387.2:c.1248C>T p.Cys416= p.C416= ENST00000361387 NM_199427.2 416 tgC/tgT 0 -ZFR2 UCSF GRCh37 19 3819067 3819067 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 9 10 32 0 ENST00000262961.4:c.1907G>A p.Arg636Gln p.R636Q ENST00000262961 NM_015174.1 636 cGa/cAa 0 -ZFR2 UCSF GRCh37 19 3819223 3819223 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 11 6 26 0 ENST00000262961.4:c.1751G>A p.Arg584Gln p.R584Q ENST00000262961 NM_015174.1 584 cGg/cAg 0 -ZFYVE1 UCSF GRCh37 14 73437702 73437702 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 53 56 103 1 ENST00000556143.1:c.2222G>A p.Gly741Glu p.G741E ENST00000556143 NM_021260.2 741 gGa/gAa 0 -ZFYVE1 UCSF GRCh37 14 73490913 73490913 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 96 208 0 ENST00000556143.1:c.304G>A p.Glu102Lys p.E102K ENST00000556143 NM_021260.2 102 Gag/Aag 0 -ZMYM1 UCSF GRCh37 1 35559671 35559671 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 62 39 138 0 ENST00000373330.1:c.83C>T p.Pro28Leu p.P28L ENST00000373330 28 cCc/cTc 0 -ZMYND11 UCSF GRCh37 10 255829 255829 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 191 69 167 0 ENST00000397962.3:c.117G>A p.Lys39= p.K39= ENST00000397962 39 aaG/aaA 0 -ZNF131 UCSF GRCh37 5 43139398 43139398 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 95 86 177 0 ENST00000509634.1:c.358G>A p.Ala120Thr p.A120T ENST00000509634 120 Gcc/Acc 0 -ZNF142 UCSF GRCh37 2 219513823 219513823 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 47 48 88 0 ENST00000411696.2:c.808G>A p.Glu270Lys p.E270K ENST00000411696 270 Gag/Aag 0 -ZNF16 UCSF GRCh37 8 146157636 146157636 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 389 101 194 0 ENST00000276816.4:c.537G>A p.Arg179= p.R179= ENST00000276816 NM_001029976.2 179 agG/agA 0 -ZNF165 UCSF GRCh37 6 28056718 28056718 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 55 43 119 0 ENST00000377325.1:c.928C>T p.His310Tyr p.H310Y ENST00000377325 NM_003447.3 310 Cat/Tat 0 -ZNF184 UCSF GRCh37 6 27420104 27420104 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 65 62 173 0 ENST00000211936.6:c.1234C>T p.His412Tyr p.H412Y ENST00000211936 NM_007149.2 412 Cat/Tat 0 -ZNF187 UCSF GRCh37 6 28244609 28244609 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 93 225 0 ENST00000421553.2:n.1443C>T *481* ENST00000421553 0 -ZNF224 UCSF GRCh37 19 44611321 44611321 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0011 P10_Rec Untested WXS Illumina HiSeq 164 136 255 0 ENST00000336976.6:c.1008G>A p.Met336Ile p.M336I ENST00000336976 NM_013398.2 336 atG/atA 0 -ZNF259 UCSF GRCh37 11 116650508 116650508 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 49 146 0 ENST00000227322.3:c.1225G>A p.Ala409Thr p.A409T ENST00000227322 NM_003904.3 409 Gca/Aca 0 -ZNF280C UCSF GRCh37 X 129339294 129339294 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 73 155 1 ENST00000370978.4:c.2138C>T p.Thr713Ile p.T713I ENST00000370978 NM_017666.4 713 aCt/aTt 0 -ZNF281 UCSF GRCh37 1 200377972 200377972 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 131 134 191 0 ENST00000294740.3:c.862C>T p.Pro288Ser p.P288S ENST00000294740 NM_001281293.1 288 Cct/Tct 0 -ZNF282 UCSF GRCh37 7 148907734 148907734 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 12 13 28 0 ENST00000262085.3:c.890C>T p.Thr297Ile p.T297I ENST00000262085 NM_003575.2 297 aCc/aTc 0 -ZNF3 UCSF GRCh37 7 99669573 99669573 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 124 103 206 0 ENST00000303915.6:c.534G>A p.Gly178= p.G178= ENST00000303915 178 ggG/ggA 0 -ZNF300 UCSF GRCh37 5 150275333 150275333 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 84 58 154 0 ENST00000446148.2:c.1516G>A p.Glu506Lys p.E506K ENST00000446148 NM_001172831.1 506 Gaa/Aaa 0 -ZNF317 UCSF GRCh37 19 9269574 9269574 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 45 37 96 0 ENST00000247956.6:c.458G>A p.Gly153Asp p.G153D ENST00000247956 NM_020933.4 153 gGt/gAt 0 -ZNF324B UCSF GRCh37 19 58966831 58966831 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 49 91 0 ENST00000336614.4:c.520C>T p.Pro174Ser p.P174S ENST00000336614 NM_207395.2 174 Ccc/Tcc 0 -ZNF385A UCSF GRCh37 12 54764711 54764711 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 59 64 117 0 ENST00000338010.5:c.834G>A p.Gln278= p.Q278= ENST00000338010 NM_001130967.1 278 caG/caA 0 -ZNF410 UCSF GRCh37 14 74388848 74388848 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 63 64 116 0 ENST00000442160.3:c.1260C>T p.Pro420= p.P420= ENST00000442160 NM_001242924.1 420 ccC/ccT 0 -ZNF415 UCSF GRCh37 19 53619578 53619578 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 148 116 251 0 ENST00000500065.4:c.124C>T p.Leu42= p.L42= ENST00000500065 NM_001136038.2 42 Ctg/Ttg 0 -ZNF423 UCSF GRCh37 16 49669888 49669888 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 24 24 56 0 ENST00000561648.1:c.3175G>A p.Gly1059Arg p.G1059R ENST00000561648 NM_015069.3 1059 Ggg/Agg 0 -ZNF425 UCSF GRCh37 7 148815372 148815372 + stop_gained Nonsense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 121 177 0 ENST00000378061.2:c.87G>A p.Trp29Ter p.W29* ENST00000378061 NM_001001661.2 29 tgG/tgA 0 -ZNF429 UCSF GRCh37 19 21719844 21719844 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 94 106 213 0 ENST00000358491.4:c.989G>A p.Ser330Asn p.S330N ENST00000358491 NM_001001415.2 330 aGc/aAc 0 -ZNF43 UCSF GRCh37 19 21990809 21990809 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 129 104 208 0 ENST00000354959.4:c.2030C>T p.Pro677Leu p.P677L ENST00000354959 NM_003423.3 677 cCc/cTc 0 -ZNF432 UCSF GRCh37 19 52537701 52537701 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 112 99 235 0 ENST00000594154.1:c.1231C>T p.Pro411Ser p.P411S ENST00000594154 411 Ccc/Tcc 0 -ZNF445 UCSF GRCh37 3 44489299 44489299 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 4 106 185 0 ENST00000425708.2:c.1864G>A p.Glu622Lys p.E622K ENST00000425708 622 Gag/Aag 0 -ZNF449 UCSF GRCh37 X 134481311 134481311 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 97 64 176 0 ENST00000339249.4:c.268G>A p.Val90Met p.V90M ENST00000339249 NM_152695.5 90 Gtg/Atg 0 -ZNF460 UCSF GRCh37 19 57795929 57795929 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 66 195 0 ENST00000360338.3:c.41C>T p.Thr14Ile p.T14I ENST00000360338 NM_006635.3 14 aCc/aTc 0 -ZNF470 UCSF GRCh37 19 57089633 57089633 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 81 62 130 0 ENST00000330619.8:c.1836G>A p.Gln612= p.Q612= ENST00000330619 NM_001001668.3 612 caG/caA 0 -ZNF483 UCSF GRCh37 9 114304687 114304687 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 144 57 129 0 ENST00000309235.5:c.1472G>A p.Gly491Glu p.G491E ENST00000309235 NM_133464.2 491 gGa/gAa 0 -ZNF484 UCSF GRCh37 9 95610568 95610568 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 240 111 209 0 ENST00000395506.3:c.507C>T p.His169= p.H169= ENST00000395506 169 caC/caT 0 -ZNF516 UCSF GRCh37 18 74091782 74091782 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 41 39 65 1 ENST00000443185.2:c.2288C>T p.Pro763Leu p.P763L ENST00000443185 NM_014643.3 763 cCt/cTt 0 -ZNF527 UCSF GRCh37 19 37880574 37880574 + synonymous_variant Silent SNP T T C NOVEL P10_Rec Untested WXS Illumina HiSeq 71 79 132 0 ENST00000436120.2:c.1623T>C p.Leu541= p.L541= ENST00000436120 NM_032453.1 541 ctT/ctC 0 -ZNF541 UCSF GRCh37 19 48058965 48058965 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec somatic WXS Sanger Illumina HiSeq 38 49 79 0 ENST00000314121.4:c.149G>A p.Ser50Asn p.S50N ENST00000314121 50 aGt/aAt 0 -ZNF543 UCSF GRCh37 19 57839758 57839758 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 109 77 205 0 ENST00000321545.4:c.928C>T p.Pro310Ser p.P310S ENST00000321545 NM_213598.3 310 Ccc/Tcc 0 -ZNF543 UCSF GRCh37 19 57840242 57840242 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 108 95 154 0 ENST00000321545.4:c.1412G>A p.Ser471Asn p.S471N ENST00000321545 NM_213598.3 471 aGc/aAc 0 -ZNF547 UCSF GRCh37 19 57888578 57888578 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 79 61 154 0 ENST00000282282.3:c.234G>A p.Lys78= p.K78= ENST00000282282 NM_173631.2 78 aaG/aaA 0 -ZNF554 UCSF GRCh37 19 2834661 2834661 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 80 86 145 0 ENST00000317243.5:c.1428G>A p.Arg476= p.R476= ENST00000317243 NM_001102651.1 476 agG/agA 0 -ZNF578 UCSF GRCh37 19 53014224 53014224 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 144 102 234 0 ENST00000421239.2:c.590C>T p.Ser197Phe p.S197F ENST00000421239 NM_001099694.1 197 tCt/tTt 0 -ZNF582 UCSF GRCh37 19 56895688 56895688 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 89 82 204 0 ENST00000301310.4:c.1098C>T p.Pro366= p.P366= ENST00000301310 NM_144690.1 366 ccC/ccT 0 -ZNF585A UCSF GRCh37 19 37643323 37643323 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 84 81 181 0 ENST00000292841.5:c.1313C>T p.Ser438Phe p.S438F ENST00000292841 NM_152655.2 438 tCt/tTt 0 -ZNF585B UCSF GRCh37 19 37677780 37677780 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 106 93 180 0 ENST00000532828.2:c.659G>A p.Gly220Glu p.G220E ENST00000532828 NM_152279.3 220 gGg/gAg 0 -ZNF592 UCSF GRCh37 15 85326624 85326624 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 113 84 177 0 ENST00000299927.3:c.718G>A p.Glu240Lys p.E240K ENST00000299927 240 Gaa/Aaa 0 -ZNF598 UCSF GRCh37 16 2049509 2049509 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 13 15 19 0 ENST00000431526.1:c.2041C>T p.Pro681Ser p.P681S ENST00000431526 681 Ccg/Tcg 0 -ZNF607 UCSF GRCh37 19 38189934 38189934 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 130 87 192 0 ENST00000355202.4:c.1098G>A p.Lys366= p.K366= ENST00000355202 NM_032689.4 366 aaG/aaA 0 -ZNF609 UCSF GRCh37 15 64973532 64973532 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 130 96 205 0 ENST00000326648.3:c.4187C>T p.Ala1396Val p.A1396V ENST00000326648 NM_015042.1 1396 gCc/gTc 0 -ZNF609 UCSF GRCh37 15 64967741 64967741 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 91 67 186 0 ENST00000326648.3:c.2688G>A p.Glu896= p.E896= ENST00000326648 NM_015042.1 896 gaG/gaA 0 -ZNF622 UCSF GRCh37 5 16465647 16465647 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 57 43 97 0 ENST00000308683.2:c.128C>T p.Thr43Ile p.T43I ENST00000308683 NM_033414.2 43 aCc/aTc 0 -ZNF623 UCSF GRCh37 8 144733633 144733633 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 264 60 116 0 ENST00000501748.2:c.1591G>A p.Glu531Lys p.E531K ENST00000501748 NM_014789.3 531 Gaa/Aaa 0 -ZNF623 UCSF GRCh37 8 144732450 144732450 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.309,1000g2011may_all_0.3611,snp132_rs3750204 P10_Rec Untested WXS Illumina HiSeq 352 85 183 0 ENST00000501748.2:c.408G>A p.Ser136= p.S136= ENST00000501748 NM_014789.3 136 tcG/tcA 0 -ZNF627 UCSF GRCh37 19 11727672 11727672 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 141 103 223 0 ENST00000361113.5:c.354G>A p.Arg118= p.R118= ENST00000361113 NM_145295.3 118 agG/agA 0 -ZNF639 UCSF GRCh37 3 179051833 179051833 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 118 116 206 0 ENST00000326361.3:c.1081C>T p.Leu361Phe p.L361F ENST00000326361 NM_016331.1 361 Ctc/Ttc 0 -ZNF645 UCSF GRCh37 X 22291520 22291520 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 99 89 183 0 ENST00000323684.1:c.412C>T p.His138Tyr p.H138Y ENST00000323684 NM_152577.3 138 Cat/Tat 0 -ZNF658 UCSF GRCh37 9 40773158 40773158 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 223 127 241 0 ENST00000602553.1:c.2117G>A p.Arg706Lys p.R706K ENST00000602553 706 aGa/aAa 0 -ZNF665 UCSF GRCh37 19 53668410 53668410 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 119 124 233 0 ENST00000396424.3:c.1333C>T p.Leu445= p.L445= ENST00000396424 NM_024733.3 445 Cta/Tta 0 -ZNF668 UCSF GRCh37 16 31075243 31075243 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 10 9 23 0 ENST00000539836.3:c.607C>T p.Pro203Ser p.P203S ENST00000539836 NM_001172669.1 203 Cct/Tct 0 -ZNF668 UCSF GRCh37 16 31075703 31075703 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 34 33 94 0 ENST00000539836.3:c.147C>T p.Ser49= p.S49= ENST00000539836 NM_001172669.1 49 tcC/tcT 0 -ZNF700 UCSF GRCh37 19 12060846 12060846 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 111 119 197 0 ENST00000254321.5:c.2007G>A p.Lys669= p.K669= ENST00000254321 NM_144566.2 669 aaG/aaA 0 -ZNF711 UCSF GRCh37 X 84526171 84526171 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 48 51 133 0 ENST00000373165.3:c.1623G>A p.Arg541= p.R541= ENST00000373165 NM_021998.4 541 agG/agA 0 -ZNF749 UCSF GRCh37 19 57953330 57953330 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 129 120 207 0 ENST00000334181.4:c.93C>T p.His31= p.H31= ENST00000334181 NM_001023561.2 31 caC/caT 0 -ZNF750 UCSF GRCh37 17 80789491 80789491 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 54 62 124 0 ENST00000269394.3:c.840C>T p.Asp280= p.D280= ENST00000269394 NM_024702.2 280 gaC/gaT 0 -ZNF76 UCSF GRCh37 6 35255438 35255438 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 46 51 113 0 ENST00000373953.3:c.248G>A p.Ser83Asn p.S83N ENST00000373953 NM_003427.3 83 aGc/aAc 0 -ZNF761 UCSF GRCh37 19 53958841 53958841 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 149 128 221 0 ENST00000454407.1:n.1533C>T *511* ENST00000454407 0 -ZNF764 UCSF GRCh37 16 30569472 30569472 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 6 15 23 0 ENST00000252797.2:c.32G>A p.Arg11Gln p.R11Q ENST00000252797 NM_033410.3 11 cGg/cAg 0 -ZNF766 UCSF GRCh37 19 52793879 52793879 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 93 93 195 0 ENST00000439461.1:c.835G>A p.Val279Ile p.V279I ENST00000439461 NM_001010851.2 279 Gtc/Atc 0 -ZNF770 UCSF GRCh37 15 35273889 35273889 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 112 101 221 0 ENST00000356321.4:c.1747G>A p.Glu583Lys p.E583K ENST00000356321 NM_014106.3 583 Gag/Aag 0 -ZNF770 UCSF GRCh37 15 35274604 35274604 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 43 28 94 0 ENST00000356321.4:c.1032G>A p.Lys344= p.K344= ENST00000356321 NM_014106.3 344 aaG/aaA 0 -ZNF777 UCSF GRCh37 7 149129924 149129924 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 22 21 26 0 ENST00000247930.4:c.1439G>A p.Gly480Glu p.G480E ENST00000247930 NM_015694.2 480 gGg/gAg 0 -ZNF777 UCSF GRCh37 7 149153033 149153033 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 51 61 128 0 ENST00000247930.4:c.81C>T p.Leu27= p.L27= ENST00000247930 NM_015694.2 27 ctC/ctT 0 -ZNF804A UCSF GRCh37 2 185803266 185803266 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 108 103 190 0 ENST00000302277.6:c.3143C>T p.Pro1048Leu p.P1048L ENST00000302277 NM_194250.1 1048 cCa/cTa 0 -ZNF804A UCSF GRCh37 2 185802611 185802611 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 88 204 0 ENST00000302277.6:c.2488G>A p.Glu830Lys p.E830K ENST00000302277 NM_194250.1 830 Gaa/Aaa 0 -ZNF808 UCSF GRCh37 19 53057091 53057091 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 158 133 271 0 ENST00000359798.4:c.922C>T p.Leu308Phe p.L308F ENST00000359798 NM_001039886.3 308 Ctt/Ttt 0 -ZNF812 UCSF GRCh37 19 9801409 9801409 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 61 194 0 ENST00000457674.2:c.770C>T p.Ser257Phe p.S257F ENST00000457674 NM_001199814.1 257 tCc/tTc 0 -ZNF814 UCSF GRCh37 19 58384320 58384320 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 125 109 223 0 ENST00000435989.2:c.2438C>T p.Ser813Phe p.S813F ENST00000435989 NM_001144989.1 813 tCc/tTc 0 -ZNF814 UCSF GRCh37 19 58386317 58386317 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 104 83 254 0 ENST00000435989.2:c.441C>T p.Pro147= p.P147= ENST00000435989 NM_001144989.1 147 ccC/ccT 0 -ZNF828 UCSF GRCh37 13 115090865 115090865 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 144 143 224 0 ENST00000361283.1:c.1548G>A p.Lys516= p.K516= ENST00000361283 NM_032436.2 516 aaG/aaA 0 -ZNF839 UCSF GRCh37 14 102807822 102807822 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 65 51 135 0 ENST00000442396.2:c.2090C>T p.Ser697Phe p.S697F ENST00000442396 697 tCc/tTc 0 -ZNF878 UCSF GRCh37 19 12155717 12155717 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 154 125 231 0 ENST00000547628.1:c.499G>A p.Ala167Thr p.A167T ENST00000547628 NM_001080404.2 167 Gca/Aca 0 -ZNHIT6 UCSF GRCh37 1 86173894 86173894 + missense_variant Missense_Mutation SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 66 64 146 0 ENST00000370574.3:c.74G>A p.Ser25Asn p.S25N ENST00000370574 25 aGt/aAt 0 -ZNRF3 UCSF GRCh37 22 29438558 29438558 + splice_donor_variant Splice_Site SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 44 37 68 0 ENST00000544604.2:c.501+1G>A p.X167_splice ENST00000544604 NM_001206998.1 0 -ZNRF3 UCSF GRCh37 22 29445444 29445444 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 37 47 67 0 ENST00000544604.2:c.1275C>T p.Asp425= p.D425= ENST00000544604 NM_001206998.1 425 gaC/gaT 0 -ZP2 UCSF GRCh37 16 21212793 21212793 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 90 79 158 0 ENST00000574002.1:c.1591C>T p.Leu531= p.L531= ENST00000574002 531 Cta/Tta 0 -ZP4 UCSF GRCh37 1 238053862 238053862 + missense_variant Missense_Mutation SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 68 53 119 0 ENST00000366570.4:c.74C>T p.Ala25Val p.A25V ENST00000366570 NM_021186.3 25 gCa/gTa 0 -ZSCAN20 UCSF GRCh37 1 33961067 33961067 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 52 43 90 0 ENST00000361328.3:c.3123G>A p.Lys1041= p.K1041= ENST00000361328 NM_145238.3 1041 aaG/aaA 0 -ZSCAN29 UCSF GRCh37 15 43654045 43654045 + synonymous_variant Silent SNP C C T NOVEL P10_Rec Untested WXS Illumina HiSeq 87 76 184 0 ENST00000396976.2:c.1785G>A p.Arg595= p.R595= ENST00000396976 NM_152455.3 595 agG/agA 0 -ZSWIM6 UCSF GRCh37 5 60839601 60839601 + synonymous_variant Silent SNP G G A NOVEL P10_Rec Untested WXS Illumina HiSeq 75 69 130 0 ENST00000252744.5:c.3105G>A p.Arg1035= p.R1035= ENST00000252744 NM_020928.1 1035 cgG/cgA 0 -ARID2 UCSF GRCh37 12 46242691 46242691 + synonymous_variant Silent SNP G G C NOVEL P11_Pri Untested WXS Illumina HiSeq 90 67 110 0 ENST00000334344.6:c.1653G>C p.Ser551= p.S551= ENST00000334344 NM_152641.2 551 tcG/tcC 0 -ATRX UCSF GRCh37 X 76938945 76938951 + frameshift_variant Frame_Shift_Del DEL TTTAATT TTTAATT - NOVEL P11_Pri Untested WXS Illumina HiSeq 88 0 ENST00000373344.5:c.1797_1803del p.Ile600ValfsTer19 p.I600Vfs*19 ENST00000373344 NM_000489.3 599 ccAATTAAA/cc 0 -CFTR UCSF GRCh37 7 117171029 117171029 + missense_variant Missense_Mutation SNP G G A snp132_rs78655421 P11_Pri Untested WXS Illumina HiSeq 49 39 82 0 ENST00000003084.6:c.350G>A p.Arg117His p.R117H ENST00000003084 NM_000492.3 117 cGc/cAc 0 -DDR1 UCSF GRCh37 6 30865364 30865364 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Pri Untested WXS Illumina HiSeq 33 17 42 0 ENST00000376575.3:c.2224C>T p.Pro742Ser p.P742S ENST00000376575 742 Ccc/Tcc 0 -DUX2 UCSF GRCh37 4 190989798 190989798 + non_coding_transcript_exon_variant RNA SNP G G C NOVEL P11_Pri Untested WXS Illumina HiSeq 14 4 26 1 ENST00000536428.1:n.1003G>C *335* ENST00000536428 0 -FLT4 UCSF GRCh37 5 180038348 180038348 + synonymous_variant Silent SNP G G A NOVEL P11_Pri Untested WXS Illumina HiSeq 55 25 60 0 ENST00000261937.6:c.3669C>T p.Arg1223= p.R1223= ENST00000261937 NM_182925.4 1223 cgC/cgT 0 -GOLGA1 UCSF GRCh37 9 127651492 127651492 + missense_variant Missense_Mutation SNP G G A NOVEL P11_Pri Untested WXS Illumina HiSeq 34 6 44 0 ENST00000373555.4:c.1691C>T p.Ala564Val p.A564V ENST00000373555 NM_002077.3 564 gCg/gTg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Pri Untested WXS Illumina HiSeq 97 70 123 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KIAA1958 UCSF GRCh37 9 115336728 115336728 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Pri Untested WXS Illumina HiSeq 81 70 148 0 ENST00000337530.6:c.368C>T p.Ser123Phe p.S123F ENST00000337530 NM_001287038.1 123 tCc/tTc 0 -KIAA2026 UCSF GRCh37 9 5920588 5920588 + missense_variant Missense_Mutation SNP G G T NOVEL P11_Pri Untested WXS Illumina HiSeq 193 40 352 0 ENST00000399933.3:c.5408C>A p.Thr1803Lys p.T1803K ENST00000399933 NM_001017969.2 1803 aCa/aAa 0 -MADCAM1 UCSF GRCh37 19 501701 501701 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.144,1000g2011may_all_0.1863,snp132_rs72970252 P11_Pri Untested WXS Illumina HiSeq 50 7 44 1 ENST00000215637.3:c.700G>A p.Asp234Asn p.D234N ENST00000215637 NM_130760.2 234 Gac/Aac 0 -MKI67 UCSF GRCh37 10 129904284 129904284 + synonymous_variant Silent SNP C C T NOVEL P11_Pri Untested WXS Illumina HiSeq 115 44 236 0 ENST00000368654.3:c.5820G>A p.Arg1940= p.R1940= ENST00000368654 NM_002417.4 1940 cgG/cgA 0 -MYO10 UCSF GRCh37 5 16711041 16711041 + synonymous_variant Silent SNP G G A NOVEL P11_Pri Untested WXS Illumina HiSeq 98 24 118 0 ENST00000513610.1:c.2145C>T p.Ser715= p.S715= ENST00000513610 NM_012334.2 715 agC/agT 0 -NYNRIN UCSF GRCh37 14 24878453 24878453 + missense_variant Missense_Mutation SNP T T C NOVEL P11_Pri Untested WXS Illumina HiSeq 61 27 87 0 ENST00000382554.3:c.1453T>C p.Ser485Pro p.S485P ENST00000382554 NM_025081.2 485 Tct/Cct 0 -PHKA2 UCSF GRCh37 X 18924630 18924630 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Pri Untested WXS Illumina HiSeq 25 26 78 0 ENST00000379942.4:c.2789G>A p.Arg930Gln p.R930Q ENST00000379942 NM_000292.2 930 cGg/cAg 0 -PKD1L1 UCSF GRCh37 7 47913571 47913571 + synonymous_variant Silent SNP G G A NOVEL P11_Pri Untested WXS Illumina HiSeq 31 29 45 0 ENST00000289672.2:c.3822C>T p.Ser1274= p.S1274= ENST00000289672 NM_138295.3 1274 tcC/tcT 0 -PLCH1 UCSF GRCh37 3 155200415 155200415 + missense_variant Missense_Mutation SNP T T C NOVEL P11_Pri Untested WXS Illumina HiSeq 104 15 107 0 ENST00000340059.7:c.3424A>G p.Arg1142Gly p.R1142G ENST00000340059 NM_001130960.1 1142 Agg/Ggg 0 -PTCRA UCSF GRCh37 6 42893351 42893351 + synonymous_variant Silent SNP T T G NOVEL P11_Pri Untested WXS Illumina HiSeq 12 15 27 0 ENST00000304672.1:c.777T>G p.Ala259= p.A259= ENST00000304672 NM_001243168.1 259 gcT/gcG 0 -RGS5 UCSF GRCh37 1 163138051 163138051 + missense_variant Missense_Mutation SNP T T A NOVEL P11_Pri Untested WXS Illumina HiSeq 105 34 171 0 ENST00000530507.1:c.152A>T p.Gln51Leu p.Q51L ENST00000530507 51 cAg/cTg 0 -SIDT2 UCSF GRCh37 11 117060735 117060735 + missense_variant Missense_Mutation SNP A A G NOVEL P11_Pri Untested WXS Illumina HiSeq 54 35 122 0 ENST00000324225.4:c.1487A>G p.Asn496Ser p.N496S ENST00000324225 NM_001040455.1 496 aAt/aGt 0 -SLAMF1 UCSF GRCh37 1 160589601 160589601 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P11_Pri Untested WXS Illumina HiSeq 6 0 ENST00000302035.6:c.829delA p.Ser277AlafsTer54 p.S277Afs*54 ENST00000302035 NM_003037.2 277 Agc/gc 0 -SLX4 UCSF GRCh37 16 3633500 3633500 + missense_variant Missense_Mutation SNP C C A NOVEL P11_Pri Untested WXS Illumina HiSeq 77 10 85 0 ENST00000294008.3:c.4751G>T p.Arg1584Leu p.R1584L ENST00000294008 NM_032444.2 1584 cGc/cTc 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P11_Pri Untested WXS Illumina HiSeq 11 71 50 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TXNDC3 UCSF GRCh37 7 37936603 37936603 + missense_variant Missense_Mutation SNP G G T NOVEL P11_Pri Untested WXS Illumina HiSeq 88 23 143 0 ENST00000199447.4:c.1676G>T p.Ser559Ile p.S559I ENST00000199447 NM_016616.4 559 aGt/aTt 0 -UNC5C UCSF GRCh37 4 96104084 96104084 + synonymous_variant Silent SNP T T C NOVEL P11_Pri Untested WXS Illumina HiSeq 91 62 153 0 ENST00000453304.1:c.2415A>G p.Glu805= p.E805= ENST00000453304 NM_003728.3 805 gaA/gaG 0 -WASH1 UCSF GRCh37 9 16967 16967 + splice_region_variant,non_coding_transcript_exon_variant Splice_Region SNP A A G 1000g2011may_all_0.2384,snp132_rs17857353 P11_Pri Untested WXS Illumina HiSeq 42 7 40 0 ENST00000442898.2:n.1024T>C p.X342_splice ENST00000442898 0 -ZNF483 UCSF GRCh37 9 114304413 114304413 + missense_variant Missense_Mutation SNP A A C NOVEL P11_Pri Untested WXS Illumina HiSeq 120 102 195 0 ENST00000309235.5:c.1198A>C p.Ile400Leu p.I400L ENST00000309235 NM_133464.2 400 Att/Ctt 0 -ALDH3B1 UCSF GRCh37 11 67795299 67795299 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.237,1000g2011may_all_0.3285,snp132_rs308341 P11_Rec Untested WXS Illumina HiSeq 5 11 8 0 ENST00000539229.1:c.1293G>A p.Pro431= p.P431= ENST00000539229 NM_001161473.1 431 ccG/ccA 0 -APOF UCSF GRCh37 12 56755364 56755364 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P11_Rec Untested WXS Illumina HiSeq 10 0 ENST00000398189.3:c.626del p.Lys209ArgfsTer11 p.K209Rfs*11 ENST00000398189 NM_001638.2 209 aAg/ag 0 -ARID2 UCSF GRCh37 12 46242691 46242691 + synonymous_variant Silent SNP G G C NOVEL P11_Rec Untested WXS Illumina HiSeq 75 42 110 0 ENST00000334344.6:c.1653G>C p.Ser551= p.S551= ENST00000334344 NM_152641.2 551 tcG/tcC 0 -ATRX UCSF GRCh37 X 76938945 76938951 + frameshift_variant Frame_Shift_Del DEL TTTAATT TTTAATT - NOVEL P11_Rec Untested WXS Illumina HiSeq 65 0 ENST00000373344.5:c.1797_1803del p.Ile600ValfsTer19 p.I600Vfs*19 ENST00000373344 NM_000489.3 599 ccAATTAAA/cc 0 -C7orf57 UCSF GRCh37 7 48080945 48080945 + missense_variant Missense_Mutation SNP G G A NOVEL P11_Rec Untested WXS Illumina HiSeq 102 15 115 1 ENST00000348904.3:c.70G>A p.Val24Ile p.V24I ENST00000348904 NM_001100159.2 24 Gtc/Atc 0 -CFTR UCSF GRCh37 7 117171029 117171029 + missense_variant Missense_Mutation SNP G G A snp132_rs78655421 P11_Rec Untested WXS Illumina HiSeq 62 26 82 0 ENST00000003084.6:c.350G>A p.Arg117His p.R117H ENST00000003084 NM_000492.3 117 cGc/cAc 0 -CLIP1 UCSF GRCh37 12 122758571 122758599 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TTCATATGAAATACCTGTCATAATTGTTT TTCATATGAAATACCTGTCATAATTGTTT - NOVEL P11_Rec Untested WXS Illumina HiSeq 6 0 ENST00000540338.1:c.4077_4091+14del p.X1359_splice ENST00000540338 1359 0 -CREG2 UCSF GRCh37 2 101971731 101971731 + missense_variant Missense_Mutation SNP G G T NOVEL P11_Rec Untested WXS Illumina HiSeq 72 12 52 1 ENST00000324768.5:c.709C>A p.Gln237Lys p.Q237K ENST00000324768 NM_153836.3 237 Caa/Aaa 0 -CROCC UCSF GRCh37 1 17272075 17272075 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.064,1000g2011may_all_0.0426,snp132_rs2781608 P11_Rec Untested WXS Illumina HiSeq 15 4 26 1 ENST00000375541.5:c.2110G>A p.Ala704Thr p.A704T ENST00000375541 NM_014675.3 704 Gcc/Acc 0 -CYP21A2 UCSF GRCh37 6 31975463 31975463 + non_coding_transcript_exon_variant RNA SNP T T C 1000g2011may_all_0.0497,snp132_rs7755898 P11_Rec Untested WXS Illumina HiSeq 18 4 12 0 ENST00000342991.6:n.1386T>C *462* ENST00000342991 0 -DDR1 UCSF GRCh37 6 30865364 30865364 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Rec Untested WXS Illumina HiSeq 39 28 42 0 ENST00000376575.3:c.2224C>T p.Pro742Ser p.P742S ENST00000376575 742 Ccc/Tcc 0 -DEFB126 UCSF GRCh37 20 126310 126311 + frameshift_variant Frame_Shift_Del DEL AC AC - NOVEL P11_Rec Untested WXS Illumina HiSeq 6 0 ENST00000382398.3:c.313_314del p.Thr105ProfsTer? p.T105Pfs*? ENST00000382398 NM_030931.3 105 ACc/c 0 -FLT4 UCSF GRCh37 5 180038348 180038348 + synonymous_variant Silent SNP G G A NOVEL P11_Rec Untested WXS Illumina HiSeq 51 22 60 0 ENST00000261937.6:c.3669C>T p.Arg1223= p.R1223= ENST00000261937 NM_182925.4 1223 cgC/cgT 0 -GGTLC1 UCSF GRCh37 20 23967157 23967157 + missense_variant Missense_Mutation SNP A A G NOVEL P11_Rec Untested WXS Illumina HiSeq 37 12 53 0 ENST00000335694.4:c.92T>C p.Met31Thr p.M31T ENST00000335694 NM_178311.2 31 aTg/aCg 0 -GNRH2 UCSF GRCh37 20 3026346 3026347 + frameshift_variant Frame_Shift_Ins INS - - GCCCC NOVEL P11_Rec Untested WXS Illumina HiSeq 6 0 ENST00000245983.2:c.327_328insGCCCC p.Pro110AlafsTer? p.P110Afs*? ENST00000245983 NM_001501.1 109 -/GCCCC 0 -GPRC5B UCSF GRCh37 16 19883854 19883854 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Rec Untested WXS Illumina HiSeq 50 8 46 0 ENST00000300571.2:c.314G>A p.Gly105Asp p.G105D ENST00000300571 NM_016235.1 105 gGc/gAc 0 -HLA-A UCSF GRCh37 6 29910572 29910572 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.067,1000g2011may_all_0.0966,snp132_rs114101108 P11_Rec Untested WXS Illumina HiSeq 26 5 38 0 ENST00000376809.5:c.112C>T p.Arg38Trp p.R38W ENST00000376809 NM_002116.7 38 Cgg/Tgg 0 -HLA-A UCSF GRCh37 6 29910558 29910558 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.473,1000g2011may_all_0.5687,snp132_rs112039894 P11_Rec Untested WXS Illumina HiSeq 19 4 37 1 ENST00000376809.5:c.98T>C p.Phe33Ser p.F33S ENST00000376809 NM_002116.7 33 tTc/tCc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Rec Untested WXS Illumina HiSeq 100 60 123 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KBTBD6 UCSF GRCh37 13 41704817 41704820 + frameshift_variant Frame_Shift_Del DEL AGTT AGTT - NOVEL P11_Rec Untested WXS Illumina HiSeq 7 0 ENST00000379485.1:c.1828_1831del p.Asn610PhefsTer36 p.N610Ffs*36 ENST00000379485 NM_152903.4 610 AACTtt/tt 0 -KIAA1958 UCSF GRCh37 9 115336728 115336728 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Rec Untested WXS Illumina HiSeq 92 60 148 0 ENST00000337530.6:c.368C>T p.Ser123Phe p.S123F ENST00000337530 NM_001287038.1 123 tCc/tTc 0 -KIAA2026 UCSF GRCh37 9 5920588 5920588 + missense_variant Missense_Mutation SNP G G T NOVEL P11_Rec Untested WXS Illumina HiSeq 231 37 352 0 ENST00000399933.3:c.5408C>A p.Thr1803Lys p.T1803K ENST00000399933 NM_001017969.2 1803 aCa/aAa 0 -MIS18BP1 UCSF GRCh37 14 45716019 45716020 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P11_Rec Untested WXS Illumina HiSeq 6 0 ENST00000310806.4:c.471dup p.Leu158IlefsTer8 p.L158Ifs*8 ENST00000310806 NM_018353.4 157 aaa/aaAa 0 -MKI67 UCSF GRCh37 10 129904284 129904284 + synonymous_variant Silent SNP C C T NOVEL P11_Rec Untested WXS Illumina HiSeq 157 34 236 0 ENST00000368654.3:c.5820G>A p.Arg1940= p.R1940= ENST00000368654 NM_002417.4 1940 cgG/cgA 0 -MST1 UCSF GRCh37 3 49723545 49723545 + missense_variant Missense_Mutation SNP G G A snp132_rs4052562 P11_Rec Untested WXS Illumina HiSeq 32 6 25 1 ENST00000449682.2:c.1097C>T p.Ala366Val p.A366V ENST00000449682 NM_020998.3 366 gCg/gTg 0 -MST1 UCSF GRCh37 3 49723542 49723542 + missense_variant Missense_Mutation SNP G G C snp132_rs2087732 P11_Rec Untested WXS Illumina HiSeq 33 6 25 1 ENST00000449682.2:c.1100C>G p.Ala367Gly p.A367G ENST00000449682 NM_020998.3 367 gCc/gGc 0 -MYO10 UCSF GRCh37 5 16711041 16711041 + synonymous_variant Silent SNP G G A NOVEL P11_Rec Untested WXS Illumina HiSeq 125 24 118 0 ENST00000513610.1:c.2145C>T p.Ser715= p.S715= ENST00000513610 NM_012334.2 715 agC/agT 0 -NBPF4 UCSF GRCh37 1 108769307 108769307 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.062,1000g2011may_all_0.2082,snp132_rs2582071 P11_Rec Untested WXS Illumina HiSeq 72 10 79 1 ENST00000415641.3:c.1869C>T p.Ser623= p.S623= ENST00000415641 NM_001143989.2 623 agC/agT 0 -NYNRIN UCSF GRCh37 14 24878453 24878453 + missense_variant Missense_Mutation SNP T T C NOVEL P11_Rec Untested WXS Illumina HiSeq 86 37 87 0 ENST00000382554.3:c.1453T>C p.Ser485Pro p.S485P ENST00000382554 NM_025081.2 485 Tct/Cct 0 -PEAK1 UCSF GRCh37 15 77473938 77473939 + frameshift_variant Frame_Shift_Del DEL AG AG - NOVEL P11_Rec Untested WXS Illumina HiSeq 7 0 ENST00000560626.2:c.330_331del p.Leu111GlufsTer6 p.L111Efs*6 ENST00000560626 110 gcCTtg/gctg 0 -PHKA2 UCSF GRCh37 X 18924630 18924630 + missense_variant Missense_Mutation SNP C C T NOVEL P11_Rec Untested WXS Illumina HiSeq 56 37 78 0 ENST00000379942.4:c.2789G>A p.Arg930Gln p.R930Q ENST00000379942 NM_000292.2 930 cGg/cAg 0 -PKD1L1 UCSF GRCh37 7 47913571 47913571 + synonymous_variant Silent SNP G G A NOVEL P11_Rec Untested WXS Illumina HiSeq 32 25 45 0 ENST00000289672.2:c.3822C>T p.Ser1274= p.S1274= ENST00000289672 NM_138295.3 1274 tcC/tcT 0 -PTCRA UCSF GRCh37 6 42893351 42893351 + synonymous_variant Silent SNP T T G NOVEL P11_Rec Untested WXS Illumina HiSeq 17 9 27 0 ENST00000304672.1:c.777T>G p.Ala259= p.A259= ENST00000304672 NM_001243168.1 259 gcT/gcG 0 -RGS5 UCSF GRCh37 1 163138051 163138051 + missense_variant Missense_Mutation SNP T T A NOVEL P11_Rec Untested WXS Illumina HiSeq 129 29 171 0 ENST00000530507.1:c.152A>T p.Gln51Leu p.Q51L ENST00000530507 51 cAg/cTg 0 -SIDT2 UCSF GRCh37 11 117060735 117060735 + missense_variant Missense_Mutation SNP A A G NOVEL P11_Rec Untested WXS Illumina HiSeq 84 48 122 0 ENST00000324225.4:c.1487A>G p.Asn496Ser p.N496S ENST00000324225 NM_001040455.1 496 aAt/aGt 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P11_Rec Untested WXS Illumina HiSeq 26 58 50 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TPSAB1 UCSF GRCh37 16 1291639 1291639 + synonymous_variant Silent SNP A A G snp132_rs1064783 P11_Rec Untested WXS Illumina HiSeq 75 9 60 1 ENST00000338844.3:c.438A>G p.Ser146= p.S146= ENST00000338844 NM_003294.3 146 tcA/tcG 0 -UNC5C UCSF GRCh37 4 96104084 96104084 + synonymous_variant Silent SNP T T C NOVEL P11_Rec Untested WXS Illumina HiSeq 107 35 153 0 ENST00000453304.1:c.2415A>G p.Glu805= p.E805= ENST00000453304 NM_003728.3 805 gaA/gaG 0 -WDR81 UCSF GRCh37 17 1637482 1637482 + synonymous_variant Silent SNP G G T NOVEL P11_Rec Untested WXS Illumina HiSeq 29 4 27 0 ENST00000409644.1:c.5151G>T p.Gly1717= p.G1717= ENST00000409644 NM_001163809.1 1717 ggG/ggT 0 -ZNF483 UCSF GRCh37 9 114304413 114304413 + missense_variant Missense_Mutation SNP A A C NOVEL P11_Rec Untested WXS Illumina HiSeq 180 95 195 0 ENST00000309235.5:c.1198A>C p.Ile400Leu p.I400L ENST00000309235 NM_133464.2 400 Att/Ctt 0 -ASB5 UCSF GRCh37 4 177142715 177142715 + missense_variant Missense_Mutation SNP A A G NOVEL P12_Pri somatic WXS Sanger Illumina HiSeq 97 86 133 0 ENST00000296525.3:c.421T>C p.Phe141Leu p.F141L ENST00000296525 NM_080874.3 141 Ttc/Ctc 0 -ATRX UCSF GRCh37 X 76939908 76939920 + frameshift_variant Frame_Shift_Del DEL ACATGCAGTGACC ACATGCAGTGACC - NOVEL P12_Pri Untested WXS Illumina HiSeq 116 0 ENST00000373344.5:c.828_840del p.Val277ThrfsTer7 p.V277Tfs*7 ENST00000373344 NM_000489.3 276 ttGGTCACTGCATGT/tt 0 -C7orf57 UCSF GRCh37 7 48086205 48086205 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P12_Pri Untested WXS Illumina HiSeq 6 0 ENST00000348904.3:c.506del p.Lys169SerfsTer2 p.K169Sfs*2 ENST00000348904 NM_001100159.2 167 Aaa/aa 0 -CAMT-ND1 UCSF GRCh37 12 67686492 67686492 + synonymous_variant Silent SNP A A G NOVEL P12_Pri Untested WXS Illumina HiSeq 129 94 156 0 ENST00000545606.1:c.303A>G p.Gln101= p.Q101= ENST00000545606 NM_018448.3 101 caA/caG 0 -CHST8 UCSF GRCh37 19 34263267 34263267 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Pri somatic WXS Sanger Illumina HiSeq 8 9 63 0 ENST00000262622.4:c.574G>A p.Val192Met p.V192M ENST00000262622 NM_022467.3 192 Gtg/Atg 0 -COL6A3 UCSF GRCh37 2 238253159 238253159 + missense_variant Missense_Mutation SNP C C T NOVEL P12_Pri Untested WXS Illumina HiSeq 123 98 164 0 ENST00000295550.4:c.7502G>A p.Arg2501His p.R2501H ENST00000295550 NM_004369.3 2501 cGt/cAt 0 -DGAT2L6 UCSF GRCh37 X 69424267 69424268 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P12_Pri Untested WXS Illumina HiSeq 39 0 ENST00000333026.3:c.766dup p.Ile256AsnfsTer42 p.I256Nfs*42 ENST00000333026 NM_198512.1 254 aaa/aAaa 0 -DNMT1 UCSF GRCh37 19 10270707 10270742 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region DEL ACTGTTTTGGCGCGAGCCATTTTTTTCTCCGTTCTG ACTGTTTTGGCGCGAGCCATTTTTTTCTCCGTTCTG TTTGTTTGGGCGGGAGCCATTTTTTTCTCCGTTCT NOVEL P12_Pri Untested WXS Illumina HiSeq 6 0 ENST00000340748.4:c.996-3_1028delinsAGAACGGAGAAAAAAATGGCTCCCGCCCAAACAAA p.X332_splice ENST00000340748 0 -FAF2 UCSF GRCh37 5 175927025 175927025 + missense_variant Missense_Mutation SNP A A G NOVEL P12_Pri somatic WXS Sanger Illumina HiSeq 102 67 142 0 ENST00000261942.6:c.1033A>G p.Arg345Gly p.R345G ENST00000261942 NM_014613.2 345 Agg/Ggg 0 -GPC2 UCSF GRCh37 7 99773267 99773267 + synonymous_variant Silent SNP G G C NOVEL P12_Pri somatic WXS Sanger Illumina HiSeq 41 33 71 0 ENST00000292377.2:c.576C>G p.Leu192= p.L192= ENST00000292377 NM_152742.1 192 ctC/ctG 0 -IARS UCSF GRCh37 9 95040528 95040528 + synonymous_variant Silent SNP T T C NOVEL P12_Pri Untested WXS Illumina HiSeq 143 113 180 0 ENST00000375643.3:c.786A>G p.Arg262= p.R262= ENST00000375643 NM_013417.3 262 agA/agG 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P12_Pri somatic WXS Sanger Illumina HiSeq 91 85 125 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KIF25 UCSF GRCh37 6 168430348 168430348 + missense_variant Missense_Mutation SNP A A T 1000g2010nov_all_0.200,1000g2011may_all_0.2270,snp132_rs4708626 P12_Pri Untested WXS Illumina HiSeq 87 10 75 1 ENST00000443060.2:c.83A>T p.Lys28Met p.K28M ENST00000443060 28 aAg/aTg 0 -ODZ4 UCSF GRCh37 11 78437125 78437125 + splice_region_variant,synonymous_variant Splice_Region SNP A A G NOVEL P12_Pri Untested WXS Illumina HiSeq 208 105 203 0 ENST00000278550.7:c.3549T>C p.Ser1183= p.S1183= ENST00000278550 NM_001098816.2 1183 agT/agC 0 -PI4KA UCSF GRCh37 22 21065645 21065645 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.330,1000g2011may_all_0.3814,snp132_rs1135934 P12_Pri Untested WXS Illumina HiSeq 33 4 34 1 ENST00000255882.6:c.5907T>C p.Gly1969= p.G1969= ENST00000255882 NM_058004.3 1969 ggT/ggC 0 -PIEZO2 UCSF GRCh37 18 10758061 10758061 + stop_gained Nonsense_Mutation SNP G G A NOVEL P12_Pri Untested WXS Illumina HiSeq 136 101 193 0 ENST00000503781.3:c.3754C>T p.Arg1252Ter p.R1252* ENST00000503781 NM_022068.2 1252 Cga/Tga 0 -PMEL UCSF GRCh37 12 56351767 56351767 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Pri Untested WXS Illumina HiSeq 91 63 132 0 ENST00000449260.2:c.571C>T p.Arg191Cys p.R191C ENST00000449260 NM_001200054.1 191 Cgc/Tgc 0 -SAG UCSF GRCh37 2 234224735 234224735 + synonymous_variant Silent SNP G G C NOVEL P12_Pri Untested WXS Illumina HiSeq 91 50 147 0 ENST00000409110.1:c.90G>C p.Leu30= p.L30= ENST00000409110 NM_000541.4 30 ctG/ctC 0 -SEZ6L2 UCSF GRCh37 16 29900024 29900024 + synonymous_variant Silent SNP G G A NOVEL P12_Pri Untested WXS Illumina HiSeq 48 10 41 1 ENST00000308713.5:c.876C>T p.Phe292= p.F292= ENST00000308713 NM_001114099.2 292 ttC/ttT 0 -SLC38A4 UCSF GRCh37 12 47186817 47186817 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Pri Untested WXS Illumina HiSeq 135 78 178 0 ENST00000447411.1:c.38C>T p.Pro13Leu p.P13L ENST00000447411 NM_001143824.1 13 cCa/cTa 0 -SLC7A2 UCSF GRCh37 8 17401018 17401018 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Pri Untested WXS Illumina HiSeq 82 70 103 0 ENST00000004531.10:c.290G>A p.Gly97Glu p.G97E ENST00000004531 NM_001164771.1 97 gGg/gAg 0 -TP53 UCSF GRCh37 17 7578406 7578406 + missense_variant Missense_Mutation SNP C C T snp132_rs28934578 P12_Pri somatic WXS Sanger Illumina HiSeq 10 100 87 0 ENST00000269305.4:c.524G>A p.Arg175His p.R175H ENST00000269305 NM_001126112.2 175 cGc/cAc 0 -ADAM20 UCSF GRCh37 14 70990780 70990780 + missense_variant Missense_Mutation SNP T T C NOVEL P12_Rec Untested WXS Illumina HiSeq 61 92 164 0 ENST00000256389.3:c.845A>G p.His282Arg p.H282R ENST00000256389 NM_003814.4 282 cAt/cGt 0 -ASB5 UCSF GRCh37 4 177142715 177142715 + missense_variant Missense_Mutation SNP A A G NOVEL P12_Rec somatic WXS Sanger Illumina HiSeq 101 70 133 0 ENST00000296525.3:c.421T>C p.Phe141Leu p.F141L ENST00000296525 NM_080874.3 141 Ttc/Ctc 0 -ATP8B1 UCSF GRCh37 18 55315829 55315829 + missense_variant Missense_Mutation SNP C C G NOVEL P12_Rec Untested WXS Illumina HiSeq 28 6 35 0 ENST00000536015.1:c.3647G>C p.Gly1216Ala p.G1216A ENST00000536015 NM_005603.4 1216 gGc/gCc 0 -ATP8B1 UCSF GRCh37 18 55315832 55315832 + missense_variant Missense_Mutation SNP C C A NOVEL P12_Rec Untested WXS Illumina HiSeq 25 7 34 0 ENST00000536015.1:c.3644G>T p.Arg1215Leu p.R1215L ENST00000536015 NM_005603.4 1215 cGg/cTg 0 -ATRX UCSF GRCh37 X 76939908 76939920 + frameshift_variant Frame_Shift_Del DEL ACATGCAGTGACC ACATGCAGTGACC - NOVEL P12_Rec Untested WXS Illumina HiSeq 86 0 ENST00000373344.5:c.828_840del p.Val277ThrfsTer7 p.V277Tfs*7 ENST00000373344 NM_000489.3 276 ttGGTCACTGCATGT/tt 0 -B3GNT3 UCSF GRCh37 19 17922618 17922618 + missense_variant Missense_Mutation SNP G G C NOVEL P12_Rec Untested WXS Illumina HiSeq 79 141 113 0 ENST00000318683.6:c.806G>C p.Gly269Ala p.G269A ENST00000318683 NM_014256.3 269 gGg/gCg 0 -CACNA1E UCSF GRCh37 1 181686272 181686272 + synonymous_variant Silent SNP C C T NOVEL P12_Rec Untested WXS Illumina HiSeq 137 124 155 0 ENST00000367573.2:c.1359C>T p.Asp453= p.D453= ENST00000367573 NM_001205293.1 453 gaC/gaT 0 -COL6A3 UCSF GRCh37 2 238253159 238253159 + missense_variant Missense_Mutation SNP C C T NOVEL P12_Rec Untested WXS Illumina HiSeq 124 86 164 0 ENST00000295550.4:c.7502G>A p.Arg2501His p.R2501H ENST00000295550 NM_004369.3 2501 cGt/cAt 0 -DGAT2L6 UCSF GRCh37 X 69424267 69424268 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P12_Rec Untested WXS Illumina HiSeq 30 0 ENST00000333026.3:c.766dup p.Ile256AsnfsTer42 p.I256Nfs*42 ENST00000333026 NM_198512.1 254 aaa/aAaa 0 -EVX2 UCSF GRCh37 2 176945393 176945393 + synonymous_variant Silent SNP G G A NOVEL P12_Rec Untested WXS Illumina HiSeq 7 10 14 0 ENST00000308618.4:c.873C>T p.Gly291= p.G291= ENST00000308618 NM_001080458.1 291 ggC/ggT 0 -GFPT2 UCSF GRCh37 5 179755331 179755331 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Rec Untested WXS Illumina HiSeq 119 20 56 0 ENST00000253778.8:c.542C>T p.Ala181Val p.A181V ENST00000253778 NM_005110.2 181 gCa/gTa 0 -GIPC2 UCSF GRCh37 1 78560731 78560731 + synonymous_variant Silent SNP T T C NOVEL P12_Rec Untested WXS Illumina HiSeq 158 87 172 0 ENST00000370759.3:c.522T>C p.Arg174= p.R174= ENST00000370759 NM_017655.4 174 cgT/cgC 0 -IARS UCSF GRCh37 9 95040528 95040528 + synonymous_variant Silent SNP T T C NOVEL P12_Rec Untested WXS Illumina HiSeq 126 104 180 0 ENST00000375643.3:c.786A>G p.Arg262= p.R262= ENST00000375643 NM_013417.3 262 agA/agG 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P12_Rec somatic WXS Sanger Illumina HiSeq 75 63 125 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KBTBD5 UCSF GRCh37 3 42728091 42728091 + synonymous_variant Silent SNP C C T NOVEL P12_Rec Untested WXS Illumina HiSeq 123 24 108 0 ENST00000287777.4:c.981C>T p.Gly327= p.G327= ENST00000287777 NM_152393.3 327 ggC/ggT 0 -KIAA0430 UCSF GRCh37 16 15727556 15727556 + missense_variant Missense_Mutation SNP C C T NOVEL P12_Rec Untested WXS Illumina HiSeq 115 101 173 0 ENST00000396368.3:c.1151G>A p.Gly384Asp p.G384D ENST00000396368 NM_001184998.1 384 gGc/gAc 0 -MRC2 UCSF GRCh37 17 60744152 60744152 + synonymous_variant Silent SNP C C T NOVEL P12_Rec Untested WXS Illumina HiSeq 15 15 29 0 ENST00000303375.5:c.894C>T p.Ile298= p.I298= ENST00000303375 NM_006039.4 298 atC/atT 0 -PIEZO2 UCSF GRCh37 18 10758061 10758061 + stop_gained Nonsense_Mutation SNP G G A NOVEL P12_Rec Untested WXS Illumina HiSeq 153 99 193 0 ENST00000503781.3:c.3754C>T p.Arg1252Ter p.R1252* ENST00000503781 NM_022068.2 1252 Cga/Tga 0 -PITX2 UCSF GRCh37 4 111553569 111553569 + synonymous_variant Silent SNP C C G NOVEL P12_Rec Untested WXS Illumina HiSeq 94 19 85 0 ENST00000354925.2:c.114G>C p.Thr38= p.T38= ENST00000354925 NM_001204397.1 38 acG/acC 0 -PMEL UCSF GRCh37 12 56351767 56351767 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Rec Untested WXS Illumina HiSeq 82 73 132 0 ENST00000449260.2:c.571C>T p.Arg191Cys p.R191C ENST00000449260 NM_001200054.1 191 Cgc/Tgc 0 -SLC7A2 UCSF GRCh37 8 17401018 17401018 + missense_variant Missense_Mutation SNP G G A NOVEL P12_Rec Untested WXS Illumina HiSeq 61 64 103 0 ENST00000004531.10:c.290G>A p.Gly97Glu p.G97E ENST00000004531 NM_001164771.1 97 gGg/gAg 0 -SMARCA4 UCSF GRCh37 19 11132549 11132549 + missense_variant Missense_Mutation SNP G G C NOVEL P12_Rec somatic WXS Sanger Illumina HiSeq 46 86 75 0 ENST00000344626.4:c.2765G>C p.Trp922Ser p.W922S ENST00000344626 NM_003072.3 922 tGg/tCg 0 -SSPO UCSF GRCh37 7 149490407 149490407 + non_coding_transcript_exon_variant RNA SNP G G A 1000g2011may_all_0.0039 P12_Rec Untested WXS Illumina HiSeq 15 7 23 0 ENST00000378016.2:n.5883G>A *1961* ENST00000378016 0 -TCHP UCSF GRCh37 12 110346455 110346455 + missense_variant Missense_Mutation SNP A A G snp132_rs78378786 P12_Rec Untested WXS Illumina HiSeq 18 4 28 1 ENST00000312777.5:c.764A>G p.Glu255Gly p.E255G ENST00000312777 NM_032300.4 255 gAg/gGg 0 -TMTC1 UCSF GRCh37 12 29920865 29920865 + missense_variant Missense_Mutation SNP A A C NOVEL P12_Rec Untested WXS Illumina HiSeq 121 15 130 0 ENST00000539277.1:c.446T>G p.Leu149Trp p.L149W ENST00000539277 NM_001193451.1 149 tTg/tGg 0 -TP53 UCSF GRCh37 17 7578406 7578406 + missense_variant Missense_Mutation SNP C C T snp132_rs28934578 P12_Rec somatic WXS Sanger Illumina HiSeq 9 99 87 0 ENST00000269305.4:c.524G>A p.Arg175His p.R175H ENST00000269305 NM_001126112.2 175 cGc/cAc 0 -WDFY3 UCSF GRCh37 4 85605229 85605229 + missense_variant Missense_Mutation SNP T T C NOVEL P12_Rec Untested WXS Illumina HiSeq 90 77 121 0 ENST00000295888.4:c.9593A>G p.Asn3198Ser p.N3198S ENST00000295888 NM_014991.4 3198 aAt/aGt 0 -ZBTB45 UCSF GRCh37 19 59028912 59028912 + synonymous_variant Silent SNP C C T NOVEL P12_Rec Untested WXS Illumina HiSeq 58 51 74 0 ENST00000594051.1:c.129G>A p.Ser43= p.S43= ENST00000594051 43 tcG/tcA 0 -AIM2 UCSF GRCh37 1 159032487 159032488 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P13_Pri Untested WXS Illumina HiSeq 6 0 ENST00000368130.4:c.1027dup p.Thr343AsnfsTer5 p.T343Nfs*5 ENST00000368130 NM_004833.1 342 -/A 0 -ASH1L UCSF GRCh37 1 155308000 155308000 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P13_Pri Untested WXS Illumina HiSeq 8 0 ENST00000392403.3:c.8683delA p.Thr2895GlnfsTer44 p.T2895Qfs*44 ENST00000392403 NM_018489.2 2895 Aca/ca 0 -ATRX UCSF GRCh37 X 76918952 76918955 + frameshift_variant Frame_Shift_Del DEL CAGT CAGT - NOVEL P13_Pri somatic WXS Sanger Illumina HiSeq 33 0 ENST00000373344.5:c.4036_4039del p.Thr1346Ter p.T1346* ENST00000373344 NM_000489.3 1346 ACTGtg/tg 0 -CDC7 UCSF GRCh37 1 91967357 91967357 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P13_Pri Untested WXS Illumina HiSeq 6 0 ENST00000428239.1:c.92delA p.Asn31ThrfsTer51 p.N31Tfs*51 ENST00000428239 NM_001134420.1 28 ttA/tt 0 -CNOT1 UCSF GRCh37 16 58580377 58580377 + missense_variant Missense_Mutation SNP A A C NOVEL P13_Pri Untested WXS Illumina HiSeq 110 21 126 1 ENST00000317147.5:c.3854T>G p.Val1285Gly p.V1285G ENST00000317147 NM_016284.4 1285 gTt/gGt 0 -CNOT1 UCSF GRCh37 16 58612662 58612662 + missense_variant Missense_Mutation SNP T T C snp132_rs112226008 P13_Pri Untested WXS Illumina HiSeq 115 58 147 0 ENST00000317147.5:c.1525A>G p.Ile509Val p.I509V ENST00000317147 NM_016284.4 509 Att/Gtt 0 -COL12A1 UCSF GRCh37 6 75890724 75890724 + missense_variant Missense_Mutation SNP C C A NOVEL P13_Pri Untested WXS Illumina HiSeq 99 38 171 0 ENST00000322507.8:c.2095G>T p.Val699Phe p.V699F ENST00000322507 NM_004370.5 699 Gtc/Ttc 0 -CR2 UCSF GRCh37 1 207643301 207643301 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Pri Untested WXS Illumina HiSeq 108 40 154 0 ENST00000367057.3:c.1079G>A p.Arg360Gln p.R360Q ENST00000367057 NM_001006658.2 360 cGa/cAa 0 -DYNC1I2 UCSF GRCh37 2 172549339 172549339 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P13_Pri Untested WXS Illumina HiSeq 7 0 ENST00000397119.3:c.169delA p.Arg57GlyfsTer13 p.R57Gfs*13 ENST00000397119 NM_001378.2 54 gAa/ga 0 -ELL2 UCSF GRCh37 5 95231362 95231362 + missense_variant Missense_Mutation SNP G G C NOVEL P13_Pri Untested WXS Illumina HiSeq 65 24 72 0 ENST00000237853.4:c.1559C>G p.Pro520Arg p.P520R ENST00000237853 NM_012081.5 520 cCt/cGt 0 -FAR2 UCSF GRCh37 12 29450110 29450110 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P13_Pri Untested WXS Illumina HiSeq 6 0 ENST00000536681.3:c.529delA p.Ile177SerfsTer8 p.I177Sfs*8 ENST00000536681 NM_001271783.1 174 ccA/cc 0 -FGF12 UCSF GRCh37 3 191888444 191888444 + missense_variant,splice_region_variant Missense_Mutation SNP T T C NOVEL P13_Pri Untested WXS Illumina HiSeq 132 52 164 0 ENST00000454309.2:c.416A>G p.Asp139Gly p.D139G ENST00000454309 NM_021032.4 139 gAt/gGt 0 -FMN2 UCSF GRCh37 1 240371223 240371223 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.149 P13_Pri Untested WXS Illumina HiSeq 12 4 18 0 ENST00000319653.9:c.3111C>T p.Pro1037= p.P1037= ENST00000319653 NM_020066.4 1037 ccC/ccT 0 -IDH1 UCSF GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G C NOVEL P13_Pri Untested WXS Illumina HiSeq 86 33 136 0 ENST00000345146.2:c.394C>G p.Arg132Gly p.R132G ENST00000345146 NM_005896.2 132 Cgt/Ggt 0 -INTU UCSF GRCh37 4 128564702 128564702 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Pri Untested WXS Illumina HiSeq 174 37 199 0 ENST00000335251.6:c.173G>A p.Ser58Asn p.S58N ENST00000335251 NM_015693.3 58 aGt/aAt 0 -KLF17 UCSF GRCh37 1 44595246 44595246 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P13_Pri Untested WXS Illumina HiSeq 7 0 ENST00000372299.3:c.307del p.Gln103LysfsTer9 p.Q103Kfs*9 ENST00000372299 NM_173484.3 101 tgC/tg 0 -MUC5B UCSF GRCh37 11 1253980 1253980 + missense_variant Missense_Mutation SNP A A G 1000g2010nov_all_0.103,snp132_rs115853043 P13_Pri Untested WXS Illumina HiSeq 11 5 19 1 ENST00000529681.1:c.2045A>G p.Asp682Gly p.D682G ENST00000529681 NM_002458.2 682 gAc/gGc 0 -PCLO UCSF GRCh37 7 82581498 82581499 + inframe_insertion In_Frame_Ins INS - - TCT NOVEL P13_Pri Untested WXS Illumina HiSeq 6 0 ENST00000333891.9:c.8770_8771insAGA p.Ile2923_Ile2924insLys p.I2923_I2924insK ENST00000333891 NM_033026.5 2924 ata/aAGAta 0 -PRDM9 UCSF GRCh37 5 23510029 23510029 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P13_Pri somatic WXS Sanger Illumina HiSeq 77 20 101 0 ENST00000296682.3:c.194G>A p.Gly65Asp p.G65D ENST00000296682 NM_020227.2 65 gGt/gAt 0 -PZP UCSF GRCh37 12 9349246 9349246 + synonymous_variant Silent SNP G G A NOVEL P13_Pri Untested WXS Illumina HiSeq 235 35 221 0 ENST00000261336.2:c.903C>T p.His301= p.H301= ENST00000261336 NM_002864.2 301 caC/caT 0 -SEMA4B UCSF GRCh37 15 90771680 90771680 + synonymous_variant Silent SNP C C T NOVEL P13_Pri Untested WXS Illumina HiSeq 55 24 94 0 ENST00000411539.2:c.2319C>T p.Asn773= p.N773= ENST00000411539 NM_198925.2 773 aaC/aaT 0 -SHROOM3 UCSF GRCh37 4 77675759 77675759 + stop_gained Nonsense_Mutation SNP C C T NOVEL P13_Pri somatic WXS Sanger Illumina HiSeq 45 22 101 0 ENST00000296043.6:c.4123C>T p.Arg1375Ter p.R1375* ENST00000296043 NM_020859.3 1375 Cga/Tga 0 -SLFN13 UCSF GRCh37 17 33771784 33771784 + missense_variant Missense_Mutation SNP C C G 1000g2010nov_all_0.015,1000g2011may_all_0.0426,snp132_rs78359177 P13_Pri Untested WXS Illumina HiSeq 146 67 188 0 ENST00000285013.6:c.916G>C p.Glu306Gln p.E306Q ENST00000285013 NM_144682.5 306 Gag/Cag 0 -TKTL2 UCSF GRCh37 4 164394416 164394416 + synonymous_variant Silent SNP G G A NOVEL P13_Pri Untested WXS Illumina HiSeq 110 18 145 0 ENST00000280605.3:c.471C>T p.Gly157= p.G157= ENST00000280605 NM_032136.4 157 ggC/ggT 0 -TP53 UCSF GRCh37 17 7579370 7579370 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P13_Pri somatic WXS Sanger Illumina HiSeq 41 0 ENST00000269305.4:c.317del p.Ser106ThrfsTer17 p.S106Tfs*17 ENST00000269305 NM_001126112.2 106 aGc/ac 0 -TP53 UCSF GRCh37 17 7577515 7577516 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P13_Pri somatic WXS Sanger Illumina HiSeq 11 0 ENST00000269305.4:c.766dup p.Thr256AsnfsTer8 p.T256Nfs*8 ENST00000269305 NM_001126112.2 255 -/A 0 -TRIO UCSF GRCh37 5 14389501 14389503 + inframe_deletion In_Frame_Del DEL ATA ATA - NOVEL P13_Pri Untested WXS Illumina HiSeq 8 0 ENST00000344204.4:c.4056_4058del p.Asn1353del p.N1353del ENST00000344204 NM_007118.2 1351 cATAat/cat 0 -TTC28 UCSF GRCh37 22 28501647 28501647 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Pri Untested WXS Illumina HiSeq 103 65 194 0 ENST00000397906.2:c.2927C>T p.Ala976Val p.A976V ENST00000397906 NM_001145418.1 976 gCc/gTc 0 -UBE2J2 UCSF GRCh37 1 1191458 1191459 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P13_Pri Untested WXS Illumina HiSeq 16 0 ENST00000400930.4:c.509_510del p.Lys170SerfsTer4 p.K170Sfs*4 ENST00000400930 NM_194315.1 170 aAA/a 0 -ZRANB3 UCSF GRCh37 2 136148382 136148396 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region DEL ACCATACACCTGGAA ACCATACACCTGGAA CCCAAACCCCTGG NOVEL P13_Pri Untested WXS Illumina HiSeq 6 0 ENST00000264159.6:c.162-6_170delinsCCAGGGGTTTGGG p.X54_splice ENST00000264159 NM_032143.2 0 -ATRX UCSF GRCh37 X 76918952 76918955 + frameshift_variant Frame_Shift_Del DEL CAGT CAGT - NOVEL P13_Rec somatic WXS Sanger Illumina HiSeq 35 0 ENST00000373344.5:c.4036_4039del p.Thr1346Ter p.T1346* ENST00000373344 NM_000489.3 1346 ACTGtg/tg 0 -CCDC99 UCSF GRCh37 5 169021488 169021488 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P13_Rec Untested WXS Illumina HiSeq 17 0 ENST00000265295.4:c.774del p.Phe258LeufsTer18 p.F258Lfs*18 ENST00000265295 NM_017785.4 258 Ttt/tt 0 -CNOT1 UCSF GRCh37 16 58612662 58612662 + missense_variant Missense_Mutation SNP T T C snp132_rs112226008 P13_Rec Untested WXS Illumina HiSeq 93 42 147 0 ENST00000317147.5:c.1525A>G p.Ile509Val p.I509V ENST00000317147 NM_016284.4 509 Att/Gtt 0 -COL12A1 UCSF GRCh37 6 75890724 75890724 + missense_variant Missense_Mutation SNP C C A NOVEL P13_Rec Untested WXS Illumina HiSeq 113 47 171 0 ENST00000322507.8:c.2095G>T p.Val699Phe p.V699F ENST00000322507 NM_004370.5 699 Gtc/Ttc 0 -CR2 UCSF GRCh37 1 207643301 207643301 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Rec Untested WXS Illumina HiSeq 111 40 154 0 ENST00000367057.3:c.1079G>A p.Arg360Gln p.R360Q ENST00000367057 NM_001006658.2 360 cGa/cAa 0 -ELL2 UCSF GRCh37 5 95231362 95231362 + missense_variant Missense_Mutation SNP G G C NOVEL P13_Rec Untested WXS Illumina HiSeq 70 17 72 0 ENST00000237853.4:c.1559C>G p.Pro520Arg p.P520R ENST00000237853 NM_012081.5 520 cCt/cGt 0 -FGF12 UCSF GRCh37 3 191888444 191888444 + missense_variant,splice_region_variant Missense_Mutation SNP T T C NOVEL P13_Rec Untested WXS Illumina HiSeq 115 32 164 0 ENST00000454309.2:c.416A>G p.Asp139Gly p.D139G ENST00000454309 NM_021032.4 139 gAt/gGt 0 -GLTSCR1 UCSF GRCh37 19 48205548 48205548 + missense_variant Missense_Mutation SNP C C T NOVEL P13_Rec Untested WXS Illumina HiSeq 19 9 23 0 ENST00000396720.3:c.4559C>T p.Ala1520Val p.A1520V ENST00000396720 NM_015711.3 1520 gCg/gTg 0 -HACE1 UCSF GRCh37 6 105219151 105219151 + missense_variant Missense_Mutation SNP C C G NOVEL P13_Rec Untested WXS Illumina HiSeq 112 22 136 0 ENST00000262903.4:c.2128G>C p.Val710Leu p.V710L ENST00000262903 NM_020771.3 710 Gtt/Ctt 0 -IDH1 UCSF GRCh37 2 209113113 209113113 + missense_variant Missense_Mutation SNP G G C NOVEL P13_Rec Untested WXS Illumina HiSeq 69 27 136 0 ENST00000345146.2:c.394C>G p.Arg132Gly p.R132G ENST00000345146 NM_005896.2 132 Cgt/Ggt 0 -INTU UCSF GRCh37 4 128564702 128564702 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Rec Untested WXS Illumina HiSeq 154 33 199 0 ENST00000335251.6:c.173G>A p.Ser58Asn p.S58N ENST00000335251 NM_015693.3 58 aGt/aAt 0 -LAMA1 UCSF GRCh37 18 6971860 6971860 + missense_variant Missense_Mutation SNP C C T NOVEL P13_Rec Untested WXS Illumina HiSeq 139 34 177 0 ENST00000389658.3:c.6895G>A p.Gly2299Arg p.G2299R ENST00000389658 NM_005559.3 2299 Gga/Aga 0 -LCA5L UCSF GRCh37 21 40777928 40777928 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0015 P13_Rec Untested WXS Illumina HiSeq 86 12 102 0 ENST00000358268.2:c.1893G>A p.Ser631= p.S631= ENST00000358268 631 tcG/tcA 0 -MPHOSPH10 UCSF GRCh37 2 71371569 71371571 + inframe_deletion In_Frame_Del DEL AGA AGA - NOVEL P13_Rec Untested WXS Illumina HiSeq 7 0 ENST00000244230.2:c.1465_1467del p.Glu489del p.E489del ENST00000244230 NM_005791.2 486 gcAGAa/gca 0 -MYO18B UCSF GRCh37 22 26194037 26194037 + missense_variant Missense_Mutation SNP C C T NOVEL P13_Rec Untested WXS Illumina HiSeq 62 13 108 0 ENST00000335473.7:c.2494C>T p.His832Tyr p.H832Y ENST00000335473 NM_032608.5 832 Cac/Tac 0 -MYO7A UCSF GRCh37 11 76905469 76905469 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Rec Untested WXS Illumina HiSeq 50 7 61 0 ENST00000409709.3:c.4223G>A p.Arg1408His p.R1408H ENST00000409709 NM_000260.3 1408 cGc/cAc 0 -MYO9B UCSF GRCh37 19 17311626 17311626 + synonymous_variant Silent SNP C C T NOVEL P13_Rec Untested WXS Illumina HiSeq 124 14 153 0 ENST00000595618.1:c.4551C>T p.Phe1517= p.F1517= ENST00000595618 NM_001130065.1 1517 ttC/ttT 0 -NWD1 UCSF GRCh37 19 16872863 16872863 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Rec Untested WXS Illumina HiSeq 101 15 102 0 ENST00000524140.2:c.2047G>A p.Asp683Asn p.D683N ENST00000524140 NM_001007525.3 683 Gac/Aac 0 -PRDM9 UCSF GRCh37 5 23510029 23510029 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P13_Rec somatic WXS Sanger Illumina HiSeq 58 26 101 0 ENST00000296682.3:c.194G>A p.Gly65Asp p.G65D ENST00000296682 NM_020227.2 65 gGt/gAt 0 -PROL1 UCSF GRCh37 4 71275502 71275502 + missense_variant Missense_Mutation SNP A A G NOVEL P13_Rec Untested WXS Illumina HiSeq 133 19 168 0 ENST00000399575.2:c.457A>G p.Ile153Val p.I153V ENST00000399575 NM_021225.4 153 Atc/Gtc 0 -RBPJ UCSF GRCh37 4 26426014 26426017 + frameshift_variant Frame_Shift_Del DEL CAGA CAGA - NOVEL P13_Rec Untested WXS Illumina HiSeq 12 0 ENST00000342295.1:c.589_592delACAG p.Thr197LeufsTer8 p.T197Lfs*8 ENST00000342295 NM_005349.3 196 CAGAca/ca 0 -RIF1 UCSF GRCh37 2 152320028 152320028 + missense_variant Missense_Mutation SNP C C G NOVEL P13_Rec Untested WXS Illumina HiSeq 134 20 128 0 ENST00000243326.5:c.3994C>G p.Leu1332Val p.L1332V ENST00000243326 1332 Ctt/Gtt 0 -RPL35 UCSF GRCh37 9 127623796 127623798 + inframe_deletion In_Frame_Del DEL CTT CTT - NOVEL P13_Rec Untested WXS Illumina HiSeq 8 0 ENST00000348462.3:c.40_42del p.Lys14del p.K14del ENST00000348462 NM_007209.3 14 AAG/- 0 -SDK1 UCSF GRCh37 7 4153752 4153752 + synonymous_variant Silent SNP A A G NOVEL P13_Rec Untested WXS Illumina HiSeq 76 9 91 0 ENST00000404826.2:c.3669A>G p.Ser1223= p.S1223= ENST00000404826 NM_152744.3 1223 tcA/tcG 0 -SEMA4B UCSF GRCh37 15 90771680 90771680 + synonymous_variant Silent SNP C C T NOVEL P13_Rec Untested WXS Illumina HiSeq 78 27 94 0 ENST00000411539.2:c.2319C>T p.Asn773= p.N773= ENST00000411539 NM_198925.2 773 aaC/aaT 0 -SHROOM3 UCSF GRCh37 4 77675759 77675759 + stop_gained Nonsense_Mutation SNP C C T NOVEL P13_Rec somatic WXS Sanger Illumina HiSeq 64 12 101 0 ENST00000296043.6:c.4123C>T p.Arg1375Ter p.R1375* ENST00000296043 NM_020859.3 1375 Cga/Tga 0 -SLFN13 UCSF GRCh37 17 33771784 33771784 + missense_variant Missense_Mutation SNP C C G 1000g2010nov_all_0.015,1000g2011may_all_0.0426,snp132_rs78359177 P13_Rec Untested WXS Illumina HiSeq 114 40 188 0 ENST00000285013.6:c.916G>C p.Glu306Gln p.E306Q ENST00000285013 NM_144682.5 306 Gag/Cag 0 -TP53 UCSF GRCh37 17 7579370 7579370 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P13_Rec somatic WXS Sanger Illumina HiSeq 30 0 ENST00000269305.4:c.317del p.Ser106ThrfsTer17 p.S106Tfs*17 ENST00000269305 NM_001126112.2 106 aGc/ac 0 -TP53 UCSF GRCh37 17 7577515 7577516 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P13_Rec somatic WXS Sanger Illumina HiSeq 8 0 ENST00000269305.4:c.766dup p.Thr256AsnfsTer8 p.T256Nfs*8 ENST00000269305 NM_001126112.2 255 -/A 0 -TTC28 UCSF GRCh37 22 28501647 28501647 + missense_variant Missense_Mutation SNP G G A NOVEL P13_Rec Untested WXS Illumina HiSeq 125 63 194 0 ENST00000397906.2:c.2927C>T p.Ala976Val p.A976V ENST00000397906 NM_001145418.1 976 gCc/gTc 0 -UNC5C UCSF GRCh37 4 96163617 96163617 + missense_variant Missense_Mutation SNP C C G NOVEL P13_Rec Untested WXS Illumina HiSeq 69 11 81 0 ENST00000453304.1:c.1071G>C p.Leu357Phe p.L357F ENST00000453304 NM_003728.3 357 ttG/ttC 0 -ANKRD49 UCSF GRCh37 11 94230059 94230060 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P15_Pri Untested WXS Illumina HiSeq 6 0 ENST00000544612.1:c.208dup p.Met70AsnfsTer14 p.M70Nfs*14 ENST00000544612 NM_017704.2 67 gaa/gaAa 0 -AQP2 UCSF GRCh37 12 50344806 50344806 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Pri Untested WXS Illumina HiSeq 31 21 45 0 ENST00000199280.3:c.193G>A p.Ala65Thr p.A65T ENST00000199280 NM_000486.5 65 Gcc/Acc 0 -ATP2A3 UCSF GRCh37 17 3848013 3848013 + synonymous_variant Silent SNP A A C 1000g2010nov_all_0.333,1000g2011may_all_0.4766,snp132_rs1800911 P15_Pri Untested WXS Illumina HiSeq 17 7 12 0 ENST00000359983.3:c.1272T>G p.Ala424= p.A424= ENST00000359983 424 gcT/gcG 0 -C7orf41 UCSF GRCh37 7 30174773 30174773 + synonymous_variant Silent SNP C C G 1000g2010nov_all_0.152,1000g2011may_all_0.1580,snp132_rs73689406 P15_Pri Untested WXS Illumina HiSeq 11 18 9 0 ENST00000324453.8:c.21C>G p.Ala7= p.A7= ENST00000324453 NM_152793.2 7 gcC/gcG 0 -CCIN UCSF GRCh37 9 36170747 36170747 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0023 P15_Pri Untested WXS Illumina HiSeq 136 40 68 0 ENST00000335119.2:c.1248C>T p.Thr416= p.T416= ENST00000335119 NM_005893.2 416 acC/acT 0 -COL12A1 UCSF GRCh37 6 75892915 75892915 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 166 62 103 0 ENST00000322507.8:c.1742G>A p.Arg581His p.R581H ENST00000322507 NM_004370.5 581 cGc/cAc 0 -EDEM3 UCSF GRCh37 1 184692968 184692999 + coding_sequence_variant,intron_variant Frame_Shift_Ins INS TCAAGAGCTTTTCTGGCATATTCCTGTAATTT TCAAGAGCTTTTCTGGCATATTCCTGTAATTT AAAAAAGGTTTTTTGGCATATTCCTTTAATTTA NOVEL P15_Pri Untested WXS Illumina HiSeq 6 0 ENST00000318130.8:c.748-9_770delinsTAAATTAAAGGAATATGCCAAAAAACCTTTTTT *250fs* ENST00000318130 NM_025191.3 0 -FRMPD4 UCSF GRCh37 X 12734265 12734265 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Pri Untested WXS Illumina HiSeq 217 38 125 0 ENST00000380682.1:c.1687G>A p.Glu563Lys p.E563K ENST00000380682 NM_014728.3 563 Gaa/Aaa 0 -HIST1H4D UCSF GRCh37 6 26189132 26189132 + missense_variant Missense_Mutation SNP A A T NOVEL P15_Pri Untested WXS Illumina HiSeq 126 52 75 0 ENST00000340756.2:c.173T>A p.Val58Glu p.V58E ENST00000340756 NM_003539.3 58 gTg/gAg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 90 53 57 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KCNMA1 UCSF GRCh37 10 78729786 78729786 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P15_Pri Untested WXS Illumina HiSeq 7 0 ENST00000404857.1:c.2132delA p.Lys711SerfsTer17 p.K711Sfs*17 ENST00000404857 NM_001161353.1 711 aAg/ag 0 -KRTAP5-5 UCSF GRCh37 11 1651608 1651637 + inframe_deletion In_Frame_Del DEL AAGCCTTACTGCTGCCAGTCCAGCTGCTGT AAGCCTTACTGCTGCCAGTCCAGCTGCTGT - NOVEL P15_Pri Untested WXS Illumina HiSeq 6 0 ENST00000399676.2:c.543_572del p.Tyr192_Pro201del p.Y192_P201del ENST00000399676 NM_001001480.2 180 AAGCCTTACTGCTGCCAGTCCAGCTGCTGT/- 0 -MUC5B UCSF GRCh37 11 1251743 1251743 + synonymous_variant Silent SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 9 8 20 0 ENST00000529681.1:c.1383C>T p.Thr461= p.T461= ENST00000529681 NM_002458.2 461 acC/acT 0 -NCAM1 UCSF GRCh37 11 113078099 113078102 + splice_donor_variant,coding_sequence_variant Splice_Site DEL AAGT AAGT - NOVEL P15_Pri Untested WXS Illumina HiSeq 18 0 ENST00000524665.1:c.923+2_923+5del p.X308_splice ENST00000524665 NM_000615.6 308 0 -OR6C68 UCSF GRCh37 12 55887087 55887087 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Pri Untested WXS Illumina HiSeq 116 24 82 0 ENST00000548615.1:c.926G>A p.Arg309His p.R309H ENST00000548615 NM_001005519.2 309 cGt/cAt 0 -PLA2G4A UCSF GRCh37 1 186948489 186948489 + missense_variant Missense_Mutation SNP T T C NOVEL P15_Pri Untested WXS Illumina HiSeq 145 36 101 0 ENST00000367466.3:c.2003T>C p.Phe668Ser p.F668S ENST00000367466 NM_024420.2 668 tTt/tCt 0 -PLXNA1 UCSF GRCh37 3 126751380 126751380 + missense_variant Missense_Mutation SNP C C A NOVEL P15_Pri Untested WXS Illumina HiSeq 63 16 45 0 ENST00000393409.2:c.5382C>A p.Asp1794Glu p.D1794E ENST00000393409 NM_032242.3 1794 gaC/gaA 0 -PRG4 UCSF GRCh37 1 186282886 186282886 + synonymous_variant Silent SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 131 32 115 0 ENST00000445192.2:c.4191C>T p.Ser1397= p.S1397= ENST00000445192 NM_005807.3 1397 tcC/tcT 0 -PRR21 UCSF GRCh37 2 240981556 240981556 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 25 4 15 1 ENST00000408934.1:c.844G>A p.Gly282Ser p.G282S ENST00000408934 NM_001080835.1 282 Ggc/Agc 0 -PRR21 UCSF GRCh37 2 240981526 240981526 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Pri Untested WXS Illumina HiSeq 39 5 35 1 ENST00000408934.1:c.874C>T p.Pro292Ser p.P292S ENST00000408934 NM_001080835.1 292 Ccc/Tcc 0 -RBM19 UCSF GRCh37 12 114282578 114282578 + synonymous_variant Silent SNP G G A NOVEL P15_Pri Untested WXS Illumina HiSeq 53 7 40 1 ENST00000545145.2:c.2680C>T p.Leu894= p.L894= ENST00000545145 NM_001146699.1 894 Ctg/Ttg 0 -SAMD9L UCSF GRCh37 7 92763519 92763519 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 195 40 144 0 ENST00000318238.4:c.1766G>A p.Arg589Gln p.R589Q ENST00000318238 NM_152703.2 589 cGa/cAa 0 -SIGLEC1 UCSF GRCh37 20 3675563 3675563 + stop_gained Nonsense_Mutation SNP C C T NOVEL P15_Pri somatic WXS Sanger Illumina HiSeq 41 20 33 0 ENST00000344754.4:c.2691G>A p.Trp897Ter p.W897* ENST00000344754 NM_023068.3 897 tgG/tgA 0 -SLCO1B3 UCSF GRCh37 12 21028267 21028267 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P15_Pri Untested WXS Illumina HiSeq 6 0 ENST00000381545.3:c.833delT p.Phe278SerfsTer22 p.F278Sfs*22 ENST00000381545 NM_019844.3 276 Ttt/tt 0 -SMARCA4 UCSF GRCh37 19 11144027 11144027 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Pri somatic WXS Sanger Illumina HiSeq 88 24 67 0 ENST00000344626.4:c.3608G>A p.Arg1203His p.R1203H ENST00000344626 NM_003072.3 1203 cGc/cAc 0 -SNX29 UCSF GRCh37 16 12162987 12162987 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P15_Pri Untested WXS Illumina HiSeq 119 22 84 0 ENST00000566228.1:c.1317C>T p.Tyr439= p.Y439= ENST00000566228 NM_032167.3 439 taC/taT 0 -ACPT UCSF GRCh37 19 51297752 51297752 + synonymous_variant Silent SNP C C A NOVEL P15_Rec Untested WXS Illumina HiSeq 22 3 46 0 ENST00000270593.1:c.900C>A p.Gly300= p.G300= ENST00000270593 NM_033068.2 300 ggC/ggA 0 -AKAP1 UCSF GRCh37 17 55195794 55195794 + synonymous_variant Silent SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 26 28 65 0 ENST00000337714.3:c.2553G>A p.Gly851= p.G851= ENST00000337714 NM_003488.3 851 ggG/ggA 0 -AQP2 UCSF GRCh37 12 50344806 50344806 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 22 21 45 0 ENST00000199280.3:c.193G>A p.Ala65Thr p.A65T ENST00000199280 NM_000486.5 65 Gcc/Acc 0 -ATP2A3 UCSF GRCh37 17 3848013 3848013 + synonymous_variant Silent SNP A A C 1000g2010nov_all_0.333,1000g2011may_all_0.4766,snp132_rs1800911 P15_Rec Untested WXS Illumina HiSeq 9 5 12 0 ENST00000359983.3:c.1272T>G p.Ala424= p.A424= ENST00000359983 424 gcT/gcG 0 -C7orf41 UCSF GRCh37 7 30174773 30174773 + synonymous_variant Silent SNP C C G 1000g2010nov_all_0.152,1000g2011may_all_0.1580,snp132_rs73689406 P15_Rec Untested WXS Illumina HiSeq 8 7 9 0 ENST00000324453.8:c.21C>G p.Ala7= p.A7= ENST00000324453 NM_152793.2 7 gcC/gcG 0 -CANX UCSF GRCh37 5 179143236 179143236 + synonymous_variant Silent SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 61 24 77 0 ENST00000247461.4:c.852C>T p.Pro284= p.P284= ENST00000247461 NM_001746.3 284 ccC/ccT 0 -CCDC11 UCSF GRCh37 18 47753978 47753978 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 84 44 79 0 ENST00000398545.4:c.1318C>T p.Arg440Cys p.R440C ENST00000398545 NM_145020.3 440 Cgc/Tgc 0 -CCDC150 UCSF GRCh37 2 197537116 197537116 + synonymous_variant Silent SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 70 35 96 0 ENST00000389175.4:c.984G>A p.Leu328= p.L328= ENST00000389175 NM_001080539.1 328 ttG/ttA 0 -CCIN UCSF GRCh37 9 36170747 36170747 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0023 P15_Rec Untested WXS Illumina HiSeq 73 57 68 0 ENST00000335119.2:c.1248C>T p.Thr416= p.T416= ENST00000335119 NM_005893.2 416 acC/acT 0 -CIC UCSF GRCh37 19 42799063 42799065 + inframe_deletion In_Frame_Del DEL AGA AGA - NOVEL P15_Rec somatic WXS Sanger Illumina HiSeq 16 0 ENST00000575354.2:c.4550_4552del p.Lys1517del p.K1517del ENST00000575354 NM_015125.3 1516 cAGAag/cag 0 -CLEC18A UCSF GRCh37 16 69988359 69988359 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.049,1000g2011may_all_0.1101,snp132_rs2549095 P15_Rec Untested WXS Illumina HiSeq 38 5 23 1 ENST00000288040.6:c.339A>G p.Leu113= p.L113= ENST00000288040 NM_001136214.2 113 ctA/ctG 0 -COL12A1 UCSF GRCh37 6 75892915 75892915 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 87 60 103 0 ENST00000322507.8:c.1742G>A p.Arg581His p.R581H ENST00000322507 NM_004370.5 581 cGc/cAc 0 -DNAH17 UCSF GRCh37 17 76481017 76481017 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 37 20 39 0 ENST00000389840.5:c.7540G>A p.Glu2514Lys p.E2514K ENST00000389840 2514 Gag/Aag 0 -ERBB4 UCSF GRCh37 2 212248672 212248672 + missense_variant Missense_Mutation SNP C C G NOVEL P15_Rec Untested WXS Illumina HiSeq 86 66 126 0 ENST00000342788.4:c.3595G>C p.Glu1199Gln p.E1199Q ENST00000342788 NM_005235.2 1199 Gag/Cag 0 -GIMAP7 UCSF GRCh37 7 150217197 150217197 + missense_variant Missense_Mutation SNP G G T NOVEL P15_Rec Untested WXS Illumina HiSeq 74 38 111 0 ENST00000313543.4:c.135G>T p.Lys45Asn p.K45N ENST00000313543 NM_153236.3 45 aaG/aaT 0 -HERC1 UCSF GRCh37 15 63954081 63954081 + missense_variant Missense_Mutation SNP T T C NOVEL P15_Rec Untested WXS Illumina HiSeq 154 63 133 0 ENST00000443617.2:c.9041A>G p.Asn3014Ser p.N3014S ENST00000443617 NM_003922.3 3014 aAt/aGt 0 -HIST1H4D UCSF GRCh37 6 26189132 26189132 + missense_variant Missense_Mutation SNP A A T NOVEL P15_Rec Untested WXS Illumina HiSeq 59 45 75 0 ENST00000340756.2:c.173T>A p.Val58Glu p.V58E ENST00000340756 NM_003539.3 58 gTg/gAg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 52 37 57 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGSF3 UCSF GRCh37 1 117146592 117146592 + missense_variant Missense_Mutation SNP C C G NOVEL P15_Rec Untested WXS Illumina HiSeq 25 4 50 0 ENST00000369483.1:c.1338G>C p.Glu446Asp p.E446D ENST00000369483 NM_001542.3 446 gaG/gaC 0 -KCMT-ND2 UCSF GRCh37 7 119915468 119915468 + missense_variant Missense_Mutation SNP T T C NOVEL P15_Rec Untested WXS Illumina HiSeq 52 23 66 0 ENST00000331113.4:c.782T>C p.Val261Ala p.V261A ENST00000331113 NM_012281.2 261 gTc/gCc 0 -MLL3 UCSF GRCh37 7 151935894 151935894 + missense_variant Missense_Mutation SNP A A C NOVEL P15_Rec Untested WXS Illumina HiSeq 178 20 187 0 ENST00000262189.6:c.2550T>G p.His850Gln p.H850Q ENST00000262189 NM_170606.2 850 caT/caG 0 -NES UCSF GRCh37 1 156641394 156641394 + synonymous_variant Silent SNP A A C NOVEL P15_Rec Untested WXS Illumina HiSeq 94 51 121 0 ENST00000368223.3:c.2586T>G p.Pro862= p.P862= ENST00000368223 NM_006617.1 862 ccT/ccG 0 -PCDHB13 UCSF GRCh37 5 140595477 140595477 + synonymous_variant Silent SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 24 12 60 1 ENST00000341948.4:c.1782C>T p.Gly594= p.G594= ENST00000341948 NM_018933.2 594 ggC/ggT 0 -PLA2G4A UCSF GRCh37 1 186948489 186948489 + missense_variant Missense_Mutation SNP T T C NOVEL P15_Rec Untested WXS Illumina HiSeq 67 42 101 0 ENST00000367466.3:c.2003T>C p.Phe668Ser p.F668S ENST00000367466 NM_024420.2 668 tTt/tCt 0 -PLS3 UCSF GRCh37 X 114869338 114869338 + missense_variant Missense_Mutation SNP T T C NOVEL P15_Rec Untested WXS Illumina HiSeq 120 42 110 0 ENST00000420625.2:c.728T>C p.Ile243Thr p.I243T ENST00000420625 NM_001136025.3 243 aTt/aCt 0 -PLXNA1 UCSF GRCh37 3 126751380 126751380 + missense_variant Missense_Mutation SNP C C A NOVEL P15_Rec Untested WXS Illumina HiSeq 35 27 45 0 ENST00000393409.2:c.5382C>A p.Asp1794Glu p.D1794E ENST00000393409 NM_032242.3 1794 gaC/gaA 0 -PRG4 UCSF GRCh37 1 186282886 186282886 + synonymous_variant Silent SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 74 73 115 0 ENST00000445192.2:c.4191C>T p.Ser1397= p.S1397= ENST00000445192 NM_005807.3 1397 tcC/tcT 0 -PSG11 UCSF GRCh37 19 43529085 43529085 + missense_variant Missense_Mutation SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 53 20 112 0 ENST00000401740.1:c.188C>T p.Thr63Ile p.T63I ENST00000401740 63 aCt/aTt 0 -RBM19 UCSF GRCh37 12 114282578 114282578 + synonymous_variant Silent SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 22 20 40 1 ENST00000545145.2:c.2680C>T p.Leu894= p.L894= ENST00000545145 NM_001146699.1 894 Ctg/Ttg 0 -SAMD9L UCSF GRCh37 7 92763519 92763519 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 84 69 144 0 ENST00000318238.4:c.1766G>A p.Arg589Gln p.R589Q ENST00000318238 NM_152703.2 589 cGa/cAa 0 -SIGLEC1 UCSF GRCh37 20 3675563 3675563 + stop_gained Nonsense_Mutation SNP C C T NOVEL P15_Rec somatic WXS Sanger Illumina HiSeq 21 17 33 0 ENST00000344754.4:c.2691G>A p.Trp897Ter p.W897* ENST00000344754 NM_023068.3 897 tgG/tgA 0 -SORD UCSF GRCh37 15 45361180 45361180 + missense_variant Missense_Mutation SNP A A T 1000g2010nov_all_0.196,1000g2011may_all_0.4705,snp132_rs1042079 P15_Rec Untested WXS Illumina HiSeq 19 5 32 1 ENST00000267814.9:c.716A>T p.Gln239Leu p.Q239L ENST00000267814 NM_003104.5 239 cAg/cTg 0 -TMEM132A UCSF GRCh37 11 60699305 60699305 + stop_gained Nonsense_Mutation SNP G G A NOVEL P15_Rec Untested WXS Illumina HiSeq 81 11 66 0 ENST00000005286.4:c.1164G>A p.Trp388Ter p.W388* ENST00000005286 NM_178031.2 388 tgG/tgA 0 -TMTC2 UCSF GRCh37 12 83251171 83251171 + missense_variant Missense_Mutation SNP A A G NOVEL P15_Rec Untested WXS Illumina HiSeq 47 36 68 0 ENST00000321196.3:c.466A>G p.Ile156Val p.I156V ENST00000321196 NM_152588.1 156 Att/Gtt 0 -VAV2 UCSF GRCh37 9 136662918 136662918 + missense_variant Missense_Mutation SNP C C T NOVEL P15_Rec Untested WXS Illumina HiSeq 16 8 36 0 ENST00000371850.3:c.850G>A p.Gly284Arg p.G284R ENST00000371850 NM_001134398.1 284 Ggg/Agg 0 -ANKRD30B UCSF GRCh37 18 14852419 14852419 + missense_variant Missense_Mutation SNP A A T NOVEL P16_Pri Untested WXS Illumina HiSeq 35 21 102 0 ENST00000358984.4:c.4119A>T p.Glu1373Asp p.E1373D ENST00000358984 NM_001145029.1 1373 gaA/gaT 0 -ATM UCSF GRCh37 11 108159724 108159724 + missense_variant Missense_Mutation SNP A A C NOVEL P16_Pri Untested WXS Illumina HiSeq 99 12 150 0 ENST00000278616.4:c.4130A>C p.Asn1377Thr p.N1377T ENST00000278616 NM_000051.3 1377 aAt/aCt 0 -ATRX UCSF GRCh37 X 76939906 76939907 + frameshift_variant Frame_Shift_Ins INS - - TTACATGCAGTGACCAAGTCCAACAAAGGCTCTGGGTGACAAATGTAGC NOVEL P16_Pri Untested WXS Illumina HiSeq 10 0 ENST00000373344.5:c.841_842insGCTACATTTGTCACCCAGAGCCTTTGTTGGACTTGGTCACTGCATGTAA p.Asn281SerfsTer21 p.N281Sfs*21 ENST00000373344 NM_000489.3 281 aac/aGCTACATTTGTCACCCAGAGCCTTTGTTGGACTTGGTCACTGCATGTAAac 0 -BLMH UCSF GRCh37 17 28614922 28614922 + missense_variant Missense_Mutation SNP G G C NOVEL P16_Pri Untested WXS Illumina HiSeq 77 21 127 0 ENST00000261714.6:c.365C>G p.Ala122Gly p.A122G ENST00000261714 NM_000386.3 122 gCc/gGc 0 -LCOR UCSF GRCh37 10 98744566 98744566 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 52 44 165 0 ENST00000286067.2:c.3419C>T p.Thr1140Met p.T1140M ENST00000286067 NM_015652.2 1140 aCg/aTg 0 -LIAT1 UCSF GRCh37 17 263652 263652 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.1126,snp132_rs111543298 P16_Pri Untested WXS Illumina HiSeq 40 7 56 1 ENST00000360127.6:c.1018G>A p.Glu340Lys p.E340K ENST00000360127 NM_001013672.4 340 Gag/Aag 0 -CRIPAK UCSF GRCh37 4 1388817 1388817 + missense_variant Missense_Mutation SNP C C G 1000g2011may_all_0.1284 P16_Pri Untested WXS Illumina HiSeq 90 11 25 1 ENST00000324803.4:c.518C>G p.Pro173Arg p.P173R ENST00000324803 NM_175918.3 173 cCa/cGa 0 -CRIPAK UCSF GRCh37 4 1388819 1388819 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 93 13 29 1 ENST00000324803.4:c.520T>C p.Cys174Arg p.C174R ENST00000324803 NM_175918.3 174 Tgt/Cgt 0 -CT47B1 UCSF GRCh37 X 120009392 120009392 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 31 6 9 0 ENST00000371311.3:c.133A>G p.Met45Val p.M45V ENST00000371311 NM_001145718.1 45 Atg/Gtg 0 -CTPS2 UCSF GRCh37 X 16627738 16627738 + synonymous_variant Silent SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 44 36 100 0 ENST00000443824.1:c.1617G>A p.Pro539= p.P539= ENST00000443824 NM_001144002.1 539 ccG/ccA 0 -CYP2D6 UCSF GRCh37 22 42524214 42524215 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P16_Pri Untested WXS Illumina HiSeq 6 0 ENST00000360608.5:c.805dup p.Arg269ProfsTer5 p.R269Pfs*5 ENST00000360608 NM_000106.5 268 -/C 0 -DIP2A UCSF GRCh37 21 47924280 47924280 + missense_variant Missense_Mutation SNP A A C NOVEL P16_Pri Untested WXS Illumina HiSeq 86 58 203 0 ENST00000417564.2:c.662A>C p.His221Pro p.H221P ENST00000417564 221 cAt/cCt 0 -EPB41L4B UCSF GRCh37 9 111979226 111979226 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 50 44 129 0 ENST00000374566.3:c.1609A>G p.Asn537Asp p.N537D ENST00000374566 NM_019114.3 537 Aac/Gac 0 -EPPK1 UCSF GRCh37 8 144940543 144940543 + synonymous_variant Silent SNP G G A NOVEL P16_Pri Untested WXS Illumina HiSeq 135 16 10 0 ENST00000525985.1:c.6879C>T p.Gly2293= p.G2293= ENST00000525985 NM_031308.2 2293 ggC/ggT 0 -GATA3 UCSF GRCh37 10 8115916 8115916 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 58 9 123 0 ENST00000346208.3:c.1262C>T p.Pro421Leu p.P421L ENST00000346208 421 cCg/cTg 0 -GBA3 UCSF GRCh37 4 22749378 22749378 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 93 11 235 0 ENST00000508166.1:c.746T>C p.Phe249Ser p.F249S ENST00000508166 NM_020973.4 249 tTc/tCc 0 -HLA-C UCSF GRCh37 6 31239602 31239602 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.030,1000g2011may_all_0.1058,snp132_rs1050441 P16_Pri Untested WXS Illumina HiSeq 14 3 9 0 ENST00000376228.5:c.117C>T p.Pro39= p.P39= ENST00000376228 NM_002117.5 39 ccC/ccT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 54 32 148 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KIAA0319 UCSF GRCh37 6 24581174 24581174 + missense_variant Missense_Mutation SNP A A G NOVEL P16_Pri Untested WXS Illumina HiSeq 42 34 214 0 ENST00000378214.3:c.1259T>C p.Val420Ala p.V420A ENST00000378214 NM_014809.3 420 gTc/gCc 0 -KIAA1024 UCSF GRCh37 15 79748599 79748599 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Pri Untested WXS Illumina HiSeq 65 9 124 0 ENST00000305428.3:c.110G>A p.Arg37Gln p.R37Q ENST00000305428 NM_015206.2 37 cGg/cAg 0 -LARP7 UCSF GRCh37 4 113575231 113575231 + synonymous_variant Silent SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 51 33 114 0 ENST00000509061.1:c.1605C>T p.His535= p.H535= ENST00000509061 NM_001267039.1 535 caC/caT 0 -LRCH4 UCSF GRCh37 7 100179740 100179740 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 20 19 48 0 ENST00000310300.6:c.416G>A p.Arg139Lys p.R139K ENST00000310300 NM_002319.3 139 aGg/aAg 0 -MATN3 UCSF GRCh37 2 20205936 20205936 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Pri Untested WXS Illumina HiSeq 64 52 153 0 ENST00000407540.3:c.359C>T p.Thr120Met p.T120M ENST00000407540 NM_002381.4 120 aCg/aTg 0 -MYCBP2 UCSF GRCh37 13 77844582 77844582 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 46 31 140 0 ENST00000544440.2:c.923A>G p.Lys308Arg p.K308R ENST00000544440 308 aAg/aGg 0 -PGBD1 UCSF GRCh37 6 28269997 28269997 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 41 40 123 0 ENST00000405948.2:c.2366C>T p.Pro789Leu p.P789L ENST00000405948 NM_001184743.1 789 cCc/cTc 0 -PLD2 UCSF GRCh37 17 4722104 4722104 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Pri Untested WXS Illumina HiSeq 50 6 66 0 ENST00000263088.6:c.2159G>A p.Arg720His p.R720H ENST00000263088 NM_001243108.1 720 cGc/cAc 0 -RGS6 UCSF GRCh37 14 72818887 72818887 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Pri Untested WXS Illumina HiSeq 35 9 60 0 ENST00000553525.1:c.169C>T p.Pro57Ser p.P57S ENST00000553525 NM_001204424.1 57 Ccc/Tcc 0 -SCN9A UCSF GRCh37 2 167137077 167137077 + synonymous_variant Silent SNP T T A NOVEL P16_Pri Untested WXS Illumina HiSeq 70 9 132 0 ENST00000409672.1:c.2100A>T p.Pro700= p.P700= ENST00000409672 NM_002977.3 700 ccA/ccT 0 -SLC29A4 UCSF GRCh37 7 5340228 5340228 + missense_variant Missense_Mutation SNP A A C 1000g2010nov_all_0.042 P16_Pri Untested WXS Illumina HiSeq 47 6 35 1 ENST00000396872.3:c.1385A>C p.Tyr462Ser p.Y462S ENST00000396872 462 tAc/tCc 0 -SLC29A4 UCSF GRCh37 7 5340256 5340256 + synonymous_variant Silent SNP G G A NOVEL P16_Pri Untested WXS Illumina HiSeq 34 6 33 1 ENST00000396872.3:c.1413G>A p.Ala471= p.A471= ENST00000396872 471 gcG/gcA 0 -SMARCA4 UCSF GRCh37 19 11123695 11123695 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Pri somatic WXS Sanger Illumina HiSeq 38 9 81 0 ENST00000344626.4:c.2345G>A p.Gly782Asp p.G782D ENST00000344626 NM_003072.3 782 gGc/gAc 0 -TBC1D9 UCSF GRCh37 4 141578740 141578740 + synonymous_variant Silent SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 88 25 257 0 ENST00000442267.2:c.2148A>G p.Ala716= p.A716= ENST00000442267 NM_015130.2 716 gcA/gcG 0 -TH1L UCSF GRCh37 20 57565028 57565028 + missense_variant Missense_Mutation SNP G G C NOVEL P16_Pri Untested WXS Illumina HiSeq 20 27 63 0 ENST00000602795.1:c.827G>C p.Arg276Pro p.R276P ENST00000602795 NM_198976.2 276 cGc/cCc 0 -TP53 UCSF GRCh37 17 7578535 7578535 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Pri Untested WXS Illumina HiSeq 3 39 44 0 ENST00000269305.4:c.395A>G p.Lys132Arg p.K132R ENST00000269305 NM_001126112.2 132 aAg/aGg 0 -TPSD1 UCSF GRCh37 16 1306346 1306346 + missense_variant Missense_Mutation SNP C C G snp132_rs3865205 P16_Pri Untested WXS Illumina HiSeq 27 9 13 0 ENST00000211076.3:c.65C>G p.Pro22Arg p.P22R ENST00000211076 NM_012217.2 22 cCg/cGg 0 -ZNF595 UCSF GRCh37 4 85996 85997 + non_coding_transcript_exon_variant RNA INS - - A NOVEL P16_Pri Untested WXS Illumina HiSeq 6 0 ENST00000380882.5:n.377dup *126* ENST00000380882 0 -ABR UCSF GRCh37 17 953786 953786 + synonymous_variant Silent SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 28 11 61 0 ENST00000302538.5:c.1650G>A p.Lys550= p.K550= ENST00000302538 NM_021962.3 550 aaG/aaA 0 -ANKRD30B UCSF GRCh37 18 14852419 14852419 + missense_variant Missense_Mutation SNP A A T NOVEL P16_Rec Untested WXS Illumina HiSeq 44 22 102 0 ENST00000358984.4:c.4119A>T p.Glu1373Asp p.E1373D ENST00000358984 NM_001145029.1 1373 gaA/gaT 0 -ATRX UCSF GRCh37 X 76939906 76939907 + frameshift_variant Frame_Shift_Ins INS - - TTACATGCAGTGACCAAGTCCAACAAAGGCTCTGGGTGACAAATGTAGC NOVEL P16_Rec Untested WXS Illumina HiSeq 6 0 ENST00000373344.5:c.841_842insGCTACATTTGTCACCCAGAGCCTTTGTTGGACTTGGTCACTGCATGTAA p.Asn281SerfsTer21 p.N281Sfs*21 ENST00000373344 NM_000489.3 281 aac/aGCTACATTTGTCACCCAGAGCCTTTGTTGGACTTGGTCACTGCATGTAAac 0 -LCOR UCSF GRCh37 10 98744566 98744566 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 58 29 165 0 ENST00000286067.2:c.3419C>T p.Thr1140Met p.T1140M ENST00000286067 NM_015652.2 1140 aCg/aTg 0 -CALN1 UCSF GRCh37 7 71252852 71252852 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Rec Untested WXS Illumina HiSeq 29 19 80 0 ENST00000395275.2:c.694C>T p.Arg232Trp p.R232W ENST00000395275 NM_031468.3 232 Cgg/Tgg 0 -COL6A3 UCSF GRCh37 2 238289831 238289831 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 76 12 138 0 ENST00000295550.4:c.1624G>A p.Gly542Ser p.G542S ENST00000295550 NM_004369.3 542 Ggc/Agc 0 -CRIPAK UCSF GRCh37 4 1388817 1388817 + missense_variant Missense_Mutation SNP C C G 1000g2011may_all_0.1284 P16_Rec Untested WXS Illumina HiSeq 58 16 25 1 ENST00000324803.4:c.518C>G p.Pro173Arg p.P173R ENST00000324803 NM_175918.3 173 cCa/cGa 0 -CRIPAK UCSF GRCh37 4 1388819 1388819 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Rec Untested WXS Illumina HiSeq 58 16 29 1 ENST00000324803.4:c.520T>C p.Cys174Arg p.C174R ENST00000324803 NM_175918.3 174 Tgt/Cgt 0 -CTPS2 UCSF GRCh37 X 16627738 16627738 + synonymous_variant Silent SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 45 31 100 0 ENST00000443824.1:c.1617G>A p.Pro539= p.P539= ENST00000443824 NM_001144002.1 539 ccG/ccA 0 -CYP2D6 UCSF GRCh37 22 42524214 42524215 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P16_Rec Untested WXS Illumina HiSeq 9 0 ENST00000360608.5:c.805dup p.Arg269ProfsTer5 p.R269Pfs*5 ENST00000360608 NM_000106.5 268 -/C 0 -DIP2A UCSF GRCh37 21 47924280 47924280 + missense_variant Missense_Mutation SNP A A C NOVEL P16_Rec Untested WXS Illumina HiSeq 84 62 203 0 ENST00000417564.2:c.662A>C p.His221Pro p.H221P ENST00000417564 221 cAt/cCt 0 -DMD UCSF GRCh37 X 31792227 31792227 + synonymous_variant Silent SNP G G A NOVEL P16_Rec Untested WXS Illumina HiSeq 75 15 128 0 ENST00000357033.4:c.7392C>T p.Ser2464= p.S2464= ENST00000357033 NM_004007.2 2464 tcC/tcT 0 -DUX2 UCSF GRCh37 4 190989668 190989668 + non_coding_transcript_exon_variant RNA SNP C C G 1000g2010nov_all_0.054 P16_Rec Untested WXS Illumina HiSeq 63 8 40 1 ENST00000536428.1:n.873C>G *291* ENST00000536428 0 -EPB41L4B UCSF GRCh37 9 111979226 111979226 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Rec Untested WXS Illumina HiSeq 60 41 129 0 ENST00000374566.3:c.1609A>G p.Asn537Asp p.N537D ENST00000374566 NM_019114.3 537 Aac/Gac 0 -EPPK1 UCSF GRCh37 8 144940543 144940543 + synonymous_variant Silent SNP G G A NOVEL P16_Rec Untested WXS Illumina HiSeq 46 7 10 0 ENST00000525985.1:c.6879C>T p.Gly2293= p.G2293= ENST00000525985 NM_031308.2 2293 ggC/ggT 0 -FSCB UCSF GRCh37 14 44974261 44974261 + missense_variant Missense_Mutation SNP C C A NOVEL P16_Rec Untested WXS Illumina HiSeq 14 4 51 1 ENST00000340446.4:c.1930G>T p.Ala644Ser p.A644S ENST00000340446 NM_032135.3 644 Gct/Tct 0 -GBP4 UCSF GRCh37 1 89651065 89651065 + missense_variant Missense_Mutation SNP T T A NOVEL P16_Rec Untested WXS Illumina HiSeq 96 37 176 0 ENST00000355754.6:c.1795A>T p.Ser599Cys p.S599C ENST00000355754 NM_052941.4 599 Agc/Tgc 0 -HIRIP3 UCSF GRCh37 16 30006689 30006689 + missense_variant Missense_Mutation SNP A A C NOVEL P16_Rec Untested WXS Illumina HiSeq 21 6 25 2 ENST00000279392.3:c.161T>G p.Val54Gly p.V54G ENST00000279392 NM_003609.4 54 gTg/gGg 0 -HLA-B UCSF GRCh37 6 31324104 31324104 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.092,1000g2011may_all_0.1271,snp132_rs17839985 P16_Rec Untested WXS Illumina HiSeq 18 5 26 1 ENST00000412585.2:c.459C>T p.Asp153= p.D153= ENST00000412585 NM_005514.6 153 gaC/gaT 0 -HLA-C UCSF GRCh37 6 31239602 31239602 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.030,1000g2011may_all_0.1058,snp132_rs1050441 P16_Rec Untested WXS Illumina HiSeq 8 7 9 0 ENST00000376228.5:c.117C>T p.Pro39= p.P39= ENST00000376228 NM_002117.5 39 ccC/ccT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 52 29 148 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LARP7 UCSF GRCh37 4 113575231 113575231 + synonymous_variant Silent SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 65 41 114 0 ENST00000509061.1:c.1605C>T p.His535= p.H535= ENST00000509061 NM_001267039.1 535 caC/caT 0 -LRCH4 UCSF GRCh37 7 100179740 100179740 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 20 18 48 0 ENST00000310300.6:c.416G>A p.Arg139Lys p.R139K ENST00000310300 NM_002319.3 139 aGg/aAg 0 -MATN3 UCSF GRCh37 2 20205936 20205936 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Rec Untested WXS Illumina HiSeq 64 48 153 0 ENST00000407540.3:c.359C>T p.Thr120Met p.T120M ENST00000407540 NM_002381.4 120 aCg/aTg 0 -MGAT5 UCSF GRCh37 2 135185961 135185961 + missense_variant Missense_Mutation SNP T T G NOVEL P16_Rec Untested WXS Illumina HiSeq 49 23 120 0 ENST00000409645.1:c.1820T>G p.Phe607Cys p.F607C ENST00000409645 607 tTt/tGt 0 -MS4A6A UCSF GRCh37 11 59949075 59949075 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0028,snp132_rs113133013 P16_Rec Untested WXS Illumina HiSeq 81 46 151 0 ENST00000412309.2:c.210C>T p.His70= p.H70= ENST00000412309 NM_022349.3 70 caC/caT 0 -MYCBP2 UCSF GRCh37 13 77844582 77844582 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Rec Untested WXS Illumina HiSeq 37 41 140 0 ENST00000544440.2:c.923A>G p.Lys308Arg p.K308R ENST00000544440 308 aAg/aGg 0 -NAV3 UCSF GRCh37 12 78513514 78513514 + missense_variant Missense_Mutation SNP G G C NOVEL P16_Rec Untested WXS Illumina HiSeq 64 31 129 0 ENST00000536525.2:c.3538G>C p.Glu1180Gln p.E1180Q ENST00000536525 NM_014903.4 1180 Gaa/Caa 0 -NBPF3 UCSF GRCh37 1 21806606 21806606 + missense_variant Missense_Mutation SNP T T G NOVEL P16_Rec Untested WXS Illumina HiSeq 68 8 138 1 ENST00000318249.5:c.1271T>G p.Phe424Cys p.F424C ENST00000318249 NM_032264.4 424 tTt/tGt 0 -ODZ1 UCSF GRCh37 X 124097540 124097540 + synonymous_variant Silent SNP T T A NOVEL P16_Rec Untested WXS Illumina HiSeq 152 18 247 0 ENST00000422452.2:c.63A>T p.Leu21= p.L21= ENST00000422452 NM_001163279.1 21 ctA/ctT 0 -PARP3 UCSF GRCh37 3 51979175 51979175 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Rec Untested WXS Illumina HiSeq 38 7 97 0 ENST00000398755.3:c.817G>A p.Gly273Ser p.G273S ENST00000398755 273 Ggc/Agc 0 -PGBD1 UCSF GRCh37 6 28269997 28269997 + missense_variant Missense_Mutation SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 54 42 123 0 ENST00000405948.2:c.2366C>T p.Pro789Leu p.P789L ENST00000405948 NM_001184743.1 789 cCc/cTc 0 -PLEKHG3 UCSF GRCh37 14 65208349 65208349 + missense_variant Missense_Mutation SNP A A G NOVEL P16_Rec Untested WXS Illumina HiSeq 47 16 95 0 ENST00000247226.7:c.1946A>G p.Lys649Arg p.K649R ENST00000247226 NM_015549.1 649 aAg/aGg 0 -PLXNA3 UCSF GRCh37 X 153698095 153698095 + missense_variant Missense_Mutation SNP C C A NOVEL P16_Rec Untested WXS Illumina HiSeq 25 7 61 0 ENST00000369682.3:c.4763C>A p.Ser1588Tyr p.S1588Y ENST00000369682 NM_017514.3 1588 tCc/tAc 0 -PTPRK UCSF GRCh37 6 128385918 128385918 + missense_variant Missense_Mutation SNP G G A NOVEL P16_Rec Untested WXS Illumina HiSeq 71 17 99 0 ENST00000368213.5:c.2179C>T p.Arg727Cys p.R727C ENST00000368213 NM_001135648.1 727 Cgc/Tgc 0 -SLC39A12 UCSF GRCh37 10 18292136 18292136 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Rec Untested WXS Illumina HiSeq 131 35 172 0 ENST00000377369.2:c.1796T>C p.Met599Thr p.M599T ENST00000377369 NM_001145195.1 599 aTg/aCg 0 -TH1L UCSF GRCh37 20 57565028 57565028 + missense_variant Missense_Mutation SNP G G C NOVEL P16_Rec Untested WXS Illumina HiSeq 17 16 63 0 ENST00000602795.1:c.827G>C p.Arg276Pro p.R276P ENST00000602795 NM_198976.2 276 cGc/cCc 0 -TP53 UCSF GRCh37 17 7578535 7578535 + missense_variant Missense_Mutation SNP T T C NOVEL P16_Rec Untested WXS Illumina HiSeq 6 25 44 0 ENST00000269305.4:c.395A>G p.Lys132Arg p.K132R ENST00000269305 NM_001126112.2 132 aAg/aGg 0 -TPSD1 UCSF GRCh37 16 1306346 1306346 + missense_variant Missense_Mutation SNP C C G snp132_rs3865205 P16_Rec Untested WXS Illumina HiSeq 19 14 13 0 ENST00000211076.3:c.65C>G p.Pro22Arg p.P22R ENST00000211076 NM_012217.2 22 cCg/cGg 0 -TSR1 UCSF GRCh37 17 2234404 2234404 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 78 30 124 0 ENST00000301364.5:c.1497-1G>A p.X499_splice ENST00000301364 NM_018128.4 0 -ZCCHC14 UCSF GRCh37 16 87451327 87451327 + synonymous_variant Silent SNP A A C NOVEL P16_Rec Untested WXS Illumina HiSeq 31 8 16 1 ENST00000268616.4:c.711T>G p.Gly237= p.G237= ENST00000268616 NM_015144.2 237 ggT/ggG 0 -ZNF560 UCSF GRCh37 19 9578900 9578900 + synonymous_variant Silent SNP C C T NOVEL P16_Rec Untested WXS Illumina HiSeq 112 16 163 0 ENST00000301480.4:c.723G>A p.Thr241= p.T241= ENST00000301480 NM_152476.2 241 acG/acA 0 -ABCA10 UCSF GRCh37 17 67170804 67170804 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Pri_A somatic WXS Sanger Illumina HiSeq 165 142 240 0 ENST00000269081.4:c.2992A>C p.Ile998Leu p.I998L ENST00000269081 NM_080282.3 998 Att/Ctt 0 -ANKRD33 UCSF GRCh37 12 52283232 52283232 + synonymous_variant Silent SNP C C A NOVEL P17_Pri_A Untested WXS Illumina HiSeq 66 59 119 1 ENST00000301190.6:c.603C>A p.Leu201= p.L201= ENST00000301190 NM_001130015.1 201 ctC/ctA 0 -ATRX UCSF GRCh37 X 76937641 76937645 + frameshift_variant Frame_Shift_Del DEL TTAAT TTAAT - NOVEL P17_Pri_A Untested WXS Illumina HiSeq 105 0 ENST00000373344.5:c.3103_3107del p.Ile1035GlufsTer5 p.I1035Efs*5 ENST00000373344 NM_000489.3 1035 ATTAAg/g 0 -C7orf10 UCSF GRCh37 7 40221586 40221586 + stop_gained Nonsense_Mutation SNP T T G NOVEL P17_Pri_A Untested WXS Illumina HiSeq 67 46 93 0 ENST00000309930.5:c.206T>G p.Leu69Ter p.L69* ENST00000309930 NM_024728.2 69 tTa/tGa 0 -CD24 UCSF GRCh37 Y 21154569 21154569 + non_coding_transcript_exon_variant RNA SNP A A G snp132_rs17855271 P17_Pri_A Untested WXS Illumina HiSeq 20 4 22 1 ENST00000382840.3:n.27T>C *9* ENST00000382840 0 -CD3EAP UCSF GRCh37 19 45911872 45911873 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P17_Pri_A Untested WXS Illumina HiSeq 18 0 ENST00000309424.3:c.653dup p.Asn218LysfsTer58 p.N218Kfs*58 ENST00000309424 NM_012099.1 216 aaa/aAaa 0 -CECR5 UCSF GRCh37 22 17619009 17619009 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Pri_A Untested WXS Illumina HiSeq 78 31 82 0 ENST00000336737.4:c.1174T>C p.Cys392Arg p.C392R ENST00000336737 NM_033070.2 392 Tgc/Cgc 0 -GPR128 UCSF GRCh37 3 100349558 100349558 + missense_variant Missense_Mutation SNP G G C NOVEL P17_Pri_A Untested WXS Illumina HiSeq 68 41 83 0 ENST00000273352.3:c.239G>C p.Cys80Ser p.C80S ENST00000273352 NM_032787.2 80 tGt/tCt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Pri_A Untested WXS Illumina HiSeq 90 69 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LRRC16B UCSF GRCh37 14 24531921 24531921 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Pri_A Untested WXS Illumina HiSeq 46 39 72 0 ENST00000342740.5:c.2572C>T p.Arg858Trp p.R858W ENST00000342740 NM_138360.3 858 Cgg/Tgg 0 -MED20 UCSF GRCh37 6 41875026 41875026 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P17_Pri_A somatic WXS Sanger Illumina HiSeq 59 15 47 0 ENST00000265350.4:c.424-1G>A p.X142_splice ENST00000265350 NM_004275.3 0 -NOTCH4 UCSF GRCh37 6 32170335 32170335 + missense_variant Missense_Mutation SNP G G C NOVEL P17_Pri_A Untested WXS Illumina HiSeq 22 3 33 0 ENST00000375023.3:c.3273C>G p.Cys1091Trp p.C1091W ENST00000375023 NM_004557.3 1091 tgC/tgG 0 -RFX7 UCSF GRCh37 15 56385946 56385946 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Pri_A Untested WXS Illumina HiSeq 171 140 322 0 ENST00000423270.1:c.3980A>G p.Asn1327Ser p.N1327S ENST00000423270 NM_022841.5 1327 aAt/aGt 0 -SLC4A3 UCSF GRCh37 2 220497665 220497665 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Pri_A Untested WXS Illumina HiSeq 49 10 64 0 ENST00000373762.3:c.1292T>C p.Ile431Thr p.I431T ENST00000373762 NM_005070.3 431 aTt/aCt 0 -SOX8 UCSF GRCh37 16 1035205 1035205 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Pri_A somatic WXS Sanger Illumina HiSeq 30 5 28 0 ENST00000293894.3:c.1160A>G p.Gln387Arg p.Q387R ENST00000293894 NM_014587.3 387 cAg/cGg 0 -TMEM131 UCSF GRCh37 2 98388775 98388775 + missense_variant Missense_Mutation SNP G G T NOVEL P17_Pri_A Untested WXS Illumina HiSeq 215 174 334 0 ENST00000186436.5:c.4433C>A p.Thr1478Lys p.T1478K ENST00000186436 NM_015348.1 1478 aCa/aAa 0 -TP53 UCSF GRCh37 17 7578403 7578403 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Pri_A somatic WXS Sanger Illumina HiSeq 17 111 73 0 ENST00000269305.4:c.527G>T p.Cys176Phe p.C176F ENST00000269305 NM_001126112.2 176 tGc/tTc 0 -ZNF628 UCSF GRCh37 19 55993060 55993060 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Pri_A Untested WXS Illumina HiSeq 49 45 63 0 ENST00000598519.1:c.500G>A p.Arg167His p.R167H ENST00000598519 NM_033113.2 167 cGc/cAc 0 -ABCA10 UCSF GRCh37 17 67170804 67170804 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Pri_B somatic WXS Sanger Illumina HiSeq 172 122 240 0 ENST00000269081.4:c.2992A>C p.Ile998Leu p.I998L ENST00000269081 NM_080282.3 998 Att/Ctt 0 -ANKRD33 UCSF GRCh37 12 52283232 52283232 + synonymous_variant Silent SNP C C A NOVEL P17_Pri_B Untested WXS Illumina HiSeq 77 57 119 1 ENST00000301190.6:c.603C>A p.Leu201= p.L201= ENST00000301190 NM_001130015.1 201 ctC/ctA 0 -ATRX UCSF GRCh37 X 76937641 76937645 + frameshift_variant Frame_Shift_Del DEL TTAAT TTAAT - NOVEL P17_Pri_B Untested WXS Illumina HiSeq 107 0 ENST00000373344.5:c.3103_3107del p.Ile1035GlufsTer5 p.I1035Efs*5 ENST00000373344 NM_000489.3 1035 ATTAAg/g 0 -C7orf10 UCSF GRCh37 7 40221586 40221586 + stop_gained Nonsense_Mutation SNP T T G NOVEL P17_Pri_B Untested WXS Illumina HiSeq 54 36 93 0 ENST00000309930.5:c.206T>G p.Leu69Ter p.L69* ENST00000309930 NM_024728.2 69 tTa/tGa 0 -CD3EAP UCSF GRCh37 19 45911872 45911873 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P17_Pri_B Untested WXS Illumina HiSeq 39 0 ENST00000309424.3:c.653dup p.Asn218LysfsTer58 p.N218Kfs*58 ENST00000309424 NM_012099.1 216 aaa/aAaa 0 -CECR5 UCSF GRCh37 22 17619009 17619009 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Pri_B Untested WXS Illumina HiSeq 44 35 82 0 ENST00000336737.4:c.1174T>C p.Cys392Arg p.C392R ENST00000336737 NM_033070.2 392 Tgc/Cgc 0 -GPR128 UCSF GRCh37 3 100349558 100349558 + missense_variant Missense_Mutation SNP G G C NOVEL P17_Pri_B Untested WXS Illumina HiSeq 47 44 83 0 ENST00000273352.3:c.239G>C p.Cys80Ser p.C80S ENST00000273352 NM_032787.2 80 tGt/tCt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Pri_B Untested WXS Illumina HiSeq 52 50 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LRRC16B UCSF GRCh37 14 24531921 24531921 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Pri_B Untested WXS Illumina HiSeq 41 47 72 0 ENST00000342740.5:c.2572C>T p.Arg858Trp p.R858W ENST00000342740 NM_138360.3 858 Cgg/Tgg 0 -RFX7 UCSF GRCh37 15 56385946 56385946 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Pri_B Untested WXS Illumina HiSeq 251 208 322 0 ENST00000423270.1:c.3980A>G p.Asn1327Ser p.N1327S ENST00000423270 NM_022841.5 1327 aAt/aGt 0 -TMEM131 UCSF GRCh37 2 98388775 98388775 + missense_variant Missense_Mutation SNP G G T NOVEL P17_Pri_B Untested WXS Illumina HiSeq 265 193 334 0 ENST00000186436.5:c.4433C>A p.Thr1478Lys p.T1478K ENST00000186436 NM_015348.1 1478 aCa/aAa 0 -TP53 UCSF GRCh37 17 7578403 7578403 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Pri_B somatic WXS Sanger Illumina HiSeq 17 101 73 0 ENST00000269305.4:c.527G>T p.Cys176Phe p.C176F ENST00000269305 NM_001126112.2 176 tGc/tTc 0 -ZNF628 UCSF GRCh37 19 55993060 55993060 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Pri_B Untested WXS Illumina HiSeq 48 33 63 0 ENST00000598519.1:c.500G>A p.Arg167His p.R167H ENST00000598519 NM_033113.2 167 cGc/cAc 0 -ABCA10 UCSF GRCh37 17 67170804 67170804 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Pri_C somatic WXS Sanger Illumina HiSeq 139 115 240 0 ENST00000269081.4:c.2992A>C p.Ile998Leu p.I998L ENST00000269081 NM_080282.3 998 Att/Ctt 0 -ANKRD33 UCSF GRCh37 12 52283232 52283232 + synonymous_variant Silent SNP C C A NOVEL P17_Pri_C Untested WXS Illumina HiSeq 62 57 119 1 ENST00000301190.6:c.603C>A p.Leu201= p.L201= ENST00000301190 NM_001130015.1 201 ctC/ctA 0 -ATRX UCSF GRCh37 X 76937641 76937645 + frameshift_variant Frame_Shift_Del DEL TTAAT TTAAT - NOVEL P17_Pri_C Untested WXS Illumina HiSeq 105 0 ENST00000373344.5:c.3103_3107del p.Ile1035GlufsTer5 p.I1035Efs*5 ENST00000373344 NM_000489.3 1035 ATTAAg/g 0 -C7orf10 UCSF GRCh37 7 40221586 40221586 + stop_gained Nonsense_Mutation SNP T T G NOVEL P17_Pri_C Untested WXS Illumina HiSeq 44 36 93 0 ENST00000309930.5:c.206T>G p.Leu69Ter p.L69* ENST00000309930 NM_024728.2 69 tTa/tGa 0 -CD3EAP UCSF GRCh37 19 45911872 45911873 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P17_Pri_C Untested WXS Illumina HiSeq 24 0 ENST00000309424.3:c.653dup p.Asn218LysfsTer58 p.N218Kfs*58 ENST00000309424 NM_012099.1 216 aaa/aAaa 0 -CECR5 UCSF GRCh37 22 17619009 17619009 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Pri_C Untested WXS Illumina HiSeq 48 35 82 0 ENST00000336737.4:c.1174T>C p.Cys392Arg p.C392R ENST00000336737 NM_033070.2 392 Tgc/Cgc 0 -GPR128 UCSF GRCh37 3 100349558 100349558 + missense_variant Missense_Mutation SNP G G C NOVEL P17_Pri_C Untested WXS Illumina HiSeq 42 26 83 0 ENST00000273352.3:c.239G>C p.Cys80Ser p.C80S ENST00000273352 NM_032787.2 80 tGt/tCt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Pri_C Untested WXS Illumina HiSeq 67 48 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LRRC16B UCSF GRCh37 14 24531921 24531921 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Pri_C Untested WXS Illumina HiSeq 57 45 72 0 ENST00000342740.5:c.2572C>T p.Arg858Trp p.R858W ENST00000342740 NM_138360.3 858 Cgg/Tgg 0 -RFX7 UCSF GRCh37 15 56385946 56385946 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Pri_C Untested WXS Illumina HiSeq 224 175 322 0 ENST00000423270.1:c.3980A>G p.Asn1327Ser p.N1327S ENST00000423270 NM_022841.5 1327 aAt/aGt 0 -TMEM131 UCSF GRCh37 2 98388775 98388775 + missense_variant Missense_Mutation SNP G G T NOVEL P17_Pri_C Untested WXS Illumina HiSeq 276 159 334 0 ENST00000186436.5:c.4433C>A p.Thr1478Lys p.T1478K ENST00000186436 NM_015348.1 1478 aCa/aAa 0 -TP53 UCSF GRCh37 17 7578403 7578403 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Pri_C somatic WXS Sanger Illumina HiSeq 9 105 73 0 ENST00000269305.4:c.527G>T p.Cys176Phe p.C176F ENST00000269305 NM_001126112.2 176 tGc/tTc 0 -ZNF628 UCSF GRCh37 19 55993060 55993060 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Pri_C Untested WXS Illumina HiSeq 48 49 63 0 ENST00000598519.1:c.500G>A p.Arg167His p.R167H ENST00000598519 NM_033113.2 167 cGc/cAc 0 -ABCC9 UCSF GRCh37 12 21954093 21954093 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 133 43 151 0 ENST00000261200.4:c.4535C>T p.Thr1512Met p.T1512M ENST00000261200 NM_020297.2 1512 aCg/aTg 0 -ADAMTSL1 UCSF GRCh37 9 18795416 18795416 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 83 0 ENST00000380548.4:c.3700del p.Ser1234ProfsTer34 p.S1234Pfs*34 ENST00000380548 NM_001040272.5 1233 gaT/ga 0 -APLF UCSF GRCh37 2 68765111 68765111 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 149 22 118 0 ENST00000303795.4:c.912T>C p.Val304= p.V304= ENST00000303795 NM_173545.2 304 gtT/gtC 0 -ARNT UCSF GRCh37 1 150795783 150795783 + missense_variant Missense_Mutation SNP G G T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 222 46 187 0 ENST00000358595.5:c.1281C>A p.Phe427Leu p.F427L ENST00000358595 NM_178427.2 427 ttC/ttA 0 -ATP2B4 UCSF GRCh37 1 203677182 203677182 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 156 119 224 0 ENST00000357681.5:c.1507C>T p.Leu503Phe p.L503F ENST00000357681 NM_001684.4 503 Ctc/Ttc 0 -ATRX UCSF GRCh37 X 76952141 76952148 + frameshift_variant Frame_Shift_Del DEL CAAAGGTT CAAAGGTT - NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 117 0 ENST00000373344.5:c.287_294del p.Lys96ArgfsTer2 p.K96Rfs*2 ENST00000373344 NM_000489.3 96 aAACCTTTG/a 0 -BCL11B UCSF GRCh37 14 99641792 99641792 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 38 9 34 0 ENST00000357195.3:c.1381G>A p.Asp461Asn p.D461N ENST00000357195 NM_138576.2 461 Gac/Aac 0 -BRD4 UCSF GRCh37 19 15354224 15354224 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 6 11 9 0 ENST00000263377.2:c.2656C>T p.Arg886Trp p.R886W ENST00000263377 NM_058243.2 886 Cgg/Tgg 0 -C19orf2 UCSF GRCh37 19 30503247 30503247 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 229 40 210 1 ENST00000542441.2:c.1234T>C p.Ser412Pro p.S412P ENST00000542441 412 Tct/Cct 0 -CARD6 UCSF GRCh37 5 40852331 40852331 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 120 47 138 0 ENST00000254691.5:c.897A>G p.Arg299= p.R299= ENST00000254691 NM_032587.3 299 agA/agG 0 -CDHR3 UCSF GRCh37 7 105662691 105662691 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0014 P17_Rec1_A Untested WXS Illumina HiSeq 317 63 338 0 ENST00000317716.9:c.1873G>A p.Val625Ile p.V625I ENST00000317716 NM_152750.4 625 Gtc/Atc 0 -CHORDC1 UCSF GRCh37 11 89943710 89943710 + missense_variant Missense_Mutation SNP A A C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 126 53 76 0 ENST00000320585.6:c.486T>G p.Cys162Trp p.C162W ENST00000320585 NM_012124.2 162 tgT/tgG 0 -CLTC UCSF GRCh37 17 57758404 57758404 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 229 41 208 0 ENST00000269122.3:c.3051A>G p.Val1017= p.V1017= ENST00000269122 NM_004859.3 1017 gtA/gtG 0 -CRTAP UCSF GRCh37 3 33183903 33183903 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 76 33 128 0 ENST00000320954.6:c.1169A>G p.Tyr390Cys p.Y390C ENST00000320954 NM_006371.4 390 tAt/tGt 0 -CUL4A UCSF GRCh37 13 113889388 113889388 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 130 24 111 0 ENST00000375440.4:c.777T>C p.Tyr259= p.Y259= ENST00000375440 NM_001008895.2 259 taT/taC 0 -DIDO1 UCSF GRCh37 20 61513252 61513252 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 120 98 187 0 ENST00000266070.4:c.4056C>T p.Asp1352= p.D1352= ENST00000266070 NM_033081.2 1352 gaC/gaT 0 -FAT1 UCSF GRCh37 4 187518024 187518024 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0022 P17_Rec1_A somatic WXS Sanger Illumina HiSeq 236 65 285 0 ENST00000441802.2:c.12670G>A p.Ala4224Thr p.A4224T ENST00000441802 NM_005245.3 4224 Gct/Act 0 -FRG1 UCSF GRCh37 4 190878556 190878557 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 8 0 ENST00000226798.4:c.439dup p.Met147AsnfsTer8 p.M147Nfs*8 ENST00000226798 NM_004477.2 146 aaa/aAaa 0 -FRG1 UCSF GRCh37 4 190878542 190878571 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site INS GTTTCACTTAGGGGAAAATGGCTTTGTTGG GTTTCACTTAGGGGAAAATGGCTTTGTTGG TGTTTCACTTAGGGGAAAATGGCTTTGTCGA NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 6 0 ENST00000226798.4:c.433-11_451delinsTGTTTCACTTAGGGGAAAATGGCTTTGTCGA p.X145_splice ENST00000226798 NM_004477.2 0 -GPR142 UCSF GRCh37 17 72363835 72363835 + missense_variant Missense_Mutation SNP G G T NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 96 13 99 0 ENST00000335666.4:c.191G>T p.Gly64Val p.G64V ENST00000335666 NM_181790.1 64 gGa/gTa 0 -HEPH UCSF GRCh37 X 65409555 65409555 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 27 102 100 0 ENST00000519389.1:c.1000C>A p.Pro334Thr p.P334T ENST00000519389 334 Cct/Act 0 -HYAL4 UCSF GRCh37 7 123517035 123517035 + synonymous_variant Silent SNP A A T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 224 48 193 0 ENST00000223026.4:c.1272A>T p.Thr424= p.T424= ENST00000223026 NM_012269.2 424 acA/acT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 99 114 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL23R UCSF GRCh37 1 67724210 67724210 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 261 60 260 0 ENST00000347310.5:c.1289T>C p.Val430Ala p.V430A ENST00000347310 NM_144701.2 430 gTt/gCt 0 -KCNK15 UCSF GRCh37 20 43379023 43379023 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 70 8 60 0 ENST00000372861.3:c.537G>A p.Ser179= p.S179= ENST00000372861 NM_022358.3 179 tcG/tcA 0 -KIAA1383 UCSF GRCh37 1 232941658 232941658 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 31 17 38 0 ENST00000418460.1:c.889T>G p.Ser297Ala p.S297A ENST00000418460 NM_019090.2 297 Tcc/Gcc 0 -MDH1B UCSF GRCh37 2 207621736 207621736 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 206 29 157 0 ENST00000374412.3:c.299C>T p.Thr100Met p.T100M ENST00000374412 NM_001039845.1 100 aCg/aTg 0 -MYO7B UCSF GRCh37 2 128331590 128331590 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 200 40 194 0 ENST00000428314.1:c.688G>A p.Ala230Thr p.A230T ENST00000428314 NM_001080527.1 230 Gcg/Acg 0 -PIK3CA UCSF GRCh37 3 178952085 178952085 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 134 31 156 0 ENST00000263967.3:c.3140A>G p.His1047Arg p.H1047R ENST00000263967 NM_006218.2 1047 cAt/cGt 0 -RAD54B UCSF GRCh37 8 95390425 95390425 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 49 37 71 0 ENST00000336148.5:c.2498G>A p.Gly833Glu p.G833E ENST00000336148 NM_012415.3 833 gGa/gAa 0 -SDAD1 UCSF GRCh37 4 76902575 76902575 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 153 34 100 0 ENST00000356260.5:c.244A>G p.Lys82Glu p.K82E ENST00000356260 NM_018115.2 82 Aaa/Gaa 0 -SHISA9 UCSF GRCh37 16 13010641 13010641 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 176 54 175 0 ENST00000424107.3:c.660C>T p.Asn220= p.N220= ENST00000424107 220 aaC/aaT 0 -SHKBP1 UCSF GRCh37 19 41096697 41096697 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 61 54 94 0 ENST00000291842.5:c.1830G>A p.Pro610= p.P610= ENST00000291842 NM_138392.3 610 ccG/ccA 0 -SLC22A25 UCSF GRCh37 11 62951251 62951251 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 270 106 193 0 ENST00000306494.6:c.869A>G p.Asn290Ser p.N290S ENST00000306494 NM_199352.3 290 aAc/aGc 0 -SPAG17 UCSF GRCh37 1 118584652 118584652 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 140 104 209 0 ENST00000336338.5:c.2828A>G p.Glu943Gly p.E943G ENST00000336338 NM_206996.2 943 gAg/gGg 0 -SPTLC1 UCSF GRCh37 9 94817753 94817753 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 140 20 115 0 ENST00000262554.2:c.714T>C p.Thr238= p.T238= ENST00000262554 NM_001281303.1 238 acT/acC 0 -TMEM63B UCSF GRCh37 6 44122598 44122598 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 56 33 66 0 ENST00000259746.9:c.2477T>C p.Ile826Thr p.I826T ENST00000259746 826 aTa/aCa 0 -TP53 UCSF GRCh37 17 7578550 7578550 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 12 48 42 0 ENST00000269305.4:c.380C>T p.Ser127Phe p.S127F ENST00000269305 NM_001126112.2 127 tCc/tTc 0 -TSHB UCSF GRCh37 1 115576706 115576706 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_A Untested WXS Illumina HiSeq 301 50 282 0 ENST00000256592.1:c.275C>A p.Ala92Asp p.A92D ENST00000256592 NM_000549.4 92 gCt/gAt 0 -ZNF211 UCSF GRCh37 19 58152143 58152143 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_A somatic WXS Sanger Illumina HiSeq 174 33 137 0 ENST00000299871.5:c.484T>C p.Phe162Leu p.F162L ENST00000299871 NM_001265597.1 162 Ttc/Ctc 0 -ABCC9 UCSF GRCh37 12 21954093 21954093 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_B somatic WXS Sanger Illumina HiSeq 91 30 151 0 ENST00000261200.4:c.4535C>T p.Thr1512Met p.T1512M ENST00000261200 NM_020297.2 1512 aCg/aTg 0 -ADAMTS3 UCSF GRCh37 4 73149155 73149155 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 189 54 182 0 ENST00000286657.4:c.3316A>G p.Ile1106Val p.I1106V ENST00000286657 NM_014243.2 1106 Atc/Gtc 0 -ADAMTSL1 UCSF GRCh37 9 18795416 18795416 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 67 0 ENST00000380548.4:c.3700del p.Ser1234ProfsTer34 p.S1234Pfs*34 ENST00000380548 NM_001040272.5 1233 gaT/ga 0 -ASCC2 UCSF GRCh37 22 30198032 30198032 + stop_gained Nonsense_Mutation SNP C C A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 43 7 38 0 ENST00000397771.2:c.1519G>T p.Glu507Ter p.E507* ENST00000397771 507 Gag/Tag 0 -ATP2B4 UCSF GRCh37 1 203677182 203677182 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 186 118 224 0 ENST00000357681.5:c.1507C>T p.Leu503Phe p.L503F ENST00000357681 NM_001684.4 503 Ctc/Ttc 0 -ATRX UCSF GRCh37 X 76952141 76952148 + frameshift_variant Frame_Shift_Del DEL CAAAGGTT CAAAGGTT - NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 70 0 ENST00000373344.5:c.287_294del p.Lys96ArgfsTer2 p.K96Rfs*2 ENST00000373344 NM_000489.3 96 aAACCTTTG/a 0 -AXL UCSF GRCh37 19 41727930 41727930 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_B somatic WXS Sanger Illumina HiSeq 21 6 14 0 ENST00000301178.4:c.555T>C p.Gly185= p.G185= ENST00000301178 NM_021913.4 185 ggT/ggC 0 -BCL11B UCSF GRCh37 14 99641792 99641792 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 44 10 34 0 ENST00000357195.3:c.1381G>A p.Asp461Asn p.D461N ENST00000357195 NM_138576.2 461 Gac/Aac 0 -BRD4 UCSF GRCh37 19 15354224 15354224 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 11 10 9 0 ENST00000263377.2:c.2656C>T p.Arg886Trp p.R886W ENST00000263377 NM_058243.2 886 Cgg/Tgg 0 -BRIP1 UCSF GRCh37 17 59876511 59876511 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 105 19 162 1 ENST00000259008.2:c.1290A>G p.Ile430Met p.I430M ENST00000259008 NM_032043.2 430 atA/atG 0 -CARD6 UCSF GRCh37 5 40852331 40852331 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 72 18 138 0 ENST00000254691.5:c.897A>G p.Arg299= p.R299= ENST00000254691 NM_032587.3 299 agA/agG 0 -CDHR3 UCSF GRCh37 7 105662691 105662691 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0014 P17_Rec1_B Untested WXS Illumina HiSeq 404 119 338 0 ENST00000317716.9:c.1873G>A p.Val625Ile p.V625I ENST00000317716 NM_152750.4 625 Gtc/Atc 0 -CHORDC1 UCSF GRCh37 11 89943710 89943710 + missense_variant Missense_Mutation SNP A A C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 46 22 76 0 ENST00000320585.6:c.486T>G p.Cys162Trp p.C162W ENST00000320585 NM_012124.2 162 tgT/tgG 0 -CRTAP UCSF GRCh37 3 33183903 33183903 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 42 20 128 0 ENST00000320954.6:c.1169A>G p.Tyr390Cys p.Y390C ENST00000320954 NM_006371.4 390 tAt/tGt 0 -DIDO1 UCSF GRCh37 20 61513252 61513252 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 123 96 187 0 ENST00000266070.4:c.4056C>T p.Asp1352= p.D1352= ENST00000266070 NM_033081.2 1352 gaC/gaT 0 -DNM1L UCSF GRCh37 12 32861097 32861097 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 48 14 78 0 ENST00000549701.1:c.308A>G p.Asp103Gly p.D103G ENST00000549701 103 gAt/gGt 0 -ECI2 UCSF GRCh37 6 4133876 4133876 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 183 35 201 0 ENST00000380118.3:c.120G>A p.Gln40= p.Q40= ENST00000380118 40 caG/caA 0 -FANCA UCSF GRCh37 16 89862354 89862354 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 77 25 118 0 ENST00000389301.3:c.966T>C p.His322= p.H322= ENST00000389301 NM_000135.2 322 caT/caC 0 -FAT1 UCSF GRCh37 4 187518024 187518024 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0022 P17_Rec1_B somatic WXS Sanger Illumina HiSeq 295 72 285 0 ENST00000441802.2:c.12670G>A p.Ala4224Thr p.A4224T ENST00000441802 NM_005245.3 4224 Gct/Act 0 -FAT1 UCSF GRCh37 4 187531037 187531037 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 242 53 246 0 ENST00000441802.2:c.9986A>G p.Asn3329Ser p.N3329S ENST00000441802 NM_005245.3 3329 aAc/aGc 0 -FLAD1 UCSF GRCh37 1 154962825 154962825 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 142 30 120 0 ENST00000292180.3:c.1375C>A p.Gln459Lys p.Q459K ENST00000292180 NM_025207.4 459 Cag/Aag 0 -GORAB UCSF GRCh37 1 170521320 170521320 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 121 33 121 0 ENST00000367763.3:c.902T>C p.Val301Ala p.V301A ENST00000367763 NM_152281.2 301 gTa/gCa 0 -HEPH UCSF GRCh37 X 65409555 65409555 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 19 97 100 0 ENST00000519389.1:c.1000C>A p.Pro334Thr p.P334T ENST00000519389 334 Cct/Act 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 75 110 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KAT6B UCSF GRCh37 10 76790463 76790463 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 254 69 210 0 ENST00000287239.4:c.5881A>G p.Met1961Val p.M1961V ENST00000287239 NM_001256468.1 1961 Atg/Gtg 0 -KIAA1383 UCSF GRCh37 1 232941658 232941658 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 29 13 38 0 ENST00000418460.1:c.889T>G p.Ser297Ala p.S297A ENST00000418460 NM_019090.2 297 Tcc/Gcc 0 -MACC1 UCSF GRCh37 7 20199790 20199790 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 86 33 151 0 ENST00000400331.5:c.194A>G p.Asn65Ser p.N65S ENST00000400331 NM_182762.3 65 aAt/aGt 0 -MBD6 UCSF GRCh37 12 57921732 57921732 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 7 0 ENST00000355673.3:c.2345delG p.Gly782GlufsTer13 p.G782Efs*13 ENST00000355673 NM_052897.3 780 Ggg/gg 0 -MYO7B UCSF GRCh37 2 128331590 128331590 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 178 61 194 0 ENST00000428314.1:c.688G>A p.Ala230Thr p.A230T ENST00000428314 NM_001080527.1 230 Gcg/Acg 0 -PIK3CA UCSF GRCh37 3 178952085 178952085 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_B somatic WXS Sanger Illumina HiSeq 77 42 156 0 ENST00000263967.3:c.3140A>G p.His1047Arg p.H1047R ENST00000263967 NM_006218.2 1047 cAt/cGt 0 -PRKCH UCSF GRCh37 14 61788905 61788905 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 50 15 27 1 ENST00000332981.5:c.86T>C p.Leu29Pro p.L29P ENST00000332981 NM_006255.3 29 cTg/cCg 0 -RAD54B UCSF GRCh37 8 95390425 95390425 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 34 27 71 0 ENST00000336148.5:c.2498G>A p.Gly833Glu p.G833E ENST00000336148 NM_012415.3 833 gGa/gAa 0 -RGPD2 UCSF GRCh37 2 88125234 88125234 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 36 4 23 1 ENST00000398146.3:c.15A>G p.Lys5= p.K5= ENST00000398146 5 aaA/aaG 0 -SHISA9 UCSF GRCh37 16 13010641 13010641 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 136 38 175 0 ENST00000424107.3:c.660C>T p.Asn220= p.N220= ENST00000424107 220 aaC/aaT 0 -SHKBP1 UCSF GRCh37 19 41096697 41096697 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 67 52 94 0 ENST00000291842.5:c.1830G>A p.Pro610= p.P610= ENST00000291842 NM_138392.3 610 ccG/ccA 0 -SLC22A25 UCSF GRCh37 11 62951251 62951251 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 216 102 193 0 ENST00000306494.6:c.869A>G p.Asn290Ser p.N290S ENST00000306494 NM_199352.3 290 aAc/aGc 0 -SORCS2 UCSF GRCh37 4 7691261 7691261 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 75 31 75 0 ENST00000507866.2:c.1537G>A p.Val513Ile p.V513I ENST00000507866 NM_020777.2 513 Gta/Ata 0 -SOX6 UCSF GRCh37 11 16068204 16068204 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_B somatic WXS Sanger Illumina HiSeq 63 26 100 0 ENST00000396356.3:c.1479G>A p.Gln493= p.Q493= ENST00000396356 NM_033326.3 493 caG/caA 0 -SP6 UCSF GRCh37 17 45924768 45924768 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 22 8 22 0 ENST00000536300.1:c.1028C>T p.Ala343Val p.A343V ENST00000536300 NM_001258248.1 343 gCg/gTg 0 -SPAG17 UCSF GRCh37 1 118584652 118584652 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 140 100 209 0 ENST00000336338.5:c.2828A>G p.Glu943Gly p.E943G ENST00000336338 NM_206996.2 943 gAg/gGg 0 -TLN2 UCSF GRCh37 15 63047743 63047743 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 75 30 58 0 ENST00000561311.1:c.4489G>A p.Ala1497Thr p.A1497T ENST00000561311 1497 Gcc/Acc 0 -TMEM40 UCSF GRCh37 3 12779654 12779654 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 16 7 47 0 ENST00000314124.7:c.405A>G p.Arg135= p.R135= ENST00000314124 NM_018306.2 135 agA/agG 0 -TMEM63B UCSF GRCh37 6 44122598 44122598 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 37 32 66 0 ENST00000259746.9:c.2477T>C p.Ile826Thr p.I826T ENST00000259746 826 aTa/aCa 0 -TMPRSS11B UCSF GRCh37 4 69095151 69095151 + missense_variant Missense_Mutation SNP A A C NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 123 32 173 0 ENST00000332644.5:c.770T>G p.Ile257Ser p.I257S ENST00000332644 NM_182502.3 257 aTt/aGt 0 -TP53 UCSF GRCh37 17 7578550 7578550 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 3 46 42 0 ENST00000269305.4:c.380C>T p.Ser127Phe p.S127F ENST00000269305 NM_001126112.2 127 tCc/tTc 0 -TTN UCSF GRCh37 2 179641275 179641275 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 136 41 205 0 ENST00000589042.1:c.5316T>C p.Ser1772= p.S1772= ENST00000589042 NM_001267550.1 1772 agT/agC 0 -UGT3A1 UCSF GRCh37 5 35965819 35965819 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 120 35 145 0 ENST00000274278.3:c.512G>T p.Gly171Val p.G171V ENST00000274278 NM_152404.3 171 gGc/gTc 0 -WFDC12 UCSF GRCh37 20 43752784 43752784 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_B Untested WXS Illumina HiSeq 76 17 78 0 ENST00000372785.3:c.202T>C p.Phe68Leu p.F68L ENST00000372785 NM_080869.1 68 Ttc/Ctc 0 -ABCC9 UCSF GRCh37 12 21954093 21954093 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_C somatic WXS Sanger Illumina HiSeq 97 32 151 0 ENST00000261200.4:c.4535C>T p.Thr1512Met p.T1512M ENST00000261200 NM_020297.2 1512 aCg/aTg 0 -ADAMTSL1 UCSF GRCh37 9 18795416 18795416 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 55 0 ENST00000380548.4:c.3700del p.Ser1234ProfsTer34 p.S1234Pfs*34 ENST00000380548 NM_001040272.5 1233 gaT/ga 0 -ARNT UCSF GRCh37 1 150795783 150795783 + missense_variant Missense_Mutation SNP G G T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 108 15 187 0 ENST00000358595.5:c.1281C>A p.Phe427Leu p.F427L ENST00000358595 NM_178427.2 427 ttC/ttA 0 -ATP2B4 UCSF GRCh37 1 203677182 203677182 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 165 86 224 0 ENST00000357681.5:c.1507C>T p.Leu503Phe p.L503F ENST00000357681 NM_001684.4 503 Ctc/Ttc 0 -ATRX UCSF GRCh37 X 76952141 76952148 + frameshift_variant Frame_Shift_Del DEL CAAAGGTT CAAAGGTT - NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 74 0 ENST00000373344.5:c.287_294del p.Lys96ArgfsTer2 p.K96Rfs*2 ENST00000373344 NM_000489.3 96 aAACCTTTG/a 0 -BCL11B UCSF GRCh37 14 99641792 99641792 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 25 12 34 0 ENST00000357195.3:c.1381G>A p.Asp461Asn p.D461N ENST00000357195 NM_138576.2 461 Gac/Aac 0 -BRD4 UCSF GRCh37 19 15354224 15354224 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 9 7 9 0 ENST00000263377.2:c.2656C>T p.Arg886Trp p.R886W ENST00000263377 NM_058243.2 886 Cgg/Tgg 0 -C19orf2 UCSF GRCh37 19 30503247 30503247 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 152 24 210 1 ENST00000542441.2:c.1234T>C p.Ser412Pro p.S412P ENST00000542441 412 Tct/Cct 0 -CARD6 UCSF GRCh37 5 40852331 40852331 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 69 18 138 0 ENST00000254691.5:c.897A>G p.Arg299= p.R299= ENST00000254691 NM_032587.3 299 agA/agG 0 -CDHR3 UCSF GRCh37 7 105662691 105662691 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0014 P17_Rec1_C Untested WXS Illumina HiSeq 476 93 338 0 ENST00000317716.9:c.1873G>A p.Val625Ile p.V625I ENST00000317716 NM_152750.4 625 Gtc/Atc 0 -CHORDC1 UCSF GRCh37 11 89943710 89943710 + missense_variant Missense_Mutation SNP A A C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 49 18 76 0 ENST00000320585.6:c.486T>G p.Cys162Trp p.C162W ENST00000320585 NM_012124.2 162 tgT/tgG 0 -CLTC UCSF GRCh37 17 57758404 57758404 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 160 26 208 0 ENST00000269122.3:c.3051A>G p.Val1017= p.V1017= ENST00000269122 NM_004859.3 1017 gtA/gtG 0 -CRTAP UCSF GRCh37 3 33183903 33183903 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 54 14 128 0 ENST00000320954.6:c.1169A>G p.Tyr390Cys p.Y390C ENST00000320954 NM_006371.4 390 tAt/tGt 0 -DIDO1 UCSF GRCh37 20 61513252 61513252 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 152 82 187 0 ENST00000266070.4:c.4056C>T p.Asp1352= p.D1352= ENST00000266070 NM_033081.2 1352 gaC/gaT 0 -FAT1 UCSF GRCh37 4 187518024 187518024 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0022 P17_Rec1_C somatic WXS Sanger Illumina HiSeq 291 87 285 0 ENST00000441802.2:c.12670G>A p.Ala4224Thr p.A4224T ENST00000441802 NM_005245.3 4224 Gct/Act 0 -HEPH UCSF GRCh37 X 65409555 65409555 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 23 76 100 0 ENST00000519389.1:c.1000C>A p.Pro334Thr p.P334T ENST00000519389 334 Cct/Act 0 -HYAL4 UCSF GRCh37 7 123517035 123517035 + synonymous_variant Silent SNP A A T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 182 31 193 0 ENST00000223026.4:c.1272A>T p.Thr424= p.T424= ENST00000223026 NM_012269.2 424 acA/acT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 60 77 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL23R UCSF GRCh37 1 67724210 67724210 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 173 39 260 0 ENST00000347310.5:c.1289T>C p.Val430Ala p.V430A ENST00000347310 NM_144701.2 430 gTt/gCt 0 -KCNK15 UCSF GRCh37 20 43379023 43379023 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 123 24 60 0 ENST00000372861.3:c.537G>A p.Ser179= p.S179= ENST00000372861 NM_022358.3 179 tcG/tcA 0 -KIAA1383 UCSF GRCh37 1 232941658 232941658 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 28 17 38 0 ENST00000418460.1:c.889T>G p.Ser297Ala p.S297A ENST00000418460 NM_019090.2 297 Tcc/Gcc 0 -MDH1B UCSF GRCh37 2 207621736 207621736 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_C somatic WXS Sanger Illumina HiSeq 92 14 157 0 ENST00000374412.3:c.299C>T p.Thr100Met p.T100M ENST00000374412 NM_001039845.1 100 aCg/aTg 0 -MYO7B UCSF GRCh37 2 128331590 128331590 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 180 57 194 0 ENST00000428314.1:c.688G>A p.Ala230Thr p.A230T ENST00000428314 NM_001080527.1 230 Gcg/Acg 0 -PIK3CA UCSF GRCh37 3 178952085 178952085 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_C somatic WXS Sanger Illumina HiSeq 88 16 156 0 ENST00000263967.3:c.3140A>G p.His1047Arg p.H1047R ENST00000263967 NM_006218.2 1047 cAt/cGt 0 -RAD54B UCSF GRCh37 8 95390425 95390425 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 40 18 71 0 ENST00000336148.5:c.2498G>A p.Gly833Glu p.G833E ENST00000336148 NM_012415.3 833 gGa/gAa 0 -SDAD1 UCSF GRCh37 4 76902575 76902575 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 72 8 100 0 ENST00000356260.5:c.244A>G p.Lys82Glu p.K82E ENST00000356260 NM_018115.2 82 Aaa/Gaa 0 -SHISA9 UCSF GRCh37 16 13010641 13010641 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 122 27 175 0 ENST00000424107.3:c.660C>T p.Asn220= p.N220= ENST00000424107 220 aaC/aaT 0 -SHKBP1 UCSF GRCh37 19 41096697 41096697 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 64 44 94 0 ENST00000291842.5:c.1830G>A p.Pro610= p.P610= ENST00000291842 NM_138392.3 610 ccG/ccA 0 -SLC22A25 UCSF GRCh37 11 62951251 62951251 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 218 90 193 0 ENST00000306494.6:c.869A>G p.Asn290Ser p.N290S ENST00000306494 NM_199352.3 290 aAc/aGc 0 -SPAG17 UCSF GRCh37 1 118584652 118584652 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 146 87 209 0 ENST00000336338.5:c.2828A>G p.Glu943Gly p.E943G ENST00000336338 NM_206996.2 943 gAg/gGg 0 -TMEM63B UCSF GRCh37 6 44122598 44122598 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 35 24 66 0 ENST00000259746.9:c.2477T>C p.Ile826Thr p.I826T ENST00000259746 826 aTa/aCa 0 -TNFSF9 UCSF GRCh37 19 6535032 6535032 + synonymous_variant Silent SNP G G T NOVEL P17_Rec1_C somatic WXS Sanger Illumina HiSeq 25 6 32 0 ENST00000245817.3:c.720G>T p.Val240= p.V240= ENST00000245817 NM_003811.3 240 gtG/gtT 0 -TP53 UCSF GRCh37 17 7578550 7578550 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 9 38 42 0 ENST00000269305.4:c.380C>T p.Ser127Phe p.S127F ENST00000269305 NM_001126112.2 127 tCc/tTc 0 -TSHB UCSF GRCh37 1 115576706 115576706 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_C Untested WXS Illumina HiSeq 300 49 282 0 ENST00000256592.1:c.275C>A p.Ala92Asp p.A92D ENST00000256592 NM_000549.4 92 gCt/gAt 0 -ZNF211 UCSF GRCh37 19 58152143 58152143 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_C somatic WXS Sanger Illumina HiSeq 130 24 137 0 ENST00000299871.5:c.484T>C p.Phe162Leu p.F162L ENST00000299871 NM_001265597.1 162 Ttc/Ctc 0 -ABCC9 UCSF GRCh37 12 21954093 21954093 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D somatic WXS Sanger Illumina HiSeq 86 44 151 0 ENST00000261200.4:c.4535C>T p.Thr1512Met p.T1512M ENST00000261200 NM_020297.2 1512 aCg/aTg 0 -ADAMTS3 UCSF GRCh37 4 73149155 73149155 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 191 57 182 0 ENST00000286657.4:c.3316A>G p.Ile1106Val p.I1106V ENST00000286657 NM_014243.2 1106 Atc/Gtc 0 -ADAMTSL1 UCSF GRCh37 9 18795416 18795416 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 55 0 ENST00000380548.4:c.3700del p.Ser1234ProfsTer34 p.S1234Pfs*34 ENST00000380548 NM_001040272.5 1233 gaT/ga 0 -ASCC2 UCSF GRCh37 22 30198032 30198032 + stop_gained Nonsense_Mutation SNP C C A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 30 13 38 0 ENST00000397771.2:c.1519G>T p.Glu507Ter p.E507* ENST00000397771 507 Gag/Tag 0 -ATP2B4 UCSF GRCh37 1 203677182 203677182 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 150 122 224 0 ENST00000357681.5:c.1507C>T p.Leu503Phe p.L503F ENST00000357681 NM_001684.4 503 Ctc/Ttc 0 -ATRX UCSF GRCh37 X 76952141 76952148 + frameshift_variant Frame_Shift_Del DEL CAAAGGTT CAAAGGTT - NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 67 0 ENST00000373344.5:c.287_294del p.Lys96ArgfsTer2 p.K96Rfs*2 ENST00000373344 NM_000489.3 96 aAACCTTTG/a 0 -BCL11B UCSF GRCh37 14 99641792 99641792 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 40 12 34 0 ENST00000357195.3:c.1381G>A p.Asp461Asn p.D461N ENST00000357195 NM_138576.2 461 Gac/Aac 0 -BRD4 UCSF GRCh37 19 15354224 15354224 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 13 7 9 0 ENST00000263377.2:c.2656C>T p.Arg886Trp p.R886W ENST00000263377 NM_058243.2 886 Cgg/Tgg 0 -BRIP1 UCSF GRCh37 17 59876511 59876511 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 82 21 162 1 ENST00000259008.2:c.1290A>G p.Ile430Met p.I430M ENST00000259008 NM_032043.2 430 atA/atG 0 -CARD6 UCSF GRCh37 5 40852331 40852331 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 73 16 138 0 ENST00000254691.5:c.897A>G p.Arg299= p.R299= ENST00000254691 NM_032587.3 299 agA/agG 0 -CDHR3 UCSF GRCh37 7 105662691 105662691 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0014 P17_Rec1_D Untested WXS Illumina HiSeq 424 111 338 0 ENST00000317716.9:c.1873G>A p.Val625Ile p.V625I ENST00000317716 NM_152750.4 625 Gtc/Atc 0 -CHORDC1 UCSF GRCh37 11 89943710 89943710 + missense_variant Missense_Mutation SNP A A C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 46 11 76 0 ENST00000320585.6:c.486T>G p.Cys162Trp p.C162W ENST00000320585 NM_012124.2 162 tgT/tgG 0 -CRTAP UCSF GRCh37 3 33183903 33183903 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 37 17 128 0 ENST00000320954.6:c.1169A>G p.Tyr390Cys p.Y390C ENST00000320954 NM_006371.4 390 tAt/tGt 0 -DIDO1 UCSF GRCh37 20 61513252 61513252 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 102 98 187 0 ENST00000266070.4:c.4056C>T p.Asp1352= p.D1352= ENST00000266070 NM_033081.2 1352 gaC/gaT 0 -DNM1L UCSF GRCh37 12 32861097 32861097 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 39 9 78 0 ENST00000549701.1:c.308A>G p.Asp103Gly p.D103G ENST00000549701 103 gAt/gGt 0 -ECI2 UCSF GRCh37 6 4133876 4133876 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 133 29 201 0 ENST00000380118.3:c.120G>A p.Gln40= p.Q40= ENST00000380118 40 caG/caA 0 -FANCA UCSF GRCh37 16 89862354 89862354 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 77 28 118 0 ENST00000389301.3:c.966T>C p.His322= p.H322= ENST00000389301 NM_000135.2 322 caT/caC 0 -FAT1 UCSF GRCh37 4 187518024 187518024 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0022 P17_Rec1_D somatic WXS Sanger Illumina HiSeq 269 73 285 0 ENST00000441802.2:c.12670G>A p.Ala4224Thr p.A4224T ENST00000441802 NM_005245.3 4224 Gct/Act 0 -FAT1 UCSF GRCh37 4 187531037 187531037 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 248 71 246 0 ENST00000441802.2:c.9986A>G p.Asn3329Ser p.N3329S ENST00000441802 NM_005245.3 3329 aAc/aGc 0 -FGFBP1 UCSF GRCh37 4 15937919 15937919 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 163 38 192 0 ENST00000382333.1:c.337T>C p.Trp113Arg p.W113R ENST00000382333 NM_005130.4 113 Tgg/Cgg 0 -FLAD1 UCSF GRCh37 1 154962825 154962825 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 114 31 120 0 ENST00000292180.3:c.1375C>A p.Gln459Lys p.Q459K ENST00000292180 NM_025207.4 459 Cag/Aag 0 -GORAB UCSF GRCh37 1 170521320 170521320 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 113 46 121 0 ENST00000367763.3:c.902T>C p.Val301Ala p.V301A ENST00000367763 NM_152281.2 301 gTa/gCa 0 -HEPH UCSF GRCh37 X 65409555 65409555 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 9 90 100 0 ENST00000519389.1:c.1000C>A p.Pro334Thr p.P334T ENST00000519389 334 Cct/Act 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 57 91 114 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KAT6B UCSF GRCh37 10 76790463 76790463 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 273 71 210 0 ENST00000287239.4:c.5881A>G p.Met1961Val p.M1961V ENST00000287239 NM_001256468.1 1961 Atg/Gtg 0 -KIAA1383 UCSF GRCh37 1 232941658 232941658 + missense_variant Missense_Mutation SNP T T G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 13 12 38 0 ENST00000418460.1:c.889T>G p.Ser297Ala p.S297A ENST00000418460 NM_019090.2 297 Tcc/Gcc 0 -MACC1 UCSF GRCh37 7 20199790 20199790 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 86 19 151 0 ENST00000400331.5:c.194A>G p.Asn65Ser p.N65S ENST00000400331 NM_182762.3 65 aAt/aGt 0 -MBD6 UCSF GRCh37 12 57921732 57921732 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 8 0 ENST00000355673.3:c.2345delG p.Gly782GlufsTer13 p.G782Efs*13 ENST00000355673 NM_052897.3 780 Ggg/gg 0 -MDH1B UCSF GRCh37 2 207621736 207621736 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D somatic WXS Sanger Illumina HiSeq 87 12 157 0 ENST00000374412.3:c.299C>T p.Thr100Met p.T100M ENST00000374412 NM_001039845.1 100 aCg/aTg 0 -MYO7B UCSF GRCh37 2 128331590 128331590 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 176 58 194 0 ENST00000428314.1:c.688G>A p.Ala230Thr p.A230T ENST00000428314 NM_001080527.1 230 Gcg/Acg 0 -PIK3CA UCSF GRCh37 3 178952085 178952085 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_D somatic WXS Sanger Illumina HiSeq 73 28 156 0 ENST00000263967.3:c.3140A>G p.His1047Arg p.H1047R ENST00000263967 NM_006218.2 1047 cAt/cGt 0 -PLEKHG1 UCSF GRCh37 6 151151933 151151933 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_D somatic WXS Sanger Illumina HiSeq 132 40 163 0 ENST00000367328.1:c.1686C>T p.Phe562= p.F562= ENST00000367328 NM_001029884.1 562 ttC/ttT 0 -PRKCH UCSF GRCh37 14 61788905 61788905 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 55 18 27 1 ENST00000332981.5:c.86T>C p.Leu29Pro p.L29P ENST00000332981 NM_006255.3 29 cTg/cCg 0 -RAD54B UCSF GRCh37 8 95390425 95390425 + missense_variant Missense_Mutation SNP C C T NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 36 27 71 0 ENST00000336148.5:c.2498G>A p.Gly833Glu p.G833E ENST00000336148 NM_012415.3 833 gGa/gAa 0 -RGPD2 UCSF GRCh37 2 88125234 88125234 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 46 6 23 1 ENST00000398146.3:c.15A>G p.Lys5= p.K5= ENST00000398146 5 aaA/aaG 0 -SHISA9 UCSF GRCh37 16 13010641 13010641 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 114 34 175 0 ENST00000424107.3:c.660C>T p.Asn220= p.N220= ENST00000424107 220 aaC/aaT 0 -SHKBP1 UCSF GRCh37 19 41096697 41096697 + synonymous_variant Silent SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 65 61 94 0 ENST00000291842.5:c.1830G>A p.Pro610= p.P610= ENST00000291842 NM_138392.3 610 ccG/ccA 0 -SLC22A25 UCSF GRCh37 11 62951251 62951251 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 235 94 193 0 ENST00000306494.6:c.869A>G p.Asn290Ser p.N290S ENST00000306494 NM_199352.3 290 aAc/aGc 0 -SORCS2 UCSF GRCh37 4 7691261 7691261 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 64 23 75 0 ENST00000507866.2:c.1537G>A p.Val513Ile p.V513I ENST00000507866 NM_020777.2 513 Gta/Ata 0 -SOX6 UCSF GRCh37 11 16068204 16068204 + synonymous_variant Silent SNP C C T NOVEL P17_Rec1_D somatic WXS Sanger Illumina HiSeq 84 24 100 0 ENST00000396356.3:c.1479G>A p.Gln493= p.Q493= ENST00000396356 NM_033326.3 493 caG/caA 0 -SP6 UCSF GRCh37 17 45924768 45924768 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 36 10 22 0 ENST00000536300.1:c.1028C>T p.Ala343Val p.A343V ENST00000536300 NM_001258248.1 343 gCg/gTg 0 -SPAG17 UCSF GRCh37 1 118584652 118584652 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 116 93 209 0 ENST00000336338.5:c.2828A>G p.Glu943Gly p.E943G ENST00000336338 NM_206996.2 943 gAg/gGg 0 -TLN2 UCSF GRCh37 15 63047743 63047743 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 60 15 58 0 ENST00000561311.1:c.4489G>A p.Ala1497Thr p.A1497T ENST00000561311 1497 Gcc/Acc 0 -TMEM40 UCSF GRCh37 3 12779654 12779654 + synonymous_variant Silent SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 14 7 47 0 ENST00000314124.7:c.405A>G p.Arg135= p.R135= ENST00000314124 NM_018306.2 135 agA/agG 0 -TMEM63B UCSF GRCh37 6 44122598 44122598 + missense_variant Missense_Mutation SNP T T C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 34 33 66 0 ENST00000259746.9:c.2477T>C p.Ile826Thr p.I826T ENST00000259746 826 aTa/aCa 0 -TMPRSS11B UCSF GRCh37 4 69095151 69095151 + missense_variant Missense_Mutation SNP A A C NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 108 32 173 0 ENST00000332644.5:c.770T>G p.Ile257Ser p.I257S ENST00000332644 NM_182502.3 257 aTt/aGt 0 -TP53 UCSF GRCh37 17 7578550 7578550 + missense_variant Missense_Mutation SNP G G A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 5 47 42 0 ENST00000269305.4:c.380C>T p.Ser127Phe p.S127F ENST00000269305 NM_001126112.2 127 tCc/tTc 0 -TTN UCSF GRCh37 2 179641275 179641275 + synonymous_variant Silent SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 119 45 205 0 ENST00000589042.1:c.5316T>C p.Ser1772= p.S1772= ENST00000589042 NM_001267550.1 1772 agT/agC 0 -UGT3A1 UCSF GRCh37 5 35965819 35965819 + missense_variant Missense_Mutation SNP C C A NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 114 34 145 0 ENST00000274278.3:c.512G>T p.Gly171Val p.G171V ENST00000274278 NM_152404.3 171 gGc/gTc 0 -WFDC12 UCSF GRCh37 20 43752784 43752784 + missense_variant Missense_Mutation SNP A A G NOVEL P17_Rec1_D Untested WXS Illumina HiSeq 85 25 78 0 ENST00000372785.3:c.202T>C p.Phe68Leu p.F68L ENST00000372785 NM_080869.1 68 Ttc/Ctc 0 -AATK UCSF GRCh37 17 79095911 79095911 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 13 5 23 0 ENST00000326724.4:c.1825T>C p.Ser609Pro p.S609P ENST00000326724 NM_001080395.2 609 Tct/Cct 0 -ABCA5 UCSF GRCh37 17 67309286 67309286 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 106 62 179 0 ENST00000392676.3:c.254C>A p.Thr85Asn p.T85N ENST00000392676 85 aCt/aAt 0 -ABHD6 UCSF GRCh37 3 58255111 58255111 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 38 15 81 0 ENST00000478253.1:c.340T>C p.Ser114Pro p.S114P ENST00000478253 114 Tcc/Ccc 0 -ANKRD57 UCSF GRCh37 2 110372925 110372925 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 10 7 32 0 ENST00000356454.3:c.859C>G p.Leu287Val p.L287V ENST00000356454 NM_023016.3 287 Ctc/Gtc 0 -APOB UCSF GRCh37 2 21230912 21230912 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 143 74 265 0 ENST00000233242.1:c.8828A>G p.Glu2943Gly p.E2943G ENST00000233242 NM_000384.2 2943 gAa/gGa 0 -ATRX UCSF GRCh37 X 76918998 76918999 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P18_Pri_A somatic WXS Sanger Illumina HiSeq 60 0 ENST00000373344.5:c.3993dup p.Lys1332Ter p.K1332* ENST00000373344 NM_000489.3 1331 tct/tcTt 0 -BRAF UCSF GRCh37 7 140453136 140453136 + missense_variant Missense_Mutation SNP A A T snp132_rs113488022 P18_Pri_A somatic WXS Sanger Illumina HiSeq 143 35 190 0 ENST00000288602.6:c.1799T>A p.Val600Glu p.V600E ENST00000288602 NM_004333.4 600 gTg/gAg 0 -C1orf146 UCSF GRCh37 1 92710342 92710342 + synonymous_variant Silent SNP G G C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 74 63 131 0 ENST00000370375.3:c.336G>C p.Leu112= p.L112= ENST00000370375 NM_001012425.1 112 ctG/ctC 0 -C6orf204 UCSF GRCh37 6 118791763 118791763 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 135 62 179 0 ENST00000368488.5:c.1968G>C p.Lys656Asn p.K656N ENST00000368488 NM_001178035.1 656 aaG/aaC 0 -CACNA1A UCSF GRCh37 19 13563763 13563763 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 124 92 300 0 ENST00000360228.5:c.466G>C p.Gly156Arg p.G156R ENST00000360228 NM_001127222.1 156 Ggg/Cgg 0 -CCDC91 UCSF GRCh37 12 28459819 28459819 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 111 61 161 0 ENST00000545336.1:c.412A>G p.Ile138Val p.I138V ENST00000545336 138 Att/Gtt 0 -CCT8L2 UCSF GRCh37 22 17071975 17071975 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 142 67 253 0 ENST00000359963.3:c.1466C>T p.Ala489Val p.A489V ENST00000359963 NM_014406.4 489 gCc/gTc 0 -CDKAL1 UCSF GRCh37 6 21201505 21201505 + missense_variant,splice_region_variant Missense_Mutation SNP G G C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 98 39 165 0 ENST00000274695.4:c.1548G>C p.Lys516Asn p.K516N ENST00000274695 NM_017774.3 516 aaG/aaC 0 -CHRNA7 UCSF GRCh37 15 32393502 32393510 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site INS GAAGGATGA GAAGGATGA TTAAGGGTGG NOVEL P18_Pri_A Untested WXS Illumina HiSeq 6 0 ENST00000454250.3:c.283-4_287delinsTTAAGGGTGG p.X95_splice ENST00000454250 NM_001190455.2 0 -DCHS2 UCSF GRCh37 4 155411228 155411228 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 16 8 35 0 ENST00000339452.1:c.1280C>T p.Ser427Phe p.S427F ENST00000339452 NM_001142552.1 427 tCt/tTt 0 -DLEC1 UCSF GRCh37 3 38141899 38141899 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 79 34 155 0 ENST00000308059.6:c.2847G>A p.Val949= p.V949= ENST00000308059 949 gtG/gtA 0 -DNAH9 UCSF GRCh37 17 11865433 11865433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 21 95 184 0 ENST00000262442.4:c.13093C>T p.Arg4365Cys p.R4365C ENST00000262442 NM_001372.3 4365 Cgc/Tgc 0 -DYTN UCSF GRCh37 2 207572123 207572123 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 78 63 178 0 ENST00000452335.2:c.199C>T p.Gln67Ter p.Q67* ENST00000452335 NM_001093730.1 67 Caa/Taa 0 -ECEL1 UCSF GRCh37 2 233348784 233348784 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 99 11 125 2 ENST00000304546.1:c.1334C>A p.Ala445Asp p.A445D ENST00000304546 NM_004826.2 445 gCc/gAc 0 -EGF UCSF GRCh37 4 110932410 110932410 + synonymous_variant Silent SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 83 37 148 0 ENST00000265171.5:c.3423C>T p.Gly1141= p.G1141= ENST00000265171 NM_001963.4 1141 ggC/ggT 0 -ETHE1 UCSF GRCh37 19 44011007 44011007 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 94 17 94 0 ENST00000292147.2:c.760G>T p.Ala254Ser p.A254S ENST00000292147 NM_014297.3 254 Gcc/Tcc 0 -ENTREP1 UCSF GRCh37 9 71986494 71986494 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 73 51 213 0 ENST00000257515.8:c.92A>G p.Gln31Arg p.Q31R ENST00000257515 NM_004816.3 31 cAg/cGg 0 -FAT1 UCSF GRCh37 4 187516856 187516856 + synonymous_variant Silent SNP C C A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 124 76 277 0 ENST00000441802.2:c.13125G>T p.Ser4375= p.S4375= ENST00000441802 NM_005245.3 4375 tcG/tcT 0 -FIGNL1 UCSF GRCh37 7 50513387 50513387 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 142 89 226 0 ENST00000419119.1:c.1599A>G p.Thr533= p.T533= ENST00000419119 533 acA/acG 0 -FLNB UCSF GRCh37 3 58135716 58135716 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 126 60 247 0 ENST00000490882.1:c.6324C>G p.Asp2108Glu p.D2108E ENST00000490882 NM_001164317.1 2108 gaC/gaG 0 -FMN1 UCSF GRCh37 15 33261055 33261055 + synonymous_variant Silent SNP T T G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 41 8 65 1 ENST00000334528.9:c.2178A>C p.Pro726= p.P726= ENST00000334528 NM_001103184.3 726 ccA/ccC 0 -GATA5 UCSF GRCh37 20 61048578 61048578 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 17 8 17 0 ENST00000252997.2:c.580G>A p.Ala194Thr p.A194T ENST00000252997 NM_080473.4 194 Gcc/Acc 0 -GMNC UCSF GRCh37 3 190578563 190578563 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 105 54 167 0 ENST00000442080.1:c.88A>T p.Ser30Cys p.S30C ENST00000442080 NM_001146686.2 30 Agt/Tgt 0 -GRM1 UCSF GRCh37 6 146755345 146755345 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 68 9 113 0 ENST00000361719.2:c.2998A>G p.Thr1000Ala p.T1000A ENST00000361719 1000 Acc/Gcc 0 -HEATR4 UCSF GRCh37 14 73989203 73989203 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 79 17 123 0 ENST00000553558.1:c.654C>T p.Ile218= p.I218= ENST00000553558 NM_001220484.1 218 atC/atT 0 -HOXC12 UCSF GRCh37 12 54350163 54350163 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 106 50 213 0 ENST00000243103.3:c.662A>G p.Tyr221Cys p.Y221C ENST00000243103 NM_173860.1 221 tAt/tGt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 67 51 155 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGSF10 UCSF GRCh37 3 151154586 151154586 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 104 56 197 0 ENST00000282466.3:c.7763G>T p.Gly2588Val p.G2588V ENST00000282466 NM_178822.4 2588 gGt/gTt 0 -INPPL1 UCSF GRCh37 11 71949087 71949087 + missense_variant,splice_region_variant Missense_Mutation SNP C C A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 14 7 21 0 ENST00000298229.2:c.3554C>A p.Ala1185Asp p.A1185D ENST00000298229 NM_001567.3 1185 gCt/gAt 0 -IRF2BPL UCSF GRCh37 14 77492740 77492740 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 35 10 58 0 ENST00000238647.3:c.1396C>A p.His466Asn p.H466N ENST00000238647 NM_024496.3 466 Cac/Aac 0 -MYOF UCSF GRCh37 10 95097607 95097607 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 102 41 232 0 ENST00000359263.4:c.4402G>A p.Gly1468Arg p.G1468R ENST00000359263 NM_013451.3 1468 Gga/Aga 0 -NPTN UCSF GRCh37 15 73884321 73884321 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 184 28 265 0 ENST00000345330.4:c.597C>A p.Ser199Arg p.S199R ENST00000345330 NM_012428.3 199 agC/agA 0 -NUP188 UCSF GRCh37 9 131755524 131755524 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 83 53 186 0 ENST00000372577.2:c.2689A>T p.Ile897Phe p.I897F ENST00000372577 NM_015354.2 897 Att/Ttt 0 -OR10G3 UCSF GRCh37 14 22038246 22038246 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 87 47 195 0 ENST00000303532.1:c.630T>C p.Ser210= p.S210= ENST00000303532 NM_001005465.1 210 agT/agC 0 -OR51T1 UCSF GRCh37 11 4903156 4903156 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 34 71 170 0 ENST00000380378.1:c.108G>A p.Ser36= p.S36= ENST00000380378 NM_001004759.1 36 tcG/tcA 0 -OR5B3 UCSF GRCh37 11 58170636 58170636 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 145 73 217 1 ENST00000309403.2:c.247T>A p.Phe83Ile p.F83I ENST00000309403 NM_001005469.1 83 Ttc/Atc 0 -OR5D14 UCSF GRCh37 11 55563678 55563678 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 126 94 252 0 ENST00000335605.1:c.647T>C p.Ile216Thr p.I216T ENST00000335605 NM_001004735.1 216 aTc/aCc 0 -OR6C70 UCSF GRCh37 12 55863388 55863388 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 207 36 262 0 ENST00000327335.4:c.535A>G p.Ile179Val p.I179V ENST00000327335 NM_001005499.1 179 Att/Gtt 0 -PGR UCSF GRCh37 11 100933464 100933464 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 125 45 140 0 ENST00000325455.5:c.1926C>T p.Phe642= p.F642= ENST00000325455 NM_001202474.3 642 ttC/ttT 0 -PRPF40A UCSF GRCh37 2 153527822 153527822 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 146 107 242 0 ENST00000410080.1:c.1444G>A p.Glu482Lys p.E482K ENST00000410080 NM_017892.3 482 Gaa/Aaa 0 -RACGAP1 UCSF GRCh37 12 50387942 50387942 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 98 54 222 0 ENST00000434422.1:c.1311C>T p.Arg437= p.R437= ENST00000434422 437 cgC/cgT 0 -RAI14 UCSF GRCh37 5 34824590 34824590 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 69 34 110 0 ENST00000515799.1:c.2652T>C p.Asp884= p.D884= ENST00000515799 NM_001145525.1 884 gaT/gaC 0 -RPL21 UCSF GRCh37 13 27830577 27830577 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 90 45 117 0 ENST00000311549.6:c.398C>T p.Ala133Val p.A133V ENST00000311549 NM_000982.3 133 gCt/gTt 0 -RYR1 UCSF GRCh37 19 38991267 38991267 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 62 14 84 0 ENST00000359596.3:c.7345G>A p.Glu2449Lys p.E2449K ENST00000359596 2449 Gag/Aag 0 -SIGLEC12 UCSF GRCh37 19 52004795 52004795 + frameshift_variant Frame_Shift_Ins INS G G CT NOVEL P18_Pri_A Untested WXS Illumina HiSeq 7 0 ENST00000291707.3:c.193delinsAG p.Ala66GlyfsTer50 p.A66Gfs*50 ENST00000291707 NM_053003.2 65 Cgg/AGgg 0 -SORT1 UCSF GRCh37 1 109890108 109890108 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 98 36 89 0 ENST00000256637.6:c.829T>A p.Cys277Ser p.C277S ENST00000256637 NM_002959.5 277 Tgc/Agc 0 -SPINK7 UCSF GRCh37 5 147692956 147692956 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 94 57 197 0 ENST00000274565.4:c.81A>G p.Pro27= p.P27= ENST00000274565 NM_032566.2 27 ccA/ccG 0 -SULT1A1 UCSF GRCh37 16 28617217 28617217 + synonymous_variant Silent SNP C C T snp132_rs11569762 P18_Pri_A Untested WXS Illumina HiSeq 67 13 101 0 ENST00000395609.1:c.813G>A p.Ala271= p.A271= ENST00000395609 271 gcG/gcA 0 -TAAR8 UCSF GRCh37 6 132874197 132874197 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 111 72 267 0 ENST00000275200.1:c.366G>T p.Leu122Phe p.L122F ENST00000275200 NM_053278.1 122 ttG/ttT 0 -TJP3 UCSF GRCh37 19 3738640 3738640 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 32 21 79 0 ENST00000589378.1:c.1399G>C p.Val467Leu p.V467L ENST00000589378 NM_001267561.1 467 Gtg/Ctg 0 -TMEM201 UCSF GRCh37 1 9658524 9658524 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 44 21 97 0 ENST00000340381.6:c.447G>T p.Glu149Asp p.E149D ENST00000340381 NM_001130924.2 149 gaG/gaT 0 -TMPRSS15 UCSF GRCh37 21 19732166 19732166 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 110 76 154 0 ENST00000284885.3:c.788T>A p.Leu263His p.L263H ENST00000284885 NM_002772.2 263 cTt/cAt 0 -TP53 UCSF GRCh37 17 7577572 7577572 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_A somatic WXS Sanger Illumina HiSeq 19 50 78 0 ENST00000269305.4:c.709A>G p.Met237Val p.M237V ENST00000269305 NM_001126112.2 237 Atg/Gtg 0 -TRIM52 UCSF GRCh37 5 180687399 180687399 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 101 52 224 0 ENST00000327767.4:c.416T>G p.Leu139Trp p.L139W ENST00000327767 NM_032765.2 139 tTg/tGg 0 -TRIM52 UCSF GRCh37 5 180687407 180687407 + synonymous_variant Silent SNP T T G NOVEL P18_Pri_A Untested WXS Illumina HiSeq 105 48 231 0 ENST00000327767.4:c.408A>C p.Leu136= p.L136= ENST00000327767 NM_032765.2 136 ctA/ctC 0 -TRIM59 UCSF GRCh37 3 160156368 160156369 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P18_Pri_A Untested WXS Illumina HiSeq 6 0 ENST00000309784.4:c.604dup p.Ser202LysfsTer8 p.S202Kfs*8 ENST00000309784 NM_173084.2 201 -/A 0 -USP18 UCSF GRCh37 22 18650764 18650764 + synonymous_variant Silent SNP T T A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 114 78 258 0 ENST00000215794.7:c.588T>A p.Leu196= p.L196= ENST00000215794 NM_017414.3 196 ctT/ctA 0 -WDR1 UCSF GRCh37 4 10089922 10089922 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 10 6 27 0 ENST00000499869.2:c.712T>G p.Tyr238Asp p.Y238D ENST00000499869 238 Tac/Gac 0 -ZNF280D UCSF GRCh37 15 56968955 56968955 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 135 75 209 0 ENST00000267807.7:c.1323T>G p.His441Gln p.H441Q ENST00000267807 NM_017661.2 441 caT/caG 0 -ZNF280D UCSF GRCh37 15 56969839 56969839 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_A Untested WXS Illumina HiSeq 86 49 114 0 ENST00000267807.7:c.1196C>G p.Thr399Arg p.T399R ENST00000267807 NM_017661.2 399 aCa/aGa 0 -ZNF518B UCSF GRCh37 4 10445063 10445063 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Pri_A Untested WXS Illumina HiSeq 149 29 233 0 ENST00000326756.3:c.2890A>T p.Asn964Tyr p.N964Y ENST00000326756 NM_053042.2 964 Aat/Tat 0 -ABCA5 UCSF GRCh37 17 67309286 67309286 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 80 31 179 0 ENST00000392676.3:c.254C>A p.Thr85Asn p.T85N ENST00000392676 85 aCt/aAt 0 -ADAM19 UCSF GRCh37 5 156934130 156934130 + synonymous_variant Silent SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 52 9 87 1 ENST00000257527.4:c.924C>A p.Gly308= p.G308= ENST00000257527 NM_033274.4 308 ggC/ggA 0 -ANGPT4 UCSF GRCh37 20 858877 858877 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 37 16 62 0 ENST00000381922.3:c.1147C>A p.Gln383Lys p.Q383K ENST00000381922 NM_015985.2 383 Caa/Aaa 0 -ATRX UCSF GRCh37 X 76918998 76918999 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 19 0 ENST00000373344.5:c.3993dup p.Lys1332Ter p.K1332* ENST00000373344 NM_000489.3 1331 tct/tcTt 0 -C14orf49 UCSF GRCh37 14 95932381 95932381 + synonymous_variant Silent SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 106 41 119 0 ENST00000334258.5:c.514C>A p.Arg172= p.R172= ENST00000334258 NM_152592.3 172 Cgg/Agg 0 -C1orf146 UCSF GRCh37 1 92710342 92710342 + synonymous_variant Silent SNP G G C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 88 24 131 0 ENST00000370375.3:c.336G>C p.Leu112= p.L112= ENST00000370375 NM_001012425.1 112 ctG/ctC 0 -C4BPA UCSF GRCh37 1 207317200 207317200 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 89 26 161 0 ENST00000367070.3:c.1482G>T p.Leu494Phe p.L494F ENST00000367070 NM_000715.3 494 ttG/ttT 0 -CCDC91 UCSF GRCh37 12 28459819 28459819 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 106 44 161 0 ENST00000545336.1:c.412A>G p.Ile138Val p.I138V ENST00000545336 138 Att/Gtt 0 -CELA2A UCSF GRCh37 1 15789929 15789929 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 143 47 211 0 ENST00000359621.4:c.405C>A p.Asp135Glu p.D135E ENST00000359621 NM_033440.2 135 gaC/gaA 0 -CILP2 UCSF GRCh37 19 19655073 19655073 + synonymous_variant Silent SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 149 18 142 0 ENST00000291495.5:c.1719C>T p.Gly573= p.G573= ENST00000291495 NM_153221.2 573 ggC/ggT 0 -CRNN UCSF GRCh37 1 152382931 152382931 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 286 54 276 0 ENST00000271835.3:c.627G>C p.Glu209Asp p.E209D ENST00000271835 NM_016190.2 209 gaG/gaC 0 -DCHS2 UCSF GRCh37 4 155411228 155411228 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 24 6 35 0 ENST00000339452.1:c.1280C>T p.Ser427Phe p.S427F ENST00000339452 NM_001142552.1 427 tCt/tTt 0 -DNAH9 UCSF GRCh37 17 11865433 11865433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 62 87 184 0 ENST00000262442.4:c.13093C>T p.Arg4365Cys p.R4365C ENST00000262442 NM_001372.3 4365 Cgc/Tgc 0 -DYTN UCSF GRCh37 2 207572123 207572123 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 63 30 178 0 ENST00000452335.2:c.199C>T p.Gln67Ter p.Q67* ENST00000452335 NM_001093730.1 67 Caa/Taa 0 -EFR3A UCSF GRCh37 8 132980635 132980635 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 214 38 283 0 ENST00000254624.5:c.949G>T p.Val317Phe p.V317F ENST00000254624 NM_015137.4 317 Gtt/Ttt 0 -FAM81B UCSF GRCh37 5 94731872 94731872 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 146 26 197 0 ENST00000283357.5:c.286G>T p.Val96Phe p.V96F ENST00000283357 NM_152548.2 96 Gtt/Ttt 0 -FAT1 UCSF GRCh37 4 187516856 187516856 + synonymous_variant Silent SNP C C A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 222 74 277 0 ENST00000441802.2:c.13125G>T p.Ser4375= p.S4375= ENST00000441802 NM_005245.3 4375 tcG/tcT 0 -FIGNL1 UCSF GRCh37 7 50513387 50513387 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 158 72 226 0 ENST00000419119.1:c.1599A>G p.Thr533= p.T533= ENST00000419119 533 acA/acG 0 -FLNB UCSF GRCh37 3 58135716 58135716 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 202 59 247 0 ENST00000490882.1:c.6324C>G p.Asp2108Glu p.D2108E ENST00000490882 NM_001164317.1 2108 gaC/gaG 0 -GPR158 UCSF GRCh37 10 25701295 25701295 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 304 42 301 0 ENST00000376351.3:c.1228G>A p.Val410Ile p.V410I ENST00000376351 NM_020752.2 410 Gtc/Atc 0 -GPRIN2 UCSF GRCh37 10 46999601 46999601 + missense_variant Missense_Mutation SNP G G A snp132_rs9422022 P18_Pri_B Untested WXS Illumina HiSeq 62 19 73 1 ENST00000374314.4:c.721G>A p.Val241Met p.V241M ENST00000374314 241 Gtg/Atg 0 -HOXC12 UCSF GRCh37 12 54350163 54350163 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 117 38 213 0 ENST00000243103.3:c.662A>G p.Tyr221Cys p.Y221C ENST00000243103 NM_173860.1 221 tAt/tGt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 79 33 155 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KIAA0513 UCSF GRCh37 16 85111032 85111032 + splice_region_variant,synonymous_variant Splice_Region SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 31 7 66 0 ENST00000566428.1:c.576A>G p.Gly192= p.G192= ENST00000566428 NM_001286565.1 192 ggA/ggG 0 -KRTAP4-7 UCSF GRCh37 17 39240829 39240829 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 57 10 64 0 ENST00000391417.4:c.371T>C p.Val124Ala p.V124A ENST00000391417 NM_033061.3 124 gTc/gCc 0 -LAMC2 UCSF GRCh37 1 183212454 183212454 + synonymous_variant Silent SNP G G C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 119 17 161 0 ENST00000264144.4:c.3501G>C p.Leu1167= p.L1167= ENST00000264144 NM_005562.2 1167 ctG/ctC 0 -LRRIQ3 UCSF GRCh37 1 74507485 74507485 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 111 45 208 0 ENST00000354431.4:c.1130T>C p.Phe377Ser p.F377S ENST00000354431 NM_001105659.1 377 tTt/tCt 0 -LRRK1 UCSF GRCh37 15 101566207 101566207 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 52 87 118 0 ENST00000388948.3:c.2270C>T p.Thr757Met p.T757M ENST00000388948 NM_024652.3 757 aCg/aTg 0 -LTBP3 UCSF GRCh37 11 65321611 65321611 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 32 12 39 0 ENST00000301873.5:c.572T>C p.Ile191Thr p.I191T ENST00000301873 NM_001130144.2 191 aTc/aCc 0 -MAD1L1 UCSF GRCh37 7 2020096 2020096 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.015,snp132_rs113127342 P18_Pri_B Untested WXS Illumina HiSeq 15 3 35 1 ENST00000406869.1:c.1497C>T p.Asp499= p.D499= ENST00000406869 499 gaC/gaT 0 -MAGEA8 UCSF GRCh37 X 149013393 149013393 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 78 39 126 0 ENST00000535454.1:c.347T>C p.Val116Ala p.V116A ENST00000535454 NM_001166400.1 116 gTg/gCg 0 -MET UCSF GRCh37 7 116339260 116339260 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 103 58 182 0 ENST00000397752.3:c.122A>G p.Tyr41Cys p.Y41C ENST00000397752 NM_000245.2 41 tAt/tGt 0 -NTMT2 UCSF GRCh37 1 170135792 170135792 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 180 95 238 0 ENST00000439373.2:c.480G>A p.Gln160= p.Q160= ENST00000439373 NM_001136107.1 160 caG/caA 0 -MTUS1 UCSF GRCh37 8 17611815 17611815 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 230 117 292 0 ENST00000262102.6:c.1502G>A p.Ser501Asn p.S501N ENST00000262102 NM_001001924.2 501 aGt/aAt 0 -MYOF UCSF GRCh37 10 95097607 95097607 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 109 60 232 0 ENST00000359263.4:c.4402G>A p.Gly1468Arg p.G1468R ENST00000359263 NM_013451.3 1468 Gga/Aga 0 -NTN1 UCSF GRCh37 17 9066252 9066252 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 33 6 42 0 ENST00000173229.2:c.1141C>G p.His381Asp p.H381D ENST00000173229 NM_004822.2 381 Cat/Gat 0 -OR10G3 UCSF GRCh37 14 22038246 22038246 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 159 71 195 0 ENST00000303532.1:c.630T>C p.Ser210= p.S210= ENST00000303532 NM_001005465.1 210 agT/agC 0 -OR5D14 UCSF GRCh37 11 55563678 55563678 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 229 104 252 0 ENST00000335605.1:c.647T>C p.Ile216Thr p.I216T ENST00000335605 NM_001004735.1 216 aTc/aCc 0 -PCLO UCSF GRCh37 7 82581498 82581499 + inframe_insertion In_Frame_Ins INS - - TCT NOVEL P18_Pri_B Untested WXS Illumina HiSeq 6 0 ENST00000333891.9:c.8770_8771insAGA p.Ile2923_Ile2924insLys p.I2923_I2924insK ENST00000333891 NM_033026.5 2924 ata/aAGAta 0 -PCNT UCSF GRCh37 21 47831434 47831434 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 52 8 66 1 ENST00000359568.5:c.5447C>A p.Ala1816Asp p.A1816D ENST00000359568 NM_006031.5 1816 gCc/gAc 0 -PGR UCSF GRCh37 11 100933464 100933464 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 126 49 140 0 ENST00000325455.5:c.1926C>T p.Phe642= p.F642= ENST00000325455 NM_001202474.3 642 ttC/ttT 0 -PKHD1L1 UCSF GRCh37 8 110457191 110457191 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 276 104 305 0 ENST00000378402.5:c.5093T>C p.Phe1698Ser p.F1698S ENST00000378402 NM_177531.4 1698 tTc/tCc 0 -PPP1R11 UCSF GRCh37 6 30037034 30037034 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 63 9 76 0 ENST00000376772.3:c.332C>T p.Pro111Leu p.P111L ENST00000376772 NM_021959.2 111 cCc/cTc 0 -PRR12 UCSF GRCh37 19 50100979 50100979 + synonymous_variant Silent SNP C C G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 31 7 43 0 ENST00000418929.2:c.3387C>G p.Arg1129= p.R1129= ENST00000418929 NM_020719.1 1129 cgC/cgG 0 -QRFPR UCSF GRCh37 4 122257975 122257975 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 221 29 259 0 ENST00000394427.2:c.548T>C p.Val183Ala p.V183A ENST00000394427 NM_198179.2 183 gTg/gCg 0 -RAB11FIP1 UCSF GRCh37 8 37756731 37756731 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 6 8 20 0 ENST00000330843.4:c.229C>T p.Leu77= p.L77= ENST00000330843 NM_001002814.2 77 Ctg/Ttg 0 -RACGAP1 UCSF GRCh37 12 50387942 50387942 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 116 22 222 0 ENST00000434422.1:c.1311C>T p.Arg437= p.R437= ENST00000434422 437 cgC/cgT 0 -RPL21 UCSF GRCh37 13 27830577 27830577 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 53 16 117 0 ENST00000311549.6:c.398C>T p.Ala133Val p.A133V ENST00000311549 NM_000982.3 133 gCt/gTt 0 -SON UCSF GRCh37 21 34923851 34923851 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 278 41 324 0 ENST00000356577.4:c.2314G>T p.Asp772Tyr p.D772Y ENST00000356577 NM_138927.2 772 Gac/Tac 0 -SPINK7 UCSF GRCh37 5 147692956 147692956 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 123 45 197 0 ENST00000274565.4:c.81A>G p.Pro27= p.P27= ENST00000274565 NM_032566.2 27 ccA/ccG 0 -SRCAP UCSF GRCh37 16 30720835 30720835 + missense_variant,splice_region_variant Missense_Mutation SNP T T G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 76 18 111 2 ENST00000262518.4:c.635T>G p.Val212Gly p.V212G ENST00000262518 NM_006662.2 212 gTg/gGg 0 -TBL1X UCSF GRCh37 X 9652214 9652214 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 22 8 61 0 ENST00000217964.7:c.343A>G p.Ile115Val p.I115V ENST00000217964 NM_005647.3 115 Atc/Gtc 0 -TFAP2C UCSF GRCh37 20 55206427 55206427 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 37 9 59 0 ENST00000201031.2:c.215C>T p.Ser72Leu p.S72L ENST00000201031 NM_003222.3 72 tCg/tTg 0 -TJP3 UCSF GRCh37 19 3738640 3738640 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 57 26 79 0 ENST00000589378.1:c.1399G>C p.Val467Leu p.V467L ENST00000589378 NM_001267561.1 467 Gtg/Ctg 0 -TMPRSS15 UCSF GRCh37 21 19732166 19732166 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 79 32 154 0 ENST00000284885.3:c.788T>A p.Leu263His p.L263H ENST00000284885 NM_002772.2 263 cTt/cAt 0 -TP53 UCSF GRCh37 17 7577572 7577572 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 18 39 78 0 ENST00000269305.4:c.709A>G p.Met237Val p.M237V ENST00000269305 NM_001126112.2 237 Atg/Gtg 0 -TRIM52 UCSF GRCh37 5 180687399 180687399 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 193 91 224 0 ENST00000327767.4:c.416T>G p.Leu139Trp p.L139W ENST00000327767 NM_032765.2 139 tTg/tGg 0 -TRIM52 UCSF GRCh37 5 180687407 180687407 + synonymous_variant Silent SNP T T G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 198 89 231 0 ENST00000327767.4:c.408A>C p.Leu136= p.L136= ENST00000327767 NM_032765.2 136 ctA/ctC 0 -TTF2 UCSF GRCh37 1 117626650 117626650 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_B Untested WXS Illumina HiSeq 137 47 185 0 ENST00000369466.4:c.1914C>G p.Asp638Glu p.D638E ENST00000369466 NM_003594.3 638 gaC/gaG 0 -USP18 UCSF GRCh37 22 18650764 18650764 + synonymous_variant Silent SNP T T A NOVEL P18_Pri_B Untested WXS Illumina HiSeq 182 67 258 0 ENST00000215794.7:c.588T>A p.Leu196= p.L196= ENST00000215794 NM_017414.3 196 ctT/ctA 0 -WWC2 UCSF GRCh37 4 184129248 184129248 + synonymous_variant Silent SNP C C T NOVEL P18_Pri_B Untested WXS Illumina HiSeq 115 42 211 0 ENST00000403733.3:c.384C>T p.Ala128= p.A128= ENST00000403733 NM_024949.5 128 gcC/gcT 0 -ZNF280D UCSF GRCh37 15 56968955 56968955 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 161 26 209 0 ENST00000267807.7:c.1323T>G p.His441Gln p.H441Q ENST00000267807 NM_017661.2 441 caT/caG 0 -ZNF280D UCSF GRCh37 15 56969839 56969839 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_B Untested WXS Illumina HiSeq 60 14 114 0 ENST00000267807.7:c.1196C>G p.Thr399Arg p.T399R ENST00000267807 NM_017661.2 399 aCa/aGa 0 -AATK UCSF GRCh37 17 79095911 79095911 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 9 12 23 0 ENST00000326724.4:c.1825T>C p.Ser609Pro p.S609P ENST00000326724 NM_001080395.2 609 Tct/Cct 0 -ABCA5 UCSF GRCh37 17 67309286 67309286 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 88 45 179 0 ENST00000392676.3:c.254C>A p.Thr85Asn p.T85N ENST00000392676 85 aCt/aAt 0 -ABHD6 UCSF GRCh37 3 58255111 58255111 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 54 14 81 0 ENST00000478253.1:c.340T>C p.Ser114Pro p.S114P ENST00000478253 114 Tcc/Ccc 0 -ALOX15 UCSF GRCh37 17 4542725 4542725 + missense_variant,splice_region_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.060,snp132_rs41509647 P18_Pri_C Untested WXS Illumina HiSeq 53 6 79 2 ENST00000570836.1:c.337G>A p.Gly113Ser p.G113S ENST00000570836 113 Ggc/Agc 0 -ANKRD57 UCSF GRCh37 2 110372925 110372925 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 17 22 32 0 ENST00000356454.3:c.859C>G p.Leu287Val p.L287V ENST00000356454 NM_023016.3 287 Ctc/Gtc 0 -APOB UCSF GRCh37 2 21230912 21230912 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 185 122 265 0 ENST00000233242.1:c.8828A>G p.Glu2943Gly p.E2943G ENST00000233242 NM_000384.2 2943 gAa/gGa 0 -APOBR UCSF GRCh37 16 28507445 28507445 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 11 5 32 0 ENST00000564831.1:c.1083G>C p.Glu361Asp p.E361D ENST00000564831 NM_018690.3 361 gaG/gaC 0 -ATRX UCSF GRCh37 X 76918998 76918999 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 58 0 ENST00000373344.5:c.3993dup p.Lys1332Ter p.K1332* ENST00000373344 NM_000489.3 1331 tct/tcTt 0 -C1orf146 UCSF GRCh37 1 92710342 92710342 + synonymous_variant Silent SNP G G C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 87 42 131 0 ENST00000370375.3:c.336G>C p.Leu112= p.L112= ENST00000370375 NM_001012425.1 112 ctG/ctC 0 -C6orf204 UCSF GRCh37 6 118791763 118791763 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 95 37 179 0 ENST00000368488.5:c.1968G>C p.Lys656Asn p.K656N ENST00000368488 NM_001178035.1 656 aaG/aaC 0 -CACNA1A UCSF GRCh37 19 13563763 13563763 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 290 171 300 0 ENST00000360228.5:c.466G>C p.Gly156Arg p.G156R ENST00000360228 NM_001127222.1 156 Ggg/Cgg 0 -CCDC91 UCSF GRCh37 12 28459819 28459819 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 89 54 161 0 ENST00000545336.1:c.412A>G p.Ile138Val p.I138V ENST00000545336 138 Att/Gtt 0 -CCT8L2 UCSF GRCh37 22 17071975 17071975 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 180 102 253 0 ENST00000359963.3:c.1466C>T p.Ala489Val p.A489V ENST00000359963 NM_014406.4 489 gCc/gTc 0 -CDKAL1 UCSF GRCh37 6 21201505 21201505 + missense_variant,splice_region_variant Missense_Mutation SNP G G C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 146 25 165 0 ENST00000274695.4:c.1548G>C p.Lys516Asn p.K516N ENST00000274695 NM_017774.3 516 aaG/aaC 0 -CHRM2 UCSF GRCh37 7 136700565 136700565 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 169 34 184 0 ENST00000445907.2:c.953A>G p.Glu318Gly p.E318G ENST00000445907 NM_001006627.1 318 gAg/gGg 0 -DCHS2 UCSF GRCh37 4 155411228 155411228 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 21 17 35 0 ENST00000339452.1:c.1280C>T p.Ser427Phe p.S427F ENST00000339452 NM_001142552.1 427 tCt/tTt 0 -DLEC1 UCSF GRCh37 3 38141899 38141899 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 124 22 155 0 ENST00000308059.6:c.2847G>A p.Val949= p.V949= ENST00000308059 949 gtG/gtA 0 -DNAH9 UCSF GRCh37 17 11865433 11865433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 30 125 184 0 ENST00000262442.4:c.13093C>T p.Arg4365Cys p.R4365C ENST00000262442 NM_001372.3 4365 Cgc/Tgc 0 -DYTN UCSF GRCh37 2 207572123 207572123 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 83 55 178 0 ENST00000452335.2:c.199C>T p.Gln67Ter p.Q67* ENST00000452335 NM_001093730.1 67 Caa/Taa 0 -EGF UCSF GRCh37 4 110932410 110932410 + synonymous_variant Silent SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 98 62 148 0 ENST00000265171.5:c.3423C>T p.Gly1141= p.G1141= ENST00000265171 NM_001963.4 1141 ggC/ggT 0 -F2 UCSF GRCh37 11 46751000 46751000 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 108 13 132 0 ENST00000311907.5:c.1543G>A p.Val515Ile p.V515I ENST00000311907 NM_000506.3 515 Gtt/Att 0 -FAM129A UCSF GRCh37 1 184764507 184764529 + frameshift_variant Frame_Shift_Ins INS CGGAGAGGCTGGGCTGCCTACCT CGGAGAGGCTGGGCTGCCTACCT GGGGGGGGCTGGGGTGCCCACCCC NOVEL P18_Pri_C Untested WXS Illumina HiSeq 8 0 ENST00000367511.3:c.2369_2391delinsGGGGTGGGCACCCCAGCCCCCCCC p.Glu790GlyfsTer37 p.E790Gfs*37 ENST00000367511 NM_052966.3 790 gAGGTAGGCAGCCCAGCCTCTCCG/gGGGGTGGGCACCCCAGCCCCCCCC 0 -ENTREP1 UCSF GRCh37 9 71986494 71986494 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 145 62 213 0 ENST00000257515.8:c.92A>G p.Gln31Arg p.Q31R ENST00000257515 NM_004816.3 31 cAg/cGg 0 -FAM47C UCSF GRCh37 X 37028925 37028925 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 79 14 100 0 ENST00000358047.3:c.2442G>A p.Pro814= p.P814= ENST00000358047 NM_001013736.2 814 ccG/ccA 0 -FAT1 UCSF GRCh37 4 187516856 187516856 + synonymous_variant Silent SNP C C A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 214 163 277 0 ENST00000441802.2:c.13125G>T p.Ser4375= p.S4375= ENST00000441802 NM_005245.3 4375 tcG/tcT 0 -FIGNL1 UCSF GRCh37 7 50513387 50513387 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 147 110 226 0 ENST00000419119.1:c.1599A>G p.Thr533= p.T533= ENST00000419119 533 acA/acG 0 -FLNB UCSF GRCh37 3 58135716 58135716 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 188 104 247 0 ENST00000490882.1:c.6324C>G p.Asp2108Glu p.D2108E ENST00000490882 NM_001164317.1 2108 gaC/gaG 0 -GATA5 UCSF GRCh37 20 61048578 61048578 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 10 7 17 0 ENST00000252997.2:c.580G>A p.Ala194Thr p.A194T ENST00000252997 NM_080473.4 194 Gcc/Acc 0 -GMNC UCSF GRCh37 3 190578563 190578563 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 112 80 167 0 ENST00000442080.1:c.88A>T p.Ser30Cys p.S30C ENST00000442080 NM_001146686.2 30 Agt/Tgt 0 -GP2 UCSF GRCh37 16 20337743 20337743 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 34 8 80 0 ENST00000381362.4:c.11T>G p.Leu4Arg p.L4R ENST00000381362 NM_001007240.1 4 cTt/cGt 0 -GPRIN2 UCSF GRCh37 10 46999601 46999601 + missense_variant Missense_Mutation SNP G G A snp132_rs9422022 P18_Pri_C Untested WXS Illumina HiSeq 86 20 73 1 ENST00000374314.4:c.721G>A p.Val241Met p.V241M ENST00000374314 241 Gtg/Atg 0 -HOXC12 UCSF GRCh37 12 54350163 54350163 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 116 86 213 0 ENST00000243103.3:c.662A>G p.Tyr221Cys p.Y221C ENST00000243103 NM_173860.1 221 tAt/tGt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 58 55 155 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IFT74 UCSF GRCh37 9 26980584 26980584 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P18_Pri_C Untested WXS Illumina HiSeq 10 0 ENST00000443698.1:c.275del p.Leu92Ter p.L92* ENST00000443698 NM_001099222.1 91 aTt/at 0 -IGSF10 UCSF GRCh37 3 151154586 151154586 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 180 23 197 0 ENST00000282466.3:c.7763G>T p.Gly2588Val p.G2588V ENST00000282466 NM_178822.4 2588 gGt/gTt 0 -KRAS UCSF GRCh37 12 25398220 25398220 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 32 4 45 0 ENST00000256078.4:c.99T>G p.Asp33Glu p.D33E ENST00000256078 NM_033360.2 33 gaT/gaG 0 -MKI67 UCSF GRCh37 10 129905112 129905113 + frameshift_variant Frame_Shift_Del DEL TG TG - 1000g2010nov_all P18_Pri_C Untested WXS Illumina HiSeq 7 0 ENST00000368654.3:c.4991_4992delCA p.Thr1664ArgfsTer7 p.T1664Rfs*7 ENST00000368654 NM_002417.4 1664 aCA/a 0 -MYOF UCSF GRCh37 10 95097607 95097607 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 142 93 232 0 ENST00000359263.4:c.4402G>A p.Gly1468Arg p.G1468R ENST00000359263 NM_013451.3 1468 Gga/Aga 0 -NOTCH1 UCSF GRCh37 9 139412283 139412285 + inframe_deletion In_Frame_Del DEL GTT GTT - NOVEL P18_Pri_C Untested WXS Illumina HiSeq 7 0 ENST00000277541.6:c.1360_1362delAAC p.Asn454del p.N454del ENST00000277541 NM_017617.3 454 AAC/- 0 -NUP188 UCSF GRCh37 9 131755524 131755524 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 108 57 186 0 ENST00000372577.2:c.2689A>T p.Ile897Phe p.I897F ENST00000372577 NM_015354.2 897 Att/Ttt 0 -OR10G3 UCSF GRCh37 14 22038246 22038246 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 153 94 195 0 ENST00000303532.1:c.630T>C p.Ser210= p.S210= ENST00000303532 NM_001005465.1 210 agT/agC 0 -OR51T1 UCSF GRCh37 11 4903156 4903156 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 29 64 170 0 ENST00000380378.1:c.108G>A p.Ser36= p.S36= ENST00000380378 NM_001004759.1 36 tcG/tcA 0 -OR5B3 UCSF GRCh37 11 58170636 58170636 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 243 32 217 1 ENST00000309403.2:c.247T>A p.Phe83Ile p.F83I ENST00000309403 NM_001005469.1 83 Ttc/Atc 0 -OR5D14 UCSF GRCh37 11 55563678 55563678 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 219 160 252 0 ENST00000335605.1:c.647T>C p.Ile216Thr p.I216T ENST00000335605 NM_001004735.1 216 aTc/aCc 0 -OR6C70 UCSF GRCh37 12 55863388 55863388 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 255 30 262 0 ENST00000327335.4:c.535A>G p.Ile179Val p.I179V ENST00000327335 NM_001005499.1 179 Att/Gtt 0 -PAGE4 UCSF GRCh37 X 49595090 49595090 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 76 23 133 0 ENST00000218068.6:c.59A>T p.Asp20Val p.D20V ENST00000218068 NM_007003.2 20 gAt/gTt 0 -PCLO UCSF GRCh37 7 82581498 82581499 + inframe_insertion In_Frame_Ins INS - - TCT NOVEL P18_Pri_C Untested WXS Illumina HiSeq 10 0 ENST00000333891.9:c.8770_8771insAGA p.Ile2923_Ile2924insLys p.I2923_I2924insK ENST00000333891 NM_033026.5 2924 ata/aAGAta 0 -PGR UCSF GRCh37 11 100933464 100933464 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 174 66 140 0 ENST00000325455.5:c.1926C>T p.Phe642= p.F642= ENST00000325455 NM_001202474.3 642 ttC/ttT 0 -PRPF40A UCSF GRCh37 2 153527822 153527822 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 99 87 242 0 ENST00000410080.1:c.1444G>A p.Glu482Lys p.E482K ENST00000410080 NM_017892.3 482 Gaa/Aaa 0 -RACGAP1 UCSF GRCh37 12 50387942 50387942 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 119 76 222 0 ENST00000434422.1:c.1311C>T p.Arg437= p.R437= ENST00000434422 437 cgC/cgT 0 -RAF1 UCSF GRCh37 3 12645699 12645699 + missense_variant Missense_Mutation SNP G G A snp132_rs80338796 P18_Pri_C Untested WXS Illumina HiSeq 82 18 152 0 ENST00000251849.4:c.770C>T p.Ser257Leu p.S257L ENST00000251849 NM_002880.3 257 tCg/tTg 0 -RAI14 UCSF GRCh37 5 34824590 34824590 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 24 22 110 0 ENST00000515799.1:c.2652T>C p.Asp884= p.D884= ENST00000515799 NM_001145525.1 884 gaT/gaC 0 -RASAL3 UCSF GRCh37 19 15567379 15567379 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 99 12 106 0 ENST00000343625.7:c.1510T>C p.Leu504= p.L504= ENST00000343625 NM_022904.1 504 Ttg/Ctg 0 -RPL21 UCSF GRCh37 13 27830577 27830577 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 53 29 117 0 ENST00000311549.6:c.398C>T p.Ala133Val p.A133V ENST00000311549 NM_000982.3 133 gCt/gTt 0 -RYR1 UCSF GRCh37 19 38991267 38991267 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 81 11 84 0 ENST00000359596.3:c.7345G>A p.Glu2449Lys p.E2449K ENST00000359596 2449 Gag/Aag 0 -SNAP91 UCSF GRCh37 6 84315432 84315432 + synonymous_variant Silent SNP T T G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 33 5 54 0 ENST00000439399.2:c.1113A>C p.Pro371= p.P371= ENST00000439399 NM_014841.2 371 ccA/ccC 0 -SORT1 UCSF GRCh37 1 109890108 109890108 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 78 26 89 0 ENST00000256637.6:c.829T>A p.Cys277Ser p.C277S ENST00000256637 NM_002959.5 277 Tgc/Agc 0 -SPINK7 UCSF GRCh37 5 147692956 147692956 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 97 72 197 0 ENST00000274565.4:c.81A>G p.Pro27= p.P27= ENST00000274565 NM_032566.2 27 ccA/ccG 0 -TAAR8 UCSF GRCh37 6 132874197 132874197 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 337 179 267 0 ENST00000275200.1:c.366G>T p.Leu122Phe p.L122F ENST00000275200 NM_053278.1 122 ttG/ttT 0 -TJP3 UCSF GRCh37 19 3738640 3738640 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 67 43 79 0 ENST00000589378.1:c.1399G>C p.Val467Leu p.V467L ENST00000589378 NM_001267561.1 467 Gtg/Ctg 0 -TLR7 UCSF GRCh37 X 12905935 12905935 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 69 11 131 0 ENST00000380659.3:c.2308A>T p.Asn770Tyr p.N770Y ENST00000380659 NM_016562.3 770 Aat/Tat 0 -TMEM201 UCSF GRCh37 1 9658524 9658524 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 45 26 97 0 ENST00000340381.6:c.447G>T p.Glu149Asp p.E149D ENST00000340381 NM_001130924.2 149 gaG/gaT 0 -TMLHE UCSF GRCh37 X 154743884 154743884 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 94 14 128 1 ENST00000334398.3:c.401T>G p.Val134Gly p.V134G ENST00000334398 NM_018196.3 134 gTg/gGg 0 -TMPRSS15 UCSF GRCh37 21 19732166 19732166 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 89 52 154 0 ENST00000284885.3:c.788T>A p.Leu263His p.L263H ENST00000284885 NM_002772.2 263 cTt/cAt 0 -TP53 UCSF GRCh37 17 7577572 7577572 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 9 66 78 0 ENST00000269305.4:c.709A>G p.Met237Val p.M237V ENST00000269305 NM_001126112.2 237 Atg/Gtg 0 -TRIM52 UCSF GRCh37 5 180687399 180687399 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 185 161 224 0 ENST00000327767.4:c.416T>G p.Leu139Trp p.L139W ENST00000327767 NM_032765.2 139 tTg/tGg 0 -TRIM52 UCSF GRCh37 5 180687407 180687407 + synonymous_variant Silent SNP T T G NOVEL P18_Pri_C Untested WXS Illumina HiSeq 187 166 231 0 ENST00000327767.4:c.408A>C p.Leu136= p.L136= ENST00000327767 NM_032765.2 136 ctA/ctC 0 -TUBA3D UCSF GRCh37 2 132238306 132238306 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_C Untested WXS Illumina HiSeq 193 29 160 2 ENST00000321253.6:c.1040G>T p.Cys347Phe p.C347F ENST00000321253 NM_080386.3 347 tGc/tTc 0 -USP18 UCSF GRCh37 22 18650764 18650764 + synonymous_variant Silent SNP T T A NOVEL P18_Pri_C Untested WXS Illumina HiSeq 164 110 258 0 ENST00000215794.7:c.588T>A p.Leu196= p.L196= ENST00000215794 NM_017414.3 196 ctT/ctA 0 -WDR1 UCSF GRCh37 4 10089922 10089922 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 17 4 27 0 ENST00000499869.2:c.712T>G p.Tyr238Asp p.Y238D ENST00000499869 238 Tac/Gac 0 -ZNF280D UCSF GRCh37 15 56968955 56968955 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 161 89 209 0 ENST00000267807.7:c.1323T>G p.His441Gln p.H441Q ENST00000267807 NM_017661.2 441 caT/caG 0 -ZNF280D UCSF GRCh37 15 56969839 56969839 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_C Untested WXS Illumina HiSeq 72 41 114 0 ENST00000267807.7:c.1196C>G p.Thr399Arg p.T399R ENST00000267807 NM_017661.2 399 aCa/aGa 0 -AATK UCSF GRCh37 17 79095911 79095911 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 18 5 23 0 ENST00000326724.4:c.1825T>C p.Ser609Pro p.S609P ENST00000326724 NM_001080395.2 609 Tct/Cct 0 -ABCA5 UCSF GRCh37 17 67309286 67309286 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 91 45 179 0 ENST00000392676.3:c.254C>A p.Thr85Asn p.T85N ENST00000392676 85 aCt/aAt 0 -ABHD6 UCSF GRCh37 3 58255111 58255111 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 45 18 81 0 ENST00000478253.1:c.340T>C p.Ser114Pro p.S114P ENST00000478253 114 Tcc/Ccc 0 -ANKRD57 UCSF GRCh37 2 110372925 110372925 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 30 17 32 0 ENST00000356454.3:c.859C>G p.Leu287Val p.L287V ENST00000356454 NM_023016.3 287 Ctc/Gtc 0 -APOB UCSF GRCh37 2 21230912 21230912 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 226 123 265 0 ENST00000233242.1:c.8828A>G p.Glu2943Gly p.E2943G ENST00000233242 NM_000384.2 2943 gAa/gGa 0 -ATRX UCSF GRCh37 X 76918998 76918999 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 48 0 ENST00000373344.5:c.3993dup p.Lys1332Ter p.K1332* ENST00000373344 NM_000489.3 1331 tct/tcTt 0 -BCAP31 UCSF GRCh37 X 152986398 152986398 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 89 10 93 1 ENST00000458587.2:c.323T>G p.Val108Gly p.V108G ENST00000458587 NM_001139441.1 108 gTg/gGg 0 -BRAF UCSF GRCh37 7 140453136 140453136 + missense_variant Missense_Mutation SNP A A T snp132_rs113488022 P18_Pri_D somatic WXS Sanger Illumina HiSeq 159 22 190 0 ENST00000288602.6:c.1799T>A p.Val600Glu p.V600E ENST00000288602 NM_004333.4 600 gTg/gAg 0 -C1orf146 UCSF GRCh37 1 92710342 92710342 + synonymous_variant Silent SNP G G C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 68 39 131 0 ENST00000370375.3:c.336G>C p.Leu112= p.L112= ENST00000370375 NM_001012425.1 112 ctG/ctC 0 -C6orf204 UCSF GRCh37 6 118791763 118791763 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 134 53 179 0 ENST00000368488.5:c.1968G>C p.Lys656Asn p.K656N ENST00000368488 NM_001178035.1 656 aaG/aaC 0 -CACNA1A UCSF GRCh37 19 13563763 13563763 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 378 193 300 0 ENST00000360228.5:c.466G>C p.Gly156Arg p.G156R ENST00000360228 NM_001127222.1 156 Ggg/Cgg 0 -CCDC91 UCSF GRCh37 12 28459819 28459819 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 92 50 161 0 ENST00000545336.1:c.412A>G p.Ile138Val p.I138V ENST00000545336 138 Att/Gtt 0 -CCT8L2 UCSF GRCh37 22 17071975 17071975 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 228 117 253 0 ENST00000359963.3:c.1466C>T p.Ala489Val p.A489V ENST00000359963 NM_014406.4 489 gCc/gTc 0 -CDKAL1 UCSF GRCh37 6 21201505 21201505 + missense_variant,splice_region_variant Missense_Mutation SNP G G C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 122 35 165 0 ENST00000274695.4:c.1548G>C p.Lys516Asn p.K516N ENST00000274695 NM_017774.3 516 aaG/aaC 0 -DCHS2 UCSF GRCh37 4 155411228 155411228 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 27 11 35 0 ENST00000339452.1:c.1280C>T p.Ser427Phe p.S427F ENST00000339452 NM_001142552.1 427 tCt/tTt 0 -DLEC1 UCSF GRCh37 3 38141899 38141899 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 102 25 155 0 ENST00000308059.6:c.2847G>A p.Val949= p.V949= ENST00000308059 949 gtG/gtA 0 -DNAH9 UCSF GRCh37 17 11865433 11865433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 57 111 184 0 ENST00000262442.4:c.13093C>T p.Arg4365Cys p.R4365C ENST00000262442 NM_001372.3 4365 Cgc/Tgc 0 -DYTN UCSF GRCh37 2 207572123 207572123 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 79 51 178 0 ENST00000452335.2:c.199C>T p.Gln67Ter p.Q67* ENST00000452335 NM_001093730.1 67 Caa/Taa 0 -EGF UCSF GRCh37 4 110932410 110932410 + synonymous_variant Silent SNP C C T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 99 28 148 0 ENST00000265171.5:c.3423C>T p.Gly1141= p.G1141= ENST00000265171 NM_001963.4 1141 ggC/ggT 0 -ENTREP1 UCSF GRCh37 9 71986494 71986494 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 166 52 213 0 ENST00000257515.8:c.92A>G p.Gln31Arg p.Q31R ENST00000257515 NM_004816.3 31 cAg/cGg 0 -FAT1 UCSF GRCh37 4 187516856 187516856 + synonymous_variant Silent SNP C C A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 292 130 277 0 ENST00000441802.2:c.13125G>T p.Ser4375= p.S4375= ENST00000441802 NM_005245.3 4375 tcG/tcT 0 -FIGNL1 UCSF GRCh37 7 50513387 50513387 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 192 93 226 0 ENST00000419119.1:c.1599A>G p.Thr533= p.T533= ENST00000419119 533 acA/acG 0 -FLNB UCSF GRCh37 3 58135716 58135716 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 238 96 247 0 ENST00000490882.1:c.6324C>G p.Asp2108Glu p.D2108E ENST00000490882 NM_001164317.1 2108 gaC/gaG 0 -GMNC UCSF GRCh37 3 190578563 190578563 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 157 67 167 0 ENST00000442080.1:c.88A>T p.Ser30Cys p.S30C ENST00000442080 NM_001146686.2 30 Agt/Tgt 0 -GPRIN2 UCSF GRCh37 10 46999601 46999601 + missense_variant Missense_Mutation SNP G G A snp132_rs9422022 P18_Pri_D Untested WXS Illumina HiSeq 89 11 73 1 ENST00000374314.4:c.721G>A p.Val241Met p.V241M ENST00000374314 241 Gtg/Atg 0 -HOXC12 UCSF GRCh37 12 54350163 54350163 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 160 71 213 0 ENST00000243103.3:c.662A>G p.Tyr221Cys p.Y221C ENST00000243103 NM_173860.1 221 tAt/tGt 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 83 37 155 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGSF10 UCSF GRCh37 3 151154586 151154586 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 141 46 197 0 ENST00000282466.3:c.7763G>T p.Gly2588Val p.G2588V ENST00000282466 NM_178822.4 2588 gGt/gTt 0 -JUNB UCSF GRCh37 19 12903427 12903427 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 14 5 14 0 ENST00000302754.4:c.842C>G p.Ala281Gly p.A281G ENST00000302754 NM_002229.2 281 gCg/gGg 0 -MED8 UCSF GRCh37 1 43850143 43850144 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 6 0 ENST00000290663.6:c.884dup p.Asn295LysfsTer19 p.N295Kfs*19 ENST00000290663 NM_052877.4 295 aat/aAat 0 -MKI67 UCSF GRCh37 10 129905112 129905113 + frameshift_variant Frame_Shift_Del DEL TG TG - 1000g2010nov_all P18_Pri_D Untested WXS Illumina HiSeq 6 0 ENST00000368654.3:c.4991_4992delCA p.Thr1664ArgfsTer7 p.T1664Rfs*7 ENST00000368654 NM_002417.4 1664 aCA/a 0 -MN1 UCSF GRCh37 22 28194166 28194166 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 38 7 40 0 ENST00000302326.4:c.2366C>G p.Pro789Arg p.P789R ENST00000302326 NM_002430.2 789 cCt/cGt 0 -MYOF UCSF GRCh37 10 95097607 95097607 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 145 72 232 0 ENST00000359263.4:c.4402G>A p.Gly1468Arg p.G1468R ENST00000359263 NM_013451.3 1468 Gga/Aga 0 -NUP188 UCSF GRCh37 9 131755524 131755524 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 125 65 186 0 ENST00000372577.2:c.2689A>T p.Ile897Phe p.I897F ENST00000372577 NM_015354.2 897 Att/Ttt 0 -OR10G3 UCSF GRCh37 14 22038246 22038246 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 188 105 195 0 ENST00000303532.1:c.630T>C p.Ser210= p.S210= ENST00000303532 NM_001005465.1 210 agT/agC 0 -OR51T1 UCSF GRCh37 11 4903156 4903156 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 67 73 170 0 ENST00000380378.1:c.108G>A p.Ser36= p.S36= ENST00000380378 NM_001004759.1 36 tcG/tcA 0 -OR5B3 UCSF GRCh37 11 58170636 58170636 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 232 89 217 1 ENST00000309403.2:c.247T>A p.Phe83Ile p.F83I ENST00000309403 NM_001005469.1 83 Ttc/Atc 0 -OR5D14 UCSF GRCh37 11 55563678 55563678 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 309 154 252 0 ENST00000335605.1:c.647T>C p.Ile216Thr p.I216T ENST00000335605 NM_001004735.1 216 aTc/aCc 0 -OR6C70 UCSF GRCh37 12 55863388 55863388 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 299 40 262 0 ENST00000327335.4:c.535A>G p.Ile179Val p.I179V ENST00000327335 NM_001005499.1 179 Att/Gtt 0 -OTOP1 UCSF GRCh37 4 4228243 4228243 + missense_variant Missense_Mutation SNP G G T 1000g2010nov_all_0.081 P18_Pri_D Untested WXS Illumina HiSeq 9 6 15 0 ENST00000296358.4:c.349C>A p.His117Asn p.H117N ENST00000296358 NM_177998.1 117 Cac/Aac 0 -PCDP1 UCSF GRCh37 2 120366070 120366085 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site INS CTCCCCAGGCAGGTGC CTCCCCAGGCAGGTGC TCTCCCCAGGCAGGGGG NOVEL P18_Pri_D Untested WXS Illumina HiSeq 6 0 ENST00000413369.3:c.1134-8_1141delinsTCTCCCCAGGCAGGGGG p.X378_splice ENST00000413369 NM_001271049.1 0 -PCLO UCSF GRCh37 7 82581498 82581499 + inframe_insertion In_Frame_Ins INS - - TCT NOVEL P18_Pri_D Untested WXS Illumina HiSeq 15 0 ENST00000333891.9:c.8770_8771insAGA p.Ile2923_Ile2924insLys p.I2923_I2924insK ENST00000333891 NM_033026.5 2924 ata/aAGAta 0 -PGR UCSF GRCh37 11 100933464 100933464 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 191 70 140 0 ENST00000325455.5:c.1926C>T p.Phe642= p.F642= ENST00000325455 NM_001202474.3 642 ttC/ttT 0 -PRPF40A UCSF GRCh37 2 153527822 153527822 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 155 53 242 0 ENST00000410080.1:c.1444G>A p.Glu482Lys p.E482K ENST00000410080 NM_017892.3 482 Gaa/Aaa 0 -RACGAP1 UCSF GRCh37 12 50387942 50387942 + synonymous_variant Silent SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 117 56 222 0 ENST00000434422.1:c.1311C>T p.Arg437= p.R437= ENST00000434422 437 cgC/cgT 0 -RAI14 UCSF GRCh37 5 34824590 34824590 + synonymous_variant Silent SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 50 24 110 0 ENST00000515799.1:c.2652T>C p.Asp884= p.D884= ENST00000515799 NM_001145525.1 884 gaT/gaC 0 -RPL21 UCSF GRCh37 13 27830577 27830577 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 60 44 117 0 ENST00000311549.6:c.398C>T p.Ala133Val p.A133V ENST00000311549 NM_000982.3 133 gCt/gTt 0 -RYR1 UCSF GRCh37 19 38991267 38991267 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 78 28 84 0 ENST00000359596.3:c.7345G>A p.Glu2449Lys p.E2449K ENST00000359596 2449 Gag/Aag 0 -SORT1 UCSF GRCh37 1 109890108 109890108 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 103 27 89 0 ENST00000256637.6:c.829T>A p.Cys277Ser p.C277S ENST00000256637 NM_002959.5 277 Tgc/Agc 0 -SPINK7 UCSF GRCh37 5 147692956 147692956 + synonymous_variant Silent SNP A A G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 127 50 197 0 ENST00000274565.4:c.81A>G p.Pro27= p.P27= ENST00000274565 NM_032566.2 27 ccA/ccG 0 -TAAR8 UCSF GRCh37 6 132874197 132874197 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 486 179 267 0 ENST00000275200.1:c.366G>T p.Leu122Phe p.L122F ENST00000275200 NM_053278.1 122 ttG/ttT 0 -TJP3 UCSF GRCh37 19 3738640 3738640 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 90 41 79 0 ENST00000589378.1:c.1399G>C p.Val467Leu p.V467L ENST00000589378 NM_001267561.1 467 Gtg/Ctg 0 -TMEM201 UCSF GRCh37 1 9658524 9658524 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 88 30 97 0 ENST00000340381.6:c.447G>T p.Glu149Asp p.E149D ENST00000340381 NM_001130924.2 149 gaG/gaT 0 -TMPRSS15 UCSF GRCh37 21 19732166 19732166 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 100 50 154 0 ENST00000284885.3:c.788T>A p.Leu263His p.L263H ENST00000284885 NM_002772.2 263 cTt/cAt 0 -TP53 UCSF GRCh37 17 7577572 7577572 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 17 65 78 0 ENST00000269305.4:c.709A>G p.Met237Val p.M237V ENST00000269305 NM_001126112.2 237 Atg/Gtg 0 -TRIM52 UCSF GRCh37 5 180687399 180687399 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 258 84 224 0 ENST00000327767.4:c.416T>G p.Leu139Trp p.L139W ENST00000327767 NM_032765.2 139 tTg/tGg 0 -TRIM52 UCSF GRCh37 5 180687407 180687407 + synonymous_variant Silent SNP T T G NOVEL P18_Pri_D Untested WXS Illumina HiSeq 257 83 231 0 ENST00000327767.4:c.408A>C p.Leu136= p.L136= ENST00000327767 NM_032765.2 136 ctA/ctC 0 -UGT1A3 UCSF GRCh37 2 234638283 234638284 + frameshift_variant Frame_Shift_Ins INS - - T NOVEL P18_Pri_D Untested WXS Illumina HiSeq 6 0 ENST00000482026.1:c.518dup p.Leu173PhefsTer7 p.L173Ffs*7 ENST00000482026 171 ttt/tTtt 0 -USP18 UCSF GRCh37 22 18650764 18650764 + synonymous_variant Silent SNP T T A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 226 101 258 0 ENST00000215794.7:c.588T>A p.Leu196= p.L196= ENST00000215794 NM_017414.3 196 ctT/ctA 0 -WDR1 UCSF GRCh37 4 10089922 10089922 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 16 3 27 0 ENST00000499869.2:c.712T>G p.Tyr238Asp p.Y238D ENST00000499869 238 Tac/Gac 0 -ZNF280D UCSF GRCh37 15 56968955 56968955 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 185 78 209 0 ENST00000267807.7:c.1323T>G p.His441Gln p.H441Q ENST00000267807 NM_017661.2 441 caT/caG 0 -ZNF280D UCSF GRCh37 15 56969839 56969839 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Pri_D Untested WXS Illumina HiSeq 55 34 114 0 ENST00000267807.7:c.1196C>G p.Thr399Arg p.T399R ENST00000267807 NM_017661.2 399 aCa/aGa 0 -ZNF518B UCSF GRCh37 4 10445063 10445063 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Pri_D Untested WXS Illumina HiSeq 226 35 233 0 ENST00000326756.3:c.2890A>T p.Asn964Tyr p.N964Y ENST00000326756 NM_053042.2 964 Aat/Tat 0 -A1BG UCSF GRCh37 19 58862971 58862971 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 25 60 0 ENST00000263100.3:c.696C>T p.Cys232= p.C232= ENST00000263100 NM_130786.3 232 tgC/tgT 0 -A2M UCSF GRCh37 12 9229956 9229956 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 24 16 51 0 ENST00000318602.7:c.3337C>T p.Pro1113Ser p.P1113S ENST00000318602 NM_000014.4 1113 Cct/Tct 0 -AADACL4 UCSF GRCh37 1 12721866 12721866 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 81 158 0 ENST00000376221.1:c.449+1G>A p.X150_splice ENST00000376221 NM_001013630.1 0 -AARS UCSF GRCh37 16 70287616 70287616 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 35 35 75 0 ENST00000261772.8:c.2607+1G>A p.X869_splice ENST00000261772 NM_001605.2 0 -AARS2 UCSF GRCh37 6 44271120 44271120 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 36 44 65 0 ENST00000244571.4:c.2048C>T p.Thr683Ile p.T683I ENST00000244571 NM_020745.3 683 aCt/aTt 0 -AARSD1 UCSF GRCh37 17 41107981 41107981 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 150 88 192 0 ENST00000421990.2:c.1194G>A p.Lys398= p.K398= ENST00000421990 NM_001136042.2 398 aaG/aaA 0 -AASDH UCSF GRCh37 4 57204898 57204898 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 64 135 0 ENST00000205214.6:c.2967G>A p.Glu989= p.E989= ENST00000205214 NM_181806.2 989 gaG/gaA 0 -AATK UCSF GRCh37 17 79094371 79094371 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 7 17 0 ENST00000326724.4:c.3365G>A p.Gly1122Glu p.G1122E ENST00000326724 NM_001080395.2 1122 gGa/gAa 0 -ABCA1 UCSF GRCh37 9 107547874 107547874 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 81 171 0 ENST00000374736.3:c.6448C>T p.Pro2150Ser p.P2150S ENST00000374736 NM_005502.3 2150 Ccg/Tcg 0 -ABCA1 UCSF GRCh37 9 107549232 107549232 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 117 75 177 0 ENST00000374736.3:c.6230C>T p.Pro2077Leu p.P2077L ENST00000374736 NM_005502.3 2077 cCc/cTc 0 -ABCA12 UCSF GRCh37 2 215917211 215917211 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 49 105 0 ENST00000272895.7:c.507G>A p.Lys169= p.K169= ENST00000272895 NM_173076.2 169 aaG/aaA 0 -ABCA13 UCSF GRCh37 7 48391970 48391970 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P18_Rec Untested WXS Illumina HiSeq 64 0 ENST00000435803.1:c.10577del p.Pro3526HisfsTer5 p.P3526Hfs*5 ENST00000435803 NM_152701.3 3525 gCc/gc 0 -ABCA2 UCSF GRCh37 9 139910874 139910874 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 54 124 0 ENST00000341511.6:c.2973C>T p.Val991= p.V991= ENST00000341511 NM_212533.2 991 gtC/gtT 0 -ABCA2 UCSF GRCh37 9 139902948 139902948 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 7 10 0 ENST00000341511.6:c.7195G>A p.Glu2399Lys p.E2399K ENST00000341511 NM_212533.2 2399 Gag/Aag 0 -ABCA3 UCSF GRCh37 16 2374452 2374452 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 12 35 0 ENST00000301732.5:c.400G>A p.Val134Ile p.V134I ENST00000301732 NM_001089.2 134 Gtc/Atc 0 -ABCA3 UCSF GRCh37 16 2336836 2336836 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 177 59 117 0 ENST00000301732.5:c.3137C>T p.Ala1046Val p.A1046V ENST00000301732 NM_001089.2 1046 gCg/gTg 0 -ABCA3 UCSF GRCh37 16 2334326 2334326 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 140 46 75 0 ENST00000301732.5:c.3816G>A p.Arg1272= p.R1272= ENST00000301732 NM_001089.2 1272 agG/agA 0 -ABCA4 UCSF GRCh37 1 94544147 94544147 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 64 140 0 ENST00000370225.3:c.1355G>A p.Arg452Lys p.R452K ENST00000370225 NM_000350.2 452 aGa/aAa 0 -ABCA5 UCSF GRCh37 17 67309286 67309286 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 63 179 0 ENST00000392676.3:c.254C>A p.Thr85Asn p.T85N ENST00000392676 85 aCt/aAt 0 -ABCA6 UCSF GRCh37 17 67103919 67103919 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 67 125 0 ENST00000284425.2:c.2307G>A p.Gln769= p.Q769= ENST00000284425 NM_080284.2 769 caG/caA 0 -ABCB1 UCSF GRCh37 7 87175303 87175303 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 139 94 217 0 ENST00000265724.3:c.1763G>A p.Arg588His p.R588H ENST00000265724 NM_000927.4 588 cGt/cAt 0 -ABCB9 UCSF GRCh37 12 123419954 123419954 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 40 73 0 ENST00000542678.1:c.1768G>A p.Val590Met p.V590M ENST00000542678 590 Gtg/Atg 0 -ABCC10 UCSF GRCh37 6 43400588 43400588 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 45 94 0 ENST00000372530.4:c.870G>A p.Leu290= p.L290= ENST00000372530 NM_001198934.1 290 ctG/ctA 0 -ABL1 UCSF GRCh37 9 133760187 133760187 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 23 21 46 0 ENST00000318560.5:c.2510G>A p.Gly837Glu p.G837E ENST00000318560 NM_005157.4 837 gGa/gAa 0 -ABLIM3 UCSF GRCh37 5 148620338 148620338 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 65 124 0 ENST00000506113.1:c.1303+1G>A p.X435_splice ENST00000506113 0 -ABTB2 UCSF GRCh37 11 34184228 34184228 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 41 28 53 0 ENST00000435224.2:c.2113G>A p.Gly705Arg p.G705R ENST00000435224 NM_145804.2 705 Ggg/Agg 0 -ACAA2 UCSF GRCh37 18 47311620 47311620 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 67 131 0 ENST00000285093.10:c.1056C>T p.His352= p.H352= ENST00000285093 NM_006111.2 352 caC/caT 0 -ACACA UCSF GRCh37 17 35545383 35545383 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 53 116 0 ENST00000353139.5:c.4610G>A p.Gly1537Glu p.G1537E ENST00000353139 NM_198834.1 1537 gGa/gAa 0 -ACACA UCSF GRCh37 17 35603853 35603853 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 164 88 210 0 ENST00000353139.5:c.2349G>A p.Glu783= p.E783= ENST00000353139 NM_198834.1 783 gaG/gaA 0 -ACAD10 UCSF GRCh37 12 112186993 112186993 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 166 111 268 0 ENST00000455480.2:c.2754C>T p.Val918= p.V918= ENST00000455480 NM_001136538.1 918 gtC/gtT 0 -ACAD9 UCSF GRCh37 3 128612436 128612436 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 42 103 0 ENST00000308982.7:c.283G>A p.Asp95Asn p.D95N ENST00000308982 NM_014049.4 95 Gat/Aat 0 -ACADVL UCSF GRCh37 17 7128190 7128190 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 39 84 0 ENST00000543245.2:c.1883C>T p.Thr628Ile p.T628I ENST00000543245 NM_001270447.1 628 aCc/aTc 0 -ACAN UCSF GRCh37 15 89398830 89398830 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 122 65 231 0 ENST00000439576.2:c.3014C>T p.Ala1005Val p.A1005V ENST00000439576 NM_013227.3 1005 gCc/gTc 0 -ACAN UCSF GRCh37 15 89400170 89400170 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 237 147 365 0 ENST00000439576.2:c.4354C>T p.Pro1452Ser p.P1452S ENST00000439576 NM_013227.3 1452 Cct/Tct 0 -ACAN UCSF GRCh37 15 89417131 89417131 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 34 39 92 0 ENST00000439576.2:c.7392C>T p.Asp2464= p.D2464= ENST00000439576 NM_013227.3 2464 gaC/gaT 0 -ACAN UCSF GRCh37 15 89415235 89415235 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 98 182 0 ENST00000439576.2:c.7107C>T p.Asn2369= p.N2369= ENST00000439576 NM_013227.3 2369 aaC/aaT 0 -ACHE UCSF GRCh37 7 100490427 100490427 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 8 20 0 ENST00000302913.4:c.1081G>A p.Val361Met p.V361M ENST00000302913 NM_015831.2 361 Gtg/Atg 0 -ACO1 UCSF GRCh37 9 32427404 32427404 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 25 85 207 0 ENST00000309951.6:c.1454G>A p.Ser485Asn p.S485N ENST00000309951 NM_002197.2 485 aGc/aAc 0 -ACOT12 UCSF GRCh37 5 80626249 80626249 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 65 187 0 ENST00000307624.3:c.1632G>A p.Glu544= p.E544= ENST00000307624 NM_130767.2 544 gaG/gaA 0 -ACOT4 UCSF GRCh37 14 74061941 74061941 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 111 70 201 0 ENST00000326303.4:c.849G>A p.Lys283= p.K283= ENST00000326303 NM_152331.3 283 aaG/aaA 0 -ADGRF2P UCSF GRCh37 3 58520818 58520818 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 143 111 259 0 ENST00000302819.5:c.16C>T p.His6Tyr p.H6Y ENST00000302819 NM_003500.3 6 Cac/Tac 0 -ADGRF2P UCSF GRCh37 3 58510152 58510152 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 45 114 0 ENST00000302819.5:c.1526+1G>A p.X509_splice ENST00000302819 NM_003500.3 0 -ACOXL UCSF GRCh37 2 111551752 111551752 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 38 63 0 ENST00000439055.1:c.345+1G>A p.X115_splice ENST00000439055 NM_001142807.1 0 -ACP5 UCSF GRCh37 19 11688112 11688112 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 21 44 0 ENST00000592828.1:c.21G>A p.Leu7= p.L7= ENST00000592828 NM_001111034.1 7 ctG/ctA 0 -ACP6 UCSF GRCh37 1 147122026 147122026 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 47 41 76 0 ENST00000369238.6:c.897G>A p.Met299Ile p.M299I ENST00000369238 NM_016361.4 299 atG/atA 0 -ACP6 UCSF GRCh37 1 147131086 147131086 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 99 221 0 ENST00000369238.6:c.548G>A p.Cys183Tyr p.C183Y ENST00000369238 NM_016361.4 183 tGt/tAt 0 -ACP6 UCSF GRCh37 1 147131860 147131860 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 47 108 0 ENST00000369238.6:c.250C>T p.Pro84Ser p.P84S ENST00000369238 NM_016361.4 84 Cca/Tca 0 -ACP3 UCSF GRCh37 3 132068815 132068815 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 72 150 0 ENST00000351273.7:c.833C>T p.Pro278Leu p.P278L ENST00000351273 NM_001134194.1 278 cCa/cTa 0 -ACSBG2 UCSF GRCh37 19 6151774 6151774 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 14 22 0 ENST00000586696.1:c.354G>A p.Trp118Ter p.W118* ENST00000586696 118 tgG/tgA 0 -ACTG1 UCSF GRCh37 17 79477785 79477785 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 126 75 177 0 ENST00000575842.1:c.1059G>A p.Gln353= p.Q353= ENST00000575842 353 caG/caA 0 -ACTN1 UCSF GRCh37 14 69343938 69343938 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 78 47 133 0 ENST00000394419.4:c.2447G>A p.Arg816His p.R816H ENST00000394419 NM_001130004.1 816 cGc/cAc 0 -ACTN1 UCSF GRCh37 14 69347572 69347572 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 86 196 0 ENST00000394419.4:c.2088G>A p.Gln696= p.Q696= ENST00000394419 NM_001130004.1 696 caG/caA 0 -ACTR5 UCSF GRCh37 20 37396227 37396227 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 95 187 0 ENST00000243903.4:c.1554G>A p.Arg518= p.R518= ENST00000243903 NM_024855.3 518 cgG/cgA 0 -ADAM10 UCSF GRCh37 15 58938330 58938330 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P18_Rec Untested WXS Illumina HiSeq 8 0 ENST00000260408.3:c.659del p.Asn220IlefsTer23 p.N220Ifs*23 ENST00000260408 NM_001110.2 220 aAt/at 0 -ADAM15 UCSF GRCh37 1 155028467 155028467 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 53 38 103 0 ENST00000356955.2:c.735G>A p.Leu245= p.L245= ENST00000356955 NM_207197.2 245 ttG/ttA 0 -ADAM2 UCSF GRCh37 8 39624683 39624683 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 163 111 225 0 ENST00000265708.4:c.1300G>A p.Glu434Lys p.E434K ENST00000265708 NM_001464.4 434 Gaa/Aaa 0 -ADAM8 UCSF GRCh37 10 135085974 135085974 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 36 17 48 0 ENST00000445355.3:c.821G>A p.Trp274Ter p.W274* ENST00000445355 NM_001109.4 274 tGg/tAg 0 -ADAMTS13 UCSF GRCh37 9 136320640 136320640 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 30 81 0 ENST00000371929.3:c.3483G>A p.Trp1161Ter p.W1161* ENST00000371929 NM_139025.4 1161 tgG/tgA 0 -ADAMTS13 UCSF GRCh37 9 136303014 136303014 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 36 95 0 ENST00000371929.3:c.1581C>T p.Cys527= p.C527= ENST00000371929 NM_139025.4 527 tgC/tgT 0 -ADAMTS13 UCSF GRCh37 9 136313814 136313814 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 24 62 0 ENST00000371929.3:c.2826G>A p.Arg942= p.R942= ENST00000371929 NM_139025.4 942 cgG/cgA 0 -ADAMTS15 UCSF GRCh37 11 130319744 130319744 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 81 50 121 0 ENST00000299164.2:c.876C>T p.Phe292= p.F292= ENST00000299164 NM_139055.2 292 ttC/ttT 0 -ADAMTS4 UCSF GRCh37 1 161166346 161166346 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 58 34 117 0 ENST00000367996.5:c.957+1G>A p.X319_splice ENST00000367996 NM_005099.4 0 -ADAMTS9 UCSF GRCh37 3 64607929 64607929 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 63 127 0 ENST00000498707.1:c.2631G>A p.Gln877= p.Q877= ENST00000498707 NM_182920.1 877 caG/caA 0 -ADAMTSL4 UCSF GRCh37 1 150531823 150531823 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 56 115 0 ENST00000271643.4:c.2824G>A p.Gly942Arg p.G942R ENST00000271643 NM_019032.4 942 Ggg/Agg 0 -ADCK5 UCSF GRCh37 8 145618060 145618060 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 11 6 12 0 ENST00000308860.6:c.1590C>T p.Arg530= p.R530= ENST00000308860 NM_174922.4 530 cgC/cgT 0 -ADCY10 UCSF GRCh37 1 167847697 167847697 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Rec Untested WXS Illumina HiSeq 110 92 176 0 ENST00000367851.4:c.1393C>G p.Arg465Gly p.R465G ENST00000367851 NM_018417.4 465 Cgt/Ggt 0 -ADCY9 UCSF GRCh37 16 4015884 4015884 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 185 72 200 0 ENST00000294016.3:c.3954C>T p.Ala1318= p.A1318= ENST00000294016 NM_001116.3 1318 gcC/gcT 0 -ADCY9 UCSF GRCh37 16 4163830 4163830 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 265 99 244 0 ENST00000294016.3:c.1614C>T p.Tyr538= p.Y538= ENST00000294016 NM_001116.3 538 taC/taT 0 -ADH5 UCSF GRCh37 4 100006287 100006287 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 171 130 246 0 ENST00000296412.8:c.93G>A p.Lys31= p.K31= ENST00000296412 NM_000671.3 31 aaG/aaA 0 -ADORA3 UCSF GRCh37 1 112042978 112042978 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 203 148 309 0 ENST00000369716.4:c.350+2649C>T *117* ENST00000369716 NM_020683.6 0 -ADRB3 UCSF GRCh37 8 37823551 37823551 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 11 7 15 0 ENST00000345060.3:c.437G>A p.Gly146Asp p.G146D ENST00000345060 NM_000025.2 146 gGc/gAc 0 -ADRBK2 UCSF GRCh37 22 26110537 26110537 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 51 99 0 ENST00000324198.6:c.1654G>A p.Asp552Asn p.D552N ENST00000324198 NM_005160.3 552 Gat/Aat 0 -ADSL UCSF GRCh37 22 40749101 40749101 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 74 56 116 0 ENST00000216194.7:c.382C>T p.Leu128Phe p.L128F ENST00000216194 NM_000026.2 128 Ctt/Ttt 0 -AFF2 UCSF GRCh37 X 148037697 148037697 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 123 104 0 ENST00000370460.2:c.2122C>T p.Arg708Trp p.R708W ENST00000370460 NM_002025.3 708 Cgg/Tgg 0 -AFF4 UCSF GRCh37 5 132238158 132238158 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 34 90 0 ENST00000265343.5:c.1109C>T p.Thr370Ile p.T370I ENST00000265343 NM_014423.3 370 aCt/aTt 0 -AGA UCSF GRCh37 4 178357482 178357482 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 51 142 0 ENST00000264595.2:c.646G>A p.Gly216Arg p.G216R ENST00000264595 NM_001171988.1 216 Gga/Aga 0 -AGAP1 UCSF GRCh37 2 237029007 237029007 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 46 121 0 ENST00000304032.8:c.2286G>A p.Glu762= p.E762= ENST00000304032 NM_001037131.2 762 gaG/gaA 0 -AGAP5 UCSF GRCh37 10 75434558 75434558 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 66 285 0 ENST00000374094.4:c.1860G>A p.Gly620= p.G620= ENST00000374094 NM_001144000.1 620 ggG/ggA 0 -AGBL1 UCSF GRCh37 15 86790901 86790901 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 34 16 76 0 ENST00000441037.2:c.389-1G>A p.X130_splice ENST00000441037 NM_152336.2 0 -AGBL3 UCSF GRCh37 7 134674001 134674001 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 34 63 0 ENST00000436302.2:c.64G>A p.Asp22Asn p.D22N ENST00000436302 NM_178563.3 22 Gat/Aat 0 -AGBL5 UCSF GRCh37 2 27282331 27282331 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 69 151 0 ENST00000360131.4:c.2089+59G>A *697* ENST00000360131 NM_021831.5 0 -AGRP UCSF GRCh37 16 67516602 67516602 + synonymous_variant Silent SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 73 64 112 0 ENST00000290953.2:c.336C>T p.Phe112= p.F112= ENST00000290953 NM_001138.1 112 ttC/ttT 0 -AHCY UCSF GRCh37 20 32880197 32880197 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 37 88 0 ENST00000217426.2:c.412C>T p.Leu138Phe p.L138F ENST00000217426 NM_000687.2 138 Ctc/Ttc 0 -AHI1 UCSF GRCh37 6 135732643 135732643 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 162 116 240 0 ENST00000367800.4:c.2804G>A p.Gly935Glu p.G935E ENST00000367800 NM_001134830.1 935 gGa/gAa 0 -AHI1 UCSF GRCh37 6 135787067 135787067 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 164 325 0 ENST00000367800.4:c.634C>T p.Leu212= p.L212= ENST00000367800 NM_001134830.1 212 Ctg/Ttg 0 -AHNAK UCSF GRCh37 11 62284334 62284334 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 121 254 0 ENST00000378024.4:c.17555G>A p.Gly5852Glu p.G5852E ENST00000378024 NM_001620.2 5852 gGg/gAg 0 -AHNAK UCSF GRCh37 11 62294198 62294198 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 205 180 305 0 ENST00000378024.4:c.7691G>A p.Gly2564Glu p.G2564E ENST00000378024 NM_001620.2 2564 gGg/gAg 0 -AIM2 UCSF GRCh37 1 159036085 159036085 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 70 197 0 ENST00000368130.4:c.431C>T p.Ser144Phe p.S144F ENST00000368130 NM_004833.1 144 tCt/tTt 0 -AKAP11 UCSF GRCh37 13 42874392 42874392 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 110 66 188 0 ENST00000025301.2:c.1510C>T p.Leu504Phe p.L504F ENST00000025301 NM_016248.3 504 Ctt/Ttt 0 -PALM2AKAP2 UCSF GRCh37 9 112899087 112899087 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 69 67 129 0 ENST00000374530.3:c.1263C>T p.Pro421= p.P421= ENST00000374530 NM_007203.4 421 ccC/ccT 0 -AKAP3 UCSF GRCh37 12 4736817 4736817 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 172 129 258 0 ENST00000545990.2:c.1251C>T p.Asn417= p.N417= ENST00000545990 NM_001278309.1 417 aaC/aaT 0 -AKAP8L UCSF GRCh37 19 15512246 15512246 + synonymous_variant Silent SNP A A T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 34 89 0 ENST00000397410.5:c.531T>A p.Gly177= p.G177= ENST00000397410 NM_014371.2 177 ggT/ggA 0 -AKR1C1 UCSF GRCh37 10 5008159 5008159 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 269 102 207 0 ENST00000380872.4:c.138C>T p.Phe46= p.F46= ENST00000380872 NM_001353.5 46 ttC/ttT 0 -AKR1E2 UCSF GRCh37 10 4872956 4872956 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 199 76 178 0 ENST00000298375.7:c.129G>A p.Glu43= p.E43= ENST00000298375 NM_001040177.2 43 gaG/gaA 0 -AKTIP UCSF GRCh37 16 53532381 53532381 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 142 117 278 0 ENST00000394657.7:c.170C>T p.Ala57Val p.A57V ENST00000394657 NM_022476.2 57 gCc/gTc 0 -ALDH1L1 UCSF GRCh37 3 125826076 125826076 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 77 172 0 ENST00000273450.3:c.2391G>A p.Glu797= p.E797= ENST00000273450 NM_001270364.1 797 gaG/gaA 0 -ALDH3B1 UCSF GRCh37 11 67790074 67790074 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 41 70 0 ENST00000539229.1:c.955C>T p.Leu319= p.L319= ENST00000539229 NM_001161473.1 319 Ctg/Ttg 0 -ALDH3B2 UCSF GRCh37 11 67433865 67433865 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 13 17 0 ENST00000349015.3:c.159C>T p.Cys53= p.C53= ENST00000349015 NM_000695.3 53 tgC/tgT 0 -ALDH6A1 UCSF GRCh37 14 74533452 74533452 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 91 201 0 ENST00000553458.1:c.1180G>A p.Glu394Lys p.E394K ENST00000553458 NM_001278593.1 394 Gaa/Aaa 0 -ALG9 UCSF GRCh37 11 111708288 111708288 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 58 146 0 ENST00000531154.1:c.862G>A p.Asp288Asn p.D288N ENST00000531154 NM_024740.2 288 Gac/Aac 0 -ALKBH5 UCSF GRCh37 17 18110225 18110225 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 196 125 261 0 ENST00000399138.4:c.948G>A p.Arg316= p.R316= ENST00000399138 NM_017758.3 316 agG/agA 0 -ALMS1 UCSF GRCh37 2 73678109 73678109 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 165 137 267 0 ENST00000264448.6:c.4452C>T p.Ile1484= p.I1484= ENST00000264448 NM_015120.4 1484 atC/atT 0 -ALOX12B UCSF GRCh37 17 7977054 7977054 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 24 64 0 ENST00000319144.4:c.1676C>T p.Thr559Ile p.T559I ENST00000319144 NM_001139.2 559 aCc/aTc 0 -ALPL UCSF GRCh37 1 21890579 21890579 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 30 72 0 ENST00000374840.3:c.518C>T p.Thr173Ile p.T173I ENST00000374840 NM_000478.4 173 aCc/aTc 0 -ALPPL2 UCSF GRCh37 2 233274457 233274457 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 17 22 0 ENST00000295453.3:c.1474G>A p.Ala492Thr p.A492T ENST00000295453 NM_031313.2 492 Gcc/Acc 0 -ALS2CL UCSF GRCh37 3 46729143 46729143 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 22 46 0 ENST00000318962.4:c.334G>A p.Val112Met p.V112M ENST00000318962 NM_147129.3 112 Gtg/Atg 0 -ALS2CL UCSF GRCh37 3 46713075 46713075 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 58 39 88 0 ENST00000318962.4:c.2685-1G>A p.X895_splice ENST00000318962 NM_147129.3 0 -AMBRA1 UCSF GRCh37 11 46430176 46430176 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 38 73 0 ENST00000314845.3:c.3020C>T p.Thr1007Ile p.T1007I ENST00000314845 NM_017749.3 1007 aCc/aTc 0 -AMPD2 UCSF GRCh37 1 110173373 110173373 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 6 20 0 ENST00000256578.3:c.2388G>A p.Glu796= p.E796= ENST00000256578 NM_004037.7 796 gaG/gaA 0 -AMPH UCSF GRCh37 7 38534069 38534069 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 115 97 183 0 ENST00000356264.2:c.264C>T p.Asp88= p.D88= ENST00000356264 NM_001635.3 88 gaC/gaT 0 -AMT UCSF GRCh37 3 49455068 49455068 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 85 169 0 ENST00000273588.3:c.1117G>A p.Gly373Arg p.G373R ENST00000273588 NM_000481.3 373 Ggg/Agg 0 -AMY2A UCSF GRCh37 1 104160104 104160104 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 412 106 634 0 ENST00000414303.2:c.42G>A p.Trp14Ter p.W14* ENST00000414303 NM_000699.2 14 tgG/tgA 0 -ANK2 UCSF GRCh37 4 114276282 114276282 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 79 154 0 ENST00000357077.4:c.6508C>T p.Leu2170Phe p.L2170F ENST00000357077 NM_001148.4 2170 Ctc/Ttc 0 -ANK3 UCSF GRCh37 10 61898737 61898737 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 135 103 184 0 ENST00000280772.2:c.2723G>A p.Gly908Glu p.G908E ENST00000280772 NM_020987.3 908 gGa/gAa 0 -ANK3 UCSF GRCh37 10 61835701 61835701 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 66 154 0 ENST00000280772.2:c.4938C>T p.Ser1646= p.S1646= ENST00000280772 NM_020987.3 1646 tcC/tcT 0 -ANKDD1A UCSF GRCh37 15 65208096 65208096 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 30 63 0 ENST00000380230.3:c.135C>T p.Asn45= p.N45= ENST00000380230 NM_182703.3 45 aaC/aaT 0 -ANKRA2 UCSF GRCh37 5 72858513 72858513 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 184 147 257 0 ENST00000296785.3:c.194G>A p.Cys65Tyr p.C65Y ENST00000296785 NM_023039.4 65 tGt/tAt 0 -ANKRD11 UCSF GRCh37 16 89371633 89371633 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 35 64 0 ENST00000301030.4:c.207G>A p.Glu69= p.E69= ENST00000301030 NM_001256183.1 69 gaG/gaA 0 -ANKRD13B UCSF GRCh37 17 27939242 27939242 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 66 165 0 ENST00000394859.3:c.1209C>T p.Leu403= p.L403= ENST00000394859 NM_152345.4 403 ctC/ctT 0 -ANKRD13C UCSF GRCh37 1 70819858 70819858 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 60 134 0 ENST00000370944.4:c.234G>A p.Leu78= p.L78= ENST00000370944 NM_030816.4 78 ctG/ctA 0 -ANKRD13C UCSF GRCh37 1 70736609 70736609 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 34 102 0 ENST00000370944.4:c.1425C>T p.Pro475= p.P475= ENST00000370944 NM_030816.4 475 ccC/ccT 0 -ANKRD17 UCSF GRCh37 4 73957296 73957296 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 202 148 352 0 ENST00000358602.4:c.6049G>A p.Ala2017Thr p.A2017T ENST00000358602 NM_032217.3 2017 Gca/Aca 0 -ANKRD17 UCSF GRCh37 4 74017241 74017241 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 41 127 0 ENST00000358602.4:c.1235G>A p.Gly412Glu p.G412E ENST00000358602 NM_032217.3 412 gGa/gAa 0 -ANKRD2 UCSF GRCh37 10 99342361 99342361 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 66 168 0 ENST00000307518.5:c.835G>A p.Glu279Lys p.E279K ENST00000307518 279 Gaa/Aaa 0 -ANKRD20A4 UCSF GRCh37 9 69423583 69423583 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 444 83 953 0 ENST00000357336.3:c.1879G>A p.Glu627Lys p.E627K ENST00000357336 NM_001098805.1 627 Gaa/Aaa 0 -ANKRD36 UCSF GRCh37 2 97909671 97909671 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 156 93 300 0 ENST00000420699.2:c.4474C>T p.Gln1492Ter p.Q1492* ENST00000420699 NM_001164315.1 1492 Caa/Taa 0 -ANKRD57 UCSF GRCh37 2 110373562 110373562 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 49 108 0 ENST00000356454.3:c.1496G>A p.Gly499Glu p.G499E ENST00000356454 NM_023016.3 499 gGg/gAg 0 -ANKZF1 UCSF GRCh37 2 220095054 220095054 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 40 72 0 ENST00000323348.5:c.75C>T p.Val25= p.V25= ENST00000323348 NM_018089.2 25 gtC/gtT 0 -ANO10 UCSF GRCh37 3 43602826 43602826 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 80 213 0 ENST00000292246.3:c.1362G>A p.Trp454Ter p.W454* ENST00000292246 NM_018075.3 454 tgG/tgA 0 -ANO3 UCSF GRCh37 11 26484612 26484612 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 69 155 0 ENST00000256737.3:c.349G>A p.Glu117Lys p.E117K ENST00000256737 NM_031418.2 117 Gaa/Aaa 0 -ANO3 UCSF GRCh37 11 26664788 26664788 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 113 89 189 0 ENST00000256737.3:c.2335G>A p.Ala779Thr p.A779T ENST00000256737 NM_031418.2 779 Gct/Act 0 -ANXA7 UCSF GRCh37 10 75158082 75158082 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 34 79 0 ENST00000372919.4:c.116C>T p.Pro39Leu p.P39L ENST00000372919 NM_004034.2 39 cCt/cTt 0 -AOC3 UCSF GRCh37 17 41006484 41006484 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 44 33 74 0 ENST00000308423.2:c.1620G>A p.Trp540Ter p.W540* ENST00000308423 NM_003734.3 540 tgG/tgA 0 -AP1M1 UCSF GRCh37 19 16339647 16339647 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 41 86 0 ENST00000444449.2:c.991G>A p.Asp331Asn p.D331N ENST00000444449 NM_001130524.1 331 Gat/Aat 0 -AP3D1 UCSF GRCh37 19 2114812 2114812 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 40 108 0 ENST00000355272.6:c.2358G>A p.Leu786= p.L786= ENST00000355272 NM_001261826.1 786 ctG/ctA 0 -AP3M2 UCSF GRCh37 8 42025183 42025183 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 91 224 0 ENST00000518421.1:c.1012-1G>A p.X338_splice ENST00000518421 NM_001134296.1 0 -APBB1IP UCSF GRCh37 10 26856330 26856330 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 59 17 52 0 ENST00000376236.4:c.1914G>A p.Gly638= p.G638= ENST00000376236 NM_019043.3 638 ggG/ggA 0 -APBB3 UCSF GRCh37 5 139942017 139942017 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 119 256 0 ENST00000354402.5:c.419G>A p.Ser140Asn p.S140N ENST00000354402 140 aGt/aAt 0 -APC UCSF GRCh37 5 112177881 112177881 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 129 76 219 0 ENST00000257430.4:c.6590G>A p.Ser2197Asn p.S2197N ENST00000257430 NM_000038.5 2197 aGt/aAt 0 -APLP1 UCSF GRCh37 19 36362177 36362177 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 13 28 0 ENST00000221891.4:c.463G>A p.Gly155Ser p.G155S ENST00000221891 NM_001024807.1 155 Ggc/Agc 0 -APOA4 UCSF GRCh37 11 116692033 116692033 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 72 170 0 ENST00000357780.3:c.741G>A p.Lys247= p.K247= ENST00000357780 NM_000482.3 247 aaG/aaA 0 -APPBP2 UCSF GRCh37 17 58571898 58571898 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 128 93 180 0 ENST00000083182.3:c.308G>A p.Arg103Lys p.R103K ENST00000083182 NM_006380.2 103 aGg/aAg 0 -AQP12B UCSF GRCh37 2 241621893 241621893 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 25 61 0 ENST00000407834.3:c.362G>A p.Gly121Asp p.G121D ENST00000407834 NM_001102467.1 121 gGc/gAc 0 -AQPEP UCSF GRCh37 5 115298720 115298720 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 36 68 0 ENST00000357872.4:c.406C>T p.Arg136Cys p.R136C ENST00000357872 NM_173800.4 136 Cgc/Tgc 0 -ARAP2 UCSF GRCh37 4 36212219 36212219 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 160 104 270 0 ENST00000303965.4:c.1280G>A p.Arg427Lys p.R427K ENST00000303965 NM_015230.3 427 aGa/aAa 0 -ARAP2 UCSF GRCh37 4 36149369 36149369 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 30 65 0 ENST00000303965.4:c.3001-1G>A p.X1001_splice ENST00000303965 NM_015230.3 0 -ARFGEF2 UCSF GRCh37 20 47601368 47601368 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 134 88 187 0 ENST00000371917.4:c.2061C>T p.Arg687= p.R687= ENST00000371917 NM_006420.2 687 cgC/cgT 0 -ARG1 UCSF GRCh37 6 131904993 131904993 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 76 159 0 ENST00000356962.2:c.938G>A p.Gly313Glu p.G313E ENST00000356962 NM_001244438.1 313 gGa/gAa 0 -ARHGAP12 UCSF GRCh37 10 32120720 32120720 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 199 66 116 1 ENST00000344936.2:c.1395G>A p.Glu465= p.E465= ENST00000344936 NM_001270697.1 465 gaG/gaA 0 -ARHGAP17 UCSF GRCh37 16 24946897 24946897 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 31 59 0 ENST00000289968.6:c.1788G>A p.Gln596= p.Q596= ENST00000289968 NM_001006634.1 596 caG/caA 0 -ARHGAP21 UCSF GRCh37 10 24885691 24885691 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 211 74 166 0 ENST00000396432.2:c.3455G>A p.Cys1152Tyr p.C1152Y ENST00000396432 NM_020824.3 1152 tGc/tAc 0 -ARHGAP21 UCSF GRCh37 10 24922386 24922386 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 152 47 115 0 ENST00000396432.2:c.385G>A p.Gly129Arg p.G129R ENST00000396432 NM_020824.3 129 Gga/Aga 0 -ARHGAP24 UCSF GRCh37 4 86915904 86915904 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 183 158 302 0 ENST00000395184.1:c.1097C>T p.Thr366Ile p.T366I ENST00000395184 NM_001025616.2 366 aCc/aTc 0 -ARHGAP29 UCSF GRCh37 1 94643491 94643491 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 150 100 189 0 ENST00000260526.6:c.2713G>A p.Gly905Ser p.G905S ENST00000260526 NM_004815.3 905 Ggc/Agc 0 -ARHGAP29 UCSF GRCh37 1 94650550 94650550 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 32 79 0 ENST00000260526.6:c.1987C>T p.Pro663Ser p.P663S ENST00000260526 NM_004815.3 663 Cca/Tca 0 -ARHGAP29 UCSF GRCh37 1 94655595 94655595 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 55 109 0 ENST00000260526.6:c.1326C>T p.Ser442= p.S442= ENST00000260526 NM_004815.3 442 tcC/tcT 0 -ARHGAP35 UCSF GRCh37 19 47422027 47422027 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 175 149 251 0 ENST00000404338.3:c.95G>A p.Gly32Glu p.G32E ENST00000404338 NM_004491.4 32 gGg/gAg 0 -ARHGAP35 UCSF GRCh37 19 47423996 47423996 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 87 184 0 ENST00000404338.3:c.2064G>A p.Arg688= p.R688= ENST00000404338 NM_004491.4 688 cgG/cgA 0 -ARHGAP39 UCSF GRCh37 8 145759561 145759561 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 69 35 111 0 ENST00000377307.2:c.2640G>A p.Lys880= p.K880= ENST00000377307 NM_025251.1 880 aaG/aaA 0 -ARHGAP9 UCSF GRCh37 12 57869182 57869182 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 3 11 19 0 ENST00000393791.3:c.1445-1G>A p.X482_splice ENST00000393791 NM_032496.2 0 -ARHGAP9 UCSF GRCh37 12 57872322 57872322 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 75 137 0 ENST00000393791.3:c.534+1G>A p.X178_splice ENST00000393791 NM_032496.2 0 -ARHGEF17 UCSF GRCh37 11 73022664 73022664 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 65 129 0 ENST00000263674.3:c.2981C>T p.Ala994Val p.A994V ENST00000263674 NM_014786.3 994 gCc/gTc 0 -ARHGEF17 UCSF GRCh37 11 73076881 73076881 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 40 104 0 ENST00000263674.3:c.5884C>T p.Pro1962Ser p.P1962S ENST00000263674 NM_014786.3 1962 Ccc/Tcc 0 -ARID1A UCSF GRCh37 1 27101587 27101587 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 88 173 0 ENST00000324856.7:c.4869G>A p.Ser1623= p.S1623= ENST00000324856 NM_006015.4 1623 tcG/tcA 0 -ARL4D UCSF GRCh37 17 41477501 41477501 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 29 15 46 0 ENST00000320033.4:c.401C>T p.Ala134Val p.A134V ENST00000320033 NM_001661.3 134 gCc/gTc 0 -ARMC8 UCSF GRCh37 3 137956329 137956329 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 59 147 0 ENST00000481646.1:c.649G>A p.Val217Ile p.V217I ENST00000481646 NM_015396.4 217 Gtt/Att 0 -BMAL2 UCSF GRCh37 12 27554297 27554297 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 80 171 0 ENST00000266503.5:c.1267+1G>A p.X423_splice ENST00000266503 0 -ARSI UCSF GRCh37 5 149678062 149678062 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 47 70 0 ENST00000328668.7:c.425C>T p.Thr142Ile p.T142I ENST00000328668 NM_001012301.2 142 aCc/aTc 0 -ASB14 UCSF GRCh37 3 57322030 57322030 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P18_Rec Untested WXS Illumina HiSeq 6 0 ENST00000487349.1:c.368del p.Leu123TrpfsTer8 p.L123Wfs*8 ENST00000487349 NM_001142733.2 123 tTg/tg 0 -ASB14 UCSF GRCh37 3 57317424 57317424 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 64 141 0 ENST00000487349.1:c.513C>T p.Asn171= p.N171= ENST00000487349 NM_001142733.2 171 aaC/aaT 0 -ASCL4 UCSF GRCh37 12 108169329 108169329 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 8 17 0 ENST00000342331.4:c.337G>A p.Glu113Lys p.E113K ENST00000342331 NM_203436.2 113 Gag/Aag 0 -ASH1L UCSF GRCh37 1 155449560 155449560 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 109 198 0 ENST00000392403.3:c.3101G>A p.Gly1034Asp p.G1034D ENST00000392403 NM_018489.2 1034 gGc/gAc 0 -ASH1L UCSF GRCh37 1 155451426 155451426 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 89 220 0 ENST00000392403.3:c.1235C>T p.Pro412Leu p.P412L ENST00000392403 NM_018489.2 412 cCt/cTt 0 -ASTN2 UCSF GRCh37 9 119568068 119568068 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 113 266 0 ENST00000361209.2:c.2086G>A p.Gly696Arg p.G696R ENST00000361209 NM_014010.4 696 Gga/Aga 0 -ASTN2 UCSF GRCh37 9 120053656 120053656 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 37 88 0 ENST00000361209.2:c.579G>A p.Glu193= p.E193= ENST00000361209 NM_014010.4 193 gaG/gaA 0 -ASXL3 UCSF GRCh37 18 31326351 31326351 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 151 108 207 0 ENST00000269197.5:c.6539G>A p.Ser2180Asn p.S2180N ENST00000269197 NM_030632.1 2180 aGt/aAt 0 -ATAD3A UCSF GRCh37 1 1464667 1464667 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 21 15 40 0 ENST00000378755.5:c.1714G>A p.Gly572Ser p.G572S ENST00000378755 NM_018188.3 572 Ggc/Agc 0 -ATF7IP UCSF GRCh37 12 14631306 14631306 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 177 125 271 0 ENST00000261168.4:c.2997G>A p.Val999= p.V999= ENST00000261168 NM_018179.3 999 gtG/gtA 0 -ATG14 UCSF GRCh37 14 55836494 55836494 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 102 62 154 0 ENST00000247178.5:c.1322C>T p.Pro441Leu p.P441L ENST00000247178 NM_014924.4 441 cCc/cTc 0 -ATG2B UCSF GRCh37 14 96772039 96772039 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 65 127 0 ENST00000359933.4:c.4620C>T p.His1540= p.H1540= ENST00000359933 NM_018036.5 1540 caC/caT 0 -ATG3 UCSF GRCh37 3 112280342 112280342 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 16 60 0 ENST00000283290.5:c.34G>A p.Ala12Thr p.A12T ENST00000283290 NM_022488.4 12 Gca/Aca 0 -ATG9B UCSF GRCh37 7 150720273 150720273 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 172 116 229 0 ENST00000377974.2:c.680C>T p.Thr227Ile p.T227I ENST00000377974 227 aCc/aTc 0 -ATIC UCSF GRCh37 2 216177284 216177284 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 111 91 211 0 ENST00000236959.9:c.83G>A p.Gly28Asp p.G28D ENST00000236959 NM_004044.6 28 gGt/gAt 0 -ATM UCSF GRCh37 11 108183179 108183179 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 94 231 0 ENST00000278616.4:c.5960C>T p.Ser1987Phe p.S1987F ENST00000278616 NM_000051.3 1987 tCt/tTt 0 -ATP10D UCSF GRCh37 4 47537949 47537949 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 93 156 0 ENST00000273859.3:c.914G>A p.Ser305Asn p.S305N ENST00000273859 NM_020453.3 305 aGt/aAt 0 -ATP11B UCSF GRCh37 3 182554943 182554943 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 61 138 0 ENST00000323116.5:c.637C>T p.Pro213Ser p.P213S ENST00000323116 NM_014616.2 213 Cca/Tca 0 -ATP13A1 UCSF GRCh37 19 19767531 19767531 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 46 123 0 ENST00000357324.6:c.1021C>T p.Leu341= p.L341= ENST00000357324 NM_020410.2 341 Ctg/Ttg 0 -ATP13A5 UCSF GRCh37 3 193007755 193007755 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 65 132 0 ENST00000342358.4:c.2942C>T p.Ser981Phe p.S981F ENST00000342358 NM_198505.2 981 tCc/tTc 0 -ATP13A5 UCSF GRCh37 3 193032873 193032873 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 135 87 238 0 ENST00000342358.4:c.2046G>A p.Glu682= p.E682= ENST00000342358 NM_198505.2 682 gaG/gaA 0 -ATP1A2 UCSF GRCh37 1 160099137 160099137 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 168 137 236 0 ENST00000361216.3:c.1408G>A p.Asp470Asn p.D470N ENST00000361216 NM_000702.3 470 Gac/Aac 0 -ATP1A4 UCSF GRCh37 1 160136808 160136808 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 60 127 0 ENST00000368081.4:c.1297G>A p.Ala433Thr p.A433T ENST00000368081 NM_144699.3 433 Gct/Act 0 -ATP2A1 UCSF GRCh37 16 28893772 28893772 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 146 42 103 0 ENST00000357084.3:c.325G>A p.Glu109Lys p.E109K ENST00000357084 NM_173201.3 109 Gag/Aag 0 -ATP2B1 UCSF GRCh37 12 89992395 89992395 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 215 142 282 0 ENST00000428670.3:c.3351+499C>T *1117* ENST00000428670 0 -ATP2B2 UCSF GRCh37 3 10401790 10401790 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 23 74 0 ENST00000360273.2:c.1677C>T p.Gly559= p.G559= ENST00000360273 NM_001001331.2 559 ggC/ggT 0 -ATP2B4 UCSF GRCh37 1 203676351 203676351 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 63 44 114 0 ENST00000357681.5:c.1314G>A p.Lys438= p.K438= ENST00000357681 NM_001684.4 438 aaG/aaA 0 -ATP4A UCSF GRCh37 19 36051518 36051518 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 22 40 0 ENST00000262623.3:c.535-1G>A p.X179_splice ENST00000262623 NM_000704.2 0 -ATP5B UCSF GRCh37 12 57036564 57036564 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 80 166 0 ENST00000262030.3:c.844G>A p.Val282Ile p.V282I ENST00000262030 NM_001686.3 282 Gta/Ata 0 -ATP5D UCSF GRCh37 19 1244102 1244102 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 10 16 0 ENST00000215375.2:c.302G>A p.Ser101Asn p.S101N ENST00000215375 NM_001687.4 101 aGc/aAc 0 -ATP6V1B1 UCSF GRCh37 2 71191996 71191996 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 59 55 91 0 ENST00000234396.4:c.1378+1G>A p.X460_splice ENST00000234396 NM_001692.3 0 -ATP7B UCSF GRCh37 13 52511448 52511448 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 62 138 0 ENST00000242839.4:c.3985C>T p.Leu1329= p.L1329= ENST00000242839 NM_000053.3 1329 Ctg/Ttg 0 -ATP8B2 UCSF GRCh37 1 154310054 154310054 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 111 219 0 ENST00000368489.3:c.1133+34G>A *378* ENST00000368489 NM_020452.3 0 -ATP8B4 UCSF GRCh37 15 50190448 50190448 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 53 100 0 ENST00000284509.6:c.2290G>A p.Ala764Thr p.A764T ENST00000284509 NM_024837.3 764 Gct/Act 0 -ATPIF1 UCSF GRCh37 1 28562889 28562889 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 62 143 0 ENST00000335514.5:c.105G>A p.Arg35= p.R35= ENST00000335514 NM_016311.4 35 cgG/cgA 0 -ATRN UCSF GRCh37 20 3624900 3624900 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 93 176 0 ENST00000262919.5:c.4150C>T p.Pro1384Ser p.P1384S ENST00000262919 NM_139321.2 1384 Cct/Tct 0 -ATRN UCSF GRCh37 20 3624889 3624889 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 77 162 0 ENST00000262919.5:c.4139G>A p.Gly1380Asp p.G1380D ENST00000262919 NM_139321.2 1380 gGt/gAt 0 -ATRN UCSF GRCh37 20 3556596 3556596 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 60 138 0 ENST00000262919.5:c.2214+1G>A p.X738_splice ENST00000262919 NM_139321.2 0 -ATRN UCSF GRCh37 20 3575208 3575208 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 36 23 78 0 ENST00000262919.5:c.3405C>T p.Asp1135= p.D1135= ENST00000262919 NM_139321.2 1135 gaC/gaT 0 -ATRX UCSF GRCh37 X 76918998 76918999 + frameshift_variant Frame_Shift_Ins INS - - A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 62 0 ENST00000373344.5:c.3993dup p.Lys1332Ter p.K1332* ENST00000373344 NM_000489.3 1331 tct/tcTt 0 -ATXN1 UCSF GRCh37 6 16326873 16326873 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 63 49 117 1 ENST00000244769.4:c.1669G>A p.Val557Met p.V557M ENST00000244769 NM_000332.3 557 Gtg/Atg 0 -ATXN7L1 UCSF GRCh37 7 105254967 105254967 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 85 165 0 ENST00000419735.3:c.1814C>T p.Ser605Phe p.S605F ENST00000419735 NM_020725.1 605 tCc/tTc 0 -AURKC UCSF GRCh37 19 57744827 57744827 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 65 150 0 ENST00000302804.7:c.436-1G>A p.X146_splice ENST00000302804 NM_001015878.1 0 -AUTS2 UCSF GRCh37 7 69755436 69755436 + intron_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 123 111 208 0 ENST00000342771.4:c.661-145302C>T *221* ENST00000342771 NM_015570.2 0 -AVP UCSF GRCh37 20 3065294 3065294 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 80 129 0 ENST00000380293.3:c.27C>T p.Cys9= p.C9= ENST00000380293 NM_000490.4 9 tgC/tgT 0 -AVPI1 UCSF GRCh37 10 99439523 99439523 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 16 66 0 ENST00000370626.3:c.140G>A p.Gly47Glu p.G47E ENST00000370626 NM_021732.2 47 gGg/gAg 0 -AVPR1B UCSF GRCh37 1 206224614 206224614 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 48 133 0 ENST00000367126.4:c.174C>T p.Thr58= p.T58= ENST00000367126 NM_000707.3 58 acC/acT 0 -AXIN2 UCSF GRCh37 17 63554369 63554369 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 183 128 254 0 ENST00000307078.5:c.370G>A p.Asp124Asn p.D124N ENST00000307078 NM_004655.3 124 Gat/Aat 0 -AXIN2 UCSF GRCh37 17 63526149 63526149 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 91 195 0 ENST00000307078.5:c.2477C>T p.Thr826Met p.T826M ENST00000307078 NM_004655.3 826 aCg/aTg 0 -AZI2 UCSF GRCh37 3 28378370 28378370 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 76 186 0 ENST00000479665.1:c.446G>A p.Arg149Lys p.R149K ENST00000479665 NM_022461.4 149 aGg/aAg 0 -B3GALT5 UCSF GRCh37 21 41033171 41033171 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 82 214 0 ENST00000380620.4:c.685G>A p.Val229Met p.V229M ENST00000380620 229 Gtg/Atg 0 -B3GNT7 UCSF GRCh37 2 232262835 232262835 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 41 93 0 ENST00000287590.5:c.405C>T p.Tyr135= p.Y135= ENST00000287590 NM_145236.2 135 taC/taT 0 -B4GALNT2 UCSF GRCh37 17 47210398 47210398 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 24 37 0 ENST00000300404.2:c.11C>T p.Ala4Val p.A4V ENST00000300404 NM_153446.2 4 gCt/gTt 0 -B4GALNT2 UCSF GRCh37 17 47246984 47246984 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 58 142 0 ENST00000300404.2:c.1595C>T p.Ala532Val p.A532V ENST00000300404 NM_153446.2 532 gCt/gTt 0 -B4GALNT2 UCSF GRCh37 17 47247083 47247083 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 47 41 99 0 ENST00000300404.2:c.1694C>T p.Ala565Val p.A565V ENST00000300404 NM_153446.2 565 gCc/gTc 0 -B4GALT5 UCSF GRCh37 20 48257080 48257080 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 82 198 1 ENST00000371711.4:c.729C>T p.Arg243= p.R243= ENST00000371711 NM_004776.3 243 cgC/cgT 0 -BACH1 UCSF GRCh37 21 30714969 30714969 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 61 183 0 ENST00000399921.1:c.2026C>T p.Pro676Ser p.P676S ENST00000399921 NM_206866.1 676 Cct/Tct 0 -BACH2 UCSF GRCh37 6 90718495 90718495 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 67 145 0 ENST00000257749.4:c.69C>T p.Ile23= p.I23= ENST00000257749 NM_021813.2 23 atC/atT 0 -BAG2 UCSF GRCh37 6 57048790 57048790 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 76 183 0 ENST00000370693.5:c.438G>A p.Val146= p.V146= ENST00000370693 NM_004282.3 146 gtG/gtA 0 -BAIAP3 UCSF GRCh37 16 1397301 1397301 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 36 9 31 0 ENST00000324385.5:c.2859C>T p.Ala953= p.A953= ENST00000324385 NM_003933.4 953 gcC/gcT 0 -BANK1 UCSF GRCh37 4 102984291 102984291 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 33 108 0 ENST00000322953.4:c.2208C>T p.Val736= p.V736= ENST00000322953 NM_017935.4 736 gtC/gtT 0 -BAZ2B UCSF GRCh37 2 160269006 160269006 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 51 101 0 ENST00000392783.2:c.2517G>A p.Arg839= p.R839= ENST00000392783 NM_013450.2 839 agG/agA 0 -BBS7 UCSF GRCh37 4 122768661 122768661 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 91 181 0 ENST00000264499.4:c.935G>A p.Gly312Asp p.G312D ENST00000264499 NM_176824.2 312 gGc/gAc 0 -BBX UCSF GRCh37 3 107497265 107497265 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 84 194 0 ENST00000325805.8:c.2102C>T p.Pro701Leu p.P701L ENST00000325805 701 cCt/cTt 0 -BCAR3 UCSF GRCh37 1 94032835 94032835 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 64 119 0 ENST00000370244.1:c.2299+1G>A p.X767_splice ENST00000370244 NM_001261408.1 0 -BCAT2 UCSF GRCh37 19 49300543 49300543 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 23 40 0 ENST00000316273.6:c.743G>A p.Gly248Asp p.G248D ENST00000316273 NM_001190.3 248 gGc/gAc 0 -BCL11A UCSF GRCh37 2 60688867 60688867 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 73 113 0 ENST00000335712.6:c.1180G>A p.Val394Met p.V394M ENST00000335712 NM_022893.3 394 Gtg/Atg 0 -BCL11B UCSF GRCh37 14 99723979 99723979 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 67 129 0 ENST00000357195.3:c.256G>A p.Gly86Ser p.G86S ENST00000357195 NM_138576.2 86 Ggt/Agt 0 -BCL11B UCSF GRCh37 14 99724090 99724090 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 58 107 0 ENST00000357195.3:c.145G>A p.Gly49Ser p.G49S ENST00000357195 NM_138576.2 49 Ggt/Agt 0 -BCL9L UCSF GRCh37 11 118770897 118770897 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 10 47 0 ENST00000334801.3:c.3135G>A p.Pro1045= p.P1045= ENST00000334801 NM_182557.2 1045 ccG/ccA 0 -BCLAF1 UCSF GRCh37 6 136597646 136597646 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 110 83 246 0 ENST00000531224.1:c.1017G>A p.Arg339= p.R339= ENST00000531224 NM_001077441.1 339 agG/agA 0 -BCORL1 UCSF GRCh37 X 129148508 129148508 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 7 50 77 0 ENST00000540052.1:c.1760C>T p.Thr587Ile p.T587I ENST00000540052 NM_021946.4 587 aCc/aTc 0 -BDP1 UCSF GRCh37 5 70819776 70819776 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 72 176 0 ENST00000358731.4:c.5398C>T p.Pro1800Ser p.P1800S ENST00000358731 NM_018429.2 1800 Ccg/Tcg 0 -BEX2 UCSF GRCh37 X 102564611 102564611 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 152 153 0 ENST00000536889.1:c.390G>A p.Lys130= p.K130= ENST00000536889 NM_001168400.1 130 aaG/aaA 0 -BHLHE40 UCSF GRCh37 3 5024966 5024966 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 317 75 178 0 ENST00000256495.3:c.828C>T p.Gly276= p.G276= ENST00000256495 NM_003670.2 276 ggC/ggT 0 -BIN1 UCSF GRCh37 2 127808783 127808783 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 20 33 0 ENST00000316724.5:c.1408C>T p.Pro470Ser p.P470S ENST00000316724 NM_139343.2 470 Cct/Tct 0 -BLM UCSF GRCh37 15 91328173 91328173 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 139 252 0 ENST00000355112.3:c.2685C>T p.Cys895= p.C895= ENST00000355112 NM_000057.2 895 tgC/tgT 0 -BMP4 UCSF GRCh37 14 54417031 54417031 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 60 50 109 0 ENST00000245451.4:c.946G>A p.Asp316Asn p.D316N ENST00000245451 NM_001202.3 316 Gac/Aac 0 -BOD1L UCSF GRCh37 4 13603033 13603033 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 222 159 354 0 ENST00000040738.5:c.5491G>A p.Asp1831Asn p.D1831N ENST00000040738 NM_148894.2 1831 Gac/Aac 0 -BOD1L UCSF GRCh37 4 13616011 13616011 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 80 212 0 ENST00000040738.5:c.983G>A p.Ser328Asn p.S328N ENST00000040738 NM_148894.2 328 aGc/aAc 0 -BPHL UCSF GRCh37 6 3140744 3140744 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 166 88 214 0 ENST00000380379.5:c.788+1G>A p.X263_splice ENST00000380379 NM_004332.2 0 -BPIFB1 UCSF GRCh37 20 31897518 31897518 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 74 54 138 1 ENST00000253354.1:c.1400C>T p.Ala467Val p.A467V ENST00000253354 NM_033197.2 467 gCc/gTc 0 -BPIFB3 UCSF GRCh37 20 31644420 31644420 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 77 180 0 ENST00000375494.3:c.197G>A p.Gly66Asp p.G66D ENST00000375494 NM_182658.1 66 gGc/gAc 0 -BPTF UCSF GRCh37 17 65955886 65955886 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 61 112 0 ENST00000306378.6:c.8156C>T p.Ser2719Phe p.S2719F ENST00000306378 NM_182641.3 2719 tCc/tTc 0 -BRCA1 UCSF GRCh37 17 41215370 41215370 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 45 125 0 ENST00000357654.3:c.5173G>A p.Glu1725Lys p.E1725K ENST00000357654 NM_007294.3 1725 Gaa/Aaa 0 -BRCA2 UCSF GRCh37 13 32910602 32910602 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 61 148 0 ENST00000380152.3:c.2110C>T p.Pro704Ser p.P704S ENST00000380152 704 Cca/Tca 0 -BRCA2 UCSF GRCh37 13 32930720 32930720 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 145 85 262 0 ENST00000380152.3:c.7591G>A p.Val2531Ile p.V2531I ENST00000380152 2531 Gtt/Att 0 -BRD1 UCSF GRCh37 22 50187939 50187939 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 43 93 0 ENST00000216267.8:c.2102A>T p.Asp701Val p.D701V ENST00000216267 NM_014577.1 701 gAc/gTc 0 -BRD2 UCSF GRCh37 6 32944590 32944590 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 160 132 238 0 ENST00000395289.2:c.1077G>A p.Glu359= p.E359= ENST00000395289 359 gaG/gaA 0 -BRF1 UCSF GRCh37 14 105685573 105685573 + splice_region_variant,intron_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 62 51 126 0 ENST00000546474.1:c.1378-4C>T p.X460_splice ENST00000546474 NM_001519.3 0 -BRI3 UCSF GRCh37 7 97920429 97920429 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 64 48 118 0 ENST00000297290.3:c.252G>A p.Gly84= p.G84= ENST00000297290 NM_015379.4 84 ggG/ggA 0 -BRPF1 UCSF GRCh37 3 9775866 9775866 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 60 131 0 ENST00000383829.2:c.42G>A p.Leu14= p.L14= ENST00000383829 NM_001003694.1 14 ttG/ttA 0 -BRPF3 UCSF GRCh37 6 36178173 36178173 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 78 146 0 ENST00000357641.6:c.2047C>T p.Arg683Trp p.R683W ENST00000357641 NM_015695.2 683 Cgg/Tgg 0 -BRPF3 UCSF GRCh37 6 36185780 36185780 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 62 121 0 ENST00000357641.6:c.3076G>A p.Ala1026Thr p.A1026T ENST00000357641 NM_015695.2 1026 Gct/Act 0 -BSND UCSF GRCh37 1 55473906 55473906 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 36 23 78 0 ENST00000371265.4:c.568G>A p.Gly190Ser p.G190S ENST00000371265 NM_057176.2 190 Ggc/Agc 0 -BTBD9 UCSF GRCh37 6 38545422 38545422 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 74 182 0 ENST00000481247.1:c.1108C>T p.Leu370= p.L370= ENST00000481247 NM_052893.1 370 Ctg/Ttg 0 -BTD UCSF GRCh37 3 15686403 15686403 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 132 99 209 0 ENST00000303498.5:c.1040C>T p.Ala347Val p.A347V ENST00000303498 NM_000060.2 347 gCa/gTa 0 -BTN2A2 UCSF GRCh37 6 26385433 26385433 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 62 162 0 ENST00000356709.4:c.285G>A p.Glu95= p.E95= ENST00000356709 NM_001197240.1 95 gaG/gaA 0 -BUD13 UCSF GRCh37 11 116633778 116633778 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 96 257 0 ENST00000260210.4:c.527C>T p.Pro176Leu p.P176L ENST00000260210 NM_032725.3 176 cCt/cTt 0 -BZRAP1 UCSF GRCh37 17 56382433 56382433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 41 28 63 0 ENST00000343736.4:c.5533G>A p.Ala1845Thr p.A1845T ENST00000343736 1845 Gct/Act 0 -C10orf10 UCSF GRCh37 10 45473473 45473473 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 39 77 0 ENST00000298295.3:c.6G>A p.Arg2= p.R2= ENST00000298295 NM_007021.3 2 agG/agA 0 -LCOR UCSF GRCh37 10 98744434 98744434 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 72 157 0 ENST00000286067.2:c.3287G>A p.Ser1096Asn p.S1096N ENST00000286067 NM_015652.2 1096 aGc/aAc 0 -C10orf92 UCSF GRCh37 10 134647012 134647012 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 34 141 0 ENST00000368586.5:c.6967G>A p.Val2323Ile p.V2323I ENST00000368586 NM_001200049.2 2323 Gtt/Att 0 -C11orf2 UCSF GRCh37 11 64875733 64875733 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 18 6 26 0 ENST00000279281.3:c.790C>T p.Pro264Ser p.P264S ENST00000279281 NM_013265.3 264 Cct/Tct 0 -C11orf34 UCSF GRCh37 11 112123133 112123133 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 59 141 0 ENST00000338832.2:c.387-1G>A p.X129_splice ENST00000338832 NM_001145024.1 0 -C11orf41 UCSF GRCh37 11 33680437 33680437 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 42 33 54 0 ENST00000321505.4:c.5109T>C p.Asn1703= p.N1703= ENST00000321505 1703 aaT/aaC 0 -C11orf67 UCSF GRCh37 11 77553552 77553552 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 101 48 136 0 ENST00000526415.1:c.10C>T p.Pro4Ser p.P4S ENST00000526415 4 Cct/Tct 0 -C11orf80 UCSF GRCh37 11 66583523 66583523 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 98 202 0 ENST00000360962.4:c.1190-1G>A p.X397_splice ENST00000360962 NM_024650.3 0 -C12orf41 UCSF GRCh37 12 49054188 49054188 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 94 192 0 ENST00000420613.2:c.1188G>A p.Glu396= p.E396= ENST00000420613 NM_017822.3 396 gaG/gaA 0 -C12orf51 UCSF GRCh37 12 112605305 112605305 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 34 102 0 ENST00000550722.1:c.11912G>A p.Gly3971Glu p.G3971E ENST00000550722 NM_001109662.3 3971 gGg/gAg 0 -C13orf35 UCSF GRCh37 13 113333890 113333890 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 17 83 0 ENST00000356049.1:c.197G>A p.Gly66Asp p.G66D ENST00000356049 NM_207440.1 66 gGt/gAt 0 -C14orf169 UCSF GRCh37 14 73959400 73959400 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 56 48 111 0 ENST00000304061.5:n.1755G>A *585* ENST00000304061 0 -C14orf93 UCSF GRCh37 14 23467838 23467838 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 60 60 127 0 ENST00000299088.6:c.395G>A p.Gly132Glu p.G132E ENST00000299088 NM_001130708.1 132 gGg/gAg 0 -C15orf2 UCSF GRCh37 15 24921955 24921955 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 72 143 0 ENST00000329468.2:c.941G>A p.Ser314Asn p.S314N ENST00000329468 NM_018958.2 314 aGc/aAc 0 -C15orf38 UCSF GRCh37 15 90454051 90454051 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 44 77 0 ENST00000357484.5:c.93G>A p.Gly31= p.G31= ENST00000357484 NM_182616.2 31 ggG/ggA 0 -C15orf48 UCSF GRCh37 15 45723270 45723270 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 81 231 0 ENST00000344300.3:c.108G>A p.Trp36Ter p.W36* ENST00000344300 NM_032413.3 36 tgG/tgA 0 -C16orf11 UCSF GRCh37 16 613964 613964 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 8 13 0 ENST00000409413.3:c.670G>A p.Gly224Arg p.G224R ENST00000409413 NM_145270.2 224 Ggg/Agg 0 -C16orf79 UCSF GRCh37 16 2260557 2260557 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 27 37 0 ENST00000328540.3:c.146G>A p.Gly49Glu p.G49E ENST00000328540 NM_182563.3 49 gGa/gAa 0 -C16orf88 UCSF GRCh37 16 19722714 19722714 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 57 100 0 ENST00000219837.7:c.967G>A p.Asp323Asn p.D323N ENST00000219837 NM_001012991.2 323 Gat/Aat 0 -C16orf93 UCSF GRCh37 16 30770562 30770562 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 64 150 0 ENST00000543610.1:c.664C>T p.Leu222= p.L222= ENST00000543610 NM_001014979.2 222 Ctg/Ttg 0 -C17orf104 UCSF GRCh37 17 42745396 42745396 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 79 223 0 ENST00000409122.2:c.2117C>T p.Ser706Phe p.S706F ENST00000409122 NM_001145080.2 706 tCc/tTc 0 -C17orf108 UCSF GRCh37 17 26207345 26207345 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 126 85 210 0 ENST00000379103.3:c.174G>A p.Gln58= p.Q58= ENST00000379103 NM_001076680.1 58 caG/caA 0 -C17orf61 UCSF GRCh37 17 7306428 7306428 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 71 141 0 ENST00000302422.3:c.299G>A p.Gly100Glu p.G100E ENST00000302422 NM_152766.3 100 gGa/gAa 0 -C17orf74 UCSF GRCh37 17 7330367 7330367 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 22 49 0 ENST00000333870.3:c.1057C>T p.Leu353Phe p.L353F ENST00000333870 NM_175734.4 353 Ctt/Ttt 0 -C19orf55 UCSF GRCh37 19 36258896 36258896 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 8 17 0 ENST00000544099.1:c.1149G>A p.Pro383= p.P383= ENST00000544099 383 ccG/ccA 0 -C1orf101 UCSF GRCh37 1 244715903 244715903 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 145 103 214 0 ENST00000366534.4:c.816C>T p.Ile272= p.I272= ENST00000366534 NM_001130957.1 272 atC/atT 0 -C1orf141 UCSF GRCh37 1 67559268 67559268 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 54 119 0 ENST00000371007.2:c.623C>T p.Pro208Leu p.P208L ENST00000371007 208 cCc/cTc 0 -C1orf146 UCSF GRCh37 1 92710342 92710342 + synonymous_variant Silent SNP G G C NOVEL P18_Rec Untested WXS Illumina HiSeq 74 50 131 0 ENST00000370375.3:c.336G>C p.Leu112= p.L112= ENST00000370375 NM_001012425.1 112 ctG/ctC 0 -C1orf172 UCSF GRCh37 1 27278215 27278215 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 40 93 0 ENST00000320567.5:c.657C>T p.Phe219= p.F219= ENST00000320567 NM_152365.2 219 ttC/ttT 0 -C1orf174 UCSF GRCh37 1 3806606 3806606 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 69 163 0 ENST00000361605.3:c.650C>T p.Ser217Leu p.S217L ENST00000361605 NM_207356.2 217 tCa/tTa 0 -C1orf177 UCSF GRCh37 1 55273208 55273208 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 14 22 0 ENST00000371273.3:c.202G>A p.Gly68Ser p.G68S ENST00000371273 NM_001110533.1 68 Ggc/Agc 0 -C1orf185 UCSF GRCh37 1 51578242 51578242 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 48 137 0 ENST00000371759.2:c.122+1G>A p.X41_splice ENST00000371759 NM_001136508.1 0 -C1orf201 UCSF GRCh37 1 24687346 24687346 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 153 138 261 0 ENST00000374409.1:c.923G>A p.Gly308Asp p.G308D ENST00000374409 NM_001199012.1 308 gGc/gAc 0 -C1orf55 UCSF GRCh37 1 226176044 226176044 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 89 179 0 ENST00000272091.7:c.687G>A p.Glu229= p.E229= ENST00000272091 NM_152608.3 229 gaG/gaA 0 -C1orf9 UCSF GRCh37 1 172525047 172525047 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 76 46 122 0 ENST00000263688.3:c.327G>A p.Glu109= p.E109= ENST00000263688 NM_014283.3 109 gaG/gaA 0 -C1QC UCSF GRCh37 1 22974240 22974240 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 49 132 0 ENST00000374639.3:c.702C>T p.Asp234= p.D234= ENST00000374639 NM_001114101.1 234 gaC/gaT 0 -C1QL1 UCSF GRCh37 17 43037688 43037688 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 53 93 0 ENST00000253407.3:c.645C>T p.Tyr215= p.Y215= ENST00000253407 NM_006688.3 215 taC/taT 0 -C1QTNF7 UCSF GRCh37 4 15444252 15444252 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 97 193 0 ENST00000295297.4:c.720G>A p.Gly240= p.G240= ENST00000295297 NM_001135170.1 240 ggG/ggA 0 -C1S UCSF GRCh37 12 7172428 7172428 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 57 128 0 ENST00000406697.1:c.542C>T p.Thr181Ile p.T181I ENST00000406697 181 aCt/aTt 0 -C20orf118 UCSF GRCh37 20 35515860 35515860 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 85 155 0 ENST00000217320.3:c.441C>T p.Val147= p.V147= ENST00000217320 NM_080628.1 147 gtC/gtT 0 -C20orf152 UCSF GRCh37 20 34571991 34571991 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 60 110 0 ENST00000349339.1:c.495G>A p.Lys165= p.K165= ENST00000349339 NM_080834.2 165 aaG/aaA 0 -C20orf173 UCSF GRCh37 20 34117064 34117064 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 33 76 0 ENST00000444723.1:c.139C>T p.Pro47Ser p.P47S ENST00000444723 NM_001145350.1 47 Cct/Tct 0 -C20orf194 UCSF GRCh37 20 3296417 3296417 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 119 76 171 0 ENST00000252032.9:c.1555G>A p.Val519Ile p.V519I ENST00000252032 NM_001009984.2 519 Gta/Ata 0 -C20orf194 UCSF GRCh37 20 3305607 3305607 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 119 95 219 0 ENST00000252032.9:c.1197G>A p.Glu399= p.E399= ENST00000252032 NM_001009984.2 399 gaG/gaA 0 -C20orf203 UCSF GRCh37 20 31238448 31238448 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 13 20 0 ENST00000608990.1:n.944G>A *315* ENST00000608990 0 -C20orf4 UCSF GRCh37 20 34828399 34828399 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 69 163 0 ENST00000373932.3:c.609G>A p.Gly203= p.G203= ENST00000373932 NM_015511.4 203 ggG/ggA 0 -C20orf43 UCSF GRCh37 20 55088414 55088414 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 13 29 0 ENST00000023939.4:c.521G>A p.Gly174Asp p.G174D ENST00000023939 NM_016407.3 174 gGc/gAc 0 -C20orf54 UCSF GRCh37 20 745983 745983 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 67 43 87 0 ENST00000217254.7:c.436G>A p.Gly146Arg p.G146R ENST00000217254 NM_033409.3 146 Gga/Aga 0 -C20orf79 UCSF GRCh37 20 18794477 18794477 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 63 143 0 ENST00000377428.2:c.18C>T p.Asp6= p.D6= ENST00000377428 NM_178483.2 6 gaC/gaT 0 -C22orf13 UCSF GRCh37 22 24944004 24944004 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 51 77 0 ENST00000407471.3:c.166G>A p.Ala56Thr p.A56T ENST00000407471 NM_001284251.1 56 Gcc/Acc 0 -C22orf28 UCSF GRCh37 22 32793982 32793982 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 90 179 0 ENST00000216038.5:c.760G>A p.Val254Met p.V254M ENST00000216038 NM_014306.4 254 Gtg/Atg 0 -C2CD3 UCSF GRCh37 11 73789637 73789637 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 85 200 0 ENST00000313663.7:c.4126G>A p.Glu1376Lys p.E1376K ENST00000313663 NM_015531.4 1376 Gaa/Aaa 0 -C2orf16 UCSF GRCh37 2 27799614 27799614 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 82 138 0 ENST00000408964.2:c.175G>A p.Asp59Asn p.D59N ENST00000408964 NM_032266.3 59 Gat/Aat 0 -C2orf40 UCSF GRCh37 2 106694240 106694240 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.002,1000g2011may_all_0.0054,snp132_rs117849769 P18_Rec Untested WXS Illumina HiSeq 129 106 196 0 ENST00000238044.3:c.305C>T p.Thr102Ile p.T102I ENST00000238044 NM_032411.2 102 aCc/aTc 0 -C2orf44 UCSF GRCh37 2 24260791 24260791 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 76 151 0 ENST00000295148.4:c.1574C>T p.Pro525Leu p.P525L ENST00000295148 NM_025203.2 525 cCc/cTc 0 -C2orf67 UCSF GRCh37 2 210896241 210896241 + stop_gained Nonsense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 194 151 283 1 ENST00000281772.9:c.2059G>T p.Gly687Ter p.G687* ENST00000281772 NM_152519.2 687 Gga/Tga 0 -C2orf68 UCSF GRCh37 2 85839061 85839061 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 13 23 0 ENST00000306336.5:c.47G>A p.Gly16Glu p.G16E ENST00000306336 NM_001013649.3 16 gGg/gAg 0 -C3orf25 UCSF GRCh37 3 129140431 129140431 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 74 197 0 ENST00000505956.1:c.265G>A p.Val89Ile p.V89I ENST00000505956 NM_207307.1 89 Gtt/Att 0 -C3orf30 UCSF GRCh37 3 118865880 118865880 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 122 85 163 0 ENST00000295622.1:c.844G>A p.Ala282Thr p.A282T ENST00000295622 NM_152539.2 282 Gct/Act 0 -C3orf30 UCSF GRCh37 3 118865621 118865621 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 131 243 0 ENST00000295622.1:c.585C>T p.Asp195= p.D195= ENST00000295622 NM_152539.2 195 gaC/gaT 0 -C4orf41 UCSF GRCh37 4 184628085 184628085 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 55 146 0 ENST00000334690.6:c.3181C>T p.Leu1061Phe p.L1061F ENST00000334690 NM_021942.5 1061 Ctc/Ttc 0 -C4orf46 UCSF GRCh37 4 159590829 159590829 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 75 146 0 ENST00000379205.4:c.278G>A p.Arg93His p.R93H ENST00000379205 NM_001008393.3 93 cGt/cAt 0 -C5 UCSF GRCh37 9 123742447 123742447 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 164 162 0 ENST00000223642.1:c.3572C>T p.Ser1191Phe p.S1191F ENST00000223642 NM_001735.2 1191 tCt/tTt 0 -C5AR1 UCSF GRCh37 19 47823952 47823952 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 66 176 0 ENST00000355085.3:c.918C>T p.Gly306= p.G306= ENST00000355085 NM_001736.3 306 ggC/ggT 0 -C5orf22 UCSF GRCh37 5 31538470 31538470 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 139 59 191 0 ENST00000325366.9:c.481C>T p.Pro161Ser p.P161S ENST00000325366 NM_018356.2 161 Cct/Tct 0 -RIMOC1 UCSF GRCh37 5 41917241 41917241 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 130 67 188 0 ENST00000381647.2:c.725C>T p.Ala242Val p.A242V ENST00000381647 NM_175921.4 242 gCg/gTg 0 -C6orf132 UCSF GRCh37 6 42071557 42071557 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 34 22 55 0 ENST00000341865.4:c.3509G>A p.Gly1170Glu p.G1170E ENST00000341865 NM_001164446.1 1170 gGg/gAg 0 -C6orf165 UCSF GRCh37 6 88126492 88126492 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 51 125 0 ENST00000369562.4:c.578G>A p.Gly193Glu p.G193E ENST00000369562 NM_001031743.2 193 gGa/gAa 0 -C6orf174 UCSF GRCh37 6 127796620 127796620 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 50 154 0 ENST00000481848.2:c.2551G>A p.Asp851Asn p.D851N ENST00000481848 851 Gac/Aac 0 -C6orf211 UCSF GRCh37 6 151785748 151785748 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 27 67 0 ENST00000367294.3:c.553C>T p.Leu185= p.L185= ENST00000367294 NM_024573.1 185 Ctg/Ttg 0 -LINC03040 UCSF GRCh37 6 43970685 43970685 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 29 54 0 ENST00000336600.5:c.551C>T p.Pro184Leu p.P184L ENST00000336600 NM_001171992.1 184 cCc/cTc 0 -C6orf47 UCSF GRCh37 6 31627559 31627559 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 56 108 0 ENST00000375911.1:c.166C>T p.Pro56Ser p.P56S ENST00000375911 NM_021184.3 56 Ccc/Tcc 0 -C6orf70 UCSF GRCh37 6 170168254 170168254 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 47 116 0 ENST00000366773.3:c.1046G>A p.Gly349Glu p.G349E ENST00000366773 NM_018341.2 349 gGa/gAa 0 -C6orf97 UCSF GRCh37 6 151865852 151865852 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 79 205 0 ENST00000239374.7:c.588+1G>A p.X196_splice ENST00000239374 NM_025059.3 0 -C7orf47 UCSF GRCh37 7 100033560 100033560 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 11 7 22 0 ENST00000292330.2:c.362G>A p.Gly121Glu p.G121E ENST00000292330 NM_145030.2 121 gGg/gAg 0 -C7orf65 UCSF GRCh37 7 47698652 47698652 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 60 159 0 ENST00000408988.2:c.282C>T p.Thr94= p.T94= ENST00000408988 NM_001123065.1 94 acC/acT 0 -C8A UCSF GRCh37 1 57351790 57351790 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 85 210 0 ENST00000361249.3:c.1046G>A p.Gly349Asp p.G349D ENST00000361249 NM_000562.2 349 gGc/gAc 0 -CFAP418 UCSF GRCh37 8 96259901 96259901 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 111 61 155 0 ENST00000286688.5:c.568G>A p.Glu190Lys p.E190K ENST00000286688 NM_177965.3 190 Gaa/Aaa 0 -C8orf40 UCSF GRCh37 8 42407718 42407718 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 122 93 224 0 ENST00000438528.3:c.291C>T p.Asn97= p.N97= ENST00000438528 NM_001135676.1 97 aaC/aaT 0 -C9orf172 UCSF GRCh37 9 139739664 139739664 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 12 27 0 ENST00000436881.1:c.798G>A p.Glu266= p.E266= ENST00000436881 NM_001080482.2 266 gaG/gaA 0 -C9orf93 UCSF GRCh37 9 15571644 15571644 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 24 105 215 0 ENST00000380701.3:c.64G>A p.Val22Ile p.V22I ENST00000380701 NM_173550.2 22 Gta/Ata 0 -CA14 UCSF GRCh37 1 150234659 150234659 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 144 102 195 0 ENST00000369111.4:c.359G>A p.Gly120Glu p.G120E ENST00000369111 NM_012113.1 120 gGg/gAg 0 -CA4 UCSF GRCh37 17 58235074 58235074 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 69 179 0 ENST00000300900.4:c.438G>A p.Glu146= p.E146= ENST00000300900 NM_000717.3 146 gaG/gaA 0 -CA5A UCSF GRCh37 16 87925507 87925507 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 19 55 0 ENST00000309893.2:c.672C>T p.Cys224= p.C224= ENST00000309893 NM_001739.1 224 tgC/tgT 0 -CABS1 UCSF GRCh37 4 71201071 71201072 + frameshift_variant Frame_Shift_Del DEL CA CA G NOVEL P18_Rec Untested WXS Illumina HiSeq 46 0 ENST00000273936.5:c.315_316delinsG p.Ile106Ter p.I106* ENST00000273936 NM_033122.3 105 tcCAta/tcGta 0 -CABYR UCSF GRCh37 18 21736260 21736260 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 65 159 0 ENST00000399496.3:c.541+254G>A *181* ENST00000399496 NM_012189.3 0 -CACHD1 UCSF GRCh37 1 65131847 65131847 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 77 93 0 ENST00000290039.5:c.2231C>T p.Ser744Phe p.S744F ENST00000290039 NM_020925.2 744 tCc/tTc 0 -CACNA1A UCSF GRCh37 19 13470554 13470554 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 59 110 0 ENST00000360228.5:c.844C>T p.Pro282Ser p.P282S ENST00000360228 NM_001127222.1 282 Ccc/Tcc 0 -CACNA1D UCSF GRCh37 3 53707796 53707796 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 65 168 0 ENST00000288139.4:c.1173C>T p.Ile391= p.I391= ENST00000288139 NM_000720.3 391 atC/atT 0 -CACNA1E UCSF GRCh37 1 181762842 181762842 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 119 74 168 0 ENST00000367573.2:c.5940C>T p.Asn1980= p.N1980= ENST00000367573 NM_001205293.1 1980 aaC/aaT 0 -CACNA1F UCSF GRCh37 X 49088147 49088147 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 67 75 0 ENST00000376265.2:c.268G>A p.Glu90Lys p.E90K ENST00000376265 NM_005183.2 90 Gag/Aag 0 -CACNA1I UCSF GRCh37 22 40066139 40066139 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 95 221 0 ENST00000402142.3:c.4291G>A p.Val1431Met p.V1431M ENST00000402142 NM_021096.3 1431 Gtg/Atg 0 -CACNA1I UCSF GRCh37 22 40015336 40015336 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 48 121 0 ENST00000402142.3:c.504C>T p.Asp168= p.D168= ENST00000402142 NM_021096.3 168 gaC/gaT 0 -CACNA1S UCSF GRCh37 1 201018178 201018178 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 33 55 0 ENST00000362061.3:c.4291C>T p.Pro1431Ser p.P1431S ENST00000362061 NM_000069.2 1431 Ccc/Tcc 0 -CACNA1S UCSF GRCh37 1 201030429 201030429 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 59 98 0 ENST00000362061.3:c.3221C>T p.Thr1074Ile p.T1074I ENST00000362061 NM_000069.2 1074 aCt/aTt 0 -CACNA2D2 UCSF GRCh37 3 50402395 50402395 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 14 45 0 ENST00000479441.1:c.3236G>A p.Gly1079Asp p.G1079D ENST00000479441 1079 gGc/gAc 0 -CACNA2D2 UCSF GRCh37 3 50404897 50404897 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 29 73 0 ENST00000479441.1:c.2350C>T p.Pro784Ser p.P784S ENST00000479441 784 Ccc/Tcc 0 -CACNB1 UCSF GRCh37 17 37331830 37331830 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 48 121 0 ENST00000394303.3:c.1413G>A p.Glu471= p.E471= ENST00000394303 NM_000723.4 471 gaG/gaA 0 -CACNG1 UCSF GRCh37 17 65040959 65040959 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 30 71 0 ENST00000226021.3:c.183C>T p.Ile61= p.I61= ENST00000226021 NM_000727.3 61 atC/atT 0 -CADPS UCSF GRCh37 3 62478043 62478043 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 209 165 297 0 ENST00000383710.4:c.2806G>A p.Ala936Thr p.A936T ENST00000383710 NM_003716.3 936 Gcc/Acc 0 -CADPS2 UCSF GRCh37 7 121960334 121960334 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 208 173 339 0 ENST00000449022.2:c.3776C>T p.Thr1259Ile p.T1259I ENST00000449022 NM_017954.10 1259 aCt/aTt 0 -CADPS2 UCSF GRCh37 7 122377059 122377059 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 117 86 197 0 ENST00000449022.2:c.403C>T p.Gln135Ter p.Q135* ENST00000449022 NM_017954.10 135 Caa/Taa 0 -CALCOCO1 UCSF GRCh37 12 54107963 54107963 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 6 32 91 1 ENST00000550804.1:c.1545G>A p.Trp515Ter p.W515* ENST00000550804 515 tgG/tgA 0 -CALR3 UCSF GRCh37 19 16593283 16593283 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 54 133 0 ENST00000269881.3:c.896C>T p.Ala299Val p.A299V ENST00000269881 NM_145046.4 299 gCc/gTc 0 -CAMK1G UCSF GRCh37 1 209783195 209783195 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 58 117 0 ENST00000009105.1:c.749-1G>A p.X250_splice ENST00000009105 0 -CAMK2G UCSF GRCh37 10 75612997 75612997 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 41 98 0 ENST00000322680.3:c.228C>T p.Leu76= p.L76= ENST00000322680 NM_172170.4 76 ctC/ctT 0 -CAMTA1 UCSF GRCh37 1 7723491 7723491 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 71 142 0 ENST00000303635.7:c.884G>A p.Gly295Glu p.G295E ENST00000303635 NM_015215.2 295 gGg/gAg 0 -CAPN11 UCSF GRCh37 6 44140111 44140111 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 18 36 0 ENST00000398776.1:c.482G>A p.Arg161Lys p.R161K ENST00000398776 NM_007058.3 161 aGa/aAa 0 -CAPN12 UCSF GRCh37 19 39226149 39226149 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 32 14 47 0 ENST00000328867.4:c.1619C>T p.Ser540Phe p.S540F ENST00000328867 NM_144691.3 540 tCt/tTt 0 -CAPNS1 UCSF GRCh37 19 36633571 36633571 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 100 179 0 ENST00000246533.3:c.261C>T p.Tyr87= p.Y87= ENST00000246533 NM_001749.2 87 taC/taT 0 -CAPZA1 UCSF GRCh37 1 113189886 113189886 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 96 228 0 ENST00000263168.3:c.94G>A p.Val32Ile p.V32I ENST00000263168 NM_006135.2 32 Gta/Ata 0 -CARD11 UCSF GRCh37 7 2977541 2977541 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 39 76 0 ENST00000396946.4:c.1143G>A p.Gln381= p.Q381= ENST00000396946 NM_032415.4 381 caG/caA 0 -CARD16 UCSF GRCh37 11 104912389 104912389 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 96 221 0 ENST00000375706.2:c.332G>A p.Arg111Lys p.R111K ENST00000375706 NM_001017534.1 111 aGa/aAa 0 -CARM1 UCSF GRCh37 19 11024706 11024706 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 15 47 0 ENST00000327064.4:c.823G>A p.Ala275Thr p.A275T ENST00000327064 NM_199141.1 275 Gcc/Acc 0 -CARNS1 UCSF GRCh37 11 67192040 67192040 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 18 10 26 0 ENST00000445895.2:c.2821C>T p.Pro941Ser p.P941S ENST00000445895 941 Cct/Tct 0 -CASP5 UCSF GRCh37 11 104871090 104871090 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 171 102 235 0 ENST00000393141.2:c.889G>A p.Asp297Asn p.D297N ENST00000393141 NM_004347.3 297 Gat/Aat 0 -CASP8AP2 UCSF GRCh37 6 90571890 90571890 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 131 89 223 0 ENST00000551025.1:n.1899G>A *633* ENST00000551025 0 -CASS4 UCSF GRCh37 20 55012249 55012249 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 86 168 0 ENST00000371336.3:c.66C>T p.Asn22= p.N22= ENST00000371336 NM_001164114.1 22 aaC/aaT 0 -CASZ1 UCSF GRCh37 1 10720317 10720317 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 31 71 0 ENST00000377022.3:c.782C>T p.Thr261Ile p.T261I ENST00000377022 NM_001079843.2 261 aCc/aTc 0 -CATSPER2 UCSF GRCh37 15 43924482 43924482 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 72 133 1 ENST00000321596.5:c.1476C>T p.Pro492= p.P492= ENST00000321596 492 ccC/ccT 0 -CCBL2 UCSF GRCh37 1 89414918 89414918 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 68 153 0 ENST00000260508.4:c.997G>A p.Asp333Asn p.D333N ENST00000260508 NM_001008661.2 333 Gat/Aat 0 -CCBP2 UCSF GRCh37 3 42906810 42906810 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 176 98 245 0 ENST00000422265.1:c.816G>A p.Leu272= p.L272= ENST00000422265 NM_001296.4 272 ctG/ctA 0 -CCDC102B UCSF GRCh37 18 66504265 66504265 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 154 127 250 0 ENST00000360242.5:c.265G>A p.Glu89Lys p.E89K ENST00000360242 NM_024781.2 89 Gaa/Aaa 0 -CCDC107 UCSF GRCh37 9 35661073 35661073 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 66 129 0 ENST00000426546.2:c.741G>A p.Arg247= p.R247= ENST00000426546 NM_001195201.1 247 cgG/cgA 0 -CCDC129 UCSF GRCh37 7 31691601 31691601 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 78 164 0 ENST00000451887.2:c.2838G>A p.Gln946= p.Q946= ENST00000451887 NM_001257968.1 946 caG/caA 0 -CCDC132 UCSF GRCh37 7 92963441 92963441 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 159 104 214 0 ENST00000305866.5:c.1990G>A p.Gly664Arg p.G664R ENST00000305866 NM_017667.3 664 Gga/Aga 0 -CCDC134 UCSF GRCh37 22 42209287 42209287 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 62 163 0 ENST00000255784.5:c.330G>A p.Glu110= p.E110= ENST00000255784 NM_024821.2 110 gaG/gaA 0 -CCDC135 UCSF GRCh37 16 57756942 57756942 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 82 156 0 ENST00000360716.3:c.1437G>A p.Trp479Ter p.W479* ENST00000360716 479 tgG/tgA 0 -CCDC149 UCSF GRCh37 4 24810064 24810064 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 47 85 0 ENST00000504487.1:c.1537G>A p.Asp513Asn p.D513N ENST00000504487 NM_001130726.2 513 Gac/Aac 0 -CCDC36 UCSF GRCh37 3 49294536 49294536 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 116 255 0 ENST00000438782.1:c.1606C>T p.Leu536Phe p.L536F ENST00000438782 536 Ctc/Ttc 0 -CCDC57 UCSF GRCh37 17 80141668 80141668 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 87 155 0 ENST00000392343.3:c.1193C>T p.Ser398Phe p.S398F ENST00000392343 398 tCc/tTc 0 -CCDC58 UCSF GRCh37 3 122078754 122078754 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 65 161 0 ENST00000291458.5:c.397C>T p.Arg133Cys p.R133C ENST00000291458 NM_001017928.2 133 Cgc/Tgc 0 -CCDC75 UCSF GRCh37 2 37316927 37316927 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 18 78 185 0 ENST00000608836.1:c.192G>A p.Lys64= p.K64= ENST00000608836 64 aaG/aaA 0 -CCDC77 UCSF GRCh37 12 550148 550148 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 58 161 0 ENST00000239830.4:c.1306C>T p.Gln436Ter p.Q436* ENST00000239830 NM_032358.3 436 Caa/Taa 0 -CCDC83 UCSF GRCh37 11 85630413 85630413 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 87 187 0 ENST00000280245.4:c.1195C>T p.Leu399= p.L399= ENST00000280245 NM_173556.3 399 Ctg/Ttg 0 -CCDC91 UCSF GRCh37 12 28459819 28459819 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 100 79 161 0 ENST00000545336.1:c.412A>G p.Ile138Val p.I138V ENST00000545336 138 Att/Gtt 0 -CCNDBP1 UCSF GRCh37 15 43483770 43483770 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 67 150 0 ENST00000300213.4:c.757G>A p.Ala253Thr p.A253T ENST00000300213 NM_012142.4 253 Gcc/Acc 0 -CCNE1 UCSF GRCh37 19 30303917 30303917 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 32 76 0 ENST00000262643.3:c.153G>A p.Arg51= p.R51= ENST00000262643 NM_001238.2 51 agG/agA 0 -CCNH UCSF GRCh37 5 86700661 86700661 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 33 74 0 ENST00000256897.4:c.689G>A p.Ser230Asn p.S230N ENST00000256897 NM_001239.3 230 aGt/aAt 0 -CCNK UCSF GRCh37 14 99977096 99977096 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 8 21 0 ENST00000389879.5:c.1720G>A p.Gly574Arg p.G574R ENST00000389879 NM_001099402.1 574 Ggg/Agg 0 -CCNT1 UCSF GRCh37 12 49089613 49089613 + splice_acceptor_variant Splice_Site SNP C C T snp132_rs11833923 P18_Rec Untested WXS Illumina HiSeq 19 47 133 0 ENST00000261900.3:c.707-1G>A p.X236_splice ENST00000261900 NM_001240.3 0 -CCNT2 UCSF GRCh37 2 135696633 135696633 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 128 76 190 0 ENST00000264157.5:c.430+1G>A p.X144_splice ENST00000264157 NM_058241.2 0 -CCR8 UCSF GRCh37 3 39374006 39374006 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 169 117 271 0 ENST00000326306.4:c.184G>A p.Val62Ile p.V62I ENST00000326306 NM_005201.3 62 Gtc/Atc 0 -CCRL1 UCSF GRCh37 3 132320132 132320132 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 477 84 638 0 ENST00000249887.2:c.891C>T p.Cys297= p.C297= ENST00000249887 NM_016557.3 297 tgC/tgT 0 -CCT7 UCSF GRCh37 2 73466919 73466919 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 102 216 0 ENST00000258091.5:c.155G>A p.Gly52Asp p.G52D ENST00000258091 NM_006429.3 52 gGc/gAc 0 -CCT7 UCSF GRCh37 2 73471675 73471675 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 77 173 0 ENST00000258091.5:c.450G>A p.Glu150= p.E150= ENST00000258091 NM_006429.3 150 gaG/gaA 0 -CCT8L2 UCSF GRCh37 22 17073014 17073014 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 14 62 149 0 ENST00000359963.3:c.427G>A p.Val143Ile p.V143I ENST00000359963 NM_014406.4 143 Gtc/Atc 0 -CD101 UCSF GRCh37 1 117559965 117559965 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 123 76 173 0 ENST00000256652.4:c.1482C>T p.Phe494= p.F494= ENST00000256652 NM_004258.5 494 ttC/ttT 0 -CD207 UCSF GRCh37 2 71062662 71062662 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 52 110 0 ENST00000410009.3:c.150G>A p.Thr50= p.T50= ENST00000410009 NM_015717.3 50 acG/acA 0 -CD2BP2 UCSF GRCh37 16 30365523 30365523 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 95 220 0 ENST00000305596.3:c.199G>A p.Ala67Thr p.A67T ENST00000305596 NM_006110.2 67 Gcc/Acc 0 -CD300E UCSF GRCh37 17 72608796 72608796 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 43 96 0 ENST00000328630.3:c.614G>A p.Arg205Lys p.R205K ENST00000328630 205 aGa/aAa 0 -CD300LD UCSF GRCh37 17 72584665 72584665 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 112 75 166 0 ENST00000375352.1:c.364G>A p.Val122Met p.V122M ENST00000375352 NM_001115152.1 122 Gtg/Atg 0 -CD40 UCSF GRCh37 20 44750474 44750474 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 74 247 0 ENST00000372285.3:c.67C>T p.Pro23Ser p.P23S ENST00000372285 NM_001250.4 23 Ccc/Tcc 0 -CD5 UCSF GRCh37 11 60889194 60889194 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 38 86 0 ENST00000347785.3:c.917C>T p.Ala306Val p.A306V ENST00000347785 NM_014207.3 306 gCc/gTc 0 -CD6 UCSF GRCh37 11 60786787 60786787 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 11 56 0 ENST00000313421.7:c.2004C>T p.Ala668= p.A668= ENST00000313421 NM_006725.4 668 gcC/gcT 0 -CD79B UCSF GRCh37 17 62007564 62007564 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 51 107 0 ENST00000392795.3:c.303G>A p.Gln101= p.Q101= ENST00000392795 NM_001039933.1 101 caG/caA 0 -CD83 UCSF GRCh37 6 14118245 14118245 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 36 13 56 0 ENST00000379153.3:c.102C>T p.Pro34= p.P34= ENST00000379153 NM_001040280.1 34 ccC/ccT 0 -CD86 UCSF GRCh37 3 121836932 121836932 + synonymous_variant Silent SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 52 128 0 ENST00000330540.2:c.885C>A p.Thr295= p.T295= ENST00000330540 NM_175862.4 295 acC/acA 0 -CD8A UCSF GRCh37 2 87013087 87013087 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 78 196 0 ENST00000409511.2:c.664G>A p.Val222Ile p.V222I ENST00000409511 NM_001145873.1 222 Gtc/Atc 0 -CDADC1 UCSF GRCh37 13 49833592 49833592 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 161 77 231 0 ENST00000251108.6:c.363G>A p.Arg121= p.R121= ENST00000251108 NM_001193478.1 121 agG/agA 0 -CDADC1 UCSF GRCh37 13 49841626 49841626 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 49 125 0 ENST00000251108.6:c.431C>T p.Ala144Val p.A144V ENST00000251108 NM_001193478.1 144 gCt/gTt 0 -CDC16 UCSF GRCh37 13 115024859 115024859 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 43 141 0 ENST00000360383.3:c.1300G>A p.Ala434Thr p.A434T ENST00000360383 NM_001078645.1 434 Gca/Aca 0 -CDC23 UCSF GRCh37 5 137534175 137534175 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 49 147 0 ENST00000394886.2:c.870G>A p.Arg290= p.R290= ENST00000394886 NM_004661.3 290 agG/agA 0 -CDC34 UCSF GRCh37 19 537137 537137 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 27 69 0 ENST00000215574.4:c.487G>A p.Asp163Asn p.D163N ENST00000215574 NM_004359.1 163 Gac/Aac 0 -CDC7 UCSF GRCh37 1 91973874 91973874 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 38 66 0 ENST00000428239.1:c.255G>A p.Glu85= p.E85= ENST00000428239 NM_001134420.1 85 gaG/gaA 0 -CDC7 UCSF GRCh37 1 91977338 91977338 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 68 139 0 ENST00000428239.1:c.430G>A p.Asp144Asn p.D144N ENST00000428239 NM_001134420.1 144 Gac/Aac 0 -CDCA4 UCSF GRCh37 14 105478160 105478160 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 65 170 0 ENST00000336219.3:c.107C>T p.Ser36Leu p.S36L ENST00000336219 NM_017955.3 36 tCg/tTg 0 -CDH2 UCSF GRCh37 18 25583066 25583066 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 73 183 0 ENST00000269141.3:c.915G>A p.Arg305= p.R305= ENST00000269141 NM_001792.3 305 agG/agA 0 -CDH2 UCSF GRCh37 18 25570165 25570165 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 69 203 0 ENST00000269141.3:c.1494C>T p.Ala498= p.A498= ENST00000269141 NM_001792.3 498 gcC/gcT 0 -CDH23 UCSF GRCh37 10 73556947 73556947 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 46 113 0 ENST00000398788.3:c.79C>T p.Leu27= p.L27= ENST00000398788 NM_001171933.1 27 Cta/Tta 0 -CDH23 UCSF GRCh37 10 73437387 73437387 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 39 92 0 ENST00000224721.6:c.1704G>A p.Lys568= p.K568= ENST00000224721 NM_022124.5 568 aaG/aaA 0 -CDH23 UCSF GRCh37 10 73498296 73498296 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 128 106 178 0 ENST00000224721.6:c.4266G>A p.Arg1422= p.R1422= ENST00000224721 NM_022124.5 1422 cgG/cgA 0 -CDIPT UCSF GRCh37 16 29872497 29872497 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 49 136 0 ENST00000219789.6:c.262C>T p.Pro88Ser p.P88S ENST00000219789 NM_006319.3 88 Cct/Tct 0 -CDK12 UCSF GRCh37 17 37676277 37676277 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 140 89 203 0 ENST00000447079.4:c.3032C>T p.Ala1011Val p.A1011V ENST00000447079 NM_015083.1 1011 gCt/gTt 0 -CDK5 UCSF GRCh37 7 150754902 150754902 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 29 96 0 ENST00000485972.1:c.34G>A p.Glu12Lys p.E12K ENST00000485972 NM_004935.3 12 Gaa/Aaa 0 -FBXW10B UCSF GRCh37 17 15522780 15522780 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 235 133 468 0 ENST00000395906.3:c.47G>A p.Cys16Tyr p.C16Y ENST00000395906 NM_006382.3 16 tGt/tAt 0 -FBXW10B UCSF GRCh37 17 15496780 15496780 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Rec Untested WXS Illumina HiSeq 228 170 349 0 ENST00000395906.3:c.1877T>A p.Leu626His p.L626H ENST00000395906 NM_006382.3 626 cTc/cAc 0 -CEACAM20 UCSF GRCh37 19 45021256 45021256 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 53 146 0 ENST00000454753.1:n.1339G>A *447* ENST00000454753 0 -CEACAM21 UCSF GRCh37 19 42092212 42092212 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 44 113 0 ENST00000401445.2:c.870C>T p.Ser290= p.S290= ENST00000401445 290 agC/agT 0 -CELSR3 UCSF GRCh37 3 48684203 48684203 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 27 59 0 ENST00000164024.4:c.7288G>A p.Gly2430Ser p.G2430S ENST00000164024 NM_001407.2 2430 Ggt/Agt 0 -CELSR3 UCSF GRCh37 3 48697265 48697265 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 63 142 0 ENST00000164024.4:c.2803G>A p.Asp935Asn p.D935N ENST00000164024 NM_001407.2 935 Gac/Aac 0 -CELSR3 UCSF GRCh37 3 48698563 48698563 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 16 18 37 0 ENST00000164024.4:c.1505A>G p.Asp502Gly p.D502G ENST00000164024 NM_001407.2 502 gAc/gGc 0 -CEMP1 UCSF GRCh37 16 2580808 2580808 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 19 45 0 ENST00000382350.1:c.267G>A p.Gly89= p.G89= ENST00000382350 89 ggG/ggA 0 -CENPB UCSF GRCh37 20 3766747 3766747 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 26 37 0 ENST00000379751.4:c.384G>A p.Arg128= p.R128= ENST00000379751 NM_001810.5 128 cgG/cgA 0 -CENPE UCSF GRCh37 4 104066777 104066777 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 115 72 172 0 ENST00000265148.3:c.4475C>T p.Thr1492Ile p.T1492I ENST00000265148 NM_001813.2 1492 aCt/aTt 0 -CENPF UCSF GRCh37 1 214814907 214814907 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 127 81 199 0 ENST00000366955.3:c.3226G>A p.Glu1076Lys p.E1076K ENST00000366955 NM_016343.3 1076 Gaa/Aaa 0 -CENPT UCSF GRCh37 16 67862212 67862212 + synonymous_variant Silent SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 34 38 90 0 ENST00000562787.1:c.1644C>T p.Ile548= p.I548= ENST00000562787 NM_025082.3 548 atC/atT 0 -CEP112 UCSF GRCh37 17 64092721 64092721 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 41 97 0 ENST00000392769.2:c.672G>A p.Lys224= p.K224= ENST00000392769 NM_145036.3 224 aaG/aaA 0 -CEP135 UCSF GRCh37 4 56876058 56876058 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 115 104 176 0 ENST00000257287.4:c.2494A>G p.Arg832Gly p.R832G ENST00000257287 NM_025009.4 832 Aga/Gga 0 -CEP170 UCSF GRCh37 1 243327806 243327806 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 77 316 0 ENST00000366542.1:c.3456G>A p.Gln1152= p.Q1152= ENST00000366542 NM_014812.2 1152 caG/caA 0 -CEP192 UCSF GRCh37 18 13096183 13096183 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 65 145 0 ENST00000506447.1:c.6434G>A p.Cys2145Tyr p.C2145Y ENST00000506447 NM_032142.3 2145 tGt/tAt 0 -CEP290 UCSF GRCh37 12 88500814 88500814 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 64 155 0 ENST00000552810.1:c.2545G>A p.Asp849Asn p.D849N ENST00000552810 NM_025114.3 849 Gat/Aat 0 -CEP78 UCSF GRCh37 9 80881440 80881440 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 59 144 0 ENST00000376597.4:c.1931G>A p.Gly644Glu p.G644E ENST00000376597 NM_001098802.1 644 gGa/gAa 0 -CES3 UCSF GRCh37 16 67006937 67006937 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 52 106 0 ENST00000303334.4:c.1701C>T p.Ala567= p.A567= ENST00000303334 NM_024922.5 567 gcC/gcT 0 -CFHR3 UCSF GRCh37 1 196749019 196749019 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 68 137 0 ENST00000367425.4:c.346C>T p.Pro116Ser p.P116S ENST00000367425 NM_021023.5 116 Cct/Tct 0 -CHAF1A UCSF GRCh37 19 4423333 4423333 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 102 193 0 ENST00000301280.5:c.1249G>A p.Ala417Thr p.A417T ENST00000301280 NM_005483.2 417 Gct/Act 0 -CHAT UCSF GRCh37 10 50873074 50873074 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 69 156 0 ENST00000337653.2:c.2229C>T p.Ser743= p.S743= ENST00000337653 NM_020549.4 743 agC/agT 0 -CHD1L UCSF GRCh37 1 146765378 146765378 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 147 359 0 ENST00000369258.4:c.2478G>A p.Lys826= p.K826= ENST00000369258 NM_001256336.1 826 aaG/aaA 0 -CHD6 UCSF GRCh37 20 40065937 40065937 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 65 138 0 ENST00000373233.3:c.4045G>A p.Val1349Ile p.V1349I ENST00000373233 NM_032221.4 1349 Gta/Ata 0 -CHD6 UCSF GRCh37 20 40127937 40127937 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 22 55 0 ENST00000373233.3:c.913G>A p.Glu305Lys p.E305K ENST00000373233 NM_032221.4 305 Gag/Aag 0 -CHD9 UCSF GRCh37 16 53308204 53308204 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 169 128 237 0 ENST00000566029.1:c.4957G>A p.Val1653Ile p.V1653I ENST00000566029 1653 Gtt/Att 0 -CHI3L2 UCSF GRCh37 1 111781529 111781529 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 81 185 0 ENST00000445067.2:c.893C>T p.Ser298Phe p.S298F ENST00000445067 298 tCt/tTt 0 -CHIT1 UCSF GRCh37 1 203192374 203192374 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 79 175 0 ENST00000367229.1:c.494C>T p.Ala165Val p.A165V ENST00000367229 NM_003465.2 165 gCc/gTc 0 -CHPF2 UCSF GRCh37 7 150934555 150934555 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 49 111 0 ENST00000035307.2:c.1107C>T p.Arg369= p.R369= ENST00000035307 NM_019015.1 369 cgC/cgT 0 -CHRM1 UCSF GRCh37 11 62677564 62677564 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 59 143 0 ENST00000306960.3:c.1009G>A p.Ala337Thr p.A337T ENST00000306960 NM_000738.2 337 Gct/Act 0 -CHRM2 UCSF GRCh37 7 136700241 136700241 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 65 113 0 ENST00000445907.2:c.629C>T p.Ser210Phe p.S210F ENST00000445907 NM_001006627.1 210 tCc/tTc 0 -CHST11 UCSF GRCh37 12 105150931 105150931 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 45 114 0 ENST00000303694.5:c.409G>A p.Val137Ile p.V137I ENST00000303694 NM_018413.5 137 Gtc/Atc 0 -CHST12 UCSF GRCh37 7 2472470 2472470 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 55 95 0 ENST00000258711.6:c.196G>A p.Val66Ile p.V66I ENST00000258711 NM_001243794.1 66 Gtc/Atc 0 -CHST13 UCSF GRCh37 3 126260857 126260857 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.014,1000g2011may_all_0.0310,snp132_rs58576050 P18_Rec Untested WXS Illumina HiSeq 13 15 25 0 ENST00000319340.2:c.462C>T p.Asp154= p.D154= ENST00000319340 NM_152889.2 154 gaC/gaT 0 -CHST4 UCSF GRCh37 16 71570604 71570604 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 93 171 0 ENST00000338482.5:c.24G>A p.Lys8= p.K8= ENST00000338482 8 aaG/aaA 0 -CHST5 UCSF GRCh37 16 75564161 75564161 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 17 28 0 ENST00000336257.3:c.122C>T p.Thr41Ile p.T41I ENST00000336257 NM_024533.4 41 aCc/aTc 0 -CIT UCSF GRCh37 12 120295477 120295477 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 156 103 248 0 ENST00000392521.2:c.264G>A p.Gln88= p.Q88= ENST00000392521 NM_001206999.1 88 caG/caA 0 -CITED2 UCSF GRCh37 6 139695002 139695002 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 15 12 34 0 ENST00000367651.2:c.80G>A p.Arg27His p.R27H ENST00000367651 NM_006079.4 27 cGc/cAc 0 -CKAP2 UCSF GRCh37 13 53039430 53039430 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 76 197 0 ENST00000378037.5:c.1309G>A p.Gly437Arg p.G437R ENST00000378037 NM_018204.3 437 Gga/Aga 0 -CKAP5 UCSF GRCh37 11 46819722 46819722 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 144 109 202 0 ENST00000529230.1:c.1084G>A p.Val362Ile p.V362I ENST00000529230 362 Gtt/Att 0 -CKMT2 UCSF GRCh37 5 80555039 80555039 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 45 110 0 ENST00000424301.2:c.980C>T p.Ala327Val p.A327V ENST00000424301 NM_001825.2 327 gCt/gTt 0 -CLCN1 UCSF GRCh37 7 143043243 143043243 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 41 85 0 ENST00000343257.2:c.2183C>T p.Ser728Phe p.S728F ENST00000343257 NM_000083.2 728 tCc/tTc 0 -CLCN2 UCSF GRCh37 3 184076576 184076576 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 22 39 0 ENST00000265593.4:c.246C>T p.Phe82= p.F82= ENST00000265593 NM_004366.5 82 ttC/ttT 0 -CLCN3 UCSF GRCh37 4 170613362 170613362 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 159 136 274 0 ENST00000347613.4:c.827G>A p.Gly276Asp p.G276D ENST00000347613 NM_173872.3 276 gGt/gAt 0 -CLCN7 UCSF GRCh37 16 1500513 1500513 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 5 20 0 ENST00000382745.4:c.1602C>T p.Tyr534= p.Y534= ENST00000382745 NM_001287.5 534 taC/taT 0 -CLDN1 UCSF GRCh37 3 190030796 190030796 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 188 132 269 0 ENST00000295522.3:c.253G>A p.Val85Met p.V85M ENST00000295522 NM_021101.4 85 Gtg/Atg 0 -CLEC9A UCSF GRCh37 12 10217414 10217414 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 76 165 0 ENST00000355819.1:c.555C>T p.Arg185= p.R185= ENST00000355819 NM_207345.2 185 cgC/cgT 0 -CLINT1 UCSF GRCh37 5 157221923 157221923 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 31 91 0 ENST00000523908.1:c.1070G>A p.Gly357Asp p.G357D ENST00000523908 357 gGc/gAc 0 -CLIP1 UCSF GRCh37 12 122862435 122862435 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 200 147 277 0 ENST00000540338.1:c.158A>G p.Glu53Gly p.E53G ENST00000540338 53 gAa/gGa 0 -CLMP UCSF GRCh37 11 122968596 122968596 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 86 167 0 ENST00000448775.2:c.93C>T p.Val31= p.V31= ENST00000448775 NM_024769.2 31 gtC/gtT 0 -CLSTN2 UCSF GRCh37 3 140280982 140280982 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 52 136 0 ENST00000458420.3:c.2044C>T p.Pro682Ser p.P682S ENST00000458420 NM_022131.2 682 Ccc/Tcc 0 -CLVS2 UCSF GRCh37 6 123318973 123318973 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 52 162 0 ENST00000275162.5:c.51C>T p.Arg17= p.R17= ENST00000275162 NM_001010852.3 17 cgC/cgT 0 -CMTM4 UCSF GRCh37 16 66651192 66651192 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 48 68 0 ENST00000330687.4:c.693G>A p.Trp231Ter p.W231* ENST00000330687 NM_181521.2 231 tgG/tgA 0 -CMYA5 UCSF GRCh37 5 79035216 79035216 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 62 141 0 ENST00000446378.2:c.10628G>A p.Ser3543Asn p.S3543N ENST00000446378 NM_153610.3 3543 aGt/aAt 0 -CMYA5 UCSF GRCh37 5 79041083 79041083 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 129 104 216 0 ENST00000446378.2:c.10773G>A p.Gln3591= p.Q3591= ENST00000446378 NM_153610.3 3591 caG/caA 0 -CNGB1 UCSF GRCh37 16 57954336 57954336 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 52 129 0 ENST00000251102.8:c.1756C>T p.Leu586Phe p.L586F ENST00000251102 NM_001297.4 586 Ctc/Ttc 0 -CNKSR1 UCSF GRCh37 1 26510770 26510770 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 92 155 0 ENST00000361530.6:c.992C>T p.Ala331Val p.A331V ENST00000361530 331 gCc/gTc 0 -CNNM4 UCSF GRCh37 2 97475190 97475190 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 57 49 102 0 ENST00000377075.2:c.2264C>T p.Thr755Ile p.T755I ENST00000377075 NM_020184.3 755 aCc/aTc 0 -CNNM4 UCSF GRCh37 2 97427097 97427097 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 70 164 0 ENST00000377075.2:c.361G>A p.Val121Ile p.V121I ENST00000377075 NM_020184.3 121 Gtc/Atc 0 -CNTN3 UCSF GRCh37 3 74349022 74349022 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 42 133 0 ENST00000263665.6:c.2163G>A p.Trp721Ter p.W721* ENST00000263665 NM_020872.1 721 tgG/tgA 0 -CNTNAP4 UCSF GRCh37 16 76389299 76389299 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 92 75 159 0 ENST00000478060.1:c.206T>C p.Val69Ala p.V69A ENST00000478060 NM_138994.3 69 gTg/gCg 0 -CNTRL UCSF GRCh37 9 123886221 123886221 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 119 143 0 ENST00000373855.1:c.1663G>A p.Ala555Thr p.A555T ENST00000373855 555 Gct/Act 0 -CNTROB UCSF GRCh37 17 7837463 7837463 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 73 175 0 ENST00000380262.3:c.278C>T p.Ser93Phe p.S93F ENST00000380262 NM_001037144.5 93 tCt/tTt 0 -CNTROB UCSF GRCh37 17 7847867 7847867 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 56 89 0 ENST00000380262.3:c.1645C>T p.Leu549= p.L549= ENST00000380262 NM_001037144.5 549 Ctg/Ttg 0 -COIL UCSF GRCh37 17 55027908 55027908 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 109 212 0 ENST00000240316.4:c.695G>A p.Arg232Lys p.R232K ENST00000240316 NM_004645.2 232 aGg/aAg 0 -COL16A1 UCSF GRCh37 1 32122668 32122668 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 69 126 0 ENST00000373672.3:c.4022G>A p.Gly1341Asp p.G1341D ENST00000373672 NM_001856.3 1341 gGc/gAc 0 -COL17A1 UCSF GRCh37 10 105824195 105824195 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 29 49 0 ENST00000353479.5:c.766+1G>A p.X256_splice ENST00000353479 NM_000494.3 0 -COL20A1 UCSF GRCh37 20 61951530 61951530 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 29 19 46 0 ENST00000358894.6:c.3056C>T p.Pro1019Leu p.P1019L ENST00000358894 NM_020882.2 1019 cCc/cTc 0 -COL20A1 UCSF GRCh37 20 61959774 61959774 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 40 71 0 ENST00000358894.6:c.3705G>A p.Leu1235= p.L1235= ENST00000358894 NM_020882.2 1235 ctG/ctA 0 -COL21A1 UCSF GRCh37 6 55989066 55989066 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 86 92 139 0 ENST00000244728.5:c.1675G>A p.Ala559Thr p.A559T ENST00000244728 NM_030820.3 559 Gct/Act 0 -COL21A1 UCSF GRCh37 6 56031718 56031718 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 121 67 154 0 ENST00000244728.5:c.1264G>A p.Glu422Lys p.E422K ENST00000244728 NM_030820.3 422 Gag/Aag 0 -COL22A1 UCSF GRCh37 8 139606353 139606353 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 57 30 95 0 ENST00000303045.6:c.4522G>A p.Asp1508Asn p.D1508N ENST00000303045 NM_152888.1 1508 Gat/Aat 0 -COL22A1 UCSF GRCh37 8 139661982 139661982 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 36 34 65 0 ENST00000303045.6:c.3373C>T p.Pro1125Ser p.P1125S ENST00000303045 NM_152888.1 1125 Cct/Tct 0 -COL28A1 UCSF GRCh37 7 7410432 7410432 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 70 159 0 ENST00000399429.3:c.2990C>T p.Pro997Leu p.P997L ENST00000399429 NM_001037763.2 997 cCt/cTt 0 -COL28A1 UCSF GRCh37 7 7477036 7477036 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 29 60 0 ENST00000399429.3:c.1780C>T p.Pro594Ser p.P594S ENST00000399429 NM_001037763.2 594 Cct/Tct 0 -COL3A1 UCSF GRCh37 2 189864614 189864614 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 3 11 0 ENST00000304636.3:c.2276G>A p.Gly759Asp p.G759D ENST00000304636 NM_000090.3 759 gGc/gAc 0 -COL4A1 UCSF GRCh37 13 110815821 110815821 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 15 69 0 ENST00000375820.4:c.4238C>T p.Ala1413Val p.A1413V ENST00000375820 NM_001845.4 1413 gCc/gTc 0 -COL4A2 UCSF GRCh37 13 111102651 111102651 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 42 95 0 ENST00000360467.5:c.1190-1G>A p.X397_splice ENST00000360467 NM_001846.2 0 -COL5A2 UCSF GRCh37 2 189927939 189927939 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 72 145 0 ENST00000374866.3:c.1828C>T p.Gln610Ter p.Q610* ENST00000374866 NM_000393.3 610 Cag/Tag 0 -COL6A3 UCSF GRCh37 2 238290014 238290014 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 75 192 1 ENST00000295550.4:c.1441C>T p.Leu481Phe p.L481F ENST00000295550 NM_004369.3 481 Ctt/Ttt 0 -COL7A1 UCSF GRCh37 3 48619761 48619761 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 60 148 0 ENST00000328333.8:c.4630G>A p.Val1544Met p.V1544M ENST00000328333 NM_000094.3 1544 Gtg/Atg 0 -COL8A1 UCSF GRCh37 3 99514361 99514361 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 6 24 0 ENST00000261037.3:c.1616G>A p.Gly539Glu p.G539E ENST00000261037 NM_001850.4 539 gGa/gAa 0 -COL8A2 UCSF GRCh37 1 36564612 36564612 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 28 60 0 ENST00000397799.1:c.670G>A p.Ala224Thr p.A224T ENST00000397799 224 Gcc/Acc 0 -COMP UCSF GRCh37 19 18896951 18896951 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 60 68 115 0 ENST00000222271.2:c.1313G>A p.Gly438Glu p.G438E ENST00000222271 NM_000095.2 438 gGa/gAa 0 -COPS3 UCSF GRCh37 17 17171289 17171289 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 75 116 0 ENST00000268717.5:c.351C>T p.Pro117= p.P117= ENST00000268717 NM_003653.3 117 ccC/ccT 0 -COPS4 UCSF GRCh37 4 83971051 83971051 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 122 91 247 0 ENST00000264389.2:c.324G>A p.Gln108= p.Q108= ENST00000264389 NM_016129.2 108 caG/caA 0 -CORO7 UCSF GRCh37 16 4414887 4414887 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 10 28 0 ENST00000251166.4:c.933G>A p.Gly311= p.G311= ENST00000251166 NM_024535.4 311 ggG/ggA 0 -CPA2 UCSF GRCh37 7 129909590 129909590 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 139 147 0 ENST00000222481.4:c.235G>A p.Val79Met p.V79M ENST00000222481 NM_001869.2 79 Gtg/Atg 0 -CPA4 UCSF GRCh37 7 129939224 129939224 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 132 130 0 ENST00000222482.4:c.265G>A p.Val89Met p.V89M ENST00000222482 NM_016352.3 89 Gtg/Atg 0 -CPEB4 UCSF GRCh37 5 173372078 173372078 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 162 126 227 0 ENST00000265085.5:c.1391G>A p.Gly464Glu p.G464E ENST00000265085 NM_030627.2 464 gGg/gAg 0 -CPLX3 UCSF GRCh37 15 75120402 75120402 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 11 40 0 ENST00000395018.4:c.192G>A p.Gln64= p.Q64= ENST00000395018 NM_001030005.2 64 caG/caA 0 -CPNE8 UCSF GRCh37 12 39087557 39087557 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 126 85 202 0 ENST00000331366.5:c.1045G>A p.Glu349Lys p.E349K ENST00000331366 NM_153634.2 349 Gaa/Aaa 0 -CPNE8 UCSF GRCh37 12 39069519 39069519 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 49 101 0 ENST00000331366.5:c.1432G>A p.Ala478Thr p.A478T ENST00000331366 NM_153634.2 478 Gca/Aca 0 -CRAT UCSF GRCh37 9 131864202 131864202 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 48 107 0 ENST00000318080.2:c.765C>T p.His255= p.H255= ENST00000318080 NM_001257363.1 255 caC/caT 0 -CREB1 UCSF GRCh37 2 208420369 208420369 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 43 80 0 ENST00000432329.2:c.10G>A p.Glu4Lys p.E4K ENST00000432329 NM_134442.3 4 Gaa/Aaa 0 -CREB3L2 UCSF GRCh37 7 137569861 137569861 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 77 53 103 0 ENST00000330387.6:c.1150G>A p.Val384Met p.V384M ENST00000330387 NM_194071.3 384 Gtg/Atg 0 -CREBBP UCSF GRCh37 16 3778942 3778942 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 17 15 0 ENST00000262367.5:c.6106C>T p.Pro2036Ser p.P2036S ENST00000262367 NM_004380.2 2036 Ccc/Tcc 0 -CRELD1 UCSF GRCh37 3 9976276 9976276 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 45 25 95 0 ENST00000326434.5:c.154C>T p.Leu52= p.L52= ENST00000326434 NM_001031717.3 52 Ctg/Ttg 0 -CRHBP UCSF GRCh37 5 76264612 76264612 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 84 171 0 ENST00000274368.4:c.871G>A p.Val291Ile p.V291I ENST00000274368 NM_001882.3 291 Gta/Ata 0 -CRLF1 UCSF GRCh37 19 18709378 18709378 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 38 132 0 ENST00000392386.3:c.561C>T p.Tyr187= p.Y187= ENST00000392386 NM_004750.4 187 taC/taT 0 -CROCC UCSF GRCh37 1 17292500 17292500 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 35 79 0 ENST00000375541.5:c.4582C>T p.Leu1528Phe p.L1528F ENST00000375541 NM_014675.3 1528 Ctt/Ttt 0 -CSE1L UCSF GRCh37 20 47688968 47688968 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 117 79 196 0 ENST00000262982.2:c.914G>A p.Gly305Asp p.G305D ENST00000262982 NM_001316.3 305 gGt/gAt 0 -CSF1R UCSF GRCh37 5 149434822 149434822 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 59 46 89 0 ENST00000286301.3:c.2632C>T p.Pro878Ser p.P878S ENST00000286301 NM_005211.3 878 Cct/Tct 0 -CSF3R UCSF GRCh37 1 36932337 36932337 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 60 130 0 ENST00000361632.4:c.2132C>T p.Ser711Phe p.S711F ENST00000361632 711 tCc/tTc 0 -CSF3R UCSF GRCh37 1 36934774 36934774 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 45 74 0 ENST00000361632.4:c.1559C>T p.Ala520Val p.A520V ENST00000361632 520 gCc/gTc 0 -CSF3R UCSF GRCh37 1 36933197 36933197 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 28 48 0 ENST00000361632.4:c.1920C>T p.Thr640= p.T640= ENST00000361632 640 acC/acT 0 -CSNK1A1 UCSF GRCh37 5 148897381 148897381 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 116 236 0 ENST00000515768.1:c.516C>T p.Asp172= p.D172= ENST00000515768 172 gaC/gaT 0 -CSPG4 UCSF GRCh37 15 75977233 75977233 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 71 181 0 ENST00000308508.5:c.4293C>T p.Arg1431= p.R1431= ENST00000308508 NM_001897.4 1431 cgC/cgT 0 -CST7 UCSF GRCh37 20 24937999 24937999 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 164 110 267 0 ENST00000480798.1:c.147C>T p.Val49= p.V49= ENST00000480798 NM_003650.3 49 gtC/gtT 0 -CSTF2 UCSF GRCh37 X 100079185 100079185 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 7 68 85 0 ENST00000372972.2:c.641G>A p.Gly214Asp p.G214D ENST00000372972 NM_001325.2 214 gGc/gAc 0 -CTIF UCSF GRCh37 18 46284610 46284610 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 93 160 1 ENST00000382998.4:c.905C>T p.Thr302Ile p.T302I ENST00000382998 NM_001142397.1 302 aCc/aTc 0 -CTNNAL1 UCSF GRCh37 9 111705072 111705072 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 80 173 0 ENST00000325551.4:c.2182G>A p.Asp728Asn p.D728N ENST00000325551 NM_003798.2 728 Gac/Aac 0 -CTSA UCSF GRCh37 20 44520380 44520380 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 87 147 0 ENST00000372484.3:c.227G>A p.Gly76Asp p.G76D ENST00000372484 NM_000308.2 76 gGc/gAc 0 -CTSC UCSF GRCh37 11 88068104 88068104 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 56 130 0 ENST00000227266.5:c.318+1G>A p.X106_splice ENST00000227266 NM_001814.4 0 -CTSL2 UCSF GRCh37 9 99795242 99795242 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 46 96 0 ENST00000259470.5:c.994C>T p.Pro332Ser p.P332S ENST00000259470 NM_001333.3 332 Ccc/Tcc 0 -CUBN UCSF GRCh37 10 16870808 16870808 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 87 133 0 ENST00000377833.4:c.10760G>A p.Gly3587Glu p.G3587E ENST00000377833 NM_001081.3 3587 gGa/gAa 0 -CUBN UCSF GRCh37 10 16962047 16962047 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 136 38 116 0 ENST00000377833.4:c.6736G>A p.Asp2246Asn p.D2246N ENST00000377833 NM_001081.3 2246 Gat/Aat 0 -CUBN UCSF GRCh37 10 17145230 17145230 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 159 54 101 0 ENST00000377833.4:c.1424G>A p.Gly475Glu p.G475E ENST00000377833 NM_001081.3 475 gGa/gAa 0 -CUL1 UCSF GRCh37 7 148480875 148480875 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 86 80 154 0 ENST00000325222.4:c.1084G>A p.Asp362Asn p.D362N ENST00000325222 NM_003592.2 362 Gac/Aac 0 -CUL3 UCSF GRCh37 2 225339030 225339030 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 64 164 0 ENST00000264414.4:c.2239G>A p.Gly747Arg p.G747R ENST00000264414 NM_003590.4 747 Gga/Aga 0 -CUL3 UCSF GRCh37 2 225342968 225342968 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 83 135 0 ENST00000264414.4:c.2124G>A p.Val708= p.V708= ENST00000264414 NM_003590.4 708 gtG/gtA 0 -CXCL1 UCSF GRCh37 4 74735207 74735207 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 8 18 0 ENST00000395761.3:c.20C>T p.Ser7Phe p.S7F ENST00000395761 NM_001511.3 7 tCc/tTc 0 -CXCL11 UCSF GRCh37 4 76957089 76957089 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 97 185 0 ENST00000306621.3:c.52G>A p.Val18Ile p.V18I ENST00000306621 NM_005409.4 18 Gtt/Att 0 -CYB561D2 UCSF GRCh37 3 50390813 50390813 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 42 127 0 ENST00000418577.1:c.307C>T p.Leu103Phe p.L103F ENST00000418577 103 Ctt/Ttt 0 -CYB5R1 UCSF GRCh37 1 202931800 202931800 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 52 105 0 ENST00000367249.4:c.773C>T p.Thr258Ile p.T258I ENST00000367249 NM_016243.2 258 aCt/aTt 0 -CYFIP2 UCSF GRCh37 5 156787375 156787375 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 152 93 230 0 ENST00000521420.1:c.2825C>T p.Ser942Phe p.S942F ENST00000521420 942 tCc/tTc 0 -CYP2C19 UCSF GRCh37 10 96522537 96522537 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 145 133 261 0 ENST00000371321.3:c.75G>A p.Gly25= p.G25= ENST00000371321 NM_000769.1 25 ggG/ggA 0 -CYP2D6 UCSF GRCh37 22 42523985 42523985 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 41 111 0 ENST00000360608.5:c.844G>A p.Ala282Thr p.A282T ENST00000360608 NM_000106.5 282 Gcc/Acc 0 -CYP2W1 UCSF GRCh37 7 1028323 1028323 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 16 28 0 ENST00000308919.7:c.1338G>A p.Leu446= p.L446= ENST00000308919 NM_017781.2 446 ctG/ctA 0 -CYP4A11 UCSF GRCh37 1 47398447 47398447 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 251 169 337 0 ENST00000310638.4:c.1350C>T p.Phe450= p.F450= ENST00000310638 NM_000778.3 450 ttC/ttT 0 -CYP4B1 UCSF GRCh37 1 47283665 47283665 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 145 107 224 0 ENST00000371923.4:c.1236C>T p.Ala412= p.A412= ENST00000371923 NM_001099772.1 412 gcC/gcT 0 -DAB2IP UCSF GRCh37 9 124535010 124535010 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 46 77 0 ENST00000259371.2:c.2119C>T p.Pro707Ser p.P707S ENST00000259371 NM_032552.2 707 Cct/Tct 0 -DACH1 UCSF GRCh37 13 72440792 72440792 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 7 24 0 ENST00000305425.4:c.116C>T p.Ser39Phe p.S39F ENST00000305425 NM_080759.4 39 tCt/tTt 0 -DACT1 UCSF GRCh37 14 59107532 59107532 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 157 120 255 0 ENST00000335867.4:c.424G>A p.Asp142Asn p.D142N ENST00000335867 142 Gat/Aat 0 -DAG1 UCSF GRCh37 3 49568292 49568292 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 50 86 0 ENST00000545947.1:c.348C>T p.Thr116= p.T116= ENST00000545947 NM_001177634.2 116 acC/acT 0 -DAG1 UCSF GRCh37 3 49548030 49548030 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 62 114 0 ENST00000545947.1:c.63G>A p.Leu21= p.L21= ENST00000545947 NM_001177634.2 21 ctG/ctA 0 -DAO UCSF GRCh37 12 109294270 109294270 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 80 163 0 ENST00000228476.3:c.1003G>A p.Glu335Lys p.E335K ENST00000228476 NM_001917.4 335 Gaa/Aaa 0 -DAPK1 UCSF GRCh37 9 90263709 90263709 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 65 168 0 ENST00000408954.3:c.1343C>T p.Ala448Val p.A448V ENST00000408954 NM_004938.2 448 gCc/gTc 0 -DAXX UCSF GRCh37 6 33288940 33288940 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 24 55 0 ENST00000374542.5:c.612G>A p.Arg204= p.R204= ENST00000374542 NM_001141970.1 204 cgG/cgA 0 -DAXX UCSF GRCh37 6 33287477 33287477 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 74 178 0 ENST00000374542.5:c.1620C>T p.Pro540= p.P540= ENST00000374542 NM_001141970.1 540 ccC/ccT 0 -DCAF11 UCSF GRCh37 14 24592253 24592253 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 110 58 115 0 ENST00000446197.3:c.1473G>A p.Trp491Ter p.W491* ENST00000446197 NM_025230.4 491 tgG/tgA 0 -DCAF4 UCSF GRCh37 14 73422231 73422231 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 137 116 232 0 ENST00000358377.2:c.1006G>A p.Ala336Thr p.A336T ENST00000358377 NM_001163509.1 336 Gct/Act 0 -DCAF4L1 UCSF GRCh37 4 41984708 41984708 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 111 93 206 0 ENST00000333141.5:c.899G>A p.Arg300Lys p.R300K ENST00000333141 NM_001029955.3 300 aGg/aAg 0 -DCAF5 UCSF GRCh37 14 69589060 69589060 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 53 136 0 ENST00000341516.5:c.232G>A p.Val78Ile p.V78I ENST00000341516 NM_003861.2 78 Gtt/Att 0 -DCBLD2 UCSF GRCh37 3 98518407 98518407 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 210 118 333 0 ENST00000326840.6:c.2137G>A p.Gly713Arg p.G713R ENST00000326840 NM_080927.3 713 Gga/Aga 0 -DCC UCSF GRCh37 18 50923802 50923802 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 70 149 0 ENST00000442544.2:c.2813C>T p.Thr938Ile p.T938I ENST00000442544 NM_005215.3 938 aCc/aTc 0 -DCDC5 UCSF GRCh37 11 30946895 30946895 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 185 129 290 0 ENST00000339794.5:c.195G>A p.Lys65= p.K65= ENST00000339794 65 aaG/aaA 0 -DCHS2 UCSF GRCh37 4 155156392 155156392 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 69 54 137 0 ENST00000357232.4:c.8047G>A p.Asp2683Asn p.D2683N ENST00000357232 NM_017639.3 2683 Gac/Aac 0 -DCHS2 UCSF GRCh37 4 155411228 155411228 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 16 35 0 ENST00000339452.1:c.1280C>T p.Ser427Phe p.S427F ENST00000339452 NM_001142552.1 427 tCt/tTt 0 -DCLK2 UCSF GRCh37 4 151114344 151114344 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 90 225 0 ENST00000302176.8:c.811C>T p.Pro271Ser p.P271S ENST00000302176 NM_001040261.4 271 Cca/Tca 0 -DCLK2 UCSF GRCh37 4 151023922 151023922 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 59 171 0 ENST00000302176.8:c.714C>T p.Asp238= p.D238= ENST00000302176 NM_001040261.4 238 gaC/gaT 0 -DCLRE1A UCSF GRCh37 10 115608882 115608882 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 223 179 387 0 ENST00000361384.2:c.1982C>T p.Ser661Phe p.S661F ENST00000361384 NM_014881.4 661 tCt/tTt 0 -DCTN4 UCSF GRCh37 5 150133040 150133040 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 35 72 0 ENST00000446090.2:c.385+1G>A p.X129_splice ENST00000446090 NM_001135643.1 0 -DDX17 UCSF GRCh37 22 38881953 38881953 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 64 94 0 ENST00000396821.3:c.2183C>T p.Pro728Leu p.P728L ENST00000396821 NM_006386.4 728 cCt/cTt 0 -DDX24 UCSF GRCh37 14 94528656 94528656 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 171 132 236 0 ENST00000330836.5:c.1030C>T p.Leu344= p.L344= ENST00000330836 NM_020414.3 344 Ctg/Ttg 0 -DDX28 UCSF GRCh37 16 68056152 68056152 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 101 181 0 ENST00000332395.5:c.954C>T p.Asp318= p.D318= ENST00000332395 NM_018380.3 318 gaC/gaT 0 -DDX41 UCSF GRCh37 5 176941964 176941964 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 48 78 0 ENST00000507955.1:c.751C>T p.Pro251Ser p.P251S ENST00000507955 NM_016222.2 251 Ccc/Tcc 0 -DDX60 UCSF GRCh37 4 169206643 169206643 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 34 67 0 ENST00000393743.3:c.1346C>T p.Ser449Phe p.S449F ENST00000393743 NM_017631.5 449 tCc/tTc 0 -DDX60L UCSF GRCh37 4 169343778 169343778 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 67 116 0 ENST00000260184.7:c.2141G>A p.Gly714Glu p.G714E ENST00000260184 NM_001012967.1 714 gGa/gAa 0 -DEC1 UCSF GRCh37 9 118163567 118163567 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 64 147 0 ENST00000374016.1:c.183G>A p.Arg61= p.R61= ENST00000374016 NM_017418.2 61 agG/agA 0 -DEDD2 UCSF GRCh37 19 42703731 42703731 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 35 70 0 ENST00000595337.1:c.840G>A p.Leu280= p.L280= ENST00000595337 NM_001270614.1 280 ctG/ctA 0 -DEFA6 UCSF GRCh37 8 6783437 6783437 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 24 63 0 ENST00000297436.2:c.121C>T p.Gln41Ter p.Q41* ENST00000297436 NM_001926.3 41 Cag/Tag 0 -DEFB115 UCSF GRCh37 20 29845509 29845509 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 56 138 0 ENST00000400552.1:c.43C>T p.Leu15Phe p.L15F ENST00000400552 NM_001037730.1 15 Ctc/Ttc 0 -DENMT-ND3 UCSF GRCh37 8 142146891 142146891 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 6 22 0 ENST00000262585.2:c.145+1G>A p.X49_splice ENST00000262585 NM_014957.2 0 -DENMT-ND3 UCSF GRCh37 8 142165968 142165968 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 104 203 0 ENST00000262585.2:c.855G>A p.Leu285= p.L285= ENST00000262585 NM_014957.2 285 ctG/ctA 0 -DENND4B UCSF GRCh37 1 153915483 153915483 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 49 112 0 ENST00000361217.4:c.441C>T p.Tyr147= p.Y147= ENST00000361217 NM_014856.2 147 taC/taT 0 -DEPDC1B UCSF GRCh37 5 59943252 59943252 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 51 118 0 ENST00000265036.5:c.423G>A p.Glu141= p.E141= ENST00000265036 NM_018369.2 141 gaG/gaA 0 -DGKH UCSF GRCh37 13 42772728 42772728 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 69 164 0 ENST00000337343.4:c.2282C>T p.Ser761Phe p.S761F ENST00000337343 NM_178009.3 761 tCc/tTc 0 -DHRS3 UCSF GRCh37 1 12640563 12640563 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 53 48 104 0 ENST00000376223.2:c.327C>T p.Ala109= p.A109= ENST00000376223 NM_004753.4 109 gcC/gcT 0 -DHRS4 UCSF GRCh37 14 24429110 24429110 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 250 92 339 0 ENST00000313250.5:c.307-1G>A p.X103_splice ENST00000313250 NM_021004.2 0 -DHRS4L2 UCSF GRCh37 14 24464240 24464240 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 424 90 413 0 ENST00000335125.6:c.307-1G>A p.X103_splice ENST00000335125 NM_198083.3 0 -DHX16 UCSF GRCh37 6 30622538 30622538 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 83 135 0 ENST00000376442.3:c.2942C>T p.Pro981Leu p.P981L ENST00000376442 NM_001164239.1 981 cCa/cTa 0 -DHX34 UCSF GRCh37 19 47865856 47865856 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 27 57 0 ENST00000328771.4:c.1499G>A p.Cys500Tyr p.C500Y ENST00000328771 NM_014681.5 500 tGc/tAc 0 -DHX36 UCSF GRCh37 3 154032946 154032946 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 86 158 0 ENST00000496811.1:c.492C>T p.Asp164= p.D164= ENST00000496811 NM_020865.2 164 gaC/gaT 0 -DHX38 UCSF GRCh37 16 72134369 72134369 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 43 80 0 ENST00000268482.3:c.1151C>T p.Thr384Ile p.T384I ENST00000268482 NM_014003.3 384 aCc/aTc 0 -DHX9 UCSF GRCh37 1 182849668 182849668 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 69 138 0 ENST00000367549.3:c.2549C>T p.Pro850Leu p.P850L ENST00000367549 NM_001357.4 850 cCt/cTt 0 -DIABLO UCSF GRCh37 12 122693086 122693086 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 64 44 113 0 ENST00000443649.3:c.562C>T p.Gln188Ter p.Q188* ENST00000443649 NM_019887.5 188 Cag/Tag 0 -DIEXF UCSF GRCh37 1 210024658 210024658 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 78 144 0 ENST00000491415.2:c.2137G>A p.Ala713Thr p.A713T ENST00000491415 NM_014388.6 713 Gcc/Acc 0 -DIP2B UCSF GRCh37 12 51069194 51069194 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 67 142 0 ENST00000301180.5:c.879G>A p.Lys293= p.K293= ENST00000301180 NM_173602.2 293 aaG/aaA 0 -DISP1 UCSF GRCh37 1 223164090 223164090 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 148 71 231 0 ENST00000284476.6:c.663G>A p.Leu221= p.L221= ENST00000284476 NM_032890.3 221 ctG/ctA 0 -DIXDC1 UCSF GRCh37 11 111857613 111857613 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 76 182 0 ENST00000440460.2:c.1024C>T p.Leu342= p.L342= ENST00000440460 NM_001037954.3 342 Ctg/Ttg 0 -DLG5 UCSF GRCh37 10 79579141 79579141 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 26 66 0 ENST00000372391.2:c.3609G>A p.Arg1203= p.R1203= ENST00000372391 NM_004747.3 1203 agG/agA 0 -DLGAP2 UCSF GRCh37 8 1497055 1497055 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 4 19 0 ENST00000421627.2:c.196G>A p.Val66Met p.V66M ENST00000421627 NM_004745.4 66 Gtg/Atg 0 -DLGAP3 UCSF GRCh37 1 35369974 35369974 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 67 123 0 ENST00000373347.1:c.1011C>T p.Val337= p.V337= ENST00000373347 337 gtC/gtT 0 -DLK2 UCSF GRCh37 6 43420863 43420863 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 37 62 0 ENST00000357338.3:c.151G>A p.Gly51Ser p.G51S ENST00000357338 NM_206539.1 51 Ggc/Agc 0 -DLL1 UCSF GRCh37 6 170597827 170597827 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 113 68 190 0 ENST00000366756.3:c.402C>T p.Asp134= p.D134= ENST00000366756 NM_005618.3 134 gaC/gaT 0 -DMAP1 UCSF GRCh37 1 44684045 44684045 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 104 193 0 ENST00000372289.2:c.456G>A p.Trp152Ter p.W152* ENST00000372289 NM_019100.4 152 tgG/tgA 0 -DMXL1 UCSF GRCh37 5 118470064 118470064 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 182 101 326 1 ENST00000311085.8:c.2356C>T p.Leu786Phe p.L786F ENST00000311085 NM_005509.4 786 Ctt/Ttt 0 -DNAAF1 UCSF GRCh37 16 84188229 84188229 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 49 159 0 ENST00000378553.5:c.400C>T p.Leu134Phe p.L134F ENST00000378553 NM_178452.4 134 Ctc/Ttc 0 -DNAH14 UCSF GRCh37 1 225334902 225334902 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 102 197 0 ENST00000328556.5:c.2125G>A p.Ala709Thr p.A709T ENST00000328556 709 Gcc/Acc 0 -DNAH14 UCSF GRCh37 1 225577523 225577523 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 173 125 258 0 ENST00000428003.2:c.82C>T p.Phe28= p.F28= ENST00000428003 28 ttC/ttT 0 -DNAH17 UCSF GRCh37 17 76525584 76525584 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 136 98 191 0 ENST00000389840.5:c.3477G>A p.Glu1159= p.E1159= ENST00000389840 1159 gaG/gaA 0 -DNAH2 UCSF GRCh37 17 7736727 7736727 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 43 139 0 ENST00000572933.1:c.13160C>T p.Pro4387Leu p.P4387L ENST00000572933 4387 cCc/cTc 0 -DNAH2 UCSF GRCh37 17 7637966 7637966 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 70 159 0 ENST00000572933.1:c.918C>T p.Ile306= p.I306= ENST00000572933 306 atC/atT 0 -DNAH3 UCSF GRCh37 16 21080757 21080757 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 86 221 0 ENST00000261383.3:c.3360G>A p.Trp1120Ter p.W1120* ENST00000261383 NM_017539.1 1120 tgG/tgA 0 -DNAH7 UCSF GRCh37 2 196728926 196728926 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 115 71 140 0 ENST00000312428.6:c.7453C>T p.Arg2485Cys p.R2485C ENST00000312428 NM_018897.2 2485 Cgt/Tgt 0 -DNAH8 UCSF GRCh37 6 38690880 38690880 + upstream_gene_variant 5'Flank SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 188 157 297 0 ENST00000359357 0 -DNAH9 UCSF GRCh37 17 11835454 11835454 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 82 210 0 ENST00000262442.4:c.12229C>T p.Pro4077Ser p.P4077S ENST00000262442 NM_001372.3 4077 Ccc/Tcc 0 -DNAH9 UCSF GRCh37 17 11865278 11865278 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 125 96 226 0 ENST00000262442.4:c.12938C>T p.Ser4313Phe p.S4313F ENST00000262442 NM_001372.3 4313 tCc/tTc 0 -DNAH9 UCSF GRCh37 17 11523033 11523033 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 157 116 237 0 ENST00000262442.4:c.1285G>A p.Asp429Asn p.D429N ENST00000262442 NM_001372.3 429 Gat/Aat 0 -DNAH9 UCSF GRCh37 17 11865433 11865433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 124 184 0 ENST00000262442.4:c.13093C>T p.Arg4365Cys p.R4365C ENST00000262442 NM_001372.3 4365 Cgc/Tgc 0 -DNAI2 UCSF GRCh37 17 72295924 72295924 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 41 89 0 ENST00000446837.2:c.792C>T p.Asp264= p.D264= ENST00000446837 264 gaC/gaT 0 -DNAJC1 UCSF GRCh37 10 22171240 22171240 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 139 40 95 1 ENST00000376980.3:c.949G>A p.Glu317Lys p.E317K ENST00000376980 NM_022365.3 317 Gaa/Aaa 0 -DNAJC2 UCSF GRCh37 7 102957397 102957397 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 131 89 211 0 ENST00000379263.3:c.1307C>T p.Ala436Val p.A436V ENST00000379263 NM_014377.1 436 gCa/gTa 0 -DNASE1L1 UCSF GRCh37 X 153633810 153633810 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 39 24 0 ENST00000369809.1:c.100G>A p.Val34Met p.V34M ENST00000369809 NM_001009932.1 34 Gtg/Atg 0 -DNHD1 UCSF GRCh37 11 6588286 6588286 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 98 207 0 ENST00000254579.6:c.11547C>T p.Pro3849= p.P3849= ENST00000254579 NM_144666.2 3849 ccC/ccT 0 -DNM2 UCSF GRCh37 19 10916604 10916604 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 63 43 111 0 ENST00000389253.4:c.1506G>A p.Arg502= p.R502= ENST00000389253 NM_001005361.2 502 agG/agA 0 -DOCK1 UCSF GRCh37 10 129172097 129172097 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 57 169 0 ENST00000280333.6:c.3422G>A p.Gly1141Glu p.G1141E ENST00000280333 NM_001380.3 1141 gGa/gAa 0 -DOCK10 UCSF GRCh37 2 225714287 225714287 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 19 50 0 ENST00000258390.7:c.2172C>T p.Leu724= p.L724= ENST00000258390 NM_014689.2 724 ctC/ctT 0 -DOCK3 UCSF GRCh37 3 51308422 51308422 + synonymous_variant Silent SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 164 137 259 0 ENST00000266037.9:c.2532C>T p.Arg844= p.R844= ENST00000266037 NM_004947.4 844 cgC/cgT 0 -DOCK3 UCSF GRCh37 3 51264836 51264836 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 168 133 285 0 ENST00000266037.9:c.1500C>T p.Phe500= p.F500= ENST00000266037 NM_004947.4 500 ttC/ttT 0 -DOCK7 UCSF GRCh37 1 63027353 63027353 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 107 65 161 0 ENST00000340370.5:c.2134T>C p.Trp712Arg p.W712R ENST00000340370 NM_033407.3 712 Tgg/Cgg 0 -DOK2 UCSF GRCh37 8 21766883 21766883 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 61 134 0 ENST00000276420.4:c.1178C>T p.Ala393Val p.A393V ENST00000276420 NM_003974.2 393 gCt/gTt 0 -DOM3Z UCSF GRCh37 6 31939281 31939281 + missense_variant Missense_Mutation SNP G G A snp132_rs115027323 P18_Rec Untested WXS Illumina HiSeq 65 59 98 0 ENST00000375349.3:c.172C>T p.Arg58Cys p.R58C ENST00000375349 58 Cgc/Tgc 0 -DPEP3 UCSF GRCh37 16 68014163 68014163 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 18 30 0 ENST00000268793.4:c.196G>A p.Gly66Ser p.G66S ENST00000268793 NM_022357.3 66 Ggc/Agc 0 -DPF1 UCSF GRCh37 19 38713026 38713026 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 63 130 0 ENST00000355526.4:c.350C>T p.Pro117Leu p.P117L ENST00000355526 NM_001135155.1 117 cCc/cTc 0 -DPH2 UCSF GRCh37 1 44436675 44436675 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 11 15 0 ENST00000255108.3:c.298G>A p.Ala100Thr p.A100T ENST00000255108 NM_001384.4 100 Gct/Act 0 -DPH2 UCSF GRCh37 1 44437200 44437200 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 77 149 0 ENST00000255108.3:c.626G>A p.Arg209Lys p.R209K ENST00000255108 NM_001384.4 209 aGg/aAg 0 -DPY19L3 UCSF GRCh37 19 32971452 32971452 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 42 75 0 ENST00000342179.5:c.1978G>A p.Ala660Thr p.A660T ENST00000342179 NM_207325.2 660 Gcc/Acc 0 -DPY19L4 UCSF GRCh37 8 95793303 95793310 + splice_acceptor_variant,intron_variant Splice_Site INS GCATTTTA GCATTTTA TTCCTTTTT NOVEL P18_Rec Untested WXS Illumina HiSeq 10 0 ENST00000414645.2:c.1633-9_1633-2delinsTTCCTTTTT p.X545_splice ENST00000414645 NM_181787.2 0 -DPYD UCSF GRCh37 1 97564070 97564070 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 93 247 0 ENST00000370192.3:c.2741C>T p.Pro914Leu p.P914L ENST00000370192 NM_000110.3 914 cCc/cTc 0 -DPYSL2 UCSF GRCh37 8 26485411 26485411 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 19 50 0 ENST00000311151.5:c.645G>A p.Leu215= p.L215= ENST00000311151 NM_001386.5 215 ctG/ctA 0 -DSCAML1 UCSF GRCh37 11 117387190 117387190 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 21 54 0 ENST00000321322.6:c.1955C>T p.Ala652Val p.A652V ENST00000321322 NM_020693.2 652 gCc/gTc 0 -DSCR4 UCSF GRCh37 21 39492435 39492435 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 46 116 0 ENST00000328264.3:c.196C>T p.Pro66Ser p.P66S ENST00000328264 NM_005867.2 66 Cct/Tct 0 -DSP UCSF GRCh37 6 7582925 7582925 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 122 86 172 0 ENST00000379802.3:c.5430G>A p.Gln1810= p.Q1810= ENST00000379802 NM_004415.2 1810 caG/caA 0 -DSPP UCSF GRCh37 4 88534257 88534257 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 56 166 1 ENST00000399271.1:c.919C>A p.Pro307Thr p.P307T ENST00000399271 NM_014208.3 307 Cct/Act 0 -DST UCSF GRCh37 6 56330989 56330989 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 123 86 210 0 ENST00000244364.6:c.14705G>A p.Gly4902Glu p.G4902E ENST00000244364 NM_015548.4 4902 gGa/gAa 0 -DST UCSF GRCh37 6 56422302 56422302 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 101 71 170 0 ENST00000244364.6:c.6586G>A p.Glu2196Lys p.E2196K ENST00000244364 NM_015548.4 2196 Gaa/Aaa 0 -DST UCSF GRCh37 6 56433267 56433267 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 191 128 295 0 ENST00000244364.6:c.6136G>A p.Gly2046Ser p.G2046S ENST00000244364 NM_015548.4 2046 Ggt/Agt 0 -DUOX2 UCSF GRCh37 15 45393011 45393011 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 58 119 0 ENST00000603300.1:c.2947C>T p.Pro983Ser p.P983S ENST00000603300 NM_014080.4 983 Cct/Tct 0 -DUOX2 UCSF GRCh37 15 45401098 45401098 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 67 170 0 ENST00000603300.1:c.1287C>T p.Ser429= p.S429= ENST00000603300 NM_014080.4 429 agC/agT 0 -DUS1L UCSF GRCh37 17 80022025 80022025 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 20 46 0 ENST00000354321.7:c.323G>A p.Cys108Tyr p.C108Y ENST00000354321 108 tGc/tAc 0 -DUSP11 UCSF GRCh37 2 74005494 74005494 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 54 127 0 ENST00000272444.3:c.252C>T p.Asp84= p.D84= ENST00000272444 NM_003584.2 84 gaC/gaT 0 -DUSP22 UCSF GRCh37 6 348153 348153 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 225 73 284 0 ENST00000344450.5:c.314C>T p.Thr105Ile p.T105I ENST00000344450 NM_020185.3 105 aCc/aTc 0 -DUSP22 UCSF GRCh37 6 345859 345859 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 27 113 0 ENST00000344450.5:c.194G>A p.Arg65Lys p.R65K ENST00000344450 NM_020185.3 65 aGa/aAa 0 -DVL2 UCSF GRCh37 17 7133431 7133431 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 63 153 0 ENST00000005340.5:c.454G>A p.Glu152Lys p.E152K ENST00000005340 NM_004422.2 152 Gaa/Aaa 0 -DYNC1H1 UCSF GRCh37 14 102446879 102446879 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 41 88 0 ENST00000360184.4:c.953C>T p.Thr318Ile p.T318I ENST00000360184 NM_001376.4 318 aCt/aTt 0 -DYTN UCSF GRCh37 2 207572123 207572123 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 75 178 0 ENST00000452335.2:c.199C>T p.Gln67Ter p.Q67* ENST00000452335 NM_001093730.1 67 Caa/Taa 0 -DZIP3 UCSF GRCh37 3 108403174 108403174 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 195 146 283 0 ENST00000361582.3:c.2995C>T p.Pro999Ser p.P999S ENST00000361582 NM_014648.3 999 Cct/Tct 0 -E2F3 UCSF GRCh37 6 20483110 20483110 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 65 163 0 ENST00000346618.3:c.843C>T p.Thr281= p.T281= ENST00000346618 NM_001949.4 281 acC/acT 0 -E2F8 UCSF GRCh37 11 19259421 19259421 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 176 113 256 0 ENST00000527884.1:c.274G>A p.Glu92Lys p.E92K ENST00000527884 NM_001256372.1 92 Gag/Aag 0 -E4F1 UCSF GRCh37 16 2282801 2282801 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 145 45 99 0 ENST00000301727.4:c.775G>A p.Glu259Lys p.E259K ENST00000301727 NM_004424.3 259 Gag/Aag 0 -EBF3 UCSF GRCh37 10 131755587 131755587 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 77 156 0 ENST00000368648.3:c.489G>A p.Arg163= p.R163= ENST00000368648 NM_001005463.2 163 cgG/cgA 0 -ECD UCSF GRCh37 10 74923685 74923685 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 83 175 0 ENST00000430082.2:c.11C>T p.Thr4Ile p.T4I ENST00000430082 NM_001135752.1 4 aCc/aTc 0 -ECE2 UCSF GRCh37 3 184009200 184009200 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 29 81 0 ENST00000402825.3:c.2448C>T p.His816= p.H816= ENST00000402825 NM_014693.3 816 caC/caT 0 -ECEL1 UCSF GRCh37 2 233346327 233346327 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 14 38 0 ENST00000304546.1:c.1878C>T p.Asp626= p.D626= ENST00000304546 NM_004826.2 626 gaC/gaT 0 -ECT2L UCSF GRCh37 6 139186154 139186154 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 43 133 0 ENST00000423192.1:c.1313C>T p.Ser438Phe p.S438F ENST00000423192 438 tCc/tTc 0 -EDC4 UCSF GRCh37 16 67914460 67914460 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 113 85 181 0 ENST00000358933.5:c.2098G>A p.Val700Met p.V700M ENST00000358933 NM_014329.4 700 Gtg/Atg 0 -EDDM3B UCSF GRCh37 14 21238360 21238360 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 65 129 0 ENST00000326783.3:c.51C>T p.Ile17= p.I17= ENST00000326783 NM_022360.4 17 atC/atT 0 -EEF1G UCSF GRCh37 11 62339367 62339367 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 43 82 0 ENST00000329251.4:c.178G>A p.Ala60Thr p.A60T ENST00000329251 NM_001404.4 60 Gca/Aca 0 -EEFSEC UCSF GRCh37 3 128060344 128060344 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 84 68 139 0 ENST00000254730.6:c.1055G>A p.Ser352Asn p.S352N ENST00000254730 NM_021937.3 352 aGt/aAt 0 -EFCAB4B UCSF GRCh37 12 3757770 3757770 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 44 29 76 0 ENST00000440314.2:c.1056C>T p.Tyr352= p.Y352= ENST00000440314 NM_001144958.1 352 taC/taT 0 -EFNA2 UCSF GRCh37 19 1295590 1295590 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 8 26 0 ENST00000215368.2:c.187G>A p.Val63Met p.V63M ENST00000215368 NM_001405.3 63 Gtg/Atg 0 -EFNA3 UCSF GRCh37 1 155058671 155058671 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 13 37 0 ENST00000368408.3:c.576C>T p.Ile192= p.I192= ENST00000368408 NM_004952.4 192 atC/atT 0 -EFS UCSF GRCh37 14 23829833 23829833 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 28 70 0 ENST00000216733.3:c.228C>T p.Leu76= p.L76= ENST00000216733 NM_005864.3 76 ctC/ctT 0 -EGFR UCSF GRCh37 7 55242501 55242501 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 56 144 0 ENST00000275493.2:c.2271G>A p.Lys757= p.K757= ENST00000275493 NM_005228.3 757 aaG/aaA 0 -EGR2 UCSF GRCh37 10 64574204 64574204 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 49 111 0 ENST00000242480.3:c.194C>T p.Thr65Ile p.T65I ENST00000242480 NM_001136177.1 65 aCt/aTt 0 -EHD2 UCSF GRCh37 19 48220001 48220001 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 19 51 0 ENST00000263277.3:c.132C>T p.Ala44= p.A44= ENST00000263277 NM_014601.3 44 gcC/gcT 0 -EHMT2 UCSF GRCh37 6 31854826 31854826 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 37 74 0 ENST00000375537.4:c.2064C>T p.Pro688= p.P688= ENST00000375537 NM_006709.3 688 ccC/ccT 0 -EHMT2 UCSF GRCh37 6 31864507 31864507 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 55 146 0 ENST00000375537.4:c.204C>T p.Ala68= p.A68= ENST00000375537 NM_006709.3 68 gcC/gcT 0 -EIF2AK1 UCSF GRCh37 7 6064421 6064421 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 110 84 178 0 ENST00000199389.6:c.1776C>T p.Thr592= p.T592= ENST00000199389 NM_001134335.1 592 acC/acT 0 -EIF2C1 UCSF GRCh37 1 36385140 36385140 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 15 46 0 ENST00000373204.4:c.2506G>A p.Asp836Asn p.D836N ENST00000373204 NM_012199.2 836 Gac/Aac 0 -EIF2C2 UCSF GRCh37 8 141568663 141568663 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 49 114 0 ENST00000220592.5:c.799G>A p.Val267Met p.V267M ENST00000220592 NM_012154.3 267 Gtg/Atg 0 -EIF3A UCSF GRCh37 10 120833414 120833414 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 81 63 127 0 ENST00000369144.3:c.85G>A p.Asp29Asn p.D29N ENST00000369144 NM_003750.2 29 Gat/Aat 0 -EIF5B UCSF GRCh37 2 99984995 99984995 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 43 115 0 ENST00000289371.6:c.1328G>A p.Arg443Lys p.R443K ENST00000289371 NM_015904.3 443 aGg/aAg 0 -ELF1 UCSF GRCh37 13 41515250 41515250 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 142 134 270 0 ENST00000239882.3:c.1063C>T p.Pro355Ser p.P355S ENST00000239882 NM_172373.3 355 Ccc/Tcc 0 -ELF5 UCSF GRCh37 11 34502512 34502512 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 48 127 0 ENST00000312319.2:c.508C>T p.Leu170Phe p.L170F ENST00000312319 NM_001243081.1 170 Ctc/Ttc 0 -ELP4 UCSF GRCh37 11 31531461 31531461 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 30 71 0 ENST00000350638.5:c.130C>T p.Pro44Ser p.P44S ENST00000350638 NM_019040.3 44 Cct/Tct 0 -ELP4 UCSF GRCh37 11 31561313 31561313 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 126 97 192 0 ENST00000350638.5:c.364C>T p.Pro122Ser p.P122S ENST00000350638 NM_019040.3 122 Cct/Tct 0 -EMID1 UCSF GRCh37 22 29654839 29654839 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 26 69 0 ENST00000334018.6:c.1238G>A p.Gly413Asp p.G413D ENST00000334018 NM_001267895.1 413 gGc/gAc 0 -EML4 UCSF GRCh37 2 42513493 42513493 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 125 195 0 ENST00000318522.5:c.1096G>A p.Val366Ile p.V366I ENST00000318522 NM_019063.3 366 Gta/Ata 0 -ENC1 UCSF GRCh37 5 73932029 73932029 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 72 159 0 ENST00000302351.4:c.282C>T p.His94= p.H94= ENST00000302351 NM_003633.3 94 caC/caT 0 -ENOSF1 UCSF GRCh37 18 677400 677400 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 60 156 0 ENST00000340116.7:c.1114G>A p.Val372Met p.V372M ENST00000340116 NM_202758.3 372 Gtg/Atg 0 -ENPP2 UCSF GRCh37 8 120575108 120575108 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 57 170 0 ENST00000259486.6:c.2566G>A p.Glu856Lys p.E856K ENST00000259486 NM_006209.4 856 Gag/Aag 0 -ENPP3 UCSF GRCh37 6 131962671 131962671 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 51 86 0 ENST00000414305.1:c.154+1G>A p.X52_splice ENST00000414305 0 -EP300 UCSF GRCh37 22 41554450 41554450 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 45 93 0 ENST00000263253.7:c.3536G>A p.Gly1179Asp p.G1179D ENST00000263253 NM_001429.3 1179 gGc/gAc 0 -EP400 UCSF GRCh37 12 132445312 132445312 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 35 73 0 ENST00000389561.2:c.148G>A p.Ala50Thr p.A50T ENST00000389561 NM_015409.4 50 Gca/Aca 0 -EPB41L1 UCSF GRCh37 20 34802304 34802304 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 29 51 0 ENST00000338074.2:c.2210G>A p.Gly737Glu p.G737E ENST00000338074 NM_012156.2 737 gGg/gAg 0 -EPB42 UCSF GRCh37 15 43489632 43489632 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 72 49 120 0 ENST00000300215.3:c.2034G>A p.Met678Ile p.M678I ENST00000300215 678 atG/atA 0 -EPG5 UCSF GRCh37 18 43460180 43460180 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 41 48 88 0 ENST00000282041.5:c.5527G>A p.Glu1843Lys p.E1843K ENST00000282041 NM_020964.2 1843 Gag/Aag 0 -EPHA3 UCSF GRCh37 3 89259579 89259579 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 191 130 282 0 ENST00000336596.2:c.723G>A p.Arg241= p.R241= ENST00000336596 NM_005233.5 241 agG/agA 0 -EPHB2 UCSF GRCh37 1 23233224 23233224 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 34 36 83 0 ENST00000374632.3:c.1913G>A p.Ser638Asn p.S638N ENST00000374632 638 aGt/aAt 0 -EPHB2 UCSF GRCh37 1 23236953 23236953 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 61 128 0 ENST00000374632.3:c.2584G>A p.Asp862Asn p.D862N ENST00000374632 862 Gac/Aac 0 -EPHB4 UCSF GRCh37 7 100405188 100405188 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 43 138 0 ENST00000358173.3:c.2133G>A p.Gln711= p.Q711= ENST00000358173 NM_004444.4 711 caG/caA 0 -EPM2AIP1 UCSF GRCh37 3 37033760 37033760 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 129 107 184 0 ENST00000322716.5:c.809C>T p.Pro270Leu p.P270L ENST00000322716 NM_014805.3 270 cCc/cTc 0 -EPPK1 UCSF GRCh37 8 144941870 144941870 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 123 91 194 1 ENST00000525985.1:c.5552G>A p.Arg1851Lys p.R1851K ENST00000525985 NM_031308.2 1851 aGa/aAa 0 -EPPK1 UCSF GRCh37 8 144945283 144945283 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 65 146 0 ENST00000525985.1:c.2139G>A p.Arg713= p.R713= ENST00000525985 NM_031308.2 713 cgG/cgA 0 -EPX UCSF GRCh37 17 56274611 56274611 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 57 43 97 0 ENST00000225371.5:c.1113C>T p.Phe371= p.F371= ENST00000225371 NM_000502.4 371 ttC/ttT 0 -ERAP1 UCSF GRCh37 5 96139106 96139106 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 69 147 0 ENST00000296754.3:c.524G>A p.Arg175Lys p.R175K ENST00000296754 NM_016442.3 175 aGg/aAg 0 -ERBB2IP UCSF GRCh37 5 65350661 65350661 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 51 156 0 ENST00000506030.1:c.3515G>A p.Arg1172Lys p.R1172K ENST00000506030 1172 aGa/aAa 0 -ERBB4 UCSF GRCh37 2 212483992 212483992 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 39 98 0 ENST00000342788.4:c.2211G>A p.Trp737Ter p.W737* ENST00000342788 NM_005235.2 737 tgG/tgA 0 -ERP27 UCSF GRCh37 12 15070178 15070178 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 152 85 198 0 ENST00000266397.2:c.510G>A p.Lys170= p.K170= ENST00000266397 NM_152321.2 170 aaG/aaA 0 -ESRRB UCSF GRCh37 14 76966402 76966402 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 63 139 0 ENST00000380887.2:c.1493G>A p.Gly498Glu p.G498E ENST00000380887 498 gGa/gAa 0 -ESRRG UCSF GRCh37 1 216692502 216692502 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 45 152 0 ENST00000366937.1:c.1160C>T p.Ala387Val p.A387V ENST00000366937 NM_001243518.1 387 gCt/gTt 0 -ETFB UCSF GRCh37 19 51869553 51869553 + intron_variant,NMD_transcript_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 16 26 0 ENST00000600067.1:c.115+1587G>A *39* ENST00000600067 0 -ETFDH UCSF GRCh37 4 159627470 159627470 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 73 156 0 ENST00000511912.1:c.1415G>A p.Gly472Glu p.G472E ENST00000511912 NM_004453.2 472 gGa/gAa 0 -ETS1 UCSF GRCh37 11 128359262 128359262 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 174 153 313 0 ENST00000392668.4:c.458G>A p.Gly153Asp p.G153D ENST00000392668 NM_001143820.1 153 gGt/gAt 0 -ETV3 UCSF GRCh37 1 157095543 157095543 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 31 46 0 ENST00000368192.4:c.629C>T p.Ser210Phe p.S210F ENST00000368192 NM_001145312.1 210 tCc/tTc 0 -EXOC6 UCSF GRCh37 10 94700484 94700484 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 27 88 0 ENST00000260762.6:c.1213G>A p.Gly405Ser p.G405S ENST00000260762 NM_019053.4 405 Ggt/Agt 0 -EXOSC2 UCSF GRCh37 9 133573605 133573605 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 54 89 0 ENST00000372358.5:c.327G>A p.Leu109= p.L109= ENST00000372358 109 ctG/ctA 0 -EXPH5 UCSF GRCh37 11 108382821 108382821 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 124 75 222 0 ENST00000265843.4:c.3413G>A p.Gly1138Glu p.G1138E ENST00000265843 NM_015065.2 1138 gGa/gAa 0 -EYA3 UCSF GRCh37 1 28362189 28362189 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 88 209 0 ENST00000373871.3:c.227C>T p.Pro76Leu p.P76L ENST00000373871 76 cCt/cTt 0 -EZR UCSF GRCh37 6 159205752 159205752 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 32 91 0 ENST00000367075.3:c.475G>A p.Asp159Asn p.D159N ENST00000367075 NM_001111077.1 159 Gac/Aac 0 -F2RL3 UCSF GRCh37 19 17000773 17000773 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 12 6 19 0 ENST00000248076.3:c.499C>T p.Leu167= p.L167= ENST00000248076 NM_003950.2 167 Ctg/Ttg 0 -FAF1 UCSF GRCh37 1 51253837 51253837 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 56 168 0 ENST00000396153.2:c.202C>T p.Pro68Ser p.P68S ENST00000396153 NM_007051.2 68 Cca/Tca 0 -FAF2 UCSF GRCh37 5 175913454 175913454 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 70 145 0 ENST00000261942.6:c.231G>A p.Arg77= p.R77= ENST00000261942 NM_014613.2 77 agG/agA 0 -FAM105A UCSF GRCh37 5 14609106 14609106 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0011 P18_Rec Untested WXS Illumina HiSeq 208 135 280 0 ENST00000274217.3:c.877G>A p.Asp293Asn p.D293N ENST00000274217 NM_019018.2 293 Gac/Aac 0 -FAM107B UCSF GRCh37 10 14816616 14816616 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 168 71 149 0 ENST00000181796.2:c.47C>T p.Ser16Phe p.S16F ENST00000181796 NM_031453.2 16 tCt/tTt 0 -FAM109B UCSF GRCh37 22 42474031 42474031 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 9 20 0 ENST00000321753.3:c.734G>A p.Arg245Lys p.R245K ENST00000321753 NM_001002034.2 245 aGg/aAg 0 -FAM110B UCSF GRCh37 8 59059803 59059803 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 60 112 0 ENST00000361488.3:c.1014G>A p.Val338= p.V338= ENST00000361488 NM_147189.2 338 gtG/gtA 0 -FAM116A UCSF GRCh37 3 57614579 57614579 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 84 204 0 ENST00000311128.5:c.1654G>A p.Val552Ile p.V552I ENST00000311128 NM_152678.2 552 Gta/Ata 0 -FAM123C UCSF GRCh37 2 131519926 131519926 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 12 28 0 ENST00000423981.1:c.281C>T p.Thr94Ile p.T94I ENST00000423981 NM_001105194.1 94 aCt/aTt 0 -FAM129C UCSF GRCh37 19 17653039 17653039 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 82 145 1 ENST00000335393.4:c.1358C>T p.Ala453Val p.A453V ENST00000335393 NM_173544.4 453 gCa/gTa 0 -FAM131C UCSF GRCh37 1 16386429 16386429 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 6 36 0 ENST00000375662.4:c.386C>T p.Ser129Phe p.S129F ENST00000375662 NM_182623.2 129 tCc/tTc 0 -FAM13B UCSF GRCh37 5 137278595 137278595 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 129 111 209 0 ENST00000033079.3:c.2491C>T p.Leu831Phe p.L831F ENST00000033079 NM_016603.2 831 Ctc/Ttc 0 -FAM149A UCSF GRCh37 4 187078868 187078868 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 72 113 0 ENST00000227065.4:c.724C>T p.Pro242Ser p.P242S ENST00000227065 NM_015398.2 242 Ccc/Tcc 0 -FAM149B1 UCSF GRCh37 10 74995047 74995047 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 142 105 226 0 ENST00000242505.6:c.1573C>T p.Pro525Ser p.P525S ENST00000242505 NM_173348.1 525 Ccc/Tcc 0 -FAM154B UCSF GRCh37 15 82574934 82574934 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 110 69 170 0 ENST00000339465.5:c.728G>A p.Gly243Asp p.G243D ENST00000339465 NM_001008226.1 243 gGt/gAt 0 -FAM160A2 UCSF GRCh37 11 6245656 6245656 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 50 137 0 ENST00000265978.4:c.91G>A p.Ala31Thr p.A31T ENST00000265978 NM_032127.3 31 Gct/Act 0 -FAM161B UCSF GRCh37 14 74411536 74411536 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 21 43 0 ENST00000286544.3:c.616C>A p.Pro206Thr p.P206T ENST00000286544 NM_152445.2 206 Ccc/Acc 0 -FAM163A UCSF GRCh37 1 179783116 179783116 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 32 83 0 ENST00000341785.4:c.296C>T p.Ser99Phe p.S99F ENST00000341785 NM_173509.2 99 tCc/tTc 0 -FAM171B UCSF GRCh37 2 187605111 187605111 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 68 159 1 ENST00000304698.5:c.395G>A p.Gly132Glu p.G132E ENST00000304698 NM_177454.3 132 gGa/gAa 0 -FAM171B UCSF GRCh37 2 187627152 187627152 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 76 160 0 ENST00000304698.5:c.2083G>A p.Gly695Ser p.G695S ENST00000304698 NM_177454.3 695 Ggc/Agc 0 -FAM178B UCSF GRCh37 2 97637810 97637810 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 7 16 0 ENST00000490605.2:c.392C>T p.Ala131Val p.A131V ENST00000490605 131 gCc/gTc 0 -FAM180B UCSF GRCh37 11 47609803 47609803 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 34 83 0 ENST00000356737.2:c.492C>T p.Leu164= p.L164= ENST00000356737 164 ctC/ctT 0 -FAM184B UCSF GRCh37 4 17654527 17654527 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 11 20 0 ENST00000265018.3:c.2117C>T p.Ala706Val p.A706V ENST00000265018 NM_015688.1 706 gCc/gTc 0 -FAM188A UCSF GRCh37 10 15902243 15902243 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 19 28 0 ENST00000277632.3:c.56C>T p.Pro19Leu p.P19L ENST00000277632 NM_024948.2 19 cCc/cTc 0 -FAM194B UCSF GRCh37 13 46171026 46171026 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 145 95 220 0 ENST00000298738.2:c.115G>A p.Asp39Asn p.D39N ENST00000298738 NM_182542.2 39 Gat/Aat 0 -FAM203A UCSF GRCh37 8 145193675 145193675 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 29 88 0 ENST00000347708.4:c.752C>T p.Pro251Leu p.P251L ENST00000347708 NM_016458.2 251 cCc/cTc 0 -FAM208B UCSF GRCh37 10 5788719 5788719 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 358 148 299 0 ENST00000328090.5:c.3335C>T p.Ser1112Phe p.S1112F ENST00000328090 NM_017782.4 1112 tCt/tTt 0 -FAM20A UCSF GRCh37 17 66537057 66537057 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 18 20 34 0 ENST00000592554.1:c.1152C>T p.Ile384= p.I384= ENST00000592554 NM_001243746.1 384 atC/atT 0 -FAM32A UCSF GRCh37 19 16296498 16296498 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 11 24 0 ENST00000263384.7:c.138G>A p.Lys46= p.K46= ENST00000263384 NM_014077.2 46 aaG/aaA 0 -FAM40A UCSF GRCh37 1 110590402 110590402 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 8 13 0 ENST00000369795.3:c.1572C>T p.Leu524= p.L524= ENST00000369795 NM_033088.3 524 ctC/ctT 0 -FAM47E UCSF GRCh37 4 77199326 77199326 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 59 125 0 ENST00000424749.2:c.975G>A p.Glu325= p.E325= ENST00000424749 NM_001136570.2 325 gaG/gaA 0 -FAM65A UCSF GRCh37 16 67572917 67572917 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 35 103 0 ENST00000422602.2:c.342G>A p.Gln114= p.Q114= ENST00000422602 NM_001193523.1 114 caG/caA 0 -GARIN3 UCSF GRCh37 5 156590120 156590120 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 46 101 0 ENST00000302938.4:c.1156G>A p.Ala386Thr p.A386T ENST00000302938 NM_130899.2 386 Gca/Aca 0 -GARIN1B UCSF GRCh37 7 128355653 128355653 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 73 128 0 ENST00000315184.5:c.158G>A p.Gly53Asp p.G53D ENST00000315184 NM_032599.2 53 gGt/gAt 0 -FAM73B UCSF GRCh37 9 131825526 131825526 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 13 51 0 ENST00000358369.4:c.1014G>A p.Thr338= p.T338= ENST00000358369 NM_032809.2 338 acG/acA 0 -FAM83G UCSF GRCh37 17 18891670 18891670 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 64 158 0 ENST00000388995.6:c.580G>A p.Asp194Asn p.D194N ENST00000388995 194 Gac/Aac 0 -FAM84A UCSF GRCh37 2 14774968 14774968 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 28 46 0 ENST00000295092.2:c.865G>A p.Asp289Asn p.D289N ENST00000295092 NM_145175.2 289 Gac/Aac 0 -FANCD2 UCSF GRCh37 3 10128823 10128823 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 201 147 313 0 ENST00000287647.3:c.3341G>A p.Ser1114Asn p.S1114N ENST00000287647 NM_033084.3 1114 aGc/aAc 0 -FANCM UCSF GRCh37 14 45636326 45636326 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 88 200 0 ENST00000267430.5:c.1962G>A p.Arg654= p.R654= ENST00000267430 NM_020937.2 654 cgG/cgA 0 -FARP1 UCSF GRCh37 13 99047730 99047730 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 37 101 0 ENST00000319562.6:c.1414G>A p.Gly472Ser p.G472S ENST00000319562 NM_005766.2 472 Ggc/Agc 0 -FARSB UCSF GRCh37 2 223464748 223464748 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 118 210 0 ENST00000281828.6:c.1517C>T p.Pro506Leu p.P506L ENST00000281828 NM_005687.3 506 cCt/cTt 0 -FASN UCSF GRCh37 17 80045130 80045130 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 15 5 26 0 ENST00000306749.2:c.3224-1G>A p.X1075_splice ENST00000306749 NM_004104.4 0 -FAT1 UCSF GRCh37 4 187558026 187558026 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 219 182 348 0 ENST00000441802.2:c.3685G>A p.Ala1229Thr p.A1229T ENST00000441802 NM_005245.3 1229 Gca/Aca 0 -FAT1 UCSF GRCh37 4 187516856 187516856 + synonymous_variant Silent SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 197 118 277 0 ENST00000441802.2:c.13125G>T p.Ser4375= p.S4375= ENST00000441802 NM_005245.3 4375 tcG/tcT 0 -FAT3 UCSF GRCh37 11 92539561 92539561 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 89 197 0 ENST00000298047.6:c.9127C>T p.Pro3043Ser p.P3043S ENST00000298047 3043 Cca/Tca 0 -FAT3 UCSF GRCh37 11 92592401 92592401 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 167 97 211 0 ENST00000298047.6:c.11571G>A p.Glu3857= p.E3857= ENST00000298047 3857 gaG/gaA 0 -FAT4 UCSF GRCh37 4 126241968 126241968 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 93 210 0 ENST00000394329.3:c.4402C>T p.His1468Tyr p.H1468Y ENST00000394329 NM_024582.4 1468 Cac/Tac 0 -FAT4 UCSF GRCh37 4 126239253 126239253 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 61 162 0 ENST00000394329.3:c.1687G>A p.Val563Met p.V563M ENST00000394329 NM_024582.4 563 Gtg/Atg 0 -FAT4 UCSF GRCh37 4 126411568 126411568 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 93 185 0 ENST00000394329.3:c.13591G>A p.Gly4531Arg p.G4531R ENST00000394329 NM_024582.4 4531 Ggg/Agg 0 -FBN2 UCSF GRCh37 5 127674694 127674694 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 79 176 0 ENST00000508053.1:c.3403C>T p.Pro1135Ser p.P1135S ENST00000508053 1135 Ccg/Tcg 0 -FBN3 UCSF GRCh37 19 8131101 8131101 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 27 46 0 ENST00000600128.1:c.8132G>A p.Gly2711Asp p.G2711D ENST00000600128 2711 gGc/gAc 0 -FBN3 UCSF GRCh37 19 8171033 8171033 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 47 81 0 ENST00000600128.1:c.4772C>T p.Pro1591Leu p.P1591L ENST00000600128 1591 cCa/cTa 0 -FBXL2 UCSF GRCh37 3 33418797 33418797 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 65 166 0 ENST00000484457.1:c.821C>T p.Thr274Ile p.T274I ENST00000484457 NM_012157.3 274 aCt/aTt 0 -FBXL5 UCSF GRCh37 4 15607372 15607372 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 28 78 0 ENST00000341285.3:c.2050C>T p.Arg684Ter p.R684* ENST00000341285 NM_001193534.1 684 Cga/Tga 0 -FBXO15 UCSF GRCh37 18 71797856 71797856 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 63 48 123 0 ENST00000419743.2:c.370C>T p.Pro124Ser p.P124S ENST00000419743 NM_001142958.1 124 Cct/Tct 0 -FBXO25 UCSF GRCh37 8 413085 413085 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 320 133 267 0 ENST00000276326.5:c.922C>T p.Pro308Ser p.P308S ENST00000276326 NM_183421.1 308 Cca/Tca 0 -FBXO34 UCSF GRCh37 14 55818764 55818764 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 152 97 239 0 ENST00000313833.4:c.1656G>A p.Lys552= p.K552= ENST00000313833 NM_017943.3 552 aaG/aaA 0 -FBXO36 UCSF GRCh37 2 230787285 230787285 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 41 36 77 0 ENST00000283946.3:c.56C>T p.Pro19Leu p.P19L ENST00000283946 NM_174899.4 19 cCt/cTt 0 -FBXO40 UCSF GRCh37 3 121341334 121341334 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 113 66 191 0 ENST00000338040.4:c.1058C>T p.Pro353Leu p.P353L ENST00000338040 NM_016298.3 353 cCt/cTt 0 -FCGBP UCSF GRCh37 19 40421162 40421162 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 37 50 0 ENST00000221347.6:c.2759C>T p.Thr920Met p.T920M ENST00000221347 NM_003890.2 920 aCg/aTg 0 -FCGR2B UCSF GRCh37 1 161642974 161642974 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 125 32 232 1 ENST00000358671.5:c.601G>A p.Gly201Ser p.G201S ENST00000358671 NM_001002275.2 201 Ggc/Agc 0 -FCRL1 UCSF GRCh37 1 157772450 157772450 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 29 72 0 ENST00000368176.3:c.324C>T p.Val108= p.V108= ENST00000368176 NM_001159398.1 108 gtC/gtT 0 -FCRL3 UCSF GRCh37 1 157659708 157659708 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 51 111 0 ENST00000368184.3:c.1691-1G>A p.X564_splice ENST00000368184 NM_052939.3 0 -FCRL5 UCSF GRCh37 1 157490246 157490246 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 8 21 0 ENST00000361835.3:c.2607C>T p.Leu869= p.L869= ENST00000361835 NM_001195388.1 869 ctC/ctT 0 -FCRLA UCSF GRCh37 1 161681016 161681016 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 33 52 1 ENST00000367959.2:c.320G>A p.Gly107Asp p.G107D ENST00000367959 NM_001184866.1 107 gGt/gAt 0 -FDXR UCSF GRCh37 17 72868192 72868192 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 23 42 0 ENST00000442102.2:c.146C>T p.Ala49Val p.A49V ENST00000442102 NM_001258012.1 49 gCt/gTt 0 -FEM1B UCSF GRCh37 15 68583057 68583057 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 124 255 0 ENST00000306917.4:c.1361C>T p.Ser454Phe p.S454F ENST00000306917 NM_015322.4 454 tCt/tTt 0 -FEM1C UCSF GRCh37 5 114860449 114860449 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 149 125 264 0 ENST00000274457.3:c.1410C>T p.Tyr470= p.Y470= ENST00000274457 NM_020177.2 470 taC/taT 0 -FER1L5 UCSF GRCh37 2 97361303 97361303 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 29 50 0 ENST00000397978.2:n.110G>A *37* ENST00000397978 0 -FER1L6 UCSF GRCh37 8 124978482 124978482 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 43 107 0 ENST00000522917.1:c.336G>A p.Lys112= p.K112= ENST00000522917 NM_001039112.2 112 aaG/aaA 0 -FERD3L UCSF GRCh37 7 19184684 19184684 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 46 82 0 ENST00000275461.3:c.302C>T p.Ala101Val p.A101V ENST00000275461 NM_152898.2 101 gCc/gTc 0 -FERMT3 UCSF GRCh37 11 63978082 63978082 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 56 150 0 ENST00000279227.5:c.161-1G>A p.X54_splice ENST00000279227 NM_178443.2 0 -FES UCSF GRCh37 15 91428447 91428447 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 63 40 103 0 ENST00000328850.3:c.172G>A p.Gly58Ser p.G58S ENST00000328850 NM_002005.3 58 Ggc/Agc 0 -FGF7 UCSF GRCh37 15 49716728 49716728 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 127 83 175 0 ENST00000267843.4:c.234G>A p.Arg78= p.R78= ENST00000267843 NM_002009.3 78 agG/agA 0 -FGFBP2 UCSF GRCh37 4 15964451 15964451 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 69 8 81 0 ENST00000259989.6:c.302G>A p.Arg101His p.R101H ENST00000259989 NM_031950.3 101 cGc/cAc 0 -FGGY UCSF GRCh37 1 60133032 60133032 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 130 205 0 ENST00000371218.4:c.1446C>T p.Leu482= p.L482= ENST00000371218 NM_001113411.1 482 ctC/ctT 0 -FHOD1 UCSF GRCh37 16 67265109 67265109 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 28 69 0 ENST00000258201.4:c.2649C>T p.Ala883= p.A883= ENST00000258201 NM_013241.2 883 gcC/gcT 0 -FIBCD1 UCSF GRCh37 9 133799169 133799169 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 34 30 62 0 ENST00000372338.4:c.811G>A p.Val271Met p.V271M ENST00000372338 NM_032843.4 271 Gtg/Atg 0 -FICD UCSF GRCh37 12 108912289 108912289 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 64 166 0 ENST00000552695.1:c.414C>T p.Asp138= p.D138= ENST00000552695 NM_007076.2 138 gaC/gaT 0 -FIGF UCSF GRCh37 X 15365310 15365310 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 17 129 157 0 ENST00000297904.3:c.914A>G p.Lys305Arg p.K305R ENST00000297904 NM_004469.4 305 aAg/aGg 0 -FIGF UCSF GRCh37 X 15376203 15376203 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 25 139 150 0 ENST00000297904.3:c.414C>T p.Asn138= p.N138= ENST00000297904 NM_004469.4 138 aaC/aaT 0 -FIGNL1 UCSF GRCh37 7 50513387 50513387 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 163 142 226 0 ENST00000419119.1:c.1599A>G p.Thr533= p.T533= ENST00000419119 533 acA/acG 0 -FITM2 UCSF GRCh37 20 42935488 42935488 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 50 109 0 ENST00000396825.3:c.566C>T p.Thr189Ile p.T189I ENST00000396825 NM_001080472.1 189 aCc/aTc 0 -FLG UCSF GRCh37 1 152276776 152276776 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 201 144 319 0 ENST00000368799.1:c.10586C>T p.Pro3529Leu p.P3529L ENST00000368799 NM_002016.1 3529 cCc/cTc 0 -FLJ43860 UCSF GRCh37 8 142517203 142517203 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 9 49 0 ENST00000430863.1:c.47G>A p.Gly16Asp p.G16D ENST00000430863 NM_207414.2 16 gGt/gAt 0 -FLNA UCSF GRCh37 X 153585643 153585643 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 3 33 32 0 ENST00000369850.3:c.4946-1G>A p.X1649_splice ENST00000369850 NM_001110556.1 0 -FLNB UCSF GRCh37 3 58135716 58135716 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Rec Untested WXS Illumina HiSeq 159 106 247 0 ENST00000490882.1:c.6324C>G p.Asp2108Glu p.D2108E ENST00000490882 NM_001164317.1 2108 gaC/gaG 0 -FLNB UCSF GRCh37 3 58067382 58067382 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 129 90 175 0 ENST00000490882.1:c.666C>T p.His222= p.H222= ENST00000490882 NM_001164317.1 222 caC/caT 0 -FLNC UCSF GRCh37 7 128485171 128485171 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 37 94 0 ENST00000325888.8:c.3652C>T p.Pro1218Ser p.P1218S ENST00000325888 NM_001458.4 1218 Cct/Tct 0 -FLT3LG UCSF GRCh37 19 49983734 49983734 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 15 24 0 ENST00000594009.1:c.660+1G>A p.X220_splice ENST00000594009 NM_001204503.1 0 -FLT4 UCSF GRCh37 5 180057073 180057073 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 34 21 62 0 ENST00000261937.6:c.546G>A p.Glu182= p.E182= ENST00000261937 NM_182925.4 182 gaG/gaA 0 -FLVCR1 UCSF GRCh37 1 213062556 213062556 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 82 136 0 ENST00000366971.4:c.1482C>T p.Asn494= p.N494= ENST00000366971 NM_014053.3 494 aaC/aaT 0 -FMO4 UCSF GRCh37 1 171310886 171310886 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 39 88 0 ENST00000367749.3:c.1585C>T p.Leu529Phe p.L529F ENST00000367749 NM_002022.1 529 Ctt/Ttt 0 -FMO5 UCSF GRCh37 1 146687361 146687361 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 74 198 0 ENST00000254090.4:c.287C>T p.Ala96Val p.A96V ENST00000254090 NM_001461.3 96 gCc/gTc 0 -FN1 UCSF GRCh37 2 216296570 216296570 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 137 112 218 0 ENST00000354785.4:c.533C>T p.Thr178Ile p.T178I ENST00000354785 178 aCc/aTc 0 -FNDC1 UCSF GRCh37 6 159642672 159642672 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 69 178 0 ENST00000297267.9:c.710C>T p.Ser237Phe p.S237F ENST00000297267 NM_032532.2 237 tCt/tTt 0 -FNDC1 UCSF GRCh37 6 159653946 159653946 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 45 115 0 ENST00000297267.9:c.2402C>T p.Ala801Val p.A801V ENST00000297267 NM_032532.2 801 gCg/gTg 0 -FOXA2 UCSF GRCh37 20 22564892 22564892 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 20 44 0 ENST00000419308.2:c.25G>A p.Gly9Arg p.G9R ENST00000419308 NM_021784.4 9 Gga/Aga 0 -FOXA2 UCSF GRCh37 20 22563629 22563629 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 19 63 0 ENST00000419308.2:c.251C>T p.Ala84Val p.A84V ENST00000419308 NM_021784.4 84 gCg/gTg 0 -FOXJ2 UCSF GRCh37 12 8203198 8203198 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 59 152 0 ENST00000162391.3:c.1618G>A p.Ala540Thr p.A540T ENST00000162391 NM_018416.2 540 Gca/Aca 0 -FREM1 UCSF GRCh37 9 14824818 14824818 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 81 190 0 ENST00000422223.2:c.2054C>T p.Pro685Leu p.P685L ENST00000422223 NM_144966.5 685 cCt/cTt 0 -FREM2 UCSF GRCh37 13 39264884 39264884 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 79 194 0 ENST00000280481.7:c.3403G>A p.Ala1135Thr p.A1135T ENST00000280481 NM_207361.4 1135 Gct/Act 0 -FRG2 UCSF GRCh37 4 190946914 190946914 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 62 207 0 ENST00000378763.1:c.639C>T p.Leu213= p.L213= ENST00000378763 NM_001005217.1 213 ctC/ctT 0 -FRMD4B UCSF GRCh37 3 69336917 69336917 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 52 81 0 ENST00000398540.3:c.487G>A p.Ala163Thr p.A163T ENST00000398540 NM_015123.1 163 Gcc/Acc 0 -FRMD5 UCSF GRCh37 15 44180383 44180383 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 49 112 0 ENST00000417257.1:c.874G>A p.Ala292Thr p.A292T ENST00000417257 NM_032892.3 292 Gcc/Acc 0 -FRYL UCSF GRCh37 4 48514613 48514613 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 111 74 179 0 ENST00000358350.4:c.8030C>T p.Pro2677Leu p.P2677L ENST00000358350 NM_015030.1 2677 cCc/cTc 0 -FSCB UCSF GRCh37 14 44974174 44974174 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 18 88 0 ENST00000340446.4:c.2017C>T p.Pro673Ser p.P673S ENST00000340446 NM_032135.3 673 Cca/Tca 0 -FSIP2 UCSF GRCh37 2 186665922 186665922 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 153 103 252 0 ENST00000343098.5:c.12156G>A p.Gln4052= p.Q4052= ENST00000343098 NM_173651.2 4052 caG/caA 0 -FTCD UCSF GRCh37 21 47575416 47575416 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 60 29 69 0 ENST00000291670.5:c.22G>A p.Val8Ile p.V8I ENST00000291670 NM_006657.2 8 Gtc/Atc 0 -FTSJD1 UCSF GRCh37 16 71318179 71318179 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 47 122 0 ENST00000338099.5:c.1645G>A p.Val549Ile p.V549I ENST00000338099 549 Gtt/Att 0 -FTSJD1 UCSF GRCh37 16 71318132 71318132 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 81 45 132 0 ENST00000338099.5:c.1692G>A p.Glu564= p.E564= ENST00000338099 564 gaG/gaA 0 -FUBP3 UCSF GRCh37 9 133506129 133506129 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 50 91 0 ENST00000319725.9:c.1232C>T p.Pro411Leu p.P411L ENST00000319725 NM_003934.1 411 cCc/cTc 0 -FZD6 UCSF GRCh37 8 104337348 104337348 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 177 137 246 0 ENST00000358755.4:c.1014G>A p.Leu338= p.L338= ENST00000358755 NM_001164616.1 338 ctG/ctA 0 -FZD8 UCSF GRCh37 10 35928730 35928730 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 14 77 0 ENST00000374694.1:c.1628C>T p.Pro543Leu p.P543L ENST00000374694 NM_031866.2 543 cCc/cTc 0 -FZD9 UCSF GRCh37 7 72849769 72849769 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 57 39 95 0 ENST00000344575.3:c.1432C>T p.Leu478Phe p.L478F ENST00000344575 NM_003508.2 478 Ctt/Ttt 0 -G2E3 UCSF GRCh37 14 31061611 31061611 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 80 117 0 ENST00000206595.6:c.320G>A p.Gly107Glu p.G107E ENST00000206595 NM_017769.3 107 gGa/gAa 0 -G3BP1 UCSF GRCh37 5 151176891 151176891 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 61 148 0 ENST00000394123.3:c.643C>T p.Pro215Ser p.P215S ENST00000394123 215 Cct/Tct 0 -G3BP1 UCSF GRCh37 5 151176792 151176792 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 54 79 0 ENST00000394123.3:c.544G>A p.Asp182Asn p.D182N ENST00000394123 182 Gac/Aac 0 -GABARAP UCSF GRCh37 17 7144983 7144983 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 101 89 185 0 ENST00000302386.5:c.106G>A p.Ala36Thr p.A36T ENST00000302386 NM_007278.1 36 Gct/Act 0 -GABBR2 UCSF GRCh37 9 101304178 101304178 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 47 120 0 ENST00000259455.2:c.607C>T p.Gln203Ter p.Q203* ENST00000259455 NM_005458.7 203 Caa/Taa 0 -GABPA UCSF GRCh37 21 27136631 27136631 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 62 183 0 ENST00000354828.3:c.913G>A p.Glu305Lys p.E305K ENST00000354828 NM_001197297.1 305 Gaa/Aaa 0 -GABRA4 UCSF GRCh37 4 46930490 46930490 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 134 98 266 1 ENST00000264318.3:c.1417G>A p.Ala473Thr p.A473T ENST00000264318 NM_000809.3 473 Gct/Act 0 -GABRB1 UCSF GRCh37 4 47163377 47163377 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 170 144 306 0 ENST00000295454.3:c.352G>A p.Val118Ile p.V118I ENST00000295454 NM_000812.3 118 Gta/Ata 0 -GABRB3 UCSF GRCh37 15 26812804 26812804 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 58 160 0 ENST00000311550.5:c.759C>T p.Pro253= p.P253= ENST00000311550 NM_000814.5 253 ccC/ccT 0 -GABRR3 UCSF GRCh37 3 97720581 97720581 + non_coding_transcript_exon_variant RNA SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 87 63 130 0 ENST00000470589.1:n.532T>C *178* ENST00000470589 0 -GAL3ST2 UCSF GRCh37 2 242743054 242743054 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 7 15 0 ENST00000192314.6:c.670G>A p.Val224Met p.V224M ENST00000192314 NM_022134.2 224 Gtg/Atg 0 -GALNT1 UCSF GRCh37 18 33271053 33271053 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 177 145 263 0 ENST00000269195.5:c.1056C>T p.Tyr352= p.Y352= ENST00000269195 NM_020474.3 352 taC/taT 0 -GALNT4 UCSF GRCh37 12 89917070 89917070 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 114 216 0 ENST00000529983.2:c.1257G>A p.Leu419= p.L419= ENST00000529983 NM_003774.4 419 ttG/ttA 0 -GALNT5 UCSF GRCh37 2 158115847 158115847 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 77 212 0 ENST00000259056.4:c.1253G>A p.Ser418Asn p.S418N ENST00000259056 NM_014568.1 418 aGt/aAt 0 -GALNT7 UCSF GRCh37 4 174225262 174225262 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 60 147 0 ENST00000265000.4:c.1382C>T p.Thr461Ile p.T461I ENST00000265000 NM_017423.2 461 aCt/aTt 0 -GAPDHS UCSF GRCh37 19 36034723 36034723 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 37 29 65 0 ENST00000222286.4:c.1050G>A p.Glu350= p.E350= ENST00000222286 NM_014364.4 350 gaG/gaA 0 -GAPVD1 UCSF GRCh37 9 128099513 128099513 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 57 133 0 ENST00000394105.2:c.2601G>A p.Val867= p.V867= ENST00000394105 NM_015635.2 867 gtG/gtA 0 -GARNL3 UCSF GRCh37 9 130098462 130098462 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 51 137 0 ENST00000373387.4:c.929G>A p.Gly310Glu p.G310E ENST00000373387 NM_032293.4 310 gGa/gAa 0 -GARNL3 UCSF GRCh37 9 130149546 130149546 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 61 130 0 ENST00000373387.4:c.2463C>T p.Ala821= p.A821= ENST00000373387 NM_032293.4 821 gcC/gcT 0 -GAS6 UCSF GRCh37 13 114542772 114542772 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 55 129 0 ENST00000327773.6:c.395C>T p.Ala132Val p.A132V ENST00000327773 NM_000820.2 132 gCc/gTc 0 -GBP3 UCSF GRCh37 1 89476628 89476628 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 21 183 186 0 ENST00000370481.4:c.1321C>T p.Leu441= p.L441= ENST00000370481 NM_018284.2 441 Ctg/Ttg 0 -GDAP2 UCSF GRCh37 1 118420712 118420712 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 57 130 0 ENST00000369443.5:c.1365G>A p.Val455= p.V455= ENST00000369443 NM_017686.3 455 gtG/gtA 0 -GDF15 UCSF GRCh37 19 18499125 18499125 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 14 33 0 ENST00000252809.3:c.307C>T p.Leu103= p.L103= ENST00000252809 NM_004864.2 103 Ctg/Ttg 0 -GDF2 UCSF GRCh37 10 48416610 48416610 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 26 18 56 0 ENST00000249598.1:c.84G>A p.Trp28Ter p.W28* ENST00000249598 NM_016204.1 28 tgG/tgA 0 -GFM2 UCSF GRCh37 5 74034354 74034354 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 86 62 161 0 ENST00000296805.3:c.1193C>T p.Ala398Val p.A398V ENST00000296805 NM_032380.4 398 gCc/gTc 0 -GGA1 UCSF GRCh37 22 38028003 38028003 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 29 88 0 ENST00000343632.4:c.1529G>A p.Ser510Asn p.S510N ENST00000343632 NM_013365.4 510 aGc/aAc 0 -GGA3 UCSF GRCh37 17 73238537 73238537 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 143 112 232 0 ENST00000245541.6:c.627G>A p.Gln209= p.Q209= ENST00000245541 NM_138619.2 209 caG/caA 0 -GGCX UCSF GRCh37 2 85778691 85778691 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 111 77 185 0 ENST00000233838.4:c.1652C>T p.Thr551Ile p.T551I ENST00000233838 NM_000821.5 551 aCt/aTt 0 -GGCX UCSF GRCh37 2 85780478 85780478 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 83 184 0 ENST00000233838.4:c.1032G>A p.Val344= p.V344= ENST00000233838 NM_000821.5 344 gtG/gtA 0 -GHDC UCSF GRCh37 17 40344541 40344541 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 101 83 177 0 ENST00000301671.8:c.607G>A p.Ala203Thr p.A203T ENST00000301671 203 Gct/Act 0 -GHDC UCSF GRCh37 17 40342239 40342239 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 82 175 0 ENST00000301671.8:c.1338G>A p.Arg446= p.R446= ENST00000301671 446 agG/agA 0 -GIMAP8 UCSF GRCh37 7 150171727 150171727 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 58 132 0 ENST00000307271.3:c.1309+1G>A p.X437_splice ENST00000307271 NM_175571.2 0 -GIP UCSF GRCh37 17 47038273 47038273 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 10 21 0 ENST00000357424.2:c.427G>A p.Asp143Asn p.D143N ENST00000357424 NM_004123.2 143 Gat/Aat 0 -GIT2 UCSF GRCh37 12 110405292 110405292 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 63 136 0 ENST00000355312.3:c.735G>A p.Gln245= p.Q245= ENST00000355312 NM_057169.3 245 caG/caA 0 -GJA5 UCSF GRCh37 1 147230420 147230420 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 89 186 0 ENST00000271348.2:c.927G>A p.Gly309= p.G309= ENST00000271348 NM_005266.6 309 ggG/ggA 0 -GJB6 UCSF GRCh37 13 20796987 20796987 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 56 130 0 ENST00000356192.6:c.633C>T p.Cys211= p.C211= ENST00000356192 NM_001110219.2 211 tgC/tgT 0 -GLI2 UCSF GRCh37 2 121747119 121747119 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 15 31 0 ENST00000452319.1:c.3629G>A p.Gly1210Glu p.G1210E ENST00000452319 1210 gGa/gAa 0 -GLOD5 UCSF GRCh37 X 48631750 48631750 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 125 110 0 ENST00000303227.6:c.382G>A p.Gly128Arg p.G128R ENST00000303227 NM_001080489.2 128 Ggg/Agg 0 -GLS2 UCSF GRCh37 12 56866533 56866533 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 90 199 0 ENST00000311966.4:c.1452C>T p.Asn484= p.N484= ENST00000311966 NM_001280797.1 484 aaC/aaT 0 -GLT25D1 UCSF GRCh37 19 17691630 17691630 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 23 83 0 ENST00000252599.4:c.1517C>T p.Ala506Val p.A506V ENST00000252599 NM_024656.2 506 gCc/gTc 0 -GLT25D1 UCSF GRCh37 19 17688209 17688209 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 7 9 0 ENST00000252599.4:c.1066G>A p.Glu356Lys p.E356K ENST00000252599 NM_024656.2 356 Gag/Aag 0 -GLT6D1 UCSF GRCh37 9 138516249 138516249 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 59 119 0 ENST00000371763.1:c.525C>T p.Asn175= p.N175= ENST00000371763 NM_182974.2 175 aaC/aaT 0 -GNAI3 UCSF GRCh37 1 110116530 110116530 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 83 182 0 ENST00000369851.4:c.174G>A p.Glu58= p.E58= ENST00000369851 NM_006496.3 58 gaG/gaA 0 -GNB2 UCSF GRCh37 7 100275839 100275839 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 96 161 0 ENST00000303210.4:c.616G>A p.Ala206Thr p.A206T ENST00000303210 NM_005273.3 206 Gcc/Acc 0 -GNG2 UCSF GRCh37 14 52433376 52433376 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 145 94 216 0 ENST00000335281.4:c.187G>A p.Glu63Lys p.E63K ENST00000335281 NM_001243774.1 63 Gag/Aag 0 -GNL1 UCSF GRCh37 6 30514932 30514932 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 50 124 0 ENST00000376621.3:c.1398C>T p.Asp466= p.D466= ENST00000376621 NM_005275.3 466 gaC/gaT 0 -GNL3L UCSF GRCh37 X 54570681 54570681 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 4 19 33 0 ENST00000336470.4:c.552G>A p.Glu184= p.E184= ENST00000336470 NM_019067.5 184 gaG/gaA 0 -GNPAT UCSF GRCh37 1 231386751 231386751 + synonymous_variant Silent SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 119 97 178 0 ENST00000366647.4:c.123G>A p.Glu41= p.E41= ENST00000366647 NM_014236.3 41 gaG/gaA 0 -GON4L UCSF GRCh37 1 155735038 155735038 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 151 121 263 0 ENST00000437809.1:c.4226G>A p.Gly1409Glu p.G1409E ENST00000437809 1409 gGa/gAa 0 -GOT1L1 UCSF GRCh37 8 37796328 37796328 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 86 192 0 ENST00000307599.4:c.187G>A p.Asp63Asn p.D63N ENST00000307599 NM_152413.2 63 Gat/Aat 0 -GP1BA UCSF GRCh37 17 4836177 4836177 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 95 187 0 ENST00000329125.5:c.278C>T p.Pro93Leu p.P93L ENST00000329125 NM_000173.5 93 cCa/cTa 0 -GPAA1 UCSF GRCh37 8 145138941 145138941 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 70 104 0 ENST00000355091.4:c.614C>T p.Thr205Ile p.T205I ENST00000355091 NM_003801.3 205 aCt/aTt 0 -GPATCH1 UCSF GRCh37 19 33608917 33608917 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 56 128 0 ENST00000170564.2:c.2383G>A p.Asp795Asn p.D795N ENST00000170564 NM_018025.2 795 Gac/Aac 0 -GPATCH3 UCSF GRCh37 1 27217646 27217646 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 51 43 79 0 ENST00000361720.5:c.1433C>T p.Ser478Phe p.S478F ENST00000361720 NM_022078.2 478 tCc/tTc 0 -GPC5 UCSF GRCh37 13 92345775 92345775 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 34 113 0 ENST00000377067.3:c.660G>A p.Leu220= p.L220= ENST00000377067 NM_004466.4 220 ctG/ctA 0 -GPR108 UCSF GRCh37 19 6734315 6734315 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 15 36 0 ENST00000264080.7:c.378C>T p.Val126= p.V126= ENST00000264080 NM_001080452.1 126 gtC/gtT 0 -GPR112 UCSF GRCh37 X 135432197 135432197 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 106 112 0 ENST00000394143.1:c.6332C>T p.Thr2111Ile p.T2111I ENST00000394143 NM_153834.3 2111 aCc/aTc 0 -GPR113 UCSF GRCh37 2 26534502 26534502 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 73 101 0 ENST00000311519.1:c.2094C>T p.Ser698= p.S698= ENST00000311519 NM_001145168.1 698 agC/agT 0 -GPR116 UCSF GRCh37 6 46839599 46839599 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 126 99 197 0 ENST00000283296.7:c.1392A>G p.Lys464= p.K464= ENST00000283296 NM_001098518.1 464 aaA/aaG 0 -GPR125 UCSF GRCh37 4 22446699 22446699 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 45 117 0 ENST00000334304.5:c.603G>A p.Trp201Ter p.W201* ENST00000334304 NM_145290.3 201 tgG/tgA 0 -GPR158 UCSF GRCh37 10 25701324 25701324 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 338 108 265 0 ENST00000376351.3:c.1257C>T p.Ala419= p.A419= ENST00000376351 NM_020752.2 419 gcC/gcT 0 -GPR179 UCSF GRCh37 17 36499172 36499172 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 62 143 0 ENST00000342292.4:c.501C>T p.Thr167= p.T167= ENST00000342292 NM_001004334.2 167 acC/acT 0 -GPR26 UCSF GRCh37 10 125426578 125426578 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Rec Untested WXS Illumina HiSeq 14 9 31 0 ENST00000284674.1:c.655G>T p.Asp219Tyr p.D219Y ENST00000284674 NM_153442.3 219 Gac/Tac 0 -GPR32 UCSF GRCh37 19 51274536 51274536 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 86 54 120 0 ENST00000270590.4:c.679G>A p.Gly227Arg p.G227R ENST00000270590 NM_001506.2 227 Ggg/Agg 0 -GPR35 UCSF GRCh37 2 241569429 241569429 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 43 96 0 ENST00000438013.2:c.153G>A p.Lys51= p.K51= ENST00000438013 51 aaG/aaA 0 -GPR37 UCSF GRCh37 7 124404799 124404799 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 26 51 0 ENST00000303921.2:c.232G>A p.Ala78Thr p.A78T ENST00000303921 NM_005302.3 78 Gca/Aca 0 -GPR56 UCSF GRCh37 16 57687213 57687213 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 23 17 41 0 ENST00000388812.4:c.586G>A p.Ala196Thr p.A196T ENST00000388812 196 Gcc/Acc 0 -GPR56 UCSF GRCh37 16 57693441 57693441 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 48 110 0 ENST00000388812.4:c.1421G>A p.Gly474Asp p.G474D ENST00000388812 474 gGc/gAc 0 -GPR64 UCSF GRCh37 X 19028836 19028836 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 115 132 0 ENST00000379869.3:c.1160C>T p.Ala387Val p.A387V ENST00000379869 NM_001079858.2 387 gCt/gTt 0 -GPR82 UCSF GRCh37 X 41586742 41586742 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 96 97 0 ENST00000302548.4:c.463C>T p.Leu155= p.L155= ENST00000302548 NM_080817.4 155 Cta/Tta 0 -GPR98 UCSF GRCh37 5 90083954 90083954 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 140 94 198 0 ENST00000405460.2:c.13720G>A p.Asp4574Asn p.D4574N ENST00000405460 NM_032119.3 4574 Gac/Aac 0 -GPRIN1 UCSF GRCh37 5 176025149 176025149 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 90 193 0 ENST00000303991.4:c.1687C>T p.Pro563Ser p.P563S ENST00000303991 NM_052899.2 563 Ccc/Tcc 0 -GPS1 UCSF GRCh37 17 80010317 80010317 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 19 34 0 ENST00000392358.2:c.135C>T p.Ala45= p.A45= ENST00000392358 NM_212492.1 45 gcC/gcT 0 -GPSM1 UCSF GRCh37 9 139252516 139252516 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 19 51 0 ENST00000440944.1:c.1872G>A p.Arg624= p.R624= ENST00000440944 NM_001145638.2 624 cgG/cgA 0 -GPX3 UCSF GRCh37 5 150407620 150407620 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 23 72 0 ENST00000388825.4:c.610G>A p.Val204Ile p.V204I ENST00000388825 NM_002084.3 204 Gtc/Atc 0 -GPX8 UCSF GRCh37 5 54456129 54456129 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 150 81 189 0 ENST00000503787.1:c.109C>T p.Leu37= p.L37= ENST00000503787 NM_001008397.2 37 Cta/Tta 0 -GREB1L UCSF GRCh37 18 18983857 18983857 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 175 141 316 0 ENST00000580732.2:c.734C>T p.Ala245Val p.A245V ENST00000580732 245 gCt/gTt 0 -GREB1L UCSF GRCh37 18 19080545 19080545 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 19 42 0 ENST00000580732.2:c.4014C>T p.Phe1338= p.F1338= ENST00000580732 1338 ttC/ttT 0 -GRID1 UCSF GRCh37 10 87966175 87966175 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 44 99 0 ENST00000327946.7:c.466C>T p.Leu156= p.L156= ENST00000327946 NM_017551.2 156 Ctg/Ttg 0 -GRIK5 UCSF GRCh37 19 42558519 42558519 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 35 82 0 ENST00000262895.3:c.1009G>A p.Ala337Thr p.A337T ENST00000262895 NM_002088.4 337 Gcc/Acc 0 -GRIN2A UCSF GRCh37 16 9858036 9858036 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 231 95 200 0 ENST00000330684.3:c.3365G>A p.Gly1122Asp p.G1122D ENST00000330684 NM_001134407.1 1122 gGt/gAt 0 -GRIN2A UCSF GRCh37 16 9923338 9923338 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 206 80 173 0 ENST00000330684.3:c.1949C>T p.Ala650Val p.A650V ENST00000330684 NM_001134407.1 650 gCt/gTt 0 -GRIN2C UCSF GRCh37 17 72848181 72848181 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 10 16 0 ENST00000293190.5:c.969C>T p.Pro323= p.P323= ENST00000293190 NM_000835.4 323 ccC/ccT 0 -GRIN3A UCSF GRCh37 9 104499668 104499668 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 43 123 0 ENST00000361820.3:c.594C>T p.Ala198= p.A198= ENST00000361820 NM_133445.2 198 gcC/gcT 0 -GRK6 UCSF GRCh37 5 176862108 176862108 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 19 54 0 ENST00000528793.1:c.1043C>T p.Thr348Ile p.T348I ENST00000528793 348 aCc/aTc 0 -GRK7 UCSF GRCh37 3 141497563 141497563 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 49 104 0 ENST00000264952.2:c.437C>T p.Ala146Val p.A146V ENST00000264952 NM_139209.2 146 gCa/gTa 0 -GSDMD UCSF GRCh37 8 144642028 144642028 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 23 56 0 ENST00000526406.1:c.299G>A p.Gly100Glu p.G100E ENST00000526406 NM_001166237.1 100 gGa/gAa 0 -GTDC1 UCSF GRCh37 2 144714815 144714815 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 63 153 0 ENST00000392869.2:c.1077C>T p.Cys359= p.C359= ENST00000392869 NM_001284234.1 359 tgC/tgT 0 -GTF2B UCSF GRCh37 1 89353037 89353037 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 171 129 260 0 ENST00000370500.5:c.31C>T p.Pro11Ser p.P11S ENST00000370500 NM_001514.5 11 Cca/Tca 0 -GTF2E2 UCSF GRCh37 8 30437797 30437797 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 183 125 284 0 ENST00000355904.4:c.759+1G>A p.X253_splice ENST00000355904 NM_002095.4 0 -GTF2F1 UCSF GRCh37 19 6380678 6380678 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 43 90 0 ENST00000394456.5:c.1255G>A p.Ala419Thr p.A419T ENST00000394456 NM_002096.2 419 Gca/Aca 0 -GTF2IRD1 UCSF GRCh37 7 73973225 73973225 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 42 95 0 ENST00000455841.2:c.2238C>T p.Val746= p.V746= ENST00000455841 NM_001199207.1 746 gtC/gtT 0 -GTF3C2 UCSF GRCh37 2 27551736 27551736 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 54 93 0 ENST00000359541.2:c.2102C>T p.Thr701Ile p.T701I ENST00000359541 701 aCt/aTt 0 -GYG1 UCSF GRCh37 3 148744574 148744574 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 61 152 0 ENST00000345003.4:c.907C>T p.Leu303= p.L303= ENST00000345003 NM_004130.3 303 Ctg/Ttg 0 -GYS1 UCSF GRCh37 19 49494637 49494637 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 93 159 0 ENST00000323798.3:c.222G>A p.Arg74= p.R74= ENST00000323798 NM_002103.4 74 agG/agA 0 -GZMA UCSF GRCh37 5 54404196 54404196 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 69 165 0 ENST00000274306.6:c.601C>T p.Leu201Phe p.L201F ENST00000274306 NM_006144.3 201 Ctc/Ttc 0 -GZMH UCSF GRCh37 14 25076612 25076612 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 26 71 0 ENST00000216338.4:c.340C>T p.Leu114= p.L114= ENST00000216338 NM_033423.4 114 Ctg/Ttg 0 -HAS1 UCSF GRCh37 19 52217087 52217087 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 13 30 0 ENST00000222115.1:c.1330G>A p.Ala444Thr p.A444T ENST00000222115 NM_001523.2 444 Gcc/Acc 0 -HAT1 UCSF GRCh37 2 172803277 172803277 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 74 158 0 ENST00000264108.4:c.162G>A p.Glu54= p.E54= ENST00000264108 NM_003642.3 54 gaG/gaA 0 -HBQ1 UCSF GRCh37 16 230818 230818 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 7 12 0 ENST00000199708.2:c.249G>A p.Ala83= p.A83= ENST00000199708 NM_005331.4 83 gcG/gcA 0 -HCK UCSF GRCh37 20 30674508 30674508 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 31 72 0 ENST00000375852.2:c.913G>A p.Glu305Lys p.E305K ENST00000375852 305 Gag/Aag 0 -HCN4 UCSF GRCh37 15 73617356 73617356 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 64 111 0 ENST00000261917.3:c.1918G>A p.Val640Ile p.V640I ENST00000261917 NM_005477.2 640 Gtc/Atc 0 -HCRTR1 UCSF GRCh37 1 32087185 32087185 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 65 160 0 ENST00000403528.2:c.730G>A p.Gly244Ser p.G244S ENST00000403528 NM_001525.2 244 Ggc/Agc 0 -HDAC3 UCSF GRCh37 5 141004869 141004869 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 207 138 295 0 ENST00000305264.3:c.1123G>A p.Val375Ile p.V375I ENST00000305264 NM_003883.3 375 Gtc/Atc 0 -HDGFL2 UCSF GRCh37 19 4499544 4499544 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 19 53 0 ENST00000301284.4:c.1632C>T p.Thr544= p.T544= ENST00000301284 NM_001001520.1 544 acC/acT 0 -HEATR1 UCSF GRCh37 1 236744649 236744649 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 196 124 244 0 ENST00000366582.3:c.2628C>T p.Ser876= p.S876= ENST00000366582 NM_018072.5 876 agC/agT 0 -HEATR5B UCSF GRCh37 2 37235830 37235830 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 95 201 0 ENST00000233099.5:c.4446C>T p.Arg1482= p.R1482= ENST00000233099 NM_019024.1 1482 cgC/cgT 0 -HEATR8 UCSF GRCh37 1 55145099 55145099 + missense_variant,NMD_transcript_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 32 23 73 0 ENST00000414150.2:c.2213G>A p.Arg738Lys p.R738K ENST00000414150 738 aGg/aAg 0 -HEG1 UCSF GRCh37 3 124731715 124731715 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 161 130 305 0 ENST00000311127.4:c.2708G>A p.Arg903Lys p.R903K ENST00000311127 NM_020733.1 903 aGg/aAg 0 -HEG1 UCSF GRCh37 3 124746251 124746251 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 131 73 162 0 ENST00000311127.4:c.711G>A p.Glu237= p.E237= ENST00000311127 NM_020733.1 237 gaG/gaA 0 -HEG1 UCSF GRCh37 3 124692647 124692647 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 185 158 283 0 ENST00000311127.4:c.3924C>T p.Gly1308= p.G1308= ENST00000311127 NM_020733.1 1308 ggC/ggT 0 -HELZ UCSF GRCh37 17 65144795 65144795 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 186 106 290 0 ENST00000358691.5:c.2511G>A p.Glu837= p.E837= ENST00000358691 NM_014877.3 837 gaG/gaA 0 -HEMGN UCSF GRCh37 9 100693034 100693034 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 200 191 371 0 ENST00000259456.3:c.643C>T p.Pro215Ser p.P215S ENST00000259456 NM_018437.4 215 Cct/Tct 0 -HEMGN UCSF GRCh37 9 100692353 100692353 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 144 124 229 0 ENST00000259456.3:c.1324C>T p.Gln442Ter p.Q442* ENST00000259456 NM_018437.4 442 Cag/Tag 0 -HEPACAM UCSF GRCh37 11 124793894 124793894 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 18 40 0 ENST00000298251.4:c.440G>A p.Arg147Lys p.R147K ENST00000298251 NM_152722.4 147 aGg/aAg 0 -HERC2 UCSF GRCh37 15 28412840 28412840 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 103 203 0 ENST00000261609.7:c.10547C>T p.Thr3516Ile p.T3516I ENST00000261609 NM_004667.5 3516 aCc/aTc 0 -HERC2 UCSF GRCh37 15 28518093 28518093 + synonymous_variant Silent SNP C C T snp132_rs59154112 P18_Rec Untested WXS Illumina HiSeq 73 32 83 0 ENST00000261609.7:c.858G>A p.Gln286= p.Q286= ENST00000261609 NM_004667.5 286 caG/caA 0 -HERC2 UCSF GRCh37 15 28482229 28482229 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 94 284 0 ENST00000261609.7:c.3883C>T p.Leu1295= p.L1295= ENST00000261609 NM_004667.5 1295 Ctg/Ttg 0 -HESX1 UCSF GRCh37 3 57232851 57232851 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 287 188 402 0 ENST00000295934.3:c.287G>A p.Arg96Lys p.R96K ENST00000295934 NM_003865.2 96 aGa/aAa 0 -HFM1 UCSF GRCh37 1 91788756 91788756 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 96 242 0 ENST00000370425.3:c.2428G>A p.Val810Ile p.V810I ENST00000370425 NM_001017975.3 810 Gtt/Att 0 -HGF UCSF GRCh37 7 81374400 81374400 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 54 135 0 ENST00000222390.5:c.662G>A p.Gly221Asp p.G221D ENST00000222390 NM_000601.4 221 gGt/gAt 0 -HHIP UCSF GRCh37 4 145659036 145659036 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 121 232 0 ENST00000296575.3:c.2030C>T p.Thr677Ile p.T677I ENST00000296575 NM_022475.2 677 aCc/aTc 0 -HIATL1 UCSF GRCh37 9 97221478 97221478 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 86 176 0 ENST00000375344.3:c.1305G>A p.Gly435= p.G435= ENST00000375344 NM_032558.2 435 ggG/ggA 0 -HIPK2 UCSF GRCh37 7 139257685 139257685 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 14 25 0 ENST00000406875.3:c.3585C>T p.Tyr1195= p.Y1195= ENST00000406875 NM_022740.4 1195 taC/taT 0 -HIVEP1 UCSF GRCh37 6 12122847 12122847 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Rec Untested WXS Illumina HiSeq 53 40 112 0 ENST00000379388.2:c.2819T>A p.Leu940Gln p.L940Q ENST00000379388 NM_002114.2 940 cTg/cAg 0 -HIVEP3 UCSF GRCh37 1 42049788 42049788 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 55 119 0 ENST00000372583.1:c.681C>T p.Phe227= p.F227= ENST00000372583 NM_024503.4 227 ttC/ttT 0 -HKDC1 UCSF GRCh37 10 71018671 71018671 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 58 44 95 0 ENST00000354624.5:c.2172C>T p.Tyr724= p.Y724= ENST00000354624 NM_025130.3 724 taC/taT 0 -HLA-C UCSF GRCh37 6 31238956 31238956 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 10 94 0 ENST00000376228.5:c.513G>A p.Leu171= p.L171= ENST00000376228 NM_002117.5 171 ttG/ttA 0 -HLA-DQA1 UCSF GRCh37 6 32609823 32609823 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 18 38 52 0 ENST00000343139.5:c.406G>A p.Asp136Asn p.D136N ENST00000343139 NM_002122.3 136 Gac/Aac 0 -HLA-DQA2 UCSF GRCh37 6 32713642 32713642 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 276 45 352 0 ENST00000374940.3:c.406G>A p.Asp136Asn p.D136N ENST00000374940 NM_020056.4 136 Gac/Aac 0 -HLA-DRA UCSF GRCh37 6 32411128 32411128 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 111 207 0 ENST00000395388.2:c.495G>A p.Arg165= p.R165= ENST00000395388 NM_019111.4 165 agG/agA 0 -HLA-DRB5 UCSF GRCh37 6 32489786 32489786 + missense_variant Missense_Mutation SNP T T G 1000g2010nov_all_0.101,1000g2011may_all_0.1594,snp132_rs41541218 P18_Rec Untested WXS Illumina HiSeq 44 8 58 1 ENST00000374975.3:c.266A>C p.Tyr89Ser p.Y89S ENST00000374975 NM_002125.3 89 tAc/tCc 0 -HLA-DRB5 UCSF GRCh37 6 32489806 32489806 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.029,snp132_rs1059349 P18_Rec Untested WXS Illumina HiSeq 56 8 64 1 ENST00000374975.3:c.246G>A p.Leu82= p.L82= ENST00000374975 NM_002125.3 82 ctG/ctA 0 -HMCN1 UCSF GRCh37 1 186026477 186026477 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 86 204 0 ENST00000271588.4:c.7256C>T p.Thr2419Ile p.T2419I ENST00000271588 NM_031935.2 2419 aCc/aTc 0 -HMCN1 UCSF GRCh37 1 186136014 186136014 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 68 149 0 ENST00000271588.4:c.15514C>T p.Arg5172Cys p.R5172C ENST00000271588 NM_031935.2 5172 Cgc/Tgc 0 -HMCN1 UCSF GRCh37 1 186084079 186084079 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 167 139 266 0 ENST00000271588.4:c.11404+1G>A p.X3802_splice ENST00000271588 NM_031935.2 0 -HMGB1 UCSF GRCh37 13 31036689 31036689 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 218 118 345 0 ENST00000405805.1:c.457G>A p.Glu153Lys p.E153K ENST00000405805 153 Gaa/Aaa 0 -HMX2 UCSF GRCh37 10 124909357 124909357 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 26 43 0 ENST00000339992.3:c.540C>T p.Ala180= p.A180= ENST00000339992 NM_005519.1 180 gcC/gcT 0 -HN1L UCSF GRCh37 16 1741846 1741846 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 88 84 0 ENST00000248098.3:c.196G>A p.Gly66Ser p.G66S ENST00000248098 NM_144570.2 66 Ggt/Agt 0 -HNF1A UCSF GRCh37 12 121432194 121432194 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Rec Untested WXS Illumina HiSeq 10 12 23 0 ENST00000257555.6:c.941C>G p.Pro314Arg p.P314R ENST00000257555 314 cCc/cGc 0 -HNRNPC UCSF GRCh37 14 21699190 21699190 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 155 113 237 0 ENST00000320084.7:c.283G>A p.Ala95Thr p.A95T ENST00000320084 NM_001077442.1 95 Gca/Aca 0 -HNRNPR UCSF GRCh37 1 23640128 23640128 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 65 180 0 ENST00000374616.3:c.1094C>T p.Ser365Phe p.S365F ENST00000374616 365 tCt/tTt 0 -HNRNPR UCSF GRCh37 1 23664278 23664278 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 150 83 182 0 ENST00000374616.3:c.353C>T p.Ser118Phe p.S118F ENST00000374616 118 tCc/tTc 0 -HNRNPU UCSF GRCh37 1 245021312 245021312 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 57 52 100 0 ENST00000283179.9:c.1494+1G>A p.X498_splice ENST00000283179 0 -HOMER1 UCSF GRCh37 5 78746835 78746835 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 60 140 0 ENST00000334082.6:c.272C>T p.Ser91Phe p.S91F ENST00000334082 NM_004272.4 91 tCc/tTc 0 -HOXA11 UCSF GRCh37 7 27224621 27224621 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 51 134 0 ENST00000006015.3:c.143C>T p.Ser48Phe p.S48F ENST00000006015 NM_005523.5 48 tCc/tTc 0 -HOXA3 UCSF GRCh37 7 27147692 27147692 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 35 81 0 ENST00000396352.4:c.1174G>A p.Ala392Thr p.A392T ENST00000396352 NM_030661.4 392 Gcc/Acc 0 -HOXD3 UCSF GRCh37 2 177036434 177036434 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 75 45 146 0 ENST00000468418.3:c.731A>G p.Asn244Ser p.N244S ENST00000468418 244 aAc/aGc 0 -HOXD9 UCSF GRCh37 2 176988780 176988780 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 148 98 224 0 ENST00000249499.6:c.936G>A p.Arg312= p.R312= ENST00000249499 NM_014213.3 312 cgG/cgA 0 -HP1BP3 UCSF GRCh37 1 21097494 21097494 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 82 134 0 ENST00000312239.5:c.583G>A p.Glu195Lys p.E195K ENST00000312239 NM_016287.3 195 Gag/Aag 0 -HPD UCSF GRCh37 12 122281701 122281701 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 68 124 0 ENST00000289004.4:c.869C>T p.Ser290Phe p.S290F ENST00000289004 NM_002150.2 290 tCt/tTt 0 -HPN UCSF GRCh37 19 35556509 35556509 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 60 108 0 ENST00000262626.2:c.974C>T p.Ala325Val p.A325V ENST00000262626 NM_182983.2 325 gCt/gTt 0 -HS3ST5 UCSF GRCh37 6 114378655 114378655 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 61 143 0 ENST00000312719.5:c.807G>A p.Val269= p.V269= ENST00000312719 269 gtG/gtA 0 -HS6ST1 UCSF GRCh37 2 129026197 129026197 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 22 94 0 ENST00000259241.6:c.775C>T p.Leu259= p.L259= ENST00000259241 NM_004807.2 259 Ctg/Ttg 0 -HSD17B1 UCSF GRCh37 17 40706695 40706695 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 27 24 47 0 ENST00000585807.1:c.726C>T p.Leu242= p.L242= ENST00000585807 NM_000413.2 242 ctC/ctT 0 -HSD3B1 UCSF GRCh37 1 120057019 120057019 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 108 210 0 ENST00000369413.3:c.873G>A p.Met291Ile p.M291I ENST00000369413 291 atG/atA 0 -HSDL2 UCSF GRCh37 9 115179137 115179137 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 63 50 106 0 ENST00000398805.3:c.412C>T p.Pro138Ser p.P138S ENST00000398805 NM_032303.4 138 Cct/Tct 0 -HSF4 UCSF GRCh37 16 67202963 67202963 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 28 82 0 ENST00000264009.8:c.1213C>T p.Arg405Ter p.R405* ENST00000264009 NM_001040667.2 405 Cga/Tga 0 -HSPA1A UCSF GRCh37 6 31785229 31785229 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 41 121 0 ENST00000375651.5:c.1696G>A p.Asp566Asn p.D566N ENST00000375651 NM_005345.5 566 Gac/Aac 0 -HSPA2 UCSF GRCh37 14 65008270 65008270 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 54 112 0 ENST00000247207.6:c.703G>A p.Asp235Asn p.D235N ENST00000247207 NM_021979.3 235 Gac/Aac 0 -HSPA6 UCSF GRCh37 1 161495582 161495582 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 19 93 0 ENST00000309758.4:c.1134G>A p.Gln378= p.Q378= ENST00000309758 NM_002155.3 378 caG/caA 0 -HSPBAP1 UCSF GRCh37 3 122459361 122459361 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 100 236 0 ENST00000306103.2:c.1298G>A p.Arg433Lys p.R433K ENST00000306103 NM_024610.5 433 aGa/aAa 0 -HSPG2 UCSF GRCh37 1 22217131 22217131 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 64 164 0 ENST00000374695.3:c.301G>A p.Glu101Lys p.E101K ENST00000374695 NM_005529.5 101 Gag/Aag 0 -HTR3D UCSF GRCh37 3 183754189 183754189 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Rec Untested WXS Illumina HiSeq 59 50 102 0 ENST00000382489.3:c.407T>A p.Met136Lys p.M136K ENST00000382489 NM_001163646.1 136 aTg/aAg 0 -HYDIN UCSF GRCh37 16 70929894 70929894 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 286 56 310 0 ENST00000393567.2:c.9138C>T p.Thr3046= p.T3046= ENST00000393567 NM_001270974.1 3046 acC/acT 0 -HYDIN UCSF GRCh37 16 71113831 71113831 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 152 27 159 0 ENST00000393567.2:c.1695C>T p.Phe565= p.F565= ENST00000393567 NM_001270974.1 565 ttC/ttT 0 -IARS2 UCSF GRCh37 1 220267700 220267700 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 10 33 0 ENST00000302637.5:c.142G>A p.Ala48Thr p.A48T ENST00000302637 NM_018060.3 48 Gcc/Acc 0 -IARS2 UCSF GRCh37 1 220315250 220315250 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 107 232 0 ENST00000302637.5:c.2520C>T p.His840= p.H840= ENST00000302637 NM_018060.3 840 caC/caT 0 -ICAM1 UCSF GRCh37 19 10395087 10395087 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 42 118 0 ENST00000264832.3:c.934G>A p.Ala312Thr p.A312T ENST00000264832 NM_000201.2 312 Gcg/Acg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 54 155 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IFIT1B UCSF GRCh37 10 91143734 91143734 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 207 179 342 0 ENST00000371809.3:c.664C>T p.Leu222Phe p.L222F ENST00000371809 NM_001010987.2 222 Ctc/Ttc 0 -IFRD2 UCSF GRCh37 3 50326905 50326905 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 45 21 59 0 ENST00000429673.2:c.944G>A p.Ser315Asn p.S315N ENST00000429673 315 aGc/aAc 0 -IFT122 UCSF GRCh37 3 129197029 129197029 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 44 100 0 ENST00000296266.3:c.1471G>A p.Val491Met p.V491M ENST00000296266 NM_052985.3 491 Gtg/Atg 0 -IGF2BP1 UCSF GRCh37 17 47122362 47122362 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 132 66 205 0 ENST00000290341.3:c.1330C>T p.Pro444Ser p.P444S ENST00000290341 NM_006546.3 444 Ccc/Tcc 0 -IGF2R UCSF GRCh37 6 160493852 160493852 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 66 167 0 ENST00000356956.1:c.4626C>T p.Tyr1542= p.Y1542= ENST00000356956 NM_000876.2 1542 taC/taT 0 -IGF2R UCSF GRCh37 6 160467530 160467530 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 51 36 73 0 ENST00000356956.1:c.1904G>A p.Gly635Glu p.G635E ENST00000356956 NM_000876.2 635 gGg/gAg 0 -IGFN1 UCSF GRCh37 1 201185818 201185818 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 29 87 0 ENST00000335211.4:c.9532G>A p.Ala3178Thr p.A3178T ENST00000335211 NM_001164586.1 3178 Gct/Act 0 -IGHMBP2 UCSF GRCh37 11 68703919 68703919 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 65 121 0 ENST00000255078.3:c.1971G>A p.Gln657= p.Q657= ENST00000255078 NM_002180.2 657 caG/caA 0 -IGSF23 UCSF GRCh37 19 45127135 45127135 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 53 160 0 ENST00000402988.1:c.257G>A p.Ser86Asn p.S86N ENST00000402988 NM_001205280.1 86 aGt/aAt 0 -IGSF9 UCSF GRCh37 1 159898138 159898138 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 14 38 0 ENST00000368094.1:c.3040C>T p.Pro1014Ser p.P1014S ENST00000368094 NM_001135050.1 1014 Cct/Tct 0 -IK UCSF GRCh37 5 140037151 140037151 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 236 154 353 0 ENST00000417647.2:c.814C>T p.Leu272= p.L272= ENST00000417647 NM_006083.3 272 Ctg/Ttg 0 -IKBKB UCSF GRCh37 8 42174227 42174227 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 37 33 72 0 ENST00000520810.1:c.931-1G>A p.X311_splice ENST00000520810 NM_001556.2 0 -IKZF1 UCSF GRCh37 7 50444387 50444387 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 164 99 244 0 ENST00000331340.3:c.317G>A p.Gly106Glu p.G106E ENST00000331340 NM_006060.4 106 gGa/gAa 0 -IKZF5 UCSF GRCh37 10 124753424 124753424 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 91 193 0 ENST00000368886.5:c.1132C>T p.Leu378Phe p.L378F ENST00000368886 NM_001271840.1 378 Ctt/Ttt 0 -IL17RC UCSF GRCh37 3 9974706 9974706 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 10 23 0 ENST00000295981.3:c.1805G>A p.Gly602Asp p.G602D ENST00000295981 NM_153461.3 602 gGc/gAc 0 -IL20RB UCSF GRCh37 3 136710806 136710806 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 115 82 163 0 ENST00000329582.4:c.558G>A p.Gly186= p.G186= ENST00000329582 NM_144717.3 186 ggG/ggA 0 -ILF3 UCSF GRCh37 19 10793267 10793267 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 36 79 0 ENST00000449870.1:c.1435G>A p.Gly479Arg p.G479R ENST00000449870 NM_017620.2 479 Ggg/Agg 0 -IMP5 UCSF GRCh37 17 43924060 43924060 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 73 134 0 ENST00000329196.5:c.1788C>T p.Asp596= p.D596= ENST00000329196 NM_175882.2 596 gaC/gaT 0 -IMPG2 UCSF GRCh37 3 100994553 100994553 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 61 141 0 ENST00000193391.7:c.620C>T p.Ala207Val p.A207V ENST00000193391 NM_016247.3 207 gCc/gTc 0 -IMPG2 UCSF GRCh37 3 100961716 100961716 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 73 167 0 ENST00000193391.7:c.2838C>T p.Phe946= p.F946= ENST00000193391 NM_016247.3 946 ttC/ttT 0 -INADL UCSF GRCh37 1 62240978 62240978 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 168 117 276 0 ENST00000371158.2:c.821C>T p.Thr274Ile p.T274I ENST00000371158 NM_176877.2 274 aCt/aTt 0 -INO80D UCSF GRCh37 2 206921489 206921489 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0021 P18_Rec Untested WXS Illumina HiSeq 112 86 211 0 ENST00000403263.1:c.397C>T p.Pro133Ser p.P133S ENST00000403263 NM_017759.4 133 Cca/Tca 0 -INPP4A UCSF GRCh37 2 99136584 99136584 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 8 57 0 ENST00000074304.5:c.73G>A p.Val25Met p.V25M ENST00000074304 NM_001134224.1 25 Gtg/Atg 0 -INPP4A UCSF GRCh37 2 99170778 99170778 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 48 82 0 ENST00000074304.5:c.1407C>T p.Asn469= p.N469= ENST00000074304 NM_001134224.1 469 aaC/aaT 0 -INPP5F UCSF GRCh37 10 121579000 121579000 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 37 117 0 ENST00000361976.2:c.1887-1358G>A *629* ENST00000361976 NM_014937.3 0 -INPP5K UCSF GRCh37 17 1416790 1416790 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 165 114 231 0 ENST00000421807.2:c.218G>A p.Ser73Asn p.S73N ENST00000421807 NM_016532.3 73 aGc/aAc 0 -INTS10 UCSF GRCh37 8 19675133 19675133 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 7 8 15 0 ENST00000397977.3:c.85C>T p.Leu29= p.L29= ENST00000397977 NM_018142.2 29 Ctg/Ttg 0 -INTS3 UCSF GRCh37 1 153736307 153736307 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 14 42 0 ENST00000318967.2:c.1767-1G>A p.X589_splice ENST00000318967 NM_023015.3 0 -INTS3 UCSF GRCh37 1 153740288 153740288 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 63 109 0 ENST00000318967.2:c.2229C>T p.Pro743= p.P743= ENST00000318967 NM_023015.3 743 ccC/ccT 0 -INTS5 UCSF GRCh37 11 62414821 62414821 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 108 176 0 ENST00000330574.2:c.2731G>A p.Val911Met p.V911M ENST00000330574 NM_030628.1 911 Gtg/Atg 0 -IP6K3 UCSF GRCh37 6 33696027 33696027 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 37 84 0 ENST00000451316.1:c.250G>A p.Val84Ile p.V84I ENST00000451316 NM_001142883.1 84 Gtt/Att 0 -IPO4 UCSF GRCh37 14 24656119 24656119 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 41 111 0 ENST00000354464.6:c.721C>T p.Pro241Ser p.P241S ENST00000354464 NM_024658.3 241 Ccc/Tcc 0 -IPO5 UCSF GRCh37 13 98654779 98654779 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 66 186 0 ENST00000261574.5:c.1221C>T p.Cys407= p.C407= ENST00000261574 NM_002271.4 407 tgC/tgT 0 -IQCB1 UCSF GRCh37 3 121544935 121544935 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 46 122 0 ENST00000310864.6:c.356G>A p.Gly119Glu p.G119E ENST00000310864 NM_001023570.2 119 gGg/gAg 0 -IQCG UCSF GRCh37 3 197619574 197619574 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 165 133 320 0 ENST00000265239.6:c.1020G>A p.Met340Ile p.M340I ENST00000265239 NM_032263.3 340 atG/atA 0 -IQCJ-SCHIP1 UCSF GRCh37 3 159606716 159606716 + synonymous_variant Silent SNP C C T snp132_rs2306063 P18_Rec Untested WXS Illumina HiSeq 121 93 201 0 ENST00000445224.2:c.573C>T p.Leu191= p.L191= ENST00000445224 NM_001197109.1 191 ctC/ctT 0 -IREB2 UCSF GRCh37 15 78786575 78786575 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 224 125 301 0 ENST00000258886.8:c.2564G>A p.Arg855Lys p.R855K ENST00000258886 NM_004136.2 855 aGa/aAa 0 -IRF2 UCSF GRCh37 4 185350210 185350210 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 44 78 0 ENST00000393593.3:c.9G>A p.Val3= p.V3= ENST00000393593 NM_002199.3 3 gtG/gtA 0 -IRF2BP2 UCSF GRCh37 1 234743566 234743566 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 35 87 0 ENST00000366609.3:c.1081C>T p.Pro361Ser p.P361S ENST00000366609 NM_182972.2 361 Cca/Tca 0 -IRS4 UCSF GRCh37 X 107977198 107977198 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 166 159 0 ENST00000372129.2:c.2377C>T p.Pro793Ser p.P793S ENST00000372129 NM_003604.2 793 Ccc/Tcc 0 -IRX1 UCSF GRCh37 5 3600728 3600728 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 52 32 90 0 ENST00000302006.3:c.1318G>A p.Asp440Asn p.D440N ENST00000302006 NM_024337.3 440 Gac/Aac 0 -ITFG1 UCSF GRCh37 16 47409814 47409814 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 45 118 0 ENST00000320640.6:c.693C>T p.Thr231= p.T231= ENST00000320640 NM_030790.3 231 acC/acT 0 -ITGA5 UCSF GRCh37 12 54795811 54795811 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 51 131 0 ENST00000293379.4:c.2200G>A p.Gly734Ser p.G734S ENST00000293379 NM_002205.2 734 Ggc/Agc 0 -ITGA8 UCSF GRCh37 10 15647730 15647730 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 36 89 0 ENST00000378076.3:c.1963G>A p.Ala655Thr p.A655T ENST00000378076 NM_003638.1 655 Gct/Act 0 -ITGA8 UCSF GRCh37 10 15719614 15719614 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 239 126 185 0 ENST00000378076.3:c.653G>A p.Gly218Glu p.G218E ENST00000378076 NM_003638.1 218 gGa/gAa 0 -ITGAD UCSF GRCh37 16 31429662 31429662 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 56 115 0 ENST00000389202.2:c.2657C>T p.Thr886Ile p.T886I ENST00000389202 NM_005353.2 886 aCc/aTc 0 -ITGAL UCSF GRCh37 16 30500707 30500707 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 49 123 1 ENST00000356798.6:c.1213G>A p.Gly405Ser p.G405S ENST00000356798 NM_002209.2 405 Ggt/Agt 0 -ITGB3 UCSF GRCh37 17 45360902 45360902 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 78 46 121 0 ENST00000559488.1:c.348C>T p.Leu116= p.L116= ENST00000559488 NM_000212.2 116 ctC/ctT 0 -ITGB4 UCSF GRCh37 17 73739880 73739880 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 19 40 0 ENST00000200181.3:c.3049C>T p.Leu1017= p.L1017= ENST00000200181 NM_000213.3 1017 Ctg/Ttg 0 -ITGB4 UCSF GRCh37 17 73752517 73752517 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 41 112 0 ENST00000200181.3:c.4716G>A p.Leu1572= p.L1572= ENST00000200181 NM_000213.3 1572 ctG/ctA 0 -ITIH1 UCSF GRCh37 3 52812466 52812466 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 90 220 0 ENST00000273283.2:c.249G>A p.Arg83= p.R83= ENST00000273283 NM_002215.3 83 agG/agA 0 -ITPKC UCSF GRCh37 19 41224119 41224119 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 55 111 0 ENST00000263370.2:c.1079C>T p.Ala360Val p.A360V ENST00000263370 NM_025194.2 360 gCc/gTc 0 -ITPR1 UCSF GRCh37 3 4715049 4715049 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 580 120 296 0 ENST00000302640.8:c.2389C>T p.Pro797Ser p.P797S ENST00000302640 NM_001168272.1 797 Ccc/Tcc 0 -ITPR1 UCSF GRCh37 3 4722322 4722322 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 292 56 135 0 ENST00000302640.8:c.3008C>T p.Thr1003Ile p.T1003I ENST00000302640 NM_001168272.1 1003 aCt/aTt 0 -ITPR1 UCSF GRCh37 3 4681123 4681123 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 355 76 154 0 ENST00000302640.8:c.335G>A p.Gly112Glu p.G112E ENST00000302640 NM_001168272.1 112 gGg/gAg 0 -ITPR1 UCSF GRCh37 3 4808213 4808213 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 428 88 233 0 ENST00000302640.8:c.5500-1G>A p.X1834_splice ENST00000302640 NM_001168272.1 0 -ITPR1 UCSF GRCh37 3 4829658 4829658 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 551 132 263 0 ENST00000302640.8:c.6598C>T p.Gln2200Ter p.Q2200* ENST00000302640 NM_001168272.1 2200 Cag/Tag 0 -ITPR1 UCSF GRCh37 3 4817088 4817088 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 629 140 305 0 ENST00000302640.8:c.6097C>T p.Leu2033= p.L2033= ENST00000302640 NM_001168272.1 2033 Ctg/Ttg 0 -IWS1 UCSF GRCh37 2 128238734 128238734 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 70 157 0 ENST00000295321.4:c.2346G>A p.Lys782= p.K782= ENST00000295321 NM_017969.2 782 aaG/aaA 0 -JAG1 UCSF GRCh37 20 10620400 10620400 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 53 139 0 ENST00000254958.5:c.3403C>T p.Pro1135Ser p.P1135S ENST00000254958 NM_000214.2 1135 Ccc/Tcc 0 -JAKMIP2 UCSF GRCh37 5 147030033 147030033 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 60 146 0 ENST00000265272.5:c.705G>A p.Gln235= p.Q235= ENST00000265272 NM_014790.4 235 caG/caA 0 -JKAMP UCSF GRCh37 14 59970668 59970668 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 173 135 272 0 ENST00000261247.9:c.814G>A p.Asp272Asn p.D272N ENST00000261247 NM_001098625.1 272 Gat/Aat 0 -JUB UCSF GRCh37 14 23443256 23443256 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 144 103 249 0 ENST00000262713.2:c.1491G>A p.Glu497= p.E497= ENST00000262713 NM_032876.4 497 gaG/gaA 0 -JUNB UCSF GRCh37 19 12902742 12902742 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 28 47 0 ENST00000302754.4:c.157C>T p.Pro53Ser p.P53S ENST00000302754 NM_002229.2 53 Cct/Tct 0 -KANK1 UCSF GRCh37 9 713345 713345 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 108 229 0 ENST00000382303.1:c.2579G>A p.Gly860Asp p.G860D ENST00000382303 NM_001256876.1 860 gGc/gAc 0 -KANK4 UCSF GRCh37 1 62740568 62740568 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 97 194 0 ENST00000371153.4:c.208C>T p.Pro70Ser p.P70S ENST00000371153 NM_181712.4 70 Ccc/Tcc 0 -KAT6B UCSF GRCh37 10 76602646 76602646 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 103 246 0 ENST00000287239.4:c.31G>A p.Glu11Lys p.E11K ENST00000287239 NM_001256468.1 11 Gag/Aag 0 -KAZN UCSF GRCh37 1 15382767 15382767 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 26 57 0 ENST00000376030.2:c.907G>A p.Asp303Asn p.D303N ENST00000376030 NM_201628.2 303 Gac/Aac 0 -KBTBD10 UCSF GRCh37 2 170382119 170382119 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 117 80 197 0 ENST00000284669.1:c.1734G>A p.Trp578Ter p.W578* ENST00000284669 NM_006063.2 578 tgG/tgA 0 -KBTBD10 UCSF GRCh37 2 170374757 170374757 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 73 149 0 ENST00000284669.1:c.1434G>A p.Leu478= p.L478= ENST00000284669 NM_006063.2 478 ctG/ctA 0 -KBTBD6 UCSF GRCh37 13 41705456 41705456 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 92 239 0 ENST00000379485.1:c.1192G>A p.Ala398Thr p.A398T ENST00000379485 NM_152903.4 398 Gct/Act 0 -KCNA4 UCSF GRCh37 11 30033280 30033280 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 136 91 203 0 ENST00000328224.6:c.946G>A p.Val316Ile p.V316I ENST00000328224 NM_002233.3 316 Gtc/Atc 0 -KCMT-ND2 UCSF GRCh37 7 119914851 119914851 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 117 237 0 ENST00000331113.4:c.165G>A p.Trp55Ter p.W55* ENST00000331113 NM_012281.2 55 tgG/tgA 0 -KCMT-ND3 UCSF GRCh37 1 112524839 112524839 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 45 33 101 0 ENST00000315987.2:c.510G>A p.Trp170Ter p.W170* ENST00000315987 NM_004980.4 170 tgG/tgA 0 -KCNF1 UCSF GRCh37 2 11053062 11053062 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 24 82 0 ENST00000295082.1:c.510G>A p.Lys170= p.K170= ENST00000295082 NM_002236.4 170 aaG/aaA 0 -KCNH1 UCSF GRCh37 1 210857328 210857328 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 38 86 0 ENST00000271751.4:c.2265G>A p.Glu755= p.E755= ENST00000271751 755 gaG/gaA 0 -KCNH6 UCSF GRCh37 17 61607784 61607784 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 59 132 0 ENST00000583023.1:c.556C>T p.Leu186Phe p.L186F ENST00000583023 NM_030779.3 186 Ctc/Ttc 0 -KCNH8 UCSF GRCh37 3 19295191 19295191 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 152 104 236 0 ENST00000328405.2:c.122C>T p.Pro41Leu p.P41L ENST00000328405 NM_144633.2 41 cCc/cTc 0 -KCNJ16 UCSF GRCh37 17 68129012 68129012 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 182 114 274 0 ENST00000392670.1:c.784C>T p.Pro262Ser p.P262S ENST00000392670 262 Cct/Tct 0 -KCNJ3 UCSF GRCh37 2 155711415 155711415 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 75 196 0 ENST00000295101.2:c.1096C>T p.Leu366Phe p.L366F ENST00000295101 NM_002239.3 366 Ctc/Ttc 0 -KCNK1 UCSF GRCh37 1 233802420 233802420 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 39 100 0 ENST00000366621.3:c.435C>T p.Thr145= p.T145= ENST00000366621 NM_002245.3 145 acC/acT 0 -KCNK13 UCSF GRCh37 14 90650846 90650846 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 90 208 0 ENST00000282146.4:c.726C>T p.Asp242= p.D242= ENST00000282146 NM_022054.3 242 gaC/gaT 0 -KCNK16 UCSF GRCh37 6 39282863 39282863 + 3_prime_UTR_variant 3'UTR SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 61 142 0 ENST00000425054.2:c.*37G>A *13* ENST00000425054 NM_001135105.1 0 -KCNK17 UCSF GRCh37 6 39267491 39267491 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 76 139 0 ENST00000373231.4:c.711C>T p.Tyr237= p.Y237= ENST00000373231 NM_031460.3 237 taC/taT 0 -KCNK4 UCSF GRCh37 11 64065096 64065096 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 86 57 131 0 ENST00000539216.1:c.632C>T p.Thr211Ile p.T211I ENST00000539216 211 aCc/aTc 0 -KCNK5 UCSF GRCh37 6 39162060 39162060 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 75 145 0 ENST00000359534.3:c.519C>T p.Val173= p.V173= ENST00000359534 NM_003740.3 173 gtC/gtT 0 -KCNMA1 UCSF GRCh37 10 79163778 79163778 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 54 106 0 ENST00000404857.1:c.382G>A p.Ala128Thr p.A128T ENST00000404857 NM_001161353.1 128 Gcc/Acc 0 -KCNT1 UCSF GRCh37 9 138645788 138645788 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 27 64 1 ENST00000371757.2:c.440G>A p.Gly147Asp p.G147D ENST00000371757 NM_020822.2 147 gGc/gAc 0 -KCNT1 UCSF GRCh37 9 138649046 138649046 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 62 44 119 0 ENST00000371757.2:c.645G>A p.Glu215= p.E215= ENST00000371757 NM_020822.2 215 gaG/gaA 0 -KCNT1 UCSF GRCh37 9 138678090 138678090 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 9 18 0 ENST00000371757.2:c.3225G>A p.Val1075= p.V1075= ENST00000371757 NM_020822.2 1075 gtG/gtA 0 -KCNU1 UCSF GRCh37 8 36691074 36691074 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 229 201 371 0 ENST00000399881.3:c.1109C>T p.Thr370Ile p.T370I ENST00000399881 NM_001031836.2 370 aCc/aTc 0 -KDM2B UCSF GRCh37 12 122016746 122016746 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 42 68 0 ENST00000377071.4:c.232C>T p.Leu78= p.L78= ENST00000377071 NM_032590.4 78 Ctg/Ttg 0 -KDM3B UCSF GRCh37 5 137754882 137754882 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 54 131 0 ENST00000314358.5:c.3676G>A p.Ala1226Thr p.A1226T ENST00000314358 NM_016604.3 1226 Gca/Aca 0 -KDM3B UCSF GRCh37 5 137767249 137767249 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 74 212 0 ENST00000314358.5:c.5205+1G>A p.X1735_splice ENST00000314358 NM_016604.3 0 -KERA UCSF GRCh37 12 91445287 91445287 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 52 134 0 ENST00000266719.3:c.895G>A p.Val299Ile p.V299I ENST00000266719 NM_007035.3 299 Gtc/Atc 0 -BLTP2 UCSF GRCh37 17 26945953 26945953 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 78 57 105 0 ENST00000528896.2:c.5679G>A p.Lys1893= p.K1893= ENST00000528896 NM_014680.3 1893 aaG/aaA 0 -BLTP2 UCSF GRCh37 17 26950785 26950785 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 83 171 0 ENST00000528896.2:c.4952G>A p.Trp1651Ter p.W1651* ENST00000528896 NM_014680.3 1651 tGg/tAg 0 -BLTP2 UCSF GRCh37 17 26960944 26960944 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 65 137 0 ENST00000528896.2:c.3231G>A p.Met1077Ile p.M1077I ENST00000528896 NM_014680.3 1077 atG/atA 0 -KIAA0141 UCSF GRCh37 5 141305047 141305047 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 67 162 0 ENST00000432126.2:c.219G>A p.Met73Ile p.M73I ENST00000432126 NM_014773.3 73 atG/atA 0 -KIAA0196 UCSF GRCh37 8 126093945 126093945 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 119 60 185 0 ENST00000318410.7:c.476G>A p.Gly159Glu p.G159E ENST00000318410 NM_014846.3 159 gGa/gAa 0 -KIAA0226 UCSF GRCh37 3 197421334 197421334 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 77 177 0 ENST00000296343.5:c.1596C>T p.Ile532= p.I532= ENST00000296343 NM_014687.1 532 atC/atT 0 -KIAA0232 UCSF GRCh37 4 6863304 6863304 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 89 163 0 ENST00000307659.5:c.1195G>A p.Glu399Lys p.E399K ENST00000307659 NM_014743.2 399 Gag/Aag 0 -KIAA0240 UCSF GRCh37 6 42797076 42797076 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 188 157 330 0 ENST00000314073.5:c.1005G>A p.Gln335= p.Q335= ENST00000314073 335 caG/caA 0 -KIAA0284 UCSF GRCh37 14 105350247 105350247 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 17 52 0 ENST00000414716.3:c.1131G>A p.Leu377= p.L377= ENST00000414716 NM_001112726.2 377 ttG/ttA 0 -KIAA0415 UCSF GRCh37 7 4821359 4821359 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 28 78 0 ENST00000348624.4:c.340C>T p.Leu114= p.L114= ENST00000348624 NM_014855.2 114 Ctg/Ttg 0 -KIAA0430 UCSF GRCh37 16 15710946 15710946 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 205 77 188 0 ENST00000396368.3:c.3040C>T p.Leu1014Phe p.L1014F ENST00000396368 NM_001184998.1 1014 Ctt/Ttt 0 -KIAA0564 UCSF GRCh37 13 42295652 42295652 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 95 156 0 ENST00000379310.3:c.2818C>T p.Leu940Phe p.L940F ENST00000379310 NM_015058.1 940 Ctc/Ttc 0 -KIAA0889 UCSF GRCh37 20 35444374 35444374 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 27 70 0 ENST00000237536.4:c.1471C>T p.Pro491Ser p.P491S ENST00000237536 NM_080627.2 491 Cct/Tct 0 -KIAA0922 UCSF GRCh37 4 154512332 154512332 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 109 267 0 ENST00000409959.3:c.1798C>T p.Leu600Phe p.L600F ENST00000409959 NM_001131007.1 600 Ctt/Ttt 0 -KIAA0947 UCSF GRCh37 5 5464975 5464975 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 40 69 0 ENST00000296564.7:c.5528G>A p.Arg1843Lys p.R1843K ENST00000296564 NM_015325.2 1843 aGa/aAa 0 -KIAA1211 UCSF GRCh37 4 57190331 57190331 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 36 120 0 ENST00000504228.1:c.3440C>T p.Ser1147Phe p.S1147F ENST00000504228 1147 tCc/tTc 0 -KIAA1211 UCSF GRCh37 4 57182328 57182328 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 20 73 0 ENST00000504228.1:c.2660G>A p.Gly887Glu p.G887E ENST00000504228 887 gGg/gAg 0 -KIAA1217 UCSF GRCh37 10 24813287 24813287 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 101 63 110 0 ENST00000376454.3:c.2492C>T p.Ala831Val p.A831V ENST00000376454 NM_019590.3 831 gCa/gTa 0 -KIAA1217 UCSF GRCh37 10 24813626 24813626 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 141 41 98 0 ENST00000376454.3:c.2831C>T p.Ala944Val p.A944V ENST00000376454 NM_019590.3 944 gCc/gTc 0 -KIAA1217 UCSF GRCh37 10 24831845 24831845 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 59 104 0 ENST00000376454.3:c.3646C>T p.Pro1216Ser p.P1216S ENST00000376454 NM_019590.3 1216 Cct/Tct 0 -KIAA1217 UCSF GRCh37 10 24834887 24834887 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 279 149 263 0 ENST00000376454.3:c.5466C>T p.Ser1822= p.S1822= ENST00000376454 NM_019590.3 1822 agC/agT 0 -KIAA1310 UCSF GRCh37 2 97267863 97267863 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 26 57 0 ENST00000431828.1:c.2472C>T p.Asn824= p.N824= ENST00000431828 824 aaC/aaT 0 -KIAA1370 UCSF GRCh37 15 52903407 52903407 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 132 341 0 ENST00000261844.7:c.450C>T p.Val150= p.V150= ENST00000261844 NM_019600.2 150 gtC/gtT 0 -KIAA1383 UCSF GRCh37 1 232942673 232942673 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 149 126 213 0 ENST00000418460.1:c.1904G>A p.Gly635Glu p.G635E ENST00000418460 NM_019090.2 635 gGg/gAg 0 -KIAA1468 UCSF GRCh37 18 59942649 59942649 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 34 81 0 ENST00000398130.2:c.2910G>A p.Trp970Ter p.W970* ENST00000398130 NM_020854.3 970 tgG/tgA 0 -KIAA1614 UCSF GRCh37 1 180885292 180885292 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 18 52 0 ENST00000367588.4:c.53G>A p.Gly18Glu p.G18E ENST00000367588 NM_020950.1 18 gGg/gAg 0 -KIAA1671 UCSF GRCh37 22 25424711 25424711 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 5 17 28 0 ENST00000358431.3:c.745G>A p.Glu249Lys p.E249K ENST00000358431 NM_001145206.1 249 Gag/Aag 0 -KIAA1958 UCSF GRCh37 9 115408050 115408050 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 81 182 0 ENST00000337530.6:c.1292G>A p.Trp431Ter p.W431* ENST00000337530 NM_001287038.1 431 tGg/tAg 0 -KIAA2018 UCSF GRCh37 3 113377351 113377351 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 167 107 268 0 ENST00000316407.4:c.3178G>A p.Asp1060Asn p.D1060N ENST00000316407 NM_001009899.2 1060 Gat/Aat 0 -KIAA2018 UCSF GRCh37 3 113380149 113380149 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 143 96 227 0 ENST00000316407.4:c.380G>A p.Gly127Glu p.G127E ENST00000316407 NM_001009899.2 127 gGa/gAa 0 -KIF12 UCSF GRCh37 9 116854152 116854152 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 19 41 0 ENST00000374118.3:c.1531C>T p.Pro511Ser p.P511S ENST00000374118 NM_138424.1 511 Cct/Tct 0 -KIF13A UCSF GRCh37 6 17817358 17817358 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 70 105 0 ENST00000259711.6:c.1893C>T p.Leu631= p.L631= ENST00000259711 NM_022113.5 631 ctC/ctT 0 -KIF13A UCSF GRCh37 6 17799560 17799560 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 69 137 0 ENST00000259711.6:c.2727C>T p.Asp909= p.D909= ENST00000259711 NM_022113.5 909 gaC/gaT 0 -KIF15 UCSF GRCh37 3 44868999 44868999 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 43 119 0 ENST00000326047.4:c.2835G>A p.Glu945= p.E945= ENST00000326047 NM_020242.2 945 gaG/gaA 0 -KIF19 UCSF GRCh37 17 72351387 72351387 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 39 29 77 0 ENST00000389916.4:c.2933G>A p.Arg978His p.R978H ENST00000389916 NM_153209.3 978 cGt/cAt 0 -KIF1B UCSF GRCh37 1 10386370 10386370 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 71 151 0 ENST00000263934.6:c.2739G>A p.Gly913= p.G913= ENST00000263934 NM_015074.3 913 ggG/ggA 0 -KIF1B UCSF GRCh37 1 10402188 10402188 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 187 133 312 0 ENST00000263934.6:c.3456G>A p.Gln1152= p.Q1152= ENST00000263934 NM_015074.3 1152 caG/caA 0 -KIF21B UCSF GRCh37 1 200959124 200959124 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 32 91 0 ENST00000422435.2:c.3078C>T p.Ser1026= p.S1026= ENST00000422435 NM_001252100.1 1026 tcC/tcT 0 -KIF26A UCSF GRCh37 14 104639339 104639339 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 30 19 51 0 ENST00000423312.2:c.1446G>A p.Lys482= p.K482= ENST00000423312 NM_015656.1 482 aaG/aaA 0 -KIF3B UCSF GRCh37 20 30919053 30919053 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 69 166 0 ENST00000375712.3:c.2175C>T p.Ser725= p.S725= ENST00000375712 NM_004798.3 725 tcC/tcT 0 -KIF5B UCSF GRCh37 10 32321645 32321645 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 79 182 0 ENST00000302418.4:c.1363G>A p.Asp455Asn p.D455N ENST00000302418 NM_004521.2 455 Gat/Aat 0 -KIF5B UCSF GRCh37 10 32311839 32311839 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 122 87 192 0 ENST00000302418.4:c.1851G>A p.Glu617= p.E617= ENST00000302418 NM_004521.2 617 gaG/gaA 0 -KIFC3 UCSF GRCh37 16 57793698 57793698 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 7 19 0 ENST00000379655.4:c.2418C>T p.Ala806= p.A806= ENST00000379655 NM_005550.3 806 gcC/gcT 0 -KIRREL3 UCSF GRCh37 11 126333116 126333116 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 32 70 0 ENST00000525144.2:c.678G>A p.Val226= p.V226= ENST00000525144 NM_032531.3 226 gtG/gtA 0 -KLF17 UCSF GRCh37 1 44595450 44595450 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 48 133 0 ENST00000372299.3:c.507G>A p.Met169Ile p.M169I ENST00000372299 NM_173484.3 169 atG/atA 0 -KLF6 UCSF GRCh37 10 3824180 3824180 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 245 159 227 0 ENST00000497571.1:c.329G>A p.Ser110Asn p.S110N ENST00000497571 NM_001300.5 110 aGc/aAc 0 -KLHDC10 UCSF GRCh37 7 129762040 129762040 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 186 215 0 ENST00000335420.5:c.777G>A p.Glu259= p.E259= ENST00000335420 NM_014997.3 259 gaG/gaA 0 -KLHDC8B UCSF GRCh37 3 49211804 49211804 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 56 157 0 ENST00000332780.2:c.509C>T p.Thr170Ile p.T170I ENST00000332780 NM_173546.2 170 aCc/aTc 0 -KLHL17 UCSF GRCh37 1 899356 899356 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 80 134 0 ENST00000338591.3:c.1412C>T p.Thr471Ile p.T471I ENST00000338591 NM_198317.2 471 aCc/aTc 0 -KLHL17 UCSF GRCh37 1 898853 898853 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 25 54 0 ENST00000338591.3:c.1324G>A p.Gly442Ser p.G442S ENST00000338591 NM_198317.2 442 Ggc/Agc 0 -KLHL17 UCSF GRCh37 1 897130 897130 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 15 63 0 ENST00000338591.3:c.489G>A p.Gln163= p.Q163= ENST00000338591 NM_198317.2 163 caG/caA 0 -KLHL21 UCSF GRCh37 1 6653605 6653605 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 44 31 85 0 ENST00000377658.4:c.1614C>T p.Arg538= p.R538= ENST00000377658 NM_014851.2 538 cgC/cgT 0 -KLHL7 UCSF GRCh37 7 23205492 23205492 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 76 66 156 0 ENST00000339077.5:c.1112C>A p.Pro371His p.P371H ENST00000339077 NM_001031710.2 371 cCt/cAt 0 -KLHL8 UCSF GRCh37 4 88106529 88106529 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 163 135 256 0 ENST00000273963.5:c.639C>T p.Leu213= p.L213= ENST00000273963 NM_020803.3 213 ctC/ctT 0 -KLK10 UCSF GRCh37 19 51519265 51519265 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 12 6 11 0 ENST00000309958.3:c.417G>A p.Met139Ile p.M139I ENST00000309958 NM_002776.4 139 atG/atA 0 -KLK12 UCSF GRCh37 19 51534051 51534051 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 68 139 0 ENST00000250351.4:c.584C>T p.Ala195Val p.A195V ENST00000250351 195 gCc/gTc 0 -KPNA3 UCSF GRCh37 13 50306749 50306749 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 139 68 190 0 ENST00000261667.3:c.279G>A p.Gln93= p.Q93= ENST00000261667 NM_002267.3 93 caG/caA 0 -KPRP UCSF GRCh37 1 152733154 152733154 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 44 96 0 ENST00000368773.1:c.1090G>A p.Gly364Ser p.G364S ENST00000368773 NM_001025231.1 364 Ggc/Agc 0 -KREMEN1 UCSF GRCh37 22 29490366 29490366 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Rec Untested WXS Illumina HiSeq 68 8 141 0 ENST00000327813.5:c.218A>C p.Tyr73Ser p.Y73S ENST00000327813 NM_032045.4 73 tAc/tCc 0 -KRT12 UCSF GRCh37 17 39019559 39019559 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 30 26 64 0 ENST00000251643.4:c.1132G>A p.Gly378Ser p.G378S ENST00000251643 NM_000223.3 378 Ggc/Agc 0 -KRT17 UCSF GRCh37 17 39777949 39777949 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 126 98 171 0 ENST00000311208.8:c.730G>A p.Ala244Thr p.A244T ENST00000311208 NM_000422.2 244 Gcc/Acc 0 -KRT23 UCSF GRCh37 17 39081672 39081672 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 60 154 0 ENST00000209718.3:c.1076G>A p.Gly359Asp p.G359D ENST00000209718 NM_015515.3 359 gGc/gAc 0 -KRTAP10-3 UCSF GRCh37 21 45977945 45977945 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.005,1000g2011may_all_0.0170,snp132_rs13047815 P18_Rec Untested WXS Illumina HiSeq 42 29 66 0 ENST00000391620.1:c.654G>A p.Lys218= p.K218= ENST00000391620 NM_198696.2 218 aaG/aaA 0 -KRTAP4-7 UCSF GRCh37 17 39240848 39240848 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 49 96 0 ENST00000391417.4:c.390C>T p.Cys130= p.C130= ENST00000391417 NM_033061.3 130 tgC/tgT 0 -KRTCAP3 UCSF GRCh37 2 27666821 27666821 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 23 56 96 0 ENST00000543753.1:c.621G>A p.Glu207= p.E207= ENST00000543753 NM_001168364.1 207 gaG/gaA 0 -KSR2 UCSF GRCh37 12 118199019 118199019 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 56 91 0 ENST00000339824.5:c.783G>A p.Pro261= p.P261= ENST00000339824 261 ccG/ccA 0 -KTI12 UCSF GRCh37 1 52498937 52498937 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 59 151 0 ENST00000371614.1:c.497C>T p.Ala166Val p.A166V ENST00000371614 NM_138417.2 166 gCc/gTc 0 -LAG3 UCSF GRCh37 12 6882393 6882393 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 62 104 0 ENST00000203629.2:c.94G>A p.Val32Met p.V32M ENST00000203629 NM_002286.5 32 Gtg/Atg 0 -LAIR2 UCSF GRCh37 19 55021774 55021774 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 76 220 0 ENST00000301202.2:c.454C>T p.Pro152Ser p.P152S ENST00000301202 NM_002288.4 152 Cca/Tca 0 -LAMA3 UCSF GRCh37 18 21529802 21529802 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 81 56 145 0 ENST00000313654.9:c.9425C>T p.Ser3142Phe p.S3142F ENST00000313654 NM_198129.1 3142 tCt/tTt 0 -LAMA5 UCSF GRCh37 20 60909396 60909396 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 6 17 0 ENST00000252999.3:c.2585C>T p.Pro862Leu p.P862L ENST00000252999 NM_005560.4 862 cCt/cTt 0 -LAMB1 UCSF GRCh37 7 107599749 107599749 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 131 92 212 0 ENST00000222399.6:c.2635G>A p.Val879Met p.V879M ENST00000222399 NM_002291.2 879 Gtg/Atg 0 -LAMB4 UCSF GRCh37 7 107696233 107696233 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 53 131 0 ENST00000388781.3:c.3599C>T p.Ala1200Val p.A1200V ENST00000388781 NM_007356.2 1200 gCt/gTt 0 -LAMB4 UCSF GRCh37 7 107708557 107708557 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 93 164 0 ENST00000388781.3:c.2350C>T p.Leu784Phe p.L784F ENST00000388781 NM_007356.2 784 Ctt/Ttt 0 -LAMTOR2 UCSF GRCh37 1 156025217 156025217 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 59 121 0 ENST00000368305.4:c.231+1G>A p.X77_splice ENST00000368305 NM_014017.3 0 -LANCL2 UCSF GRCh37 7 55467677 55467677 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 120 264 0 ENST00000254770.2:c.558C>T p.Val186= p.V186= ENST00000254770 NM_018697.3 186 gtC/gtT 0 -LARS2 UCSF GRCh37 3 45518014 45518014 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 128 75 187 0 ENST00000415258.1:c.913G>A p.Ala305Thr p.A305T ENST00000415258 305 Gcc/Acc 0 -LARS2 UCSF GRCh37 3 45561725 45561725 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 110 80 174 0 ENST00000415258.1:c.2229C>T p.Phe743= p.F743= ENST00000415258 743 ttC/ttT 0 -LBP UCSF GRCh37 20 37005267 37005267 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 171 114 271 0 ENST00000217407.2:c.1402G>A p.Asp468Asn p.D468N ENST00000217407 NM_004139.3 468 Gac/Aac 0 -LCA5 UCSF GRCh37 6 80198823 80198823 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 139 105 208 0 ENST00000392959.1:c.1209G>A p.Gln403= p.Q403= ENST00000392959 NM_181714.3 403 caG/caA 0 -LCE1B UCSF GRCh37 1 152785227 152785227 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 45 118 0 ENST00000360090.3:c.305G>A p.Gly102Asp p.G102D ENST00000360090 NM_178349.1 102 gGc/gAc 0 -LCORL UCSF GRCh37 4 17847453 17847453 + downstream_gene_variant 3'Flank SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 154 114 230 0 ENST00000251496 NM_022346.4 0 -LCT UCSF GRCh37 2 136594109 136594109 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 140 83 215 0 ENST00000264162.2:c.631G>T p.Ala211Ser p.A211S ENST00000264162 NM_002299.2 211 Gct/Tct 0 -LETM1 UCSF GRCh37 4 1823919 1823919 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 58 112 0 ENST00000302787.2:c.1597G>A p.Glu533Lys p.E533K ENST00000302787 NM_012318.2 533 Gag/Aag 0 -LGALS4 UCSF GRCh37 19 39297145 39297145 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 68 139 0 ENST00000307751.4:c.430C>T p.Leu144Phe p.L144F ENST00000307751 NM_006149.3 144 Ctt/Ttt 0 -LGALS9C UCSF GRCh37 17 18392297 18392297 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 29 22 81 0 ENST00000328114.6:c.487C>T p.Pro163Ser p.P163S ENST00000328114 NM_001040078.2 163 Ccg/Tcg 0 -LILRA6 UCSF GRCh37 19 54744315 54744315 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 246 75 304 0 ENST00000396365.2:c.1093C>T p.Pro365Ser p.P365S ENST00000396365 NM_024318.2 365 Cca/Tca 0 -LILRB1 UCSF GRCh37 19 55148046 55148046 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 54 150 0 ENST00000324602.7:c.1755G>A p.Gly585= p.G585= ENST00000324602 NM_001278399.1 585 ggG/ggA 0 -LILRB5 UCSF GRCh37 19 54756405 54756405 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 37 89 0 ENST00000449561.2:c.1482C>T p.Phe494= p.F494= ENST00000449561 494 ttC/ttT 0 -LIMCH1 UCSF GRCh37 4 41652573 41652573 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 53 116 0 ENST00000313860.7:c.1829G>A p.Gly610Asp p.G610D ENST00000313860 NM_014988.2 610 gGt/gAt 0 -LIMK1 UCSF GRCh37 7 73520545 73520545 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 50 154 0 ENST00000336180.2:c.853G>A p.Gly285Ser p.G285S ENST00000336180 NM_002314.3 285 Ggc/Agc 0 -LINGO3 UCSF GRCh37 19 2291415 2291415 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 45 23 74 0 ENST00000585527.1:c.361G>A p.Val121Ile p.V121I ENST00000585527 121 Gtc/Atc 0 -LIPH UCSF GRCh37 3 185252808 185252808 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 193 134 333 0 ENST00000296252.4:c.162A>G p.Ala54= p.A54= ENST00000296252 NM_139248.2 54 gcA/gcG 0 -LMCD1 UCSF GRCh37 3 8607163 8607163 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 233 64 145 0 ENST00000157600.3:c.769G>A p.Val257Ile p.V257I ENST00000157600 NM_014583.3 257 Gtc/Atc 0 -LMNA UCSF GRCh37 1 156105024 156105024 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 25 68 0 ENST00000368300.4:c.857G>A p.Gly286Glu p.G286E ENST00000368300 NM_170707.3 286 gGg/gAg 0 -LMO7 UCSF GRCh37 13 76379635 76379635 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 156 104 262 0 ENST00000465261.2:c.236G>A p.Gly79Asp p.G79D ENST00000465261 NM_015842.2 79 gGc/gAc 0 -LMO7 UCSF GRCh37 13 76407286 76407286 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 187 162 374 0 ENST00000465261.2:c.2350G>A p.Ala784Thr p.A784T ENST00000465261 NM_015842.2 784 Gca/Aca 0 -LMOD3 UCSF GRCh37 3 69168785 69168785 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 198 154 353 0 ENST00000420581.2:c.721C>T p.Leu241= p.L241= ENST00000420581 NM_198271.3 241 Ctg/Ttg 0 -LMTK2 UCSF GRCh37 7 97770709 97770709 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 86 193 0 ENST00000297293.5:c.232G>A p.Glu78Lys p.E78K ENST00000297293 NM_014916.3 78 Gaa/Aaa 0 -LMTK3 UCSF GRCh37 19 49001311 49001311 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 111 85 174 0 ENST00000270238.3:c.3102G>A p.Glu1034= p.E1034= ENST00000270238 NM_001080434.1 1034 gaG/gaA 0 -LNPEP UCSF GRCh37 5 96362436 96362436 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 99 175 0 ENST00000231368.5:c.2839G>A p.Glu947Lys p.E947K ENST00000231368 NM_005575.2 947 Gag/Aag 0 -LONP1 UCSF GRCh37 19 5711911 5711911 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 53 88 0 ENST00000360614.3:c.741G>A p.Glu247= p.E247= ENST00000360614 NM_004793.3 247 gaG/gaA 0 -LPA UCSF GRCh37 6 161022079 161022079 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 65 195 0 ENST00000447678.1:c.2997G>A p.Trp999Ter p.W999* ENST00000447678 NM_005577.2 999 tgG/tgA 0 -LPHN2 UCSF GRCh37 1 82436047 82436047 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 125 85 220 0 ENST00000319517.6:c.2732C>T p.Ala911Val p.A911V ENST00000319517 NM_012302.2 911 gCt/gTt 0 -LPHN3 UCSF GRCh37 4 62598985 62598985 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 195 136 317 0 ENST00000514591.1:c.908C>T p.Thr303Ile p.T303I ENST00000514591 303 aCt/aTt 0 -LPO UCSF GRCh37 17 56345285 56345285 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 44 155 0 ENST00000262290.4:c.2069C>T p.Pro690Leu p.P690L ENST00000262290 NM_006151.2 690 cCc/cTc 0 -LRCH1 UCSF GRCh37 13 47262035 47262035 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 48 157 0 ENST00000389797.3:c.871G>A p.Ala291Thr p.A291T ENST00000389797 NM_001164211.1 291 Gca/Aca 0 -LRFN4 UCSF GRCh37 11 66625310 66625310 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 19 59 0 ENST00000309602.4:c.95C>T p.Thr32Ile p.T32I ENST00000309602 NM_024036.4 32 aCc/aTc 0 -LRG1 UCSF GRCh37 19 4538924 4538924 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 38 101 0 ENST00000306390.6:c.72C>T p.Phe24= p.F24= ENST00000306390 NM_052972.2 24 ttC/ttT 0 -LRGUK UCSF GRCh37 7 133848209 133848209 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 87 166 0 ENST00000285928.2:c.856G>A p.Asp286Asn p.D286N ENST00000285928 NM_144648.1 286 Gat/Aat 0 -LRIT1 UCSF GRCh37 10 85994012 85994012 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 80 173 0 ENST00000372105.3:c.712C>T p.Leu238= p.L238= ENST00000372105 NM_015613.2 238 Ctg/Ttg 0 -LRRC15 UCSF GRCh37 3 194081183 194081183 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 155 122 248 0 ENST00000439944.2:c.608G>A p.Gly203Asp p.G203D ENST00000439944 NM_001135057.2 203 gGc/gAc 0 -LRRC16B UCSF GRCh37 14 24534907 24534907 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 62 114 0 ENST00000342740.5:c.3473C>T p.Ala1158Val p.A1158V ENST00000342740 NM_138360.3 1158 gCc/gTc 0 -LRRC17 UCSF GRCh37 7 102584853 102584853 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 134 101 212 0 ENST00000339431.4:c.1125C>T p.Gly375= p.G375= ENST00000339431 NM_001031692.2 375 ggC/ggT 0 -LRRC25 UCSF GRCh37 19 18507245 18507245 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 21 84 0 ENST00000339007.3:c.529C>T p.Leu177Phe p.L177F ENST00000339007 NM_145256.2 177 Ctt/Ttt 0 -LRRC36 UCSF GRCh37 16 67400959 67400959 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 93 194 0 ENST00000329956.6:c.794C>T p.Ser265Phe p.S265F ENST00000329956 NM_018296.5 265 tCc/tTc 0 -LRRC37B UCSF GRCh37 17 30376161 30376161 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 176 126 374 0 ENST00000341671.7:c.2424C>T p.Ser808= p.S808= ENST00000341671 NM_052888.2 808 tcC/tcT 0 -LRRC43 UCSF GRCh37 12 122684865 122684865 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 58 47 104 0 ENST00000339777.4:c.1479C>T p.Ile493= p.I493= ENST00000339777 NM_152759.4 493 atC/atT 0 -LRRC46 UCSF GRCh37 17 45913823 45913823 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 63 45 75 0 ENST00000269025.4:c.577C>T p.Pro193Ser p.P193S ENST00000269025 NM_033413.3 193 Cca/Tca 0 -LRRC46 UCSF GRCh37 17 45914311 45914311 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 82 169 0 ENST00000269025.4:c.791C>T p.Ala264Val p.A264V ENST00000269025 NM_033413.3 264 gCc/gTc 0 -LRRC47 UCSF GRCh37 1 3712429 3712429 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 14 12 0 ENST00000378251.1:c.612C>T p.Leu204= p.L204= ENST00000378251 NM_020710.2 204 ctC/ctT 0 -LRRC4B UCSF GRCh37 19 51022257 51022257 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 30 23 49 0 ENST00000599957.1:c.713G>A p.Gly238Asp p.G238D ENST00000599957 238 gGc/gAc 0 -LRRC56 UCSF GRCh37 11 550220 550220 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 2 23 39 0 ENST00000270115.7:c.572C>T p.Thr191Ile p.T191I ENST00000270115 NM_198075.3 191 aCc/aTc 0 -LRRC56 UCSF GRCh37 11 551933 551933 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 2 23 51 0 ENST00000270115.7:c.1004C>T p.Thr335Ile p.T335I ENST00000270115 NM_198075.3 335 aCc/aTc 0 -LRRC61 UCSF GRCh37 7 150034028 150034028 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 45 98 0 ENST00000359623.4:c.78C>T p.Gly26= p.G26= ENST00000359623 NM_001142928.1 26 ggC/ggT 0 -LRRC7 UCSF GRCh37 1 70257745 70257745 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 166 85 229 0 ENST00000035383.5:c.209C>T p.Ala70Val p.A70V ENST00000035383 NM_020794.2 70 gCt/gTt 0 -LRRFIP1 UCSF GRCh37 2 238628200 238628200 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 58 125 0 ENST00000392000.4:c.188G>A p.Arg63Lys p.R63K ENST00000392000 NM_001137552.1 63 aGa/aAa 0 -LRRK2 UCSF GRCh37 12 40728953 40728953 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 72 98 0 ENST00000298910.7:c.5942G>A p.Gly1981Asp p.G1981D ENST00000298910 NM_198578.3 1981 gGt/gAt 0 -LRRK2 UCSF GRCh37 12 40734120 40734120 + synonymous_variant Silent SNP A A C NOVEL P18_Rec Untested WXS Illumina HiSeq 43 143 243 0 ENST00000298910.7:c.5973A>C p.Ile1991= p.I1991= ENST00000298910 NM_198578.3 1991 atA/atC 0 -LRRN2 UCSF GRCh37 1 204588972 204588972 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 26 57 0 ENST00000367175.1:c.149C>T p.Ala50Val p.A50V ENST00000367175 50 gCt/gTt 0 -LRRTM2 UCSF GRCh37 5 138208784 138208784 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 217 186 317 0 ENST00000274711.6:c.1466C>T p.Pro489Leu p.P489L ENST00000274711 NM_015564.2 489 cCc/cTc 0 -LRTM2 UCSF GRCh37 12 1943854 1943854 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 24 63 0 ENST00000543818.1:c.1080C>T p.His360= p.H360= ENST00000543818 NM_001163926.1 360 caC/caT 0 -LRWD1 UCSF GRCh37 7 102106690 102106690 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 60 118 0 ENST00000292616.5:c.405G>A p.Glu135= p.E135= ENST00000292616 NM_152892.1 135 gaG/gaA 0 -LSAMP UCSF GRCh37 3 115560705 115560705 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 76 158 0 ENST00000490035.2:c.906C>T p.Ser302= p.S302= ENST00000490035 NM_002338.3 302 agC/agT 0 -LSM14B UCSF GRCh37 20 60699695 60699695 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 131 102 254 0 ENST00000279068.6:c.150C>T p.Asp50= p.D50= ENST00000279068 NM_144703.2 50 gaC/gaT 0 -LTB4R2 UCSF GRCh37 14 24780661 24780661 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 30 82 0 ENST00000528054.1:c.884G>A p.Gly295Glu p.G295E ENST00000528054 295 gGa/gAa 0 -LTBP4 UCSF GRCh37 19 41128531 41128531 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 18 21 31 0 ENST00000308370.7:c.3641G>A p.Gly1214Asp p.G1214D ENST00000308370 NM_001042544.1 1214 gGc/gAc 0 -LTK UCSF GRCh37 15 41796765 41796765 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 71 159 0 ENST00000263800.6:c.2194G>A p.Val732Met p.V732M ENST00000263800 NM_002344.5 732 Gtg/Atg 0 -LTN1 UCSF GRCh37 21 30329198 30329198 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 52 133 0 ENST00000389194.2:c.3103C>T p.Gln1035Ter p.Q1035* ENST00000389194 NM_015565.2 1035 Cag/Tag 0 -LTN1 UCSF GRCh37 21 30365211 30365211 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 30 30 81 0 ENST00000389194.2:c.54C>T p.Ser18= p.S18= ENST00000389194 NM_015565.2 18 tcC/tcT 0 -LYZL2 UCSF GRCh37 10 30918612 30918612 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 190 35 165 0 ENST00000375318.2:c.23G>A p.Cys8Tyr p.C8Y ENST00000375318 NM_183058.2 8 tGc/tAc 0 -MAGEA10-MAGEA5P UCSF GRCh37 X 151283771 151283771 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 99 96 0 ENST00000427663.2:n.447G>A *149* ENST00000427663 0 -MAGEA8 UCSF GRCh37 X 149013490 149013490 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 14 113 113 0 ENST00000535454.1:c.444C>T p.Asn148= p.N148= ENST00000535454 NM_001166400.1 148 aaC/aaT 0 -MAGEB1 UCSF GRCh37 X 30269223 30269223 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 3 38 56 0 ENST00000378981.3:c.613C>T p.Leu205= p.L205= ENST00000378981 NM_002363.4 205 Ctg/Ttg 0 -MAGEB16 UCSF GRCh37 X 35820630 35820630 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 66 68 0 ENST00000399989.1:c.317G>A p.Arg106Lys p.R106K ENST00000399989 NM_001099921.1 106 aGg/aAg 0 -MAGI3 UCSF GRCh37 1 114189228 114189228 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 126 106 162 0 ENST00000307546.9:c.2119G>A p.Val707Ile p.V707I ENST00000307546 NM_001142782.1 707 Gtc/Atc 0 -MAGI3 UCSF GRCh37 1 114196583 114196583 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 171 116 310 0 ENST00000307546.9:c.2572G>A p.Glu858Lys p.E858K ENST00000307546 NM_001142782.1 858 Gaa/Aaa 0 -MAGI3 UCSF GRCh37 1 114226361 114226361 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 106 199 0 ENST00000307546.9:c.4171G>A p.Gly1391Arg p.G1391R ENST00000307546 NM_001142782.1 1391 Gga/Aga 0 -MAL2 UCSF GRCh37 8 120252508 120252508 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 161 120 221 0 ENST00000276681.6:c.407C>T p.Thr136Ile p.T136I ENST00000276681 NM_052886.2 136 aCc/aTc 0 -MAMDC2 UCSF GRCh37 9 72840741 72840741 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 69 40 92 0 ENST00000377182.4:c.1987C>T p.Pro663Ser p.P663S ENST00000377182 NM_153267.4 663 Ccc/Tcc 0 -MANBA UCSF GRCh37 4 103571823 103571823 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 92 188 0 ENST00000226578.4:c.1740G>A p.Lys580= p.K580= ENST00000226578 NM_005908.3 580 aaG/aaA 0 -MANEA UCSF GRCh37 6 96034533 96034533 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 91 176 0 ENST00000358812.4:c.218C>T p.Thr73Ile p.T73I ENST00000358812 NM_024641.3 73 aCc/aTc 0 -MAP1B UCSF GRCh37 5 71491723 71491723 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 140 284 0 ENST00000296755.7:c.2541G>A p.Glu847= p.E847= ENST00000296755 NM_005909.3 847 gaG/gaA 0 -MAP2K4 UCSF GRCh37 17 12016621 12016621 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 108 84 203 0 ENST00000353533.5:c.757C>T p.Gln253Ter p.Q253* ENST00000353533 NM_003010.3 253 Cag/Tag 0 -MAP3K1 UCSF GRCh37 5 56174819 56174819 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 86 186 0 ENST00000399503.3:c.1978G>A p.Ala660Thr p.A660T ENST00000399503 NM_005921.1 660 Gcc/Acc 0 -MAP3K1 UCSF GRCh37 5 56177605 56177605 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 91 186 0 ENST00000399503.3:c.2578G>A p.Ala860Thr p.A860T ENST00000399503 NM_005921.1 860 Gca/Aca 0 -MAP3K15 UCSF GRCh37 X 19444406 19444406 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 103 92 0 ENST00000338883.4:c.1222G>A p.Val408Ile p.V408I ENST00000338883 NM_001001671.3 408 Gtt/Att 0 -MAP3K4 UCSF GRCh37 6 161469930 161469930 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 52 135 0 ENST00000392142.4:c.626C>T p.Pro209Leu p.P209L ENST00000392142 NM_005922.2 209 cCt/cTt 0 -MAPK10 UCSF GRCh37 4 87022299 87022299 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 73 130 0 ENST00000359221.3:c.636G>A p.Arg212= p.R212= ENST00000359221 212 agG/agA 0 -MAPKAPK3 UCSF GRCh37 3 50655216 50655216 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 30 67 0 ENST00000446044.1:c.219+1G>A p.X73_splice ENST00000446044 NM_001243926.1 0 -MAPKBP1 UCSF GRCh37 15 42116180 42116180 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 64 166 0 ENST00000456763.2:c.4152C>T p.Asn1384= p.N1384= ENST00000456763 NM_001128608.1 1384 aaC/aaT 0 -MARCH6 UCSF GRCh37 5 10394868 10394868 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 26 64 0 ENST00000274140.5:c.832C>T p.Leu278= p.L278= ENST00000274140 NM_005885.3 278 Cta/Tta 0 -MARS2 UCSF GRCh37 2 198570902 198570902 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 59 136 0 ENST00000282276.6:c.773G>A p.Arg258Lys p.R258K ENST00000282276 NM_138395.3 258 aGa/aAa 0 -MAST3 UCSF GRCh37 19 18256562 18256562 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 14 32 0 ENST00000262811.6:c.2962G>A p.Asp988Asn p.D988N ENST00000262811 NM_015016.1 988 Gac/Aac 0 -MASTL UCSF GRCh37 10 27448577 27448577 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 247 87 200 0 ENST00000375940.4:c.354C>T p.Val118= p.V118= ENST00000375940 118 gtC/gtT 0 -MATR3 UCSF GRCh37 5 138657666 138657666 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 75 190 0 ENST00000394805.3:c.1682G>A p.Gly561Glu p.G561E ENST00000394805 NM_001194955.1 561 gGg/gAg 0 -MAVS UCSF GRCh37 20 3845391 3845391 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0015 P18_Rec Untested WXS Illumina HiSeq 88 71 143 0 ENST00000428216.2:c.1114G>A p.Val372Met p.V372M ENST00000428216 NM_020746.4 372 Gtg/Atg 0 -MBD3 UCSF GRCh37 19 1585198 1585198 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 17 31 0 ENST00000156825.1:c.126G>A p.Lys42= p.K42= ENST00000156825 42 aaG/aaA 0 -MBD6 UCSF GRCh37 12 57918856 57918856 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 15 44 112 0 ENST00000355673.3:c.337C>T p.Leu113= p.L113= ENST00000355673 NM_052897.3 113 Ctg/Ttg 0 -MBNL3 UCSF GRCh37 X 131540357 131540357 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 11 64 86 0 ENST00000370853.3:c.241G>A p.Glu81Lys p.E81K ENST00000370853 NM_018388.3 81 Gag/Aag 0 -MBOAT7 UCSF GRCh37 19 54677978 54677978 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 64 122 0 ENST00000245615.1:c.1179G>A p.Lys393= p.K393= ENST00000245615 NM_024298.3 393 aaG/aaA 0 -MCCC2 UCSF GRCh37 5 70948514 70948514 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 47 133 0 ENST00000340941.6:c.1507G>A p.Ala503Thr p.A503T ENST00000340941 NM_022132.4 503 Gcg/Acg 0 -MCHR2 UCSF GRCh37 6 100395771 100395771 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 96 251 0 ENST00000281806.2:c.259C>T p.Pro87Ser p.P87S ENST00000281806 NM_001040179.1 87 Cct/Tct 0 -MCM3 UCSF GRCh37 6 52141149 52141149 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 34 83 0 ENST00000596288.1:c.1426G>A p.Val476Met p.V476M ENST00000596288 NM_002388.4 476 Gtg/Atg 0 -MDH2 UCSF GRCh37 7 75686800 75686800 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 80 48 100 0 ENST00000315758.5:c.308C>T p.Pro103Leu p.P103L ENST00000315758 NM_005918.2 103 cCc/cTc 0 -MDN1 UCSF GRCh37 6 90402360 90402360 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 111 228 0 ENST00000369393.3:c.10389G>A p.Lys3463= p.K3463= ENST00000369393 3463 aaG/aaA 0 -MED11 UCSF GRCh37 17 4636437 4636437 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 53 87 0 ENST00000293777.5:c.309G>A p.Lys103= p.K103= ENST00000293777 NM_001001683.2 103 aaG/aaA 0 -MED13 UCSF GRCh37 17 60042453 60042453 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 57 132 0 ENST00000397786.2:c.4758G>A p.Gly1586= p.G1586= ENST00000397786 NM_005121.2 1586 ggG/ggA 0 -MED13L UCSF GRCh37 12 116429432 116429432 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 46 131 0 ENST00000281928.3:c.3327C>T p.Leu1109= p.L1109= ENST00000281928 NM_015335.4 1109 ctC/ctT 0 -MED27 UCSF GRCh37 9 134889740 134889740 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 68 110 0 ENST00000292035.5:c.463C>T p.Leu155Phe p.L155F ENST00000292035 NM_004269.3 155 Ctt/Ttt 0 -MED27 UCSF GRCh37 9 134889742 134889742 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 59 109 0 ENST00000292035.5:c.461C>T p.Thr154Ile p.T154I ENST00000292035 NM_004269.3 154 aCt/aTt 0 -MED28 UCSF GRCh37 4 17625266 17625266 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 62 144 0 ENST00000237380.7:c.382C>T p.Leu128= p.L128= ENST00000237380 NM_025205.3 128 Cta/Tta 0 -MED4 UCSF GRCh37 13 48669160 48669160 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 27 58 0 ENST00000258648.2:c.55G>A p.Gly19Arg p.G19R ENST00000258648 NM_014166.3 19 Gga/Aga 0 -MED4 UCSF GRCh37 13 48669152 48669152 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 30 45 0 ENST00000258648.2:c.63G>A p.Ala21= p.A21= ENST00000258648 NM_014166.3 21 gcG/gcA 0 -MEGF6 UCSF GRCh37 1 3407119 3407119 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 9 33 0 ENST00000356575.4:c.4599C>T p.Ser1533= p.S1533= ENST00000356575 NM_001409.3 1533 tcC/tcT 0 -MEGF8 UCSF GRCh37 19 42860343 42860343 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 7 7 27 0 ENST00000334370.4:c.4300G>A p.Ala1434Thr p.A1434T ENST00000334370 NM_001410.2 1434 Gcc/Acc 0 -MEOX2 UCSF GRCh37 7 15725839 15725839 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 11 32 0 ENST00000262041.5:c.189G>A p.Gln63= p.Q63= ENST00000262041 NM_005924.4 63 caG/caA 0 -MEP1A UCSF GRCh37 6 46797172 46797172 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 144 105 216 0 ENST00000230588.4:c.1008C>T p.Tyr336= p.Y336= ENST00000230588 NM_005588.2 336 taC/taT 0 -MEPCE UCSF GRCh37 7 100030654 100030654 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 83 176 0 ENST00000310512.2:c.1784G>A p.Gly595Asp p.G595D ENST00000310512 NM_019606.5 595 gGc/gAc 0 -METTL22 UCSF GRCh37 16 8722649 8722649 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 138 62 130 1 ENST00000381920.3:c.196G>A p.Gly66Ser p.G66S ENST00000381920 NM_024109.2 66 Ggt/Agt 0 -METTL3 UCSF GRCh37 14 21967728 21967728 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 123 99 207 0 ENST00000298717.4:c.1360G>A p.Glu454Lys p.E454K ENST00000298717 NM_019852.3 454 Gaa/Aaa 0 -MEX3C UCSF GRCh37 18 48703067 48703067 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 110 218 0 ENST00000406189.3:c.1634C>T p.Ser545Phe p.S545F ENST00000406189 NM_016626.4 545 tCt/tTt 0 -MFRP UCSF GRCh37 11 119215654 119215654 + synonymous_variant,NMD_transcript_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 6 24 0 ENST00000530681.1:c.702C>T p.Val234= p.V234= ENST00000530681 234 gtC/gtT 0 -MGA UCSF GRCh37 15 42041421 42041421 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 227 176 332 0 ENST00000219905.7:c.5616G>A p.Gly1872= p.G1872= ENST00000219905 NM_001164273.1 1872 ggG/ggA 0 -MGMT UCSF GRCh37 10 131506280 131506280 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 87 173 0 ENST00000306010.7:c.340G>A p.Ala114Thr p.A114T ENST00000306010 NM_002412.3 114 Gct/Act 0 -MGRN1 UCSF GRCh37 16 4732837 4732837 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 15 51 0 ENST00000262370.7:c.1372C>T p.Pro458Ser p.P458S ENST00000262370 NM_015246.3 458 Ccg/Tcg 0 -MGRN1 UCSF GRCh37 16 4730053 4730053 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 45 103 0 ENST00000262370.7:c.1086G>A p.Lys362= p.K362= ENST00000262370 NM_015246.3 362 aaG/aaA 0 -MGST1 UCSF GRCh37 12 16510545 16510545 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 41 106 0 ENST00000396209.1:c.133G>A p.Ala45Thr p.A45T ENST00000396209 NM_145791.2 45 Gcc/Acc 0 -MIA3 UCSF GRCh37 1 222826618 222826618 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 72 164 0 ENST00000344922.5:c.4258G>A p.Glu1420Lys p.E1420K ENST00000344922 NM_198551.2 1420 Gaa/Aaa 0 -MIA3 UCSF GRCh37 1 222802863 222802863 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 69 168 0 ENST00000344922.5:c.2301G>A p.Gly767= p.G767= ENST00000344922 NM_198551.2 767 ggG/ggA 0 -MID2 UCSF GRCh37 X 107084129 107084129 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 24 111 120 0 ENST00000262843.6:c.234C>T p.Thr78= p.T78= ENST00000262843 NM_052817.2 78 acC/acT 0 -MIER1 UCSF GRCh37 1 67396083 67396083 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 17 39 0 ENST00000401041.1:c.168+4158G>A *56* ENST00000401041 NM_001077700.2 0 -MIER2 UCSF GRCh37 19 327170 327170 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 103 187 0 ENST00000264819.4:c.456C>T p.Ser152= p.S152= ENST00000264819 NM_017550.1 152 tcC/tcT 0 -MKI67 UCSF GRCh37 10 129911709 129911709 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 150 89 219 0 ENST00000368654.3:c.1638C>T p.Val546= p.V546= ENST00000368654 NM_002417.4 546 gtC/gtT 0 -MKL2 UCSF GRCh37 16 14340383 14340383 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 154 73 141 0 ENST00000318282.5:c.1266C>T p.Thr422= p.T422= ENST00000318282 422 acC/acT 0 -MLL UCSF GRCh37 11 118360597 118360597 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 85 141 0 ENST00000534358.1:c.4570G>A p.Val1524Ile p.V1524I ENST00000534358 NM_005933.3 1524 Gtc/Atc 0 -MLL2 UCSF GRCh37 12 49431402 49431402 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 9 32 60 0 ENST00000301067.7:c.9737C>T p.Pro3246Leu p.P3246L ENST00000301067 NM_003482.3 3246 cCc/cTc 0 -MLL2 UCSF GRCh37 12 49431257 49431257 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 25 78 0 ENST00000301067.7:c.9882C>T p.Ala3294= p.A3294= ENST00000301067 NM_003482.3 3294 gcC/gcT 0 -MLL3 UCSF GRCh37 7 151875061 151875061 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 76 45 119 0 ENST00000262189.6:c.7477C>T p.Pro2493Ser p.P2493S ENST00000262189 NM_170606.2 2493 Ccg/Tcg 0 -MLL4 UCSF GRCh37 19 36218834 36218834 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 17 21 0 ENST00000222270.7:c.4445G>A p.Gly1482Glu p.G1482E ENST00000222270 NM_014727.1 1482 gGa/gAa 0 -MLL4 UCSF GRCh37 19 36220182 36220182 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 25 50 0 ENST00000222270.7:c.4902C>T p.Ala1634= p.A1634= ENST00000222270 NM_014727.1 1634 gcC/gcT 0 -MLL4 UCSF GRCh37 19 36221731 36221731 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 37 20 76 0 ENST00000222270.7:c.5400G>A p.Glu1800= p.E1800= ENST00000222270 NM_014727.1 1800 gaG/gaA 0 -MLLT10 UCSF GRCh37 10 21827796 21827796 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.300,1000g2011may_all_0.31727,snp132_rs1802669 P18_Rec Untested WXS Illumina HiSeq 194 83 148 0 ENST00000307729.7:c.195G>A p.Pro65= p.P65= ENST00000307729 65 ccG/ccA 0 -MLPH UCSF GRCh37 2 238419422 238419422 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 18 74 0 ENST00000264605.3:c.316C>T p.Pro106Ser p.P106S ENST00000264605 NM_024101.6 106 Ccc/Tcc 0 -MMAA UCSF GRCh37 4 146567273 146567273 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 156 110 248 0 ENST00000281317.5:c.698G>A p.Gly233Glu p.G233E ENST00000281317 NM_172250.2 233 gGa/gAa 0 -MMACHC UCSF GRCh37 1 45974779 45974779 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 124 222 0 ENST00000401061.4:c.741C>T p.Ser247= p.S247= ENST00000401061 NM_015506.2 247 tcC/tcT 0 -MME UCSF GRCh37 3 154884718 154884718 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 121 200 0 ENST00000460393.1:c.1688C>T p.Pro563Leu p.P563L ENST00000460393 NM_007287.2 563 cCc/cTc 0 -MMP24 UCSF GRCh37 20 33842359 33842359 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 227 191 363 0 ENST00000246186.6:c.619C>T p.Pro207Ser p.P207S ENST00000246186 NM_006690.3 207 Cca/Tca 0 -MMP7 UCSF GRCh37 11 102398543 102398543 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 97 237 0 ENST00000260227.4:c.280G>A p.Glu94Lys p.E94K ENST00000260227 NM_002423.3 94 Gaa/Aaa 0 -MMP8 UCSF GRCh37 11 102584500 102584500 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 170 101 250 0 ENST00000236826.3:c.1279G>A p.Val427Ile p.V427I ENST00000236826 NM_002424.2 427 Gtt/Att 0 -MOGAT3 UCSF GRCh37 7 100841566 100841566 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 33 57 0 ENST00000223114.4:c.574G>A p.Gly192Arg p.G192R ENST00000223114 NM_178176.2 192 Ggg/Agg 0 -MORN4 UCSF GRCh37 10 99379358 99379358 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 122 111 232 0 ENST00000307450.6:c.53G>A p.Gly18Asp p.G18D ENST00000307450 NM_178832.3 18 gGc/gAc 0 -MORN5 UCSF GRCh37 9 124922265 124922265 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 49 152 0 ENST00000373764.3:c.14G>A p.Gly5Glu p.G5E ENST00000373764 NM_198469.2 5 gGg/gAg 0 -MOSC1 UCSF GRCh37 1 220971342 220971342 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.00182 P18_Rec somatic WXS Sanger Illumina HiSeq 196 167 298 0 ENST00000366910.5:c.739G>A p.Asp247Asn p.D247N ENST00000366910 NM_022746.3 247 Gat/Aat 0 -MPDZ UCSF GRCh37 9 13110053 13110053 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 24 119 210 0 ENST00000541718.1:c.5753G>A p.Gly1918Glu p.G1918E ENST00000541718 NM_001261407.1 1918 gGa/gAa 0 -MPO UCSF GRCh37 17 56350997 56350997 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 77 162 0 ENST00000225275.3:c.1399C>T p.Leu467= p.L467= ENST00000225275 NM_000250.1 467 Ctg/Ttg 0 -MRFAP1 UCSF GRCh37 4 6642626 6642626 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 102 166 0 ENST00000320912.4:c.37G>A p.Glu13Lys p.E13K ENST00000320912 NM_001272053.1 13 Gag/Aag 0 -MRPL14 UCSF GRCh37 6 44084277 44084277 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 155 112 234 0 ENST00000372014.3:c.71+1G>A p.X24_splice ENST00000372014 NM_032111.2 0 -MRPL34 UCSF GRCh37 19 17417154 17417154 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 6 25 0 ENST00000252602.1:c.245G>A p.Arg82Gln p.R82Q ENST00000252602 NM_023937.3 82 cGa/cAa 0 -MRPL36 UCSF GRCh37 5 1798955 1798955 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 39 123 0 ENST00000508987.1:c.95G>A p.Gly32Glu p.G32E ENST00000508987 32 gGa/gAa 0 -MRPL52 UCSF GRCh37 14 23299290 23299290 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 35 76 0 ENST00000355151.5:c.60C>T p.Ala20= p.A20= ENST00000355151 NM_181306.2 20 gcC/gcT 0 -MRPL9 UCSF GRCh37 1 151732528 151732528 + stop_lost Nonstop_Mutation SNP A A T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 52 104 0 ENST00000368830.3:c.802T>A p.Ter268LysextTer23 p.*268Kext*23 ENST00000368830 NM_031420.2 268 Taa/Aaa 0 -MRPS16 UCSF GRCh37 10 75011752 75011752 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 34 59 0 ENST00000372945.3:c.43G>A p.Gly15Ser p.G15S ENST00000372945 NM_016065.3 15 Ggc/Agc 0 -MRPS18B UCSF GRCh37 6 30593558 30593558 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 66 132 0 ENST00000259873.4:c.761C>T p.Pro254Leu p.P254L ENST00000259873 NM_014046.3 254 cCt/cTt 0 -MRPS18B UCSF GRCh37 6 30587270 30587270 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 68 120 0 ENST00000259873.4:c.79G>A p.Val27Ile p.V27I ENST00000259873 NM_014046.3 27 Gtt/Att 0 -MRPS5 UCSF GRCh37 2 95773982 95773982 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 78 158 0 ENST00000272418.2:c.575G>A p.Gly192Glu p.G192E ENST00000272418 NM_031902.3 192 gGa/gAa 0 -MS4A6E UCSF GRCh37 11 60105419 60105419 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 47 137 0 ENST00000300182.4:c.353C>T p.Ala118Val p.A118V ENST00000300182 NM_139249.2 118 gCt/gTt 0 -MSH2 UCSF GRCh37 2 47709944 47709944 + synonymous_variant Silent SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 16 56 125 0 ENST00000233146.2:c.2661C>T p.Phe887= p.F887= ENST00000233146 NM_000251.2 887 ttC/ttT 0 -MSH3 UCSF GRCh37 5 79974745 79974745 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 159 94 193 0 ENST00000265081.6:c.1174-1G>A p.X392_splice ENST00000265081 NM_002439.4 0 -MSH5 UCSF GRCh37 6 31713013 31713013 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 72 53 118 0 ENST00000375703.3:c.684-1G>A p.X228_splice ENST00000375703 0 -MSLNL UCSF GRCh37 16 830474 830474 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 203 75 196 0 ENST00000293892.3:c.527C>T p.Pro176Leu p.P176L ENST00000293892 176 cCt/cTt 0 -MST4 UCSF GRCh37 X 131206346 131206346 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 14 44 63 0 ENST00000394334.2:c.983C>T p.Thr328Ile p.T328I ENST00000394334 NM_016542.3 328 aCc/aTc 0 -MTA1 UCSF GRCh37 14 105927194 105927194 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 51 31 60 0 ENST00000331320.7:c.846G>A p.Arg282= p.R282= ENST00000331320 NM_004689.3 282 agG/agA 0 -MTA2 UCSF GRCh37 11 62361989 62361989 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 84 183 0 ENST00000278823.2:c.1691C>T p.Thr564Ile p.T564I ENST00000278823 NM_004739.3 564 aCt/aTt 0 -MTF1 UCSF GRCh37 1 38280883 38280883 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 65 138 0 ENST00000373036.4:c.2187G>A p.Pro729= p.P729= ENST00000373036 NM_005955.2 729 ccG/ccA 0 -MTL5 UCSF GRCh37 11 68518092 68518092 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 5 22 0 ENST00000255087.5:c.37C>T p.Pro13Ser p.P13S ENST00000255087 NM_004923.3 13 Ccc/Tcc 0 -MTMR3 UCSF GRCh37 22 30394841 30394841 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 0 25 44 0 ENST00000401950.2:c.552G>A p.Lys184= p.K184= ENST00000401950 NM_021090.3 184 aaG/aaA 0 -MTR UCSF GRCh37 1 237001873 237001873 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 75 153 0 ENST00000366577.5:c.1489G>A p.Val497Ile p.V497I ENST00000366577 NM_000254.2 497 Gtc/Atc 0 -MTSS1L UCSF GRCh37 16 70698214 70698214 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 13 16 0 ENST00000338779.6:c.1610C>T p.Ala537Val p.A537V ENST00000338779 NM_138383.2 537 gCc/gTc 0 -MTSS1L UCSF GRCh37 16 70698015 70698015 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 8 19 0 ENST00000338779.6:c.1809C>T p.Gly603= p.G603= ENST00000338779 NM_138383.2 603 ggC/ggT 0 -MTUS1 UCSF GRCh37 8 17612340 17612340 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 193 121 283 0 ENST00000262102.6:c.977G>A p.Ser326Asn p.S326N ENST00000262102 NM_001001924.2 326 aGc/aAc 0 -MTUS1 UCSF GRCh37 8 17612346 17612346 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 197 117 273 0 ENST00000262102.6:c.971C>T p.Ser324Leu p.S324L ENST00000262102 NM_001001924.2 324 tCa/tTa 0 -MTX2 UCSF GRCh37 2 177193039 177193039 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 146 110 193 0 ENST00000249442.6:c.304G>A p.Gly102Arg p.G102R ENST00000249442 NM_006554.4 102 Ggg/Agg 0 -MUC12 UCSF GRCh37 7 100644479 100644479 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 351 160 480 0 ENST00000536621.1:c.10635G>A p.Gln3545= p.Q3545= ENST00000536621 NM_001164462.1 3545 caG/caA 0 -MUC13 UCSF GRCh37 3 124646780 124646780 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 127 95 189 0 ENST00000311075.3:c.110G>A p.Gly37Asp p.G37D ENST00000311075 NM_033049.3 37 gGt/gAt 0 -MUC13 UCSF GRCh37 3 124646678 124646678 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 203 155 301 0 ENST00000311075.3:c.212C>T p.Pro71Leu p.P71L ENST00000311075 NM_033049.3 71 cCc/cTc 0 -MUC16 UCSF GRCh37 19 8993478 8993478 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 143 106 219 0 ENST00000397910.4:c.41611C>T p.Pro13871Ser p.P13871S ENST00000397910 NM_024690.2 13871 Cct/Tct 0 -MUC16 UCSF GRCh37 19 9049298 9049298 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 244 185 382 0 ENST00000397910.4:c.32333C>T p.Ser10778Leu p.S10778L ENST00000397910 NM_024690.2 10778 tCg/tTg 0 -MUC16 UCSF GRCh37 19 9061560 9061560 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.024,1000g2011may_all_0.0668,snp132_rs56807558 P18_Rec Untested WXS Illumina HiSeq 212 49 324 0 ENST00000397910.4:c.25886C>T p.Thr8629Met p.T8629M ENST00000397910 NM_024690.2 8629 aCg/aTg 0 -MUC16 UCSF GRCh37 19 9066635 9066635 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 247 194 388 0 ENST00000397910.4:c.20811G>A p.Glu6937= p.E6937= ENST00000397910 NM_024690.2 6937 gaG/gaA 0 -MUC16 UCSF GRCh37 19 9061022 9061022 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 223 145 306 0 ENST00000397910.4:c.26424C>T p.Ser8808= p.S8808= ENST00000397910 NM_024690.2 8808 agC/agT 0 -MUC16 UCSF GRCh37 19 9066128 9066128 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 166 127 290 0 ENST00000397910.4:c.21318C>T p.Thr7106= p.T7106= ENST00000397910 NM_024690.2 7106 acC/acT 0 -MUC17 UCSF GRCh37 7 100696713 100696713 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 24 80 0 ENST00000306151.4:c.13359C>T p.Cys4453= p.C4453= ENST00000306151 NM_001040105.1 4453 tgC/tgT 0 -MUC17 UCSF GRCh37 7 100678195 100678195 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 257 176 371 0 ENST00000306151.4:c.3498T>C p.Pro1166= p.P1166= ENST00000306151 NM_001040105.1 1166 ccT/ccC 0 -MUC4 UCSF GRCh37 3 195513137 195513137 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 694 100 828 0 ENST00000463781.3:c.5314G>A p.Ala1772Thr p.A1772T ENST00000463781 NM_018406.6 1772 Gct/Act 0 -MUC4 UCSF GRCh37 3 195513194 195513194 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 451 167 617 0 ENST00000463781.3:c.5257G>A p.Ala1753Thr p.A1753T ENST00000463781 NM_018406.6 1753 Gca/Aca 0 -MVP UCSF GRCh37 16 29856151 29856151 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 77 149 0 ENST00000357402.5:c.1972G>A p.Val658Ile p.V658I ENST00000357402 NM_017458.3 658 Gtc/Atc 0 -MVP UCSF GRCh37 16 29842379 29842379 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 19 43 0 ENST00000357402.5:c.306G>A p.Gly102= p.G102= ENST00000357402 NM_017458.3 102 ggG/ggA 0 -MYBBP1A UCSF GRCh37 17 4455460 4455460 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 53 104 0 ENST00000381556.2:c.865G>A p.Val289Met p.V289M ENST00000381556 NM_014520.3 289 Gtg/Atg 0 -MYBPC1 UCSF GRCh37 12 102036311 102036311 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 30 54 0 ENST00000452455.2:c.705C>T p.Arg235= p.R235= ENST00000452455 NM_001254718.1 235 cgC/cgT 0 -MYBPC2 UCSF GRCh37 19 50944141 50944141 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 26 55 0 ENST00000357701.5:c.577G>A p.Val193Met p.V193M ENST00000357701 NM_004533.3 193 Gtg/Atg 0 -MYCBP2 UCSF GRCh37 13 77635855 77635855 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 30 112 0 ENST00000544440.2:c.12731G>A p.Cys4244Tyr p.C4244Y ENST00000544440 4244 tGt/tAt 0 -MYCBP2 UCSF GRCh37 13 77669565 77669565 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 58 137 0 ENST00000544440.2:c.10013C>T p.Pro3338Leu p.P3338L ENST00000544440 3338 cCc/cTc 0 -MYCBP2 UCSF GRCh37 13 77763129 77763129 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 55 178 0 ENST00000544440.2:c.4094C>T p.Pro1365Leu p.P1365L ENST00000544440 1365 cCt/cTt 0 -MYH10 UCSF GRCh37 17 8381764 8381764 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 47 133 0 ENST00000360416.3:c.5598G>A p.Lys1866= p.K1866= ENST00000360416 NM_001256012.1 1866 aaG/aaA 0 -MYH13 UCSF GRCh37 17 10231375 10231375 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 68 163 0 ENST00000418404.3:c.2499G>A p.Trp833Ter p.W833* ENST00000418404 833 tgG/tgA 0 -MYH13 UCSF GRCh37 17 10212743 10212743 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 18 21 34 0 ENST00000418404.3:c.4977G>A p.Leu1659= p.L1659= ENST00000418404 1659 ctG/ctA 0 -MYH15 UCSF GRCh37 3 108156540 108156540 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 142 106 246 0 ENST00000273353.3:c.3142G>A p.Gly1048Ser p.G1048S ENST00000273353 NM_014981.1 1048 Ggt/Agt 0 -MYH2 UCSF GRCh37 17 10447245 10447245 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 174 124 272 0 ENST00000245503.5:c.622G>A p.Glu208Lys p.E208K ENST00000245503 NM_017534.5 208 Gaa/Aaa 0 -MYH3 UCSF GRCh37 17 10533424 10533424 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 181 120 253 0 ENST00000583535.1:c.5547G>A p.Lys1849= p.K1849= ENST00000583535 NM_002470.3 1849 aaG/aaA 0 -MYH4 UCSF GRCh37 17 10353882 10353882 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 106 90 168 1 ENST00000255381.2:c.4069G>A p.Ala1357Thr p.A1357T ENST00000255381 NM_017533.2 1357 Gcc/Acc 0 -MYH4 UCSF GRCh37 17 10355605 10355605 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 90 205 0 ENST00000255381.2:c.3391G>A p.Ala1131Thr p.A1131T ENST00000255381 NM_017533.2 1131 Gcc/Acc 0 -MYH4 UCSF GRCh37 17 10348301 10348301 + stop_gained Nonsense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 145 113 226 0 ENST00000255381.2:c.5458G>T p.Glu1820Ter p.E1820* ENST00000255381 NM_017533.2 1820 Gag/Tag 0 -MYH6 UCSF GRCh37 14 23868031 23868031 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 77 162 0 ENST00000405093.3:c.1797G>A p.Lys599= p.K599= ENST00000405093 NM_002471.3 599 aaG/aaA 0 -MYH9 UCSF GRCh37 22 36684872 36684872 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 82 170 0 ENST00000216181.5:c.4671G>A p.Arg1557= p.R1557= ENST00000216181 NM_002473.4 1557 cgG/cgA 0 -MYL1 UCSF GRCh37 2 211163168 211163168 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 113 65 179 0 ENST00000352451.3:c.280G>T p.Val94Phe p.V94F ENST00000352451 NM_079420.2 94 Gtt/Ttt 0 -MYL12B UCSF GRCh37 18 3277370 3277370 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 138 123 194 0 ENST00000581193.1:c.304G>A p.Val102Ile p.V102I ENST00000581193 NM_001144945.1 102 Gtc/Atc 0 -MYLK UCSF GRCh37 3 123383000 123383000 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 135 84 220 0 ENST00000360304.3:c.3937G>A p.Glu1313Lys p.E1313K ENST00000360304 NM_053025.3 1313 Gag/Aag 0 -MYO18A UCSF GRCh37 17 27417083 27417083 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 47 153 0 ENST00000527372.1:c.5422G>A p.Glu1808Lys p.E1808K ENST00000527372 NM_078471.3 1808 Gag/Aag 0 -MYO1F UCSF GRCh37 19 8616672 8616672 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 70 132 0 ENST00000338257.8:c.723C>T p.Thr241= p.T241= ENST00000338257 NM_012335.3 241 acC/acT 0 -MYO5C UCSF GRCh37 15 52548869 52548869 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 95 214 0 ENST00000261839.7:c.1362C>T p.Tyr454= p.Y454= ENST00000261839 NM_018728.3 454 taC/taT 0 -MYO9A UCSF GRCh37 15 72190819 72190819 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 129 252 0 ENST00000356056.5:c.4025G>A p.Ser1342Asn p.S1342N ENST00000356056 NM_006901.3 1342 aGc/aAc 0 -MYO9B UCSF GRCh37 19 17273863 17273863 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 64 55 103 0 ENST00000595618.1:c.1602G>A p.Gln534= p.Q534= ENST00000595618 NM_001130065.1 534 caG/caA 0 -MYOC UCSF GRCh37 1 171605628 171605628 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 115 82 160 0 ENST00000037502.6:c.952C>T p.Leu318= p.L318= ENST00000037502 NM_000261.1 318 Ctg/Ttg 0 -MYOF UCSF GRCh37 10 95097607 95097607 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 159 85 232 0 ENST00000359263.4:c.4402G>A p.Gly1468Arg p.G1468R ENST00000359263 NM_013451.3 1468 Gga/Aga 0 -MYOF UCSF GRCh37 10 95069906 95069906 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 56 109 0 ENST00000359263.4:c.6018C>T p.Phe2006= p.F2006= ENST00000359263 NM_013451.3 2006 ttC/ttT 0 -MYOM1 UCSF GRCh37 18 3188831 3188831 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 62 151 0 ENST00000356443.4:c.686C>T p.Ala229Val p.A229V ENST00000356443 NM_019856.1 229 gCt/gTt 0 -MYOM1 UCSF GRCh37 18 3151867 3151867 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 165 97 251 0 ENST00000356443.4:c.1668G>A p.Trp556Ter p.W556* ENST00000356443 NM_019856.1 556 tgG/tgA 0 -MYOM1 UCSF GRCh37 18 3215153 3215153 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 37 107 0 ENST00000356443.4:c.69C>T p.Arg23= p.R23= ENST00000356443 NM_019856.1 23 cgC/cgT 0 -MYOZ3 UCSF GRCh37 5 150056363 150056363 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 86 63 177 0 ENST00000297130.4:c.682C>T p.Leu228Phe p.L228F ENST00000297130 NM_133371.4 228 Ctc/Ttc 0 -MYT1 UCSF GRCh37 20 62839012 62839012 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 74 151 0 ENST00000328439.1:c.463G>A p.Gly155Ser p.G155S ENST00000328439 NM_004535.2 155 Ggc/Agc 0 -MYT1L UCSF GRCh37 2 1796216 1796216 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 46 98 0 ENST00000428368.2:c.3291C>T p.Asn1097= p.N1097= ENST00000428368 1097 aaC/aaT 0 -MZF1 UCSF GRCh37 19 59074195 59074195 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 6 9 12 0 ENST00000215057.2:c.1449C>T p.Gly483= p.G483= ENST00000215057 NM_001267033.1 483 ggC/ggT 0 -N4BP2 UCSF GRCh37 4 40103856 40103856 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 157 119 289 0 ENST00000261435.6:c.391G>A p.Asp131Asn p.D131N ENST00000261435 NM_018177.4 131 Gat/Aat 0 -N4BP2 UCSF GRCh37 4 40119559 40119559 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 73 174 0 ENST00000261435.6:c.1735G>A p.Val579Met p.V579M ENST00000261435 NM_018177.4 579 Gtg/Atg 0 -NAA16 UCSF GRCh37 13 41894911 41894911 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 42 150 0 ENST00000379406.3:c.353G>A p.Arg118Lys p.R118K ENST00000379406 NM_024561.4 118 aGg/aAg 0 -NAA35 UCSF GRCh37 9 88593224 88593224 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 130 300 0 ENST00000361671.5:c.805G>A p.Ala269Thr p.A269T ENST00000361671 NM_024635.3 269 Gca/Aca 0 -NACAD UCSF GRCh37 7 45124894 45124894 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 6 13 0 ENST00000490531.2:c.885C>T p.Phe295= p.F295= ENST00000490531 NM_001146334.1 295 ttC/ttT 0 -NADSYN1 UCSF GRCh37 11 71183505 71183505 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 50 108 0 ENST00000319023.2:c.418G>A p.Glu140Lys p.E140K ENST00000319023 NM_018161.4 140 Gag/Aag 0 -NAPSA UCSF GRCh37 19 50861859 50861859 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 24 35 0 ENST00000253719.2:c.1214G>A p.Gly405Glu p.G405E ENST00000253719 NM_004851.1 405 gGa/gAa 0 -NASP UCSF GRCh37 1 46073426 46073426 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 40 111 0 ENST00000350030.3:c.843G>A p.Gln281= p.Q281= ENST00000350030 NM_002482.3 281 caG/caA 0 -NAT10 UCSF GRCh37 11 34153694 34153694 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 229 164 358 0 ENST00000257829.3:c.1543C>T p.Leu515Phe p.L515F ENST00000257829 NM_024662.2 515 Ctc/Ttc 0 -NAT8B UCSF GRCh37 2 73928149 73928149 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 168 138 257 0 ENST00000377712.2:n.284C>T *95* ENST00000377712 0 -NBEA UCSF GRCh37 13 35692373 35692373 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 27 84 0 ENST00000400445.3:c.2091G>A p.Gly697= p.G697= ENST00000400445 NM_015678.4 697 ggG/ggA 0 -NBPF14 UCSF GRCh37 1 148015760 148015760 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 256 156 423 0 ENST00000310701.10:c.888G>A p.Val297Ile p.V297I ENST00000310701 297 Gtc/Atc 0 -NBPF7P UCSF GRCh37 1 120382012 120382012 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 156 150 243 0 ENST00000401014.1:n.1254G>A *418* ENST00000401014 0 -NBPF9 UCSF GRCh37 1 144825474 144825474 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 290 146 467 0 ENST00000375552.4:c.1422G>A p.Ala475Thr p.A475T ENST00000375552 NM_001277444.1 475 Gct/Act 0 -NCAPH2 UCSF GRCh37 22 50956631 50956631 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 40 67 0 ENST00000299821.11:c.570G>A p.Gly190= p.G190= ENST00000299821 190 ggG/ggA 0 -NCKAP1L UCSF GRCh37 12 54905614 54905614 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 73 170 0 ENST00000293373.6:c.763G>A p.Val255Ile p.V255I ENST00000293373 NM_005337.4 255 Gta/Ata 0 -NCKAP5 UCSF GRCh37 2 133540839 133540839 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 153 108 264 0 ENST00000409261.1:c.3545C>T p.Ser1182Phe p.S1182F ENST00000409261 NM_207363.2 1182 tCc/tTc 0 -NCKIPSD UCSF GRCh37 3 48717086 48717086 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 62 147 0 ENST00000294129.2:c.1411G>A p.Asp471Asn p.D471N ENST00000294129 NM_016453.3 471 Gat/Aat 0 -NCOA1 UCSF GRCh37 2 24949505 24949505 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 80 155 0 ENST00000406961.1:c.2647C>T p.Pro883Ser p.P883S ENST00000406961 883 Cca/Tca 0 -NCOA2 UCSF GRCh37 8 71069245 71069245 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 110 94 190 0 ENST00000452400.2:c.1355G>A p.Gly452Asp p.G452D ENST00000452400 NM_006540.2 452 gGc/gAc 0 -NCOA3 UCSF GRCh37 20 46264805 46264805 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.018,1000g2011may_all_0.0462,snp132_rs2230781 P18_Rec Untested WXS Illumina HiSeq 107 96 208 0 ENST00000371998.3:c.1675C>T p.Pro559Ser p.P559S ENST00000371998 559 Cca/Tca 0 -NCOR2 UCSF GRCh37 12 124971028 124971028 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 13 29 0 ENST00000405201.1:c.192G>A p.Arg64= p.R64= ENST00000405201 64 cgG/cgA 0 -NCR1 UCSF GRCh37 19 55420876 55420876 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 50 106 0 ENST00000291890.4:c.628G>A p.Val210Ile p.V210I ENST00000291890 NM_004829.6 210 Gtc/Atc 0 -NDC80 UCSF GRCh37 18 2574999 2574999 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 52 113 0 ENST00000261597.4:c.113C>T p.Pro38Leu p.P38L ENST00000261597 NM_006101.2 38 cCa/cTa 0 -NDST1 UCSF GRCh37 5 149901129 149901129 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 72 156 0 ENST00000261797.6:c.313G>A p.Glu105Lys p.E105K ENST00000261797 NM_001543.4 105 Gag/Aag 0 -NDST4 UCSF GRCh37 4 115769441 115769441 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 83 196 0 ENST00000264363.2:c.1870C>T p.Leu624Phe p.L624F ENST00000264363 NM_022569.1 624 Ctc/Ttc 0 -NDUFS1 UCSF GRCh37 2 207011800 207011800 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 73 178 0 ENST00000455934.2:c.606G>A p.Glu202= p.E202= ENST00000455934 NM_001199984.1 202 gaG/gaA 0 -NDUFS8 UCSF GRCh37 11 67803812 67803812 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 35 48 0 ENST00000313468.5:c.465C>T p.Phe155= p.F155= ENST00000313468 NM_002496.3 155 ttC/ttT 0 -NEB UCSF GRCh37 2 152424671 152424671 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 75 178 0 ENST00000397345.3:c.17758G>A p.Glu5920Lys p.E5920K ENST00000397345 NM_001164508.1 5920 Gag/Aag 0 -NEB UCSF GRCh37 2 152477474 152477474 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 108 185 0 ENST00000397345.3:c.10519C>T p.Pro3507Ser p.P3507S ENST00000397345 NM_001164508.1 3507 Ccc/Tcc 0 -NEB UCSF GRCh37 2 152424833 152424833 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 89 174 0 ENST00000397345.3:c.17733C>T p.Asp5911= p.D5911= ENST00000397345 NM_001164508.1 5911 gaC/gaT 0 -NEB UCSF GRCh37 2 152468757 152468757 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 168 104 258 0 ENST00000397345.3:c.11748C>T p.Cys3916= p.C3916= ENST00000397345 NM_001164508.1 3916 tgC/tgT 0 -NEBL UCSF GRCh37 10 21134283 21134283 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 111 43 97 0 ENST00000377122.4:c.1131G>A p.Glu377= p.E377= ENST00000377122 NM_006393.2 377 gaG/gaA 0 -NECAB2 UCSF GRCh37 16 84005771 84005771 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 37 41 88 0 ENST00000305202.4:c.217G>A p.Asp73Asn p.D73N ENST00000305202 NM_019065.2 73 Gac/Aac 0 -NEO1 UCSF GRCh37 15 73528829 73528829 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 98 220 0 ENST00000339362.5:c.1433C>T p.Thr478Ile p.T478I ENST00000339362 478 aCc/aTc 0 -NETO1 UCSF GRCh37 18 70450940 70450940 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 105 189 0 ENST00000327305.6:c.841C>T p.Gln281Ter p.Q281* ENST00000327305 NM_138966.3 281 Cag/Tag 0 -NEURL4 UCSF GRCh37 17 7220873 7220873 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 69 52 111 0 ENST00000399464.2:c.4225G>A p.Ala1409Thr p.A1409T ENST00000399464 NM_032442.2 1409 Gct/Act 0 -NF1 UCSF GRCh37 17 29587442 29587442 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 182 98 247 0 ENST00000358273.4:c.4486C>T p.Leu1496Phe p.L1496F ENST00000358273 NM_001042492.2 1496 Ctt/Ttt 0 -NF1 UCSF GRCh37 17 29661958 29661958 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 124 73 159 0 ENST00000358273.4:c.5915C>T p.Thr1972Ile p.T1972I ENST00000358273 NM_001042492.2 1972 aCt/aTt 0 -NFATC2IP UCSF GRCh37 16 28965910 28965910 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 271 105 241 0 ENST00000320805.4:c.485G>A p.Gly162Asp p.G162D ENST00000320805 NM_032815.3 162 gGt/gAt 0 -NFIX UCSF GRCh37 19 13192670 13192670 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 35 74 0 ENST00000397661.2:c.1254+1G>A p.X418_splice ENST00000397661 NM_002501.2 0 -NFIX UCSF GRCh37 19 13136017 13136017 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 67 162 0 ENST00000397661.2:c.210G>A p.Lys70= p.K70= ENST00000397661 NM_002501.2 70 aaG/aaA 0 -NGEF UCSF GRCh37 2 233748155 233748155 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 10 36 0 ENST00000264051.3:c.1623C>T p.Asp541= p.D541= ENST00000264051 NM_019850.2 541 gaC/gaT 0 -NGEF UCSF GRCh37 2 233839466 233839466 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 153 137 246 0 ENST00000264051.3:c.135C>T p.Asp45= p.D45= ENST00000264051 NM_019850.2 45 gaC/gaT 0 -NHSL1 UCSF GRCh37 6 138752305 138752305 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 38 93 0 ENST00000427025.2:c.3189G>A p.Glu1063= p.E1063= ENST00000427025 NM_020464.1 1063 gaG/gaA 0 -NID2 UCSF GRCh37 14 52527059 52527059 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 32 53 0 ENST00000216286.5:c.550G>A p.Ala184Thr p.A184T ENST00000216286 NM_007361.3 184 Gca/Aca 0 -NIPSNAP1 UCSF GRCh37 22 29966495 29966495 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 23 63 0 ENST00000216121.7:c.125G>A p.Ser42Asn p.S42N ENST00000216121 NM_001202502.1 42 aGc/aAc 0 -NISCH UCSF GRCh37 3 52514312 52514312 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 40 83 0 ENST00000345716.4:c.1528+1G>A p.X510_splice ENST00000345716 NM_007184.3 0 -NLRC5 UCSF GRCh37 16 57111876 57111876 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 16 44 0 ENST00000262510.6:c.5025G>A p.Gly1675= p.G1675= ENST00000262510 NM_032206.4 1675 ggG/ggA 0 -NMUR1 UCSF GRCh37 2 232390053 232390053 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 31 74 0 ENST00000305141.4:c.982G>A p.Asp328Asn p.D328N ENST00000305141 NM_006056.4 328 Gat/Aat 0 -NNT UCSF GRCh37 5 43653298 43653298 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 40 71 0 ENST00000264663.5:c.2042C>T p.Ala681Val p.A681V ENST00000264663 NM_012343.3 681 gCt/gTt 0 -NOD2 UCSF GRCh37 16 50733518 50733518 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 59 136 0 ENST00000300589.2:c.193G>A p.Val65Ile p.V65I ENST00000300589 NM_022162.1 65 Gtc/Atc 0 -NOL11 UCSF GRCh37 17 65720295 65720295 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 70 126 0 ENST00000253247.4:c.650C>T p.Ser217Phe p.S217F ENST00000253247 NM_015462.3 217 tCt/tTt 0 -NOL11 UCSF GRCh37 17 65733707 65733707 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 162 119 267 0 ENST00000253247.4:c.1302G>A p.Gly434= p.G434= ENST00000253247 NM_015462.3 434 ggG/ggA 0 -NOL11 UCSF GRCh37 17 65734319 65734319 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 77 156 0 ENST00000253247.4:c.1611G>A p.Glu537= p.E537= ENST00000253247 NM_015462.3 537 gaG/gaA 0 -NOL8 UCSF GRCh37 9 95060548 95060548 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 39 85 0 ENST00000545558.1:c.3444C>T p.Asn1148= p.N1148= ENST00000545558 1148 aaC/aaT 0 -NOP16 UCSF GRCh37 5 175812280 175812280 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 59 164 0 ENST00000510123.1:c.335C>T p.Ser112Phe p.S112F ENST00000510123 NM_001256539.1 112 tCt/tTt 0 -NOTCH4 UCSF GRCh37 6 32168681 32168681 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 12 45 0 ENST00000375023.3:c.4242G>A p.Ala1414= p.A1414= ENST00000375023 NM_004557.3 1414 gcG/gcA 0 -NOX4 UCSF GRCh37 11 89069061 89069061 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 76 147 0 ENST00000263317.4:c.1568G>A p.Arg523His p.R523H ENST00000263317 523 cGt/cAt 0 -NPEPL1 UCSF GRCh37 20 57276164 57276164 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 28 34 0 ENST00000356091.6:c.772G>A p.Val258Met p.V258M ENST00000356091 NM_024663.3 258 Gtg/Atg 0 -NPEPPS UCSF GRCh37 17 45673785 45673785 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 81 49 134 0 ENST00000322157.4:c.1493C>T p.Thr498Ile p.T498I ENST00000322157 NM_006310.3 498 aCc/aTc 0 -NPFFR2 UCSF GRCh37 4 72897682 72897682 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 42 87 0 ENST00000308744.6:c.64G>A p.Ala22Thr p.A22T ENST00000308744 NM_004885.2 22 Gca/Aca 0 -NPHP3 UCSF GRCh37 3 132435724 132435724 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 79 159 0 ENST00000337331.5:c.700G>A p.Gly234Ser p.G234S ENST00000337331 NM_153240.4 234 Ggc/Agc 0 -NPR1 UCSF GRCh37 1 153660173 153660173 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 121 80 184 0 ENST00000368680.3:c.2156C>T p.Ala719Val p.A719V ENST00000368680 NM_000906.3 719 gCt/gTt 0 -NR2F1 UCSF GRCh37 5 92923623 92923623 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 50 128 0 ENST00000327111.3:c.464C>T p.Ala155Val p.A155V ENST00000327111 NM_005654.4 155 gCg/gTg 0 -NR3C1 UCSF GRCh37 5 142779230 142779230 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 80 192 0 ENST00000231509.3:c.1175G>A p.Gly392Asp p.G392D ENST00000231509 392 gGc/gAc 0 -NR4A1 UCSF GRCh37 12 52449925 52449925 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 9 34 88 0 ENST00000360284.3:c.1027G>A p.Val343Met p.V343M ENST00000360284 NM_001202233.1 343 Gtg/Atg 0 -NR6A1 UCSF GRCh37 9 127302330 127302330 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 154 105 232 0 ENST00000487099.2:c.578G>A p.Gly193Asp p.G193D ENST00000487099 NM_001489.4 193 gGc/gAc 0 -NRF1 UCSF GRCh37 7 129330360 129330360 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 50 128 0 ENST00000393232.1:c.580C>T p.Pro194Ser p.P194S ENST00000393232 NM_005011.3 194 Cca/Tca 0 -NRM UCSF GRCh37 6 30656569 30656569 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 40 92 0 ENST00000259953.4:c.658C>T p.Leu220Phe p.L220F ENST00000259953 NM_007243.2 220 Ctt/Ttt 0 -NRP2 UCSF GRCh37 2 206608113 206608113 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 68 146 0 ENST00000360409.3:c.1478G>A p.Gly493Glu p.G493E ENST00000360409 NM_003872.2 493 gGa/gAa 0 -NRP2 UCSF GRCh37 2 206610533 206610533 + missense_variant Missense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 10 82 0 ENST00000360409.3:c.1705C>A p.Gln569Lys p.Q569K ENST00000360409 NM_003872.2 569 Cag/Aag 0 -NRSN2 UCSF GRCh37 20 334046 334046 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 45 112 0 ENST00000382291.3:c.382G>A p.Val128Ile p.V128I ENST00000382291 NM_024958.2 128 Gtt/Att 0 -NSRP1 UCSF GRCh37 17 28512333 28512333 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 71 129 0 ENST00000247026.5:c.1318C>T p.Arg440Ter p.R440* ENST00000247026 NM_032141.3 440 Cga/Tga 0 -NSUN2 UCSF GRCh37 5 6616964 6616964 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 69 158 0 ENST00000264670.6:c.897G>A p.Gln299= p.Q299= ENST00000264670 NM_017755.5 299 caG/caA 0 -NSUN4 UCSF GRCh37 1 46827324 46827324 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 116 217 0 ENST00000474844.1:c.961G>A p.Val321Met p.V321M ENST00000474844 NM_199044.3 321 Gtg/Atg 0 -NT5DC1 UCSF GRCh37 6 116542237 116542237 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 61 136 0 ENST00000319550.4:c.550C>T p.Pro184Ser p.P184S ENST00000319550 NM_152729.2 184 Cca/Tca 0 -NTF4 UCSF GRCh37 19 49564937 49564937 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 17 50 0 ENST00000301411.3:c.318C>T p.Asp106= p.D106= ENST00000301411 NM_006179.4 106 gaC/gaT 0 -NTN4 UCSF GRCh37 12 96180889 96180889 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 58 161 0 ENST00000343702.4:c.413G>A p.Arg138Lys p.R138K ENST00000343702 NM_021229.3 138 aGg/aAg 0 -NTN5 UCSF GRCh37 19 49173998 49173998 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 19 44 0 ENST00000270235.4:c.246C>T p.Phe82= p.F82= ENST00000270235 NM_145807.1 82 ttC/ttT 0 -NTNG1 UCSF GRCh37 1 107867358 107867358 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 64 150 0 ENST00000370068.1:c.701G>A p.Gly234Glu p.G234E ENST00000370068 234 gGa/gAa 0 -NUDC UCSF GRCh37 1 27268067 27268067 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 36 22 41 0 ENST00000321265.5:c.279G>A p.Lys93= p.K93= ENST00000321265 NM_006600.3 93 aaG/aaA 0 -NUP155 UCSF GRCh37 5 37338020 37338020 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 57 160 0 ENST00000231498.3:c.1247G>A p.Gly416Asp p.G416D ENST00000231498 NM_153485.2 416 gGt/gAt 0 -NUP210 UCSF GRCh37 3 13384708 13384708 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 57 106 0 ENST00000254508.5:c.2931C>T p.Asp977= p.D977= ENST00000254508 NM_024923.3 977 gaC/gaT 0 -NUP210L UCSF GRCh37 1 153974448 153974448 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 57 116 0 ENST00000368559.3:c.4944C>T p.Cys1648= p.C1648= ENST00000368559 NM_207308.2 1648 tgC/tgT 0 -NUP214 UCSF GRCh37 9 134108860 134108860 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 45 102 0 ENST00000359428.5:c.6259G>A p.Gly2087Ser p.G2087S ENST00000359428 NM_005085.3 2087 Ggc/Agc 0 -NUP54 UCSF GRCh37 4 77065364 77065364 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 187 172 336 0 ENST00000264883.3:c.233G>A p.Gly78Asp p.G78D ENST00000264883 NM_001278603.1 78 gGt/gAt 0 -NXF3 UCSF GRCh37 X 102335083 102335083 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 134 153 0 ENST00000395065.3:c.989C>T p.Thr330Ile p.T330I ENST00000395065 NM_022052.1 330 aCc/aTc 0 -OAS2 UCSF GRCh37 12 113446917 113446917 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 141 129 250 0 ENST00000342315.4:c.1921C>T p.Pro641Ser p.P641S ENST00000342315 NM_016817.2 641 Ccc/Tcc 0 -OASL UCSF GRCh37 12 121469348 121469348 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 64 153 0 ENST00000257570.5:c.554G>A p.Gly185Glu p.G185E ENST00000257570 NM_003733.3 185 gGa/gAa 0 -OBSCN UCSF GRCh37 1 228559629 228559629 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 33 61 0 ENST00000570156.2:c.24021C>T p.His8007= p.H8007= ENST00000570156 NM_001271223.2 8007 caC/caT 0 -OCRL UCSF GRCh37 X 128723821 128723821 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 7 79 87 0 ENST00000371113.4:c.2470-1G>A p.X824_splice ENST00000371113 NM_000276.3 0 -ODF2 UCSF GRCh37 9 131262385 131262385 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 76 187 0 ENST00000434106.3:c.2341G>A p.Asp781Asn p.D781N ENST00000434106 NM_153433.1 781 Gat/Aat 0 -ODF3L1 UCSF GRCh37 15 76019491 76019491 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 158 109 206 0 ENST00000332145.2:c.435C>T p.Tyr145= p.Y145= ENST00000332145 NM_175881.3 145 taC/taT 0 -ODF3L2 UCSF GRCh37 19 463984 463984 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 20 36 0 ENST00000315489.4:c.730T>A p.Cys244Ser p.C244S ENST00000315489 NM_182577.2 244 Tgc/Agc 0 -ODZ1 UCSF GRCh37 X 123518169 123518169 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 75 86 0 ENST00000422452.2:c.6612C>T p.Asp2204= p.D2204= ENST00000422452 NM_001163279.1 2204 gaC/gaT 0 -ODZ3 UCSF GRCh37 4 183676192 183676192 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 201 138 331 0 ENST00000511685.1:c.4672G>A p.Asp1558Asn p.D1558N ENST00000511685 1558 Gac/Aac 0 -ODZ4 UCSF GRCh37 11 78523317 78523317 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 22 60 0 ENST00000278550.7:c.1828G>A p.Gly610Ser p.G610S ENST00000278550 NM_001098816.2 610 Ggc/Agc 0 -OGFR UCSF GRCh37 20 61444910 61444910 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 32 85 0 ENST00000290291.6:c.1943G>A p.Gly648Glu p.G648E ENST00000290291 NM_007346.2 648 gGa/gAa 0 -OPLAH UCSF GRCh37 8 145114911 145114911 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 14 52 0 ENST00000426825.1:c.25C>T p.His9Tyr p.H9Y ENST00000426825 NM_017570.3 9 Cac/Tac 0 -OPRM1 UCSF GRCh37 6 154412611 154412611 + splice_region_variant,intron_variant Splice_Region SNP C C T snp132_rs79668187 P18_Rec Untested WXS Illumina HiSeq 68 45 107 0 ENST00000434900.2:c.1443+4C>T p.X481_splice ENST00000434900 NM_001145279.2 0 -OPTN UCSF GRCh37 10 13152332 13152332 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 197 67 152 0 ENST00000378748.3:c.225G>A p.Trp75Ter p.W75* ENST00000378748 NM_001008211.1 75 tgG/tgA 0 -OR10G3 UCSF GRCh37 14 22038246 22038246 + synonymous_variant Silent SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 125 94 195 0 ENST00000303532.1:c.630T>C p.Ser210= p.S210= ENST00000303532 NM_001005465.1 210 agT/agC 0 -OR10H4 UCSF GRCh37 19 16059991 16059991 + synonymous_variant Silent SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 247 156 320 0 ENST00000322107.1:c.174A>G p.Thr58= p.T58= ENST00000322107 NM_001004465.1 58 acA/acG 0 -OR13C5 UCSF GRCh37 9 107361276 107361276 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 151 121 267 0 ENST00000374779.2:c.419C>T p.Ala140Val p.A140V ENST00000374779 NM_001004482.1 140 gCc/gTc 0 -OR1E1 UCSF GRCh37 17 3301584 3301584 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 130 81 228 0 ENST00000322608.2:c.121G>A p.Gly41Arg p.G41R ENST00000322608 NM_003553.2 41 Ggg/Agg 0 -OR1K1 UCSF GRCh37 9 125563103 125563103 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 53 116 0 ENST00000277309.2:c.702G>A p.Gly234= p.G234= ENST00000277309 NM_080859.1 234 ggG/ggA 0 -OR2A7 UCSF GRCh37 7 143955843 143955843 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Rec Untested WXS Illumina HiSeq 379 76 777 0 ENST00000493325.1:c.879C>A p.Asn293Lys p.N293K ENST00000493325 NM_001005328.1 293 aaC/aaA 0 -OR2B3 UCSF GRCh37 6 29054995 29054995 + stop_gained Nonsense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 59 104 0 ENST00000377173.2:c.31G>T p.Glu11Ter p.E11* ENST00000377173 NM_001005226.2 11 Gag/Tag 0 -OR2G2 UCSF GRCh37 1 247752168 247752168 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 154 113 201 0 ENST00000320065.1:c.507G>A p.Leu169= p.L169= ENST00000320065 NM_001001915.1 169 ctG/ctA 0 -OR2G3 UCSF GRCh37 1 247769095 247769095 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 215 167 345 0 ENST00000320002.2:c.208G>A p.Asp70Asn p.D70N ENST00000320002 NM_001001914.1 70 Gac/Aac 0 -OR2M7 UCSF GRCh37 1 248487743 248487743 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 197 166 324 0 ENST00000317965.2:c.128C>T p.Ser43Phe p.S43F ENST00000317965 NM_001004691.1 43 tCc/tTc 0 -OR2T27 UCSF GRCh37 1 248813649 248813649 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 32 108 0 ENST00000344889.3:c.537C>T p.Cys179= p.C179= ENST00000344889 NM_001001824.1 179 tgC/tgT 0 -OR4F6 UCSF GRCh37 15 102346758 102346758 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 72 150 0 ENST00000328882.4:c.836C>T p.Thr279Ile p.T279I ENST00000328882 NM_001005326.1 279 aCt/aTt 0 -OR4S2 UCSF GRCh37 11 55418984 55418984 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 169 131 251 0 ENST00000312422.2:c.605G>A p.Gly202Asp p.G202D ENST00000312422 NM_001004059.2 202 gGt/gAt 0 -OR51F1 UCSF GRCh37 11 4790433 4790433 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 101 232 0 ENST00000343430.3:c.715G>A p.Val239Ile p.V239I ENST00000343430 NM_001004752.1 239 Gtc/Atc 0 -OR51I1 UCSF GRCh37 11 5462162 5462162 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 39 119 0 ENST00000380211.1:c.583C>T p.His195Tyr p.H195Y ENST00000380211 NM_001005288.2 195 Cat/Tat 0 -OR56B1 UCSF GRCh37 11 5758081 5758081 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 71 125 0 ENST00000317121.3:c.335C>T p.Ala112Val p.A112V ENST00000317121 NM_001005180.2 112 gCc/gTc 0 -OR5B17 UCSF GRCh37 11 58125703 58125703 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 97 221 0 ENST00000357377.3:c.840C>T p.Ile280= p.I280= ENST00000357377 NM_001005489.1 280 atC/atT 0 -OR5B3 UCSF GRCh37 11 58170526 58170526 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 162 106 248 0 ENST00000309403.2:c.357C>T p.Asp119= p.D119= ENST00000309403 NM_001005469.1 119 gaC/gaT 0 -OR5D14 UCSF GRCh37 11 55563678 55563678 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 185 110 252 0 ENST00000335605.1:c.647T>C p.Ile216Thr p.I216T ENST00000335605 NM_001004735.1 216 aTc/aCc 0 -OR5M10 UCSF GRCh37 11 56344312 56344312 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 230 161 343 0 ENST00000526812.2:c.886G>A p.Asp296Asn p.D296N ENST00000526812 NM_001004741.1 296 Gat/Aat 0 -OR5M9 UCSF GRCh37 11 56230263 56230263 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 58 126 0 ENST00000279791.1:c.615C>T p.Phe205= p.F205= ENST00000279791 NM_001004743.1 205 ttC/ttT 0 -OR6K2 UCSF GRCh37 1 158669593 158669593 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 73 161 0 ENST00000359610.2:c.850C>T p.Pro284Ser p.P284S ENST00000359610 NM_001005279.1 284 Ccc/Tcc 0 -OR6Y1 UCSF GRCh37 1 158517323 158517323 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 39 108 0 ENST00000302617.3:c.573C>T p.Asn191= p.N191= ENST00000302617 NM_001005189.1 191 aaC/aaT 0 -OR7G1 UCSF GRCh37 19 9226257 9226257 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 213 151 323 0 ENST00000541538.1:c.183C>T p.Phe61= p.F61= ENST00000541538 NM_001005192.2 61 ttC/ttT 0 -OR8G1 UCSF GRCh37 11 124120655 124120655 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 180 180 376 0 ENST00000341493.2:c.233C>T p.Thr78Ile p.T78I ENST00000341493 NM_001002905.1 78 aCc/aTc 0 -OR8G2 UCSF GRCh37 11 124095866 124095866 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 224 176 366 0 ENST00000366149.3:n.430C>T *144* ENST00000366149 0 -OR8G5 UCSF GRCh37 11 124135083 124135083 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 205 168 330 0 ENST00000524943.2:c.361G>A p.Val121Met p.V121M ENST00000524943 NM_001005198.1 121 Gtg/Atg 0 -ORC1 UCSF GRCh37 1 52859350 52859350 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 76 165 0 ENST00000371568.3:c.847C>T p.Leu283Phe p.L283F ENST00000371568 NM_001190818.1 283 Ctt/Ttt 0 -ORC1 UCSF GRCh37 1 52850228 52850228 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 72 154 0 ENST00000371568.3:c.1749C>T p.Ile583= p.I583= ENST00000371568 NM_001190818.1 583 atC/atT 0 -ORC4 UCSF GRCh37 2 148710093 148710093 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 51 176 0 ENST00000392857.5:c.437G>A p.Gly146Asp p.G146D ENST00000392857 NM_001190882.2 146 gGt/gAt 0 -ORMDL2 UCSF GRCh37 12 56212905 56212905 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 52 141 0 ENST00000243045.5:c.122C>T p.Pro41Leu p.P41L ENST00000243045 NM_014182.4 41 cCc/cTc 0 -OTOGL UCSF GRCh37 12 80665526 80665526 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 125 248 0 ENST00000458043.2:c.2590C>T p.Leu864= p.L864= ENST00000458043 NM_173591.3 864 Cta/Tta 0 -OTOL1 UCSF GRCh37 3 161220824 161220824 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 35 87 0 ENST00000327928.4:c.528C>T p.Gly176= p.G176= ENST00000327928 NM_001080440.1 176 ggC/ggT 0 -OTOR UCSF GRCh37 20 16730562 16730562 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 47 35 72 0 ENST00000246081.2:c.270C>T p.Gly90= p.G90= ENST00000246081 NM_020157.3 90 ggC/ggT 0 -OTUD6B UCSF GRCh37 8 92090594 92090594 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 32 95 0 ENST00000285420.4:c.416C>T p.Ala139Val p.A139V ENST00000285420 NM_016023.3 139 gCt/gTt 0 -OTUD7B UCSF GRCh37 1 149921614 149921614 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 76 53 106 0 ENST00000369135.4:c.1041C>T p.Arg347= p.R347= ENST00000369135 NM_020205.3 347 cgC/cgT 0 -OXCT1 UCSF GRCh37 5 41850167 41850167 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 72 45 122 0 ENST00000196371.5:c.529G>A p.Asp177Asn p.D177N ENST00000196371 NM_000436.3 177 Gat/Aat 0 -OXCT1 UCSF GRCh37 5 41803240 41803240 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 127 88 202 0 ENST00000196371.5:c.981C>T p.Leu327= p.L327= ENST00000196371 NM_000436.3 327 ctC/ctT 0 -OXCT1 UCSF GRCh37 5 41870383 41870383 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 20 53 0 ENST00000196371.5:c.78G>A p.Lys26= p.K26= ENST00000196371 NM_000436.3 26 aaG/aaA 0 -OXT UCSF GRCh37 20 3052734 3052734 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 8 8 0 ENST00000217386.2:c.132C>T p.Cys44= p.C44= ENST00000217386 NM_000915.3 44 tgC/tgT 0 -P2RX1 UCSF GRCh37 17 3808555 3808555 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 49 44 110 0 ENST00000225538.3:c.244C>T p.Pro82Ser p.P82S ENST00000225538 NM_002558.3 82 Ccc/Tcc 0 -P4HB UCSF GRCh37 17 79817154 79817154 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 64 161 0 ENST00000331483.4:c.255G>A p.Thr85= p.T85= ENST00000331483 NM_000918.3 85 acG/acA 0 -PACSIN1 UCSF GRCh37 6 34498080 34498080 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 30 29 51 0 ENST00000538621.1:c.849C>T p.Asp283= p.D283= ENST00000538621 NM_001199583.2 283 gaC/gaT 0 -PACSIN1 UCSF GRCh37 6 34496419 34496419 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 88 149 0 ENST00000538621.1:c.221G>A p.Gly74Asp p.G74D ENST00000538621 NM_001199583.2 74 gGc/gAc 0 -PADI4 UCSF GRCh37 1 17681089 17681089 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 67 134 0 ENST00000375448.4:c.1217C>T p.Ser406Phe p.S406F ENST00000375448 NM_012387.2 406 tCc/tTc 0 -PADI4 UCSF GRCh37 1 17668568 17668568 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 49 140 0 ENST00000375448.4:c.783C>T p.Phe261= p.F261= ENST00000375448 NM_012387.2 261 ttC/ttT 0 -PAF1 UCSF GRCh37 19 39880286 39880286 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 84 162 0 ENST00000221265.3:c.286C>T p.Pro96Ser p.P96S ENST00000221265 NM_019088.3 96 Ccc/Tcc 0 -PAFAH1B3 UCSF GRCh37 19 42804127 42804127 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 145 86 208 0 ENST00000538771.1:c.403G>A p.Val135Met p.V135M ENST00000538771 NM_001145940.1 135 Gtg/Atg 0 -PAK2 UCSF GRCh37 3 196509539 196509539 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 186 128 250 0 ENST00000327134.3:c.22G>A p.Glu8Lys p.E8K ENST00000327134 NM_002577.4 8 Gaa/Aaa 0 -PALLD UCSF GRCh37 4 169847516 169847516 + downstream_gene_variant 3'Flank SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 69 135 0 ENST00000505667 0 -PALLD UCSF GRCh37 4 169632805 169632805 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 62 143 0 ENST00000505667.1:c.1695C>T p.Pro565= p.P565= ENST00000505667 565 ccC/ccT 0 -PANK2 UCSF GRCh37 20 3891437 3891437 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 129 99 274 0 ENST00000316562.4:c.1195G>A p.Val399Ile p.V399I ENST00000316562 NM_153638.2 399 Gta/Ata 0 -PAPL UCSF GRCh37 19 39590972 39590972 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 113 88 198 0 ENST00000331256.5:c.611G>A p.Gly204Glu p.G204E ENST00000331256 NM_001004318.2 204 gGg/gAg 0 -PAPLN UCSF GRCh37 14 73727430 73727430 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 15 36 0 ENST00000340738.5:c.1918C>T p.Pro640Ser p.P640S ENST00000340738 NM_173462.3 640 Cct/Tct 0 -PAPOLB UCSF GRCh37 7 4900571 4900571 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 209 174 338 0 ENST00000404991.1:c.868C>T p.Pro290Ser p.P290S ENST00000404991 NM_020144.4 290 Cct/Tct 0 -PAPOLG UCSF GRCh37 2 60987413 60987413 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 82 156 0 ENST00000238714.3:c.162G>A p.Glu54= p.E54= ENST00000238714 NM_022894.3 54 gaG/gaA 0 -PAQR6 UCSF GRCh37 1 156213739 156213739 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 128 224 0 ENST00000335852.1:c.969G>A p.Glu323= p.E323= ENST00000335852 NM_024897.3 323 gaG/gaA 0 -PARD3B UCSF GRCh37 2 205990383 205990383 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 169 113 221 0 ENST00000358768.2:c.1356G>A p.Met452Ile p.M452I ENST00000358768 452 atG/atA 0 -PARD6A UCSF GRCh37 16 67695000 67695000 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 34 59 0 ENST00000219255.3:c.59G>A p.Ser20Asn p.S20N ENST00000219255 20 aGc/aAc 0 -PARD6A UCSF GRCh37 16 67696373 67696373 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 33 84 0 ENST00000219255.3:c.864G>A p.Glu288= p.E288= ENST00000219255 288 gaG/gaA 0 -PARP3 UCSF GRCh37 3 51978176 51978176 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 120 248 0 ENST00000398755.3:c.276C>T p.Ile92= p.I92= ENST00000398755 92 atC/atT 0 -PARVA UCSF GRCh37 11 12399244 12399244 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 5 14 26 0 ENST00000334956.8:c.170C>T p.Pro57Leu p.P57L ENST00000334956 NM_018222.4 57 cCc/cTc 0 -PATL1 UCSF GRCh37 11 59418277 59418277 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 34 115 0 ENST00000300146.9:c.1534G>A p.Glu512Lys p.E512K ENST00000300146 NM_152716.2 512 Gaa/Aaa 0 -PAX6 UCSF GRCh37 11 31815068 31815068 + missense_variant Missense_Mutation SNP C C T snp132_rs75572362 P18_Rec Untested WXS Illumina HiSeq 101 102 199 0 ENST00000419022.1:c.992G>A p.Arg331Gln p.R331Q ENST00000419022 NM_001258462.1 331 cGa/cAa 0 -PAX7 UCSF GRCh37 1 19062467 19062467 + synonymous_variant Silent SNP A A T NOVEL P18_Rec Untested WXS Illumina HiSeq 35 10 43 0 ENST00000375375.3:c.1497A>T p.Ser499= p.S499= ENST00000375375 NM_002584.2 499 tcA/tcT 0 -PAX8 UCSF GRCh37 2 114002114 114002114 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 174 112 265 0 ENST00000429538.3:c.279G>A p.Gly93= p.G93= ENST00000429538 NM_003466.3 93 ggG/ggA 0 -PBRM1 UCSF GRCh37 3 52702642 52702642 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 42 92 0 ENST00000394830.3:c.256G>A p.Glu86Lys p.E86K ENST00000394830 NM_018313.4 86 Gaa/Aaa 0 -PCBP2 UCSF GRCh37 12 53854828 53854828 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 21 79 142 0 ENST00000359462.5:c.405G>A p.Gly135= p.G135= ENST00000359462 135 ggG/ggA 0 -PCDH1 UCSF GRCh37 5 141248699 141248699 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 42 106 0 ENST00000287008.3:c.338C>T p.Thr113Ile p.T113I ENST00000287008 NM_032420.3 113 aCc/aTc 0 -PCDH12 UCSF GRCh37 5 141336753 141336753 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 86 75 141 0 ENST00000231484.3:c.664C>T p.Pro222Ser p.P222S ENST00000231484 NM_016580.3 222 Ccc/Tcc 0 -PCDH19 UCSF GRCh37 X 99661951 99661951 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 15 85 109 0 ENST00000373034.4:c.1645G>A p.Val549Met p.V549M ENST00000373034 NM_001184880.1 549 Gtg/Atg 0 -PCDHA5 UCSF GRCh37 5 140202528 140202528 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 127 93 217 0 ENST00000529859.1:c.1168C>T p.Pro390Ser p.P390S ENST00000529859 NM_018908.2 390 Ccc/Tcc 0 -PCDHB1 UCSF GRCh37 5 140432771 140432771 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 78 167 0 ENST00000306549.3:c.1716C>T p.Pro572= p.P572= ENST00000306549 NM_013340.2 572 ccC/ccT 0 -PCDHB16 UCSF GRCh37 5 140563139 140563139 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 134 77 177 0 ENST00000361016.2:c.1005G>A p.Leu335= p.L335= ENST00000361016 NM_020957.1 335 ctG/ctA 0 -PCDHB4 UCSF GRCh37 5 140503344 140503344 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 37 115 0 ENST00000194152.1:c.1764G>A p.Val588= p.V588= ENST00000194152 NM_018938.2 588 gtG/gtA 0 -PCDHB6 UCSF GRCh37 5 140531894 140531894 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 69 195 0 ENST00000231136.1:c.2056G>A p.Val686Ile p.V686I ENST00000231136 NM_018939.2 686 Gtc/Atc 0 -PCDHGA1 UCSF GRCh37 5 140711739 140711739 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 169 141 280 0 ENST00000517417.1:c.1488C>T p.Ile496= p.I496= ENST00000517417 NM_018912.2 496 atC/atT 0 -PCDHGA2 UCSF GRCh37 5 140719980 140719980 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 102 249 0 ENST00000394576.2:c.1442G>A p.Ser481Asn p.S481N ENST00000394576 NM_018915.2 481 aGc/aAc 0 -PCDHGA5 UCSF GRCh37 5 140744805 140744805 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 53 108 0 ENST00000518069.1:c.908C>T p.Thr303Ile p.T303I ENST00000518069 NM_018918.2 303 aCt/aTt 0 -PCDHGA8 UCSF GRCh37 5 140774817 140774817 + intron_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 178 120 246 0 ENST00000253812.6:c.2424+48793C>T *808* ENST00000253812 NM_018916.3 0 -PCDHGB1 UCSF GRCh37 5 140729999 140729999 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 46 112 0 ENST00000523390.1:c.172G>A p.Glu58Lys p.E58K ENST00000523390 NM_018922.2 58 Gag/Aag 0 -PCDHGB3 UCSF GRCh37 5 140751620 140751620 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 46 117 0 ENST00000576222.1:c.1659C>T p.Asp553= p.D553= ENST00000576222 NM_018924.2 553 gaC/gaT 0 -PCDHGB4 UCSF GRCh37 5 140768577 140768577 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 83 212 0 ENST00000519479.1:c.1126C>T p.His376Tyr p.H376Y ENST00000519479 NM_003736.2 376 Cac/Tac 0 -PCDHGB6 UCSF GRCh37 5 140789820 140789820 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 74 202 0 ENST00000520790.1:c.2051C>T p.Pro684Leu p.P684L ENST00000520790 NM_018926.2 684 cCc/cTc 0 -PCDHGB7 UCSF GRCh37 5 140798542 140798542 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 155 116 272 0 ENST00000398594.2:c.1116G>A p.Arg372= p.R372= ENST00000398594 NM_018927.3 372 cgG/cgA 0 -PCDP1 UCSF GRCh37 2 120362768 120362768 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 53 130 0 ENST00000413369.3:c.1036G>A p.Gly346Ser p.G346S ENST00000413369 NM_001271049.1 346 Ggc/Agc 0 -PCF11 UCSF GRCh37 11 82875381 82875381 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 148 109 294 0 ENST00000298281.4:c.640C>T p.Gln214Ter p.Q214* ENST00000298281 NM_015885.3 214 Cag/Tag 0 -PCK2 UCSF GRCh37 14 24572399 24572399 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 24 51 0 ENST00000216780.4:c.1403G>A p.Trp468Ter p.W468* ENST00000216780 NM_004563.2 468 tGg/tAg 0 -PCK2 UCSF GRCh37 14 24572975 24572975 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 64 160 0 ENST00000216780.4:c.1725G>A p.Leu575= p.L575= ENST00000216780 NM_004563.2 575 ctG/ctA 0 -PCLO UCSF GRCh37 7 82583428 82583428 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 253 190 359 0 ENST00000333891.9:c.6841C>T p.Pro2281Ser p.P2281S ENST00000333891 NM_033026.5 2281 Cct/Tct 0 -PCLO UCSF GRCh37 7 82585868 82585868 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 254 159 408 0 ENST00000333891.9:c.4401G>A p.Glu1467= p.E1467= ENST00000333891 NM_033026.5 1467 gaG/gaA 0 -PCLO UCSF GRCh37 7 82579026 82579026 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 115 235 0 ENST00000333891.9:c.10878C>T p.Pro3626= p.P3626= ENST00000333891 NM_033026.5 3626 ccC/ccT 0 -PCNX UCSF GRCh37 14 71518672 71518672 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 97 200 0 ENST00000304743.2:c.4520G>A p.Ser1507Asn p.S1507N ENST00000304743 NM_014982.2 1507 aGt/aAt 0 -PCSK7 UCSF GRCh37 11 117079743 117079743 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 8 73 0 ENST00000320934.3:c.1561G>A p.Gly521Arg p.G521R ENST00000320934 NM_004716.2 521 Ggg/Agg 0 -PCSK7 UCSF GRCh37 11 117100424 117100424 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 26 30 65 0 ENST00000320934.3:c.137G>A p.Gly46Asp p.G46D ENST00000320934 NM_004716.2 46 gGc/gAc 0 -PCYOX1L UCSF GRCh37 5 148742296 148742296 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 111 78 188 0 ENST00000274569.4:c.185C>T p.Thr62Ile p.T62I ENST00000274569 NM_024028.3 62 aCc/aTc 0 -PDE1C UCSF GRCh37 7 31864559 31864559 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 175 112 274 0 ENST00000396193.1:c.1508C>T p.Thr503Met p.T503M ENST00000396193 NM_001191058.1 503 aCg/aTg 0 -PDE1C UCSF GRCh37 7 31887640 31887640 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 159 111 240 0 ENST00000396193.1:c.1102C>T p.Leu368Phe p.L368F ENST00000396193 NM_001191058.1 368 Ctt/Ttt 0 -PDE2A UCSF GRCh37 11 72293528 72293528 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 50 118 0 ENST00000334456.5:c.1811C>T p.Thr604Ile p.T604I ENST00000334456 NM_002599.4 604 aCc/aTc 0 -PDE4D UCSF GRCh37 5 59284412 59284412 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 191 147 266 0 ENST00000502484.2:c.175G>A p.Ala59Thr p.A59T ENST00000502484 NM_001165899.1 59 Gct/Act 0 -PDE4DIP UCSF GRCh37 1 144879476 144879476 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 300 83 330 0 ENST00000369356.4:c.3974G>A p.Ser1325Asn p.S1325N ENST00000369356 NM_014644.5 1325 aGt/aAt 0 -PDE5A UCSF GRCh37 4 120422325 120422325 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 56 138 0 ENST00000354960.3:c.2490G>A p.Glu830= p.E830= ENST00000354960 NM_001083.3 830 gaG/gaA 0 -PDE6B UCSF GRCh37 4 657647 657647 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 20 20 29 0 ENST00000496514.1:c.2009C>T p.Ala670Val p.A670V ENST00000496514 670 gCc/gTc 0 -PDE6C UCSF GRCh37 10 95385407 95385407 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 53 85 0 ENST00000371447.3:c.939+1G>A p.X313_splice ENST00000371447 NM_006204.3 0 -PDE8A UCSF GRCh37 15 85664105 85664105 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 96 163 0 ENST00000310298.4:c.1812C>T p.Thr604= p.T604= ENST00000310298 604 acC/acT 0 -PDGFA UCSF GRCh37 7 551993 551993 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 20 63 0 ENST00000354513.5:c.260G>A p.Ser87Asn p.S87N ENST00000354513 NM_002607.5 87 aGc/aAc 0 -PDLIM3 UCSF GRCh37 4 186429600 186429600 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 79 168 0 ENST00000284770.5:c.515C>T p.Pro172Leu p.P172L ENST00000284770 NM_014476.5 172 cCt/cTt 0 -PDLIM7 UCSF GRCh37 5 176911158 176911158 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 50 118 0 ENST00000355841.2:c.1084G>A p.Val362Met p.V362M ENST00000355841 NM_005451.4 362 Gtg/Atg 0 -PDLIM7 UCSF GRCh37 5 176915113 176915113 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 75 134 0 ENST00000355841.2:c.1006C>T p.Arg336Cys p.R336C ENST00000355841 NM_005451.4 336 Cgc/Tgc 0 -PDZD2 UCSF GRCh37 5 32087729 32087729 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 40 100 0 ENST00000438447.1:c.4175C>T p.Ala1392Val p.A1392V ENST00000438447 1392 gCc/gTc 0 -PDZD2 UCSF GRCh37 5 31995702 31995702 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 54 141 0 ENST00000438447.1:c.999G>A p.Trp333Ter p.W333* ENST00000438447 333 tgG/tgA 0 -PEG3 UCSF GRCh37 19 57327800 57327800 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 155 106 227 0 ENST00000326441.9:c.2010G>A p.Gln670= p.Q670= ENST00000326441 NM_006210.2 670 caG/caA 0 -PELO UCSF GRCh37 5 52096954 52096954 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 71 142 0 ENST00000274311.2:c.726G>A p.Gln242= p.Q242= ENST00000274311 NM_015946.4 242 caG/caA 0 -PET112 UCSF GRCh37 4 152637283 152637283 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 57 43 110 0 ENST00000263985.6:c.641G>A p.Gly214Glu p.G214E ENST00000263985 NM_004564.2 214 gGa/gAa 0 -PEX13 UCSF GRCh37 2 61272904 61272904 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 24 71 168 0 ENST00000295030.5:c.831C>T p.Ala277= p.A277= ENST00000295030 NM_002618.3 277 gcC/gcT 0 -PEX14 UCSF GRCh37 1 10684432 10684432 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 66 127 0 ENST00000356607.4:c.523G>A p.Glu175Lys p.E175K ENST00000356607 NM_004565.2 175 Gag/Aag 0 -PEX5L UCSF GRCh37 3 179597794 179597794 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 68 141 0 ENST00000467460.1:c.428G>A p.Gly143Glu p.G143E ENST00000467460 NM_001256751.1 143 gGa/gAa 0 -PEX6 UCSF GRCh37 6 42936056 42936056 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 22 60 0 ENST00000304611.8:c.1660C>T p.Leu554Phe p.L554F ENST00000304611 NM_000287.3 554 Ctc/Ttc 0 -PFKM UCSF GRCh37 12 48536631 48536631 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 75 142 0 ENST00000340802.6:c.1933G>A p.Gly645Ser p.G645S ENST00000340802 NM_001166686.1 645 Ggt/Agt 0 -PGLS UCSF GRCh37 19 17628524 17628528 + frameshift_variant Frame_Shift_Del DEL GGAGA GGAGA - NOVEL P18_Rec Untested WXS Illumina HiSeq 49 0 ENST00000252603.2:c.504_508del p.Glu169AspfsTer7 p.E169Dfs*7 ENST00000252603 NM_012088.2 168 cgGGAGAag/cgag 0 -PGM3 UCSF GRCh37 6 83900605 83900605 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 132 82 191 0 ENST00000506587.1:c.211G>A p.Gly71Arg p.G71R ENST00000506587 NM_001199917.1 71 Gga/Aga 0 -PGR UCSF GRCh37 11 100933464 100933464 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 54 140 0 ENST00000325455.5:c.1926C>T p.Phe642= p.F642= ENST00000325455 NM_001202474.3 642 ttC/ttT 0 -PHF12 UCSF GRCh37 17 27233392 27233392 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 47 121 0 ENST00000332830.4:c.2824G>A p.Glu942Lys p.E942K ENST00000332830 NM_001033561.1 942 Gag/Aag 0 -PHF14 UCSF GRCh37 7 11022578 11022578 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 162 134 254 0 ENST00000403050.3:c.692G>A p.Gly231Glu p.G231E ENST00000403050 NM_014660.3 231 gGa/gAa 0 -PHF17 UCSF GRCh37 4 129783248 129783248 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 53 169 0 ENST00000226319.6:c.1371G>A p.Lys457= p.K457= ENST00000226319 NM_199320.2 457 aaG/aaA 0 -PHF6 UCSF GRCh37 X 133547969 133547969 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 106 126 0 ENST00000332070.3:c.702G>A p.Lys234= p.K234= ENST00000332070 NM_032458.2 234 aaG/aaA 0 -PHIP UCSF GRCh37 6 79650787 79650787 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 128 259 0 ENST00000275034.4:c.5089G>A p.Glu1697Lys p.E1697K ENST00000275034 NM_017934.5 1697 Gaa/Aaa 0 -PHKB UCSF GRCh37 16 47533749 47533749 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 131 114 245 0 ENST00000323584.5:c.249G>A p.Lys83= p.K83= ENST00000323584 NM_000293.2 83 aaG/aaA 0 -PHKG2 UCSF GRCh37 16 30767589 30767589 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 105 86 187 0 ENST00000563588.1:c.643G>A p.Asp215Asn p.D215N ENST00000563588 NM_000294.2 215 Gac/Aac 0 -PHOX2B UCSF GRCh37 4 41750393 41750393 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 29 102 0 ENST00000226382.2:c.235G>A p.Ala79Thr p.A79T ENST00000226382 NM_003924.3 79 Gcc/Acc 0 -PHRF1 UCSF GRCh37 11 606577 606577 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 22 65 0 ENST00000416188.2:c.1587C>T p.Ser529= p.S529= ENST00000416188 529 tcC/tcT 0 -PHTF2 UCSF GRCh37 7 77549735 77549735 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 200 130 300 0 ENST00000416283.2:c.814G>A p.Glu272Lys p.E272K ENST00000416283 NM_020432.4 272 Gaa/Aaa 0 -PHYHD1 UCSF GRCh37 9 131696310 131696310 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 59 108 0 ENST00000308941.5:c.289G>A p.Glu97Lys p.E97K ENST00000308941 NM_174933.3 97 Gag/Aag 0 -PI4K2B UCSF GRCh37 4 25270136 25270136 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 58 115 0 ENST00000264864.6:c.1150C>T p.Pro384Ser p.P384S ENST00000264864 NM_018323.3 384 Cca/Tca 0 -PIAS1 UCSF GRCh37 15 68473593 68473593 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 186 147 297 0 ENST00000249636.6:c.1525C>T p.Pro509Ser p.P509S ENST00000249636 NM_016166.1 509 Cca/Tca 0 -PIDD UCSF GRCh37 11 799413 799413 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 12 53 112 0 ENST00000347755.5:c.2627G>A p.Gly876Asp p.G876D ENST00000347755 NM_145886.3 876 gGc/gAc 0 -PIEZO2 UCSF GRCh37 18 10680198 10680198 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 59 143 0 ENST00000503781.3:c.7611G>A p.Gln2537= p.Q2537= ENST00000503781 NM_022068.2 2537 caG/caA 0 -PIGL UCSF GRCh37 17 16221183 16221183 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 68 145 0 ENST00000225609.5:c.621C>T p.Val207= p.V207= ENST00000225609 NM_004278.3 207 gtC/gtT 0 -PIGO UCSF GRCh37 9 35095060 35095060 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 61 145 0 ENST00000378617.3:c.503C>T p.Thr168Ile p.T168I ENST00000378617 NM_032634.3 168 aCc/aTc 0 -PIGW UCSF GRCh37 17 34892953 34892953 + start_lost Translation_Start_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 54 148 0 ENST00000592983.1:c.3G>A p.Met1? p.M1? ENST00000592983 1 atG/atA 0 -PIK3CA UCSF GRCh37 3 178936082 178936082 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 76 58 158 0 ENST00000263967.3:c.1624G>A p.Glu542Lys p.E542K ENST00000263967 NM_006218.2 542 Gaa/Aaa 0 -PIK3CA UCSF GRCh37 3 178936076 178936076 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 70 57 153 0 ENST00000263967.3:c.1618C>G p.Leu540Val p.L540V ENST00000263967 NM_006218.2 540 Ctc/Gtc 0 -PIK3CD UCSF GRCh37 1 9775947 9775947 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 22 58 0 ENST00000377346.4:c.411C>T p.Asn137= p.N137= ENST00000377346 NM_005026.3 137 aaC/aaT 0 -PIK3R3 UCSF GRCh37 1 46532727 46532727 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 206 140 288 0 ENST00000262741.5:c.351C>T p.His117= p.H117= ENST00000262741 NM_003629.3 117 caC/caT 0 -PIK3R5 UCSF GRCh37 17 8791876 8791876 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 22 44 0 ENST00000447110.1:c.1228G>A p.Glu410Lys p.E410K ENST00000447110 NM_001251855.1 410 Gaa/Aaa 0 -PIKFYVE UCSF GRCh37 2 209214753 209214753 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 85 197 1 ENST00000264380.4:c.5380G>A p.Val1794Ile p.V1794I ENST00000264380 NM_015040.3 1794 Gta/Ata 0 -PILRB UCSF GRCh37 7 99956627 99956627 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 73 195 0 ENST00000610247.1:c.379G>A p.Val127Ile p.V127I ENST00000610247 127 Gtc/Atc 0 -PINX1 UCSF GRCh37 8 10623210 10623210 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 161 110 230 0 ENST00000314787.3:c.688C>T p.Pro230Ser p.P230S ENST00000314787 NM_017884.4 230 Cct/Tct 0 -PIP5KL1 UCSF GRCh37 9 130688199 130688199 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 34 77 0 ENST00000388747.4:c.710C>T p.Pro237Leu p.P237L ENST00000388747 NM_001135219.1 237 cCc/cTc 0 -PIWIL4 UCSF GRCh37 11 94341853 94341853 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 117 106 177 0 ENST00000299001.6:c.1943+1G>A p.X648_splice ENST00000299001 NM_152431.2 0 -PKD1 UCSF GRCh37 16 2160943 2160943 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 152 39 99 0 ENST00000262304.4:c.4225C>T p.Pro1409Ser p.P1409S ENST00000262304 NM_001009944.2 1409 Ccc/Tcc 0 -PKD1 UCSF GRCh37 16 2164604 2164604 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 8 16 0 ENST00000262304.4:c.2420C>T p.Ser807Phe p.S807F ENST00000262304 NM_001009944.2 807 tCc/tTc 0 -PKD1 UCSF GRCh37 16 2149911 2149911 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 34 69 0 ENST00000262304.4:c.9874C>T p.Leu3292= p.L3292= ENST00000262304 NM_001009944.2 3292 Ctg/Ttg 0 -PKD1 UCSF GRCh37 16 2159333 2159333 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 43 39 0 ENST00000262304.4:c.5835C>T p.Asp1945= p.D1945= ENST00000262304 NM_001009944.2 1945 gaC/gaT 0 -PKD2L1 UCSF GRCh37 10 102051073 102051073 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 110 64 191 0 ENST00000318222.3:c.1992C>T p.Asp664= p.D664= ENST00000318222 NM_016112.2 664 gaC/gaT 0 -PKHD1 UCSF GRCh37 6 51612952 51612952 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 219 170 363 0 ENST00000371117.3:c.9462C>T p.Asp3154= p.D3154= ENST00000371117 NM_138694.3 3154 gaC/gaT 0 -PLA2R1 UCSF GRCh37 2 160832690 160832690 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 47 115 0 ENST00000283243.7:c.2484C>T p.Thr828= p.T828= ENST00000283243 NM_001195641.1 828 acC/acT 0 -PLAGL1 UCSF GRCh37 6 144263210 144263210 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 69 152 0 ENST00000360537.2:c.743C>T p.Ala248Val p.A248V ENST00000360537 248 gCc/gTc 0 -PLAU UCSF GRCh37 10 75673360 75673360 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 180 138 301 0 ENST00000372764.3:c.524C>T p.Pro175Leu p.P175L ENST00000372764 NM_002658.3 175 cCc/cTc 0 -PLAUR UCSF GRCh37 19 44169538 44169538 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 68 155 0 ENST00000340093.3:c.240G>A p.Arg80= p.R80= ENST00000340093 NM_002659.3 80 cgG/cgA 0 -PLCB3 UCSF GRCh37 11 64030184 64030184 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 55 151 0 ENST00000540288.1:c.2259C>T p.Gly753= p.G753= ENST00000540288 NM_000932.2 753 ggC/ggT 0 -PLCD1 UCSF GRCh37 3 38050863 38050863 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 64 53 133 0 ENST00000463876.1:c.1569C>T p.Val523= p.V523= ENST00000463876 NM_001130964.1 523 gtC/gtT 0 -PLCH1 UCSF GRCh37 3 155301352 155301352 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 100 197 0 ENST00000340059.7:c.644G>A p.Arg215Gln p.R215Q ENST00000340059 NM_001130960.1 215 cGa/cAa 0 -PLCL1 UCSF GRCh37 2 198950615 198950615 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 132 93 200 0 ENST00000428675.1:c.2374G>A p.Ala792Thr p.A792T ENST00000428675 NM_006226.3 792 Gcc/Acc 0 -PLCL1 UCSF GRCh37 2 198949378 198949378 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 170 121 257 0 ENST00000428675.1:c.1137G>A p.Gln379= p.Q379= ENST00000428675 NM_006226.3 379 caG/caA 0 -PLEC UCSF GRCh37 8 145007028 145007028 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 12 35 0 ENST00000322810.4:c.2081G>A p.Ser694Asn p.S694N ENST00000322810 NM_201380.2 694 aGc/aAc 0 -PLEC UCSF GRCh37 8 145010156 145010156 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 37 73 0 ENST00000322810.4:c.873G>A p.Gln291= p.Q291= ENST00000322810 NM_201380.2 291 caG/caA 0 -PLEC UCSF GRCh37 8 144992720 144992720 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 35 16 41 0 ENST00000322810.4:c.11680C>T p.Leu3894= p.L3894= ENST00000322810 NM_201380.2 3894 Ctg/Ttg 0 -PLEKHA6 UCSF GRCh37 1 204197900 204197900 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 59 113 0 ENST00000272203.3:c.2841G>A p.Lys947= p.K947= ENST00000272203 NM_014935.4 947 aaG/aaA 0 -PLEKHA6 UCSF GRCh37 1 204198137 204198137 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 41 89 0 ENST00000272203.3:c.2679C>T p.Pro893= p.P893= ENST00000272203 NM_014935.4 893 ccC/ccT 0 -PLEKHD1 UCSF GRCh37 14 69995020 69995020 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 15 9 31 0 ENST00000322564.7:c.1405G>A p.Glu469Lys p.E469K ENST00000322564 NM_001161498.1 469 Gag/Aag 0 -PLEKHG1 UCSF GRCh37 6 151130280 151130280 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 60 144 0 ENST00000367328.1:c.952C>T p.Leu318= p.L318= ENST00000367328 NM_001029884.1 318 Ctg/Ttg 0 -PLEKHG6 UCSF GRCh37 12 6427914 6427914 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 30 88 0 ENST00000396988.3:c.1279G>A p.Asp427Asn p.D427N ENST00000396988 NM_001144856.1 427 Gac/Aac 0 -PLEKHM2 UCSF GRCh37 1 16051828 16051828 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 12 6 26 0 ENST00000375799.3:c.729C>T p.Asp243= p.D243= ENST00000375799 NM_015164.2 243 gaC/gaT 0 -PLIN2 UCSF GRCh37 9 19121023 19121023 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 30 114 242 0 ENST00000276914.2:c.450G>A p.Glu150= p.E150= ENST00000276914 NM_001122.3 150 gaG/gaA 0 -PLIN4 UCSF GRCh37 19 4512632 4512632 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 195 145 329 0 ENST00000301286.3:c.1298C>T p.Ala433Val p.A433V ENST00000301286 NM_001080400.1 433 gCc/gTc 0 -PLK3 UCSF GRCh37 1 45270338 45270338 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 93 235 0 ENST00000372201.4:c.1522C>T p.Pro508Ser p.P508S ENST00000372201 NM_004073.2 508 Ccc/Tcc 0 -PLP2 UCSF GRCh37 X 49029528 49029528 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 41 60 0 ENST00000376327.5:c.149C>T p.Ser50Phe p.S50F ENST00000376327 NM_002668.2 50 tCc/tTc 0 -PLS1 UCSF GRCh37 3 142430816 142430816 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 186 155 291 0 ENST00000337777.3:c.1857C>T p.Cys619= p.C619= ENST00000337777 NM_002670.2 619 tgC/tgT 0 -PLSCR3 UCSF GRCh37 17 7296785 7296785 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 157 151 269 0 ENST00000535512.1:c.286+1G>A p.X96_splice ENST00000535512 0 -PLSCR4 UCSF GRCh37 3 145924492 145924492 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 34 62 0 ENST00000354952.2:c.175G>A p.Gly59Arg p.G59R ENST00000354952 NM_020353.2 59 Gga/Aga 0 -PLXDC2 UCSF GRCh37 10 20432236 20432236 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 303 94 230 0 ENST00000377252.4:c.554C>T p.Thr185Ile p.T185I ENST00000377252 NM_032812.7 185 aCt/aTt 0 -PLXNA2 UCSF GRCh37 1 208218062 208218062 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 17 64 0 ENST00000367033.3:c.3665C>T p.Ser1222Leu p.S1222L ENST00000367033 NM_025179.3 1222 tCg/tTg 0 -PLXNA2 UCSF GRCh37 1 208272261 208272261 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 26 58 0 ENST00000367033.3:c.1661C>T p.Ala554Val p.A554V ENST00000367033 NM_025179.3 554 gCc/gTc 0 -PLXNA2 UCSF GRCh37 1 208227865 208227865 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 51 77 0 ENST00000367033.3:c.2757C>T p.Gly919= p.G919= ENST00000367033 NM_025179.3 919 ggC/ggT 0 -PLXNB1 UCSF GRCh37 3 48462134 48462134 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 16 59 0 ENST00000358536.4:c.1968G>A p.Trp656Ter p.W656* ENST00000358536 NM_002673.4 656 tgG/tgA 0 -PLXMT-ND1 UCSF GRCh37 3 129290040 129290040 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 55 48 126 0 ENST00000324093.4:c.3443A>G p.Asp1148Gly p.D1148G ENST00000324093 NM_015103.2 1148 gAc/gGc 0 -PML UCSF GRCh37 15 74325727 74325727 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 37 75 0 ENST00000268058.3:c.1629C>T p.Asn543= p.N543= ENST00000268058 NM_033238.2 543 aaC/aaT 0 -PMM1 UCSF GRCh37 22 41973821 41973821 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 55 139 0 ENST00000216259.7:c.657G>A p.Glu219= p.E219= ENST00000216259 NM_002676.2 219 gaG/gaA 0 -PNLIPRP3 UCSF GRCh37 10 118220511 118220511 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 125 69 189 0 ENST00000369230.3:c.599C>T p.Thr200Ile p.T200I ENST00000369230 NM_001011709.2 200 aCt/aTt 0 -POC1A UCSF GRCh37 3 52109984 52109984 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 76 171 0 ENST00000296484.2:c.1143G>A p.Glu381= p.E381= ENST00000296484 NM_015426.4 381 gaG/gaA 0 -POGK UCSF GRCh37 1 166810316 166810316 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 59 137 0 ENST00000367875.1:c.123G>A p.Glu41= p.E41= ENST00000367875 41 gaG/gaA 0 -POGZ UCSF GRCh37 1 151396657 151396657 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 108 184 0 ENST00000271715.2:c.1291C>T p.Pro431Ser p.P431S ENST00000271715 NM_015100.3 431 Cct/Tct 0 -POLA1 UCSF GRCh37 X 25014013 25014013 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 75 73 0 ENST00000379059.3:c.4335C>T p.Gly1445= p.G1445= ENST00000379059 NM_016937.3 1445 ggC/ggT 0 -POLD1 UCSF GRCh37 19 50905276 50905276 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 32 85 0 ENST00000440232.2:c.484G>T p.Gly162Cys p.G162C ENST00000440232 NM_002691.3 162 Ggt/Tgt 0 -POLDIP3 UCSF GRCh37 22 42988024 42988024 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 104 224 0 ENST00000252115.5:c.958G>A p.Val320Met p.V320M ENST00000252115 NM_001278657.1 320 Gtg/Atg 0 -POLH UCSF GRCh37 6 43582155 43582155 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 235 152 309 0 ENST00000372236.4:c.2003C>T p.Ser668Phe p.S668F ENST00000372236 NM_006502.2 668 tCt/tTt 0 -POLN UCSF GRCh37 4 2129915 2129915 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 203 141 308 1 ENST00000511885.2:c.1907C>T p.Ser636Phe p.S636F ENST00000511885 636 tCt/tTt 0 -POLN UCSF GRCh37 4 2159619 2159619 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 145 117 251 0 ENST00000511885.2:c.1631C>T p.Thr544Ile p.T544I ENST00000511885 544 aCc/aTc 0 -POLR1E UCSF GRCh37 9 37503132 37503132 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 65 166 0 ENST00000377798.4:c.1193C>T p.Thr398Ile p.T398I ENST00000377798 NM_022490.1 398 aCc/aTc 0 -POLR1E UCSF GRCh37 9 37486787 37486787 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 32 104 224 0 ENST00000377798.4:c.164G>A p.Arg55Lys p.R55K ENST00000377798 NM_022490.1 55 aGg/aAg 0 -POLR3A UCSF GRCh37 10 79745098 79745098 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 93 91 145 0 ENST00000372371.3:c.3072G>A p.Arg1024= p.R1024= ENST00000372371 NM_007055.3 1024 agG/agA 0 -POM121 UCSF GRCh37 7 72400590 72400590 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 190 141 339 0 ENST00000395270.1:c.421C>T p.Pro141Ser p.P141S ENST00000395270 NM_001257190.2 141 Cct/Tct 0 -POMZP3 UCSF GRCh37 7 76240803 76240803 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 100 149 0 ENST00000310842.4:c.543G>A p.Trp181Ter p.W181* ENST00000310842 NM_012230.3 181 tgG/tgA 0 -POU2F3 UCSF GRCh37 11 120139950 120139950 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 64 120 0 ENST00000260264.4:c.135G>A p.Arg45= p.R45= ENST00000260264 NM_001244682.1 45 agG/agA 0 -POU3F1 UCSF GRCh37 1 38511573 38511573 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 51 44 91 0 ENST00000373012.2:c.843C>T p.Gly281= p.G281= ENST00000373012 NM_002699.3 281 ggC/ggT 0 -PPAPDC3 UCSF GRCh37 9 134165721 134165721 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 49 108 0 ENST00000372264.3:c.337G>A p.Val113Ile p.V113I ENST00000372264 NM_032728.3 113 Gtc/Atc 0 -PPARGC1A UCSF GRCh37 4 23826108 23826108 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 177 151 310 0 ENST00000264867.2:c.781C>T p.Pro261Ser p.P261S ENST00000264867 NM_013261.3 261 Cct/Tct 0 -PPARGC1B UCSF GRCh37 5 149214929 149214929 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 78 163 0 ENST00000309241.5:c.1807+1G>A p.X603_splice ENST00000309241 NM_133263.3 0 -PPEF2 UCSF GRCh37 4 76797592 76797592 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 42 26 79 0 ENST00000286719.7:c.1168G>A p.Val390Met p.V390M ENST00000286719 NM_006239.2 390 Gtg/Atg 0 -PPFIA1 UCSF GRCh37 11 70201767 70201767 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 81 141 0 ENST00000253925.7:c.2338C>T p.Pro780Ser p.P780S ENST00000253925 NM_003626.3 780 Ccc/Tcc 0 -PPIG UCSF GRCh37 2 170493450 170493450 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 94 197 0 ENST00000260970.3:c.1682G>A p.Arg561Lys p.R561K ENST00000260970 NM_004792.2 561 aGa/aAa 0 -PPIP5K1 UCSF GRCh37 15 43827298 43827298 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 137 103 209 0 ENST00000420765.1:c.3876C>T p.Asn1292= p.N1292= ENST00000420765 NM_001130858.2 1292 aaC/aaT 0 -PPL UCSF GRCh37 16 4953973 4953973 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 21 64 0 ENST00000345988.2:c.231C>T p.Asp77= p.D77= ENST00000345988 NM_002705.4 77 gaC/gaT 0 -PPP1R13B UCSF GRCh37 14 104219354 104219354 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 62 141 0 ENST00000202556.9:c.811C>T p.Leu271= p.L271= ENST00000202556 NM_015316.2 271 Ctg/Ttg 0 -PPP1R15A UCSF GRCh37 19 49376632 49376632 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 29 62 0 ENST00000200453.5:c.142G>A p.Glu48Lys p.E48K ENST00000200453 NM_014330.3 48 Gaa/Aaa 0 -PPP1R16A UCSF GRCh37 8 145722709 145722709 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 23 49 0 ENST00000292539.4:c.132C>T p.Ala44= p.A44= ENST00000292539 44 gcC/gcT 0 -PPP1R3D UCSF GRCh37 20 58514666 58514666 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 27 6 20 0 ENST00000370996.3:c.321C>T p.Asp107= p.D107= ENST00000370996 NM_006242.3 107 gaC/gaT 0 -PPP2R5C UCSF GRCh37 14 102368190 102368190 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 57 153 0 ENST00000422945.2:c.1080G>A p.Arg360= p.R360= ENST00000422945 NM_001161725.1 360 cgG/cgA 0 -PPP3CB UCSF GRCh37 10 75230479 75230479 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 64 136 0 ENST00000394829.2:c.948G>A p.Ser316= p.S316= ENST00000394829 NM_001142353.1 316 tcG/tcA 0 -PPP3CC UCSF GRCh37 8 22368658 22368658 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 135 96 200 0 ENST00000397775.3:c.544C>T p.Pro182Ser p.P182S ENST00000397775 NM_001243974.1 182 Cct/Tct 0 -PPP6R2 UCSF GRCh37 22 50869666 50869666 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 58 188 0 ENST00000395741.3:c.1193C>T p.Ala398Val p.A398V ENST00000395741 398 gCt/gTt 0 -PPT1 UCSF GRCh37 1 40544268 40544268 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 66 177 0 ENST00000433473.3:c.690C>T p.Phe230= p.F230= ENST00000433473 NM_000310.3 230 ttC/ttT 0 -PRAMEF1 UCSF GRCh37 1 12854201 12854201 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 351 176 605 0 ENST00000332296.7:c.425G>A p.Gly142Glu p.G142E ENST00000332296 NM_023013.2 142 gGa/gAa 0 -PRAMEF12 UCSF GRCh37 1 12836049 12836049 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 156 114 239 0 ENST00000357726.4:c.651C>T p.Ser217= p.S217= ENST00000357726 NM_001080830.1 217 tcC/tcT 0 -PRAMEF4 UCSF GRCh37 1 12941966 12941966 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 105 301 0 ENST00000235349.5:c.584G>A p.Arg195His p.R195H ENST00000235349 NM_001009611.2 195 cGc/cAc 0 -PRAMEF6 UCSF GRCh37 1 13001251 13001251 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 420 108 732 0 ENST00000376189.1:c.432G>A p.Gln144= p.Q144= ENST00000376189 NM_001010889.2 144 caG/caA 0 -PRAMEF7 UCSF GRCh37 1 12979697 12979697 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 45 235 0 ENST00000361079.2:c.889G>A p.Val297Ile p.V297I ENST00000361079 297 Gtc/Atc 0 -PRB4 UCSF GRCh37 12 11461546 11461546 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 214 69 289 0 ENST00000279575.1:c.371C>T p.Pro124Leu p.P124L ENST00000279575 NM_001261399.1 124 cCc/cTc 0 -PRDM10 UCSF GRCh37 11 129814713 129814713 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 114 85 190 0 ENST00000358825.5:c.715C>T p.Pro239Ser p.P239S ENST00000358825 NM_020228.2 239 Cct/Tct 0 -PRDM15 UCSF GRCh37 21 43221771 43221771 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 65 38 104 0 ENST00000269844.3:c.4153C>T p.Leu1385Phe p.L1385F ENST00000269844 NM_022115.3 1385 Ctc/Ttc 0 -PRDM15 UCSF GRCh37 21 43258105 43258105 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 111 76 202 0 ENST00000269844.3:c.2037G>A p.Arg679= p.R679= ENST00000269844 NM_022115.3 679 cgG/cgA 0 -PRDM16 UCSF GRCh37 1 3334421 3334421 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 97 177 0 ENST00000270722.5:c.2721G>A p.Lys907= p.K907= ENST00000270722 907 aaG/aaA 0 -PRDM2 UCSF GRCh37 1 14106287 14106287 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 70 148 0 ENST00000235372.7:c.1997G>A p.Ser666Asn p.S666N ENST00000235372 NM_012231.4 666 aGt/aAt 0 -PRDM2 UCSF GRCh37 1 14106776 14106776 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 80 180 0 ENST00000235372.7:c.2486G>A p.Gly829Asp p.G829D ENST00000235372 NM_012231.4 829 gGt/gAt 0 -PRDM4 UCSF GRCh37 12 108147759 108147759 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 47 98 0 ENST00000228437.5:c.273C>T p.Thr91= p.T91= ENST00000228437 NM_012406.3 91 acC/acT 0 -PRDX2 UCSF GRCh37 19 12911811 12911811 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 33 72 0 ENST00000301522.2:c.176G>A p.Ser59Asn p.S59N ENST00000301522 NM_005809.5 59 aGc/aAc 0 -PREX2 UCSF GRCh37 8 69017553 69017553 + intron_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 61 151 0 ENST00000288368.4:c.2716-2791C>T *906* ENST00000288368 NM_024870.2 0 -PRG4 UCSF GRCh37 1 186276020 186276020 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 63 63 126 0 ENST00000445192.2:c.1169C>T p.Pro390Leu p.P390L ENST00000445192 NM_005807.3 390 cCc/cTc 0 -PRIC285 UCSF GRCh37 20 62191299 62191299 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 25 56 0 ENST00000467148.1:c.7807G>A p.Glu2603Lys p.E2603K ENST00000467148 NM_001037335.2 2603 Gag/Aag 0 -PRIM2 UCSF GRCh37 6 57398214 57398214 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 428 114 714 1 ENST00000607273.1:c.917G>A p.Arg306Gln p.R306Q ENST00000607273 NM_000947.3 306 cGa/cAa 0 -PRKACG UCSF GRCh37 9 71628387 71628387 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 43 110 0 ENST00000377276.2:c.622C>T p.Pro208Ser p.P208S ENST00000377276 NM_002732.3 208 Ccc/Tcc 0 -PRKAG2 UCSF GRCh37 7 151573591 151573591 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 28 49 1 ENST00000287878.4:c.114+1G>A p.X38_splice ENST00000287878 NM_016203.3 0 -PRKCH UCSF GRCh37 14 61857951 61857951 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0014 P18_Rec Untested WXS Illumina HiSeq 75 67 130 0 ENST00000332981.5:c.372C>T p.Leu124= p.L124= ENST00000332981 NM_006255.3 124 ctC/ctT 0 -PRKCSH UCSF GRCh37 19 11552127 11552127 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 67 217 0 ENST00000252455.2:c.423G>A p.Lys141= p.K141= ENST00000252455 NM_002743.2 141 aaG/aaA 0 -PRKD1 UCSF GRCh37 14 30100122 30100122 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 90 179 0 ENST00000331968.5:c.1498G>A p.Val500Met p.V500M ENST00000331968 NM_002742.2 500 Gtg/Atg 0 -PRKD2 UCSF GRCh37 19 47195006 47195006 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 72 150 0 ENST00000433867.1:c.1688G>A p.Gly563Glu p.G563E ENST00000433867 NM_001079881.1 563 gGa/gAa 0 -PRKD2 UCSF GRCh37 19 47204305 47204305 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 55 83 0 ENST00000433867.1:c.954C>T p.Ala318= p.A318= ENST00000433867 NM_001079881.1 318 gcC/gcT 0 -PRMT10 UCSF GRCh37 4 148604985 148604985 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 41 108 0 ENST00000322396.6:c.154C>T p.Leu52Phe p.L52F ENST00000322396 NM_138364.2 52 Ctc/Ttc 0 -PRMT6 UCSF GRCh37 1 107600343 107600343 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 29 83 1 ENST00000370078.1:c.1006G>A p.Asp336Asn p.D336N ENST00000370078 336 Gac/Aac 0 -PRMT7 UCSF GRCh37 16 68380067 68380067 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 71 159 0 ENST00000339507.5:c.1075G>A p.Val359Ile p.V359I ENST00000339507 359 Gtc/Atc 0 -PROKR2 UCSF GRCh37 20 5294982 5294982 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 61 130 0 ENST00000546004.1:c.34C>T p.Pro12Ser p.P12S ENST00000546004 12 Ccc/Tcc 0 -PROL1 UCSF GRCh37 4 71275570 71275570 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 71 194 0 ENST00000399575.2:c.525C>T p.Ile175= p.I175= ENST00000399575 NM_021225.4 175 atC/atT 0 -PROM2 UCSF GRCh37 2 95941741 95941741 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 16 29 0 ENST00000317620.9:c.358G>A p.Val120Met p.V120M ENST00000317620 NM_001165978.1 120 Gtg/Atg 0 -PRPF19 UCSF GRCh37 11 60665699 60665699 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 60 137 0 ENST00000227524.4:c.1185C>T p.Ile395= p.I395= ENST00000227524 NM_014502.4 395 atC/atT 0 -PRPF31 UCSF GRCh37 19 54634839 54634839 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 48 99 0 ENST00000321030.4:c.1476G>A p.Glu492= p.E492= ENST00000321030 NM_015629.3 492 gaG/gaA 0 -PRPH2 UCSF GRCh37 6 42689649 42689649 + missense_variant Missense_Mutation SNP G G A snp132_rs61755783 P18_Rec Untested WXS Illumina HiSeq 83 89 162 0 ENST00000230381.5:c.424C>T p.Arg142Trp p.R142W ENST00000230381 NM_000322.4 142 Cgg/Tgg 0 -PRR13 UCSF GRCh37 12 53837352 53837352 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 7 25 90 0 ENST00000429243.2:c.197C>T p.Pro66Leu p.P66L ENST00000429243 NM_018457.3 66 cCa/cTa 0 -PRR14 UCSF GRCh37 16 30664424 30664424 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 42 85 0 ENST00000542965.2:c.504G>A p.Glu168= p.E168= ENST00000542965 168 gaG/gaA 0 -PRR14L UCSF GRCh37 22 32111480 32111480 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 129 308 0 ENST00000327423.6:c.2345C>T p.Ser782Phe p.S782F ENST00000327423 NM_173566.2 782 tCt/tTt 0 -PRR3 UCSF GRCh37 6 30529888 30529888 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 73 205 0 ENST00000376560.3:c.447C>T p.Pro149= p.P149= ENST00000376560 NM_025263.3 149 ccC/ccT 0 -PRRC2A UCSF GRCh37 6 31599022 31599022 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 102 73 164 0 ENST00000376033.2:c.2572G>A p.Glu858Lys p.E858K ENST00000376033 NM_004638.3 858 Gaa/Aaa 0 -PRRC2B UCSF GRCh37 9 134350096 134350096 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 80 62 141 0 ENST00000357304.4:c.2580C>T p.Val860= p.V860= ENST00000357304 NM_013318.3 860 gtC/gtT 0 -PRRC2B UCSF GRCh37 9 134362554 134362554 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 45 95 0 ENST00000357304.4:c.5857G>A p.Ala1953Thr p.A1953T ENST00000357304 NM_013318.3 1953 Gcc/Acc 0 -PRRC2C UCSF GRCh37 1 171519286 171519286 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 147 114 237 0 ENST00000338920.4:c.5028G>A p.Leu1676= p.L1676= ENST00000338920 NM_015172.3 1676 ttG/ttA 0 -PRRT2 UCSF GRCh37 16 29824379 29824379 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 44 91 0 ENST00000567659.1:c.4G>A p.Ala2Thr p.A2T ENST00000567659 2 Gca/Aca 0 -PRSS1 UCSF GRCh37 7 142460858 142460858 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 173 107 209 0 ENST00000311737.7:c.731C>T p.Ala244Val p.A244V ENST00000311737 NM_002769.4 244 gCt/gTt 0 -PRSS21 UCSF GRCh37 16 2871579 2871579 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 50 106 0 ENST00000005995.3:c.918G>A p.Trp306Ter p.W306* ENST00000005995 306 tgG/tgA 0 -PRSS27 UCSF GRCh37 16 2763685 2763685 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 27 92 0 ENST00000302641.3:c.523C>T p.Pro175Ser p.P175S ENST00000302641 NM_031948.3 175 Ccg/Tcg 0 -PRSS36 UCSF GRCh37 16 31160803 31160803 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 34 105 1 ENST00000268281.4:c.90G>A p.Gln30= p.Q30= ENST00000268281 NM_173502.4 30 caG/caA 0 -PRSS48 UCSF GRCh37 4 152203454 152203454 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 180 327 0 ENST00000455694.2:c.370G>A p.Val124Ile p.V124I ENST00000455694 NM_183375.2 124 Gtc/Atc 0 -PSAP UCSF GRCh37 10 73594165 73594165 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 42 69 0 ENST00000394936.3:c.138G>A p.Lys46= p.K46= ENST00000394936 46 aaG/aaA 0 -PSAP UCSF GRCh37 10 73579249 73579249 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 48 143 0 ENST00000394936.3:c.1323C>T p.Ser441= p.S441= ENST00000394936 441 agC/agT 0 -PSD2 UCSF GRCh37 5 139219697 139219697 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 54 122 0 ENST00000274710.3:c.2054G>A p.Gly685Asp p.G685D ENST00000274710 NM_032289.2 685 gGc/gAc 0 -PSD3 UCSF GRCh37 8 18413857 18413857 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 113 242 0 ENST00000327040.8:c.2790G>A p.Glu930= p.E930= ENST00000327040 NM_015310.3 930 gaG/gaA 0 -PSD4 UCSF GRCh37 2 113953307 113953307 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 59 160 0 ENST00000245796.6:c.2185C>T p.Leu729Phe p.L729F ENST00000245796 NM_012455.2 729 Ctc/Ttc 0 -PSEN1 UCSF GRCh37 14 73683941 73683941 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 138 95 169 0 ENST00000324501.5:c.1237G>A p.Ala413Thr p.A413T ENST00000324501 NM_000021.3 413 Gcc/Acc 0 -PSMB1 UCSF GRCh37 6 170858151 170858151 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 61 108 0 ENST00000262193.6:c.164C>T p.Thr55Ile p.T55I ENST00000262193 NM_002793.3 55 aCt/aTt 0 -PSMB8 UCSF GRCh37 6 32809339 32809339 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 144 101 213 0 ENST00000374882.3:c.711C>T p.His237= p.H237= ENST00000374882 NM_148919.3 237 caC/caT 0 -PSMC1 UCSF GRCh37 14 90725515 90725515 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 43 118 0 ENST00000261303.8:c.15G>A p.Gln5= p.Q5= ENST00000261303 NM_002802.2 5 caG/caA 0 -PTBP1 UCSF GRCh37 19 806408 806408 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 21 19 0 ENST00000356948.6:c.971G>A p.Gly324Asp p.G324D ENST00000356948 NM_002819.4 324 gGc/gAc 0 -PTCHD1 UCSF GRCh37 X 23410906 23410906 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 143 151 1 ENST00000379361.4:c.1271G>A p.Ser424Asn p.S424N ENST00000379361 NM_173495.2 424 aGc/aAc 0 -PTCHD2 UCSF GRCh37 1 11579791 11579791 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 67 139 0 ENST00000294484.6:c.2054G>A p.Gly685Glu p.G685E ENST00000294484 NM_020780.1 685 gGa/gAa 0 -PTCRA UCSF GRCh37 6 42890938 42890938 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 70 155 0 ENST00000304672.1:c.232C>T p.Pro78Ser p.P78S ENST00000304672 NM_001243168.1 78 Cct/Tct 0 -PTDSS2 UCSF GRCh37 11 489641 489641 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 5 9 26 0 ENST00000308020.5:c.1023C>T p.Pro341= p.P341= ENST00000308020 NM_030783.1 341 ccC/ccT 0 -PTGS2 UCSF GRCh37 1 186647536 186647536 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 42 145 0 ENST00000367468.5:c.314C>T p.Ser105Phe p.S105F ENST00000367468 NM_000963.2 105 tCc/tTc 0 -PTPN12 UCSF GRCh37 7 77247874 77247874 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 129 106 226 0 ENST00000248594.6:c.1017G>A p.Arg339= p.R339= ENST00000248594 NM_002835.3 339 agG/agA 0 -PTPN13 UCSF GRCh37 4 87706518 87706518 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 77 57 115 0 ENST00000436978.1:c.6268C>T p.Pro2090Ser p.P2090S ENST00000436978 NM_080685.2 2090 Cca/Tca 0 -PTPN13 UCSF GRCh37 4 87732259 87732259 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 76 53 115 0 ENST00000436978.1:c.7375G>A p.Glu2459Lys p.E2459K ENST00000436978 NM_080685.2 2459 Gag/Aag 0 -PTPN14 UCSF GRCh37 1 214557113 214557113 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 42 39 94 0 ENST00000366956.5:c.2085G>A p.Lys695= p.K695= ENST00000366956 NM_005401.4 695 aaG/aaA 0 -PTPN23 UCSF GRCh37 3 47449443 47449443 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 21 19 47 0 ENST00000265562.4:c.1182G>A p.Leu394= p.L394= ENST00000265562 NM_015466.2 394 ctG/ctA 0 -PTPRA UCSF GRCh37 20 2968684 2968684 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 147 121 265 0 ENST00000380393.3:c.534G>A p.Lys178= p.K178= ENST00000380393 NM_002836.3 178 aaG/aaA 0 -PTPRD UCSF GRCh37 9 8518354 8518354 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 97 147 0 ENST00000356435.5:c.1037G>A p.Gly346Glu p.G346E ENST00000356435 346 gGg/gAg 0 -PTPRK UCSF GRCh37 6 128302298 128302298 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 44 104 0 ENST00000368213.5:c.3692G>A p.Gly1231Glu p.G1231E ENST00000368213 NM_001135648.1 1231 gGg/gAg 0 -PTPRM UCSF GRCh37 18 7955142 7955142 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 80 45 149 0 ENST00000580170.1:c.862C>T p.Pro288Ser p.P288S ENST00000580170 NM_001105244.1 288 Cct/Tct 0 -PTPRN UCSF GRCh37 2 220155002 220155002 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 23 55 0 ENST00000295718.2:c.2886C>T p.Ala962= p.A962= ENST00000295718 NM_002846.3 962 gcC/gcT 0 -PTPRT UCSF GRCh37 20 40790034 40790034 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 61 145 0 ENST00000373198.4:c.2697G>A p.Gln899= p.Q899= ENST00000373198 NM_133170.3 899 caG/caA 0 -PTPRZ1 UCSF GRCh37 7 121653306 121653306 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 128 105 234 0 ENST00000393386.2:c.4206G>A p.Leu1402= p.L1402= ENST00000393386 NM_001206838.1 1402 ctG/ctA 0 -PUF60 UCSF GRCh37 8 144898928 144898928 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 104 180 0 ENST00000526683.1:c.1442G>A p.Gly481Glu p.G481E ENST00000526683 NM_001271098.1 481 gGg/gAg 0 -PVRL3 UCSF GRCh37 3 110830999 110830999 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 75 191 0 ENST00000485303.1:c.283C>T p.His95Tyr p.H95Y ENST00000485303 NM_001243286.1 95 Cat/Tat 0 -PWP2 UCSF GRCh37 21 45542135 45542135 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 80 160 0 ENST00000291576.7:c.1714C>T p.Pro572Ser p.P572S ENST00000291576 NM_005049.2 572 Cct/Tct 0 -PWP2 UCSF GRCh37 21 45535238 45535238 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 127 86 189 0 ENST00000291576.7:c.564G>A p.Lys188= p.K188= ENST00000291576 NM_005049.2 188 aaG/aaA 0 -PXDN UCSF GRCh37 2 1670193 1670193 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 6 25 55 0 ENST00000252804.4:c.1084G>A p.Glu362Lys p.E362K ENST00000252804 NM_012293.1 362 Gag/Aag 0 -PYGM UCSF GRCh37 11 64514753 64514753 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 38 126 0 ENST00000164139.3:c.2255C>T p.Ser752Phe p.S752F ENST00000164139 NM_005609.2 752 tCc/tTc 0 -PYHIN1 UCSF GRCh37 1 158906715 158906715 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 65 133 0 ENST00000368140.1:c.15C>T p.Tyr5= p.Y5= ENST00000368140 NM_152501.4 5 taC/taT 0 -PYHIN1 UCSF GRCh37 1 158946491 158946491 + splice_region_variant,3_prime_UTR_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 140 80 198 0 ENST00000368140.1:c.*6G>A p.X2_splice ENST00000368140 NM_152501.4 0 -PYROXD2 UCSF GRCh37 10 100143560 100143560 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 131 93 201 0 ENST00000370575.4:c.1741A>G p.Met581Val p.M581V ENST00000370575 NM_032709.2 581 Atg/Gtg 0 -RAB11FIP5 UCSF GRCh37 2 73316440 73316440 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 132 97 184 0 ENST00000258098.6:c.435G>A p.Trp145Ter p.W145* ENST00000258098 NM_015470.2 145 tgG/tgA 0 -RAB18 UCSF GRCh37 10 27821451 27821451 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 315 128 219 0 ENST00000356940.6:c.202G>A p.Glu68Lys p.E68K ENST00000356940 NM_001256410.1 68 Gag/Aag 0 -RAB19 UCSF GRCh37 7 140125911 140125911 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 52 132 0 ENST00000537763.1:c.615G>A p.Met205Ile p.M205I ENST00000537763 NM_001008749.2 205 atG/atA 0 -RAB20 UCSF GRCh37 13 111176438 111176438 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 52 128 0 ENST00000267328.3:c.279C>T p.Asp93= p.D93= ENST00000267328 NM_017817.1 93 gaC/gaT 0 -RAB26 UCSF GRCh37 16 2198927 2198927 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 7 15 11 0 ENST00000210187.6:c.143C>T p.Pro48Leu p.P48L ENST00000210187 NM_014353.4 48 cCc/cTc 0 -RAB3D UCSF GRCh37 19 11446138 11446138 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 35 62 0 ENST00000222120.3:c.457C>T p.Leu153Phe p.L153F ENST00000222120 NM_004283.3 153 Ctc/Ttc 0 -RAB40AL UCSF GRCh37 X 102192759 102192759 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 49 77 0 ENST00000218249.5:c.513C>T p.Ala171= p.A171= ENST00000218249 NM_001031834.1 171 gcC/gcT 0 -RAD1 UCSF GRCh37 5 34908987 34908987 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 152 113 245 0 ENST00000382038.2:c.732G>A p.Arg244= p.R244= ENST00000382038 NM_002853.3 244 cgG/cgA 0 -RAD18 UCSF GRCh37 3 8940731 8940731 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 193 56 105 0 ENST00000264926.2:c.1169G>A p.Gly390Glu p.G390E ENST00000264926 NM_020165.3 390 gGa/gAa 0 -RAD9B UCSF GRCh37 12 110960024 110960024 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 122 98 217 0 ENST00000392672.4:c.933C>T p.Gly311= p.G311= ENST00000392672 NM_152442.3 311 ggC/ggT 0 -RAET1E UCSF GRCh37 6 150210512 150210512 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 55 128 0 ENST00000357183.4:c.594G>A p.Gly198= p.G198= ENST00000357183 NM_139165.2 198 ggG/ggA 0 -RAI1 UCSF GRCh37 17 17697865 17697865 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 59 52 94 0 ENST00000353383.1:c.1603G>A p.Ala535Thr p.A535T ENST00000353383 NM_030665.3 535 Gcc/Acc 0 -RALA UCSF GRCh37 7 39726287 39726287 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 64 158 0 ENST00000005257.2:c.21G>A p.Lys7= p.K7= ENST00000005257 NM_005402.3 7 aaG/aaA 0 -RANBP17 UCSF GRCh37 5 170640635 170640635 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 132 76 151 0 ENST00000523189.1:c.2232G>A p.Met744Ile p.M744I ENST00000523189 NM_022897.3 744 atG/atA 0 -RANBP2 UCSF GRCh37 2 109398766 109398766 + synonymous_variant Silent SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 130 115 253 0 ENST00000283195.6:c.8943G>A p.Val2981= p.V2981= ENST00000283195 NM_006267.4 2981 gtG/gtA 0 -RANBP2 UCSF GRCh37 2 109392223 109392223 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 121 84 221 0 ENST00000283195.6:c.8328C>T p.Asp2776= p.D2776= ENST00000283195 NM_006267.4 2776 gaC/gaT 0 -RANBP2 UCSF GRCh37 2 109382380 109382380 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 132 90 216 0 ENST00000283195.6:c.5385G>A p.Glu1795= p.E1795= ENST00000283195 NM_006267.4 1795 gaG/gaA 0 -RAP1GAP2 UCSF GRCh37 17 2901517 2901517 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 193 123 291 0 ENST00000254695.8:c.1047C>T p.Leu349= p.L349= ENST00000254695 NM_015085.4 349 ctC/ctT 0 -RAP1GDS1 UCSF GRCh37 4 99264359 99264359 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Rec Untested WXS Illumina HiSeq 113 106 177 1 ENST00000339360.5:c.185A>C p.Gln62Pro p.Q62P ENST00000339360 62 cAg/cCg 0 -RAPGEF1 UCSF GRCh37 9 134463203 134463203 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 52 104 0 ENST00000372190.3:c.2649G>A p.Leu883= p.L883= ENST00000372190 NM_198679.1 883 ttG/ttA 0 -RAPGEF2 UCSF GRCh37 4 160277170 160277170 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 20 62 0 ENST00000264431.4:c.4334C>T p.Ala1445Val p.A1445V ENST00000264431 NM_014247.2 1445 gCt/gTt 0 -RAPH1 UCSF GRCh37 2 204304764 204304764 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 56 118 0 ENST00000319170.5:c.3149C>T p.Ala1050Val p.A1050V ENST00000319170 NM_213589.1 1050 gCc/gTc 0 -RAPH1 UCSF GRCh37 2 204306084 204306084 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 17 23 0 ENST00000319170.5:c.1829C>T p.Ser610Phe p.S610F ENST00000319170 NM_213589.1 610 tCc/tTc 0 -RASAL1 UCSF GRCh37 12 113573235 113573235 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 14 16 16 0 ENST00000546530.1:c.33G>A p.Val11= p.V11= ENST00000546530 NM_004658.2 11 gtG/gtA 0 -RAVER2 UCSF GRCh37 1 65278515 65278515 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 60 117 0 ENST00000371072.4:c.1736C>T p.Pro579Leu p.P579L ENST00000371072 NM_018211.3 579 cCc/cTc 0 -RBCK1 UCSF GRCh37 20 390563 390563 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 82 208 0 ENST00000356286.5:c.61G>A p.Gly21Ser p.G21S ENST00000356286 NM_031229.2 21 Ggc/Agc 0 -RBFOX1 UCSF GRCh37 16 7568257 7568257 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 208 92 195 0 ENST00000311745.5:c.196C>T p.Pro66Ser p.P66S ENST00000311745 NM_145891.2 66 Ccc/Tcc 0 -RBM12 UCSF GRCh37 20 34241744 34241744 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 200 141 280 0 ENST00000374114.3:c.1501C>T p.Gln501Ter p.Q501* ENST00000374114 NM_001198838.1 501 Caa/Taa 0 -RBM14 UCSF GRCh37 11 66392770 66392770 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 126 103 192 0 ENST00000310137.4:c.1423G>A p.Gly475Arg p.G475R ENST00000310137 NM_006328.3 475 Ggg/Agg 0 -RBM15 UCSF GRCh37 1 110883854 110883854 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 49 38 67 0 ENST00000369784.3:c.1827G>A p.Glu609= p.E609= ENST00000369784 NM_022768.4 609 gaG/gaA 0 -RBM19 UCSF GRCh37 12 114377894 114377894 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 56 153 0 ENST00000545145.2:c.1809G>A p.Leu603= p.L603= ENST00000545145 NM_001146699.1 603 ctG/ctA 0 -RBM26 UCSF GRCh37 13 79932554 79932554 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 36 115 0 ENST00000267229.7:c.1544G>A p.Arg515Lys p.R515K ENST00000267229 NM_022118.3 515 aGa/aAa 0 -RBMS2 UCSF GRCh37 12 56975264 56975264 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 25 54 113 0 ENST00000262031.5:c.704G>A p.Gly235Glu p.G235E ENST00000262031 NM_002898.3 235 gGa/gAa 0 -RBP3 UCSF GRCh37 10 48388215 48388215 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 26 71 0 ENST00000224600.4:c.2663C>T p.Pro888Leu p.P888L ENST00000224600 NM_002900.2 888 cCc/cTc 0 -RBPJL UCSF GRCh37 20 43942178 43942178 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 22 44 0 ENST00000343694.3:c.690C>T p.Tyr230= p.Y230= ENST00000343694 NM_001281449.1 230 taC/taT 0 -RCOR1 UCSF GRCh37 14 103188554 103188554 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 78 186 0 ENST00000262241.6:c.1220C>T p.Ala407Val p.A407V ENST00000262241 NM_015156.3 407 gCa/gTa 0 -RDX UCSF GRCh37 11 110124675 110124675 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 65 142 0 ENST00000405097.1:c.955G>A p.Glu319Lys p.E319K ENST00000405097 NM_001260492.1 319 Gaa/Aaa 0 -RECK UCSF GRCh37 9 36112353 36112353 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 61 112 0 ENST00000377966.3:c.1940G>A p.Gly647Glu p.G647E ENST00000377966 NM_021111.2 647 gGg/gAg 0 -RECK UCSF GRCh37 9 36118754 36118754 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 42 84 0 ENST00000377966.3:c.2254C>T p.Pro752Ser p.P752S ENST00000377966 NM_021111.2 752 Ccc/Tcc 0 -REEP1 UCSF GRCh37 2 86444230 86444230 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 44 95 0 ENST00000538924.1:c.620C>T p.Thr207Ile p.T207I ENST00000538924 NM_001164730.1 207 aCc/aTc 0 -REEP5 UCSF GRCh37 5 112257851 112257851 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 13 38 0 ENST00000379638.4:c.37C>T p.Leu13= p.L13= ENST00000379638 NM_005669.4 13 Ctg/Ttg 0 -RELB UCSF GRCh37 19 45537734 45537734 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 18 63 0 ENST00000221452.8:c.1302G>A p.Arg434= p.R434= ENST00000221452 NM_006509.3 434 cgG/cgA 0 -REM2 UCSF GRCh37 14 23354170 23354170 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 51 87 0 ENST00000267396.4:c.391G>A p.Ala131Thr p.A131T ENST00000267396 NM_173527.2 131 Gca/Aca 0 -REV3L UCSF GRCh37 6 111694354 111694354 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 154 121 213 0 ENST00000358835.3:c.5204G>A p.Ser1735Asn p.S1735N ENST00000358835 1735 aGc/aAc 0 -REV3L UCSF GRCh37 6 111678216 111678216 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 83 208 0 ENST00000358835.3:c.7184+1G>A p.X2395_splice ENST00000358835 0 -RFPL2 UCSF GRCh37 22 32588955 32588955 + missense_variant Missense_Mutation SNP T T A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 99 212 0 ENST00000400237.1:c.490A>T p.Ile164Phe p.I164F ENST00000400237 164 Atc/Ttc 0 -RGNEF UCSF GRCh37 5 73072480 73072480 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 233 141 367 0 ENST00000545377.1:c.799C>T p.Leu267Phe p.L267F ENST00000545377 NM_001080479.2 267 Ctc/Ttc 0 -RGS10 UCSF GRCh37 10 121285617 121285617 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P18_Rec Untested WXS Illumina HiSeq 30 0 ENST00000369103.2:c.182del p.Lys61ArgfsTer12 p.K61Rfs*12 ENST00000369103 NM_001005339.1 61 aAg/ag 0 -RGS20 UCSF GRCh37 8 54791981 54791981 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 38 94 0 ENST00000297313.3:c.329C>T p.Ala110Val p.A110V ENST00000297313 NM_170587.2 110 gCc/gTc 0 -RGS22 UCSF GRCh37 8 101076176 101076176 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 153 105 244 0 ENST00000360863.6:c.820G>A p.Glu274Lys p.E274K ENST00000360863 NM_015668.3 274 Gaa/Aaa 0 -RHBDF2 UCSF GRCh37 17 74469187 74469187 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 35 61 0 ENST00000313080.4:c.1897G>A p.Val633Met p.V633M ENST00000313080 NM_024599.5 633 Gtg/Atg 0 -RHCE UCSF GRCh37 1 25715505 25715505 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 51 140 0 ENST00000294413.7:c.901G>A p.Ala301Thr p.A301T ENST00000294413 NM_020485.4 301 Gct/Act 0 -RHOBTB1 UCSF GRCh37 10 62670645 62670645 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 43 112 0 ENST00000337910.5:c.296G>A p.Arg99Lys p.R99K ENST00000337910 NM_001242359.1 99 aGg/aAg 0 -RHOBTB2 UCSF GRCh37 8 22868171 22868171 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 101 198 0 ENST00000519685.1:c.1807C>T p.Leu603Phe p.L603F ENST00000519685 NM_001160036.1 603 Ctc/Ttc 0 -RHPN1 UCSF GRCh37 8 144462236 144462236 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 15 28 0 ENST00000289013.6:c.1107G>A p.Ala369= p.A369= ENST00000289013 NM_052924.2 369 gcG/gcA 0 -RIMS1 UCSF GRCh37 6 72892596 72892596 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 11 14 0 ENST00000521978.1:c.1422C>T p.Ser474= p.S474= ENST00000521978 NM_014989.5 474 agC/agT 0 -RIN2 UCSF GRCh37 20 19970700 19970700 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 46 112 0 ENST00000255006.6:c.1960G>A p.Gly654Arg p.G654R ENST00000255006 NM_018993.3 654 Ggg/Agg 0 -RIN2 UCSF GRCh37 20 19945668 19945668 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 173 130 267 0 ENST00000255006.6:c.683G>A p.Arg228Lys p.R228K ENST00000255006 NM_018993.3 228 aGg/aAg 0 -RING1 UCSF GRCh37 6 33179242 33179242 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 8 24 0 ENST00000374656.4:c.763C>T p.Pro255Ser p.P255S ENST00000374656 NM_002931.3 255 Ccc/Tcc 0 -RIPK4 UCSF GRCh37 21 43161833 43161833 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 64 47 118 0 ENST00000332512.3:c.1520C>T p.Ala507Val p.A507V ENST00000332512 NM_020639.2 507 gCc/gTc 0 -RIPK4 UCSF GRCh37 21 43171318 43171318 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 68 129 0 ENST00000332512.3:c.562C>T p.Leu188Phe p.L188F ENST00000332512 NM_020639.2 188 Ctc/Ttc 0 -RLF UCSF GRCh37 1 40688383 40688383 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 69 180 0 ENST00000372771.4:c.947+1G>A p.X316_splice ENST00000372771 NM_012421.3 0 -RLN3 UCSF GRCh37 19 14141712 14141712 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 43 157 0 ENST00000431365.2:c.381C>T p.Ser127= p.S127= ENST00000431365 NM_080864.2 127 agC/agT 0 -RLTPR UCSF GRCh37 16 67690536 67690536 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 29 64 0 ENST00000334583.6:c.4024C>T p.Pro1342Ser p.P1342S ENST00000334583 NM_001013838.1 1342 Ccc/Tcc 0 -RNF123 UCSF GRCh37 3 49750002 49750002 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 56 121 0 ENST00000327697.6:c.2587C>T p.Pro863Ser p.P863S ENST00000327697 NM_022064.3 863 Ccc/Tcc 0 -RNF168 UCSF GRCh37 3 196229968 196229968 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 57 129 0 ENST00000318037.3:c.77C>T p.Pro26Leu p.P26L ENST00000318037 NM_152617.3 26 cCc/cTc 0 -RNF208 UCSF GRCh37 9 140114906 140114906 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 8 12 0 ENST00000392827.1:c.759C>T p.Asn253= p.N253= ENST00000392827 253 aaC/aaT 0 -RNF25 UCSF GRCh37 2 219528704 219528704 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 72 150 0 ENST00000295704.2:c.1356C>T p.Gly452= p.G452= ENST00000295704 NM_022453.2 452 ggC/ggT 0 -RNF32 UCSF GRCh37 7 156437244 156437244 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 63 101 0 ENST00000405335.1:c.67G>A p.Asp23Asn p.D23N ENST00000405335 23 Gat/Aat 0 -RP1L1 UCSF GRCh37 8 10468205 10468205 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 69 174 0 ENST00000382483.3:c.3403C>T p.Pro1135Ser p.P1135S ENST00000382483 NM_178857.5 1135 Cct/Tct 0 -RPL21 UCSF GRCh37 13 27830577 27830577 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 51 117 0 ENST00000311549.6:c.398C>T p.Ala133Val p.A133V ENST00000311549 NM_000982.3 133 gCt/gTt 0 -RPL22L1 UCSF GRCh37 3 170584270 170584270 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 83 61 141 0 ENST00000295830.8:c.268C>T p.Leu90Phe p.L90F ENST00000295830 NM_001099645.1 90 Ctt/Ttt 0 -RPL5 UCSF GRCh37 1 93300406 93300406 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 200 133 278 0 ENST00000370321.3:c.260G>A p.Gly87Asp p.G87D ENST00000370321 NM_000969.3 87 gGt/gAt 0 -RPL5 UCSF GRCh37 1 93301773 93301773 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 160 99 254 0 ENST00000370321.3:c.351G>A p.Lys117= p.K117= ENST00000370321 NM_000969.3 117 aaG/aaA 0 -RPL8 UCSF GRCh37 8 146017481 146017481 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 24 11 37 0 ENST00000262584.3:c.34G>A p.Ala12Thr p.A12T ENST00000262584 NM_000973.3 12 Gcc/Acc 0 -RPLP0 UCSF GRCh37 12 120637204 120637204 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 62 142 0 ENST00000551150.1:c.139C>T p.Leu47Phe p.L47F ENST00000551150 47 Ctt/Ttt 0 -RPP38 UCSF GRCh37 10 15145394 15145394 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 238 92 190 0 ENST00000378197.4:c.81C>T p.Asn27= p.N27= ENST00000378197 NM_183005.4 27 aaC/aaT 0 -RPS10 UCSF GRCh37 6 34389575 34389575 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 143 125 213 0 ENST00000326199.8:c.332G>A p.Gly111Asp p.G111D ENST00000326199 NM_001014.4 111 gGt/gAt 0 -RPS6KA4 UCSF GRCh37 11 64129475 64129475 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 34 91 0 ENST00000334205.4:c.906+1G>A p.X302_splice ENST00000334205 NM_003942.2 0 -RRP15 UCSF GRCh37 1 218480844 218480844 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 72 137 0 ENST00000366932.3:c.575G>A p.Gly192Glu p.G192E ENST00000366932 NM_016052.3 192 gGa/gAa 0 -RSAD1 UCSF GRCh37 17 48559649 48559649 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 43 100 0 ENST00000258955.2:c.672C>T p.Ser224= p.S224= ENST00000258955 NM_018346.1 224 tcC/tcT 0 -RSPH10B UCSF GRCh37 7 5967960 5967960 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 583 156 606 0 ENST00000405415.1:c.2299G>A p.Val767Ile p.V767I ENST00000405415 767 Gtc/Atc 0 -RSU1 UCSF GRCh37 10 16794618 16794618 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 293 169 279 0 ENST00000377921.3:c.518C>T p.Pro173Leu p.P173L ENST00000377921 173 cCt/cTt 0 -RTCD1 UCSF GRCh37 1 100757039 100757039 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 158 114 257 0 ENST00000260563.4:c.1119G>A p.Gly373= p.G373= ENST00000260563 NM_001130841.1 373 ggG/ggA 0 -RTL1 UCSF GRCh37 14 101348097 101348097 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 80 187 0 ENST00000534062.1:c.3029C>T p.Ala1010Val p.A1010V ENST00000534062 NM_001134888.2 1010 gCc/gTc 0 -RUFY2 UCSF GRCh37 10 70115139 70115139 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 21 108 0 ENST00000388768.2:c.1675G>A p.Asp559Asn p.D559N ENST00000388768 NM_017987.4 559 Gac/Aac 0 -RUSC1 UCSF GRCh37 1 155296523 155296523 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 49 126 0 ENST00000368352.5:c.2014C>T p.Pro672Ser p.P672S ENST00000368352 NM_001105203.1 672 Ccc/Tcc 0 -RYR1 UCSF GRCh37 19 38964107 38964107 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 22 72 0 ENST00000359596.3:c.3856C>T p.Leu1286Phe p.L1286F ENST00000359596 1286 Ctt/Ttt 0 -RYR2 UCSF GRCh37 1 237811891 237811891 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 67 136 0 ENST00000366574.2:c.7490G>A p.Arg2497Gln p.R2497Q ENST00000366574 NM_001035.2 2497 cGg/cAg 0 -RYR3 UCSF GRCh37 15 34023823 34023823 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 186 124 280 0 ENST00000389232.4:c.7352G>A p.Arg2451Lys p.R2451K ENST00000389232 NM_001036.3 2451 aGg/aAg 0 -RYR3 UCSF GRCh37 15 33936690 33936690 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 111 85 221 0 ENST00000389232.4:c.3735C>T p.Val1245= p.V1245= ENST00000389232 NM_001036.3 1245 gtC/gtT 0 -S100A7 UCSF GRCh37 1 153430419 153430419 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 195 30 176 1 ENST00000368723.3:c.169G>A p.Asp57Asn p.D57N ENST00000368723 NM_002963.3 57 Gat/Aat 0 -S100A7 UCSF GRCh37 1 153430418 153430418 + missense_variant Missense_Mutation SNP T T G NOVEL P18_Rec Untested WXS Illumina HiSeq 196 33 178 0 ENST00000368723.3:c.170A>C p.Asp57Ala p.D57A ENST00000368723 NM_002963.3 57 gAt/gCt 0 -S100A7 UCSF GRCh37 1 153430338 153430338 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.003,snp132_rs56232841 P18_Rec Untested WXS Illumina HiSeq 158 52 146 0 ENST00000368723.3:c.250A>G p.Thr84Ala p.T84A ENST00000368723 NM_002963.3 84 Aca/Gca 0 -S100A7 UCSF GRCh37 1 153430309 153430309 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 139 38 125 0 ENST00000368723.3:c.279A>G p.Ala93= p.A93= ENST00000368723 NM_002963.3 93 gcA/gcG 0 -S1PR3 UCSF GRCh37 9 91616518 91616518 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 63 63 138 0 ENST00000375846.3:c.403G>A p.Glu135Lys p.E135K ENST00000375846 135 Gag/Aag 0 -S1PR5 UCSF GRCh37 19 10625409 10625409 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 12 29 0 ENST00000439028.3:c.279C>T p.Ile93= p.I93= ENST00000439028 NM_001166215.1 93 atC/atT 0 -SAFB UCSF GRCh37 19 5653197 5653197 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 58 55 115 0 ENST00000588852.1:c.1365C>T p.Ser455= p.S455= ENST00000588852 455 tcC/tcT 0 -SALL3 UCSF GRCh37 18 76753259 76753259 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 28 29 50 1 ENST00000537592.2:c.1268G>A p.Arg423His p.R423H ENST00000537592 NM_171999.3 423 cGc/cAc 0 -SAMD11 UCSF GRCh37 1 865678 865678 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 5 20 0 ENST00000342066.3:c.216G>A p.Lys72= p.K72= ENST00000342066 NM_152486.2 72 aaG/aaA 0 -SAMD15 UCSF GRCh37 14 77844599 77844599 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 143 129 269 0 ENST00000216471.4:c.838C>T p.Pro280Ser p.P280S ENST00000216471 NM_001010860.1 280 Cct/Tct 0 -SAMD9L UCSF GRCh37 7 92763754 92763754 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 143 99 195 0 ENST00000318238.4:c.1531C>T p.Pro511Ser p.P511S ENST00000318238 NM_152703.2 511 Cct/Tct 0 -SARS2 UCSF GRCh37 19 39421155 39421155 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 49 34 91 0 ENST00000600042.1:c.222G>A p.Leu74= p.L74= ENST00000600042 NM_001145901.1 74 ctG/ctA 0 -SART1 UCSF GRCh37 11 65743941 65743941 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 27 17 54 0 ENST00000312397.5:c.1648G>A p.Ala550Thr p.A550T ENST00000312397 NM_005146.4 550 Gcc/Acc 0 -SBF1 UCSF GRCh37 22 50893824 50893824 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 29 23 58 0 ENST00000380817.3:c.4383G>A p.Val1461= p.V1461= ENST00000380817 NM_002972.2 1461 gtG/gtA 0 -SBK2 UCSF GRCh37 19 56041272 56041272 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 6 15 0 ENST00000413299.1:c.875C>T p.Pro292Leu p.P292L ENST00000413299 NM_001101401.2 292 cCc/cTc 0 -SCAI UCSF GRCh37 9 127783049 127783049 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 76 164 0 ENST00000373549.4:c.582-1G>A p.X194_splice ENST00000373549 NM_173690.4 0 -SCAPER UCSF GRCh37 15 77067433 77067433 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 136 82 189 0 ENST00000563290.1:c.798G>A p.Glu266= p.E266= ENST00000563290 266 gaG/gaA 0 -SCLY UCSF GRCh37 2 238973011 238973011 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 41 119 0 ENST00000254663.6:c.127G>A p.Asp43Asn p.D43N ENST00000254663 NM_016510.5 43 Gac/Aac 0 -SCN3A UCSF GRCh37 2 166003442 166003442 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 162 104 243 0 ENST00000283254.7:c.1478C>T p.Ser493Phe p.S493F ENST00000283254 NM_001081676.1 493 tCc/tTc 0 -SCNN1D UCSF GRCh37 1 1223152 1223152 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 6 13 0 ENST00000379116.5:c.1499C>T p.Pro500Leu p.P500L ENST00000379116 NM_001130413.3 500 cCc/cTc 0 -SCO2 UCSF GRCh37 22 50962564 50962564 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 43 81 0 ENST00000543927.1:c.277G>A p.Ala93Thr p.A93T ENST00000543927 NM_001169109.1 93 Gcc/Acc 0 -SCOC UCSF GRCh37 4 141300319 141300319 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 199 142 313 0 ENST00000608372.1:c.226C>T p.Pro76Ser p.P76S ENST00000608372 76 Ccc/Tcc 0 -SCRIB UCSF GRCh37 8 144873903 144873903 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 19 48 0 ENST00000356994.2:c.4703C>T p.Ser1568Phe p.S1568F ENST00000356994 NM_182706.4 1568 tCt/tTt 0 -SCYL1 UCSF GRCh37 11 65293669 65293669 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 33 71 0 ENST00000270176.5:c.450C>T p.Asp150= p.D150= ENST00000270176 NM_020680.3 150 gaC/gaT 0 -SDC4 UCSF GRCh37 20 43964433 43964433 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 54 122 0 ENST00000372733.3:c.188C>T p.Ser63Phe p.S63F ENST00000372733 NM_002999.3 63 tCt/tTt 0 -SDCCAG3 UCSF GRCh37 9 139301615 139301615 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 22 78 0 ENST00000357365.3:c.801G>A p.Leu267= p.L267= ENST00000357365 NM_001039707.1 267 ctG/ctA 0 -SDK1 UCSF GRCh37 7 4119212 4119212 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 68 168 0 ENST00000404826.2:c.3320G>A p.Gly1107Glu p.G1107E ENST00000404826 NM_152744.3 1107 gGg/gAg 0 -SEBOX UCSF GRCh37 17 26691913 26691913 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 30 58 0 ENST00000555059.2:c.394G>A p.Gly132Arg p.G132R ENST00000555059 132 Gga/Aga 0 -SEC11A UCSF GRCh37 15 85223946 85223946 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 158 111 232 0 ENST00000268220.7:c.429G>A p.Arg143= p.R143= ENST00000268220 NM_014300.3 143 agG/agA 0 -SEC13 UCSF GRCh37 3 10346745 10346745 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 40 87 0 ENST00000350697.3:c.680C>T p.Pro227Leu p.P227L ENST00000350697 NM_183352.2 227 cCc/cTc 0 -SEC14L6 UCSF GRCh37 22 30921822 30921822 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 40 111 0 ENST00000402034.2:c.762C>T p.Cys254= p.C254= ENST00000402034 NM_001193336.2 254 tgC/tgT 0 -SEC16A UCSF GRCh37 9 139361486 139361486 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 86 178 0 ENST00000313050.7:c.3852C>T p.Pro1284= p.P1284= ENST00000313050 NM_014866.1 1284 ccC/ccT 0 -SEC22A UCSF GRCh37 3 122928095 122928095 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 79 162 0 ENST00000309934.4:c.31C>T p.Arg11Cys p.R11C ENST00000309934 NM_012430.4 11 Cgt/Tgt 0 -SEC24B UCSF GRCh37 4 110394304 110394304 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 83 171 0 ENST00000265175.5:c.1022C>T p.Thr341Ile p.T341I ENST00000265175 NM_006323.2 341 aCc/aTc 0 -SEC24D UCSF GRCh37 4 119718875 119718875 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 69 158 0 ENST00000280551.6:c.1004C>T p.Ala335Val p.A335V ENST00000280551 335 gCt/gTt 0 -SEC31A UCSF GRCh37 4 83799897 83799897 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 71 150 0 ENST00000395310.2:c.388G>A p.Val130Met p.V130M ENST00000395310 NM_001077207.2 130 Gtg/Atg 0 -SEC31B UCSF GRCh37 10 102258480 102258480 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 75 146 0 ENST00000370345.3:c.1666G>A p.Glu556Lys p.E556K ENST00000370345 NM_015490.3 556 Gag/Aag 0 -SEC61A1 UCSF GRCh37 3 127785931 127785931 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 142 94 194 0 ENST00000243253.3:c.912C>T p.Ile304= p.I304= ENST00000243253 NM_013336.3 304 atC/atT 0 -SELE UCSF GRCh37 1 169698710 169698710 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 91 175 0 ENST00000333360.7:c.820G>A p.Glu274Lys p.E274K ENST00000333360 NM_000450.2 274 Gaa/Aaa 0 -SELV UCSF GRCh37 19 40009788 40009788 + stop_retained_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 37 35 74 0 ENST00000335426.4:c.1041G>A p.Ter347= p.*347= ENST00000335426 NM_182704.1 347 taG/taA 0 -SEMA3E UCSF GRCh37 7 83047781 83047781 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 36 61 0 ENST00000307792.3:c.475G>A p.Glu159Lys p.E159K ENST00000307792 NM_012431.2 159 Gaa/Aaa 0 -SEMA4A UCSF GRCh37 1 156128558 156128558 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 156 99 220 0 ENST00000368285.3:c.511G>A p.Glu171Lys p.E171K ENST00000368285 NM_001193300.1 171 Gag/Aag 0 -SEMA4B UCSF GRCh37 15 90764230 90764230 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 47 98 0 ENST00000411539.2:c.500C>T p.Thr167Ile p.T167I ENST00000411539 NM_198925.2 167 aCc/aTc 0 -SEMA4C UCSF GRCh37 2 97529843 97529843 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 24 60 0 ENST00000305476.5:c.1150C>T p.Leu384= p.L384= ENST00000305476 NM_017789.4 384 Ctg/Ttg 0 -SEMA4D UCSF GRCh37 9 91978436 91978436 + downstream_gene_variant 3'Flank SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 26 60 0 ENST00000375807 NM_024077.3 0 -SEMA5A UCSF GRCh37 5 9122932 9122932 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 47 117 0 ENST00000382496.5:c.1617G>A p.Val539= p.V539= ENST00000382496 NM_003966.2 539 gtG/gtA 0 -SEMA6C UCSF GRCh37 1 151105838 151105838 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 8 19 0 ENST00000368913.3:c.2011G>A p.Asp671Asn p.D671N ENST00000368913 NM_001178061.1 671 Gac/Aac 0 -SEMA6D UCSF GRCh37 15 48056446 48056446 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 83 151 0 ENST00000316364.5:c.1041G>A p.Gln347= p.Q347= ENST00000316364 NM_153618.1 347 caG/caA 0 -SEMG2 UCSF GRCh37 20 43852008 43852008 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 58 138 0 ENST00000372769.3:c.1735C>T p.Pro579Ser p.P579S ENST00000372769 NM_003008.2 579 Cca/Tca 0 -SEPN1 UCSF GRCh37 1 26131720 26131720 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 59 146 0 ENST00000361547.2:c.491C>T p.Pro164Leu p.P164L ENST00000361547 NM_020451.2 164 cCt/cTt 0 -SEPT1 UCSF GRCh37 16 30392662 30392662 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 74 94 0 ENST00000321367.3:c.579G>A p.Arg193= p.R193= ENST00000321367 NM_052838.4 193 cgG/cgA 0 -SEPT3 UCSF GRCh37 22 42388723 42388723 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 13 45 0 ENST00000396426.3:c.821G>A p.Gly274Asp p.G274D ENST00000396426 NM_145733.2 274 gGc/gAc 0 -SEPT3 UCSF GRCh37 22 42382070 42382070 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 29 57 0 ENST00000396426.3:c.285G>A p.Arg95= p.R95= ENST00000396426 NM_145733.2 95 cgG/cgA 0 -SERAC1 UCSF GRCh37 6 158576362 158576362 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 39 90 0 ENST00000367104.3:c.113G>A p.Gly38Glu p.G38E ENST00000367104 NM_032861.3 38 gGa/gAa 0 -SERPINB12 UCSF GRCh37 18 61228327 61228327 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 139 111 262 0 ENST00000269491.1:c.394G>A p.Asp132Asn p.D132N ENST00000269491 NM_080474.1 132 Gat/Aat 0 -SERPINB3 UCSF GRCh37 18 61323037 61323037 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 144 104 202 0 ENST00000283752.5:c.1027G>A p.Ala343Thr p.A343T ENST00000283752 NM_006919.2 343 Gct/Act 0 -SERPINF1 UCSF GRCh37 17 1675304 1675304 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 36 107 0 ENST00000254722.4:c.578C>T p.Ala193Val p.A193V ENST00000254722 NM_002615.5 193 gCc/gTc 0 -SETBP1 UCSF GRCh37 18 42531407 42531407 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 61 107 0 ENST00000282030.5:c.2102G>A p.Gly701Glu p.G701E ENST00000282030 NM_015559.2 701 gGg/gAg 0 -SETD1A UCSF GRCh37 16 30977303 30977303 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 54 143 0 ENST00000262519.8:c.2101G>A p.Ala701Thr p.A701T ENST00000262519 NM_014712.1 701 Gcc/Acc 0 -SETMAR UCSF GRCh37 3 4355176 4355176 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 352 86 190 0 ENST00000358065.4:c.751G>A p.Asp251Asn p.D251N ENST00000358065 NM_006515.3 251 Gat/Aat 0 -SEZ6 UCSF GRCh37 17 27286898 27286898 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 24 54 0 ENST00000317338.12:c.1589G>A p.Gly530Asp p.G530D ENST00000317338 530 gGc/gAc 0 -SF3B2 UCSF GRCh37 11 65824827 65824827 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 77 160 0 ENST00000322535.6:c.758C>T p.Pro253Leu p.P253L ENST00000322535 NM_006842.2 253 cCt/cTt 0 -SFSWAP UCSF GRCh37 12 132237854 132237854 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 50 89 0 ENST00000541286.1:c.1268C>T p.Pro423Leu p.P423L ENST00000541286 NM_001261411.1 423 cCc/cTc 0 -SFTPA1 UCSF GRCh37 10 81371624 81371624 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 85 173 0 ENST00000419470.2:c.88G>A p.Ala30Thr p.A30T ENST00000419470 30 Gcc/Acc 0 -SFTPA2 UCSF GRCh37 10 81319071 81319071 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 48 134 0 ENST00000372325.2:c.169C>T p.Pro57Ser p.P57S ENST00000372325 NM_001098668.2 57 Cca/Tca 0 -SGIP1 UCSF GRCh37 1 67195022 67195022 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0022 P18_Rec Untested WXS Illumina HiSeq 113 81 185 0 ENST00000371037.4:c.1818G>A p.Pro606= p.P606= ENST00000371037 NM_032291.2 606 ccG/ccA 0 -PRAG1 UCSF GRCh37 8 8185635 8185635 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 158 124 201 0 ENST00000520004.1:c.2657G>A p.Gly886Asp p.G886D ENST00000520004 886 gGc/gAc 0 -PRAG1 UCSF GRCh37 8 8185896 8185896 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 39 87 0 ENST00000520004.1:c.2396C>T p.Thr799Ile p.T799I ENST00000520004 799 aCt/aTt 0 -PRAG1 UCSF GRCh37 8 8176294 8176294 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 12 9 35 0 ENST00000520004.1:c.3591G>A p.Pro1197= p.P1197= ENST00000520004 1197 ccG/ccA 0 -SGMS1 UCSF GRCh37 10 52067029 52067029 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 48 94 0 ENST00000361781.2:c.1115G>A p.Arg372Lys p.R372K ENST00000361781 NM_147156.3 372 aGg/aAg 0 -SGPL1 UCSF GRCh37 10 72619236 72619236 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 44 107 0 ENST00000373202.3:c.595G>A p.Gly199Arg p.G199R ENST00000373202 NM_003901.3 199 Gga/Aga 0 -SGPP2 UCSF GRCh37 2 223423585 223423585 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 72 154 0 ENST00000321276.7:c.1168C>T p.Pro390Ser p.P390S ENST00000321276 NM_152386.2 390 Ccg/Tcg 0 -SH3BP4 UCSF GRCh37 2 235949844 235949844 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 102 61 153 0 ENST00000409212.1:c.431G>A p.Gly144Glu p.G144E ENST00000409212 144 gGa/gAa 0 -SH3BP4 UCSF GRCh37 2 235949878 235949878 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 66 165 0 ENST00000409212.1:c.465G>A p.Met155Ile p.M155I ENST00000409212 155 atG/atA 0 -SH3RF2 UCSF GRCh37 5 145442142 145442142 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 73 53 119 0 ENST00000511217.1:c.2068G>A p.Ala690Thr p.A690T ENST00000511217 690 Gcc/Acc 0 -SHANK1 UCSF GRCh37 19 51172385 51172385 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 6 8 16 0 ENST00000293441.1:c.2832C>T p.Arg944= p.R944= ENST00000293441 NM_016148.2 944 cgC/cgT 0 -SHANK2 UCSF GRCh37 11 70319358 70319358 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 48 126 0 ENST00000338508.4:c.5169G>A p.Leu1723= p.L1723= ENST00000338508 1723 ctG/ctA 0 -SHC1 UCSF GRCh37 1 154942558 154942558 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 61 133 0 ENST00000448116.2:c.445C>T p.Leu149= p.L149= ENST00000448116 NM_001130040.1 149 Ctg/Ttg 0 -SHC2 UCSF GRCh37 19 422180 422180 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 26 45 0 ENST00000264554.6:c.1586C>T p.Pro529Leu p.P529L ENST00000264554 NM_012435.2 529 cCc/cTc 0 -SHD UCSF GRCh37 19 4288240 4288240 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 63 25 97 0 ENST00000543264.2:c.717G>A p.Pro239= p.P239= ENST00000543264 NM_020209.3 239 ccG/ccA 0 -SHMT1 UCSF GRCh37 17 18250882 18250882 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 80 190 0 ENST00000316694.3:c.447G>A p.Leu149= p.L149= ENST00000316694 NM_004169.3 149 ctG/ctA 0 -SHROOM3 UCSF GRCh37 4 77700237 77700237 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 76 168 0 ENST00000296043.6:c.5898C>T p.Ala1966= p.A1966= ENST00000296043 NM_020859.3 1966 gcC/gcT 0 -SI UCSF GRCh37 3 164750338 164750338 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 68 180 0 ENST00000264382.3:c.2708C>T p.Ser903Phe p.S903F ENST00000264382 NM_001041.3 903 tCc/tTc 0 -SIGLEC1 UCSF GRCh37 20 3677521 3677521 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 39 22 50 0 ENST00000344754.4:c.2395C>T p.Pro799Ser p.P799S ENST00000344754 NM_023068.3 799 Cca/Tca 0 -SIK1 UCSF GRCh37 21 44839319 44839319 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 24 18 46 0 ENST00000270162.6:c.1159G>A p.Ala387Thr p.A387T ENST00000270162 NM_173354.3 387 Gcc/Acc 0 -SIK2 UCSF GRCh37 11 111591297 111591297 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 95 76 157 0 ENST00000304987.3:c.1591G>A p.Asp531Asn p.D531N ENST00000304987 NM_015191.1 531 Gac/Aac 0 -SIL1 UCSF GRCh37 5 138282962 138282962 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 41 23 79 0 ENST00000394817.2:c.1230C>T p.Asp410= p.D410= ENST00000394817 NM_022464.4 410 gaC/gaT 0 -SIN3A UCSF GRCh37 15 75715130 75715130 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 78 31 141 0 ENST00000394947.3:c.224G>A p.Gly75Glu p.G75E ENST00000394947 NM_001145358.1 75 gGg/gAg 0 -SIPA1L1 UCSF GRCh37 14 72196876 72196876 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 60 175 1 ENST00000555818.1:c.4782G>A p.Arg1594= p.R1594= ENST00000555818 NM_015556.1 1594 agG/agA 0 -SIPA1L3 UCSF GRCh37 19 38597280 38597280 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 58 116 0 ENST00000222345.6:c.2133G>A p.Gln711= p.Q711= ENST00000222345 NM_015073.1 711 caG/caA 0 -SKAP2 UCSF GRCh37 7 26778483 26778483 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 81 163 0 ENST00000345317.2:c.400G>A p.Gly134Arg p.G134R ENST00000345317 NM_003930.3 134 Gga/Aga 0 -SKI UCSF GRCh37 1 2235395 2235395 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 18 36 0 ENST00000378536.4:c.1328C>T p.Pro443Leu p.P443L ENST00000378536 NM_003036.3 443 cCc/cTc 0 -SKIC2 UCSF GRCh37 6 31936246 31936246 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 50 92 0 ENST00000375394.2:c.3000C>T p.Leu1000= p.L1000= ENST00000375394 NM_006929.4 1000 ctC/ctT 0 -SKIC2 UCSF GRCh37 6 31928217 31928217 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 173 135 282 0 ENST00000375394.2:c.363G>A p.Leu121= p.L121= ENST00000375394 NM_006929.4 121 ctG/ctA 0 -SKIV2L2 UCSF GRCh37 5 54640934 54640934 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 32 84 0 ENST00000230640.5:c.1018G>A p.Glu340Lys p.E340K ENST00000230640 NM_015360.4 340 Gaa/Aaa 0 -SLAMF1 UCSF GRCh37 1 160607134 160607134 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 88 193 0 ENST00000302035.6:c.262C>T p.Pro88Ser p.P88S ENST00000302035 NM_003037.2 88 Cct/Tct 0 -SLAMF6 UCSF GRCh37 1 160465922 160465922 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 99 178 0 ENST00000368057.3:c.311C>T p.Thr104Ile p.T104I ENST00000368057 104 aCa/aTa 0 -SLC12A3 UCSF GRCh37 16 56913080 56913080 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 44 10 54 1 ENST00000438926.2:c.1276A>G p.Asn426Asp p.N426D ENST00000438926 NM_001126108.1 426 Aac/Gac 0 -SLC14A2 UCSF GRCh37 18 43212405 43212405 + missense_variant Missense_Mutation SNP G G T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 89 212 0 ENST00000255226.6:c.612G>T p.Trp204Cys p.W204C ENST00000255226 NM_007163.3 204 tgG/tgT 0 -SLC15A1 UCSF GRCh37 13 99361913 99361913 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 62 61 146 0 ENST00000376503.5:c.980C>T p.Thr327Ile p.T327I ENST00000376503 NM_005073.3 327 aCc/aTc 0 -SLC15A2 UCSF GRCh37 3 121659250 121659250 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 52 113 0 ENST00000489711.1:c.1928C>T p.Ser643Phe p.S643F ENST00000489711 NM_021082.3 643 tCt/tTt 0 -SLC15A3 UCSF GRCh37 11 60706981 60706981 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 39 21 63 0 ENST00000227880.3:c.1406G>A p.Gly469Glu p.G469E ENST00000227880 NM_016582.2 469 gGg/gAg 0 -SLC16A1 UCSF GRCh37 1 113464699 113464699 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 73 149 0 ENST00000538576.1:c.274G>A p.Gly92Ser p.G92S ENST00000538576 NM_001166496.1 92 Ggt/Agt 0 -SLC17A3 UCSF GRCh37 6 25850111 25850111 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 92 201 0 ENST00000397060.4:c.1193C>T p.Ala398Val p.A398V ENST00000397060 NM_001098486.1 398 gCc/gTc 0 -SLC17A9 UCSF GRCh37 20 61588814 61588814 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 36 85 0 ENST00000370351.4:c.279C>T p.Ile93= p.I93= ENST00000370351 NM_022082.3 93 atC/atT 0 -SLC18A3 UCSF GRCh37 10 50819055 50819055 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 35 81 0 ENST00000374115.3:c.269C>T p.Ala90Val p.A90V ENST00000374115 NM_003055.2 90 gCc/gTc 0 -SLC19A3 UCSF GRCh37 2 228564098 228564098 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 140 120 262 0 ENST00000258403.3:c.333C>T p.Phe111= p.F111= ENST00000258403 NM_025243.3 111 ttC/ttT 0 -SLC1A7 UCSF GRCh37 1 53569205 53569205 + synonymous_variant Silent SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 14 6 24 0 ENST00000371494.4:c.510C>T p.Pro170= p.P170= ENST00000371494 NM_006671.4 170 ccC/ccT 0 -SLC1A7 UCSF GRCh37 1 53558287 53558287 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 43 92 0 ENST00000371494.4:c.970C>T p.Pro324Ser p.P324S ENST00000371494 NM_006671.4 324 Ccc/Tcc 0 -SLC22A23 UCSF GRCh37 6 3324091 3324091 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 32 18 58 0 ENST00000406686.3:c.1059C>T p.Phe353= p.F353= ENST00000406686 NM_015482.1 353 ttC/ttT 0 -SLC22A24 UCSF GRCh37 11 62910949 62910949 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 95 59 186 0 ENST00000417740.1:c.303G>A p.Leu101= p.L101= ENST00000417740 NM_001136506.2 101 ctG/ctA 0 -SLC22A9 UCSF GRCh37 11 63174117 63174117 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 78 120 0 ENST00000279178.3:c.1222G>A p.Ala408Thr p.A408T ENST00000279178 NM_080866.2 408 Gca/Aca 0 -SLC22A9 UCSF GRCh37 11 63176153 63176153 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 53 109 0 ENST00000279178.3:c.1403G>A p.Arg468Lys p.R468K ENST00000279178 NM_080866.2 468 aGa/aAa 0 -SLC22A9 UCSF GRCh37 11 63174096 63174096 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Rec Untested WXS Illumina HiSeq 104 89 141 0 ENST00000279178.3:c.1201C>G p.Leu401Val p.L401V ENST00000279178 NM_080866.2 401 Ctg/Gtg 0 -SLC23A2 UCSF GRCh37 20 4842731 4842731 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 50 104 0 ENST00000379333.1:c.1487G>A p.Gly496Glu p.G496E ENST00000379333 NM_203327.1 496 gGa/gAa 0 -SLC24A1 UCSF GRCh37 15 65917613 65917613 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 121 66 174 0 ENST00000261892.6:c.1195C>T p.Pro399Ser p.P399S ENST00000261892 NM_004727.2 399 Cca/Tca 0 -SLC24A1 UCSF GRCh37 15 65943185 65943185 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 79 201 0 ENST00000261892.6:c.2698G>A p.Asp900Asn p.D900N ENST00000261892 NM_004727.2 900 Gac/Aac 0 -SLC24A3 UCSF GRCh37 20 19261715 19261715 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 45 130 0 ENST00000328041.6:c.255G>A p.Lys85= p.K85= ENST00000328041 NM_020689.3 85 aaG/aaA 0 -SLC24A6 UCSF GRCh37 12 113744348 113744348 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 37 39 67 0 ENST00000552014.1:c.1444G>A p.Gly482Ser p.G482S ENST00000552014 482 Ggc/Agc 0 -SLC24A6 UCSF GRCh37 12 113753213 113753213 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 6 9 20 0 ENST00000552014.1:c.1062G>A p.Trp354Ter p.W354* ENST00000552014 354 tgG/tgA 0 -SLC25A13 UCSF GRCh37 7 95799390 95799390 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 142 113 237 0 ENST00000416240.2:c.1281C>T p.Val427= p.V427= ENST00000416240 NM_014251.2 427 gtC/gtT 0 -SLC25A32 UCSF GRCh37 8 104417054 104417054 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 39 98 0 ENST00000297578.4:c.341G>A p.Arg114Lys p.R114K ENST00000297578 NM_030780.4 114 aGa/aAa 0 -SLC26A2 UCSF GRCh37 5 149360728 149360728 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 174 152 280 0 ENST00000286298.4:c.1572G>A p.Leu524= p.L524= ENST00000286298 NM_000112.3 524 ctG/ctA 0 -SLC26A7 UCSF GRCh37 8 92307932 92307932 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 57 118 0 ENST00000309536.2:c.477+1G>A p.X159_splice ENST00000309536 NM_134266.1 0 -SLC27A4 UCSF GRCh37 9 131107677 131107677 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 45 31 58 0 ENST00000300456.4:c.405C>T p.Asn135= p.N135= ENST00000300456 NM_005094.3 135 aaC/aaT 0 -SLC29A1 UCSF GRCh37 6 44199835 44199835 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 51 92 0 ENST00000393841.1:c.965G>A p.Ser322Asn p.S322N ENST00000393841 NM_001078177.1 322 aGc/aAc 0 -SLC2A1 UCSF GRCh37 1 43395384 43395384 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 76 161 0 ENST00000426263.3:c.747G>A p.Arg249= p.R249= ENST00000426263 NM_006516.2 249 cgG/cgA 0 -SLC35A5 UCSF GRCh37 3 112299912 112299912 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 117 75 193 0 ENST00000492406.1:c.948G>A p.Gln316= p.Q316= ENST00000492406 NM_017945.3 316 caG/caA 0 -SLC35B2 UCSF GRCh37 6 44223172 44223172 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 92 161 0 ENST00000393812.3:c.570C>T p.Ser190= p.S190= ENST00000393812 NM_178148.2 190 agC/agT 0 -SLC35C2 UCSF GRCh37 20 44979157 44979157 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 63 45 106 0 ENST00000372227.1:c.974G>A p.Gly325Asp p.G325D ENST00000372227 NM_001281460.1 325 gGt/gAt 0 -SLC35D2 UCSF GRCh37 9 99106194 99106194 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 155 126 318 0 ENST00000253270.7:c.676C>T p.Leu226= p.L226= ENST00000253270 NM_007001.2 226 Ctg/Ttg 0 -SLC36A3 UCSF GRCh37 5 150663711 150663711 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 152 101 237 0 ENST00000377713.3:c.991G>A p.Gly331Arg p.G331R ENST00000377713 NM_001145017.1 331 Ggg/Agg 0 -SLC38A1 UCSF GRCh37 12 46582843 46582843 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 17 95 204 0 ENST00000398637.5:c.1374C>T p.Phe458= p.F458= ENST00000398637 NM_030674.3 458 ttC/ttT 0 -SLC38A7 UCSF GRCh37 16 58701337 58701337 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 61 103 0 ENST00000570101.1:c.1341C>T p.Ile447= p.I447= ENST00000570101 447 atC/atT 0 -SLC39A1 UCSF GRCh37 1 153932594 153932594 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 64 125 0 ENST00000368623.3:c.955C>T p.Leu319= p.L319= ENST00000368623 319 Ctg/Ttg 0 -SLC39A13 UCSF GRCh37 11 47436366 47436366 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 40 138 0 ENST00000362021.4:c.825C>T p.Asp275= p.D275= ENST00000362021 NM_001128225.2 275 gaC/gaT 0 -SLC39A4 UCSF GRCh37 8 145641309 145641309 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 4 19 0 ENST00000301305.3:c.359C>T p.Ala120Val p.A120V ENST00000301305 NM_130849.3 120 gCc/gTc 0 -SLC41A2 UCSF GRCh37 12 105239662 105239662 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 66 131 0 ENST00000258538.3:c.1346C>T p.Pro449Leu p.P449L ENST00000258538 NM_032148.3 449 cCc/cTc 0 -SLC44A2 UCSF GRCh37 19 10748407 10748407 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 99 76 200 0 ENST00000335757.5:c.1679G>A p.Arg560Lys p.R560K ENST00000335757 560 aGg/aAg 0 -SLC44A4 UCSF GRCh37 6 31831431 31831431 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 32 23 42 0 ENST00000229729.6:c.2106C>T p.Pro702= p.P702= ENST00000229729 NM_025257.2 702 ccC/ccT 0 -SLC4A4 UCSF GRCh37 4 72429552 72429552 + intron_variant Intron SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 151 110 223 0 ENST00000425175.1:c.3100-3169C>T *1034* ENST00000425175 NM_001134742.1 0 -SLC4A4 UCSF GRCh37 4 72432773 72432773 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 49 138 0 ENST00000425175.1:c.3152C>T p.Pro1051Leu p.P1051L ENST00000425175 NM_001134742.1 1051 cCt/cTt 0 -SLC5A10 UCSF GRCh37 17 18922759 18922759 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 16 48 0 ENST00000395647.2:c.1313G>A p.Gly438Asp p.G438D ENST00000395647 NM_152351.4 438 gGc/gAc 0 -SLC5A3 UCSF GRCh37 21 35469301 35469301 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 155 99 238 0 ENST00000381151.3:c.1804G>A p.Asp602Asn p.D602N ENST00000381151 602 Gat/Aat 0 -SLC5A5 UCSF GRCh37 19 17986914 17986914 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 40 79 0 ENST00000222248.3:c.697G>A p.Asp233Asn p.D233N ENST00000222248 NM_000453.2 233 Gac/Aac 0 -SLC5A8 UCSF GRCh37 12 101603315 101603315 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 32 27 48 0 ENST00000536262.2:c.312C>T p.Leu104= p.L104= ENST00000536262 NM_145913.3 104 ctC/ctT 0 -SLC6A18 UCSF GRCh37 5 1243822 1243822 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 41 76 0 ENST00000324642.3:c.1284C>T p.Pro428= p.P428= ENST00000324642 NM_182632.2 428 ccC/ccT 0 -SLC6A3 UCSF GRCh37 5 1422087 1422087 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 62 125 0 ENST00000270349.9:c.696C>T p.Asp232= p.D232= ENST00000270349 NM_001044.4 232 gaC/gaT 0 -SLC6A5 UCSF GRCh37 11 20628611 20628611 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 36 86 0 ENST00000525748.1:c.738C>T p.Phe246= p.F246= ENST00000525748 NM_004211.3 246 ttC/ttT 0 -SLC9A10 UCSF GRCh37 3 111993771 111993771 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 158 109 209 0 ENST00000305815.5:c.586C>T p.Leu196= p.L196= ENST00000305815 NM_183061.1 196 Cta/Tta 0 -SLC9A3 UCSF GRCh37 5 483527 483527 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 3 23 0 ENST00000264938.3:c.1003G>A p.Val335Met p.V335M ENST00000264938 NM_004174.2 335 Gtg/Atg 0 -SLC9A5 UCSF GRCh37 16 67300129 67300129 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 51 39 80 0 ENST00000299798.11:c.2218+1G>A p.X740_splice ENST00000299798 NM_004594.2 0 -SLFN5 UCSF GRCh37 17 33591579 33591579 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 87 211 0 ENST00000299977.4:c.1516G>A p.Val506Ile p.V506I ENST00000299977 NM_144975.3 506 Gtt/Att 0 -SLIT1 UCSF GRCh37 10 98945240 98945240 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 8 31 0 ENST00000266058.4:c.192G>A p.Glu64= p.E64= ENST00000266058 NM_003061.2 64 gaG/gaA 0 -SLITRK5 UCSF GRCh37 13 88328840 88328840 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 45 120 0 ENST00000325089.6:c.1197G>A p.Glu399= p.E399= ENST00000325089 NM_015567.1 399 gaG/gaA 0 -SLX4 UCSF GRCh37 16 3647861 3647861 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 146 76 132 0 ENST00000294008.3:c.1303G>A p.Gly435Ser p.G435S ENST00000294008 NM_032444.2 435 Ggt/Agt 0 -SMAP2 UCSF GRCh37 1 40882730 40882730 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 44 41 59 0 ENST00000372718.3:c.1126G>A p.Val376Ile p.V376I ENST00000372718 NM_022733.2 376 Gtc/Atc 0 -SMARCA4 UCSF GRCh37 19 11144114 11144114 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 99 70 162 0 ENST00000344626.4:c.3695G>A p.Gly1232Asp p.G1232D ENST00000344626 NM_003072.3 1232 gGc/gAc 0 -SMARCA4 UCSF GRCh37 19 11145748 11145748 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 17 30 0 ENST00000344626.4:c.4110C>T p.Gly1370= p.G1370= ENST00000344626 NM_003072.3 1370 ggC/ggT 0 -SMARCAD1 UCSF GRCh37 4 95173835 95173835 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 33 23 62 0 ENST00000359052.4:c.958C>T p.Pro320Ser p.P320S ENST00000359052 NM_001128430.1 320 Cct/Tct 0 -SMARCB1 UCSF GRCh37 22 24145540 24145540 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 21 67 190 0 ENST00000263121.7:c.559G>A p.Val187Ile p.V187I ENST00000263121 NM_003073.3 187 Gtc/Atc 0 -SMC4 UCSF GRCh37 3 160130152 160130152 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 100 86 161 0 ENST00000357388.3:c.891C>T p.Ala297= p.A297= ENST00000357388 NM_001002800.1 297 gcC/gcT 0 -SMG1 UCSF GRCh37 16 18896968 18896968 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 360 147 308 0 ENST00000446231.2:c.843G>A p.Gln281= p.Q281= ENST00000446231 281 caG/caA 0 -SMG6 UCSF GRCh37 17 2203390 2203390 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 91 200 0 ENST00000263073.6:c.657G>A p.Arg219= p.R219= ENST00000263073 NM_017575.4 219 agG/agA 0 -SMG9 UCSF GRCh37 19 44251867 44251867 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 8 17 0 ENST00000270066.6:c.408G>A p.Glu136= p.E136= ENST00000270066 NM_019108.2 136 gaG/gaA 0 -SMYD2 UCSF GRCh37 1 214504359 214504359 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 80 215 0 ENST00000366957.5:c.883G>A p.Val295Ile p.V295I ENST00000366957 NM_020197.2 295 Gtc/Atc 0 -SNAP25 UCSF GRCh37 20 10279964 10279964 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 96 235 0 ENST00000254976.2:c.456G>A p.Gln152= p.Q152= ENST00000254976 NM_130811.2 152 caG/caA 0 -SNAPC4 UCSF GRCh37 9 139279233 139279233 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 56 184 0 ENST00000298532.2:c.1359G>A p.Lys453= p.K453= ENST00000298532 NM_003086.2 453 aaG/aaA 0 -SNCAIP UCSF GRCh37 5 121787009 121787009 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 79 169 0 ENST00000261368.8:c.2467G>A p.Val823Met p.V823M ENST00000261368 NM_005460.2 823 Gtg/Atg 0 -SNCAIP UCSF GRCh37 5 121758579 121758579 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 62 143 0 ENST00000261368.8:c.147G>A p.Trp49Ter p.W49* ENST00000261368 NM_005460.2 49 tgG/tgA 0 -SMT-ND1 UCSF GRCh37 7 127343361 127343361 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 60 116 0 ENST00000354725.3:c.824G>A p.Gly275Asp p.G275D ENST00000354725 NM_014390.2 275 gGt/gAt 0 -SNRNP25 UCSF GRCh37 16 105853 105853 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 28 63 0 ENST00000383018.3:c.237G>A p.Glu79= p.E79= ENST00000383018 NM_024571.3 79 gaG/gaA 0 -SNRPA1 UCSF GRCh37 15 101826467 101826467 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 59 154 0 ENST00000254193.6:c.491G>A p.Gly164Asp p.G164D ENST00000254193 NM_003090.2 164 gGc/gAc 0 -SNRPB UCSF GRCh37 20 2448337 2448337 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 71 169 0 ENST00000438552.2:c.71G>A p.Gly24Asp p.G24D ENST00000438552 NM_198216.1 24 gGc/gAc 0 -SNTG1 UCSF GRCh37 8 51415431 51415431 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 61 108 0 ENST00000522124.1:c.457G>A p.Asp153Asn p.D153N ENST00000522124 NM_018967.2 153 Gat/Aat 0 -SNW1 UCSF GRCh37 14 78198932 78198932 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 67 172 0 ENST00000261531.7:c.787C>T p.Pro263Ser p.P263S ENST00000261531 NM_012245.2 263 Cca/Tca 0 -SNX24 UCSF GRCh37 5 122281781 122281781 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 67 48 90 0 ENST00000261369.4:c.176C>T p.Pro59Leu p.P59L ENST00000261369 NM_014035.2 59 cCt/cTt 0 -SNX27 UCSF GRCh37 1 151638437 151638437 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 116 58 159 0 ENST00000368843.3:c.935G>A p.Ser312Asn p.S312N ENST00000368843 NM_030918.5 312 aGt/aAt 0 -SNX33 UCSF GRCh37 15 75949512 75949512 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 110 77 156 0 ENST00000308527.5:c.1681G>A p.Gly561Ser p.G561S ENST00000308527 NM_153271.1 561 Ggc/Agc 0 -SOCS6 UCSF GRCh37 18 67992170 67992170 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 88 207 0 ENST00000397942.3:c.266G>A p.Gly89Asp p.G89D ENST00000397942 NM_004232.3 89 gGc/gAc 0 -SON UCSF GRCh37 21 34945614 34945614 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 69 161 0 ENST00000356577.4:c.6886G>A p.Asp2296Asn p.D2296N ENST00000356577 NM_138927.2 2296 Gat/Aat 0 -SORCS1 UCSF GRCh37 10 108357112 108357112 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 41 83 0 ENST00000344440.6:c.3262G>A p.Ala1088Thr p.A1088T ENST00000344440 NM_001206571.1 1088 Gcg/Acg 0 -SORCS3 UCSF GRCh37 10 106802835 106802835 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 90 207 0 ENST00000369701.3:c.977G>A p.Gly326Glu p.G326E ENST00000369701 NM_014978.1 326 gGa/gAa 0 -SOX2 UCSF GRCh37 3 181430304 181430304 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 72 44 87 0 ENST00000325404.1:c.156C>T p.Ser52= p.S52= ENST00000325404 NM_003106.3 52 tcC/tcT 0 -SOX8 UCSF GRCh37 16 1035317 1035317 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 10 21 0 ENST00000293894.3:c.1272C>T p.Ala424= p.A424= ENST00000293894 NM_014587.3 424 gcC/gcT 0 -SPAG5 UCSF GRCh37 17 26905492 26905492 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 64 146 0 ENST00000321765.5:c.3253G>A p.Glu1085Lys p.E1085K ENST00000321765 NM_006461.3 1085 Gag/Aag 0 -SPATA19 UCSF GRCh37 11 133711925 133711925 + splice_region_variant,3_prime_UTR_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 64 122 0 ENST00000299140.3:c.*9G>A p.X3_splice ENST00000299140 NM_174927.1 0 -SPATA4 UCSF GRCh37 4 177113852 177113852 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 59 149 0 ENST00000280191.2:c.614C>T p.Thr205Ile p.T205I ENST00000280191 NM_144644.2 205 aCc/aTc 0 -SPATA4 UCSF GRCh37 4 177113937 177113937 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 43 101 0 ENST00000280191.2:c.529C>T p.Pro177Ser p.P177S ENST00000280191 NM_144644.2 177 Ccc/Tcc 0 -SPDYE1 UCSF GRCh37 7 44047166 44047166 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 153 84 326 0 ENST00000258704.3:c.932C>T p.Ser311Phe p.S311F ENST00000258704 NM_175064.2 311 tCc/tTc 0 -SPEN UCSF GRCh37 1 16255398 16255398 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 220 163 308 0 ENST00000375759.3:c.2663G>A p.Gly888Glu p.G888E ENST00000375759 NM_015001.2 888 gGa/gAa 0 -SPEN UCSF GRCh37 1 16264397 16264397 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 104 78 160 0 ENST00000375759.3:c.10600G>A p.Ala3534Thr p.A3534T ENST00000375759 NM_015001.2 3534 Gcc/Acc 0 -SPEN UCSF GRCh37 1 16264466 16264466 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 88 70 103 0 ENST00000375759.3:c.10669G>A p.Ala3557Thr p.A3557T ENST00000375759 NM_015001.2 3557 Gca/Aca 0 -SPG11 UCSF GRCh37 15 44887641 44887641 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 49 116 0 ENST00000261866.7:c.4451C>T p.Ser1484Phe p.S1484F ENST00000261866 NM_025137.3 1484 tCt/tTt 0 -SPG20 UCSF GRCh37 13 36886372 36886372 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 124 111 208 0 ENST00000451493.1:c.1643G>A p.Gly548Glu p.G548E ENST00000451493 NM_001142295.1 548 gGa/gAa 0 -SPHK1 UCSF GRCh37 17 74382100 74382100 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 9 35 0 ENST00000323374.4:c.303C>T p.Cys101= p.C101= ENST00000323374 NM_182965.2 101 tgC/tgT 0 -SPHKAP UCSF GRCh37 2 228883796 228883796 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 82 55 133 0 ENST00000392056.3:c.1774G>A p.Ala592Thr p.A592T ENST00000392056 NM_001142644.1 592 Gca/Aca 0 -SPINK5 UCSF GRCh37 5 147478850 147478850 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 57 51 111 0 ENST00000359874.3:c.1064G>A p.Arg355Lys p.R355K ENST00000359874 NM_001127698.1 355 aGa/aAa 0 -SPINK7 UCSF GRCh37 5 147692956 147692956 + synonymous_variant Silent SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 133 87 197 0 ENST00000274565.4:c.81A>G p.Pro27= p.P27= ENST00000274565 NM_032566.2 27 ccA/ccG 0 -SPINK8 UCSF GRCh37 3 48351427 48351427 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 63 33 78 0 ENST00000434006.1:c.249G>A p.Gly83= p.G83= ENST00000434006 NM_001080525.1 83 ggG/ggA 0 -SPIRE1 UCSF GRCh37 18 12546786 12546786 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 158 126 260 0 ENST00000409402.4:c.490G>A p.Val164Met p.V164M ENST00000409402 NM_001128626.1 164 Gtg/Atg 0 -SPIRE1 UCSF GRCh37 18 12464913 12464913 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 37 71 0 ENST00000409402.4:c.1449C>T p.Pro483= p.P483= ENST00000409402 NM_001128626.1 483 ccC/ccT 0 -SPNS1 UCSF GRCh37 16 28993726 28993726 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 44 134 0 ENST00000311008.11:c.1015C>T p.Leu339= p.L339= ENST00000311008 NM_032038.2 339 Ctg/Ttg 0 -SPRED1 UCSF GRCh37 15 38641642 38641642 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 83 125 0 ENST00000299084.4:c.602G>A p.Gly201Asp p.G201D ENST00000299084 NM_152594.2 201 gGc/gAc 0 -SPTAN1 UCSF GRCh37 9 131394412 131394412 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 22 52 0 ENST00000372739.3:c.6769C>T p.His2257Tyr p.H2257Y ENST00000372739 NM_001130438.2 2257 Cac/Tac 0 -SPTAN1 UCSF GRCh37 9 131349977 131349977 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 42 45 108 0 ENST00000372739.3:c.2871G>A p.Arg957= p.R957= ENST00000372739 NM_001130438.2 957 cgG/cgA 0 -SPTBN5 UCSF GRCh37 15 42179555 42179555 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 18 41 0 ENST00000320955.6:c.744G>A p.Glu248= p.E248= ENST00000320955 NM_016642.3 248 gaG/gaA 0 -SPZ1 UCSF GRCh37 5 79616573 79616573 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 138 97 251 0 ENST00000296739.4:c.539C>T p.Ala180Val p.A180V ENST00000296739 NM_032567.3 180 gCc/gTc 0 -SRCAP UCSF GRCh37 16 30722945 30722945 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 85 150 0 ENST00000262518.4:c.1372G>A p.Gly458Ser p.G458S ENST00000262518 NM_006662.2 458 Ggc/Agc 0 -SRCAP UCSF GRCh37 16 30724618 30724618 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 109 212 0 ENST00000262518.4:c.2220G>A p.Trp740Ter p.W740* ENST00000262518 NM_006662.2 740 tgG/tgA 0 -SRCIN1 UCSF GRCh37 17 36714548 36714548 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 36 79 0 ENST00000264659.7:c.2116G>A p.Asp706Asn p.D706N ENST00000264659 NM_025248.2 706 Gac/Aac 0 -SRCRB4D UCSF GRCh37 7 76027005 76027005 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 25 46 0 ENST00000275560.3:c.698G>A p.Gly233Glu p.G233E ENST00000275560 NM_080744.1 233 gGg/gAg 0 -SREBF1 UCSF GRCh37 17 17723659 17723659 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 31 82 0 ENST00000355815.4:c.358C>T p.Pro120Ser p.P120S ENST00000355815 NM_001005291.2 120 Ccg/Tcg 0 -SREBF1 UCSF GRCh37 17 17723768 17723768 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 43 32 81 0 ENST00000355815.4:c.249G>A p.Gly83= p.G83= ENST00000355815 NM_001005291.2 83 ggG/ggA 0 -SRGAP1 UCSF GRCh37 12 64536263 64536263 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 23 97 187 0 ENST00000355086.3:c.3069G>A p.Gln1023= p.Q1023= ENST00000355086 NM_020762.2 1023 caG/caA 0 -SRGAP3 UCSF GRCh37 3 9097938 9097938 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 234 62 161 0 ENST00000383836.3:c.1104C>T p.Thr368= p.T368= ENST00000383836 NM_014850.3 368 acC/acT 0 -SRGAP3 UCSF GRCh37 3 9099983 9099983 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 294 79 179 0 ENST00000383836.3:c.975C>T p.Val325= p.V325= ENST00000383836 NM_014850.3 325 gtC/gtT 0 -SRL UCSF GRCh37 16 4247852 4247852 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 128 57 144 0 ENST00000399609.3:c.324C>T p.Thr108= p.T108= ENST00000399609 NM_001098814.1 108 acC/acT 0 -SRRM2 UCSF GRCh37 16 2813421 2813421 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 347 120 279 0 ENST00000301740.8:c.2892G>A p.Leu964= p.L964= ENST00000301740 NM_016333.3 964 ttG/ttA 0 -SRRM3 UCSF GRCh37 7 75914999 75914999 + 3_prime_UTR_variant 3'UTR SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 13 29 0 ENST00000326382.8:c.*6G>A *2* ENST00000326382 NM_001110199.1 0 -SSBP4 UCSF GRCh37 19 18542824 18542824 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 7 42 0 ENST00000270061.7:c.580G>A p.Gly194Ser p.G194S ENST00000270061 NM_032627.4 194 Ggc/Agc 0 -SSH3 UCSF GRCh37 11 67074528 67074528 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 46 74 0 ENST00000308127.4:c.480C>T p.Thr160= p.T160= ENST00000308127 NM_017857.3 160 acC/acT 0 -SSPO UCSF GRCh37 7 149504001 149504001 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 9 27 0 ENST00000378016.2:n.8825G>A *2942* ENST00000378016 0 -SSTR4 UCSF GRCh37 20 23017130 23017130 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 51 104 0 ENST00000255008.3:c.1010G>A p.Gly337Glu p.G337E ENST00000255008 NM_001052.2 337 gGa/gAa 0 -SSX1 UCSF GRCh37 X 48125757 48125757 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 178 195 0 ENST00000376919.3:c.502C>T p.Leu168= p.L168= ENST00000376919 NM_005635.3 168 Ctg/Ttg 0 -ST3GAL4 UCSF GRCh37 11 126277205 126277205 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 137 106 235 0 ENST00000526727.1:c.241C>T p.Pro81Ser p.P81S ENST00000526727 81 Cca/Tca 0 -STAB1 UCSF GRCh37 3 52540864 52540864 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 31 27 38 0 ENST00000321725.6:c.1987G>A p.Ala663Thr p.A663T ENST00000321725 NM_015136.2 663 Gcg/Acg 0 -STAB1 UCSF GRCh37 3 52536691 52536691 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 39 73 0 ENST00000321725.6:c.531G>A p.Gly177= p.G177= ENST00000321725 NM_015136.2 177 ggG/ggA 0 -STAG3 UCSF GRCh37 7 99778250 99778250 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 198 127 286 0 ENST00000426455.1:c.71C>T p.Ala24Val p.A24V ENST00000426455 NM_001282716.1 24 gCc/gTc 0 -STARD10 UCSF GRCh37 11 72470348 72470348 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 89 61 149 0 ENST00000334805.6:c.286G>A p.Asp96Asn p.D96N ENST00000334805 NM_006645.2 96 Gac/Aac 0 -STARD9 UCSF GRCh37 15 42930238 42930238 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 81 184 0 ENST00000290607.7:c.399G>A p.Arg133= p.R133= ENST00000290607 NM_020759.2 133 agG/agA 0 -STAT3 UCSF GRCh37 17 40475363 40475363 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 83 180 0 ENST00000264657.5:c.1663G>A p.Ala555Thr p.A555T ENST00000264657 NM_139276.2 555 Gct/Act 0 -STAT5B UCSF GRCh37 17 40354446 40354446 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 25 62 0 ENST00000293328.3:c.2149G>A p.Asp717Asn p.D717N ENST00000293328 NM_012448.3 717 Gat/Aat 0 -STIM1 UCSF GRCh37 11 4112853 4112853 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 21 62 158 0 ENST00000300737.4:c.1883C>T p.Ser628Phe p.S628F ENST00000300737 NM_003156.3 628 tCt/tTt 0 -STK11IP UCSF GRCh37 2 220471515 220471515 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 71 161 0 ENST00000295641.10:c.1102C>T p.Pro368Ser p.P368S ENST00000295641 NM_052902.2 368 Cct/Tct 0 -STK32A UCSF GRCh37 5 146763487 146763487 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 90 208 0 ENST00000397936.3:c.1132C>T p.Leu378= p.L378= ENST00000397936 NM_001112724.1 378 Cta/Tta 0 -STOML3 UCSF GRCh37 13 39541032 39541032 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 92 169 0 ENST00000379631.4:c.806C>T p.Pro269Leu p.P269L ENST00000379631 NM_145286.2 269 cCc/cTc 0 -STON1 UCSF GRCh37 2 48809625 48809625 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 76 180 0 ENST00000309835.3:c.1853C>T p.Thr618Ile p.T618I ENST00000309835 618 aCt/aTt 0 -STXBP5 UCSF GRCh37 6 147646219 147646219 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 45 128 0 ENST00000321680.6:c.1927C>T p.Leu643= p.L643= ENST00000321680 NM_001127715.2 643 Ctg/Ttg 0 -SULT2A1 UCSF GRCh37 19 48387013 48387013 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 53 102 0 ENST00000222002.3:c.166C>T p.Leu56= p.L56= ENST00000222002 NM_003167.3 56 Ctg/Ttg 0 -SULT2B1 UCSF GRCh37 19 49100093 49100093 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 16 42 0 ENST00000201586.2:c.743C>T p.Ala248Val p.A248V ENST00000201586 NM_177973.1 248 gCc/gTc 0 -SVIL UCSF GRCh37 10 29756720 29756720 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 167 65 130 0 ENST00000375398.2:c.5928G>A p.Trp1976Ter p.W1976* ENST00000375398 1976 tgG/tgA 0 -SYCE1 UCSF GRCh37 10 135369349 135369349 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 50 110 0 ENST00000343131.5:c.654G>A p.Gly218= p.G218= ENST00000343131 NM_001143764.1 218 ggG/ggA 0 -SYCE2 UCSF GRCh37 19 13011406 13011406 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 126 89 193 0 ENST00000293695.7:c.363C>T p.His121= p.H121= ENST00000293695 NM_001105578.1 121 caC/caT 0 -SYNE1 UCSF GRCh37 6 152603061 152603061 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 60 47 116 0 ENST00000367255.5:c.18262T>C p.Tyr6088His p.Y6088H ENST00000367255 NM_182961.3 6088 Tat/Cat 0 -SYNE1 UCSF GRCh37 6 152545661 152545661 + stop_gained Nonsense_Mutation SNP C C A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 71 205 0 ENST00000367255.5:c.21490G>T p.Glu7164Ter p.E7164* ENST00000367255 NM_182961.3 7164 Gaa/Taa 0 -SYNE2 UCSF GRCh37 14 64469624 64469624 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 86 186 0 ENST00000358025.3:c.3973C>T p.Leu1325= p.L1325= ENST00000358025 NM_182914.2 1325 Ctg/Ttg 0 -SYNGAP1 UCSF GRCh37 6 33412273 33412273 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 52 137 0 ENST00000418600.2:c.3461C>T p.Thr1154Ile p.T1154I ENST00000418600 NM_006772.2 1154 aCa/aTa 0 -SYNGR3 UCSF GRCh37 16 2042036 2042036 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 3 13 0 ENST00000248121.2:c.161G>A p.Gly54Asp p.G54D ENST00000248121 NM_004209.5 54 gGc/gAc 0 -SYNJ1 UCSF GRCh37 21 34038826 34038826 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 182 102 243 0 ENST00000433931.2:c.1986C>T p.Asn662= p.N662= ENST00000433931 NM_003895.3 662 aaC/aaT 0 -SYNJ2 UCSF GRCh37 6 158449942 158449942 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 80 50 160 0 ENST00000355585.4:c.369C>T p.Ile123= p.I123= ENST00000355585 NM_001178088.1 123 atC/atT 0 -SYT11 UCSF GRCh37 1 155838193 155838193 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 107 215 0 ENST00000368324.4:c.472C>T p.Leu158= p.L158= ENST00000368324 NM_152280.4 158 Cta/Tta 0 -SYT12 UCSF GRCh37 11 66816106 66816106 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 42 66 0 ENST00000393946.2:c.1144G>A p.Asp382Asn p.D382N ENST00000393946 382 Gac/Aac 0 -SYT3 UCSF GRCh37 19 51132555 51132555 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 16 32 0 ENST00000338916.4:c.1277G>A p.Gly426Asp p.G426D ENST00000338916 NM_032298.2 426 gGc/gAc 0 -SZT2 UCSF GRCh37 1 43907023 43907023 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 85 196 0 ENST00000562955.1:c.7312G>A p.Gly2438Ser p.G2438S ENST00000562955 NM_015284.3 2438 Ggc/Agc 0 -T UCSF GRCh37 6 166580152 166580152 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 59 150 0 ENST00000296946.2:c.399G>A p.Gly133= p.G133= ENST00000296946 NM_003181.3 133 ggG/ggA 0 -TAB3 UCSF GRCh37 X 30873508 30873508 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 4 33 43 0 ENST00000378933.1:c.274C>T p.Leu92Phe p.L92F ENST00000378933 NM_152787.3 92 Ctt/Ttt 0 -TACC2 UCSF GRCh37 10 123843783 123843783 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 47 120 0 ENST00000369005.1:c.1768G>A p.Asp590Asn p.D590N ENST00000369005 NM_206862.2 590 Gac/Aac 0 -TADA2A UCSF GRCh37 17 35802719 35802719 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 38 113 0 ENST00000394395.2:c.497C>T p.Ala166Val p.A166V ENST00000394395 NM_001166105.1 166 gCc/gTc 0 -TAF11 UCSF GRCh37 6 34846481 34846481 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 60 147 0 ENST00000361288.4:c.522G>A p.Glu174= p.E174= ENST00000361288 NM_005643.3 174 gaG/gaA 0 -TAF1L UCSF GRCh37 9 32635537 32635537 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 55 131 0 ENST00000242310.4:c.41C>T p.Thr14Ile p.T14I ENST00000242310 NM_153809.2 14 aCc/aTc 0 -TAF4B UCSF GRCh37 18 23866446 23866446 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 108 93 185 0 ENST00000269142.5:c.1573G>A p.Val525Ile p.V525I ENST00000269142 NM_005640.1 525 Gtt/Att 0 -TAGLN UCSF GRCh37 11 117074071 117074071 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 67 156 0 ENST00000532870.1:c.229G>A p.Val77Met p.V77M ENST00000532870 77 Gtg/Atg 0 -TANK UCSF GRCh37 2 162061305 162061305 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 50 137 0 ENST00000392749.2:c.327+1G>A p.X109_splice ENST00000392749 NM_001199135.1 0 -TAOK1 UCSF GRCh37 17 27857551 27857551 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 94 197 0 ENST00000261716.3:c.2275C>T p.Arg759Trp p.R759W ENST00000261716 NM_020791.2 759 Cgg/Tgg 0 -TAOK3 UCSF GRCh37 12 118639265 118639265 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 75 54 121 0 ENST00000392533.3:c.823G>A p.Asp275Asn p.D275N ENST00000392533 NM_016281.3 275 Gac/Aac 0 -TARDBP UCSF GRCh37 1 11082189 11082189 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 86 154 0 ENST00000240185.3:c.723G>A p.Gln241= p.Q241= ENST00000240185 NM_007375.3 241 caG/caA 0 -TAS2R20 UCSF GRCh37 12 11149806 11149806 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 185 155 326 0 ENST00000538986.1:c.669C>T p.Ile223= p.I223= ENST00000538986 NM_176889.2 223 atC/atT 0 -TASP1 UCSF GRCh37 20 13539702 13539702 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 85 180 0 ENST00000337743.4:c.628G>A p.Asp210Asn p.D210N ENST00000337743 NM_017714.2 210 Gac/Aac 0 -TBC1D10A UCSF GRCh37 22 30700641 30700641 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 18 33 96 0 ENST00000403477.3:c.210-1G>A p.X70_splice ENST00000403477 NM_001204240.1 0 -TBC1D14 UCSF GRCh37 4 6925299 6925299 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 59 144 0 ENST00000409757.4:c.183C>T p.Leu61= p.L61= ENST00000409757 NM_020773.2 61 ctC/ctT 0 -TBC1D16 UCSF GRCh37 17 77984396 77984396 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 5 21 0 ENST00000310924.2:c.342G>A p.Arg114= p.R114= ENST00000310924 NM_019020.3 114 cgG/cgA 0 -TBC1D19 UCSF GRCh37 4 26585897 26585897 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 13 32 0 ENST00000264866.4:c.82C>T p.Leu28= p.L28= ENST00000264866 NM_018317.2 28 Ctg/Ttg 0 -TBC1D30 UCSF GRCh37 12 65230282 65230282 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 41 114 0 ENST00000539867.1:c.607C>T p.Leu203Phe p.L203F ENST00000539867 NM_015279.1 203 Ctt/Ttt 0 -TBC1D4 UCSF GRCh37 13 75866342 75866342 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 71 131 0 ENST00000377636.3:c.3382G>A p.Glu1128Lys p.E1128K ENST00000377636 NM_014832.2 1128 Gag/Aag 0 -TBC1D4 UCSF GRCh37 13 75894149 75894149 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 92 30 94 0 ENST00000377636.3:c.2222+1G>A p.X741_splice ENST00000377636 NM_014832.2 0 -TBC1D8 UCSF GRCh37 2 101648800 101648800 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 104 91 140 0 ENST00000376840.4:c.1821G>A p.Glu607= p.E607= ENST00000376840 607 gaG/gaA 0 -TBCCD1 UCSF GRCh37 3 186272541 186272541 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 50 96 0 ENST00000424280.1:c.1047-1G>A p.X349_splice ENST00000424280 NM_001134415.1 0 -TBCD UCSF GRCh37 17 80739489 80739489 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 138 88 206 0 ENST00000355528.4:c.663G>A p.Lys221= p.K221= ENST00000355528 NM_005993.4 221 aaG/aaA 0 -TBX15 UCSF GRCh37 1 119474318 119474318 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 42 110 0 ENST00000207157.3:c.25G>A p.Val9Met p.V9M ENST00000207157 NM_152380.2 9 Gtg/Atg 0 -TBX5 UCSF GRCh37 12 114804055 114804055 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 98 83 142 0 ENST00000310346.4:c.897C>T p.Gly299= p.G299= ENST00000310346 NM_000192.3 299 ggC/ggT 0 -TBXAS1 UCSF GRCh37 7 139657524 139657524 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 68 141 0 ENST00000416849.2:c.921G>A p.Arg307= p.R307= ENST00000416849 NM_001166253.1 307 agG/agA 0 -TCEAL5 UCSF GRCh37 X 102529174 102529174 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 22 123 137 0 ENST00000372680.1:c.318C>T p.Arg106= p.R106= ENST00000372680 NM_001012979.2 106 cgC/cgT 0 -TCEB3B UCSF GRCh37 18 44561448 44561448 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 32 87 0 ENST00000332567.4:c.188G>A p.Gly63Asp p.G63D ENST00000332567 NM_016427.2 63 gGc/gAc 0 -TCERG1 UCSF GRCh37 5 145838501 145838501 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 141 96 205 0 ENST00000296702.5:c.493G>A p.Val165Ile p.V165I ENST00000296702 NM_006706.3 165 Gtt/Att 0 -TCF25 UCSF GRCh37 16 89958648 89958648 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 23 46 0 ENST00000263346.8:c.662C>T p.Thr221Ile p.T221I ENST00000263346 NM_014972.2 221 aCc/aTc 0 -TCHH UCSF GRCh37 1 152084192 152084192 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 118 27 164 0 ENST00000368804.1:c.1501G>A p.Glu501Lys p.E501K ENST00000368804 NM_007113.3 501 Gag/Aag 0 -TCHH UCSF GRCh37 1 152084210 152084210 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 124 16 163 0 ENST00000368804.1:c.1483G>A p.Glu495Lys p.E495K ENST00000368804 NM_007113.3 495 Gag/Aag 0 -TCHH UCSF GRCh37 1 152084193 152084194 + inframe_insertion In_Frame_Ins INS - - CTGCTGCTCGCGCCTCTT NOVEL P18_Rec Untested WXS Illumina HiSeq 10 0 ENST00000368804.1:c.1499_1500insAAGAGGCGCGAGCAGCAG p.Gln500_Glu501insArgGlyAlaSerSerArg p.Q500_E501insRGASSR ENST00000368804 NM_007113.3 500 cag/caAAGAGGCGCGAGCAGCAGg 0 -TCP10L2 UCSF GRCh37 6 167592009 167592009 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 350 75 415 0 ENST00000366832.2:c.636G>A p.Arg212= p.R212= ENST00000366832 NM_001145121.1 212 cgG/cgA 0 -TCTN1 UCSF GRCh37 12 111078207 111078207 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 65 105 0 ENST00000397659.4:c.863C>T p.Ser288Phe p.S288F ENST00000397659 NM_001173975.1 288 tCc/tTc 0 -TDRD1 UCSF GRCh37 10 115991270 115991270 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 41 100 0 ENST00000251864.2:c.3564C>T p.Pro1188= p.P1188= ENST00000251864 NM_198795.1 1188 ccC/ccT 0 -TDRD9 UCSF GRCh37 14 104472730 104472730 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 174 119 284 0 ENST00000409874.4:c.1718G>A p.Gly573Glu p.G573E ENST00000409874 NM_153046.2 573 gGa/gAa 0 -TDRD9 UCSF GRCh37 14 104482389 104482389 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 58 123 0 ENST00000409874.4:c.2295G>A p.Arg765= p.R765= ENST00000409874 NM_153046.2 765 agG/agA 0 -TEC 7006 UCSF GRCh37 4 48147290 48147290 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 112 67 145 0 ENST00000381501.3:c.1276G>A p.Val426Met p.V426M ENST00000381501 NM_003215.2 426 Gtg/Atg 0 -TECTA UCSF GRCh37 11 120989349 120989349 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 121 105 195 0 ENST00000392793.1:c.1125C>T p.Val375= p.V375= ENST00000392793 375 gtC/gtT 0 -TECTA UCSF GRCh37 11 120996226 120996226 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 136 109 214 0 ENST00000392793.1:c.1419C>T p.Leu473= p.L473= ENST00000392793 473 ctC/ctT 0 -TERF1 UCSF GRCh37 8 73958219 73958219 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 147 93 206 0 ENST00000276603.5:c.1167G>A p.Lys389= p.K389= ENST00000276603 NM_017489.2 389 aaG/aaA 0 -TEX11 UCSF GRCh37 X 70080787 70080787 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 49 55 0 ENST00000395889.2:c.290-1G>A p.X97_splice ENST00000395889 NM_001003811.1 0 -TEX19 UCSF GRCh37 17 80320513 80320513 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 68 53 126 0 ENST00000333437.4:c.487C>T p.Pro163Ser p.P163S ENST00000333437 NM_207459.3 163 Cct/Tct 0 -TFAM UCSF GRCh37 10 60146021 60146021 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 122 88 182 0 ENST00000487519.1:c.143G>A p.Ser48Asn p.S48N ENST00000487519 NM_003201.2 48 aGt/aAt 0 -TFF2 UCSF GRCh37 21 43771060 43771060 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.006,1000g2011may_all_0.0182,snp132_rs7277409 P18_Rec Untested WXS Illumina HiSeq 34 37 64 0 ENST00000291526.4:c.7C>T p.Arg3Trp p.R3W ENST00000291526 NM_005423.4 3 Cgg/Tgg 0 -TFR2 UCSF GRCh37 7 100229785 100229785 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 89 56 167 0 ENST00000462107.1:c.886C>T p.Leu296Phe p.L296F ENST00000462107 296 Ctc/Ttc 0 -TGFBR2 UCSF GRCh37 3 30713734 30713734 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 122 104 208 0 ENST00000359013.4:c.1134C>T p.Ser378= p.S378= ENST00000359013 NM_001024847.2 378 tcC/tcT 0 -TGM3 UCSF GRCh37 20 2293603 2293603 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 128 118 205 0 ENST00000381458.5:c.600C>T p.Arg200= p.R200= ENST00000381458 NM_003245.3 200 cgC/cgT 0 -TH1L UCSF GRCh37 20 57564990 57564990 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 55 49 90 0 ENST00000602795.1:c.789G>A p.Gly263= p.G263= ENST00000602795 NM_198976.2 263 ggG/ggA 0 -THBS3 UCSF GRCh37 1 155170289 155170289 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 142 116 224 0 ENST00000368378.3:c.1661A>G p.Asp554Gly p.D554G ENST00000368378 NM_007112.4 554 gAt/gGt 0 -THBS3 UCSF GRCh37 1 155171292 155171292 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 67 58 90 0 ENST00000368378.3:c.1245C>T p.Ala415= p.A415= ENST00000368378 NM_007112.4 415 gcC/gcT 0 -THOC5 UCSF GRCh37 22 29916062 29916062 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 13 38 98 0 ENST00000490103.1:c.1309C>T p.Leu437= p.L437= ENST00000490103 NM_003678.4 437 Cta/Tta 0 -THSD7B UCSF GRCh37 2 138030196 138030196 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 111 237 0 ENST00000272643.3:c.2360G>A p.Arg787Lys p.R787K ENST00000272643 787 aGa/aAa 0 -THUMPD3 UCSF GRCh37 3 9408637 9408637 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 299 63 170 0 ENST00000345094.3:c.298G>A p.Glu100Lys p.E100K ENST00000345094 NM_001114092.1 100 Gag/Aag 0 -TIE1 UCSF GRCh37 1 43772556 43772556 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 57 113 0 ENST00000372476.3:c.530G>A p.Arg177Gln p.R177Q ENST00000372476 NM_005424.4 177 cGg/cAg 0 -TIGIT UCSF GRCh37 3 114026946 114026946 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 168 105 271 0 ENST00000486257.1:c.703G>A p.Gly235Ser p.G235S ENST00000486257 235 Ggt/Agt 0 -TIMM50 UCSF GRCh37 19 39971203 39971203 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 61 134 0 ENST00000314349.4:c.19C>T p.Leu7= p.L7= ENST00000314349 NM_001001563.1 7 Ctg/Ttg 0 -TIMP1 UCSF GRCh37 X 47442895 47442895 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 11 70 68 0 ENST00000218388.4:c.81C>T p.Val27= p.V27= ENST00000218388 NM_003254.2 27 gtC/gtT 0 -TINAG UCSF GRCh37 6 54173386 54173386 + missense_variant Missense_Mutation SNP T T G NOVEL P18_Rec Untested WXS Illumina HiSeq 58 29 73 0 ENST00000259782.4:c.38T>G p.Leu13Arg p.L13R ENST00000259782 NM_014464.3 13 cTt/cGt 0 -TINAGL1 UCSF GRCh37 1 32050857 32050857 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 97 164 0 ENST00000271064.7:c.963C>T p.Arg321= p.R321= ENST00000271064 NM_022164.2 321 cgC/cgT 0 -TJP3 UCSF GRCh37 19 3738640 3738640 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Rec Untested WXS Illumina HiSeq 64 44 79 0 ENST00000589378.1:c.1399G>C p.Val467Leu p.V467L ENST00000589378 NM_001267561.1 467 Gtg/Ctg 0 -TKT UCSF GRCh37 3 53265544 53265544 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 43 107 0 ENST00000423516.1:c.795G>A p.Trp265Ter p.W265* ENST00000423516 NM_001258028.1 265 tgG/tgA 0 -TLE3 UCSF GRCh37 15 70347554 70347554 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 63 127 0 ENST00000558939.1:c.1421C>T p.Pro474Leu p.P474L ENST00000558939 NM_001282979.1 474 cCg/cTg 0 -TLE6 UCSF GRCh37 19 2989107 2989107 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 65 47 124 0 ENST00000246112.4:c.789C>T p.Ala263= p.A263= ENST00000246112 NM_001143986.1 263 gcC/gcT 0 -TLN2 UCSF GRCh37 15 63125806 63125806 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 23 70 178 0 ENST00000561311.1:c.7106G>A p.Arg2369Lys p.R2369K ENST00000561311 2369 aGg/aAg 0 -TM9SF4 UCSF GRCh37 20 30737484 30737484 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 53 50 63 0 ENST00000398022.2:c.1002C>T p.Val334= p.V334= ENST00000398022 NM_014742.3 334 gtC/gtT 0 -TMBIM4 UCSF GRCh37 12 66539731 66539731 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 55 135 0 ENST00000358230.3:c.354C>T p.Phe118= p.F118= ENST00000358230 NM_016056.2 118 ttC/ttT 0 -TMC8 UCSF GRCh37 17 76134223 76134223 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 50 105 0 ENST00000318430.5:c.1487C>T p.Pro496Leu p.P496L ENST00000318430 NM_152468.4 496 cCc/cTc 0 -TMEM109 UCSF GRCh37 11 60687263 60687263 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 136 112 202 0 ENST00000227525.3:c.98C>T p.Ala33Val p.A33V ENST00000227525 NM_024092.2 33 gCc/gTc 0 -TMEM115 UCSF GRCh37 3 50395655 50395655 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.00097 P18_Rec Untested WXS Illumina HiSeq 111 89 165 0 ENST00000266025.3:c.840C>T p.Ala280= p.A280= ENST00000266025 NM_007024.4 280 gcC/gcT 0 -TMEM131 UCSF GRCh37 2 98409175 98409175 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 68 158 0 ENST00000186436.5:c.3818G>A p.Gly1273Asp p.G1273D ENST00000186436 NM_015348.1 1273 gGt/gAt 0 -TMEM132A UCSF GRCh37 11 60694802 60694802 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 72 54 135 0 ENST00000005286.4:c.227C>T p.Ser76Phe p.S76F ENST00000005286 NM_178031.2 76 tCc/tTc 0 -TMEM132C UCSF GRCh37 12 129178440 129178440 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 68 159 0 ENST00000435159.2:c.1516G>A p.Val506Met p.V506M ENST00000435159 NM_001136103.2 506 Gtg/Atg 0 -TMEM143 UCSF GRCh37 19 48845943 48845943 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 41 37 76 0 ENST00000293261.3:c.819G>A p.Thr273= p.T273= ENST00000293261 NM_018273.2 273 acG/acA 0 -TMEM151B UCSF GRCh37 6 44243428 44243428 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 10 4 17 0 ENST00000451188.2:c.865G>A p.Asp289Asn p.D289N ENST00000451188 NM_001137560.1 289 Gac/Aac 0 -TMEM164 UCSF GRCh37 X 109247135 109247135 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 82 93 0 ENST00000372073.1:c.133G>A p.Val45Ile p.V45I ENST00000372073 45 Gtc/Atc 0 -TMEM165 UCSF GRCh37 4 56290810 56290810 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 53 40 97 0 ENST00000381334.5:c.898G>A p.Val300Met p.V300M ENST00000381334 NM_018475.4 300 Gtg/Atg 0 -TMEM173 UCSF GRCh37 5 138858022 138858022 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 111 111 246 0 ENST00000330794.4:c.592C>T p.Leu198= p.L198= ENST00000330794 NM_198282.2 198 Ctg/Ttg 0 -TMEM176A UCSF GRCh37 7 150501561 150501561 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 51 121 0 ENST00000484928.1:c.666+1G>A p.X222_splice ENST00000484928 0 -TMEM177 UCSF GRCh37 2 120439314 120439314 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 92 45 156 0 ENST00000424086.1:c.885G>A p.Arg295= p.R295= ENST00000424086 NM_001105198.1 295 cgG/cgA 0 -TMEM181 UCSF GRCh37 6 158957729 158957729 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 9 19 0 ENST00000367090.3:c.251G>A p.Gly84Asp p.G84D ENST00000367090 NM_020823.1 84 gGt/gAt 0 -TMEM207 UCSF GRCh37 3 190167548 190167548 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 66 139 0 ENST00000354905.2:c.51G>A p.Gly17= p.G17= ENST00000354905 NM_207316.1 17 ggG/ggA 0 -TMEM209 UCSF GRCh37 7 129841783 129841783 + synonymous_variant Silent SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 240 99 216 0 ENST00000397622.2:c.480T>C p.Thr160= p.T160= ENST00000397622 NM_032842.3 160 acT/acC 0 -TMEM214 UCSF GRCh37 2 27258058 27258058 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 51 99 0 ENST00000238788.9:c.407G>A p.Gly136Glu p.G136E ENST00000238788 NM_017727.4 136 gGa/gAa 0 -TMEM38A UCSF GRCh37 19 16791263 16791263 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 199 139 310 0 ENST00000187762.2:c.337C>T p.Pro113Ser p.P113S ENST00000187762 NM_024074.1 113 Cct/Tct 0 -TMEM39A UCSF GRCh37 3 119156784 119156784 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 85 59 141 0 ENST00000319172.5:c.742C>T p.Leu248= p.L248= ENST00000319172 NM_018266.2 248 Cta/Tta 0 -TMEM44 UCSF GRCh37 3 194343978 194343978 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 66 40 102 0 ENST00000392432.2:c.587C>T p.Ser196Phe p.S196F ENST00000392432 NM_001166305.1 196 tCt/tTt 0 -TMEM63B UCSF GRCh37 6 44117599 44117599 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 16 21 0 ENST00000259746.9:c.1417C>T p.Pro473Ser p.P473S ENST00000259746 473 Ccc/Tcc 0 -TMEM63C UCSF GRCh37 14 77705765 77705765 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 37 70 0 ENST00000298351.4:c.736C>T p.Pro246Ser p.P246S ENST00000298351 NM_020431.2 246 Cca/Tca 0 -TMEM85 UCSF GRCh37 15 34520724 34520724 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 213 152 310 0 ENST00000267750.4:c.450G>A p.Lys150= p.K150= ENST00000267750 NM_016454.2 150 aaG/aaA 0 -TMF1 UCSF GRCh37 3 69092917 69092917 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 70 135 0 ENST00000398559.2:c.1562G>A p.Arg521Lys p.R521K ENST00000398559 521 aGa/aAa 0 -TMPRSS11A UCSF GRCh37 4 68795751 68795751 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 113 77 189 0 ENST00000334830.7:c.337G>A p.Glu113Lys p.E113K ENST00000334830 113 Gaa/Aaa 0 -TMPRSS11D UCSF GRCh37 4 68688127 68688127 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 127 92 226 0 ENST00000283916.6:c.1185G>A p.Leu395= p.L395= ENST00000283916 NM_004262.2 395 ctG/ctA 0 -TMPRSS13 UCSF GRCh37 11 117784494 117784494 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 84 55 119 0 ENST00000524993.1:c.807G>A p.Glu269= p.E269= ENST00000524993 NM_001077263.2 269 gaG/gaA 0 -TMPRSS15 UCSF GRCh37 21 19732166 19732166 + missense_variant Missense_Mutation SNP A A T NOVEL P18_Rec Untested WXS Illumina HiSeq 125 85 154 0 ENST00000284885.3:c.788T>A p.Leu263His p.L263H ENST00000284885 NM_002772.2 263 cTt/cAt 0 -TMPRSS3 UCSF GRCh37 21 43796669 43796669 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 61 53 98 0 ENST00000291532.3:c.1175G>A p.Gly392Asp p.G392D ENST00000291532 NM_032404.2 392 gGt/gAt 0 -TNFAIP1 UCSF GRCh37 17 26669339 26669339 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 42 34 80 0 ENST00000226225.2:c.585C>T p.Gly195= p.G195= ENST00000226225 NM_021137.4 195 ggC/ggT 0 -TNFAIP8L3 UCSF GRCh37 15 51350625 51350625 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 33 80 0 ENST00000327536.5:c.332G>A p.Ser111Asn p.S111N ENST00000327536 NM_207381.2 111 aGt/aAt 0 -TNFRSF10B UCSF GRCh37 8 22926275 22926275 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 14 22 0 ENST00000276431.4:c.133G>A p.Val45Ile p.V45I ENST00000276431 NM_147187.2 45 Gtc/Atc 0 -TNFRSF13C UCSF GRCh37 22 42322114 42322114 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 13 30 0 ENST00000291232.3:c.358G>A p.Asp120Asn p.D120N ENST00000291232 NM_052945.3 120 Gac/Aac 0 -TNFRSF4 UCSF GRCh37 1 1147450 1147450 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 15 9 18 0 ENST00000379236.3:c.506G>A p.Arg169Lys p.R169K ENST00000379236 NM_003327.3 169 aGg/aAg 0 -TNK1 UCSF GRCh37 17 7290413 7290413 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 31 49 0 ENST00000576812.1:c.1352C>T p.Thr451Ile p.T451I ENST00000576812 NM_001251902.1 451 aCc/aTc 0 -TNK2 UCSF GRCh37 3 195608963 195608963 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 48 120 0 ENST00000381916.2:c.1035C>T p.Asp345= p.D345= ENST00000381916 NM_001010938.1 345 gaC/gaT 0 -TNNI1 UCSF GRCh37 1 201383683 201383683 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 16 33 0 ENST00000361379.4:c.152C>T p.Thr51Met p.T51M ENST00000361379 NM_003281.3 51 aCg/aTg 0 -TNNI3 UCSF GRCh37 19 55665468 55665468 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 85 69 129 0 ENST00000344887.5:c.479G>A p.Gly160Glu p.G160E ENST00000344887 NM_000363.4 160 gGg/gAg 0 -TNRC18 UCSF GRCh37 7 5353477 5353477 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 28 52 0 ENST00000430969.1:c.7045G>A p.Glu2349Lys p.E2349K ENST00000430969 NM_001080495.2 2349 Gag/Aag 0 -TNRC18 UCSF GRCh37 7 5410939 5410939 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 7 12 26 0 ENST00000430969.1:c.3286C>T p.Pro1096Ser p.P1096S ENST00000430969 NM_001080495.2 1096 Cct/Tct 0 -TNXB UCSF GRCh37 6 32065707 32065707 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 55 53 105 0 ENST00000375244.3:c.269G>A p.Gly90Asp p.G90D ENST00000375244 90 gGc/gAc 0 -TOB1 UCSF GRCh37 17 48941018 48941018 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 109 71 171 0 ENST00000499247.2:c.361G>A p.Gly121Arg p.G121R ENST00000499247 NM_005749.3 121 Gga/Aga 0 -TOM1 UCSF GRCh37 22 35713897 35713897 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 62 133 0 ENST00000411850.1:c.80G>A p.Ser27Asn p.S27N ENST00000411850 NM_001135732.1 27 aGc/aAc 0 -TONSL UCSF GRCh37 8 145659615 145659615 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 8 9 23 0 ENST00000409379.3:c.3133C>T p.Leu1045Phe p.L1045F ENST00000409379 NM_013432.4 1045 Ctc/Ttc 0 -TOP1 UCSF GRCh37 20 39741529 39741529 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 55 126 0 ENST00000361337.2:c.1416C>T p.Val472= p.V472= ENST00000361337 NM_003286.2 472 gtC/gtT 0 -TOP2A UCSF GRCh37 17 38563110 38563110 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 128 231 0 ENST00000423485.1:c.1711G>A p.Glu571Lys p.E571K ENST00000423485 NM_001067.3 571 Gag/Aag 0 -TOP2B UCSF GRCh37 3 25670612 25670612 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 179 115 250 0 ENST00000435706.2:c.1699G>A p.Gly567Ser p.G567S ENST00000435706 NM_001068.3 567 Ggc/Agc 0 -TOR1AIP2 UCSF GRCh37 1 179820072 179820072 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 79 200 0 ENST00000367612.3:c.461C>T p.Pro154Leu p.P154L ENST00000367612 NM_145034.4 154 cCt/cTt 0 -TOR1B UCSF GRCh37 9 132571237 132571237 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 62 67 161 0 ENST00000259339.2:c.695G>A p.Gly232Glu p.G232E ENST00000259339 NM_014506.1 232 gGa/gAa 0 -TOR2A UCSF GRCh37 9 130495599 130495599 + intron_variant Intron SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 57 133 0 ENST00000373284.5:c.593+65C>T *198* ENST00000373284 NM_001085347.2 0 -TP53 UCSF GRCh37 17 7578242 7578242 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 69 41 111 0 ENST00000269305.4:c.607G>A p.Val203Met p.V203M ENST00000269305 NM_001126112.2 203 Gtg/Atg 0 -TP53 UCSF GRCh37 17 7577572 7577572 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 18 61 78 0 ENST00000269305.4:c.709A>G p.Met237Val p.M237V ENST00000269305 NM_001126112.2 237 Atg/Gtg 0 -TPR UCSF GRCh37 1 186287932 186287932 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 74 190 0 ENST00000367478.4:c.6597C>T p.Phe2199= p.F2199= ENST00000367478 NM_003292.2 2199 ttC/ttT 0 -TRAF3IP1 UCSF GRCh37 2 239242654 239242654 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 31 69 0 ENST00000373327.4:c.1041G>A p.Arg347= p.R347= ENST00000373327 NM_015650.3 347 cgG/cgA 0 -TRAF3IP3 UCSF GRCh37 1 209936207 209936207 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 142 71 196 0 ENST00000367024.1:c.543G>A p.Gln181= p.Q181= ENST00000367024 181 caG/caA 0 -TRAFD1 UCSF GRCh37 12 112585941 112585941 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 60 112 0 ENST00000257604.5:c.991G>A p.Val331Met p.V331M ENST00000257604 NM_001143906.1 331 Gtg/Atg 0 -TRANK1 UCSF GRCh37 3 36896976 36896976 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 198 148 338 0 ENST00000429976.2:c.4105G>A p.Val1369Ile p.V1369I ENST00000429976 1369 Gtt/Att 0 -TRAPPC10 UCSF GRCh37 21 45506703 45506703 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 74 156 0 ENST00000291574.4:c.2401C>T p.Pro801Ser p.P801S ENST00000291574 NM_003274.4 801 Cct/Tct 0 -TREX1 UCSF GRCh37 3 48508814 48508814 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 79 81 157 0 ENST00000422277.2:c.925C>T p.Leu309= p.L309= ENST00000422277 NM_016381.4 309 Ctg/Ttg 0 -TRIM29 UCSF GRCh37 11 120008683 120008683 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 36 23 70 0 ENST00000341846.5:c.57C>T p.Ala19= p.A19= ENST00000341846 NM_012101.3 19 gcC/gcT 0 -TRIM33 UCSF GRCh37 1 114940462 114940462 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 167 135 246 0 ENST00000358465.2:c.3192G>A p.Gln1064= p.Q1064= ENST00000358465 NM_015906.3 1064 caG/caA 0 -TRIM43B UCSF GRCh37 2 96147415 96147415 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 51 162 0 ENST00000454263.2:n.565G>A *189* ENST00000454263 0 -TRIM45 UCSF GRCh37 1 117663495 117663495 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 66 112 0 ENST00000256649.4:c.329C>T p.Ala110Val p.A110V ENST00000256649 NM_025188.3 110 gCt/gTt 0 -TRIM47 UCSF GRCh37 17 73872525 73872525 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 22 15 40 0 ENST00000254816.2:c.820G>A p.Ala274Thr p.A274T ENST00000254816 NM_033452.2 274 Gct/Act 0 -TRIM50 UCSF GRCh37 7 72738554 72738554 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 61 58 123 0 ENST00000333149.2:c.232C>T p.Leu78= p.L78= ENST00000333149 NM_001281450.1 78 Ctg/Ttg 0 -TRIM52 UCSF GRCh37 5 180687399 180687399 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Rec Untested WXS Illumina HiSeq 159 107 224 0 ENST00000327767.4:c.416T>G p.Leu139Trp p.L139W ENST00000327767 NM_032765.2 139 tTg/tGg 0 -TRIM52 UCSF GRCh37 5 180687407 180687407 + synonymous_variant Silent SNP T T G NOVEL P18_Rec Untested WXS Illumina HiSeq 147 106 231 0 ENST00000327767.4:c.408A>C p.Leu136= p.L136= ENST00000327767 NM_032765.2 136 ctA/ctC 0 -TRIM55 UCSF GRCh37 8 67086798 67086798 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 179 112 235 0 ENST00000315962.4:c.1617C>T p.Ser539= p.S539= ENST00000315962 NM_184085.1 539 tcC/tcT 0 -TRIM71 UCSF GRCh37 3 32933098 32933098 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 81 145 0 ENST00000383763.5:c.2402C>T p.Ala801Val p.A801V ENST00000383763 NM_001039111.1 801 gCt/gTt 0 -TRIM71 UCSF GRCh37 3 32932469 32932469 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 45 95 0 ENST00000383763.5:c.1773C>T p.Leu591= p.L591= ENST00000383763 NM_001039111.1 591 ctC/ctT 0 -TRIM77P UCSF GRCh37 11 89443679 89443679 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 90 211 0 ENST00000398290.3:c.213G>A p.Glu71= p.E71= ENST00000398290 NM_001146162.1 71 gaG/gaA 0 -TRIM9 UCSF GRCh37 14 51446261 51446261 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 166 105 231 0 ENST00000298355.3:c.1914G>A p.Glu638= p.E638= ENST00000298355 NM_015163.5 638 gaG/gaA 0 -TRIM9 UCSF GRCh37 14 51448685 51448685 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 84 144 0 ENST00000298355.3:c.1740C>T p.Tyr580= p.Y580= ENST00000298355 NM_015163.5 580 taC/taT 0 -TRIO UCSF GRCh37 5 14368834 14368834 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 81 162 0 ENST00000344204.4:c.2892G>A p.Ala964= p.A964= ENST00000344204 NM_007118.2 964 gcG/gcA 0 -TRIP11 UCSF GRCh37 14 92482083 92482083 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 66 154 0 ENST00000267622.4:c.780C>T p.Asp260= p.D260= ENST00000267622 NM_004239.3 260 gaC/gaT 0 -TRMT5 UCSF GRCh37 14 61441857 61441857 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0014 P18_Rec Untested WXS Illumina HiSeq 71 49 98 0 ENST00000261249.6:c.1500C>T p.Asp500= p.D500= ENST00000261249 NM_020810.2 500 gaC/gaT 0 -TRPA1 UCSF GRCh37 8 72968057 72968057 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 64 116 0 ENST00000262209.4:c.1228G>A p.Asp410Asn p.D410N ENST00000262209 NM_007332.2 410 Gac/Aac 0 -TRPC4AP UCSF GRCh37 20 33600840 33600840 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 121 74 184 0 ENST00000252015.2:c.1380G>A p.Arg460= p.R460= ENST00000252015 460 agG/agA 0 -TRPM2 UCSF GRCh37 21 45859007 45859007 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 45 36 72 0 ENST00000397928.1:c.4225G>A p.Glu1409Lys p.E1409K ENST00000397928 NM_003307.3 1409 Gag/Aag 0 -TRPM5 UCSF GRCh37 11 2441483 2441483 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 40 77 0 ENST00000155858.6:c.618G>A p.Lys206= p.K206= ENST00000155858 NM_014555.3 206 aaG/aaA 0 -TRPM6 UCSF GRCh37 9 77397347 77397347 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 94 85 176 0 ENST00000360774.1:c.3140C>T p.Pro1047Leu p.P1047L ENST00000360774 NM_017662.4 1047 cCa/cTa 0 -TRPS1 UCSF GRCh37 8 116616617 116616617 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 161 109 235 0 ENST00000395715.3:c.1579G>A p.Gly527Arg p.G527R ENST00000395715 NM_014112.2 527 Gga/Aga 0 -TRPV2 UCSF GRCh37 17 16330800 16330800 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 96 64 113 0 ENST00000338560.7:c.1289C>T p.Ser430Phe p.S430F ENST00000338560 NM_016113.4 430 tCc/tTc 0 -TRPV2 UCSF GRCh37 17 16330170 16330170 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 76 59 127 0 ENST00000338560.7:c.1230C>T p.Tyr410= p.Y410= ENST00000338560 NM_016113.4 410 taC/taT 0 -TRRAP UCSF GRCh37 7 98581887 98581887 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 368 118 397 0 ENST00000359863.4:c.9206C>T p.Thr3069Ile p.T3069I ENST00000359863 NM_001244580.1 3069 aCt/aTt 0 -TSC1 UCSF GRCh37 9 135772893 135772893 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 182 125 287 0 ENST00000298552.3:c.2730G>A p.Leu910= p.L910= ENST00000298552 NM_001162426.1 910 ttG/ttA 0 -TSEN2 UCSF GRCh37 3 12544891 12544891 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 110 88 179 0 ENST00000284995.6:c.439G>A p.Ala147Thr p.A147T ENST00000284995 NM_025265.3 147 Gct/Act 0 -TSHZ3 UCSF GRCh37 19 31768396 31768396 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 48 109 0 ENST00000240587.4:c.2303C>T p.Pro768Leu p.P768L ENST00000240587 NM_020856.2 768 cCc/cTc 0 -TSN UCSF GRCh37 2 122519079 122519079 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 197 154 307 0 ENST00000389682.3:c.352G>A p.Ala118Thr p.A118T ENST00000389682 NM_004622.2 118 Gca/Aca 0 -TSN UCSF GRCh37 2 122514836 122514836 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 50 122 0 ENST00000389682.3:c.87G>A p.Gln29= p.Q29= ENST00000389682 NM_004622.2 29 caG/caA 0 -TSPAN32 UCSF GRCh37 11 2325364 2325364 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 7 19 31 0 ENST00000182290.4:c.209G>A p.Gly70Asp p.G70D ENST00000182290 NM_139022.2 70 gGc/gAc 0 -TSPAN5 UCSF GRCh37 4 99579356 99579356 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 115 70 171 0 ENST00000305798.3:c.22G>A p.Gly8Ser p.G8S ENST00000305798 NM_005723.3 8 Ggt/Agt 0 -TSPYL2 UCSF GRCh37 X 53112481 53112481 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 47 54 0 ENST00000375442.4:c.801C>T p.Val267= p.V267= ENST00000375442 NM_022117.3 267 gtC/gtT 0 -TSSK4 UCSF GRCh37 14 24676709 24676709 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 44 119 0 ENST00000339917.5:c.828G>A p.Glu276= p.E276= ENST00000339917 NM_001184739.1 276 gaG/gaA 0 -TTBK1 UCSF GRCh37 6 43250801 43250801 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 11 7 18 0 ENST00000259750.4:c.2323G>A p.Ala775Thr p.A775T ENST00000259750 NM_032538.1 775 Gca/Aca 0 -TTC38 UCSF GRCh37 22 46668245 46668245 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 51 133 0 ENST00000381031.3:c.125C>T p.Thr42Ile p.T42I ENST00000381031 NM_017931.2 42 aCc/aTc 0 -TTC38 UCSF GRCh37 22 46669910 46669910 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 66 129 0 ENST00000381031.3:c.309G>A p.Gln103= p.Q103= ENST00000381031 NM_017931.2 103 caG/caA 0 -TTC39A UCSF GRCh37 1 51760071 51760071 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 81 76 109 0 ENST00000413473.2:c.1270C>T p.Pro424Ser p.P424S ENST00000413473 NM_001144832.1 424 Cct/Tct 0 -TTC39C UCSF GRCh37 18 21660666 21660666 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 86 67 149 0 ENST00000317571.3:c.578C>T p.Thr193Ile p.T193I ENST00000317571 NM_001135993.1 193 aCt/aTt 0 -TTC7B UCSF GRCh37 14 91142910 91142910 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 137 91 207 0 ENST00000328459.6:c.1109C>T p.Thr370Ile p.T370I ENST00000328459 NM_001010854.1 370 aCc/aTc 0 -TTF2 UCSF GRCh37 1 117618096 117618096 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 99 65 197 0 ENST00000369466.4:c.890A>G p.Asp297Gly p.D297G ENST00000369466 NM_003594.3 297 gAt/gGt 0 -TTI1 UCSF GRCh37 20 36641885 36641885 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 103 235 0 ENST00000373448.2:c.334C>T p.Pro112Ser p.P112S ENST00000373448 NM_014657.1 112 Cct/Tct 0 -TTLL2 UCSF GRCh37 6 167755101 167755101 + synonymous_variant Silent SNP G G A NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 87 65 148 0 ENST00000239587.5:c.1713G>A p.Arg571= p.R571= ENST00000239587 NM_031949.4 571 agG/agA 0 -TTLL4 UCSF GRCh37 2 219603311 219603311 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 105 184 0 ENST00000392102.1:c.912G>A p.Trp304Ter p.W304* ENST00000392102 NM_014640.4 304 tgG/tgA 0 -TTLL5 UCSF GRCh37 14 76211907 76211907 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 87 51 125 0 ENST00000298832.9:c.1470G>A p.Glu490= p.E490= ENST00000298832 NM_015072.4 490 gaG/gaA 0 -TTN UCSF GRCh37 2 179429104 179429104 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 160 107 256 0 ENST00000589042.1:c.81755G>A p.Gly27252Glu p.G27252E ENST00000589042 NM_001267550.1 27252 gGa/gAa 0 -TTN UCSF GRCh37 2 179425139 179425139 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 214 189 343 0 ENST00000589042.1:c.85720C>T p.Pro28574Ser p.P28574S ENST00000589042 NM_001267550.1 28574 Ccc/Tcc 0 -TTN UCSF GRCh37 2 179500188 179500188 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 163 95 222 0 ENST00000589042.1:c.41863C>T p.Pro13955Ser p.P13955S ENST00000589042 NM_001267550.1 13955 Cct/Tct 0 -TTN UCSF GRCh37 2 179642652 179642652 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 62 47 108 0 ENST00000589042.1:c.4259C>T p.Ala1420Val p.A1420V ENST00000589042 NM_001267550.1 1420 gCa/gTa 0 -TTN UCSF GRCh37 2 179429433 179429433 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 129 106 194 0 ENST00000589042.1:c.81426G>A p.Glu27142= p.E27142= ENST00000589042 NM_001267550.1 27142 gaG/gaA 0 -TUBAL3 UCSF GRCh37 10 5436157 5436157 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 189 70 144 0 ENST00000380419.3:c.664C>T p.Arg222Cys p.R222C ENST00000380419 NM_024803.2 222 Cgt/Tgt 0 -TUBAL3 UCSF GRCh37 10 5435827 5435827 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.00094 P18_Rec Untested WXS Illumina HiSeq 146 96 153 0 ENST00000380419.3:c.994C>T p.Pro332Ser p.P332S ENST00000380419 NM_024803.2 332 Ccc/Tcc 0 -TUBB UCSF GRCh37 6 30691620 30691620 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 129 102 220 0 ENST00000327892.8:c.781C>T p.Pro261Ser p.P261S ENST00000327892 NM_178014.2 261 Cca/Tca 0 -TUBB6 UCSF GRCh37 18 12308752 12308752 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 70 54 108 0 ENST00000317702.5:c.124C>T p.Leu42= p.L42= ENST00000317702 42 Ctg/Ttg 0 -TUFM UCSF GRCh37 16 28856684 28856684 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 211 84 204 0 ENST00000313511.3:c.365C>T p.Ala122Val p.A122V ENST00000313511 NM_003321.4 122 gCc/gTc 0 -TWF2 UCSF GRCh37 3 52269091 52269091 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 37 67 0 ENST00000305533.5:c.57G>A p.Lys19= p.K19= ENST00000305533 NM_007284.3 19 aaG/aaA 0 -TXLNG UCSF GRCh37 X 16859664 16859664 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 75 79 0 ENST00000380122.5:c.1362C>T p.Val454= p.V454= ENST00000380122 NM_018360.2 454 gtC/gtT 0 -TXNL4B UCSF GRCh37 16 72124636 72124636 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 124 101 198 0 ENST00000268483.3:c.13C>T p.Leu5= p.L5= ENST00000268483 NM_017853.2 5 Ctg/Ttg 0 -TXNRD1 UCSF GRCh37 12 104712817 104712817 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 191 155 290 0 ENST00000525566.1:c.857G>A p.Gly286Asp p.G286D ENST00000525566 NM_001093771.2 286 gGt/gAt 0 -TYK2 UCSF GRCh37 19 10475430 10475430 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 57 114 0 ENST00000525621.1:c.1227C>T p.Ser409= p.S409= ENST00000525621 NM_003331.4 409 tcC/tcT 0 -TYW1B UCSF GRCh37 7 72267497 72267497 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 191 144 289 0 ENST00000438904.2:c.764G>A p.Gly255Asp p.G255D ENST00000438904 255 gGt/gAt 0 -UBA6 UCSF GRCh37 4 68530983 68530983 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 87 59 179 0 ENST00000322244.5:c.821G>A p.Gly274Asp p.G274D ENST00000322244 NM_018227.5 274 gGt/gAt 0 -UBE2F UCSF GRCh37 2 238881803 238881803 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 152 100 234 0 ENST00000272930.4:c.54G>A p.Arg18= p.R18= ENST00000272930 NM_001278308.1 18 cgG/cgA 0 -UBE2O UCSF GRCh37 17 74397137 74397137 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 36 77 0 ENST00000319380.7:c.849G>A p.Lys283= p.K283= ENST00000319380 NM_022066.3 283 aaG/aaA 0 -UBE4B UCSF GRCh37 1 10186901 10186901 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 68 173 0 ENST00000343090.6:c.1604C>T p.Ser535Phe p.S535F ENST00000343090 NM_001105562.2 535 tCc/tTc 0 -UBQLN1 UCSF GRCh37 9 86294846 86294846 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 185 137 280 0 ENST00000376395.4:c.555G>A p.Met185Ile p.M185I ENST00000376395 NM_053067.2 185 atG/atA 0 -UBR3 UCSF GRCh37 2 170734087 170734087 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 77 173 0 ENST00000418381.1:c.928G>A p.Asp310Asn p.D310N ENST00000418381 NM_172070.3 310 Gat/Aat 0 -UBR3 UCSF GRCh37 2 170912076 170912076 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 60 102 0 ENST00000418381.1:c.4767C>T p.His1589= p.H1589= ENST00000418381 NM_172070.3 1589 caC/caT 0 -UBR4 UCSF GRCh37 1 19453150 19453150 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 42 86 0 ENST00000375254.3:c.9229-1G>A p.X3077_splice ENST00000375254 NM_020765.2 0 -UBR5 UCSF GRCh37 8 103283366 103283366 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 81 70 125 0 ENST00000520539.1:c.7081G>A p.Asp2361Asn p.D2361N ENST00000520539 NM_015902.5 2361 Gat/Aat 0 -UBTF UCSF GRCh37 17 42288315 42288315 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 29 25 74 0 ENST00000302904.4:c.1204G>A p.Gly402Ser p.G402S ENST00000302904 402 Ggc/Agc 0 -UCN3 UCSF GRCh37 10 5415867 5415867 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 62 35 43 0 ENST00000380433.3:c.184C>T p.Leu62= p.L62= ENST00000380433 NM_053049.2 62 Ctg/Ttg 0 -UGT2A3 UCSF GRCh37 4 69817062 69817062 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 105 63 170 0 ENST00000251566.4:c.417G>A p.Gln139= p.Q139= ENST00000251566 NM_024743.3 139 caG/caA 0 -UGT2B7 UCSF GRCh37 4 69964261 69964261 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 173 111 283 0 ENST00000305231.7:c.725G>A p.Arg242Lys p.R242K ENST00000305231 NM_001074.2 242 aGa/aAa 0 -UGT3A1 UCSF GRCh37 5 35965937 35965937 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 98 63 166 0 ENST00000274278.3:c.394G>A p.Asp132Asn p.D132N ENST00000274278 NM_152404.3 132 Gat/Aat 0 -UGT3A2 UCSF GRCh37 5 36035916 36035916 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 48 39 102 1 ENST00000282507.3:c.1456C>T p.Leu486Phe p.L486F ENST00000282507 NM_174914.3 486 Ctc/Ttc 0 -UGT3A2 UCSF GRCh37 5 36038081 36038081 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 64 165 0 ENST00000282507.3:c.1113G>A p.Gly371= p.G371= ENST00000282507 NM_174914.3 371 ggG/ggA 0 -BLTP3B UCSF GRCh37 12 100453025 100453025 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 115 92 180 0 ENST00000279907.7:c.2030C>T p.Thr677Ile p.T677I ENST00000279907 NM_015054.1 677 aCt/aTt 0 -ULK2 UCSF GRCh37 17 19700973 19700973 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 39 72 0 ENST00000395544.4:c.1545G>A p.Gln515= p.Q515= ENST00000395544 NM_014683.3 515 caG/caA 0 -UNC45A UCSF GRCh37 15 91486148 91486148 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 127 89 221 0 ENST00000418476.2:c.863C>T p.Ala288Val p.A288V ENST00000418476 NM_018671.3 288 gCc/gTc 0 -UNC5C UCSF GRCh37 4 96104058 96104058 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 130 90 199 0 ENST00000453304.1:c.2441C>T p.Thr814Ile p.T814I ENST00000453304 NM_003728.3 814 aCc/aTc 0 -UPF2 UCSF GRCh37 10 12021094 12021094 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 241 79 195 0 ENST00000356352.2:c.1915G>A p.Asp639Asn p.D639N ENST00000356352 639 Gat/Aat 0 -UPF2 UCSF GRCh37 10 12077080 12077080 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 282 166 267 0 ENST00000356352.2:c.343G>A p.Glu115Lys p.E115K ENST00000356352 115 Gaa/Aaa 0 -URB1 UCSF GRCh37 21 33755740 33755740 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 40 31 71 0 ENST00000382751.3:c.558G>A p.Arg186= p.R186= ENST00000382751 NM_014825.2 186 agG/agA 0 -URGCP UCSF GRCh37 7 43917741 43917741 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 123 105 213 0 ENST00000453200.1:c.1321G>A p.Ala441Thr p.A441T ENST00000453200 441 Gca/Aca 0 -USH2A UCSF GRCh37 1 216420210 216420210 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 142 129 223 0 ENST00000307340.3:c.2526C>T p.Phe842= p.F842= ENST00000307340 NM_206933.2 842 ttC/ttT 0 -USHBP1 UCSF GRCh37 19 17370229 17370229 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 107 68 151 0 ENST00000252597.3:c.915G>A p.Glu305= p.E305= ENST00000252597 NM_031941.3 305 gaG/gaA 0 -USP18 UCSF GRCh37 22 18650764 18650764 + synonymous_variant Silent SNP T T A NOVEL P18_Rec Untested WXS Illumina HiSeq 27 106 258 0 ENST00000215794.7:c.588T>A p.Leu196= p.L196= ENST00000215794 NM_017414.3 196 ctT/ctA 0 -USP19 UCSF GRCh37 3 49154746 49154746 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 38 27 78 0 ENST00000434032.2:c.655G>A p.Glu219Lys p.E219K ENST00000434032 NM_001199160.1 219 Gag/Aag 0 -USP20 UCSF GRCh37 9 132635984 132635984 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 71 50 128 0 ENST00000315480.4:c.1701G>A p.Arg567= p.R567= ENST00000315480 567 cgG/cgA 0 -USP32 UCSF GRCh37 17 58303402 58303402 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 124 91 197 0 ENST00000300896.4:c.1430G>A p.Ser477Asn p.S477N ENST00000300896 NM_032582.3 477 aGc/aAc 0 -USP34 UCSF GRCh37 2 61597500 61597500 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 114 25 244 0 ENST00000398571.2:c.1207C>T p.Arg403Ter p.R403* ENST00000398571 NM_014709.3 403 Cga/Tga 0 -USP36 UCSF GRCh37 17 76816091 76816091 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 63 192 0 ENST00000542802.3:c.832G>A p.Ala278Thr p.A278T ENST00000542802 278 Gct/Act 0 -USP42 UCSF GRCh37 7 6196395 6196395 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 34 148 0 ENST00000306177.5:c.3652G>A p.Asp1218Asn p.D1218N ENST00000306177 NM_032172.2 1218 Gac/Aac 0 -USP43 UCSF GRCh37 17 9580186 9580186 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 56 109 0 ENST00000285199.7:c.957C>T p.Val319= p.V319= ENST00000285199 NM_001267576.1 319 gtC/gtT 0 -USP43 UCSF GRCh37 17 9631548 9631548 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 102 52 162 0 ENST00000285199.7:c.2613C>T p.Ala871= p.A871= ENST00000285199 NM_001267576.1 871 gcC/gcT 0 -USP44 UCSF GRCh37 12 95926690 95926690 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 68 182 0 ENST00000258499.3:c.1343C>T p.Ala448Val p.A448V ENST00000258499 NM_032147.3 448 gCt/gTt 0 -USP48 UCSF GRCh37 1 22083161 22083161 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 102 244 0 ENST00000308271.9:c.290C>T p.Thr97Ile p.T97I ENST00000308271 NM_032236.5 97 aCt/aTt 0 -USP51 UCSF GRCh37 X 55513774 55513774 + synonymous_variant Silent SNP A A C NOVEL P18_Rec Untested WXS Illumina HiSeq 8 51 69 0 ENST00000500968.3:c.1599T>G p.Ala533= p.A533= ENST00000500968 NM_201286.3 533 gcT/gcG 0 -USP7 UCSF GRCh37 16 8997143 8997143 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 120 49 139 0 ENST00000344836.4:c.1821G>A p.Gln607= p.Q607= ENST00000344836 NM_003470.2 607 caG/caA 0 -USP7 UCSF GRCh37 16 9009190 9009190 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 227 92 203 0 ENST00000344836.4:c.999G>A p.Gln333= p.Q333= ENST00000344836 NM_003470.2 333 caG/caA 0 -USPL1 UCSF GRCh37 13 31232629 31232629 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 103 55 189 0 ENST00000255304.4:c.2415C>T p.Asn805= p.N805= ENST00000255304 NM_005800.4 805 aaC/aaT 0 -VAMP1 UCSF GRCh37 12 6575007 6575007 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 54 69 124 0 ENST00000396308.3:c.288+1G>A p.X96_splice ENST00000396308 NM_199245.1 0 -VAMP4 UCSF GRCh37 1 171697711 171697711 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 27 21 49 0 ENST00000236192.7:c.67-1G>A p.X23_splice ENST00000236192 NM_003762.4 0 -VANGL1 UCSF GRCh37 1 116206884 116206884 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 27 19 52 0 ENST00000355485.2:c.807C>T p.His269= p.H269= ENST00000355485 NM_001172411.1 269 caC/caT 0 -VARS UCSF GRCh37 6 31760855 31760855 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 46 34 60 0 ENST00000375663.3:c.430G>A p.Glu144Lys p.E144K ENST00000375663 NM_006295.2 144 Gag/Aag 0 -VARS2 UCSF GRCh37 6 30882677 30882677 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 58 64 134 0 ENST00000541562.1:c.154C>T p.Leu52Phe p.L52F ENST00000541562 NM_001167734.1 52 Ctc/Ttc 0 -VARS2 UCSF GRCh37 6 30892185 30892185 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 19 25 62 0 ENST00000541562.1:c.2611G>A p.Val871Ile p.V871I ENST00000541562 NM_001167734.1 871 Gtc/Atc 0 -VAT1 UCSF GRCh37 17 41168536 41168536 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 29 70 0 ENST00000355653.3:c.886C>T p.Arg296Trp p.R296W ENST00000355653 NM_006373.3 296 Cgg/Tgg 0 -VAV2 UCSF GRCh37 9 136857324 136857324 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 9 15 0 ENST00000371850.3:c.77C>T p.Pro26Leu p.P26L ENST00000371850 NM_001134398.1 26 cCc/cTc 0 -VAX2 UCSF GRCh37 2 71160000 71160000 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 31 22 67 0 ENST00000234392.2:c.539C>T p.Ser180Phe p.S180F ENST00000234392 NM_012476.2 180 tCc/tTc 0 -VEGFC UCSF GRCh37 4 177649081 177649081 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 96 69 150 0 ENST00000280193.2:c.403G>A p.Glu135Lys p.E135K ENST00000280193 NM_005429.3 135 Gag/Aag 0 -VGLL3 UCSF GRCh37 3 87039824 87039824 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 29 10 44 0 ENST00000398399.2:c.70G>A p.Ala24Thr p.A24T ENST00000398399 NM_016206.2 24 Gca/Aca 0 -VIL1 UCSF GRCh37 2 219295554 219295554 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 56 34 103 0 ENST00000248444.5:c.1055C>T p.Ser352Phe p.S352F ENST00000248444 NM_007127.2 352 tCc/tTc 0 -VIL1 UCSF GRCh37 2 219301967 219301967 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 73 145 0 ENST00000248444.5:c.2092G>A p.Val698Met p.V698M ENST00000248444 NM_007127.2 698 Gtg/Atg 0 -VIPR2 UCSF GRCh37 7 158824555 158824555 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 43 113 0 ENST00000262178.2:c.1107G>A p.Leu369= p.L369= ENST00000262178 NM_003382.4 369 ctG/ctA 0 -VIT UCSF GRCh37 2 37041492 37041492 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 20 64 147 0 ENST00000379242.3:c.2070G>A p.Gln690= p.Q690= ENST00000379242 NM_053276.3 690 caG/caA 0 -VOPP1 UCSF GRCh37 7 55560094 55560094 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 23 13 41 0 ENST00000285279.5:c.209G>A p.Gly70Asp p.G70D ENST00000285279 NM_030796.3 70 gGc/gAc 0 -VPRBP UCSF GRCh37 3 51475733 51475733 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 211 150 346 0 ENST00000504652.1:c.694G>A p.Glu232Lys p.E232K ENST00000504652 232 Gaa/Aaa 0 -VPS13D UCSF GRCh37 1 12429692 12429692 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 139 99 228 0 ENST00000358136.3:c.10743C>T p.Phe3581= p.F3581= ENST00000358136 NM_015378.2 3581 ttC/ttT 0 -VPS13D UCSF GRCh37 1 12557575 12557575 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 66 110 0 ENST00000358136.3:c.12684G>A p.Arg4228= p.R4228= ENST00000358136 NM_015378.2 4228 cgG/cgA 0 -VPS33A UCSF GRCh37 12 122726966 122726966 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 94 209 0 ENST00000267199.4:c.1059C>T p.Asn353= p.N353= ENST00000267199 NM_022916.4 353 aaC/aaT 0 -VPS33B UCSF GRCh37 15 91543182 91543182 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 126 102 205 0 ENST00000333371.3:c.1605G>A p.Gln535= p.Q535= ENST00000333371 NM_018668.3 535 caG/caA 0 -VPS39 UCSF GRCh37 15 42454583 42454583 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 74 51 116 0 ENST00000318006.5:c.2272C>T p.Gln758Ter p.Q758* ENST00000318006 NM_015289.2 758 Cag/Tag 0 -VPS39 UCSF GRCh37 15 42453939 42453939 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 175 109 221 0 ENST00000318006.5:c.2493G>A p.Val831= p.V831= ENST00000318006 NM_015289.2 831 gtG/gtA 0 -VPS53 UCSF GRCh37 17 465893 465893 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 70 65 118 0 ENST00000437048.2:c.1406C>T p.Pro469Leu p.P469L ENST00000437048 NM_001128159.2 469 cCc/cTc 0 -VPS54 UCSF GRCh37 2 64161058 64161058 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 19 56 117 0 ENST00000272322.4:c.1488G>A p.Lys496= p.K496= ENST00000272322 496 aaG/aaA 0 -VSIG10L UCSF GRCh37 19 51840535 51840535 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 28 19 51 0 ENST00000335624.4:c.2262G>A p.Gly754= p.G754= ENST00000335624 NM_001163922.1 754 ggG/ggA 0 -VSTM4 UCSF GRCh37 10 50315883 50315883 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 64 46 142 0 ENST00000332853.4:c.213G>A p.Gln71= p.Q71= ENST00000332853 NM_001031746.3 71 caG/caA 0 -VTN UCSF GRCh37 17 26694933 26694933 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 32 25 62 0 ENST00000226218.4:c.1127G>A p.Arg376His p.R376H ENST00000226218 NM_000638.3 376 cGc/cAc 0 -VWA3B UCSF GRCh37 2 98846658 98846658 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 79 61 118 0 ENST00000477737.1:c.2296G>A p.Val766Ile p.V766I ENST00000477737 NM_144992.4 766 Gtc/Atc 0 -VWA5B2 UCSF GRCh37 3 183958847 183958847 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 16 35 0 ENST00000426955.2:c.2914C>T p.His972Tyr p.H972Y ENST00000426955 NM_138345.1 972 Cac/Tac 0 -VWDE UCSF GRCh37 7 12376886 12376886 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 77 45 122 0 ENST00000275358.3:c.4379C>T p.Pro1460Leu p.P1460L ENST00000275358 NM_001135924.1 1460 cCt/cTt 0 -WAPAL UCSF GRCh37 10 88211755 88211755 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 97 79 165 0 ENST00000298767.5:c.3083G>A p.Gly1028Glu p.G1028E ENST00000298767 NM_015045.2 1028 gGa/gAa 0 -WAPAL UCSF GRCh37 10 88233649 88233649 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 142 90 212 0 ENST00000298767.5:c.1726C>T p.Pro576Ser p.P576S ENST00000298767 NM_015045.2 576 Cct/Tct 0 -WBP4 UCSF GRCh37 13 41639178 41639178 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 49 134 0 ENST00000379487.3:c.102G>A p.Lys34= p.K34= ENST00000379487 NM_007187.3 34 aaG/aaA 0 -WDFY3 UCSF GRCh37 4 85771060 85771060 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 154 100 247 0 ENST00000295888.4:c.299C>T p.Ser100Phe p.S100F ENST00000295888 NM_014991.4 100 tCc/tTc 0 -WDFY3 UCSF GRCh37 4 85599335 85599335 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 91 72 177 0 ENST00000295888.4:c.10245C>T p.Ala3415= p.A3415= ENST00000295888 NM_014991.4 3415 gcC/gcT 0 -WDFY3 UCSF GRCh37 4 85605246 85605246 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 93 50 143 0 ENST00000295888.4:c.9576C>T p.Ile3192= p.I3192= ENST00000295888 NM_014991.4 3192 atC/atT 0 -WDFY4 UCSF GRCh37 10 50040716 50040716 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 112 108 168 0 ENST00000325239.5:c.6625C>T p.Pro2209Ser p.P2209S ENST00000325239 NM_020945.1 2209 Ccc/Tcc 0 -WDFY4 UCSF GRCh37 10 49951044 49951044 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 29 21 51 0 ENST00000325239.5:c.1910G>A p.Gly637Asp p.G637D ENST00000325239 NM_020945.1 637 gGt/gAt 0 -WDR11 UCSF GRCh37 10 122645451 122645451 + splice_donor_variant Splice_Site SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 68 144 0 ENST00000263461.6:c.1973+1G>A p.X658_splice ENST00000263461 NM_018117.11 0 -WDR36 UCSF GRCh37 5 110441832 110441832 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 80 162 0 ENST00000506538.2:c.1338G>A p.Lys446= p.K446= ENST00000506538 NM_139281.2 446 aaG/aaA 0 -WDR47 UCSF GRCh37 1 109533922 109533922 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 88 193 1 ENST00000400794.3:c.1745C>T p.Pro582Leu p.P582L ENST00000400794 582 cCt/cTt 0 -WDR48 UCSF GRCh37 3 39116230 39116230 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 80 52 111 0 ENST00000302313.5:c.686G>A p.Ser229Asn p.S229N ENST00000302313 NM_020839.2 229 aGt/aAt 0 -WDR54 UCSF GRCh37 2 74650480 74650480 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 127 111 187 0 ENST00000348227.4:c.320G>A p.Trp107Ter p.W107* ENST00000348227 NM_032118.2 107 tGg/tAg 0 -WDR60 UCSF GRCh37 7 158662547 158662547 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 100 68 186 0 ENST00000407559.3:c.17G>A p.Arg6Lys p.R6K ENST00000407559 NM_018051.4 6 aGa/aAa 0 -SKIC8 UCSF GRCh37 15 78585531 78585531 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 80 184 0 ENST00000267973.2:c.124G>A p.Asp42Asn p.D42N ENST00000267973 42 Gac/Aac 0 -WDR63 UCSF GRCh37 1 85592310 85592310 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 82 75 139 0 ENST00000294664.6:c.2229G>A p.Trp743Ter p.W743* ENST00000294664 NM_145172.3 743 tgG/tgA 0 -WDR69 UCSF GRCh37 2 228786134 228786134 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 109 96 182 0 ENST00000309931.2:c.1070G>A p.Gly357Glu p.G357E ENST00000309931 NM_178821.1 357 gGg/gAg 0 -WDR76 UCSF GRCh37 15 44158475 44158475 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 106 122 212 0 ENST00000263795.6:c.1766G>A p.Gly589Glu p.G589E ENST00000263795 NM_001167941.1 589 gGa/gAa 0 -WDR82 UCSF GRCh37 3 52293841 52293841 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 201 139 258 0 ENST00000296490.3:c.591G>A p.Trp197Ter p.W197* ENST00000296490 NM_025222.3 197 tgG/tgA 0 -WDR87 UCSF GRCh37 19 38377607 38377607 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 150 104 241 0 ENST00000303868.5:c.6587G>A p.Arg2196Lys p.R2196K ENST00000303868 NM_031951.3 2196 aGg/aAg 0 -WDR87 UCSF GRCh37 19 38385526 38385526 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 25 17 33 0 ENST00000303868.5:c.700G>A p.Gly234Ser p.G234S ENST00000303868 NM_031951.3 234 Ggc/Agc 0 -WDR90 UCSF GRCh37 16 706475 706475 + stop_gained Nonsense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 3 16 0 ENST00000293879.4:c.2140C>T p.Gln714Ter p.Q714* ENST00000293879 714 Cag/Tag 0 -WDR91 UCSF GRCh37 7 134873185 134873185 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 74 142 0 ENST00000354475.4:c.1881G>A p.Lys627= p.K627= ENST00000354475 NM_014149.3 627 aaG/aaA 0 -WFDC12 UCSF GRCh37 20 43752816 43752816 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 34 123 0 ENST00000372785.3:c.170G>A p.Gly57Glu p.G57E ENST00000372785 NM_080869.1 57 gGg/gAg 0 -WFDC12 UCSF GRCh37 20 43752779 43752779 + missense_variant Missense_Mutation SNP C C G NOVEL P18_Rec Untested WXS Illumina HiSeq 65 34 114 0 ENST00000372785.3:c.207G>C p.Lys69Asn p.K69N ENST00000372785 NM_080869.1 69 aaG/aaC 0 -WHSC1 UCSF GRCh37 4 1902712 1902712 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 72 65 140 0 ENST00000382891.5:c.331C>T p.Pro111Ser p.P111S ENST00000382891 NM_133335.3 111 Ccc/Tcc 0 -WHSC1 UCSF GRCh37 4 1936936 1936936 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 111 213 0 ENST00000382891.5:c.1621G>A p.Ala541Thr p.A541T ENST00000382891 NM_133335.3 541 Gct/Act 0 -WHSC1 UCSF GRCh37 4 1962801 1962801 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 101 208 0 ENST00000382891.5:c.3295G>A p.Glu1099Lys p.E1099K ENST00000382891 NM_133335.3 1099 Gag/Aag 0 -WIPI2 UCSF GRCh37 7 5254295 5254295 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 133 109 226 0 ENST00000288828.4:c.341G>A p.Ser114Asn p.S114N ENST00000288828 NM_001278299.1 114 aGc/aAc 0 -WIZ UCSF GRCh37 19 15537936 15537936 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 43 91 0 ENST00000263381.7:c.938C>T p.Pro313Leu p.P313L ENST00000263381 NM_021241.2 313 cCc/cTc 0 -WNK3 UCSF GRCh37 X 54259424 54259424 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 16 89 106 0 ENST00000354646.2:c.4658C>T p.Thr1553Ile p.T1553I ENST00000354646 NM_020922.4 1553 aCc/aTc 0 -WNT1 UCSF GRCh37 12 49373497 49373497 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 8 24 48 0 ENST00000293549.3:c.351C>T p.Val117= p.V117= ENST00000293549 NM_005430.3 117 gtC/gtT 0 -WNT2B UCSF GRCh37 1 113057690 113057690 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 51 38 93 0 ENST00000369684.4:c.377C>T p.Thr126Ile p.T126I ENST00000369684 NM_024494.2 126 aCc/aTc 0 -WNT7B UCSF GRCh37 22 46327072 46327072 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 59 34 103 0 ENST00000339464.4:c.476G>A p.Gly159Asp p.G159D ENST00000339464 NM_058238.2 159 gGc/gAc 0 -WNT9A UCSF GRCh37 1 228109320 228109320 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 40 26 68 0 ENST00000272164.5:c.997C>T p.Arg333Trp p.R333W ENST00000272164 NM_003395.2 333 Cgg/Tgg 0 -WSB2 UCSF GRCh37 12 118476159 118476159 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 36 77 0 ENST00000315436.3:c.594G>A p.Gln198= p.Q198= ENST00000315436 NM_018639.4 198 caG/caA 0 -WWP2 UCSF GRCh37 16 69964091 69964091 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 46 61 86 0 ENST00000359154.2:c.1375G>A p.Val459Met p.V459M ENST00000359154 NM_001270454.1 459 Gtg/Atg 0 -WWTR1 UCSF GRCh37 3 149260308 149260308 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 42 108 0 ENST00000360632.3:c.585C>T p.His195= p.H195= ENST00000360632 NM_015472.4 195 caC/caT 0 -XCL2 UCSF GRCh37 1 168510233 168510233 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 71 67 145 0 ENST00000367819.2:c.302G>A p.Gly101Glu p.G101E ENST00000367819 NM_003175.3 101 gGa/gAa 0 -XCR1 UCSF GRCh37 3 46063248 46063248 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 47 50 98 0 ENST00000309285.3:c.192C>T p.Ser64= p.S64= ENST00000309285 NM_001024644.1 64 tcC/tcT 0 -XIRP1 UCSF GRCh37 3 39228860 39228860 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 55 103 0 ENST00000340369.3:c.2077G>A p.Val693Met p.V693M ENST00000340369 NM_194293.2 693 Gtg/Atg 0 -XIRP1 UCSF GRCh37 3 39229708 39229708 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 178 133 249 0 ENST00000340369.3:c.1229G>A p.Gly410Asp p.G410D ENST00000340369 NM_194293.2 410 gGt/gAt 0 -XIRP1 UCSF GRCh37 3 39228192 39228192 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 60 29 83 0 ENST00000340369.3:c.2745G>A p.Arg915= p.R915= ENST00000340369 NM_194293.2 915 cgG/cgA 0 -XIRP2 UCSF GRCh37 2 168103905 168103905 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 86 77 142 0 ENST00000409195.1:c.6003G>A p.Met2001Ile p.M2001I ENST00000409195 NM_152381.5 2001 atG/atA 0 -XIRP2 UCSF GRCh37 2 168107768 168107768 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Rec Untested WXS Illumina HiSeq 150 101 244 0 ENST00000409195.1:c.9866G>C p.Ser3289Thr p.S3289T ENST00000409195 NM_152381.5 3289 aGt/aCt 0 -XIRP2 UCSF GRCh37 2 168115309 168115309 + 3_prime_UTR_variant 3'UTR SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 72 198 0 ENST00000409195.1:c.*982G>A *328* ENST00000409195 NM_152381.5 0 -XKR7 UCSF GRCh37 20 30584735 30584735 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 78 59 136 0 ENST00000562532.2:c.1215C>T p.Ser405= p.S405= ENST00000562532 NM_001011718.1 405 agC/agT 0 -XKRX UCSF GRCh37 X 100169423 100169423 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 26 147 144 0 ENST00000372956.2:c.1254C>T p.Asp418= p.D418= ENST00000372956 418 gaC/gaT 0 -XPR1 UCSF GRCh37 1 180772570 180772570 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 90 161 0 ENST00000367590.4:c.270G>A p.Glu90= p.E90= ENST00000367590 NM_004736.3 90 gaG/gaA 0 -YSK4 UCSF GRCh37 2 135744645 135744645 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 160 96 248 0 ENST00000375845.3:c.1797G>A p.Lys599= p.K599= ENST00000375845 NM_025052.3 599 aaG/aaA 0 -YTHDC1 UCSF GRCh37 4 69196001 69196001 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 33 100 0 ENST00000344157.4:c.1150G>A p.Glu384Lys p.E384K ENST00000344157 NM_001031732.2 384 Gag/Aag 0 -YTHDC1 UCSF GRCh37 4 69184300 69184300 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 46 83 0 ENST00000344157.4:c.1762-1G>A p.X588_splice ENST00000344157 NM_001031732.2 0 -YTHDC2 UCSF GRCh37 5 112851004 112851004 + missense_variant Missense_Mutation SNP A A G NOVEL P18_Rec Untested WXS Illumina HiSeq 142 92 169 0 ENST00000161863.4:c.223A>G p.Arg75Gly p.R75G ENST00000161863 NM_022828.3 75 Aga/Gga 0 -YTHDF2 UCSF GRCh37 1 29069051 29069051 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 156 109 261 0 ENST00000373812.3:c.269G>A p.Gly90Glu p.G90E ENST00000373812 NM_016258.2 90 gGa/gAa 0 -YY1 UCSF GRCh37 14 100742893 100742893 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 121 80 190 0 ENST00000262238.4:c.970G>A p.Val324Ile p.V324I ENST00000262238 NM_003403.4 324 Gtc/Atc 0 -YY1 UCSF GRCh37 14 100743830 100743830 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 118 86 187 0 ENST00000262238.4:c.1138G>A p.Asp380Asn p.D380N ENST00000262238 NM_003403.4 380 Gac/Aac 0 -ZAN UCSF GRCh37 7 100350307 100350307 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 10 16 15 0 ENST00000546292.1:c.2579C>T p.Pro860Leu p.P860L ENST00000546292 NM_173059.1 860 cCc/cTc 0 -ZAN UCSF GRCh37 7 100383720 100383720 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 128 78 177 0 ENST00000546292.1:c.6933C>T p.Cys2311= p.C2311= ENST00000546292 NM_173059.1 2311 tgC/tgT 0 -ZAN UCSF GRCh37 7 100365518 100365518 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 90 69 123 0 ENST00000546292.1:c.4925G>A p.Ser1642Asn p.S1642N ENST00000546292 NM_173059.1 1642 aGc/aAc 0 -ZBED4 UCSF GRCh37 22 50278716 50278716 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 108 91 205 0 ENST00000216268.5:c.1406C>T p.Pro469Leu p.P469L ENST00000216268 NM_014838.2 469 cCc/cTc 0 -ZBTB11 UCSF GRCh37 3 101371436 101371436 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 132 91 248 0 ENST00000312938.4:c.2548G>A p.Gly850Arg p.G850R ENST00000312938 NM_014415.3 850 Gga/Aga 0 -ZBTB38 UCSF GRCh37 3 141164212 141164212 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 50 42 84 0 ENST00000514251.1:c.2982G>A p.Gly994= p.G994= ENST00000514251 994 ggG/ggA 0 -ZBTB45 UCSF GRCh37 19 59028884 59028884 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 66 51 121 0 ENST00000594051.1:c.157G>A p.Ala53Thr p.A53T ENST00000594051 53 Gcc/Acc 0 -ZBTB45 UCSF GRCh37 19 59028490 59028490 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 59 126 0 ENST00000594051.1:c.551C>T p.Pro184Leu p.P184L ENST00000594051 184 cCc/cTc 0 -ZBTB7C UCSF GRCh37 18 45566509 45566509 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 46 123 0 ENST00000588982.1:c.970C>T p.Pro324Ser p.P324S ENST00000588982 324 Ccc/Tcc 0 -ZC3H12A UCSF GRCh37 1 37948447 37948447 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 88 51 116 0 ENST00000373087.6:c.1035C>T p.Pro345= p.P345= ENST00000373087 NM_025079.2 345 ccC/ccT 0 -ZC3H12C UCSF GRCh37 11 110035699 110035699 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 177 143 297 0 ENST00000278590.3:c.1889G>A p.Gly630Glu p.G630E ENST00000278590 NM_033390.1 630 gGg/gAg 0 -ZC3H6 UCSF GRCh37 2 113069414 113069414 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 98 240 0 ENST00000409871.1:c.647G>A p.Gly216Asp p.G216D ENST00000409871 NM_198581.2 216 gGt/gAt 0 -ZC3H6 UCSF GRCh37 2 113088668 113088668 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 137 90 195 0 ENST00000409871.1:c.2173G>A p.Glu725Lys p.E725K ENST00000409871 NM_198581.2 725 Gaa/Aaa 0 -ZC3H6 UCSF GRCh37 2 113089968 113089968 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 153 105 234 0 ENST00000409871.1:c.3473G>A p.Ser1158Asn p.S1158N ENST00000409871 NM_198581.2 1158 aGc/aAc 0 -ZCCHC14 UCSF GRCh37 16 87445700 87445700 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 25 67 0 ENST00000268616.4:c.2216C>T p.Pro739Leu p.P739L ENST00000268616 NM_015144.2 739 cCt/cTt 0 -ZCWPW2 UCSF GRCh37 3 28476702 28476702 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 124 94 181 0 ENST00000383768.2:c.434C>T p.Pro145Leu p.P145L ENST00000383768 145 cCc/cTc 0 -ZDHHC17 UCSF GRCh37 12 77244705 77244705 + stop_gained Nonsense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 176 123 306 0 ENST00000426126.2:c.1839G>A p.Trp613Ter p.W613* ENST00000426126 NM_015336.2 613 tgG/tgA 0 -ZDHHC23 UCSF GRCh37 3 113673143 113673143 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 50 37 105 0 ENST00000330212.3:c.758C>T p.Pro253Leu p.P253L ENST00000330212 NM_173570.3 253 cCc/cTc 0 -ZEB1 UCSF GRCh37 10 31812964 31812964 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 357 129 302 0 ENST00000361642.5:c.2708G>A p.Gly903Glu p.G903E ENST00000361642 NM_001174093.1 903 gGa/gAa 0 -ZFC3H1 UCSF GRCh37 12 72020039 72020039 + splice_donor_variant Splice_Site SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 17 70 168 0 ENST00000378743.3:c.4317+1G>A p.X1439_splice ENST00000378743 NM_144982.4 0 -ZFHX2 UCSF GRCh37 14 24002695 24002695 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 44 29 58 0 ENST00000419474.3:c.1840G>A p.Gly614Arg p.G614R ENST00000419474 NM_033400.2 614 Ggg/Agg 0 -ZFHX2 UCSF GRCh37 14 24004210 24004210 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 52 44 118 0 ENST00000419474.3:c.325G>A p.Asp109Asn p.D109N ENST00000419474 NM_033400.2 109 Gac/Aac 0 -ZFHX3 UCSF GRCh37 16 72829959 72829959 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 144 103 218 0 ENST00000268489.5:c.6622C>T p.Pro2208Ser p.P2208S ENST00000268489 NM_006885.3 2208 Cct/Tct 0 -ZFP30 UCSF GRCh37 19 38126599 38126599 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 117 93 207 0 ENST00000351218.2:c.843G>A p.Gln281= p.Q281= ENST00000351218 NM_014898.2 281 caG/caA 0 -ZFP92 UCSF GRCh37 X 152686803 152686803 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 1 24 28 0 ENST00000338647.5:c.968G>A p.Arg323His p.R323H ENST00000338647 NM_001136273.1 323 cGc/cAc 0 -ZFPM2 UCSF GRCh37 8 106573677 106573677 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 171 110 254 0 ENST00000407775.2:c.388C>T p.Pro130Ser p.P130S ENST00000407775 NM_012082.3 130 Cct/Tct 0 -ZFY UCSF GRCh37 Y 2829565 2829565 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 24 131 159 0 ENST00000155093.3:c.512T>C p.Ile171Thr p.I171T ENST00000155093 NM_003411.3 171 aTa/aCa 0 -ZFYVE16 UCSF GRCh37 5 79733758 79733758 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 67 154 0 ENST00000338008.5:c.1254G>A p.Gln418= p.Q418= ENST00000338008 NM_014733.3 418 caG/caA 0 -ZFYVE20 UCSF GRCh37 3 15115414 15115414 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 68 163 0 ENST00000253699.3:c.2230G>A p.Asp744Asn p.D744N ENST00000253699 NM_022340.2 744 Gat/Aat 0 -ZFYVE26 UCSF GRCh37 14 68234548 68234548 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 90 82 155 0 ENST00000347230.4:c.5663G>A p.Ser1888Asn p.S1888N ENST00000347230 NM_015346.3 1888 aGc/aAc 0 -ZFYVE26 UCSF GRCh37 14 68264935 68264935 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 83 49 130 0 ENST00000347230.4:c.2044G>A p.Glu682Lys p.E682K ENST00000347230 NM_015346.3 682 Gaa/Aaa 0 -ZFYVE28 UCSF GRCh37 4 2306047 2306047 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 69 48 84 0 ENST00000290974.2:c.2020C>T p.His674Tyr p.H674Y ENST00000290974 NM_020972.2 674 Cac/Tac 0 -ZFYVE9 UCSF GRCh37 1 52803605 52803605 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 38 33 70 0 ENST00000287727.3:c.3832G>A p.Gly1278Ser p.G1278S ENST00000287727 NM_004799.3 1278 Ggt/Agt 0 -ZKSCAN5 UCSF GRCh37 7 99123443 99123443 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 103 99 197 0 ENST00000394170.2:c.780G>A p.Glu260= p.E260= ENST00000394170 NM_014569.3 260 gaG/gaA 0 -ZMYM2 UCSF GRCh37 13 20632781 20632781 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 210 111 313 0 ENST00000382869.3:c.2560C>T p.Pro854Ser p.P854S ENST00000382869 NM_001190965.1 854 Cct/Tct 0 -ZNF12 UCSF GRCh37 7 6730763 6730763 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 167 142 250 0 ENST00000405858.1:c.1810G>A p.Ala604Thr p.A604T ENST00000405858 NM_016265.3 604 Gcc/Acc 0 -ZNF133 UCSF GRCh37 20 18296873 18296873 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 94 71 158 0 ENST00000377671.3:c.1375C>T p.His459Tyr p.H459Y ENST00000377671 NM_003434.4 459 Cac/Tac 0 -ZNF133 UCSF GRCh37 20 18286988 18286988 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 53 33 84 0 ENST00000377671.3:c.168G>A p.Gly56= p.G56= ENST00000377671 NM_003434.4 56 ggG/ggA 0 -ZNF141 UCSF GRCh37 4 367239 367239 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 212 105 306 0 ENST00000240499.7:c.1013C>T p.Pro338Leu p.P338L ENST00000240499 NM_003441.2 338 cCc/cTc 0 -ZNF148 UCSF GRCh37 3 125007042 125007042 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 91 68 125 0 ENST00000360647.4:c.364G>A p.Asp122Asn p.D122N ENST00000360647 NM_021964.2 122 Gat/Aat 0 -ZNF167 UCSF GRCh37 3 44612845 44612845 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 89 216 0 ENST00000273320.3:c.2243G>A p.Gly748Asp p.G748D ENST00000273320 NM_018651.2 748 gGt/gAt 0 -ZNF189 UCSF GRCh37 9 104171069 104171069 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 167 113 197 0 ENST00000339664.2:c.1019G>A p.Gly340Asp p.G340D ENST00000339664 NM_001278240.1 340 gGc/gAc 0 -ZNF207 UCSF GRCh37 17 30688510 30688510 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 73 25 82 0 ENST00000394670.4:c.575C>T p.Thr192Ile p.T192I ENST00000394670 NM_001098507.1 192 aCc/aTc 0 -ZNF208 UCSF GRCh37 19 22156272 22156272 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 147 104 314 0 ENST00000397126.4:c.1564G>A p.Glu522Lys p.E522K ENST00000397126 NM_007153.3 522 Gag/Aag 0 -ZNF232 UCSF GRCh37 17 5009700 5009700 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 116 77 198 0 ENST00000250076.3:c.754G>A p.Asp252Asn p.D252N ENST00000250076 NM_014519.2 252 Gac/Aac 0 -ZNF259 UCSF GRCh37 11 116655613 116655613 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 54 42 96 0 ENST00000227322.3:c.778C>T p.Pro260Ser p.P260S ENST00000227322 NM_003904.3 260 Cca/Tca 0 -ZNF273 UCSF GRCh37 7 64388509 64388509 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 48 167 0 ENST00000476120.1:c.803G>A p.Gly268Asp p.G268D ENST00000476120 NM_021148.2 268 gGc/gAc 0 -ZNF273 UCSF GRCh37 7 64378666 64378666 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 189 89 244 0 ENST00000476120.1:c.321C>T p.Pro107= p.P107= ENST00000476120 NM_021148.2 107 ccC/ccT 0 -ZNF274 UCSF GRCh37 19 58718448 58718448 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 43 19 53 0 ENST00000326804.4:c.616G>A p.Glu206Lys p.E206K ENST00000326804 NM_133502.2 206 Gag/Aag 0 -ZNF276 UCSF GRCh37 16 89804646 89804646 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 16 17 28 0 ENST00000443381.2:c.1837C>T p.Pro613Ser p.P613S ENST00000443381 NM_001113525.1 613 Ccc/Tcc 0 -ZNF280D UCSF GRCh37 15 56968955 56968955 + missense_variant Missense_Mutation SNP A A C NOVEL P18_Rec Untested WXS Illumina HiSeq 158 97 209 0 ENST00000267807.7:c.1323T>G p.His441Gln p.H441Q ENST00000267807 NM_017661.2 441 caT/caG 0 -ZNF280D UCSF GRCh37 15 56969839 56969839 + missense_variant Missense_Mutation SNP G G C NOVEL P18_Rec Untested WXS Illumina HiSeq 75 46 114 0 ENST00000267807.7:c.1196C>G p.Thr399Arg p.T399R ENST00000267807 NM_017661.2 399 aCa/aGa 0 -ZNF281 UCSF GRCh37 1 200376691 200376691 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 98 219 0 ENST00000294740.3:c.2143C>T p.Pro715Ser p.P715S ENST00000294740 NM_001281293.1 715 Cct/Tct 0 -ZNF282 UCSF GRCh37 7 148895529 148895529 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 97 72 141 0 ENST00000262085.3:c.270G>A p.Gln90= p.Q90= ENST00000262085 NM_003575.2 90 caG/caA 0 -ZNF317 UCSF GRCh37 19 9271310 9271310 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 72 45 119 0 ENST00000247956.6:c.989G>A p.Gly330Glu p.G330E ENST00000247956 NM_020933.4 330 gGa/gAa 0 -ZNF335 UCSF GRCh37 20 44596467 44596467 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 48 30 104 0 ENST00000322927.2:c.720G>A p.Val240= p.V240= ENST00000322927 NM_022095.3 240 gtG/gtA 0 -ZNF343 UCSF GRCh37 20 2464326 2464326 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 138 93 210 0 ENST00000278772.4:c.1281C>T p.His427= p.H427= ENST00000278772 NM_024325.4 427 caC/caT 0 -ZNF418 UCSF GRCh37 19 58437817 58437817 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 137 93 225 0 ENST00000396147.1:c.1732C>T p.Leu578Phe p.L578F ENST00000396147 NM_133460.1 578 Ctc/Ttc 0 -ZNF432 UCSF GRCh37 19 52537770 52537770 + missense_variant Missense_Mutation SNP T T C NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 166 133 272 0 ENST00000594154.1:c.1162A>G p.Met388Val p.M388V ENST00000594154 388 Atg/Gtg 0 -ZNF434 UCSF GRCh37 16 3433147 3433147 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 157 85 134 0 ENST00000304926.3:c.1163C>T p.Thr388Ile p.T388I ENST00000304926 NM_017810.2 388 aCc/aTc 0 -ZNF440 UCSF GRCh37 19 11943637 11943637 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 136 99 216 0 ENST00000304060.5:c.1646G>A p.Gly549Glu p.G549E ENST00000304060 NM_152357.2 549 gGa/gAa 0 -ZNF445 UCSF GRCh37 3 44488170 44488170 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 150 129 275 0 ENST00000425708.2:c.2993G>A p.Arg998Lys p.R998K ENST00000425708 998 aGa/aAa 0 -ZNF451 UCSF GRCh37 6 57017077 57017077 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 68 66 154 0 ENST00000370706.4:c.2811G>A p.Arg937= p.R937= ENST00000370706 NM_001031623.2 937 agG/agA 0 -ZNF462 UCSF GRCh37 9 109688504 109688504 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 102 76 164 0 ENST00000277225.5:c.2311G>A p.Glu771Lys p.E771K ENST00000277225 771 Gag/Aag 0 -ZNF462 UCSF GRCh37 9 109691673 109691673 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 112 78 150 0 ENST00000277225.5:c.5480G>A p.Gly1827Asp p.G1827D ENST00000277225 1827 gGc/gAc 0 -ZNF473 UCSF GRCh37 19 50542435 50542435 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 96 65 162 0 ENST00000595661.1:c.27G>A p.Lys9= p.K9= ENST00000595661 9 aaG/aaA 0 -ZNF496 UCSF GRCh37 1 247473629 247473629 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 56 50 106 0 ENST00000294753.4:c.781C>T p.Pro261Ser p.P261S ENST00000294753 NM_032752.1 261 Cca/Tca 0 -ZNF497 UCSF GRCh37 19 58867996 58867996 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 9 10 18 0 ENST00000311044.3:c.1006G>A p.Gly336Ser p.G336S ENST00000311044 NM_198458.2 336 Ggc/Agc 0 -ZNF500 UCSF GRCh37 16 4815955 4815955 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 120 42 118 0 ENST00000219478.6:c.25C>T p.Pro9Ser p.P9S ENST00000219478 9 Ccc/Tcc 0 -ZNF500 UCSF GRCh37 16 4815944 4815944 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 119 58 112 0 ENST00000219478.6:c.36C>T p.Thr12= p.T12= ENST00000219478 12 acC/acT 0 -ZNF513 UCSF GRCh37 2 27600534 27600534 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0011 P18_Rec Untested WXS Illumina HiSeq 25 65 162 0 ENST00000323703.6:c.1504C>T p.Pro502Ser p.P502S ENST00000323703 NM_144631.5 502 Cct/Tct 0 -ZNF516 UCSF GRCh37 18 74091160 74091160 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 37 27 65 0 ENST00000443185.2:c.2910C>T p.Ala970= p.A970= ENST00000443185 NM_014643.3 970 gcC/gcT 0 -ZNF517 UCSF GRCh37 8 146032905 146032905 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 14 4 26 0 ENST00000359971.3:c.604G>A p.Ala202Thr p.A202T ENST00000359971 NM_213605.2 202 Gcc/Acc 0 -ZNF518B UCSF GRCh37 4 10445190 10445190 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 163 139 254 0 ENST00000326756.3:c.2763G>A p.Arg921= p.R921= ENST00000326756 NM_053042.2 921 agG/agA 0 -ZNF534 UCSF GRCh37 19 52942513 52942513 + synonymous_variant Silent SNP T T C NOVEL P18_Rec Untested WXS Illumina HiSeq 176 132 271 0 ENST00000332323.6:c.1839T>C p.His613= p.H613= ENST00000332323 NM_001143939.1 613 caT/caC 0 -ZNF540 UCSF GRCh37 19 38090612 38090612 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 123 90 182 0 ENST00000592533.1:c.95G>A p.Arg32Lys p.R32K ENST00000592533 NM_152606.4 32 aGa/aAa 0 -ZNF570 UCSF GRCh37 19 37975761 37975761 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec somatic WXS Sanger Illumina HiSeq 156 119 238 0 ENST00000330173.1:c.1237C>T p.Pro413Ser p.P413S ENST00000330173 NM_144694.1 413 Cct/Tct 0 -ZNF570 UCSF GRCh37 19 37975724 37975724 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 149 106 191 0 ENST00000330173.1:c.1200C>T p.His400= p.H400= ENST00000330173 NM_144694.1 400 caC/caT 0 -ZNF586 UCSF GRCh37 19 58290725 58290725 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 145 80 246 0 ENST00000396154.2:c.770C>T p.Thr257Ile p.T257I ENST00000396154 NM_017652.3 257 aCa/aTa 0 -ZNF592 UCSF GRCh37 15 85326026 85326026 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 129 104 226 0 ENST00000299927.3:c.120C>T p.Pro40= p.P40= ENST00000299927 40 ccC/ccT 0 -ZNF608 UCSF GRCh37 5 124079985 124079985 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 99 62 144 0 ENST00000306315.5:c.698G>A p.Gly233Glu p.G233E ENST00000306315 NM_020747.2 233 gGg/gAg 0 -ZNF621 UCSF GRCh37 3 40571750 40571750 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 75 57 107 0 ENST00000339296.5:c.202G>A p.Glu68Lys p.E68K ENST00000339296 NM_198484.3 68 Gaa/Aaa 0 -ZNF628 UCSF GRCh37 19 55995469 55995469 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 13 15 15 0 ENST00000598519.1:c.2909C>T p.Pro970Leu p.P970L ENST00000598519 NM_033113.2 970 cCc/cTc 0 -ZNF646 UCSF GRCh37 16 31088860 31088860 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 34 15 43 0 ENST00000300850.5:c.1215C>T p.Leu405= p.L405= ENST00000300850 NM_014699.3 405 ctC/ctT 0 -ZNF648 UCSF GRCh37 1 182026975 182026975 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 56 159 0 ENST00000339948.3:c.171C>T p.Gly57= p.G57= ENST00000339948 NM_001009992.1 57 ggC/ggT 0 -ZNF672 UCSF GRCh37 1 249142351 249142351 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 12 24 32 0 ENST00000306562.3:c.878G>A p.Gly293Glu p.G293E ENST00000306562 NM_024836.1 293 gGg/gAg 0 -ZNF691 UCSF GRCh37 1 43315411 43315411 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 135 103 201 0 ENST00000397044.3:c.82G>A p.Glu28Lys p.E28K ENST00000397044 28 Gag/Aag 0 -ZNF77 UCSF GRCh37 19 2936675 2936675 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 78 66 113 0 ENST00000314531.4:c.158G>A p.Gly53Glu p.G53E ENST00000314531 NM_021217.2 53 gGa/gAa 0 -ZNF778 UCSF GRCh37 16 89294114 89294114 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 158 124 264 0 ENST00000433976.2:c.1334G>A p.Gly445Glu p.G445E ENST00000433976 NM_001201407.1 445 gGa/gAa 0 -ZNF800 UCSF GRCh37 7 127014204 127014204 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 172 108 250 0 ENST00000393313.1:c.1186G>A p.Gly396Ser p.G396S ENST00000393313 396 Ggc/Agc 0 -ZNF804B UCSF GRCh37 7 88964016 88964016 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 107 76 190 0 ENST00000333190.4:c.1720G>A p.Glu574Lys p.E574K ENST00000333190 NM_181646.2 574 Gaa/Aaa 0 -ZNF836 UCSF GRCh37 19 52660411 52660411 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 227 163 330 0 ENST00000322146.8:c.525C>T p.Ser175= p.S175= ENST00000322146 NM_001102657.1 175 tcC/tcT 0 -ZNF846 UCSF GRCh37 19 9868417 9868417 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 114 87 167 0 ENST00000397902.2:c.1336G>A p.Gly446Arg p.G446R ENST00000397902 NM_001077624.1 446 Gga/Aga 0 -ZNF846 UCSF GRCh37 19 9868865 9868865 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 117 97 197 0 ENST00000397902.2:c.888C>T p.Tyr296= p.Y296= ENST00000397902 NM_001077624.1 296 taC/taT 0 -ZNF862 UCSF GRCh37 7 149558596 149558596 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 33 24 58 0 ENST00000223210.4:c.2347G>A p.Asp783Asn p.D783N ENST00000223210 NM_001099220.1 783 Gat/Aat 0 -ZNHIT3 UCSF GRCh37 17 34842624 34842624 + synonymous_variant Silent SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 65 83 0 ENST00000225410.4:c.81G>A p.Val27= p.V27= ENST00000225410 NM_004773.3 27 gtG/gtA 0 -ZPBP UCSF GRCh37 7 49977191 49977191 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 125 78 171 0 ENST00000046087.2:c.989C>T p.Pro330Leu p.P330L ENST00000046087 NM_007009.2 330 cCc/cTc 0 -ZSCAN10 UCSF GRCh37 16 3142133 3142133 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 84 28 91 0 ENST00000252463.2:c.416C>T p.Pro139Leu p.P139L ENST00000252463 NM_032805.1 139 cCg/cTg 0 -ZSCAN12 UCSF GRCh37 6 28358508 28358508 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 101 75 184 0 ENST00000361028.1:c.1559C>T p.Thr520Ile p.T520I ENST00000361028 520 aCt/aTt 0 -ZSCAN2 UCSF GRCh37 15 85164774 85164774 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 58 69 135 0 ENST00000448803.2:c.1348G>A p.Val450Met p.V450M ENST00000448803 NM_181877.3 450 Gtg/Atg 0 -ZSWIM1 UCSF GRCh37 20 44512582 44512582 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 60 57 92 0 ENST00000372523.1:c.1351G>A p.Gly451Ser p.G451S ENST00000372523 NM_080603.4 451 Ggt/Agt 0 -ZSWIM2 UCSF GRCh37 2 187702039 187702039 + missense_variant Missense_Mutation SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 145 89 204 0 ENST00000295131.2:c.737G>A p.Cys246Tyr p.C246Y ENST00000295131 NM_182521.2 246 tGt/tAt 0 -ZWILCH UCSF GRCh37 15 66807978 66807978 + missense_variant Missense_Mutation SNP G G A NOVEL P18_Rec Untested WXS Illumina HiSeq 78 57 134 0 ENST00000307897.5:c.316G>A p.Ala106Thr p.A106T ENST00000307897 NM_017975.3 106 Gca/Aca 0 -ZYG11B UCSF GRCh37 1 53250719 53250719 + synonymous_variant Silent SNP C C T NOVEL P18_Rec Untested WXS Illumina HiSeq 80 49 111 0 ENST00000294353.6:c.1263C>T p.His421= p.H421= ENST00000294353 NM_024646.2 421 caC/caT 0 -ATRX UCSF GRCh37 X 76845402 76845403 + frameshift_variant Frame_Shift_Del DEL AA AA - NOVEL P21_Pri Untested WXS Illumina HiSeq 36 0 ENST00000373344.5:c.6118_6119del p.Phe2040GlnfsTer11 p.F2040Qfs*11 ENST00000373344 NM_000489.3 2040 TTc/c 0 -CAPN12 UCSF GRCh37 19 39228950 39228950 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 10 8 53 0 ENST00000328867.4:c.928G>A p.Asp310Asn p.D310N ENST00000328867 NM_144691.3 310 Gat/Aat 0 -CDC16 UCSF GRCh37 13 115002355 115002355 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 74 58 95 0 ENST00000360383.3:c.185C>T p.Ser62Leu p.S62L ENST00000360383 NM_001078645.1 62 tCa/tTa 0 -CDKN1B UCSF GRCh37 12 12870849 12870849 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P21_Pri somatic WXS Sanger Illumina HiSeq 186 0 ENST00000228872.4:c.78del p.Ser27ArgfsTer15 p.S27Rfs*15 ENST00000228872 NM_004064.3 26 Ccc/cc 0 -CENPE UCSF GRCh37 4 104066758 104066758 + synonymous_variant Silent SNP C C G NOVEL P21_Pri Untested WXS Illumina HiSeq 134 17 239 0 ENST00000265148.3:c.4494G>C p.Val1498= p.V1498= ENST00000265148 NM_001813.2 1498 gtG/gtC 0 -COL6A3 UCSF GRCh37 2 238289888 238289888 + synonymous_variant Silent SNP G G A NOVEL P21_Pri Untested WXS Illumina HiSeq 130 32 303 0 ENST00000295550.4:c.1567C>T p.Leu523= p.L523= ENST00000295550 NM_004369.3 523 Ctg/Ttg 0 -DENND2D UCSF GRCh37 1 111740573 111740573 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 40 20 48 0 ENST00000357640.4:c.395G>A p.Ser132Asn p.S132N ENST00000357640 NM_024901.4 132 aGc/aAc 0 -HIST1H2AH UCSF GRCh37 6 27115070 27115070 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Pri Untested WXS Illumina HiSeq 100 56 280 0 ENST00000377459.1:c.163G>C p.Val55Leu p.V55L ENST00000377459 NM_080596.2 55 Gtg/Ctg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 55 41 126 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -INPPL1 UCSF GRCh37 11 71948227 71948227 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Pri Untested WXS Illumina HiSeq 96 56 223 0 ENST00000298229.2:c.2939G>C p.Ser980Thr p.S980T ENST00000298229 NM_001567.3 980 aGc/aCc 0 -KDM5A UCSF GRCh37 12 416215 416215 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Pri Untested WXS Illumina HiSeq 275 110 339 0 ENST00000399788.2:c.3971T>C p.Val1324Ala p.V1324A ENST00000399788 NM_001042603.1 1324 gTg/gCg 0 -KIAA0020 UCSF GRCh37 9 2837245 2837245 + missense_variant Missense_Mutation SNP T T A NOVEL P21_Pri Untested WXS Illumina HiSeq 223 235 542 0 ENST00000397885.2:c.239A>T p.Asn80Ile p.N80I ENST00000397885 NM_014878.4 80 aAc/aTc 0 -KIF6 UCSF GRCh37 6 39563952 39563952 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Pri Untested WXS Illumina HiSeq 61 30 98 0 ENST00000287152.7:c.724C>T p.Arg242Ter p.R242* ENST00000287152 NM_145027.4 242 Cga/Tga 0 -LTB4R UCSF GRCh37 14 24785606 24785606 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 15 6 21 0 ENST00000396789.4:c.749C>T p.Ala250Val p.A250V ENST00000396789 NM_181657.3 250 gCc/gTc 0 -NBPF10 UCSF GRCh37 1 145327548 145327548 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Pri Untested WXS Illumina HiSeq 47 11 17 0 ENST00000342960.5:c.4105A>G p.Asn1369Asp p.N1369D ENST00000342960 NM_001039703.5 1369 Aat/Gat 0 -NECAP2 UCSF GRCh37 1 16767274 16767274 + synonymous_variant Silent SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 45 8 103 0 ENST00000443980.2:c.18C>T p.Tyr6= p.Y6= ENST00000443980 NM_001145277.1 6 taC/taT 0 -NPY UCSF GRCh37 7 24324899 24324899 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Pri Untested WXS Illumina HiSeq 39 19 106 0 ENST00000407573.1:c.40C>G p.Leu14Val p.L14V ENST00000407573 14 Ctc/Gtc 0 -PIK3AP1 UCSF GRCh37 10 98405415 98405415 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Pri somatic WXS Sanger Illumina HiSeq 67 16 144 0 ENST00000339364.5:c.1190C>T p.Thr397Met p.T397M ENST00000339364 NM_152309.2 397 aCg/aTg 0 -RAP1GAP2 UCSF GRCh37 17 2908700 2908700 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Pri Untested WXS Illumina HiSeq 216 115 544 0 ENST00000254695.8:c.1238G>T p.Gly413Val p.G413V ENST00000254695 NM_015085.4 413 gGt/gTt 0 -SCAF4 UCSF GRCh37 21 33058004 33058004 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Pri Untested WXS Illumina HiSeq 34 23 62 0 ENST00000286835.7:c.2086C>T p.Gln696Ter p.Q696* ENST00000286835 NM_020706.2 696 Cag/Tag 0 -SPTBN4 UCSF GRCh37 19 41019235 41019235 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Pri Untested WXS Illumina HiSeq 14 5 24 0 ENST00000352632.3:c.2539C>A p.Pro847Thr p.P847T ENST00000352632 847 Cca/Aca 0 -TBX2 UCSF GRCh37 17 59479224 59479224 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Pri Untested WXS Illumina HiSeq 52 8 116 0 ENST00000240328.3:c.575G>T p.Ser192Ile p.S192I ENST00000240328 NM_005994.3 192 aGc/aTc 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Pri somatic WXS Sanger Illumina HiSeq 52 40 129 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TP53 UCSF GRCh37 17 7578388 7578388 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Pri Untested WXS Illumina HiSeq 46 31 127 0 ENST00000269305.4:c.542G>C p.Arg181Pro p.R181P ENST00000269305 NM_001126112.2 181 cGc/cCc 0 -TRDN UCSF GRCh37 6 123824996 123824996 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P21_Pri Untested WXS Illumina HiSeq 29 0 ENST00000398178.3:c.661del p.Glu221LysfsTer2 p.E221Kfs*2 ENST00000398178 NM_006073.3 221 Gaa/aa 0 -UNC5B UCSF GRCh37 10 73051501 73051501 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Pri Untested WXS Illumina HiSeq 32 7 88 0 ENST00000335350.6:c.1607G>C p.Gly536Ala p.G536A ENST00000335350 NM_170744.4 536 gGc/gCc 0 -UNC5B UCSF GRCh37 10 73051475 73051475 + synonymous_variant Silent SNP C C T NOVEL P21_Pri Untested WXS Illumina HiSeq 51 9 104 0 ENST00000335350.6:c.1581C>T p.Ala527= p.A527= ENST00000335350 NM_170744.4 527 gcC/gcT 0 -A2ML1 UCSF GRCh37 12 9001452 9001452 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 368 58 422 0 ENST00000299698.7:c.1970G>A p.Arg657His p.R657H ENST00000299698 NM_144670.4 657 cGt/cAt 0 -AADACL3 UCSF GRCh37 1 12785370 12785370 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 241 63 313 0 ENST00000359318.5:c.460G>A p.Asp154Asn p.D154N ENST00000359318 NM_001103170.1 154 Gat/Aat 0 -ABCB4 UCSF GRCh37 7 87068997 87068997 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 101 39 179 0 ENST00000265723.4:c.1717G>T p.Ala573Ser p.A573S ENST00000265723 NM_000443.3 573 Gca/Tca 0 -ABCC1 UCSF GRCh37 16 16184294 16184294 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 48 11 72 0 ENST00000399410.3:c.2493C>T p.Tyr831= p.Y831= ENST00000399410 NM_004996.3 831 taC/taT 0 -ABR UCSF GRCh37 17 995003 995003 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 135 26 188 1 ENST00000302538.5:c.433G>A p.Asp145Asn p.D145N ENST00000302538 NM_021962.3 145 Gac/Aac 0 -ABR UCSF GRCh37 17 914089 914089 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 117 28 181 0 ENST00000302538.5:c.2116C>T p.Leu706= p.L706= ENST00000302538 NM_021962.3 706 Ctg/Ttg 0 -ACACA UCSF GRCh37 17 35598915 35598915 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 109 22 118 0 ENST00000353139.5:c.2986G>A p.Glu996Lys p.E996K ENST00000353139 NM_198834.1 996 Gaa/Aaa 0 -ACBD4 UCSF GRCh37 17 43214454 43214454 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 74 17 110 0 ENST00000431281.1:c.363G>A p.Gln121= p.Q121= ENST00000431281 NM_001135704.1 121 caG/caA 0 -ACE UCSF GRCh37 17 61574338 61574338 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 34 6 49 0 ENST00000290866.4:c.3683C>T p.Pro1228Leu p.P1228L ENST00000290866 NM_000789.3 1228 cCg/cTg 0 -ACO1 UCSF GRCh37 9 32431790 32431790 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 26 127 0 ENST00000309951.6:c.1800G>A p.Glu600= p.E600= ENST00000309951 NM_002197.2 600 gaG/gaA 0 -ACRC UCSF GRCh37 X 70832774 70832774 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 43 7 46 0 ENST00000373695.1:c.2018C>T p.Ser673Phe p.S673F ENST00000373695 673 tCt/tTt 0 -ACTL7B UCSF GRCh37 9 111617807 111617807 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 84 55 151 0 ENST00000374667.3:c.404G>A p.Arg135His p.R135H ENST00000374667 NM_006686.3 135 cGc/cAc 0 -ACTR1A UCSF GRCh37 10 104241629 104241629 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 126 39 258 0 ENST00000369905.4:c.952G>A p.Val318Met p.V318M ENST00000369905 NM_005736.3 318 Gtg/Atg 0 -ACTR8 UCSF GRCh37 3 53916017 53916017 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 14 6 34 0 ENST00000335754.3:c.112T>C p.Ser38Pro p.S38P ENST00000335754 NM_022899.4 38 Tcg/Ccg 0 -ADAMTS15 UCSF GRCh37 11 130318956 130318956 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 27 19 93 0 ENST00000299164.2:c.88C>T p.Arg30Ter p.R30* ENST00000299164 NM_139055.2 30 Cga/Tga 0 -ADAP1 UCSF GRCh37 7 938844 938844 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 78 15 142 0 ENST00000265846.5:c.922G>T p.Val308Leu p.V308L ENST00000265846 NM_006869.2 308 Gtg/Ttg 0 -ADCY9 UCSF GRCh37 16 4016763 4016763 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 280 79 526 0 ENST00000294016.3:c.3075G>A p.Arg1025= p.R1025= ENST00000294016 NM_001116.3 1025 cgG/cgA 0 -ADNP UCSF GRCh37 20 49509195 49509195 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 194 60 286 0 ENST00000396029.3:c.2056C>T p.His686Tyr p.H686Y ENST00000396029 NM_015339.2 686 Cac/Tac 0 -AGAP3 UCSF GRCh37 7 150839618 150839618 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 85 10 107 0 ENST00000397238.2:c.2170C>T p.Pro724Ser p.P724S ENST00000397238 NM_031946.5 724 Cct/Tct 0 -AGBL1 UCSF GRCh37 15 87531263 87531263 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 412 96 492 0 ENST00000441037.2:c.3129C>T p.Tyr1043= p.Y1043= ENST00000441037 NM_152336.2 1043 taC/taT 0 -AGBL3 UCSF GRCh37 7 134719029 134719029 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 121 37 195 0 ENST00000436302.2:c.687C>T p.Thr229= p.T229= ENST00000436302 NM_178563.3 229 acC/acT 0 -AGPAT5 UCSF GRCh37 8 6605321 6605321 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 114 30 123 0 ENST00000285518.6:c.717G>A p.Gly239= p.G239= ENST00000285518 NM_018361.3 239 ggG/ggA 0 -AGTR1 UCSF GRCh37 3 148458912 148458912 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 117 37 134 0 ENST00000542281.1:c.90G>A p.Met30Ile p.M30I ENST00000542281 NM_031850.3 30 atG/atA 0 -AHNAK UCSF GRCh37 11 62300649 62300649 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 125 19 164 0 ENST00000378024.4:c.1240G>A p.Glu414Lys p.E414K ENST00000378024 NM_001620.2 414 Gaa/Aaa 0 -AHNAK2 UCSF GRCh37 14 105414940 105414940 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 400 153 852 0 ENST00000333244.5:c.6848G>A p.Ser2283Asn p.S2283N ENST00000333244 NM_138420.2 2283 aGc/aAc 0 -AHNAK2 UCSF GRCh37 14 105418590 105418590 + synonymous_variant Silent SNP G G C NOVEL P21_Rec Untested WXS Illumina HiSeq 354 125 656 0 ENST00000333244.5:c.3198C>G p.Leu1066= p.L1066= ENST00000333244 NM_138420.2 1066 ctC/ctG 0 -AKAP13 UCSF GRCh37 15 86284312 86284312 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 30 12 71 0 ENST00000361243.2:c.7656C>T p.Asp2552= p.D2552= ENST00000361243 NM_006738.5 2552 gaC/gaT 0 -AKAP6 UCSF GRCh37 14 33046434 33046434 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 120 23 151 0 ENST00000280979.4:c.2455C>T p.Leu819= p.L819= ENST00000280979 NM_004274.4 819 Ctg/Ttg 0 -AKAP9 UCSF GRCh37 7 91631287 91631287 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 78 11 113 0 ENST00000356239.3:c.2056G>A p.Asp686Asn p.D686N ENST00000356239 NM_147185.2 686 Gac/Aac 0 -AKT2 UCSF GRCh37 19 40747844 40747844 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 48 17 84 0 ENST00000392038.2:c.573+1G>A p.X191_splice ENST00000392038 NM_001626.4 0 -ALDH3B1 UCSF GRCh37 11 67790122 67790122 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 64 11 95 0 ENST00000539229.1:c.1003G>A p.Gly335Arg p.G335R ENST00000539229 NM_001161473.1 335 Ggg/Agg 0 -ALDH6A1 UCSF GRCh37 14 74539242 74539242 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 88 30 154 0 ENST00000553458.1:c.184C>T p.Pro62Ser p.P62S ENST00000553458 NM_001278593.1 62 Cca/Tca 0 -ALG12 UCSF GRCh37 22 50307094 50307094 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 160 39 196 0 ENST00000330817.6:c.234C>T p.Ser78= p.S78= ENST00000330817 NM_024105.3 78 tcC/tcT 0 -ALG13 UCSF GRCh37 X 111003111 111003111 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 100 80 172 1 ENST00000394780.3:c.3298C>T p.Pro1100Ser p.P1100S ENST00000394780 NM_001257231.1 1100 Cca/Tca 0 -ALK UCSF GRCh37 2 29430102 29430102 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 54 22 85 1 ENST00000389048.3:c.3873G>A p.Leu1291= p.L1291= ENST00000389048 NM_004304.4 1291 ctG/ctA 0 -ALMS1 UCSF GRCh37 2 73786249 73786249 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 68 12 112 0 ENST00000264448.6:c.10361C>T p.Ser3454Phe p.S3454F ENST00000264448 NM_015120.4 3454 tCc/tTc 0 -ALOX15 UCSF GRCh37 17 4542834 4542834 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 54 12 77 1 ENST00000570836.1:c.228G>A p.Trp76Ter p.W76* ENST00000570836 76 tgG/tgA 0 -ALOX5 UCSF GRCh37 10 45907762 45907762 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 91 23 138 0 ENST00000374391.2:c.554+1G>A p.X185_splice ENST00000374391 NM_000698.3 0 -ALS2 UCSF GRCh37 2 202589068 202589068 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 141 43 248 1 ENST00000264276.6:c.3462G>A p.Gln1154= p.Q1154= ENST00000264276 NM_020919.3 1154 caG/caA 0 -ALS2 UCSF GRCh37 2 202598137 202598137 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 40 18 49 0 ENST00000264276.6:c.2442G>A p.Glu814= p.E814= ENST00000264276 NM_020919.3 814 gaG/gaA 0 -AMOTL2 UCSF GRCh37 3 134078188 134078188 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 78 13 122 0 ENST00000249883.5:c.2041G>A p.Gly681Ser p.G681S ENST00000249883 NM_016201.3 681 Ggc/Agc 0 -ANGPTL1 UCSF GRCh37 1 178822772 178822772 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 155 41 179 0 ENST00000234816.2:c.974C>T p.Thr325Ile p.T325I ENST00000234816 NM_004673.3 325 aCa/aTa 0 -ANK1 UCSF GRCh37 8 41550641 41550641 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 96 31 120 0 ENST00000265709.8:c.3734C>T p.Thr1245Ile p.T1245I ENST00000265709 NM_001142446.1 1245 aCc/aTc 0 -AP2A1 UCSF GRCh37 19 50304848 50304848 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 82 20 140 0 ENST00000359032.5:c.1755C>T p.Thr585= p.T585= ENST00000359032 NM_014203.2 585 acC/acT 0 -AP2B1 UCSF GRCh37 17 33984689 33984689 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 97 30 139 0 ENST00000312678.8:c.1868C>T p.Ser623Phe p.S623F ENST00000312678 NM_001030006.1 623 tCt/tTt 0 -AP3B1 UCSF GRCh37 5 77396850 77396850 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 22 3 19 0 ENST00000255194.6:c.2398-1G>A p.X800_splice ENST00000255194 0 -APC UCSF GRCh37 5 112174811 112174811 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 164 49 209 0 ENST00000257430.4:c.3520G>A p.Asp1174Asn p.D1174N ENST00000257430 NM_000038.5 1174 Gat/Aat 0 -ARHGAP15 UCSF GRCh37 2 144314015 144314015 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 159 43 262 0 ENST00000295095.6:c.964C>T p.Leu322= p.L322= ENST00000295095 NM_018460.3 322 Ctg/Ttg 0 -ARHGAP31 UCSF GRCh37 3 119134420 119134420 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 78 25 111 0 ENST00000264245.4:c.3644C>T p.Pro1215Leu p.P1215L ENST00000264245 NM_020754.2 1215 cCc/cTc 0 -ARHGAP32 UCSF GRCh37 11 128840445 128840445 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 107 26 157 0 ENST00000310343.9:c.4621G>A p.Gly1541Arg p.G1541R ENST00000310343 NM_001142685.1 1541 Gga/Aga 0 -ARHGEF2 UCSF GRCh37 1 155920170 155920170 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 101 33 160 1 ENST00000361247.4:c.2807G>A p.Arg936Gln p.R936Q ENST00000361247 NM_001162384.1 936 cGg/cAg 0 -ARL13A UCSF GRCh37 X 100240728 100240728 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 159 114 345 0 ENST00000450049.2:c.203C>T p.Ser68Phe p.S68F ENST00000450049 NM_001162491.1 68 tCc/tTc 0 -ARMC5 UCSF GRCh37 16 31478036 31478036 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 16 3 22 0 ENST00000268314.4:c.2634C>T p.Pro878= p.P878= ENST00000268314 NM_001105247.1 878 ccC/ccT 0 -ARNT UCSF GRCh37 1 150788827 150788827 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 50 19 62 0 ENST00000358595.5:c.1858C>T p.Gln620Ter p.Q620* ENST00000358595 NM_178427.2 620 Cag/Tag 0 -ARPM1 UCSF GRCh37 3 169485464 169485464 + missense_variant Missense_Mutation SNP G G A snp132_rs55656133 P21_Rec Untested WXS Illumina HiSeq 237 56 287 1 ENST00000330368.2:c.875C>T p.Ser292Phe p.S292F ENST00000330368 NM_032487.4 292 tCc/tTc 0 -ASCC3 UCSF GRCh37 6 101247327 101247327 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 41 17 106 0 ENST00000369162.2:c.1249G>A p.Ala417Thr p.A417T ENST00000369162 NM_006828.2 417 Gca/Aca 0 -ASXL1 UCSF GRCh37 20 31024066 31024066 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 153 33 212 1 ENST00000375687.4:c.3551C>T p.Thr1184Ile p.T1184I ENST00000375687 NM_015338.5 1184 aCa/aTa 0 -ASXL1 UCSF GRCh37 20 31023784 31023784 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 224 77 359 0 ENST00000375687.4:c.3269G>A p.Arg1090Lys p.R1090K ENST00000375687 NM_015338.5 1090 aGa/aAa 0 -ATG4A UCSF GRCh37 X 107381120 107381120 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 27 183 275 0 ENST00000372232.3:c.634G>A p.Gly212Ser p.G212S ENST00000372232 NM_052936.3 212 Ggc/Agc 0 -ATP13A4 UCSF GRCh37 3 193156272 193156272 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 46 30 122 0 ENST00000342695.4:c.2664C>T p.His888= p.H888= ENST00000342695 NM_032279.2 888 caC/caT 0 -ATP1A2 UCSF GRCh37 1 160105700 160105700 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 221 33 268 1 ENST00000361216.3:c.2356C>T p.Pro786Ser p.P786S ENST00000361216 NM_000702.3 786 Ccc/Tcc 0 -ATP5L UCSF GRCh37 11 118279715 118279715 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 15 9 35 0 ENST00000300688.3:c.214G>A p.Glu72Lys p.E72K ENST00000300688 NM_006476.4 72 Gaa/Aaa 0 -ATP5S UCSF GRCh37 14 50789230 50789230 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 97 12 167 0 ENST00000311459.7:c.154G>A p.Val52Met p.V52M ENST00000311459 NM_001003803.2 52 Gtg/Atg 0 -ATP6V1B1 UCSF GRCh37 2 71187101 71187101 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 71 32 159 0 ENST00000234396.4:c.478C>T p.Pro160Ser p.P160S ENST00000234396 NM_001692.3 160 Ccc/Tcc 0 -ATRX UCSF GRCh37 X 76845402 76845403 + frameshift_variant Frame_Shift_Del DEL AA AA - NOVEL P21_Rec Untested WXS Illumina HiSeq 23 0 ENST00000373344.5:c.6118_6119del p.Phe2040GlnfsTer11 p.F2040Qfs*11 ENST00000373344 NM_000489.3 2040 TTc/c 0 -B4GALNT1 UCSF GRCh37 12 58024853 58024853 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 131 55 285 0 ENST00000341156.4:c.400G>A p.Asp134Asn p.D134N ENST00000341156 NM_001478.4 134 Gac/Aac 0 -NCR3LG1 UCSF GRCh37 11 17388734 17388734 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 94 57 286 1 ENST00000338965.4:c.600C>T p.Ile200= p.I200= ENST00000338965 NM_001202439.1 200 atC/atT 0 -BAAT UCSF GRCh37 9 104130406 104130406 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 52 20 78 0 ENST00000259407.2:c.665C>T p.Pro222Leu p.P222L ENST00000259407 NM_001127610.1 222 cCa/cTa 0 -BAG3 UCSF GRCh37 10 121429613 121429613 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 42 27 165 0 ENST00000369085.3:c.431C>T p.Thr144Ile p.T144I ENST00000369085 NM_004281.3 144 aCc/aTc 0 -BAHCC1 UCSF GRCh37 17 79410157 79410157 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 30 9 61 0 ENST00000307745.7:c.1782G>A p.Met594Ile p.M594I ENST00000307745 594 atG/atA 0 -BARD1 UCSF GRCh37 2 215645709 215645709 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 103 28 196 0 ENST00000260947.4:c.889G>A p.Val297Ile p.V297I ENST00000260947 NM_000465.2 297 Gta/Ata 0 -BARD1 UCSF GRCh37 2 215593469 215593469 + synonymous_variant Silent SNP G G A snp132_rs13389324 P21_Rec Untested WXS Illumina HiSeq 78 27 133 0 ENST00000260947.4:c.2265C>T p.Val755= p.V755= ENST00000260947 NM_000465.2 755 gtC/gtT 0 -BATF2 UCSF GRCh37 11 64756758 64756758 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 65 16 85 0 ENST00000301887.4:c.668C>T p.Pro223Leu p.P223L ENST00000301887 NM_138456.3 223 cCc/cTc 0 -BBS1 UCSF GRCh37 11 66283345 66283345 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 88 18 120 0 ENST00000318312.7:c.532G>A p.Glu178Lys p.E178K ENST00000318312 NM_024649.4 178 Gag/Aag 0 -BCR UCSF GRCh37 22 23523778 23523778 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 96 28 158 0 ENST00000305877.8:c.631G>A p.Glu211Lys p.E211K ENST00000305877 NM_004327.3 211 Gag/Aag 0 -BDH2 UCSF GRCh37 4 104016418 104016418 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 57 37 120 0 ENST00000296424.4:c.93C>T p.Ala31= p.A31= ENST00000296424 NM_020139.3 31 gcC/gcT 0 -BICC1 UCSF GRCh37 10 60556125 60556125 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 108 29 191 0 ENST00000373886.3:c.1205G>A p.Arg402Gln p.R402Q ENST00000373886 NM_001080512.1 402 cGa/cAa 0 -BIRC6 UCSF GRCh37 2 32656086 32656086 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 147 49 324 0 ENST00000421745.2:c.3176C>T p.Pro1059Leu p.P1059L ENST00000421745 NM_016252.3 1059 cCt/cTt 0 -BMI1 UCSF GRCh37 10 22615405 22615405 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 257 53 231 0 ENST00000376663.3:c.27C>T p.Ile9= p.I9= ENST00000376663 NM_005180.8 9 atC/atT 0 -BOD1L UCSF GRCh37 4 13605438 13605438 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 404 107 475 1 ENST00000040738.5:c.3086G>A p.Ser1029Asn p.S1029N ENST00000040738 NM_148894.2 1029 aGt/aAt 0 -BPNT1 UCSF GRCh37 1 220236275 220236275 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 107 26 125 0 ENST00000469520.2:c.496G>A p.Gly166Arg p.G166R ENST00000469520 166 Ggg/Agg 0 -BPTF UCSF GRCh37 17 65850839 65850839 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 114 18 112 0 ENST00000306378.6:c.1397G>A p.Ser466Asn p.S466N ENST00000306378 NM_182641.3 466 aGt/aAt 0 -BRCA2 UCSF GRCh37 13 32907452 32907452 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 35 4 78 0 ENST00000380152.3:c.1837C>T p.Leu613= p.L613= ENST00000380152 613 Cta/Tta 0 -BRIP1 UCSF GRCh37 17 59871087 59871087 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 68 22 91 0 ENST00000259008.2:c.1344G>A p.Trp448Ter p.W448* ENST00000259008 NM_032043.2 448 tgG/tgA 0 -BTN2A1 UCSF GRCh37 6 26468761 26468761 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 485 74 352 1 ENST00000312541.5:c.1568C>T p.Thr523Ile p.T523I ENST00000312541 NM_007049.4 523 aCc/aTc 0 -BTNL3 UCSF GRCh37 5 180419994 180419994 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 77 61 272 0 ENST00000342868.6:c.231G>A p.Gln77= p.Q77= ENST00000342868 NM_197975.2 77 caG/caA 0 -BTNL8 UCSF GRCh37 5 180335635 180335635 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 50 26 187 0 ENST00000340184.4:c.99G>A p.Gly33= p.G33= ENST00000340184 NM_001040462.2 33 ggG/ggA 0 -BUB3 UCSF GRCh37 10 124919988 124919988 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 60 45 212 0 ENST00000368865.4:c.483G>A p.Val161= p.V161= ENST00000368865 NM_004725.3 161 gtG/gtA 0 -C11orf30 UCSF GRCh37 11 76207340 76207340 + missense_variant Missense_Mutation SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 171 61 229 0 ENST00000529032.1:c.1190T>C p.Leu397Pro p.L397P ENST00000529032 397 cTt/cCt 0 -C11orf91 UCSF GRCh37 11 33719981 33719981 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 29 21 101 0 ENST00000379011.4:c.576C>T p.Leu192= p.L192= ENST00000379011 NM_001166692.1 192 ctC/ctT 0 -C12orf4 UCSF GRCh37 12 4609359 4609359 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 149 21 121 0 ENST00000261250.3:c.1385C>T p.Thr462Ile p.T462I ENST00000261250 NM_020374.2 462 aCc/aTc 0 -C15orf43 UCSF GRCh37 15 45258369 45258369 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 29 10 30 0 ENST00000340827.3:c.362C>T p.Thr121Ile p.T121I ENST00000340827 NM_152448.2 121 aCa/aTa 0 -C17orf101 UCSF GRCh37 17 80373330 80373330 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 165 47 221 0 ENST00000329197.5:c.248G>A p.Gly83Glu p.G83E ENST00000329197 83 gGg/gAg 0 -FIRRM UCSF GRCh37 1 169819407 169819407 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 42 8 44 0 ENST00000286031.6:c.2165G>A p.Gly722Glu p.G722E ENST00000286031 NM_018186.2 722 gGa/gAa 0 -C1QC UCSF GRCh37 1 22974090 22974090 + synonymous_variant Silent SNP C C G NOVEL P21_Rec Untested WXS Illumina HiSeq 182 59 340 0 ENST00000374639.3:c.552C>G p.Arg184= p.R184= ENST00000374639 NM_001114101.1 184 cgC/cgG 0 -C20orf194 UCSF GRCh37 20 3236766 3236766 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 120 25 171 0 ENST00000252032.9:c.3147C>T p.Asp1049= p.D1049= ENST00000252032 NM_001009984.2 1049 gaC/gaT 0 -C2CD3 UCSF GRCh37 11 73785467 73785467 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 125 28 149 0 ENST00000313663.7:c.4782C>T p.Leu1594= p.L1594= ENST00000313663 NM_015531.4 1594 ctC/ctT 0 -C2orf18 UCSF GRCh37 2 26997143 26997143 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 82 19 138 0 ENST00000344420.5:c.102G>A p.Glu34= p.E34= ENST00000344420 NM_017877.3 34 gaG/gaA 0 -C3orf39 UCSF GRCh37 3 43122166 43122166 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 105 53 208 1 ENST00000344697.2:c.758C>A p.Pro253Gln p.P253Q ENST00000344697 NM_032806.5 253 cCg/cAg 0 -C3orf39 UCSF GRCh37 3 43121571 43121571 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 67 33 131 0 ENST00000344697.2:c.1353G>A p.Lys451= p.K451= ENST00000344697 NM_032806.5 451 aaG/aaA 0 -C6orf138 UCSF GRCh37 6 47847449 47847449 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 521 67 388 0 ENST00000339488.4:c.1131G>A p.Leu377= p.L377= ENST00000339488 NM_001013732.3 377 ttG/ttA 0 -C9orf172 UCSF GRCh37 9 139739679 139739679 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 27 10 33 0 ENST00000436881.1:c.813C>T p.Pro271= p.P271= ENST00000436881 NM_001080482.2 271 ccC/ccT 0 -C9orf84 UCSF GRCh37 9 114490030 114490030 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 161 33 146 0 ENST00000374287.3:c.1525G>A p.Glu509Lys p.E509K ENST00000374287 509 Gaa/Aaa 0 -C9orf96 UCSF GRCh37 9 136270002 136270002 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 98 28 166 0 ENST00000371957.3:c.1822C>T p.Pro608Ser p.P608S ENST00000371957 NM_153710.4 608 Ccg/Tcg 0 -CA7 UCSF GRCh37 16 66886645 66886645 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 67 10 98 0 ENST00000338437.2:c.547C>T p.Pro183Ser p.P183S ENST00000338437 NM_005182.2 183 Ccc/Tcc 0 -CAD UCSF GRCh37 2 27447343 27447343 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 110 17 152 0 ENST00000264705.4:c.1239C>T p.Asp413= p.D413= ENST00000264705 NM_004341.3 413 gaC/gaT 0 -CAMKK2 UCSF GRCh37 12 121711942 121711942 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 19 9 23 0 ENST00000324774.5:c.388C>T p.Pro130Ser p.P130S ENST00000324774 NM_006549.3 130 Ccc/Tcc 0 -CAP2 UCSF GRCh37 6 17551772 17551772 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 215 34 194 0 ENST00000229922.2:c.1287C>T p.Asp429= p.D429= ENST00000229922 NM_006366.2 429 gaC/gaT 0 -CAPN12 UCSF GRCh37 19 39228950 39228950 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 31 22 53 0 ENST00000328867.4:c.928G>A p.Asp310Asn p.D310N ENST00000328867 NM_144691.3 310 Gat/Aat 0 -CAPN9 UCSF GRCh37 1 230891097 230891097 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 86 20 118 0 ENST00000271971.2:c.228C>T p.Asn76= p.N76= ENST00000271971 NM_006615.2 76 aaC/aaT 0 -CARD6 UCSF GRCh37 5 40841605 40841605 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 107 39 144 0 ENST00000254691.5:c.121G>A p.Glu41Lys p.E41K ENST00000254691 NM_032587.3 41 Gag/Aag 0 -CASD1 UCSF GRCh37 7 94168278 94168278 + splice_acceptor_variant Splice_Site SNP G G A snp132_rs115186017 P21_Rec Untested WXS Illumina HiSeq 51 21 65 0 ENST00000297273.4:c.1267-1G>A p.X423_splice ENST00000297273 NM_022900.4 0 -CASKIN2 UCSF GRCh37 17 73499007 73499007 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 22 9 57 0 ENST00000321617.3:c.2148C>T p.Ala716= p.A716= ENST00000321617 NM_020753.4 716 gcC/gcT 0 -CASZ1 UCSF GRCh37 1 10720283 10720283 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 77 31 103 0 ENST00000377022.3:c.816C>T p.Thr272= p.T272= ENST00000377022 NM_001079843.2 272 acC/acT 0 -CAT UCSF GRCh37 11 34472578 34472578 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 116 63 275 0 ENST00000241052.4:c.282C>T p.Tyr94= p.Y94= ENST00000241052 NM_001752.3 94 taC/taT 0 -CBFA2T2 UCSF GRCh37 20 32199107 32199107 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 168 51 229 0 ENST00000346541.3:c.413G>A p.Gly138Glu p.G138E ENST00000346541 NM_005093.3 138 gGg/gAg 0 -CCDC108 UCSF GRCh37 2 219888018 219888018 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 17 6 45 0 ENST00000341552.5:c.2731C>T p.Leu911= p.L911= ENST00000341552 NM_194302.3 911 Ctg/Ttg 0 -CCDC132 UCSF GRCh37 7 92979301 92979301 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 16 117 0 ENST00000305866.5:c.2419G>A p.Glu807Lys p.E807K ENST00000305866 NM_017667.3 807 Gaa/Aaa 0 -CCDC135 UCSF GRCh37 16 57764849 57764849 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 106 31 159 0 ENST00000360716.3:c.2398C>T p.Gln800Ter p.Q800* ENST00000360716 800 Cag/Tag 0 -CCDC86 UCSF GRCh37 11 60609982 60609982 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 135 28 164 0 ENST00000227520.5:c.385C>T p.Gln129Ter p.Q129* ENST00000227520 NM_024098.3 129 Cag/Tag 0 -CCDC97 UCSF GRCh37 19 41825651 41825651 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 52 16 76 0 ENST00000269967.3:c.675C>T p.Leu225= p.L225= ENST00000269967 NM_052848.1 225 ctC/ctT 0 -CCMT-ND2 UCSF GRCh37 12 4385225 4385225 + splice_region_variant,non_coding_transcript_exon_variant Splice_Region SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 143 24 143 0 ENST00000539135.1:n.126G>A p.X42_splice ENST00000539135 0 -CCNJ UCSF GRCh37 10 97816568 97816568 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 82 40 141 0 ENST00000465148.2:c.391G>A p.Glu131Lys p.E131K ENST00000465148 131 Gaa/Aaa 0 -CCT8 UCSF GRCh37 21 30439053 30439053 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 106 20 114 0 ENST00000286788.4:c.608G>A p.Arg203Lys p.R203K ENST00000286788 NM_006585.2 203 aGa/aAa 0 -CD163L1 UCSF GRCh37 12 7559158 7559158 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 251 61 322 0 ENST00000313599.3:c.1057C>T p.His353Tyr p.H353Y ENST00000313599 353 Cat/Tat 0 -CD1B UCSF GRCh37 1 158299756 158299756 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.006,1000g2011may_all_0.01772,snp132_rs62642467 P21_Rec Untested WXS Illumina HiSeq 354 95 446 0 ENST00000368168.3:c.493C>T p.Leu165= p.L165= ENST00000368168 NM_001764.2 165 Cta/Tta 0 -CD276 UCSF GRCh37 15 73995123 73995123 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 31 23 66 0 ENST00000318443.5:c.429G>A p.Ser143= p.S143= ENST00000318443 NM_001024736.1 143 tcG/tcA 0 -CDAN1 UCSF GRCh37 15 43023168 43023168 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 160 48 222 0 ENST00000356231.3:c.1962C>T p.Pro654= p.P654= ENST00000356231 NM_138477.2 654 ccC/ccT 0 -CDC16 UCSF GRCh37 13 115002355 115002355 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 42 18 95 0 ENST00000360383.3:c.185C>T p.Ser62Leu p.S62L ENST00000360383 NM_001078645.1 62 tCa/tTa 0 -CDC40 UCSF GRCh37 6 110541060 110541060 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 33 37 158 0 ENST00000368932.1:c.1328G>A p.Arg443Lys p.R443K ENST00000368932 443 aGa/aAa 0 -CDC42EP1 UCSF GRCh37 22 37962634 37962634 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 76 21 106 0 ENST00000249014.4:c.278G>A p.Gly93Glu p.G93E ENST00000249014 NM_152243.2 93 gGg/gAg 0 -CDH11 UCSF GRCh37 16 64981800 64981800 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 180 50 266 0 ENST00000268603.4:c.2097G>A p.Glu699= p.E699= ENST00000268603 NM_001797.2 699 gaG/gaA 0 -CDH12 UCSF GRCh37 5 21752025 21752025 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 138 38 212 0 ENST00000382254.1:c.2206C>T p.Leu736= p.L736= ENST00000382254 NM_004061.3 736 Ctg/Ttg 0 -CDH23 UCSF GRCh37 10 73405665 73405665 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 80 28 200 0 ENST00000224721.6:c.1233G>A p.Gln411= p.Q411= ENST00000224721 NM_022124.5 411 caG/caA 0 -CDH23 UCSF GRCh37 10 73544108 73544108 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 66 29 160 0 ENST00000224721.6:c.5448G>A p.Arg1816= p.R1816= ENST00000224721 NM_022124.5 1816 cgG/cgA 0 -CDHR3 UCSF GRCh37 7 105672892 105672892 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 108 38 167 0 ENST00000317716.9:c.2407G>A p.Asp803Asn p.D803N ENST00000317716 NM_152750.4 803 Gat/Aat 0 -CDKN1B UCSF GRCh37 12 12870849 12870849 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 39 0 ENST00000228872.4:c.78del p.Ser27ArgfsTer15 p.S27Rfs*15 ENST00000228872 NM_004064.3 26 Ccc/cc 0 -CDKN2A UCSF GRCh37 9 21974770 21974770 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 12 0 ENST00000304494.5:c.57del p.Ala20ArgfsTer6 p.A20Rfs*6 ENST00000304494 NM_000077.4 19 gcC/gc 0 -CDON UCSF GRCh37 11 125851126 125851126 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 98 12 173 0 ENST00000392693.3:c.3094G>A p.Val1032Ile p.V1032I ENST00000392693 NM_001243597.1 1032 Gtt/Att 0 -CDX4 UCSF GRCh37 X 72667505 72667505 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 4 42 63 0 ENST00000373514.2:c.416C>T p.Thr139Met p.T139M ENST00000373514 NM_005193.1 139 aCg/aTg 0 -CELSR3 UCSF GRCh37 3 48696345 48696345 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 60 15 103 0 ENST00000164024.4:c.3723G>A p.Val1241= p.V1241= ENST00000164024 NM_001407.2 1241 gtG/gtA 0 -CENPF UCSF GRCh37 1 214819208 214819208 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 142 18 157 0 ENST00000366955.3:c.6295G>A p.Glu2099Lys p.E2099K ENST00000366955 NM_016343.3 2099 Gag/Aag 0 -CEP350 UCSF GRCh37 1 179961206 179961206 + missense_variant Missense_Mutation SNP A A T NOVEL P21_Rec Untested WXS Illumina HiSeq 36 7 42 0 ENST00000367607.3:c.245A>T p.Tyr82Phe p.Y82F ENST00000367607 NM_014810.4 82 tAc/tTc 0 -CEP72 UCSF GRCh37 5 620366 620366 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 92 21 133 0 ENST00000264935.5:c.393C>T p.Leu131= p.L131= ENST00000264935 NM_018140.3 131 ctC/ctT 0 -CEP78 UCSF GRCh37 9 80880305 80880305 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 113 29 154 0 ENST00000376597.4:c.1646C>T p.Thr549Ile p.T549I ENST00000376597 NM_001098802.1 549 aCa/aTa 0 -CETN2 UCSF GRCh37 X 151997217 151997217 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 40 26 85 0 ENST00000370277.3:c.293C>T p.Ser98Phe p.S98F ENST00000370277 NM_004344.1 98 tCt/tTt 0 -CFHR5 UCSF GRCh37 1 196965270 196965270 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 156 38 189 0 ENST00000256785.4:c.909G>A p.Met303Ile p.M303I ENST00000256785 303 atG/atA 0 -CHCHD7 UCSF GRCh37 8 57129925 57129925 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 52 13 63 0 ENST00000303759.3:c.264G>A p.Val88= p.V88= ENST00000303759 NM_001011667.1 88 gtG/gtA 0 -CHD6 UCSF GRCh37 20 40162013 40162013 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 173 52 209 0 ENST00000373233.3:c.230C>T p.Thr77Ile p.T77I ENST00000373233 NM_032221.4 77 aCa/aTa 0 -CHD9 UCSF GRCh37 16 53357969 53357969 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 312 46 394 0 ENST00000566029.1:c.7808C>T p.Thr2603Ile p.T2603I ENST00000566029 2603 aCt/aTt 0 -CHEK2 UCSF GRCh37 22 29085187 29085187 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 122 30 260 0 ENST00000328354.6:c.1478G>A p.Arg493Lys p.R493K ENST00000328354 NM_007194.3 493 aGa/aAa 0 -CHI3L1 UCSF GRCh37 1 203151876 203151876 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 73 17 114 0 ENST00000255409.3:c.570C>T p.Asp190= p.D190= ENST00000255409 NM_001276.2 190 gaC/gaT 0 -CHMP7 UCSF GRCh37 8 23114047 23114047 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 226 58 359 0 ENST00000397677.1:c.732G>A p.Leu244= p.L244= ENST00000397677 NM_152272.3 244 ctG/ctA 0 -CHRM5 UCSF GRCh37 15 34356140 34356140 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Rec Untested WXS Illumina HiSeq 216 48 319 0 ENST00000383263.5:c.1222C>G p.Pro408Ala p.P408A ENST00000383263 NM_012125.3 408 Cca/Gca 0 -CHRNA1 UCSF GRCh37 2 175619138 175619138 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 70 25 142 0 ENST00000261007.5:c.424G>A p.Asp142Asn p.D142N ENST00000261007 NM_001039523.2 142 Gat/Aat 0 -CHST9 UCSF GRCh37 18 24604085 24604085 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 29 16 43 0 ENST00000284224.8:c.197G>A p.Arg66Lys p.R66K ENST00000284224 NM_031422.5 66 aGa/aAa 0 -CLCNKA UCSF GRCh37 1 16355325 16355325 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 79 21 123 0 ENST00000331433.4:c.1038C>T p.His346= p.H346= ENST00000331433 346 caC/caT 0 -CLEC6A UCSF GRCh37 12 8618156 8618156 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 160 25 169 0 ENST00000382073.3:c.300G>A p.Trp100Ter p.W100* ENST00000382073 NM_001007033.1 100 tgG/tgA 0 -CLK2 UCSF GRCh37 1 155233756 155233756 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 137 48 187 0 ENST00000361168.5:c.1299C>T p.Asn433= p.N433= ENST00000361168 433 aaC/aaT 0 -CLSPN UCSF GRCh37 1 36230067 36230067 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 136 26 100 1 ENST00000318121.3:c.382G>A p.Val128Met p.V128M ENST00000318121 NM_022111.3 128 Gtg/Atg 0 -CLSTN3 UCSF GRCh37 12 7285717 7285717 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 59 15 82 0 ENST00000266546.6:c.162C>T p.Asp54= p.D54= ENST00000266546 NM_014718.3 54 gaC/gaT 0 -CMAS UCSF GRCh37 12 22218154 22218154 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 210 34 190 0 ENST00000229329.2:c.1214G>A p.Cys405Tyr p.C405Y ENST00000229329 NM_018686.4 405 tGc/tAc 0 -CMYA5 UCSF GRCh37 5 79025325 79025325 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 193 47 194 0 ENST00000446378.2:c.737G>A p.Gly246Glu p.G246E ENST00000446378 NM_153610.3 246 gGa/gAa 0 -CNGA1 UCSF GRCh37 4 47951873 47951873 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 74 21 89 0 ENST00000402813.3:c.483G>A p.Val161= p.V161= ENST00000402813 161 gtG/gtA 0 -CNPY4 UCSF GRCh37 7 99722496 99722496 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 117 46 217 0 ENST00000262932.3:c.732C>T p.Asp244= p.D244= ENST00000262932 NM_152755.1 244 gaC/gaT 0 -CNR2 UCSF GRCh37 1 24201575 24201575 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 107 27 151 0 ENST00000536471.1:c.533C>T p.Pro178Leu p.P178L ENST00000536471 178 cCc/cTc 0 -CNTN6 UCSF GRCh37 3 1444021 1444021 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 75 29 127 0 ENST00000446702.2:c.2837G>A p.Arg946Lys p.R946K ENST00000446702 946 aGa/aAa 0 -CNTNAP1 UCSF GRCh37 17 40849300 40849300 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 85 16 109 0 ENST00000264638.4:c.3483C>T p.Tyr1161= p.Y1161= ENST00000264638 NM_003632.2 1161 taC/taT 0 -COG8 UCSF GRCh37 16 69366747 69366747 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 127 34 191 0 ENST00000306875.4:c.1452G>A p.Glu484= p.E484= ENST00000306875 NM_032382.4 484 gaG/gaA 0 -COL10A1 UCSF GRCh37 6 116442735 116442735 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 37 5 82 0 ENST00000327673.4:c.544C>T p.Pro182Ser p.P182S ENST00000327673 182 Cct/Tct 0 -COL1A1 UCSF GRCh37 17 48273995 48273995 + missense_variant Missense_Mutation SNP C C T snp132_rs72645334 P21_Rec Untested WXS Illumina HiSeq 370 93 491 0 ENST00000225964.5:c.841G>A p.Gly281Ser p.G281S ENST00000225964 NM_000088.3 281 Ggt/Agt 0 -COL5A3 UCSF GRCh37 19 10108817 10108817 + synonymous_variant Silent SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 270 59 364 0 ENST00000264828.3:c.1119A>G p.Gly373= p.G373= ENST00000264828 NM_015719.3 373 ggA/ggG 0 -COL6A2 UCSF GRCh37 21 47544812 47544812 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 66 17 80 0 ENST00000300527.4:c.1748C>T p.Pro583Leu p.P583L ENST00000300527 NM_001849.3 583 cCc/cTc 0 -COL6A3 UCSF GRCh37 2 238303787 238303787 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 46 23 75 0 ENST00000295550.4:c.152G>A p.Gly51Glu p.G51E ENST00000295550 NM_004369.3 51 gGa/gAa 0 -COL6A3 UCSF GRCh37 2 238275523 238275523 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 106 38 214 0 ENST00000295550.4:c.5307G>A p.Arg1769= p.R1769= ENST00000295550 NM_004369.3 1769 agG/agA 0 -COL6A6 UCSF GRCh37 3 130286093 130286093 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 303 74 365 0 ENST00000358511.6:c.1830C>T p.Ile610= p.I610= ENST00000358511 NM_001102608.1 610 atC/atT 0 -COL6A6 UCSF GRCh37 3 130300508 130300508 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 365 97 443 0 ENST00000358511.6:c.3651C>T p.Ile1217= p.I1217= ENST00000358511 NM_001102608.1 1217 atC/atT 0 -COL9A1 UCSF GRCh37 6 70973001 70973001 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 17 3 29 0 ENST00000357250.6:c.1342-1G>A p.X448_splice ENST00000357250 NM_001851.4 0 -COL9A2 UCSF GRCh37 1 40777380 40777380 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 26 123 0 ENST00000372748.3:c.425C>T p.Pro142Leu p.P142L ENST00000372748 NM_001852.3 142 cCt/cTt 0 -COPA UCSF GRCh37 1 160281759 160281759 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 81 21 128 0 ENST00000368069.3:c.975C>T p.Ala325= p.A325= ENST00000368069 325 gcC/gcT 0 -COPB1 UCSF GRCh37 11 14510097 14510097 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 22 12 62 0 ENST00000249923.3:c.640G>A p.Asp214Asn p.D214N ENST00000249923 NM_016451.4 214 Gat/Aat 0 -COQ2 UCSF GRCh37 4 84191112 84191112 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 83 44 229 1 ENST00000311469.4:c.813G>A p.Trp271Ter p.W271* ENST00000311469 NM_015697.7 271 tgG/tgA 0 -CORO1A UCSF GRCh37 16 30199523 30199523 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 129 18 213 0 ENST00000219150.5:c.1018C>T p.Leu340= p.L340= ENST00000219150 NM_007074.3 340 Ctg/Ttg 0 -CP UCSF GRCh37 3 148899850 148899850 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 126 38 163 0 ENST00000264613.6:c.2496C>T p.Tyr832= p.Y832= ENST00000264613 NM_000096.3 832 taC/taT 0 -CPNE3 UCSF GRCh37 8 87540831 87540831 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 85 19 115 0 ENST00000521271.1:c.58G>T p.Asp20Tyr p.D20Y ENST00000521271 NM_003909.3 20 Gat/Tat 0 -CPNE3 UCSF GRCh37 8 87559997 87559997 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 42 6 40 0 ENST00000521271.1:c.878C>T p.Thr293Ile p.T293I ENST00000521271 NM_003909.3 293 aCt/aTt 0 -CPNE6 UCSF GRCh37 14 24546809 24546809 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 104 48 249 0 ENST00000397016.2:c.1544C>T p.Pro515Leu p.P515L ENST00000397016 NM_001280558.1 515 cCc/cTc 0 -CPNE9 UCSF GRCh37 3 9746480 9746480 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 25 4 29 0 ENST00000383832.3:c.156+1G>A p.X52_splice ENST00000383832 NM_153635.2 0 -CPT1A UCSF GRCh37 11 68540840 68540840 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 102 37 161 0 ENST00000265641.5:c.1633G>A p.Asp545Asn p.D545N ENST00000265641 NM_001876.3 545 Gat/Aat 0 -CRADD UCSF GRCh37 12 94244012 94244012 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 46 11 58 0 ENST00000542893.2:c.565G>A p.Val189Met p.V189M ENST00000542893 189 Gtg/Atg 0 -CREBBP UCSF GRCh37 16 3779333 3779333 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 14 5 24 0 ENST00000262367.5:c.5715C>T p.Pro1905= p.P1905= ENST00000262367 NM_004380.2 1905 ccC/ccT 0 -CRLF3 UCSF GRCh37 17 29112936 29112936 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 81 16 96 0 ENST00000324238.6:c.1072+1G>A p.X358_splice ENST00000324238 NM_015986.3 0 -CRMP1 UCSF GRCh37 4 5827243 5827243 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 105 27 145 0 ENST00000324989.7:c.1947C>T p.His649= p.H649= ENST00000324989 NM_001014809.1 649 caC/caT 0 -CRTC1 UCSF GRCh37 19 18888034 18888034 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 262 100 327 0 ENST00000338797.6:c.1795G>A p.Gly599Arg p.G599R ENST00000338797 NM_001098482.1 599 Ggg/Agg 0 -CSHL1 UCSF GRCh37 17 61987262 61987262 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 242 70 341 0 ENST00000309894.5:c.478G>A p.Glu160Lys p.E160K ENST00000309894 NM_022579.1 160 Gaa/Aaa 0 -CTDP1 UCSF GRCh37 18 77474755 77474755 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 13 5 25 0 ENST00000299543.7:c.1295G>A p.Gly432Asp p.G432D ENST00000299543 NM_001202504.1 432 gGt/gAt 0 -CTLA4 UCSF GRCh37 2 204736188 204736188 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 114 32 179 0 ENST00000302823.3:c.545C>T p.Thr182Ile p.T182I ENST00000302823 NM_005214.4 182 aCa/aTa 0 -CTNNA3 UCSF GRCh37 10 69281603 69281603 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 76 20 146 0 ENST00000433211.2:c.576G>A p.Gln192= p.Q192= ENST00000433211 NM_013266.2 192 caG/caA 0 -CTSL2 UCSF GRCh37 9 99799878 99799878 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 266 62 339 0 ENST00000259470.5:c.146G>A p.Arg49Lys p.R49K ENST00000259470 NM_001333.3 49 aGa/aAa 0 -CTTNBP2NL UCSF GRCh37 1 112991731 112991731 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 81 22 91 0 ENST00000271277.6:c.267G>A p.Gln89= p.Q89= ENST00000271277 NM_018704.2 89 caG/caA 0 -CTU2 UCSF GRCh37 16 88776418 88776418 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 122 31 274 0 ENST00000453996.2:c.216C>T p.Gly72= p.G72= ENST00000453996 NM_001012759.1 72 ggC/ggT 0 -CUL7 UCSF GRCh37 6 43005665 43005665 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 90 15 72 0 ENST00000535468.1:c.5110G>A p.Asp1704Asn p.D1704N ENST00000535468 NM_014780.4 1704 Gac/Aac 0 -CX3CL1 UCSF GRCh37 16 57416257 57416257 + synonymous_variant Silent SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 56 29 102 0 ENST00000006053.6:c.507C>A p.Leu169= p.L169= ENST00000006053 NM_002996.3 169 ctC/ctA 0 -CYB5D1 UCSF GRCh37 17 7762789 7762789 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 121 39 199 0 ENST00000332439.4:c.546G>A p.Gly182= p.G182= ENST00000332439 NM_144607.4 182 ggG/ggA 0 -CYFIP2 UCSF GRCh37 5 156747704 156747704 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 58 37 169 0 ENST00000521420.1:c.1487G>A p.Gly496Glu p.G496E ENST00000521420 496 gGa/gAa 0 -CYP26C1 UCSF GRCh37 10 94828367 94828367 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 17 10 37 0 ENST00000285949.5:c.1482G>A p.Thr494= p.T494= ENST00000285949 NM_183374.2 494 acG/acA 0 -CYTH2 UCSF GRCh37 19 48973630 48973630 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 157 53 231 0 ENST00000452733.2:c.40G>A p.Glu14Lys p.E14K ENST00000452733 14 Gag/Aag 0 -DACT1 UCSF GRCh37 14 59107525 59107525 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 152 56 243 0 ENST00000335867.4:c.417G>A p.Leu139= p.L139= ENST00000335867 139 ctG/ctA 0 -DBF4B UCSF GRCh37 17 42828469 42828469 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 167 59 280 0 ENST00000315005.3:c.1696C>T p.Pro566Ser p.P566S ENST00000315005 NM_145663.2 566 Ccc/Tcc 0 -DCHS1 UCSF GRCh37 11 6648774 6648774 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 67 8 117 0 ENST00000299441.3:c.5496G>A p.Gln1832= p.Q1832= ENST00000299441 NM_003737.2 1832 caG/caA 0 -DCHS1 UCSF GRCh37 11 6643673 6643673 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 22 11 46 0 ENST00000299441.3:c.9234C>T p.Asp3078= p.D3078= ENST00000299441 NM_003737.2 3078 gaC/gaT 0 -DDR1 UCSF GRCh37 6 30865957 30865957 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 204 27 145 0 ENST00000376575.3:c.2342G>A p.Gly781Glu p.G781E ENST00000376575 781 gGg/gAg 0 -DDX18 UCSF GRCh37 2 118586528 118586528 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 46 8 57 0 ENST00000263239.2:c.1639C>T p.Pro547Ser p.P547S ENST00000263239 NM_006773.3 547 Cca/Tca 0 -DDX49 UCSF GRCh37 19 19033453 19033453 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 158 29 141 0 ENST00000247003.4:c.676G>A p.Val226Met p.V226M ENST00000247003 NM_019070.4 226 Gtg/Atg 0 -DENND2D UCSF GRCh37 1 111740573 111740573 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 40 18 48 0 ENST00000357640.4:c.395G>A p.Ser132Asn p.S132N ENST00000357640 NM_024901.4 132 aGc/aAc 0 -DIDO1 UCSF GRCh37 20 61511428 61511428 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 209 52 314 0 ENST00000266070.4:c.5880G>A p.Arg1960= p.R1960= ENST00000266070 NM_033081.2 1960 agG/agA 0 -DLEC1 UCSF GRCh37 3 38125727 38125727 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 129 35 150 1 ENST00000308059.6:c.1252C>T p.Leu418= p.L418= ENST00000308059 418 Ctg/Ttg 0 -DLGAP4 UCSF GRCh37 20 35125306 35125306 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 117 22 155 0 ENST00000373913.3:c.1847C>T p.Thr616Ile p.T616I ENST00000373913 616 aCc/aTc 0 -DLL4 UCSF GRCh37 15 41229048 41229048 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 137 42 171 0 ENST00000249749.5:c.1863C>T p.Pro621= p.P621= ENST00000249749 NM_019074.3 621 ccC/ccT 0 -DMXL1 UCSF GRCh37 5 118469874 118469874 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 168 27 188 0 ENST00000311085.8:c.2254+1G>A p.X752_splice ENST00000311085 NM_005509.4 0 -DNAH11 UCSF GRCh37 7 21723468 21723468 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 253 109 475 1 ENST00000328843.6:c.5548C>T p.His1850Tyr p.H1850Y ENST00000328843 1850 Cac/Tac 0 -DNAH9 UCSF GRCh37 17 11583146 11583146 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 154 46 251 1 ENST00000262442.4:c.3426C>T p.Phe1142= p.F1142= ENST00000262442 NM_001372.3 1142 ttC/ttT 0 -DNAH9 UCSF GRCh37 17 11795177 11795177 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 187 39 242 1 ENST00000262442.4:c.11196C>T p.Asp3732= p.D3732= ENST00000262442 NM_001372.3 3732 gaC/gaT 0 -DNAJC13 UCSF GRCh37 3 132203503 132203503 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 133 26 142 0 ENST00000260818.6:c.3254C>T p.Pro1085Leu p.P1085L ENST00000260818 NM_015268.3 1085 cCc/cTc 0 -DNAJC13 UCSF GRCh37 3 132172971 132172971 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 86 12 85 0 ENST00000260818.6:c.902G>A p.Gly301Glu p.G301E ENST00000260818 NM_015268.3 301 gGg/gAg 0 -DNAJC14 UCSF GRCh37 12 56221696 56221696 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 103 46 214 0 ENST00000357606.3:c.747G>A p.Gln249= p.Q249= ENST00000357606 249 caG/caA 0 -DNPEP UCSF GRCh37 2 220251054 220251054 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 117 50 246 0 ENST00000273075.4:c.413C>T p.Thr138Ile p.T138I ENST00000273075 NM_012100.2 138 aCc/aTc 0 -DOCK5 UCSF GRCh37 8 25174587 25174587 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 345 42 467 1 ENST00000276440.7:c.1383G>A p.Lys461= p.K461= ENST00000276440 NM_024940.6 461 aaG/aaA 0 -DPCD UCSF GRCh37 10 103361091 103361091 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 95 40 221 0 ENST00000370151.4:c.402G>A p.Lys134= p.K134= ENST00000370151 NM_015448.1 134 aaG/aaA 0 -DPEP2 UCSF GRCh37 16 68026929 68026929 + missense_variant Missense_Mutation SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 11 6 31 0 ENST00000412757.2:c.187A>G p.Thr63Ala p.T63A ENST00000412757 63 Aca/Gca 0 -DPP8 UCSF GRCh37 15 65756199 65756199 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 72 16 89 0 ENST00000341861.5:c.1919G>A p.Ser640Asn p.S640N ENST00000341861 NM_197960.2 640 aGt/aAt 0 -DPP8 UCSF GRCh37 15 65771336 65771336 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 64 24 63 0 ENST00000341861.5:c.1386G>A p.Glu462= p.E462= ENST00000341861 NM_197960.2 462 gaG/gaA 0 -DPP9 UCSF GRCh37 19 4697580 4697580 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 37 31 85 0 ENST00000262960.9:c.1158G>A p.Trp386Ter p.W386* ENST00000262960 NM_139159.4 386 tgG/tgA 0 -DPYSL5 UCSF GRCh37 2 27165609 27165609 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 69 24 126 0 ENST00000288699.6:c.1431G>A p.Gln477= p.Q477= ENST00000288699 NM_001253724.1 477 caG/caA 0 -DSCAM UCSF GRCh37 21 41668075 41668075 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 133 27 138 0 ENST00000400454.1:c.2089C>T p.Arg697Trp p.R697W ENST00000400454 NM_001271534.1 697 Cgg/Tgg 0 -DST UCSF GRCh37 6 56483139 56483139 + intron_variant Intron SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 164 24 119 0 ENST00000244364.6:c.3319-3857G>A *1107* ENST00000244364 NM_015548.4 0 -DST UCSF GRCh37 6 56438626 56438626 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 333 39 281 0 ENST00000244364.6:c.5218C>T p.Leu1740Phe p.L1740F ENST00000244364 NM_015548.4 1740 Ctc/Ttc 0 -DTNA UCSF GRCh37 18 32462088 32462088 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 73 20 137 0 ENST00000598334.1:c.1957G>A p.Asp653Asn p.D653N ENST00000598334 NM_001198938.1 653 Gac/Aac 0 -DUOX2 UCSF GRCh37 15 45386450 45386450 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 84 25 103 0 ENST00000603300.1:c.4545C>T p.Phe1515= p.F1515= ENST00000603300 NM_014080.4 1515 ttC/ttT 0 -DYTN UCSF GRCh37 2 207569614 207569614 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 158 51 250 0 ENST00000452335.2:c.436C>T p.Arg146Cys p.R146C ENST00000452335 NM_001093730.1 146 Cgc/Tgc 0 -EBF4 UCSF GRCh37 20 2690257 2690257 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 18 3 34 0 ENST00000380648.4:c.514G>A p.Glu172Lys p.E172K ENST00000380648 NM_001110514.1 172 Gag/Aag 0 -EDC4 UCSF GRCh37 16 67915601 67915601 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 92 25 135 0 ENST00000358933.5:c.2857C>T p.Leu953= p.L953= ENST00000358933 NM_014329.4 953 Cta/Tta 0 -EEF1A1 UCSF GRCh37 6 74228138 74228138 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 52 33 288 0 ENST00000316292.9:c.968G>A p.Gly323Asp p.G323D ENST00000316292 NM_001402.5 323 gGc/gAc 0 -EFR3A UCSF GRCh37 8 132966207 132966207 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 150 29 126 0 ENST00000254624.5:c.631G>A p.Val211Ile p.V211I ENST00000254624 NM_015137.4 211 Gtt/Att 0 -EHD1 UCSF GRCh37 11 64645795 64645795 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 147 48 248 0 ENST00000320631.3:c.142C>T p.Pro48Ser p.P48S ENST00000320631 NM_006795.2 48 Ccc/Tcc 0 -EHMT2 UCSF GRCh37 6 31864468 31864468 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 199 29 135 0 ENST00000375537.4:c.243C>T p.Thr81= p.T81= ENST00000375537 NM_006709.3 81 acC/acT 0 -EIF2AK2 UCSF GRCh37 2 37374877 37374877 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 155 51 268 0 ENST00000233057.4:c.73C>T p.Leu25Phe p.L25F ENST00000233057 NM_001135651.2 25 Ctt/Ttt 0 -EIF2AK3 UCSF GRCh37 2 88874467 88874467 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 188 45 273 0 ENST00000303236.3:c.2534G>A p.Ser845Asn p.S845N ENST00000303236 NM_004836.5 845 aGc/aAc 0 -EIF2C1 UCSF GRCh37 1 36360759 36360759 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 135 23 199 0 ENST00000373204.4:c.909G>A p.Glu303= p.E303= ENST00000373204 NM_012199.2 303 gaG/gaA 0 -EIF2D UCSF GRCh37 1 206772907 206772907 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 141 28 179 0 ENST00000271764.2:c.1112G>A p.Ser371Asn p.S371N ENST00000271764 NM_006893.2 371 aGc/aAc 0 -ELANE UCSF GRCh37 19 855770 855770 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 97 31 100 0 ENST00000590230.1:c.573G>A p.Arg191= p.R191= ENST00000590230 191 agG/agA 0 -ELL UCSF GRCh37 19 18572590 18572590 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 127 20 142 0 ENST00000262809.4:c.542C>T p.Pro181Leu p.P181L ENST00000262809 NM_006532.3 181 cCc/cTc 0 -ELMO3 UCSF GRCh37 16 67236151 67236151 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 168 56 291 0 ENST00000393997.2:c.1384G>A p.Val462Met p.V462M ENST00000393997 NM_024712.3 462 Gtg/Atg 0 -EME1 UCSF GRCh37 17 48456458 48456458 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 118 30 151 1 ENST00000393271.2:c.1142C>T p.Pro381Leu p.P381L ENST00000393271 NM_001166131.1 381 cCc/cTc 0 -EMR1 UCSF GRCh37 19 6937382 6937382 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 102 43 194 1 ENST00000312053.4:c.2510G>A p.Gly837Glu p.G837E ENST00000312053 NM_001974.4 837 gGg/gAg 0 -ENTHD1 UCSF GRCh37 22 40140178 40140178 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 112 28 132 0 ENST00000325157.6:c.1330C>T p.Pro444Ser p.P444S ENST00000325157 NM_152512.3 444 Cct/Tct 0 -EP400 UCSF GRCh37 12 132529870 132529870 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 54 16 98 0 ENST00000389561.2:c.6791G>A p.Gly2264Asp p.G2264D ENST00000389561 NM_015409.4 2264 gGc/gAc 0 -EPB41L4B UCSF GRCh37 9 111947801 111947801 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 55 11 72 0 ENST00000374566.3:c.2386G>A p.Val796Ile p.V796I ENST00000374566 NM_019114.3 796 Gtt/Att 0 -EPC2 UCSF GRCh37 2 149447906 149447906 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 282 59 375 0 ENST00000258484.6:c.277G>A p.Glu93Lys p.E93K ENST00000258484 NM_015630.3 93 Gag/Aag 0 -EPHA6 UCSF GRCh37 3 97198182 97198182 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 63 10 96 0 ENST00000389672.5:c.2048G>A p.Arg683Lys p.R683K ENST00000389672 NM_001080448.2 683 aGa/aAa 0 -EPHB3 UCSF GRCh37 3 184293762 184293762 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 73 51 222 0 ENST00000330394.2:c.1001G>A p.Ser334Asn p.S334N ENST00000330394 NM_004443.3 334 aGt/aAt 0 -EPRS UCSF GRCh37 1 220160503 220160503 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 108 30 130 0 ENST00000366923.3:c.3019G>A p.Gly1007Arg p.G1007R ENST00000366923 NM_004446.2 1007 Ggg/Agg 0 -ERCC6L UCSF GRCh37 X 71427075 71427075 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 80 44 126 0 ENST00000334463.3:c.1542G>A p.Leu514= p.L514= ENST00000334463 NM_017669.2 514 ttG/ttA 0 -ERCC8 UCSF GRCh37 5 60240799 60240799 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 153 22 171 0 ENST00000265038.5:c.37G>A p.Glu13Lys p.E13K ENST00000265038 NM_000082.3 13 Gag/Aag 0 -ESPL1 UCSF GRCh37 12 53663436 53663436 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 209 88 413 0 ENST00000257934.4:c.710G>A p.Gly237Glu p.G237E ENST00000257934 NM_012291.4 237 gGg/gAg 0 -ESRP1 UCSF GRCh37 8 95654212 95654212 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 217 43 206 0 ENST00000433389.2:c.161G>A p.Arg54Lys p.R54K ENST00000433389 NM_001034915.2 54 aGa/aAa 0 -EVC2 UCSF GRCh37 4 5624425 5624425 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 48 37 99 0 ENST00000344408.5:c.2340C>T p.His780= p.H780= ENST00000344408 NM_147127.4 780 caC/caT 0 -EYA3 UCSF GRCh37 1 28384522 28384522 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 139 36 163 0 ENST00000373871.3:c.16G>A p.Asp6Asn p.D6N ENST00000373871 6 Gat/Aat 0 -FAAH UCSF GRCh37 1 46871454 46871454 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 61 23 105 0 ENST00000243167.8:c.773G>A p.Gly258Glu p.G258E ENST00000243167 NM_001441.2 258 gGg/gAg 0 -FAF2 UCSF GRCh37 5 175906208 175906208 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 50 25 133 0 ENST00000261942.6:c.83C>T p.Ser28Phe p.S28F ENST00000261942 NM_014613.2 28 tCt/tTt 0 -FAM109B UCSF GRCh37 22 42474031 42474031 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 16 7 15 0 ENST00000321753.3:c.734G>A p.Arg245Lys p.R245K ENST00000321753 NM_001002034.2 245 aGg/aAg 0 -FAM110B UCSF GRCh37 8 59059817 59059817 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 81 17 131 0 ENST00000361488.3:c.1028C>T p.Ser343Phe p.S343F ENST00000361488 NM_147189.2 343 tCt/tTt 0 -FAM117B UCSF GRCh37 2 203622117 203622117 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 77 14 138 0 ENST00000392238.2:c.1286G>A p.Ser429Asn p.S429N ENST00000392238 429 aGt/aAt 0 -FAM120A UCSF GRCh37 9 96320950 96320950 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 112 36 144 0 ENST00000277165.6:c.2756G>A p.Cys919Tyr p.C919Y ENST00000277165 NM_014612.3 919 tGc/tAc 0 -FAM120AOS UCSF GRCh37 9 96214878 96214878 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 36 13 54 0 ENST00000375412.5:c.114C>T p.Asp38= p.D38= ENST00000375412 NM_198841.2 38 gaC/gaT 0 -FAM153A UCSF GRCh37 5 177166124 177166124 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 60 9 136 1 ENST00000440605.3:c.321C>T p.Thr107= p.T107= ENST00000440605 NM_173663.3 107 acC/acT 0 -FAM179B UCSF GRCh37 14 45432574 45432574 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 110 33 148 0 ENST00000361577.3:c.950G>A p.Ser317Asn p.S317N ENST00000361577 NM_015091.2 317 aGt/aAt 0 -FAM184B UCSF GRCh37 4 17636702 17636702 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 110 29 129 0 ENST00000265018.3:c.2819G>A p.Ser940Asn p.S940N ENST00000265018 NM_015688.1 940 aGt/aAt 0 -FAM208B UCSF GRCh37 10 5789811 5789811 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 151 22 146 0 ENST00000328090.5:c.4427C>T p.Ser1476Phe p.S1476F ENST00000328090 NM_017782.4 1476 tCt/tTt 0 -FAM21B UCSF GRCh37 10 47911067 47911067 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 28 5 73 0 ENST00000358474.5:c.935C>T p.Pro312Leu p.P312L ENST00000358474 NM_018232.1 312 cCt/cTt 0 -FAM40A UCSF GRCh37 1 110582130 110582130 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 12 6 37 0 ENST00000369795.3:c.574G>A p.Glu192Lys p.E192K ENST00000369795 NM_033088.3 192 Gaa/Aaa 0 -FAM40B UCSF GRCh37 7 129096376 129096376 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 86 33 189 0 ENST00000249344.2:c.931G>A p.Val311Met p.V311M ENST00000249344 NM_020704.2 311 Gtg/Atg 0 -FAM47C UCSF GRCh37 X 37026847 37026847 + stop_gained Nonsense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 82 56 152 0 ENST00000358047.3:c.364G>T p.Glu122Ter p.E122* ENST00000358047 NM_001013736.2 122 Gaa/Taa 0 -FAM76A UCSF GRCh37 1 28081740 28081740 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 178 48 232 0 ENST00000010299.6:c.736A>G p.Thr246Ala p.T246A ENST00000010299 246 Act/Gct 0 -FAM96A UCSF GRCh37 15 64365200 64365200 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 136 50 144 0 ENST00000300030.3:c.413G>A p.Arg138Gln p.R138Q ENST00000300030 NM_032231.4 138 cGa/cAa 0 -FAN1 UCSF GRCh37 15 31221558 31221558 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 173 38 222 0 ENST00000362065.4:c.2745C>T p.Ser915= p.S915= ENST00000362065 NM_014967.4 915 tcC/tcT 0 -FANCM UCSF GRCh37 14 45668044 45668044 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 86 34 122 0 ENST00000267430.5:c.5914G>A p.Ala1972Thr p.A1972T ENST00000267430 NM_020937.2 1972 Gca/Aca 0 -FAT1 UCSF GRCh37 4 187557930 187557930 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 332 173 707 1 ENST00000441802.2:c.3781G>A p.Asp1261Asn p.D1261N ENST00000441802 NM_005245.3 1261 Gac/Aac 0 -FBXL18 UCSF GRCh37 7 5530973 5530973 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 24 8 39 0 ENST00000382368.3:c.1889C>T p.Pro630Leu p.P630L ENST00000382368 NM_024963.4 630 cCc/cTc 0 -FBXO5 UCSF GRCh37 6 153296649 153296649 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 85 45 181 0 ENST00000229758.3:c.211C>T p.Leu71= p.L71= ENST00000229758 NM_012177.3 71 Cta/Tta 0 -FCGR2A UCSF GRCh37 1 161483691 161483691 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 249 57 355 1 ENST00000271450.6:c.749C>T p.Ser250Phe p.S250F ENST00000271450 NM_021642.3 250 tCc/tTc 0 -FCGR3B UCSF GRCh37 1 161600921 161600921 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 157 43 259 0 ENST00000531221.1:c.72G>A p.Arg24= p.R24= ENST00000531221 24 cgG/cgA 0 -FEM1C UCSF GRCh37 5 114879155 114879155 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 111 35 130 0 ENST00000274457.3:c.36G>A p.Arg12= p.R12= ENST00000274457 NM_020177.2 12 cgG/cgA 0 -FERMT3 UCSF GRCh37 11 63978216 63978216 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 266 60 368 0 ENST00000279227.5:c.294G>A p.Arg98= p.R98= ENST00000279227 NM_178443.2 98 cgG/cgA 0 -FGFR2 UCSF GRCh37 10 123278254 123278254 + intron_variant Intron SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 37 24 143 0 ENST00000358487.5:c.939+1239C>T *313* ENST00000358487 NM_000141.4 0 -FILIP1L UCSF GRCh37 3 99643078 99643078 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 239 71 349 0 ENST00000354552.3:c.601G>A p.Glu201Lys p.E201K ENST00000354552 NM_182909.2 201 Gaa/Aaa 0 -FIP1L1 UCSF GRCh37 4 54319248 54319249 + frameshift_variant Frame_Shift_Del DEL AG AG - 1000g2010nov_all P21_Rec Untested WXS Illumina HiSeq 20 0 ENST00000337488.6:c.1459_1460delAG p.Arg487GlyfsTer3 p.R487Gfs*3 ENST00000337488 NM_030917.3 483 AGa/a 0 -FKBP10 UCSF GRCh37 17 39974720 39974720 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 57 19 96 0 ENST00000321562.4:c.668C>T p.Pro223Leu p.P223L ENST00000321562 NM_021939.3 223 cCt/cTt 0 -FLG UCSF GRCh37 1 152280250 152280250 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 545 153 995 0 ENST00000368799.1:c.7112G>A p.Ser2371Asn p.S2371N ENST00000368799 NM_002016.1 2371 aGt/aAt 0 -FLG UCSF GRCh37 1 152287016 152287016 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 175 31 196 0 ENST00000368799.1:c.346G>A p.Glu116Lys p.E116K ENST00000368799 NM_002016.1 116 Gaa/Aaa 0 -FLNB UCSF GRCh37 3 58064451 58064451 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 27 3 29 0 ENST00000490882.1:c.549C>T p.Cys183= p.C183= ENST00000490882 NM_001164317.1 183 tgC/tgT 0 -FLT1 UCSF GRCh37 13 29012374 29012374 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 30 5 86 0 ENST00000282397.4:c.497C>T p.Thr166Ile p.T166I ENST00000282397 NM_002019.4 166 aCt/aTt 0 -FMN2 UCSF GRCh37 1 240370916 240370916 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 60 27 118 1 ENST00000319653.9:c.2804C>T p.Pro935Leu p.P935L ENST00000319653 NM_020066.4 935 cCc/cTc 0 -FMO1 UCSF GRCh37 1 171254589 171254589 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 164 39 167 0 ENST00000354841.4:c.1505G>A p.Arg502Gln p.R502Q ENST00000354841 NM_001282692.1 502 cGa/cAa 0 -FOXJ3 UCSF GRCh37 1 42657376 42657376 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 184 24 286 0 ENST00000372572.1:c.949C>T p.Pro317Ser p.P317S ENST00000372572 NM_001198851.1 317 Cct/Tct 0 -FPGT UCSF GRCh37 1 74671005 74671005 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 137 44 175 0 ENST00000609362.1:c.1274G>A p.Gly425Glu p.G425E ENST00000609362 425 gGg/gAg 0 -FRAS1 UCSF GRCh37 4 79430074 79430074 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 71 44 216 0 ENST00000264895.6:c.9694G>A p.Val3232Met p.V3232M ENST00000264895 NM_025074.6 3232 Gtg/Atg 0 -FSIP2 UCSF GRCh37 2 186670828 186670828 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Rec Untested WXS Illumina HiSeq 115 32 204 0 ENST00000343098.5:c.17062G>C p.Val5688Leu p.V5688L ENST00000343098 NM_173651.2 5688 Gta/Cta 0 -FTSJD1 UCSF GRCh37 16 71318473 71318473 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 105 31 118 0 ENST00000338099.5:c.1351G>A p.Glu451Lys p.E451K ENST00000338099 451 Gaa/Aaa 0 -FYTTD1 UCSF GRCh37 3 197482706 197482706 + intron_variant Intron SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 108 23 221 0 ENST00000241502.4:c.104-591G>A *35* ENST00000241502 NM_032288.6 0 -GABRA4 UCSF GRCh37 4 46979087 46979087 + missense_variant Missense_Mutation SNP A A T NOVEL P21_Rec Untested WXS Illumina HiSeq 30 4 46 0 ENST00000264318.3:c.568T>A p.Phe190Ile p.F190I ENST00000264318 NM_000809.3 190 Ttc/Atc 0 -GABRG3 UCSF GRCh37 15 27765224 27765224 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 117 35 147 0 ENST00000333743.6:c.819G>A p.Val273= p.V273= ENST00000333743 NM_033223.4 273 gtG/gtA 0 -GADD45B UCSF GRCh37 19 2477114 2477114 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 69 15 95 0 ENST00000215631.4:c.234C>T p.Ile78= p.I78= ENST00000215631 NM_015675.3 78 atC/atT 0 -GALNT8 UCSF GRCh37 12 4853683 4853683 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 22 107 0 ENST00000252318.2:c.677G>A p.Gly226Glu p.G226E ENST00000252318 NM_017417.1 226 gGa/gAa 0 -GALNTL1 UCSF GRCh37 14 69799836 69799836 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 51 18 105 0 ENST00000337827.4:c.813G>A p.Gln271= p.Q271= ENST00000337827 NM_020692.2 271 caG/caA 0 -GATA2 UCSF GRCh37 3 128204813 128204813 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 45 9 76 0 ENST00000341105.2:c.628G>A p.Gly210Ser p.G210S ENST00000341105 NM_032638.4 210 Ggc/Agc 0 -GBA1 UCSF GRCh37 1 155204985 155204985 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 186 56 305 0 ENST00000327247.5:c.1505+1G>A p.X502_splice ENST00000327247 NM_001005742.2 0 -GBGT1 UCSF GRCh37 9 136030687 136030687 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 44 9 67 0 ENST00000372040.3:c.237G>A p.Leu79= p.L79= ENST00000372040 79 ctG/ctA 0 -GGA1 UCSF GRCh37 22 38019349 38019349 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 262 67 371 0 ENST00000343632.4:c.625G>A p.Glu209Lys p.E209K ENST00000343632 NM_013365.4 209 Gag/Aag 0 -GHRHR UCSF GRCh37 7 31008546 31008546 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 69 21 117 0 ENST00000326139.2:c.155C>T p.Thr52Ile p.T52I ENST00000326139 NM_000823.3 52 aCc/aTc 0 -GIPC3 UCSF GRCh37 19 3586840 3586840 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 57 14 99 0 ENST00000322315.5:c.440G>A p.Arg147Gln p.R147Q ENST00000322315 NM_133261.2 147 cGg/cAg 0 -GJA4 UCSF GRCh37 1 35260362 35260362 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 92 18 170 0 ENST00000342280.4:c.548C>T p.Pro183Leu p.P183L ENST00000342280 NM_002060.2 183 cCc/cTc 0 -GLG1 UCSF GRCh37 16 74542750 74542750 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 66 9 86 0 ENST00000205061.5:c.545C>T p.Ser182Phe p.S182F ENST00000205061 NM_012201.5 182 tCt/tTt 0 -GLI3 UCSF GRCh37 7 42005317 42005317 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 198 24 316 0 ENST00000395925.3:c.3354C>T p.Asp1118= p.D1118= ENST00000395925 NM_000168.5 1118 gaC/gaT 0 -GLIPR1 UCSF GRCh37 12 75874799 75874799 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 88 38 154 0 ENST00000266659.3:c.139G>A p.Glu47Lys p.E47K ENST00000266659 NM_006851.2 47 Gag/Aag 0 -GMCL1 UCSF GRCh37 2 70096865 70096865 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 97 24 134 0 ENST00000282570.3:c.1233G>A p.Trp411Ter p.W411* ENST00000282570 NM_178439.3 411 tgG/tgA 0 -GMIP UCSF GRCh37 19 19745726 19745726 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 165 74 182 0 ENST00000203556.4:c.1762G>A p.Val588Ile p.V588I ENST00000203556 NM_016573.2 588 Gtc/Atc 0 -GMIP UCSF GRCh37 19 19740773 19740773 + stop_retained_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 23 4 24 0 ENST00000203556.4:c.2912G>A p.Ter971= p.*971= ENST00000203556 NM_016573.2 971 tGa/tAa 0 -GNAI2 UCSF GRCh37 3 50290583 50290583 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 192 24 289 0 ENST00000313601.6:c.431C>T p.Ser144Leu p.S144L ENST00000313601 NM_002070.2 144 tCa/tTa 0 -GNL3L UCSF GRCh37 X 54569664 54569664 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 24 5 53 0 ENST00000336470.4:c.415C>T p.Leu139= p.L139= ENST00000336470 NM_019067.5 139 Ctg/Ttg 0 -GPC1 UCSF GRCh37 2 241401873 241401873 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 43 9 43 0 ENST00000264039.2:c.591G>A p.Glu197= p.E197= ENST00000264039 NM_002081.2 197 gaG/gaA 0 -GPER UCSF GRCh37 7 1131933 1131933 + missense_variant Missense_Mutation SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 83 40 169 0 ENST00000397092.1:c.569T>C p.Leu190Pro p.L190P ENST00000397092 NM_001039966.1 190 cTg/cCg 0 -GPLD1 UCSF GRCh37 6 24475433 24475433 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 138 18 154 0 ENST00000230036.1:c.357G>A p.Leu119= p.L119= ENST00000230036 NM_001503.3 119 ttG/ttA 0 -GPR111 UCSF GRCh37 6 47649587 47649587 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 437 53 322 0 ENST00000296862.1:c.1292C>T p.Ser431Phe p.S431F ENST00000296862 431 tCt/tTt 0 -GPR112 UCSF GRCh37 X 135432388 135432388 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 66 57 130 0 ENST00000394143.1:c.6523C>T p.Leu2175= p.L2175= ENST00000394143 NM_153834.3 2175 Ctg/Ttg 0 -GPR114 UCSF GRCh37 16 57600590 57600590 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 151 37 214 0 ENST00000340339.4:c.626G>A p.Cys209Tyr p.C209Y ENST00000340339 NM_153837.1 209 tGt/tAt 0 -GPR125 UCSF GRCh37 4 22390463 22390463 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 141 24 138 0 ENST00000334304.5:c.2831G>A p.Arg944Lys p.R944K ENST00000334304 NM_145290.3 944 aGa/aAa 0 -GPR125 UCSF GRCh37 4 22389518 22389518 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 159 34 171 0 ENST00000334304.5:c.3776C>T p.Thr1259Ile p.T1259I ENST00000334304 NM_145290.3 1259 aCc/aTc 0 -GPR15 UCSF GRCh37 3 98251207 98251207 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 116 34 174 0 ENST00000284311.3:c.330C>T p.Ser110= p.S110= ENST00000284311 NM_005290.2 110 tcC/tcT 0 -GPR155 UCSF GRCh37 2 175335141 175335141 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 55 17 101 0 ENST00000392552.2:c.1003C>T p.Gln335Ter p.Q335* ENST00000392552 NM_152529.6 335 Caa/Taa 0 -GRIN3A UCSF GRCh37 9 104432882 104432882 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 114 30 167 0 ENST00000361820.3:c.1812G>A p.Lys604= p.K604= ENST00000361820 NM_133445.2 604 aaG/aaA 0 -GSTA5 UCSF GRCh37 6 52701042 52701042 + synonymous_variant Silent SNP C C T snp132_rs61735553 P21_Rec Untested WXS Illumina HiSeq 503 67 463 0 ENST00000370989.2:c.264G>A p.Glu88= p.E88= ENST00000370989 88 gaG/gaA 0 -GTF2F1 UCSF GRCh37 19 6380431 6380431 + missense_variant Missense_Mutation SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 326 83 504 1 ENST00000394456.5:c.1415A>G p.Asp472Gly p.D472G ENST00000394456 NM_002096.2 472 gAc/gGc 0 -GTPBP2 UCSF GRCh37 6 43596768 43596768 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 35 9 28 0 ENST00000307126.5:c.132G>A p.Lys44= p.K44= ENST00000307126 NM_019096.3 44 aaG/aaA 0 -GTPBP4 UCSF GRCh37 10 1054927 1054927 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 116 42 180 0 ENST00000360803.4:c.1143G>A p.Val381= p.V381= ENST00000360803 NM_012341.2 381 gtG/gtA 0 -GULP1 UCSF GRCh37 2 189405948 189405948 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 71 37 124 0 ENST00000409580.1:c.302G>A p.Cys101Tyr p.C101Y ENST00000409580 101 tGt/tAt 0 -GZF1 UCSF GRCh37 20 23351007 23351007 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 148 27 202 0 ENST00000338121.5:c.2065G>A p.Glu689Lys p.E689K ENST00000338121 689 Gag/Aag 0 -GZF1 UCSF GRCh37 20 23346133 23346133 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 167 58 341 0 ENST00000338121.5:c.1113C>T p.His371= p.H371= ENST00000338121 371 caC/caT 0 -H2AFY UCSF GRCh37 5 134670722 134670722 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 148 48 206 0 ENST00000511689.1:c.1063G>A p.Asp355Asn p.D355N ENST00000511689 NM_138610.2 355 Gac/Aac 0 -HAUS1 UCSF GRCh37 18 43702472 43702472 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 90 24 140 0 ENST00000282058.6:c.516G>A p.Arg172= p.R172= ENST00000282058 NM_138443.3 172 agG/agA 0 -HAUS5 UCSF GRCh37 19 36113550 36113550 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 83 17 80 0 ENST00000203166.5:c.1699C>T p.Leu567= p.L567= ENST00000203166 NM_015302.1 567 Ctg/Ttg 0 -HAUS8 UCSF GRCh37 19 17160698 17160698 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 231 59 331 0 ENST00000253669.5:c.1218G>A p.Gly406= p.G406= ENST00000253669 406 ggG/ggA 0 -HEATR1 UCSF GRCh37 1 236722401 236722401 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 91 20 112 0 ENST00000366582.3:c.4805C>T p.Pro1602Leu p.P1602L ENST00000366582 NM_018072.5 1602 cCt/cTt 0 -HEATR5A UCSF GRCh37 14 31813262 31813262 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 110 37 169 0 ENST00000389961.3:c.3050C>T p.Thr1017Ile p.T1017I ENST00000389961 1017 aCt/aTt 0 -HEATR5B UCSF GRCh37 2 37302778 37302778 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 105 33 177 0 ENST00000233099.5:c.448-1G>A p.X150_splice ENST00000233099 NM_019024.1 0 -HECW2 UCSF GRCh37 2 197184437 197184437 + stop_gained Nonsense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 95 44 197 0 ENST00000260983.3:c.1177G>T p.Glu393Ter p.E393* ENST00000260983 NM_020760.1 393 Gaa/Taa 0 -HERC1 UCSF GRCh37 15 63964892 63964892 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 130 23 144 1 ENST00000443617.2:c.7848G>A p.Glu2616= p.E2616= ENST00000443617 NM_003922.3 2616 gaG/gaA 0 -HERC2 UCSF GRCh37 15 28408402 28408402 + synonymous_variant Silent SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 115 17 165 0 ENST00000261609.7:c.10584T>C p.Gly3528= p.G3528= ENST00000261609 NM_004667.5 3528 ggT/ggC 0 -HERC3 UCSF GRCh37 4 89583686 89583686 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 47 39 111 0 ENST00000402738.1:c.1251C>T p.His417= p.H417= ENST00000402738 NM_014606.2 417 caC/caT 0 -HGS UCSF GRCh37 17 79663016 79663016 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 59 18 101 0 ENST00000329138.4:c.1380G>A p.Leu460= p.L460= ENST00000329138 NM_004712.4 460 ctG/ctA 0 -HHIPL2 UCSF GRCh37 1 222721267 222721267 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 46 24 83 0 ENST00000343410.6:c.120G>A p.Gln40= p.Q40= ENST00000343410 NM_024746.3 40 caG/caA 0 -HIBADH UCSF GRCh37 7 27582634 27582634 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 47 22 83 0 ENST00000265395.2:c.570G>A p.Gly190= p.G190= ENST00000265395 NM_152740.3 190 ggG/ggA 0 -HINFP UCSF GRCh37 11 119001584 119001584 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 104 57 318 0 ENST00000350777.2:c.331C>T p.Pro111Ser p.P111S ENST00000350777 NM_198971.2 111 Ccc/Tcc 0 -HIPK1 UCSF GRCh37 1 114516014 114516014 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 243 66 329 0 ENST00000369558.1:c.3513C>T p.Ala1171= p.A1171= ENST00000369558 1171 gcC/gcT 0 -HIST1H2AH UCSF GRCh37 6 27115070 27115070 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Rec Untested WXS Illumina HiSeq 235 193 280 0 ENST00000377459.1:c.163G>C p.Val55Leu p.V55L ENST00000377459 NM_080596.2 55 Gtg/Ctg 0 -HK3 UCSF GRCh37 5 176314586 176314586 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 26 12 88 0 ENST00000292432.5:c.1466C>T p.Pro489Leu p.P489L ENST00000292432 NM_002115.2 489 cCa/cTa 0 -HLA-DQA2 UCSF GRCh37 6 32713057 32713057 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 499 67 352 0 ENST00000374940.3:c.204C>T p.Val68= p.V68= ENST00000374940 NM_020056.4 68 gtC/gtT 0 -HMOX2 UCSF GRCh37 16 4556969 4556969 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 339 50 568 0 ENST00000570646.1:c.160G>A p.Val54Ile p.V54I ENST00000570646 NM_002134.3 54 Gtc/Atc 0 -HNRNPH1 UCSF GRCh37 5 179046349 179046349 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 129 74 331 0 ENST00000356731.5:c.457G>A p.Gly153Arg p.G153R ENST00000356731 153 Ggg/Agg 0 -HOXB2 UCSF GRCh37 17 46620758 46620758 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 34 16 30 0 ENST00000330070.4:c.743C>T p.Pro248Leu p.P248L ENST00000330070 NM_002145.3 248 cCg/cTg 0 -HP1BP3 UCSF GRCh37 1 21106840 21106840 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 59 9 55 0 ENST00000312239.5:c.94G>A p.Glu32Lys p.E32K ENST00000312239 NM_016287.3 32 Gag/Aag 0 -HRNR UCSF GRCh37 1 152193713 152193713 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 285 65 301 0 ENST00000368801.2:c.392G>A p.Ser131Asn p.S131N ENST00000368801 NM_001009931.2 131 aGt/aAt 0 -HSP90AB1 UCSF GRCh37 6 44216400 44216400 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 546 86 320 0 ENST00000371554.1:c.34G>A p.Val12Met p.V12M ENST00000371554 12 Gtg/Atg 0 -HSPA4 UCSF GRCh37 5 132426984 132426984 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 191 47 246 1 ENST00000304858.2:c.1478C>A p.Ser493Tyr p.S493Y ENST00000304858 NM_002154.3 493 tCc/tAc 0 -HSPG2 UCSF GRCh37 1 22206919 22206919 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 55 13 103 0 ENST00000374695.3:c.2132C>T p.Ala711Val p.A711V ENST00000374695 NM_005529.5 711 gCc/gTc 0 -HTR7 UCSF GRCh37 10 92508880 92508880 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 36 200 1 ENST00000336152.3:c.1011C>T p.Thr337= p.T337= ENST00000336152 NM_019859.3 337 acC/acT 0 -HUWE1 UCSF GRCh37 X 53579645 53579645 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 57 28 91 0 ENST00000342160.3:c.8704G>A p.Gly2902Ser p.G2902S ENST00000342160 2902 Ggc/Agc 0 -IARS2 UCSF GRCh37 1 220273858 220273858 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 84 16 74 0 ENST00000302637.5:c.417C>T p.Phe139= p.F139= ENST00000302637 NM_018060.3 139 ttC/ttT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 30 74 126 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IDO1 UCSF GRCh37 8 39776390 39776390 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 381 65 450 0 ENST00000518237.1:c.360G>A p.Leu120= p.L120= ENST00000518237 NM_002164.5 120 ctG/ctA 0 -IFITM1 UCSF GRCh37 11 314927 314927 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 48 18 172 0 ENST00000408968.3:c.192G>A p.Arg64= p.R64= ENST00000408968 NM_003641.3 64 agG/agA 0 -IFT172 UCSF GRCh37 2 27668177 27668177 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 22 4 34 0 ENST00000260570.3:c.5054C>T p.Pro1685Leu p.P1685L ENST00000260570 NM_015662.1 1685 cCc/cTc 0 -IFT172 UCSF GRCh37 2 27704119 27704119 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 39 21 65 0 ENST00000260570.3:c.579G>A p.Leu193= p.L193= ENST00000260570 NM_015662.1 193 ttG/ttA 0 -IGSF10 UCSF GRCh37 3 151166450 151166450 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 189 50 258 0 ENST00000282466.3:c.1319G>A p.Arg440Lys p.R440K ENST00000282466 NM_178822.4 440 aGa/aAa 0 -IGSF22 UCSF GRCh37 11 18730979 18730979 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 67 49 230 0 ENST00000513874.1:c.2953G>A p.Glu985Lys p.E985K ENST00000513874 NM_173588.3 985 Gag/Aag 0 -IGSF9 UCSF GRCh37 1 159900927 159900927 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 70 23 95 1 ENST00000368094.1:c.1637+1G>A p.X546_splice ENST00000368094 NM_001135050.1 0 -IKBKAP UCSF GRCh37 9 111679912 111679912 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 207 41 185 0 ENST00000374647.5:c.779C>T p.Pro260Leu p.P260L ENST00000374647 NM_003640.3 260 cCc/cTc 0 -IKBKAP UCSF GRCh37 9 111692117 111692117 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 242 28 295 1 ENST00000374647.5:c.235G>A p.Asp79Asn p.D79N ENST00000374647 NM_003640.3 79 Gat/Aat 0 -IL10RB UCSF GRCh37 21 34648906 34648906 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 365 55 295 1 ENST00000290200.2:c.179G>A p.Arg60Lys p.R60K ENST00000290200 NM_000628.4 60 aGg/aAg 0 -INA UCSF GRCh37 10 105037185 105037185 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 31 16 73 0 ENST00000369849.4:c.217G>A p.Asp73Asn p.D73N ENST00000369849 NM_032727.3 73 Gac/Aac 0 -INA UCSF GRCh37 10 105037961 105037961 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 12 6 33 0 ENST00000369849.4:c.993G>A p.Gly331= p.G331= ENST00000369849 NM_032727.3 331 ggG/ggA 0 -INCENP UCSF GRCh37 11 61917663 61917663 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 131 32 184 0 ENST00000394818.3:c.2526C>T p.Ile842= p.I842= ENST00000394818 NM_001040694.1 842 atC/atT 0 -INF2 UCSF GRCh37 14 105169465 105169465 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 78 34 193 0 ENST00000392634.4:c.415G>A p.Val139Met p.V139M ENST00000392634 NM_022489.3 139 Gtg/Atg 0 -INO80 UCSF GRCh37 15 41289801 41289801 + splice_acceptor_variant Splice_Site SNP T T A NOVEL P21_Rec Untested WXS Illumina HiSeq 65 17 86 1 ENST00000361937.3:c.3498-2A>T p.X1166_splice ENST00000361937 0 -INO80 UCSF GRCh37 15 41313228 41313228 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 94 30 135 0 ENST00000361937.3:c.3144G>A p.Gln1048= p.Q1048= ENST00000361937 1048 caG/caA 0 -INPPL1 UCSF GRCh37 11 71948227 71948227 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Rec Untested WXS Illumina HiSeq 104 96 223 0 ENST00000298229.2:c.2939G>C p.Ser980Thr p.S980T ENST00000298229 NM_001567.3 980 aGc/aCc 0 -INSR UCSF GRCh37 19 7141710 7141710 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 110 22 148 0 ENST00000302850.5:c.2660G>A p.Ser887Asn p.S887N ENST00000302850 NM_000208.2 887 aGt/aAt 0 -INSRR UCSF GRCh37 1 156828357 156828357 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 109 23 137 0 ENST00000368195.3:c.57C>T p.Ser19= p.S19= ENST00000368195 NM_014215.2 19 tcC/tcT 0 -INTS10 UCSF GRCh37 8 19703277 19703277 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 76 21 80 0 ENST00000397977.3:c.1945G>A p.Glu649Lys p.E649K ENST00000397977 NM_018142.2 649 Gaa/Aaa 0 -INVS UCSF GRCh37 9 103054908 103054908 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 95 31 125 0 ENST00000262457.2:c.2369C>T p.Pro790Leu p.P790L ENST00000262457 NM_014425.3 790 cCc/cTc 0 -IQGAP3 UCSF GRCh37 1 156504354 156504354 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 58 10 72 0 ENST00000361170.2:c.3679G>A p.Gly1227Arg p.G1227R ENST00000361170 NM_178229.4 1227 Ggg/Agg 0 -IRAK4 UCSF GRCh37 12 44165049 44165049 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 65 27 86 0 ENST00000448290.2:c.188G>A p.Gly63Glu p.G63E ENST00000448290 NM_016123.3 63 gGa/gAa 0 -IRF2BP2 UCSF GRCh37 1 234743379 234743379 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 147 38 212 0 ENST00000366609.3:c.1268C>T p.Ser423Phe p.S423F ENST00000366609 NM_182972.2 423 tCc/tTc 0 -IRF2BPL UCSF GRCh37 14 77491854 77491854 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 96 45 169 0 ENST00000238647.3:c.2282G>A p.Gly761Glu p.G761E ENST00000238647 NM_024496.3 761 gGa/gAa 0 -IRF2BPL UCSF GRCh37 14 77492290 77492290 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 17 5 21 0 ENST00000238647.3:c.1846G>A p.Ala616Thr p.A616T ENST00000238647 NM_024496.3 616 Gcc/Acc 0 -ITGB1 UCSF GRCh37 10 33211251 33211251 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 195 58 176 0 ENST00000396033.2:c.1062G>A p.Lys354= p.K354= ENST00000396033 NM_133376.2 354 aaG/aaA 0 -ITGB2 UCSF GRCh37 21 46306818 46306818 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 113 14 112 0 ENST00000397850.2:c.2081-1G>A p.X694_splice ENST00000397850 0 -ITIH4 UCSF GRCh37 3 52848224 52848224 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 50 16 77 0 ENST00000266041.4:c.2626+1G>A p.X876_splice ENST00000266041 NM_002218.4 0 -ITIH5 UCSF GRCh37 10 7618900 7618900 + synonymous_variant Silent SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 111 58 137 0 ENST00000256861.6:c.1494C>A p.Ala498= p.A498= ENST00000256861 NM_030569.6 498 gcC/gcA 0 -JAKMIP2 UCSF GRCh37 5 147020296 147020296 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 93 49 233 0 ENST00000265272.5:c.1372C>T p.Pro458Ser p.P458S ENST00000265272 NM_014790.4 458 Cca/Tca 0 -JAM2 UCSF GRCh37 21 27071072 27071072 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 145 24 130 0 ENST00000400532.1:c.478G>A p.Gly160Arg p.G160R ENST00000400532 NM_001270408.1 160 Ggg/Agg 0 -JARID2 UCSF GRCh37 6 15496685 15496685 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 156 22 147 0 ENST00000341776.2:c.1229G>A p.Ser410Asn p.S410N ENST00000341776 NM_004973.3 410 aGt/aAt 0 -KAT6B UCSF GRCh37 10 76737107 76737107 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 98 22 140 0 ENST00000287239.4:c.2027G>A p.Ser676Asn p.S676N ENST00000287239 NM_001256468.1 676 aGt/aAt 0 -KCNH7 UCSF GRCh37 2 163302755 163302755 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 93 25 200 0 ENST00000332142.5:c.1327G>A p.Glu443Lys p.E443K ENST00000332142 NM_033272.3 443 Gaa/Aaa 0 -KCNJ14 UCSF GRCh37 19 48967778 48967778 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 121 30 147 0 ENST00000391884.1:c.1055C>T p.Thr352Ile p.T352I ENST00000391884 352 aCt/aTt 0 -KCNJ3 UCSF GRCh37 2 155711377 155711377 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 128 31 197 0 ENST00000295101.2:c.1058C>T p.Thr353Ile p.T353I ENST00000295101 NM_002239.3 353 aCc/aTc 0 -KCNMA1 UCSF GRCh37 10 78870030 78870030 + synonymous_variant Silent SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 194 82 334 0 ENST00000404857.1:c.1032T>C p.Tyr344= p.Y344= ENST00000404857 NM_001161353.1 344 taT/taC 0 -KCNQ5 UCSF GRCh37 6 73332281 73332281 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 16 7 44 0 ENST00000342056.2:c.364C>T p.Pro122Ser p.P122S ENST00000342056 NM_001160132.1 122 Ccc/Tcc 0 -KCTD15 UCSF GRCh37 19 34302256 34302256 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 31 14 60 0 ENST00000430256.3:c.492G>A p.Arg164= p.R164= ENST00000430256 164 cgG/cgA 0 -KDM4D UCSF GRCh37 11 94731128 94731128 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 115 59 318 0 ENST00000335080.5:c.592C>T p.Leu198Phe p.L198F ENST00000335080 NM_018039.2 198 Ctt/Ttt 0 -KDM5C UCSF GRCh37 X 53225875 53225875 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 36 27 78 0 ENST00000375401.3:c.2974G>A p.Glu992Lys p.E992K ENST00000375401 NM_004187.3 992 Gag/Aag 0 -KDM5D UCSF GRCh37 Y 21877842 21877842 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 50 46 106 0 ENST00000317961.4:c.2080G>A p.Glu694Lys p.E694K ENST00000317961 NM_004653.4 694 Gaa/Aaa 0 -KDM5D UCSF GRCh37 Y 21868399 21868399 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 13 11 45 0 ENST00000317961.4:c.4197G>A p.Glu1399= p.E1399= ENST00000317961 NM_004653.4 1399 gaG/gaA 0 -KIAA0020 UCSF GRCh37 9 2837245 2837245 + missense_variant Missense_Mutation SNP T T A NOVEL P21_Rec Untested WXS Illumina HiSeq 71 245 542 0 ENST00000397885.2:c.239A>T p.Asn80Ile p.N80I ENST00000397885 NM_014878.4 80 aAc/aTc 0 -KIAA0319L UCSF GRCh37 1 35944779 35944779 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 76 26 125 0 ENST00000325722.3:c.701C>T p.Thr234Ile p.T234I ENST00000325722 NM_024874.4 234 aCc/aTc 0 -KIAA0753 UCSF GRCh37 17 6531854 6531854 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 176 53 210 0 ENST00000361413.3:c.301G>A p.Val101Ile p.V101I ENST00000361413 NM_014804.2 101 Gtc/Atc 0 -KIAA0825 UCSF GRCh37 5 93775796 93775796 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 182 29 233 0 ENST00000312498.7:c.2388G>A p.Glu796= p.E796= ENST00000312498 796 gaG/gaA 0 -KIAA0889 UCSF GRCh37 20 35421664 35421664 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 73 15 82 0 ENST00000237536.4:c.4821C>T p.Val1607= p.V1607= ENST00000237536 NM_080627.2 1607 gtC/gtT 0 -KIAA1191 UCSF GRCh37 5 175774703 175774703 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 102 14 215 0 ENST00000298569.4:c.818C>T p.Pro273Leu p.P273L ENST00000298569 NM_020444.3 273 cCc/cTc 0 -KIAA1199 UCSF GRCh37 15 81201554 81201554 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 93 18 139 0 ENST00000394685.3:c.1704G>A p.Arg568= p.R568= ENST00000394685 568 agG/agA 0 -KIAA1211 UCSF GRCh37 4 57181573 57181573 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 70 8 64 0 ENST00000504228.1:c.1905G>A p.Gly635= p.G635= ENST00000504228 635 ggG/ggA 0 -KIAA1486 UCSF GRCh37 2 226378195 226378195 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 197 82 368 0 ENST00000272907.6:c.330C>T p.Cys110= p.C110= ENST00000272907 NM_020864.1 110 tgC/tgT 0 -KIAA1704 UCSF GRCh37 13 45589195 45589195 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 26 8 90 0 ENST00000361121.2:c.517G>A p.Glu173Lys p.E173K ENST00000361121 173 Gaa/Aaa 0 -KIAA2018 UCSF GRCh37 3 113376584 113376584 + synonymous_variant Silent SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 234 77 296 0 ENST00000316407.4:c.3945A>G p.Pro1315= p.P1315= ENST00000316407 NM_001009899.2 1315 ccA/ccG 0 -KIF13A UCSF GRCh37 6 17817420 17817422 + frameshift_variant Frame_Shift_Del DEL CTA CTA TT NOVEL P21_Rec Untested WXS Illumina HiSeq 30 0 ENST00000259711.6:c.1829_1831delinsAA p.Leu610GlnfsTer8 p.L610Qfs*8 ENST00000259711 NM_022113.5 610 cTAGaa/cAAaa 0 -KIF17 UCSF GRCh37 1 20991147 20991147 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 71 9 98 0 ENST00000247986.2:c.3020C>T p.Ser1007Phe p.S1007F ENST00000247986 1007 tCc/tTc 0 -KIF1B UCSF GRCh37 1 10363361 10363361 + intron_variant Intron SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 120 21 132 0 ENST00000263934.6:c.1977+6057G>A *659* ENST00000263934 NM_015074.3 0 -KIF20B UCSF GRCh37 10 91483742 91483742 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 56 11 112 0 ENST00000260753.4:c.1744G>A p.Asp582Asn p.D582N ENST00000260753 NM_016195.2 582 Gac/Aac 0 -KIF23 UCSF GRCh37 15 69737233 69737233 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 158 43 210 0 ENST00000260363.4:c.2484G>A p.Met828Ile p.M828I ENST00000260363 NM_138555.3 828 atG/atA 0 -KIF23 UCSF GRCh37 15 69738636 69738636 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 100 21 96 0 ENST00000260363.4:c.2729G>A p.Arg910Lys p.R910K ENST00000260363 NM_138555.3 910 aGa/aAa 0 -KIF6 UCSF GRCh37 6 39563952 39563952 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 98 89 98 0 ENST00000287152.7:c.724C>T p.Arg242Ter p.R242* ENST00000287152 NM_145027.4 242 Cga/Tga 0 -KIFC1 UCSF GRCh37 6 33372666 33372666 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 153 20 120 0 ENST00000428849.2:c.794G>A p.Ser265Asn p.S265N ENST00000428849 NM_002263.3 265 aGc/aAc 0 -KL UCSF GRCh37 13 33591228 33591228 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 27 3 46 0 ENST00000380099.3:c.650G>A p.Arg217Lys p.R217K ENST00000380099 NM_004795.3 217 aGg/aAg 0 -KLHDC7B UCSF GRCh37 22 50988351 50988351 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 24 4 39 0 ENST00000395676.2:c.1756C>T p.Pro586Ser p.P586S ENST00000395676 NM_138433.3 586 Cct/Tct 0 -KLHL20 UCSF GRCh37 1 173702880 173702880 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 146 29 190 0 ENST00000209884.4:c.52G>A p.Gly18Arg p.G18R ENST00000209884 NM_014458.3 18 Gga/Aga 0 -KLK3 UCSF GRCh37 19 51362853 51362853 + intron_variant Intron SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 104 25 159 0 ENST00000326003.2:c.631-375C>T *211* ENST00000326003 NM_001030047.1 0 -KLRC2 UCSF GRCh37 12 10586474 10586474 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 185 68 163 1 ENST00000381902.2:c.399G>A p.Lys133= p.K133= ENST00000381902 NM_002260.3 133 aaG/aaA 0 -KMO UCSF GRCh37 1 241755331 241755331 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 183 37 233 0 ENST00000366559.4:c.1337C>T p.Ser446Leu p.S446L ENST00000366559 NM_003679.4 446 tCa/tTa 0 -KPNA2 UCSF GRCh37 17 66040553 66040553 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 398 115 528 0 ENST00000537025.2:c.1281C>T p.Asn427= p.N427= ENST00000537025 427 aaC/aaT 0 -KPNB1 UCSF GRCh37 17 45755738 45755738 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 122 17 140 0 ENST00000290158.4:c.2312G>A p.Gly771Glu p.G771E ENST00000290158 NM_002265.5 771 gGa/gAa 0 -KRT9 UCSF GRCh37 17 39728026 39728026 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 19 12 38 0 ENST00000246662.4:c.219C>T p.Tyr73= p.Y73= ENST00000246662 NM_000226.3 73 taC/taT 0 -KRTAP4-1 UCSF GRCh37 17 39341039 39341039 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 93 37 160 0 ENST00000398472.1:c.68C>A p.Thr23Asn p.T23N ENST00000398472 23 aCc/aAc 0 -KSR1 UCSF GRCh37 17 25909824 25909824 + missense_variant Missense_Mutation SNP C C T snp132_rs34914492 P21_Rec Untested WXS Illumina HiSeq 44 14 77 0 ENST00000398988.3:c.262C>T p.Pro88Ser p.P88S ENST00000398988 NM_014238.1 88 Cca/Tca 0 -LAMA1 UCSF GRCh37 18 7023359 7023359 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 70 19 110 0 ENST00000389658.3:c.2505C>T p.Tyr835= p.Y835= ENST00000389658 NM_005559.3 835 taC/taT 0 -LAMA3 UCSF GRCh37 18 21494764 21494764 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 35 8 51 0 ENST00000313654.9:c.7584C>T p.Leu2528= p.L2528= ENST00000313654 NM_198129.1 2528 ctC/ctT 0 -LAMB4 UCSF GRCh37 7 107671346 107671346 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 163 32 228 0 ENST00000388781.3:c.4897C>T p.Leu1633= p.L1633= ENST00000388781 NM_007356.2 1633 Ctg/Ttg 0 -LETM1 UCSF GRCh37 4 1823925 1823925 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 99 11 119 0 ENST00000302787.2:c.1591G>A p.Val531Met p.V531M ENST00000302787 NM_012318.2 531 Gtg/Atg 0 -LETM1 UCSF GRCh37 4 1827392 1827392 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 61 20 74 0 ENST00000302787.2:c.1099G>A p.Val367Met p.V367M ENST00000302787 NM_012318.2 367 Gtg/Atg 0 -LGALS14 UCSF GRCh37 19 40197953 40197953 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 366 97 482 1 ENST00000360675.3:c.315G>A p.Glu105= p.E105= ENST00000360675 NM_203471.1 105 gaG/gaA 0 -LIX1L UCSF GRCh37 1 145487444 145487444 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 118 25 131 0 ENST00000369308.3:c.433G>A p.Gly145Arg p.G145R ENST00000369308 NM_153713.2 145 Gga/Aga 0 -LMOD2 UCSF GRCh37 7 123303046 123303046 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 36 16 65 0 ENST00000458573.2:c.1406C>T p.Ala469Val p.A469V ENST00000458573 NM_207163.1 469 gCc/gTc 0 -LOXL3 UCSF GRCh37 2 74779470 74779470 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 34 9 82 0 ENST00000264094.3:c.292G>A p.Ala98Thr p.A98T ENST00000264094 NM_032603.2 98 Gcc/Acc 0 -LPA UCSF GRCh37 6 160952788 160952788 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 65 40 221 0 ENST00000447678.1:c.6096G>A p.Trp2032Ter p.W2032* ENST00000447678 NM_005577.2 2032 tgG/tgA 0 -LPA UCSF GRCh37 6 161056204 161056204 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 487 62 972 0 ENST00000447678.1:c.1026G>A p.Ala342= p.A342= ENST00000447678 NM_005577.2 342 gcG/gcA 0 -LPAR3 UCSF GRCh37 1 85331417 85331417 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 456 91 694 0 ENST00000440886.1:c.387G>A p.Met129Ile p.M129I ENST00000440886 129 atG/atA 0 -LPHN3 UCSF GRCh37 4 62453029 62453029 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 97 59 235 0 ENST00000514591.1:c.140G>A p.Gly47Glu p.G47E ENST00000514591 47 gGa/gAa 0 -LRMP UCSF GRCh37 12 25232607 25232607 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 152 35 119 0 ENST00000354454.3:c.154C>T p.Leu52= p.L52= ENST00000354454 NM_006152.3 52 Ctg/Ttg 0 -LRRC19 UCSF GRCh37 9 26995558 26995558 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 39 8 46 0 ENST00000380055.5:c.1074C>T p.Asp358= p.D358= ENST00000380055 NM_022901.2 358 gaC/gaT 0 -LRRC8C UCSF GRCh37 1 90179564 90179564 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 139 41 212 0 ENST00000370454.4:c.1435G>A p.Val479Ile p.V479I ENST00000370454 NM_032270.4 479 Gtc/Atc 0 -LRRC8C UCSF GRCh37 1 90180190 90180190 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 118 34 121 0 ENST00000370454.4:c.2061C>T p.Tyr687= p.Y687= ENST00000370454 NM_032270.4 687 taC/taT 0 -LRRIQ1 UCSF GRCh37 12 85432020 85432020 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 76 21 126 0 ENST00000393217.2:c.66C>T p.Ser22= p.S22= ENST00000393217 NM_001079910.1 22 tcC/tcT 0 -LRRK2 UCSF GRCh37 12 40758823 40758823 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 143 27 136 0 ENST00000298910.7:c.7361C>T p.Ser2454Leu p.S2454L ENST00000298910 NM_198578.3 2454 tCg/tTg 0 -LRRTM2 UCSF GRCh37 5 138209046 138209046 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 163 93 440 0 ENST00000274711.6:c.1204G>A p.Gly402Ser p.G402S ENST00000274711 NM_015564.2 402 Ggc/Agc 0 -LTBP2 UCSF GRCh37 14 75078270 75078270 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.006,1000g2011may_all_0.0052 P21_Rec Untested WXS Illumina HiSeq 32 6 40 0 ENST00000261978.4:c.378C>T p.Pro126= p.P126= ENST00000261978 NM_000428.2 126 ccC/ccT 0 -LTN1 UCSF GRCh37 21 30329684 30329684 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 150 28 114 0 ENST00000389194.2:c.3000G>T p.Trp1000Cys p.W1000C ENST00000389194 NM_015565.2 1000 tgG/tgT 0 -M6PR UCSF GRCh37 12 9098119 9098119 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 169 36 199 0 ENST00000000412.3:c.238G>A p.Glu80Lys p.E80K ENST00000000412 NM_002355.3 80 Gaa/Aaa 0 -MACF1 UCSF GRCh37 1 39753082 39753082 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 334 60 462 0 ENST00000545844.1:c.1648G>A p.Ala550Thr p.A550T ENST00000545844 550 Gca/Aca 0 -MAGI2 UCSF GRCh37 7 78636498 78636498 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 77 20 132 0 ENST00000354212.4:c.326G>A p.Arg109His p.R109H ENST00000354212 NM_012301.3 109 cGt/cAt 0 -MAN2A1 UCSF GRCh37 5 109200736 109200736 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 25 110 0 ENST00000261483.4:c.3172-1G>A p.X1058_splice ENST00000261483 NM_002372.2 0 -MAP2 UCSF GRCh37 2 210560059 210560059 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 352 66 306 0 ENST00000360351.4:c.3165G>A p.Gln1055= p.Q1055= ENST00000360351 NM_002374.3 1055 caG/caA 0 -MAP3K1 UCSF GRCh37 5 56177036 56177036 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 87 17 85 0 ENST00000399503.3:c.2306C>T p.Pro769Leu p.P769L ENST00000399503 NM_005921.1 769 cCt/cTt 0 -MAP3K14 UCSF GRCh37 17 43344879 43344879 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 58 15 69 0 ENST00000344686.2:n.2326G>A *776* ENST00000344686 0 -MAP3K6 UCSF GRCh37 1 27683593 27683593 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 35 8 55 0 ENST00000493901.1:c.3271C>T p.Leu1091Phe p.L1091F ENST00000493901 NM_004672.3 1091 Ctc/Ttc 0 -MAP4K2 UCSF GRCh37 11 64557083 64557083 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 25 8 47 0 ENST00000294066.2:c.2389G>A p.Glu797Lys p.E797K ENST00000294066 NM_004579.3 797 Gag/Aag 0 -MAP4K4 UCSF GRCh37 2 102488148 102488148 + intron_variant Intron SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 90 30 173 0 ENST00000347699.4:c.2517+1271G>A *839* ENST00000347699 NM_145687.3 0 -MAP6 UCSF GRCh37 11 75299168 75299168 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 173 46 231 0 ENST00000304771.3:c.1378G>A p.Asp460Asn p.D460N ENST00000304771 NM_033063.1 460 Gac/Aac 0 -MAP7D1 UCSF GRCh37 1 36644187 36644187 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 13 4 19 0 ENST00000373151.2:c.1876G>A p.Glu626Lys p.E626K ENST00000373151 NM_018067.3 626 Gaa/Aaa 0 -MAP7D1 UCSF GRCh37 1 36638150 36638150 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 33 8 45 0 ENST00000373151.2:c.546G>A p.Leu182= p.L182= ENST00000373151 NM_018067.3 182 ctG/ctA 0 -MAPK13 UCSF GRCh37 6 36106555 36106555 + missense_variant,splice_region_variant Missense_Mutation SNP A A T NOVEL P21_Rec Untested WXS Illumina HiSeq 91 14 73 0 ENST00000211287.4:c.839A>T p.Gln280Leu p.Q280L ENST00000211287 NM_002754.4 280 cAg/cTg 0 -MAPKAPK5 UCSF GRCh37 12 112321443 112321443 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 210 73 407 0 ENST00000551404.2:c.719C>T p.Pro240Leu p.P240L ENST00000551404 240 cCt/cTt 0 -MBTPS1 UCSF GRCh37 16 84089694 84089694 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 131 30 175 0 ENST00000343411.3:c.2878G>A p.Val960Met p.V960M ENST00000343411 NM_003791.2 960 Gtg/Atg 0 -MCC UCSF GRCh37 5 112478934 112478934 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 75 17 80 0 ENST00000408903.3:c.865C>T p.Leu289= p.L289= ENST00000408903 NM_001085377.1 289 Ctg/Ttg 0 -MCM3AP UCSF GRCh37 21 47695166 47695166 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 45 14 55 0 ENST00000397708.1:c.1932G>A p.Lys644= p.K644= ENST00000397708 644 aaG/aaA 0 -MCM4 UCSF GRCh37 8 48885522 48885522 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 50 12 81 0 ENST00000262105.2:c.2034G>A p.Glu678= p.E678= ENST00000262105 NM_005914.3 678 gaG/gaA 0 -MCM6 UCSF GRCh37 2 136610432 136610432 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 79 24 112 0 ENST00000264156.2:c.1680G>A p.Glu560= p.E560= ENST00000264156 NM_005915.5 560 gaG/gaA 0 -MECOM UCSF GRCh37 3 169099279 169099279 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 112 91 176 1 ENST00000486748.1:c.143T>C p.Ile48Thr p.I48T ENST00000486748 48 aTa/aCa 0 -MED12 UCSF GRCh37 X 70341647 70341647 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 53 28 73 0 ENST00000374080.3:c.1082G>A p.Gly361Asp p.G361D ENST00000374080 361 gGc/gAc 0 -MED12 UCSF GRCh37 X 70347192 70347192 + synonymous_variant Silent SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 37 24 48 0 ENST00000374080.3:c.2856T>C p.Cys952= p.C952= ENST00000374080 952 tgT/tgC 0 -MFAP1 UCSF GRCh37 15 44109561 44109561 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 190 47 212 0 ENST00000267812.3:c.165G>A p.Glu55= p.E55= ENST00000267812 NM_005926.2 55 gaG/gaA 0 -MFHAS1 UCSF GRCh37 8 8748927 8748927 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 102 47 150 0 ENST00000276282.6:c.1642G>A p.Glu548Lys p.E548K ENST00000276282 NM_004225.2 548 Gag/Aag 0 -MFHAS1 UCSF GRCh37 8 8749257 8749257 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 86 27 151 0 ENST00000276282.6:c.1312C>T p.Pro438Ser p.P438S ENST00000276282 NM_004225.2 438 Cca/Tca 0 -MFSD8 UCSF GRCh37 4 128861044 128861044 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 34 39 127 0 ENST00000296468.3:c.662G>A p.Gly221Glu p.G221E ENST00000296468 NM_152778.2 221 gGa/gAa 0 -MICAL3 UCSF GRCh37 22 18347444 18347444 + intron_variant Intron SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 22 3 36 0 ENST00000441493.2:c.2605+221C>T *869* ENST00000441493 NM_015241.2 0 -MIER1 UCSF GRCh37 1 67411859 67411859 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 153 37 162 0 ENST00000401041.1:c.220G>A p.Glu74Lys p.E74K ENST00000401041 NM_001077700.2 74 Gaa/Aaa 0 -MIOS UCSF GRCh37 7 7646697 7646697 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 58 9 122 1 ENST00000340080.4:c.2602G>A p.Val868Ile p.V868I ENST00000340080 NM_019005.3 868 Gta/Ata 0 -MKI67 UCSF GRCh37 10 129902612 129902612 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 131 72 386 0 ENST00000368654.3:c.7492G>A p.Val2498Ile p.V2498I ENST00000368654 NM_002417.4 2498 Gtc/Atc 0 -MKRN2 UCSF GRCh37 3 12623345 12623345 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 284 76 310 0 ENST00000170447.7:c.1007C>T p.Thr336Ile p.T336I ENST00000170447 NM_014160.4 336 aCc/aTc 0 -MLF2 UCSF GRCh37 12 6861100 6861100 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 157 26 183 0 ENST00000203630.5:c.171G>A p.Arg57= p.R57= ENST00000203630 57 cgG/cgA 0 -MLL UCSF GRCh37 11 118373420 118373420 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 101 23 259 1 ENST00000534358.1:c.6813G>A p.Arg2271= p.R2271= ENST00000534358 NM_005933.3 2271 agG/agA 0 -MLL2 UCSF GRCh37 12 49443842 49443842 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 85 32 128 0 ENST00000301067.7:c.3529G>A p.Gly1177Arg p.G1177R ENST00000301067 NM_003482.3 1177 Ggg/Agg 0 -MLL3 UCSF GRCh37 7 152027799 152027799 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 92 37 178 0 ENST00000262189.6:c.276G>A p.Glu92= p.E92= ENST00000262189 NM_170606.2 92 gaG/gaA 0 -MMS19 UCSF GRCh37 10 99236698 99236698 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 150 61 336 0 ENST00000438925.2:c.516C>T p.Asp172= p.D172= ENST00000438925 NM_022362.4 172 gaC/gaT 0 -MOV10L1 UCSF GRCh37 22 50572463 50572463 + synonymous_variant Silent SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 42 8 42 0 ENST00000262794.5:c.1938A>G p.Ala646= p.A646= ENST00000262794 NM_018995.2 646 gcA/gcG 0 -MRPL39 UCSF GRCh37 21 26973701 26973701 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 89 15 84 0 ENST00000307301.7:c.499G>A p.Val167Ile p.V167I ENST00000307301 NM_080794.3 167 Gtc/Atc 0 -MRPL48 UCSF GRCh37 11 73556001 73556001 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 183 56 210 0 ENST00000310614.7:c.351C>T p.Leu117= p.L117= ENST00000310614 NM_016055.5 117 ctC/ctT 0 -MRPS18B UCSF GRCh37 6 30593516 30593516 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 234 44 198 0 ENST00000259873.4:c.719C>T p.Pro240Leu p.P240L ENST00000259873 NM_014046.3 240 cCt/cTt 0 -MRPS7 UCSF GRCh37 17 73257992 73257992 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 20 3 22 0 ENST00000245539.6:c.11C>T p.Pro4Leu p.P4L ENST00000245539 NM_015971.3 4 cCc/cTc 0 -MTERFD1 UCSF GRCh37 8 97256170 97256170 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 173 32 133 0 ENST00000287025.3:c.1036C>T p.His346Tyr p.H346Y ENST00000287025 NM_015942.3 346 Cac/Tac 0 -MTHFR UCSF GRCh37 1 11862938 11862938 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 71 20 160 0 ENST00000376592.1:c.236G>A p.Arg79Lys p.R79K ENST00000376592 79 aGg/aAg 0 -MTMR10 UCSF GRCh37 15 31253149 31253149 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 235 48 264 0 ENST00000435680.1:c.693C>T p.Ile231= p.I231= ENST00000435680 NM_017762.2 231 atC/atT 0 -MUC16 UCSF GRCh37 19 9071859 9071859 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 445 115 601 1 ENST00000397910.4:c.15587G>A p.Ser5196Asn p.S5196N ENST00000397910 NM_024690.2 5196 aGt/aAt 0 -MUC5B UCSF GRCh37 11 1264731 1264731 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 86 38 219 0 ENST00000529681.1:c.6621C>T p.Pro2207= p.P2207= ENST00000529681 NM_002458.2 2207 ccC/ccT 0 -MX1 UCSF GRCh37 21 42817417 42817417 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Rec Untested WXS Illumina HiSeq 215 46 199 0 ENST00000398600.2:c.1051C>G p.Gln351Glu p.Q351E ENST00000398600 NM_001144925.1 351 Cag/Gag 0 -MYCBP2 UCSF GRCh37 13 77844511 77844511 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 38 28 109 0 ENST00000544440.2:c.994C>T p.Gln332Ter p.Q332* ENST00000544440 332 Cag/Tag 0 -MYCBP2 UCSF GRCh37 13 77635322 77635322 + stop_gained Nonsense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 39 19 99 0 ENST00000544440.2:c.12904G>T p.Glu4302Ter p.E4302* ENST00000544440 4302 Gaa/Taa 0 -MYH1 UCSF GRCh37 17 10402076 10402076 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 153 55 255 0 ENST00000226207.5:c.4048C>T p.Gln1350Ter p.Q1350* ENST00000226207 NM_005963.3 1350 Cag/Tag 0 -MYH6 UCSF GRCh37 14 23873582 23873582 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 142 63 267 0 ENST00000405093.3:c.658C>T p.Gln220Ter p.Q220* ENST00000405093 NM_002471.3 220 Cag/Tag 0 -MYH9 UCSF GRCh37 22 36681211 36681211 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 120 30 201 0 ENST00000216181.5:c.5439G>A p.Glu1813= p.E1813= ENST00000216181 NM_002473.4 1813 gaG/gaA 0 -MYLK UCSF GRCh37 3 123333125 123333125 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Rec Untested WXS Illumina HiSeq 191 71 283 0 ENST00000360304.3:c.5572G>C p.Asp1858His p.D1858H ENST00000360304 NM_053025.3 1858 Gac/Cac 0 -MYO1C UCSF GRCh37 17 1384175 1384175 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 61 22 107 0 ENST00000359786.5:c.632C>T p.Ala211Val p.A211V ENST00000359786 NM_001080779.1 211 gCc/gTc 0 -MYO1G UCSF GRCh37 7 45005692 45005692 + missense_variant Missense_Mutation SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 41 9 78 0 ENST00000258787.7:c.2137A>G p.Ile713Val p.I713V ENST00000258787 NM_033054.2 713 Att/Gtt 0 -MYO7B UCSF GRCh37 2 128378042 128378042 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 26 15 63 0 ENST00000428314.1:c.3447+1G>A p.X1149_splice ENST00000428314 NM_001080527.1 0 -MZT2A UCSF GRCh37 2 132241665 132241665 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 101 36 196 0 ENST00000309451.6:c.446C>T p.Pro149Leu p.P149L ENST00000309451 NM_001085365.1 149 cCt/cTt 0 -N4BP2 UCSF GRCh37 4 40144355 40144355 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 78 23 144 0 ENST00000261435.6:c.4848C>T p.Tyr1616= p.Y1616= ENST00000261435 NM_018177.4 1616 taC/taT 0 -NALCN UCSF GRCh37 13 101725987 101725987 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 42 15 111 0 ENST00000251127.6:c.4146G>A p.Leu1382= p.L1382= ENST00000251127 NM_052867.2 1382 ctG/ctA 0 -NAT8L UCSF GRCh37 4 2062856 2062856 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 29 9 38 0 ENST00000423729.2:c.508G>A p.Ala170Thr p.A170T ENST00000423729 NM_178557.3 170 Gcg/Acg 0 -NBPF10 UCSF GRCh37 1 145327548 145327548 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 23 7 17 0 ENST00000342960.5:c.4105A>G p.Asn1369Asp p.N1369D ENST00000342960 NM_001039703.5 1369 Aat/Gat 0 -NCBP1 UCSF GRCh37 9 100410414 100410414 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 89 15 123 1 ENST00000375147.3:c.806C>T p.Pro269Leu p.P269L ENST00000375147 NM_002486.4 269 cCt/cTt 0 -NCOA4 UCSF GRCh37 10 51585212 51585212 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 180 70 372 0 ENST00000452682.1:c.1359G>A p.Lys453= p.K453= ENST00000452682 NM_001145260.1 453 aaG/aaA 0 -NCOR2 UCSF GRCh37 12 124885083 124885083 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 101 47 212 0 ENST00000405201.1:c.1777G>A p.Glu593Lys p.E593K ENST00000405201 593 Gag/Aag 0 -NES UCSF GRCh37 1 156641450 156641450 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 138 40 138 0 ENST00000368223.3:c.2530G>A p.Glu844Lys p.E844K ENST00000368223 NM_006617.1 844 Gaa/Aaa 0 -NET1 UCSF GRCh37 10 5494478 5494478 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 17 88 0 ENST00000355029.4:c.521G>A p.Arg174Lys p.R174K ENST00000355029 NM_001047160.2 174 aGa/aAa 0 -NFASC UCSF GRCh37 1 204948528 204948528 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 244 60 345 0 ENST00000339876.6:c.2017G>A p.Gly673Arg p.G673R ENST00000339876 NM_001005388.2 673 Ggg/Agg 0 -NFATC3 UCSF GRCh37 16 68160380 68160380 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 128 43 182 0 ENST00000346183.3:c.1268C>T p.Pro423Leu p.P423L ENST00000346183 NM_173165.2 423 cCt/cTt 0 -NFIX UCSF GRCh37 19 13184830 13184830 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 158 38 220 0 ENST00000397661.2:c.808C>T p.Pro270Ser p.P270S ENST00000397661 NM_002501.2 270 Cct/Tct 0 -NHSL1 UCSF GRCh37 6 138745224 138745224 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 20 8 54 0 ENST00000427025.2:c.4827G>A p.Glu1609= p.E1609= ENST00000427025 NM_020464.1 1609 gaG/gaA 0 -NIN UCSF GRCh37 14 51211012 51211012 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 130 48 223 0 ENST00000382041.3:c.5136G>A p.Leu1712= p.L1712= ENST00000382041 NM_016350.4 1712 ctG/ctA 0 -NKTR UCSF GRCh37 3 42679042 42679042 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 176 69 316 1 ENST00000232978.8:c.1846C>T p.Pro616Ser p.P616S ENST00000232978 NM_005385.3 616 Cct/Tct 0 -NLGN4X UCSF GRCh37 X 6069303 6069303 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 88 55 155 0 ENST00000381095.3:c.205C>T p.Pro69Ser p.P69S ENST00000381095 NM_181332.1 69 Cca/Tca 0 -NLRC3 UCSF GRCh37 16 3614574 3614574 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 59 20 109 0 ENST00000448023.2:c.505G>A p.Val169Ile p.V169I ENST00000448023 169 Gtc/Atc 0 -NLRC3 UCSF GRCh37 16 3594294 3594294 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 120 42 206 0 ENST00000448023.2:c.2945G>A p.Cys982Tyr p.C982Y ENST00000448023 982 tGt/tAt 0 -NLRP8 UCSF GRCh37 19 56467155 56467155 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 130 38 144 0 ENST00000291971.3:c.1731C>T p.Cys577= p.C577= ENST00000291971 NM_176811.2 577 tgC/tgT 0 -NOS2 UCSF GRCh37 17 26091083 26091083 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 21 8 34 0 ENST00000313735.6:c.2516C>T p.Thr839Ile p.T839I ENST00000313735 NM_000625.4 839 aCc/aTc 0 -NOTCH2 UCSF GRCh37 1 120460309 120460309 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 158 28 164 0 ENST00000256646.2:c.6006C>T p.Asn2002= p.N2002= ENST00000256646 NM_024408.3 2002 aaC/aaT 0 -NOTCH3 UCSF GRCh37 19 15289943 15289943 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 37 27 61 0 ENST00000263388.2:c.3611C>T p.Ala1204Val p.A1204V ENST00000263388 NM_000435.2 1204 gCa/gTa 0 -NOTCH4 UCSF GRCh37 6 32165142 32165142 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 115 13 109 0 ENST00000375023.3:c.4986G>A p.Gln1662= p.Q1662= ENST00000375023 NM_004557.3 1662 caG/caA 0 -NPL UCSF GRCh37 1 182797922 182797922 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 121 38 125 0 ENST00000367553.1:c.842C>T p.Pro281Leu p.P281L ENST00000367553 NM_030769.2 281 cCc/cTc 0 -NPTN UCSF GRCh37 15 73862565 73862565 + missense_variant Missense_Mutation SNP A A T NOVEL P21_Rec Untested WXS Illumina HiSeq 129 50 164 0 ENST00000345330.4:c.1040T>A p.Leu347Gln p.L347Q ENST00000345330 NM_012428.3 347 cTg/cAg 0 -NPY2R UCSF GRCh37 4 156135396 156135397 + frameshift_variant Frame_Shift_Del DEL TG TG - NOVEL P21_Rec Untested WXS Illumina HiSeq 26 0 ENST00000329476.3:c.308_309del p.Cys103SerfsTer90 p.C103Sfs*90 ENST00000329476 NM_000910.2 102 cTG/c 0 -NR0B1 UCSF GRCh37 X 30327138 30327138 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 26 3 39 0 ENST00000378970.4:c.343G>A p.Val115Met p.V115M ENST00000378970 NM_000475.4 115 Gtg/Atg 0 -NRBF2 UCSF GRCh37 10 64913831 64913831 + synonymous_variant Silent SNP C C T 1000g2011may_all_0.0014 P21_Rec Untested WXS Illumina HiSeq 61 16 110 0 ENST00000277746.6:c.717C>T p.Ala239= p.A239= ENST00000277746 NM_030759.3 239 gcC/gcT 0 -NSL1 UCSF GRCh37 1 212911796 212911796 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 174 30 161 0 ENST00000366977.3:c.800G>A p.Arg267Lys p.R267K ENST00000366977 NM_015471.3 267 aGa/aAa 0 -NT5C1B-RDH14 UCSF GRCh37 2 18736478 18736478 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 137 36 217 0 ENST00000381249.3:c.990G>A p.Val330= p.V330= ENST00000381249 NM_020905.3 330 gtG/gtA 0 -NT5E UCSF GRCh37 6 86195118 86195118 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 49 32 143 0 ENST00000257770.3:c.917A>G p.Asn306Ser p.N306S ENST00000257770 NM_002526.3 306 aAt/aGt 0 -NTRK3 UCSF GRCh37 15 88678426 88678426 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 163 44 235 0 ENST00000360948.2:c.1110C>T p.His370= p.H370= ENST00000360948 NM_001012338.2 370 caC/caT 0 -NTSR2 UCSF GRCh37 2 11798712 11798712 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 42 186 0 ENST00000306928.5:c.1126C>T p.Leu376= p.L376= ENST00000306928 NM_012344.3 376 Ctg/Ttg 0 -NUDT17 UCSF GRCh37 1 145586887 145586887 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 208 58 262 0 ENST00000334513.5:c.801G>A p.Met267Ile p.M267I ENST00000334513 NM_001012758.2 267 atG/atA 0 -NUDT9 UCSF GRCh37 4 88356236 88356236 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 53 56 142 0 ENST00000302174.4:c.211C>T p.Pro71Ser p.P71S ENST00000302174 NM_024047.4 71 Cca/Tca 0 -NUMA1 UCSF GRCh37 11 71734170 71734170 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 148 41 196 0 ENST00000393695.3:c.232C>T p.Pro78Ser p.P78S ENST00000393695 NM_006185.2 78 Cca/Tca 0 -NUMB UCSF GRCh37 14 73750804 73750804 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 87 27 194 0 ENST00000355058.3:c.934C>T p.Pro312Ser p.P312S ENST00000355058 312 Ccc/Tcc 0 -NUP133 UCSF GRCh37 1 229623317 229623317 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 139 30 158 0 ENST00000261396.3:c.1238C>T p.Ser413Leu p.S413L ENST00000261396 NM_018230.2 413 tCa/tTa 0 -NUP188 UCSF GRCh37 9 131741577 131741577 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 172 22 170 0 ENST00000372577.2:c.1240C>T p.Pro414Ser p.P414S ENST00000372577 NM_015354.2 414 Cct/Tct 0 -NUP188 UCSF GRCh37 9 131721310 131721310 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 72 10 81 0 ENST00000372577.2:c.482G>A p.Cys161Tyr p.C161Y ENST00000372577 NM_015354.2 161 tGt/tAt 0 -NUP214 UCSF GRCh37 9 134064441 134064441 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 137 20 136 0 ENST00000359428.5:c.3497G>A p.Gly1166Glu p.G1166E ENST00000359428 NM_005085.3 1166 gGg/gAg 0 -NUP93 UCSF GRCh37 16 56863004 56863004 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 143 45 154 0 ENST00000308159.5:c.910C>T p.Pro304Ser p.P304S ENST00000308159 NM_014669.4 304 Ccc/Tcc 0 -NWD1 UCSF GRCh37 19 16875883 16875883 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 45 27 98 0 ENST00000524140.2:c.2290G>A p.Gly764Ser p.G764S ENST00000524140 NM_001007525.3 764 Ggc/Agc 0 -OBSCN UCSF GRCh37 1 228520590 228520590 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 124 37 210 0 ENST00000570156.2:c.18553G>A p.Asp6185Asn p.D6185N ENST00000570156 NM_001271223.2 6185 Gat/Aat 0 -OBSL1 UCSF GRCh37 2 220430123 220430123 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 201 55 439 0 ENST00000404537.1:c.2248T>C p.Tyr750His p.Y750H ENST00000404537 NM_015311.2 750 Tac/Cac 0 -ODZ1 UCSF GRCh37 X 123519885 123519885 + synonymous_variant Silent SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 80 46 121 0 ENST00000422452.2:c.5718G>T p.Arg1906= p.R1906= ENST00000422452 NM_001163279.1 1906 cgG/cgT 0 -OLFM1 UCSF GRCh37 9 137967582 137967582 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 13 6 22 0 ENST00000252854.4:c.30C>T p.Asp10= p.D10= ENST00000252854 NM_014279.4 10 gaC/gaT 0 -OR14J1 UCSF GRCh37 6 29275388 29275388 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 255 47 181 0 ENST00000377160.2:c.922C>T p.Leu308Phe p.L308F ENST00000377160 NM_030946.1 308 Ctt/Ttt 0 -OR1G1 UCSF GRCh37 17 3030177 3030177 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 77 61 173 0 ENST00000328890.2:c.669G>A p.Ser223= p.S223= ENST00000328890 NM_003555.1 223 tcG/tcA 0 -OR2B6 UCSF GRCh37 6 27925897 27925897 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 242 28 151 0 ENST00000244623.1:c.879G>A p.Arg293= p.R293= ENST00000244623 NM_012367.1 293 agG/agA 0 -OR51I2 UCSF GRCh37 11 5474787 5474787 + synonymous_variant Silent SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 22 64 155 0 ENST00000341449.2:c.69T>C p.Ser23= p.S23= ENST00000341449 NM_001004754.2 23 tcT/tcC 0 -OR52B4 UCSF GRCh37 11 4389013 4389013 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 42 39 141 0 ENST00000408920.2:c.513C>T p.Cys171= p.C171= ENST00000408920 NM_001005161.3 171 tgC/tgT 0 -OR5AS1 UCSF GRCh37 11 55798225 55798225 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 223 57 252 0 ENST00000313555.1:c.331G>A p.Glu111Lys p.E111K ENST00000313555 NM_001001921.1 111 Gag/Aag 0 -OR5B12 UCSF GRCh37 11 58206872 58206872 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 128 25 147 1 ENST00000302572.2:c.753G>A p.Gly251= p.G251= ENST00000302572 NM_001004733.2 251 ggG/ggA 0 -OR5K3 UCSF GRCh37 3 98110426 98110426 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 60 12 43 0 ENST00000383695.1:c.917G>A p.Arg306Lys p.R306K ENST00000383695 NM_001005516.1 306 aGa/aAa 0 -OR8B4 UCSF GRCh37 11 124293998 124293998 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 51 23 133 0 ENST00000356130.3:c.770C>T p.Thr257Ile p.T257I ENST00000356130 NM_001005196.1 257 aCc/aTc 0 -OR8J1 UCSF GRCh37 11 56128341 56128341 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 168 46 183 0 ENST00000303039.3:c.619G>A p.Val207Met p.V207M ENST00000303039 NM_001005205.2 207 Gtg/Atg 0 -ORC1 UCSF GRCh37 1 52854139 52854139 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 280 33 370 0 ENST00000371568.3:c.1358C>T p.Thr453Ile p.T453I ENST00000371568 NM_001190818.1 453 aCc/aTc 0 -OSGIN2 UCSF GRCh37 8 90937737 90937737 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 137 27 92 0 ENST00000451899.2:c.1627G>A p.Gly543Arg p.G543R ENST00000451899 NM_001126111.1 543 Gga/Aga 0 -OTOGL UCSF GRCh37 12 80645976 80645976 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 262 35 424 0 ENST00000458043.2:c.1253C>T p.Pro418Leu p.P418L ENST00000458043 NM_173591.3 418 cCa/cTa 0 -OTOS UCSF GRCh37 2 241078726 241078726 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 129 18 185 0 ENST00000391989.2:c.131C>T p.Thr44Ile p.T44I ENST00000391989 44 aCc/aTc 0 -OVCH1 UCSF GRCh37 12 29630283 29630283 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 496 106 518 1 ENST00000318184.5:c.1237T>C p.Ser413Pro p.S413P ENST00000318184 NM_183378.2 413 Tca/Cca 0 -OXA1L UCSF GRCh37 14 23240692 23240692 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 212 62 327 0 ENST00000285848.5:c.1413G>A p.Lys471= p.K471= ENST00000285848 NM_005015.3 471 aaG/aaA 0 -P2RY12 UCSF GRCh37 3 151055634 151055634 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 138 41 159 0 ENST00000302632.3:c.1000G>A p.Gly334Ser p.G334S ENST00000302632 NM_022788.4 334 Ggt/Agt 0 -P2RY12 UCSF GRCh37 3 151056491 151056491 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 97 19 89 0 ENST00000302632.3:c.143G>A p.Arg48Lys p.R48K ENST00000302632 NM_022788.4 48 aGg/aAg 0 -PACSIN3 UCSF GRCh37 11 47204082 47204082 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 55 41 159 0 ENST00000539589.1:c.83G>A p.Arg28Gln p.R28Q ENST00000539589 NM_001184975.1 28 cGg/cAg 0 -PADI1 UCSF GRCh37 1 17563920 17563920 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 80 25 128 0 ENST00000375471.4:c.1425G>A p.Glu475= p.E475= ENST00000375471 NM_013358.2 475 gaG/gaA 0 -PAH UCSF GRCh37 12 103306658 103306658 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Rec Untested WXS Illumina HiSeq 100 38 174 0 ENST00000553106.1:c.79G>C p.Asp27His p.D27H ENST00000553106 NM_000277.1 27 Gac/Cac 0 -PAPPA2 UCSF GRCh37 1 176525700 176525700 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 291 66 376 1 ENST00000367662.3:c.242C>T p.Pro81Leu p.P81L ENST00000367662 NM_020318.2 81 cCc/cTc 0 -PAPSS2 UCSF GRCh37 10 89503288 89503288 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 124 18 242 0 ENST00000456849.1:c.1381G>A p.Asp461Asn p.D461N ENST00000456849 NM_001015880.1 461 Gac/Aac 0 -PC UCSF GRCh37 11 66620748 66620748 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 135 16 175 0 ENST00000393960.1:c.1475C>T p.Pro492Leu p.P492L ENST00000393960 NM_001040716.1 492 cCt/cTt 0 -PCDHB13 UCSF GRCh37 5 140595033 140595033 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 149 99 537 0 ENST00000341948.4:c.1338C>T p.Asp446= p.D446= ENST00000341948 NM_018933.2 446 gaC/gaT 0 -PCDP1 UCSF GRCh37 2 120362788 120362788 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 60 13 114 0 ENST00000413369.3:c.1056G>A p.Thr352= p.T352= ENST00000413369 NM_001271049.1 352 acG/acA 0 -PCGF5 UCSF GRCh37 10 93038059 93038059 + missense_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 62 17 101 0 ENST00000336126.5:c.757A>G p.Ile253Val p.I253V ENST00000336126 NM_032373.4 253 Att/Gtt 0 -PCSK2 UCSF GRCh37 20 17208024 17208024 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 53 41 106 0 ENST00000262545.2:c.74C>A p.Ala25Asp p.A25D ENST00000262545 NM_002594.3 25 gCt/gAt 0 -PDE11A UCSF GRCh37 2 178576529 178576529 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 35 11 84 0 ENST00000286063.6:c.2121C>T p.Asp707= p.D707= ENST00000286063 NM_016953.3 707 gaC/gaT 0 -PDGFRA UCSF GRCh37 4 55131142 55131142 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 253 689 207 0 ENST00000257290.5:c.685G>A p.Glu229Lys p.E229K ENST00000257290 NM_006206.4 229 Gaa/Aaa 0 -PDGFRB UCSF GRCh37 5 149501589 149501589 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 53 16 134 0 ENST00000261799.4:c.2198C>T p.Thr733Ile p.T733I ENST00000261799 NM_002609.3 733 aCc/aTc 0 -PDPR UCSF GRCh37 16 70176162 70176162 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 247 33 310 0 ENST00000288050.4:c.1341C>T p.Pro447= p.P447= ENST00000288050 NM_017990.3 447 ccC/ccT 0 -PEAK1 UCSF GRCh37 15 77450873 77450873 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 120 33 152 0 ENST00000560626.2:c.3303C>T p.Asn1101= p.N1101= ENST00000560626 1101 aaC/aaT 0 -PENK UCSF GRCh37 8 57354046 57354046 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 175 67 228 0 ENST00000314922.3:c.589C>T p.Pro197Ser p.P197S ENST00000314922 NM_006211.3 197 Ccc/Tcc 0 -PER3 UCSF GRCh37 1 7886742 7886742 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 59 25 99 0 ENST00000361923.2:c.2136G>A p.Arg712= p.R712= ENST00000361923 NM_016831.1 712 agG/agA 0 -PEX5 UCSF GRCh37 12 7360673 7360673 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 98 19 110 0 ENST00000434354.2:c.1223G>A p.Arg408Gln p.R408Q ENST00000434354 NM_001131023.1 408 cGg/cAg 0 -PFAS UCSF GRCh37 17 8168739 8168739 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 142 44 224 0 ENST00000314666.6:c.2414C>T p.Ser805Phe p.S805F ENST00000314666 NM_012393.2 805 tCc/tTc 0 -PFAS UCSF GRCh37 17 8172160 8172160 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 55 18 90 0 ENST00000314666.6:c.3692G>A p.Ser1231Asn p.S1231N ENST00000314666 NM_012393.2 1231 aGt/aAt 0 -PFKFB2 UCSF GRCh37 1 207240875 207240875 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 122 41 177 0 ENST00000367080.3:c.664G>A p.Gly222Ser p.G222S ENST00000367080 NM_006212.2 222 Ggc/Agc 0 -PFKFB4 UCSF GRCh37 3 48576744 48576744 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 36 11 65 0 ENST00000232375.3:c.454-1G>A p.X152_splice ENST00000232375 NM_004567.2 0 -PGP UCSF GRCh37 16 2263816 2263816 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 179 41 243 0 ENST00000333503.7:c.879G>A p.Gln293= p.Q293= ENST00000333503 NM_001042371.2 293 caG/caA 0 -PHF21A UCSF GRCh37 11 45955610 45955610 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 42 5 79 0 ENST00000418153.2:c.1952C>T p.Pro651Leu p.P651L ENST00000418153 651 cCc/cTc 0 -PHF21B UCSF GRCh37 22 45281750 45281750 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 147 48 205 0 ENST00000313237.5:c.1266C>T p.His422= p.H422= ENST00000313237 NM_138415.4 422 caC/caT 0 -PHLDB1 UCSF GRCh37 11 118495696 118495696 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 48 34 168 0 ENST00000361417.2:c.402C>T p.His134= p.H134= ENST00000361417 NM_015157.3 134 caC/caT 0 -PIGT UCSF GRCh37 20 44052855 44052855 + splice_acceptor_variant Splice_Site SNP G G A snp132_rs112243674 P21_Rec Untested WXS Illumina HiSeq 79 24 140 0 ENST00000279036.6:c.1235-1G>A p.X412_splice ENST00000279036 NM_015937.5 0 -PIKFYVE UCSF GRCh37 2 209198074 209198074 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 95 11 142 0 ENST00000264380.4:c.3999G>A p.Trp1333Ter p.W1333* ENST00000264380 NM_015040.3 1333 tgG/tgA 0 -PIWIL2 UCSF GRCh37 8 22171841 22171841 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 34 10 43 0 ENST00000356766.6:c.1990G>A p.Gly664Arg p.G664R ENST00000356766 NM_018068.3 664 Ggg/Agg 0 -PKD1 UCSF GRCh37 16 2153526 2153526 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 248 75 463 0 ENST00000262304.4:c.8532C>T p.Val2844= p.V2844= ENST00000262304 NM_001009944.2 2844 gtC/gtT 0 -PKHD1L1 UCSF GRCh37 8 110498908 110498908 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 551 75 508 0 ENST00000378402.5:c.9738G>A p.Glu3246= p.E3246= ENST00000378402 NM_177531.4 3246 gaG/gaA 0 -PKLR UCSF GRCh37 1 155269984 155269984 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 62 18 79 0 ENST00000342741.4:c.188C>T p.Ala63Val p.A63V ENST00000342741 NM_000298.5 63 gCt/gTt 0 -PKN2 UCSF GRCh37 1 89294219 89294219 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 77 16 75 0 ENST00000370521.3:c.2475C>T p.Ala825= p.A825= ENST00000370521 NM_006256.2 825 gcC/gcT 0 -PLEKHG2 UCSF GRCh37 19 39904836 39904836 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 17 6 30 0 ENST00000409794.3:c.109+1G>A p.X37_splice ENST00000409794 NM_022835.2 0 -PLEKHG3 UCSF GRCh37 14 65194574 65194574 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 24 10 51 0 ENST00000247226.7:c.225C>T p.Leu75= p.L75= ENST00000247226 NM_015549.1 75 ctC/ctT 0 -PLEKHM1 UCSF GRCh37 17 43552712 43552712 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 154 40 268 0 ENST00000430334.3:c.677C>T p.Ser226Phe p.S226F ENST00000430334 NM_014798.2 226 tCt/tTt 0 -PLOD1 UCSF GRCh37 1 12032969 12032969 + missense_variant Missense_Mutation SNP A A T NOVEL P21_Rec Untested WXS Illumina HiSeq 119 25 184 0 ENST00000196061.4:c.1943A>T p.Asp648Val p.D648V ENST00000196061 NM_000302.3 648 gAt/gTt 0 -PLSCR3 UCSF GRCh37 17 7296919 7296919 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 159 40 202 0 ENST00000535512.1:c.243+1G>A p.X81_splice ENST00000535512 0 -PLXNA1 UCSF GRCh37 3 126741603 126741603 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 170 39 301 2 ENST00000393409.2:c.4304C>T p.Ser1435Leu p.S1435L ENST00000393409 NM_032242.3 1435 tCg/tTg 0 -PML UCSF GRCh37 15 74290735 74290735 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 20 118 0 ENST00000268058.3:c.520G>A p.Val174Met p.V174M ENST00000268058 NM_033238.2 174 Gtg/Atg 0 -POLI UCSF GRCh37 18 51800296 51800296 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 115 47 174 0 ENST00000579534.1:c.242G>A p.Gly81Glu p.G81E ENST00000579534 NM_007195.2 81 gGg/gAg 0 -POLK UCSF GRCh37 5 74892598 74892598 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 78 19 74 0 ENST00000241436.4:c.2080G>A p.Glu694Lys p.E694K ENST00000241436 NM_016218.2 694 Gaa/Aaa 0 -POLN UCSF GRCh37 4 2082740 2082740 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 139 31 191 0 ENST00000511885.2:c.2332C>T p.Leu778= p.L778= ENST00000511885 778 Ctg/Ttg 0 -PON2 UCSF GRCh37 7 95039262 95039262 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 157 46 277 0 ENST00000222572.3:c.646G>A p.Ala216Thr p.A216T ENST00000222572 216 Gca/Aca 0 -POSTN UCSF GRCh37 13 38161957 38161957 + splice_donor_variant Splice_Site SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 40 33 96 0 ENST00000379747.4:c.606+2T>C p.X202_splice ENST00000379747 NM_006475.2 0 -PPFIA4 UCSF GRCh37 1 203022984 203022984 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 21 8 30 0 ENST00000272198.6:c.206G>A p.Gly69Asp p.G69D ENST00000272198 NM_015053.1 69 gGt/gAt 0 -PPFIBP1 UCSF GRCh37 12 27841986 27841986 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 216 95 245 0 ENST00000318304.8:c.2553G>T p.Gln851His p.Q851H ENST00000318304 NM_177444.2 851 caG/caT 0 -PPIB UCSF GRCh37 15 64448950 64448950 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 268 96 434 0 ENST00000300026.3:c.502G>A p.Val168Met p.V168M ENST00000300026 NM_000942.4 168 Gtg/Atg 0 -PPM1B UCSF GRCh37 2 44445214 44445214 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 54 22 73 0 ENST00000282412.4:c.1073G>A p.Gly358Asp p.G358D ENST00000282412 NM_002706.4 358 gGc/gAc 0 -PPP1R13L UCSF GRCh37 19 45889151 45889151 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 33 6 37 0 ENST00000418234.2:c.2012C>T p.Ala671Val p.A671V ENST00000418234 NM_001142502.1 671 gCc/gTc 0 -PPP2R1A UCSF GRCh37 19 52715981 52715981 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 131 47 184 0 ENST00000322088.6:c.546G>A p.Arg182= p.R182= ENST00000322088 NM_014225.5 182 cgG/cgA 0 -PPP2R2C UCSF GRCh37 4 6325083 6325083 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 93 23 152 0 ENST00000335585.5:c.1290C>T p.Ala430= p.A430= ENST00000335585 NM_181876.2 430 gcC/gcT 0 -PPWD1 UCSF GRCh37 5 64867978 64867978 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 142 39 162 0 ENST00000261308.5:c.834G>A p.Lys278= p.K278= ENST00000261308 NM_001278927.1 278 aaG/aaA 0 -PRG2 UCSF GRCh37 11 57156716 57156716 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 127 26 189 0 ENST00000311862.5:c.133G>A p.Glu45Lys p.E45K ENST00000311862 NM_002728.4 45 Gag/Aag 0 -PRKCB UCSF GRCh37 16 24135240 24135240 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 174 58 357 0 ENST00000303531.7:c.1003G>A p.Asp335Asn p.D335N ENST00000303531 NM_002738.6 335 Gac/Aac 0 -PRKD1 UCSF GRCh37 14 30194858 30194858 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 90 40 177 0 ENST00000331968.5:c.287G>A p.Gly96Glu p.G96E ENST00000331968 NM_002742.2 96 gGa/gAa 0 -PRKDC UCSF GRCh37 8 48792051 48792051 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 93 14 93 0 ENST00000314191.2:c.5232+1G>A p.X1744_splice ENST00000314191 NM_006904.6 0 -PRKDC UCSF GRCh37 8 48842573 48842573 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 122 32 131 0 ENST00000314191.2:c.1893-1G>A p.X631_splice ENST00000314191 NM_006904.6 0 -PRODH UCSF GRCh37 22 18910629 18910629 + missense_variant,splice_region_variant Missense_Mutation SNP A A G NOVEL P21_Rec Untested WXS Illumina HiSeq 131 41 201 0 ENST00000357068.6:c.731T>C p.Leu244Pro p.L244P ENST00000357068 NM_016335.4 244 cTg/cCg 0 -PRPF40B UCSF GRCh37 12 50027730 50027730 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 50 18 115 0 ENST00000548825.2:c.667C>T p.Pro223Ser p.P223S ENST00000548825 NM_001031698.2 223 Ccc/Tcc 0 -PRPF40B UCSF GRCh37 12 50035712 50035712 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 76 22 109 0 ENST00000548825.2:c.1789G>A p.Val597Met p.V597M ENST00000548825 NM_001031698.2 597 Gtg/Atg 0 -PRR12 UCSF GRCh37 19 50098109 50098109 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 15 5 20 0 ENST00000418929.2:c.517C>T p.Pro173Ser p.P173S ENST00000418929 NM_020719.1 173 Ccc/Tcc 0 -PRRC2C UCSF GRCh37 1 171510733 171510733 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.0061,snp132_rs74122867 P21_Rec Untested WXS Illumina HiSeq 192 45 241 0 ENST00000338920.4:c.4122G>A p.Gln1374= p.Q1374= ENST00000338920 NM_015172.3 1374 caG/caA 0 -PRSS3 UCSF GRCh37 9 33797843 33797843 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 418 92 659 0 ENST00000361005.5:c.388C>T p.Leu130= p.L130= ENST00000361005 NM_007343.3 130 Ctg/Ttg 0 -PSAPL1 UCSF GRCh37 4 7435437 7435437 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 148 47 233 0 ENST00000319098.4:c.1170G>A p.Glu390= p.E390= ENST00000319098 NM_001085382.1 390 gaG/gaA 0 -PSD3 UCSF GRCh37 8 18725432 18725432 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 231 62 310 0 ENST00000327040.8:c.1386G>A p.Glu462= p.E462= ENST00000327040 NM_015310.3 462 gaG/gaA 0 -PSMB1 UCSF GRCh37 6 170844403 170844403 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 63 33 213 0 ENST00000262193.6:c.631G>A p.Ala211Thr p.A211T ENST00000262193 NM_002793.3 211 Gct/Act 0 -PTCH1 UCSF GRCh37 9 98209333 98209333 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 109 27 174 0 ENST00000331920.6:c.4205C>T p.Pro1402Leu p.P1402L ENST00000331920 NM_000264.3 1402 cCt/cTt 0 -PTCHD2 UCSF GRCh37 1 11561820 11561820 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 25 14 53 0 ENST00000294484.6:c.771C>T p.Asp257= p.D257= ENST00000294484 NM_020780.1 257 gaC/gaT 0 -PTPLAD2 UCSF GRCh37 9 21026605 21026605 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 95 37 200 0 ENST00000495827.2:c.260G>A p.Arg87Lys p.R87K ENST00000495827 NM_001010915.3 87 aGg/aAg 0 -PTPRN2 UCSF GRCh37 7 157926724 157926724 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 80 24 166 0 ENST00000389418.4:c.1201G>A p.Gly401Ser p.G401S ENST00000389418 NM_002847.3 401 Ggc/Agc 0 -PUM2 UCSF GRCh37 2 20478577 20478577 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 114 57 218 0 ENST00000338086.5:c.1724G>A p.Gly575Asp p.G575D ENST00000338086 NM_015317.1 575 gGc/gAc 0 -PXDN UCSF GRCh37 2 1677534 1677534 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 302 93 630 0 ENST00000252804.4:c.899G>A p.Gly300Glu p.G300E ENST00000252804 NM_012293.1 300 gGg/gAg 0 -QSOX2 UCSF GRCh37 9 139108532 139108532 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 70 21 102 0 ENST00000358701.5:c.1123G>A p.Glu375Lys p.E375K ENST00000358701 NM_181701.3 375 Gag/Aag 0 -R3HCC1 UCSF GRCh37 8 23147752 23147752 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 18 5 16 0 ENST00000265806.6:c.61C>T p.Leu21= p.L21= ENST00000265806 NM_001136108.1 21 Ctg/Ttg 0 -RAB3GAP2 UCSF GRCh37 1 220364547 220364547 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 99 36 159 0 ENST00000358951.2:c.1350C>T p.Ser450= p.S450= ENST00000358951 NM_012414.3 450 tcC/tcT 0 -RABGAP1L UCSF GRCh37 1 174957826 174957826 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 78 19 82 0 ENST00000325589.5:c.775G>A p.Gly259Ser p.G259S ENST00000325589 259 Ggt/Agt 0 -RAD17 UCSF GRCh37 5 68692336 68692336 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 51 14 61 0 ENST00000509734.1:c.1568C>T p.Pro523Leu p.P523L ENST00000509734 523 cCc/cTc 0 -RAD21 UCSF GRCh37 8 117866648 117866648 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 309 38 266 0 ENST00000297338.2:c.997G>A p.Asp333Asn p.D333N ENST00000297338 NM_006265.2 333 Gat/Aat 0 -RAD51 UCSF GRCh37 15 40991018 40991018 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 98 32 155 0 ENST00000267868.3:c.62G>A p.Gly21Asp p.G21D ENST00000267868 NM_002875.4 21 gGc/gAc 0 -RAD54L2 UCSF GRCh37 3 51672310 51672310 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 136 50 150 0 ENST00000409535.2:c.1833C>T p.Pro611= p.P611= ENST00000409535 NM_015106.2 611 ccC/ccT 0 -RALGAPB UCSF GRCh37 20 37137727 37137727 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 176 50 246 0 ENST00000262879.6:c.748C>T p.Arg250Cys p.R250C ENST00000262879 250 Cgc/Tgc 0 -RALGDS UCSF GRCh37 9 135974021 135974021 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 110 13 127 0 ENST00000372050.3:c.2698C>T p.Pro900Ser p.P900S ENST00000372050 NM_006266.3 900 Cct/Tct 0 -RANBP3 UCSF GRCh37 19 5923259 5923259 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 98 15 139 0 ENST00000340578.6:c.1155G>A p.Leu385= p.L385= ENST00000340578 NM_007322.2 385 ttG/ttA 0 -RAP1GAP2 UCSF GRCh37 17 2908700 2908700 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 247 158 544 0 ENST00000254695.8:c.1238G>T p.Gly413Val p.G413V ENST00000254695 NM_015085.4 413 gGt/gTt 0 -RAPGEF5 UCSF GRCh37 7 22349610 22349610 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 144 64 270 0 ENST00000344041.6:c.30G>A p.Leu10= p.L10= ENST00000344041 NM_012294.3 10 ctG/ctA 0 -RASGRF1 UCSF GRCh37 15 79382719 79382719 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 246 61 324 0 ENST00000419573.3:c.122C>T p.Thr41Ile p.T41I ENST00000419573 NM_002891.4 41 aCc/aTc 0 -RASGRF1 UCSF GRCh37 15 79298560 79298560 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 151 37 240 0 ENST00000419573.3:c.2082C>T p.Ile694= p.I694= ENST00000419573 NM_002891.4 694 atC/atT 0 -RBAK UCSF GRCh37 7 5104026 5104026 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 132 56 231 0 ENST00000396912.1:c.939G>A p.Glu313= p.E313= ENST00000396912 NM_021163.3 313 gaG/gaA 0 -RBM12 UCSF GRCh37 20 34241916 34241916 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 160 37 160 0 ENST00000374114.3:c.1329C>T p.Asn443= p.N443= ENST00000374114 NM_001198838.1 443 aaC/aaT 0 -RBM15 UCSF GRCh37 1 110884780 110884780 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 145 55 201 0 ENST00000369784.3:c.2753G>A p.Gly918Glu p.G918E ENST00000369784 NM_022768.4 918 gGg/gAg 0 -RBM17 UCSF GRCh37 10 6151953 6151953 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 214 33 172 0 ENST00000446108.1:c.567C>T p.Pro189= p.P189= ENST00000446108 NM_001145547.1 189 ccC/ccT 0 -RBM26 UCSF GRCh37 13 79928639 79928639 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 67 8 123 0 ENST00000267229.7:c.1912G>A p.Gly638Ser p.G638S ENST00000267229 NM_022118.3 638 Ggt/Agt 0 -RBMS3 UCSF GRCh37 3 29476270 29476270 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 137 37 182 1 ENST00000383767.2:c.112C>A p.Pro38Thr p.P38T ENST00000383767 38 Ccc/Acc 0 -RC3H2 UCSF GRCh37 9 125659702 125659702 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 96 25 133 0 ENST00000373670.1:c.87C>T p.Ile29= p.I29= ENST00000373670 29 atC/atT 0 -RCSD1 UCSF GRCh37 1 167666688 167666688 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 19 4 31 0 ENST00000367854.3:c.827C>T p.Pro276Leu p.P276L ENST00000367854 NM_052862.3 276 cCg/cTg 0 -REV1 UCSF GRCh37 2 100024589 100024589 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 148 18 174 0 ENST00000258428.3:c.2350G>A p.Val784Ile p.V784I ENST00000258428 NM_001037872.1 784 Gta/Ata 0 -REV3L UCSF GRCh37 6 111695087 111695087 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 107 80 244 0 ENST00000358835.3:c.4471G>A p.Val1491Ile p.V1491I ENST00000358835 1491 Gta/Ata 0 -RG9MTD3 UCSF GRCh37 9 37770683 37770683 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 56 17 91 0 ENST00000297994.3:c.667G>A p.Asp223Asn p.D223N ENST00000297994 NM_144964.2 223 Gat/Aat 0 -RGS12 UCSF GRCh37 4 3318901 3318901 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 177 45 247 1 ENST00000344733.5:c.1004C>T p.Thr335Ile p.T335I ENST00000344733 NM_198229.2 335 aCt/aTt 0 -RGS14 UCSF GRCh37 5 176795777 176795777 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 15 59 136 0 ENST00000408923.3:c.909C>T p.Tyr303= p.Y303= ENST00000408923 NM_006480.4 303 taC/taT 0 -RHAG UCSF GRCh37 6 49604443 49604443 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0042,snp132_rs114042395 P21_Rec Untested WXS Illumina HiSeq 368 52 259 0 ENST00000371175.4:c.83C>T p.Thr28Met p.T28M ENST00000371175 NM_000324.2 28 aCg/aTg 0 -RHBDF2 UCSF GRCh37 17 74470598 74470598 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 67 27 113 0 ENST00000313080.4:c.1408G>A p.Gly470Arg p.G470R ENST00000313080 NM_024599.5 470 Ggg/Agg 0 -RHOB UCSF GRCh37 2 20647261 20647261 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 34 15 84 0 ENST00000272233.4:c.35G>A p.Gly12Asp p.G12D ENST00000272233 NM_004040.2 12 gGc/gAc 0 -RHOT2 UCSF GRCh37 16 722944 722944 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 98 36 153 0 ENST00000315082.4:c.1544G>A p.Gly515Glu p.G515E ENST00000315082 NM_138769.2 515 gGg/gAg 0 -RIMS1 UCSF GRCh37 6 73110251 73110251 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 119 35 332 0 ENST00000521978.1:c.4914G>A p.Val1638= p.V1638= ENST00000521978 NM_014989.5 1638 gtG/gtA 0 -RIN2 UCSF GRCh37 20 19956118 19956118 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 141 32 259 0 ENST00000255006.6:c.1596G>A p.Arg532= p.R532= ENST00000255006 NM_018993.3 532 agG/agA 0 -RNF19B UCSF GRCh37 1 33407982 33407982 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 88 37 132 0 ENST00000373456.7:c.1484C>T p.Thr495Ile p.T495I ENST00000373456 NM_153341.2 495 aCt/aTt 0 -RNF20 UCSF GRCh37 9 104303258 104303258 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 76 31 134 0 ENST00000389120.3:c.628+1G>A p.X210_splice ENST00000389120 NM_019592.6 0 -RNF212 UCSF GRCh37 4 1087248 1087248 + intron_variant Intron SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 53 7 66 0 ENST00000433731.2:c.247-2622G>A *83* ENST00000433731 0 -RNF26 UCSF GRCh37 11 119206973 119206973 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 91 12 172 0 ENST00000311413.4:c.1141G>A p.Val381Ile p.V381I ENST00000311413 NM_032015.4 381 Gtc/Atc 0 -RNF43 UCSF GRCh37 17 56434896 56434896 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 118 40 186 1 ENST00000407977.2:c.2241G>A p.Trp747Ter p.W747* ENST00000407977 747 tgG/tgA 0 -RNGTT UCSF GRCh37 6 89673110 89673110 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 21 9 59 0 ENST00000369485.4:c.19C>T p.Pro7Ser p.P7S ENST00000369485 NM_003800.3 7 Ccg/Tcg 0 -RNMTL1 UCSF GRCh37 17 686449 686449 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 149 26 173 0 ENST00000304478.4:c.441C>T p.Ser147= p.S147= ENST00000304478 NM_018146.2 147 agC/agT 0 -ROBO2 UCSF GRCh37 3 77638066 77638066 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 114 82 181 0 ENST00000487694.3:c.2713G>A p.Gly905Arg p.G905R ENST00000487694 NM_001128929.2 905 Gga/Aga 0 -ROR2 UCSF GRCh37 9 94487067 94487067 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 109 24 171 0 ENST00000375708.3:c.1709C>T p.Pro570Leu p.P570L ENST00000375708 NM_004560.3 570 cCg/cTg 0 -RPP25 UCSF GRCh37 15 75248436 75248436 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 23 9 23 0 ENST00000322177.5:c.489G>A p.Pro163= p.P163= ENST00000322177 NM_017793.2 163 ccG/ccA 0 -RREB1 UCSF GRCh37 6 7248786 7248786 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 121 20 148 0 ENST00000379938.2:c.4814C>T p.Thr1605Ile p.T1605I ENST00000379938 NM_001003700.1 1605 aCc/aTc 0 -RRM2 UCSF GRCh37 2 10263567 10263567 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 45 18 98 0 ENST00000360566.2:c.408C>T p.Asn136= p.N136= ENST00000360566 NM_001165931.1 136 aaC/aaT 0 -RRP1B UCSF GRCh37 21 45103245 45103245 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 98 13 94 0 ENST00000340648.4:c.882C>T p.Pro294= p.P294= ENST00000340648 NM_015056.2 294 ccC/ccT 0 -RRP36 UCSF GRCh37 6 42996950 42996950 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 515 61 297 0 ENST00000244496.5:c.764C>T p.Pro255Leu p.P255L ENST00000244496 NM_033112.2 255 cCt/cTt 0 -RTN4RL2 UCSF GRCh37 11 57235467 57235467 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 112 39 182 0 ENST00000335099.3:c.417C>T p.Tyr139= p.Y139= ENST00000335099 NM_178570.2 139 taC/taT 0 -RUNDC1 UCSF GRCh37 17 41143444 41143444 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 132 34 218 0 ENST00000361677.1:c.1553C>T p.Thr518Ile p.T518I ENST00000361677 NM_173079.2 518 aCa/aTa 0 -RYR3 UCSF GRCh37 15 34049710 34049710 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 53 11 85 0 ENST00000389232.4:c.8618G>A p.Ser2873Asn p.S2873N ENST00000389232 NM_001036.3 2873 aGt/aAt 0 -SAFB2 UCSF GRCh37 19 5594077 5594077 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 11 4 25 0 ENST00000252542.4:c.2032G>A p.Glu678Lys p.E678K ENST00000252542 NM_014649.2 678 Gag/Aag 0 -SAMD8 UCSF GRCh37 10 76936330 76936330 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 110 33 194 0 ENST00000542569.1:c.1128G>A p.Arg376= p.R376= ENST00000542569 NM_144660.2 376 agG/agA 0 -SAP130 UCSF GRCh37 2 128750879 128750879 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 185 51 280 0 ENST00000357702.5:c.1437G>A p.Pro479= p.P479= ENST00000357702 NM_001145928.1 479 ccG/ccA 0 -SARS UCSF GRCh37 1 109777933 109777933 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 160 55 234 0 ENST00000234677.2:c.849G>A p.Glu283= p.E283= ENST00000234677 NM_006513.3 283 gaG/gaA 0 -SART1 UCSF GRCh37 11 65746346 65746346 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 146 26 187 0 ENST00000312397.5:c.2345C>T p.Pro782Leu p.P782L ENST00000312397 NM_005146.4 782 cCc/cTc 0 -SART1 UCSF GRCh37 11 65743865 65743865 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 22 8 35 0 ENST00000312397.5:c.1573-1G>A p.X525_splice ENST00000312397 NM_005146.4 0 -SBNO1 UCSF GRCh37 12 123798194 123798194 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 32 18 45 0 ENST00000420886.2:c.3193C>T p.Pro1065Ser p.P1065S ENST00000420886 NM_001167856.1 1065 Cca/Tca 0 -SCAF11 UCSF GRCh37 12 46357889 46357889 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 23 7 30 0 ENST00000369367.3:c.61+1G>A p.X21_splice ENST00000369367 NM_004719.2 0 -SCAF4 UCSF GRCh37 21 33058004 33058004 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 33 53 62 0 ENST00000286835.7:c.2086C>T p.Gln696Ter p.Q696* ENST00000286835 NM_020706.2 696 Cag/Tag 0 -SCAF8 UCSF GRCh37 6 155145444 155145444 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 79 45 221 0 ENST00000367178.3:c.2003C>T p.Pro668Leu p.P668L ENST00000367178 NM_014892.3 668 cCt/cTt 0 -SCARA3 UCSF GRCh37 8 27516386 27516386 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 64 9 95 0 ENST00000301904.3:c.699G>T p.Trp233Cys p.W233C ENST00000301904 NM_016240.2 233 tgG/tgT 0 -SCN11A UCSF GRCh37 3 38924723 38924723 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 77 13 136 0 ENST00000302328.3:c.3219+1G>A p.X1073_splice ENST00000302328 NM_014139.2 0 -SCN3B UCSF GRCh37 11 123513277 123513277 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 87 13 190 0 ENST00000392770.2:c.322C>T p.Leu108Phe p.L108F ENST00000392770 NM_018400.3 108 Ctc/Ttc 0 -SCNM1 UCSF GRCh37 1 151139625 151139625 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 251 58 314 0 ENST00000368905.4:c.240G>A p.Gln80= p.Q80= ENST00000368905 NM_024041.3 80 caG/caA 0 -SCPEP1 UCSF GRCh37 17 55078335 55078335 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 187 58 266 0 ENST00000262288.3:c.1114C>T p.Leu372Phe p.L372F ENST00000262288 NM_021626.2 372 Ctc/Ttc 0 -SCUBE2 UCSF GRCh37 11 9052337 9052337 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 99 41 270 0 ENST00000520467.1:c.2138G>A p.Gly713Glu p.G713E ENST00000520467 NM_020974.2 713 gGa/gAa 0 -SCYL2 UCSF GRCh37 12 100723044 100723044 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 69 12 77 0 ENST00000360820.2:c.1708G>A p.Val570Met p.V570M ENST00000360820 NM_017988.4 570 Gtg/Atg 0 -SCYL3 UCSF GRCh37 1 169847817 169847817 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 151 39 203 0 ENST00000367772.4:c.309G>A p.Gly103= p.G103= ENST00000367772 NM_181093.3 103 ggG/ggA 0 -SEMA6A UCSF GRCh37 5 115808768 115808768 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 199 54 225 0 ENST00000343348.6:c.1729+1G>A p.X577_splice ENST00000343348 NM_020796.3 0 -SEMA6A UCSF GRCh37 5 115814408 115814408 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 217 66 292 0 ENST00000343348.6:c.1257C>T p.Arg419= p.R419= ENST00000343348 NM_020796.3 419 cgC/cgT 0 -SERTAD1 UCSF GRCh37 19 40929159 40929159 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 18 3 27 0 ENST00000357949.4:c.295G>A p.Val99Met p.V99M ENST00000357949 NM_013376.3 99 Gtg/Atg 0 -SETD5 UCSF GRCh37 3 9512549 9512549 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 299 61 247 0 ENST00000402198.1:c.3131C>T p.Pro1044Leu p.P1044L ENST00000402198 NM_001080517.1 1044 cCt/cTt 0 -SETD5 UCSF GRCh37 3 9485095 9485095 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 92 14 90 0 ENST00000402198.1:c.1181G>A p.Ser394Asn p.S394N ENST00000402198 NM_001080517.1 394 aGt/aAt 0 -SETD6 UCSF GRCh37 16 58550503 58550503 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 68 22 102 0 ENST00000219315.4:c.598C>T p.Pro200Ser p.P200S ENST00000219315 200 Ccc/Tcc 0 -SF3B3 UCSF GRCh37 16 70601401 70601401 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 106 21 123 1 ENST00000302516.5:c.2914C>T p.Leu972= p.L972= ENST00000302516 NM_012426.4 972 Ctg/Ttg 0 -SFXN2 UCSF GRCh37 10 104491966 104491966 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 62 29 152 0 ENST00000369893.5:c.712C>T p.Pro238Ser p.P238S ENST00000369893 NM_178858.4 238 Cct/Tct 0 -SGOL1 UCSF GRCh37 3 20216193 20216193 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 87 23 112 0 ENST00000263753.4:c.830C>T p.Ser277Phe p.S277F ENST00000263753 NM_001012410.3 277 tCt/tTt 0 -SGSM3 UCSF GRCh37 22 40803205 40803205 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 93 22 126 0 ENST00000248929.9:c.1241G>A p.Gly414Glu p.G414E ENST00000248929 NM_015705.4 414 gGg/gAg 0 -SHANK2 UCSF GRCh37 11 70332736 70332736 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 25 122 0 ENST00000338508.4:c.3665C>T p.Ser1222Phe p.S1222F ENST00000338508 1222 tCc/tTc 0 -SHBG UCSF GRCh37 17 7534144 7534144 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 79 9 121 0 ENST00000380450.4:c.350C>T p.Thr117Met p.T117M ENST00000380450 NM_001040.3 117 aCg/aTg 0 -SHMT2 UCSF GRCh37 12 57627415 57627415 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 77 33 166 0 ENST00000328923.3:c.1093C>T p.Leu365= p.L365= ENST00000328923 NM_005412.5 365 Ctg/Ttg 0 -SI UCSF GRCh37 3 164777734 164777734 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 257 77 302 0 ENST00000264382.3:c.1102G>A p.Val368Met p.V368M ENST00000264382 NM_001041.3 368 Gtg/Atg 0 -SIAH3 UCSF GRCh37 13 46358136 46358136 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 23 18 114 0 ENST00000400405.2:c.192C>T p.His64= p.H64= ENST00000400405 NM_198849.2 64 caC/caT 0 -SIDT1 UCSF GRCh37 3 113331041 113331041 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 85 27 99 0 ENST00000264852.4:c.1966G>A p.Asp656Asn p.D656N ENST00000264852 NM_017699.2 656 Gat/Aat 0 -SLC10A2 UCSF GRCh37 13 103698539 103698539 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 48 6 108 0 ENST00000245312.3:c.991G>A p.Glu331Lys p.E331K ENST00000245312 NM_000452.2 331 Gag/Aag 0 -SLC10A4 UCSF GRCh37 4 48490831 48490831 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 79 20 88 0 ENST00000273861.4:c.1189G>A p.Asp397Asn p.D397N ENST00000273861 NM_152679.3 397 Gat/Aat 0 -SLC12A1 UCSF GRCh37 15 48539196 48539196 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0029 P21_Rec Untested WXS Illumina HiSeq 310 199 501 0 ENST00000396577.3:c.1543G>A p.Ala515Thr p.A515T ENST00000396577 NM_001184832.1 515 Gca/Aca 0 -SLC12A6 UCSF GRCh37 15 34533453 34533453 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 35 10 40 0 ENST00000354181.3:c.2248C>A p.Pro750Thr p.P750T ENST00000354181 750 Cca/Aca 0 -SLC17A2 UCSF GRCh37 6 25917232 25917232 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 189 36 141 0 ENST00000360488.3:c.733G>A p.Glu245Lys p.E245K ENST00000360488 NM_005835.2 245 Gaa/Aaa 0 -SLC24A5 UCSF GRCh37 15 48428997 48428997 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 136 37 146 0 ENST00000341459.3:c.708C>T p.Ala236= p.A236= ENST00000341459 NM_205850.2 236 gcC/gcT 0 -SLC25A14 UCSF GRCh37 X 129506898 129506898 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 126 100 210 0 ENST00000218197.5:c.952G>A p.Glu318Lys p.E318K ENST00000218197 NM_022810.1 318 Gag/Aag 0 -SLC25A25 UCSF GRCh37 9 130869597 130869597 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 147 33 211 0 ENST00000373068.2:c.1386G>A p.Arg462= p.R462= ENST00000373068 NM_001006641.3 462 cgG/cgA 0 -SLC26A8 UCSF GRCh37 6 35927270 35927270 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 269 54 195 0 ENST00000490799.1:c.1830C>T p.Phe610= p.F610= ENST00000490799 NM_052961.3 610 ttC/ttT 0 -SLC27A3 UCSF GRCh37 1 153750305 153750305 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 106 23 175 0 ENST00000368661.3:c.1246G>A p.Val416Met p.V416M ENST00000368661 NM_024330.1 416 Gtg/Atg 0 -SLC28A1 UCSF GRCh37 15 85438637 85438637 + intron_variant Intron SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 62 28 86 0 ENST00000394573.1:c.461+283C>T *154* ENST00000394573 NM_004213.3 0 -SLC29A4 UCSF GRCh37 7 5340179 5340179 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 162 61 343 0 ENST00000396872.3:c.1336C>T p.Pro446Ser p.P446S ENST00000396872 446 Ccc/Tcc 0 -SLC30A1 UCSF GRCh37 1 211749269 211749269 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 178 48 241 1 ENST00000367001.4:c.985C>T p.Leu329Phe p.L329F ENST00000367001 NM_021194.2 329 Ctt/Ttt 0 -SLC30A6 UCSF GRCh37 2 32445766 32445766 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 68 42 167 0 ENST00000379343.2:c.1490G>A p.Gly497Glu p.G497E ENST00000379343 NM_001193513.1 497 gGa/gAa 0 -SLC35G1 UCSF GRCh37 10 95661083 95661083 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 92 18 144 0 ENST00000427197.1:c.934G>A p.Gly312Arg p.G312R ENST00000427197 NM_001134658.1 312 Ggg/Agg 0 -SLC41A2 UCSF GRCh37 12 105199074 105199074 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 259 30 390 1 ENST00000258538.3:c.1578C>T p.His526= p.H526= ENST00000258538 NM_032148.3 526 caC/caT 0 -SLC4A4 UCSF GRCh37 4 72222843 72222843 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 81 54 244 0 ENST00000425175.1:c.669C>T p.Ser223= p.S223= ENST00000425175 NM_001134742.1 223 tcC/tcT 0 -SLC5A6 UCSF GRCh37 2 27423865 27423865 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 62 13 112 0 ENST00000310574.3:c.1764+1G>A p.X588_splice ENST00000310574 NM_021095.2 0 -SLC6A11 UCSF GRCh37 3 10970906 10970906 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 261 43 322 0 ENST00000254488.2:c.1252C>T p.Leu418= p.L418= ENST00000254488 NM_014229.1 418 Ctg/Ttg 0 -SLC6A17 UCSF GRCh37 1 110741056 110741056 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 93 34 134 0 ENST00000331565.4:c.2174C>T p.Ser725Leu p.S725L ENST00000331565 NM_001010898.2 725 tCg/tTg 0 -SLC7A5 UCSF GRCh37 16 87874719 87874719 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 28 154 0 ENST00000261622.4:c.707C>T p.Thr236Ile p.T236I ENST00000261622 NM_003486.5 236 aCc/aTc 0 -SLC9A1 UCSF GRCh37 1 27426843 27426843 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 26 137 0 ENST00000263980.3:c.2403C>T p.His801= p.H801= ENST00000263980 NM_003047.4 801 caC/caT 0 -SLCO1B1 UCSF GRCh37 12 21350030 21350030 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 376 57 275 1 ENST00000256958.2:c.878C>T p.Ser293Leu p.S293L ENST00000256958 NM_006446.4 293 tCa/tTa 0 -SLCO1B7 UCSF GRCh37 12 21201727 21201727 + missense_variant Missense_Mutation SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 178 26 108 0 ENST00000421593.2:c.1076G>T p.Gly359Val p.G359V ENST00000421593 NM_001009562.4 359 gGa/gTa 0 -SLITRK2 UCSF GRCh37 X 144905522 144905522 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 66 42 138 0 ENST00000370490.1:c.1579C>T p.Gln527Ter p.Q527* ENST00000370490 527 Cag/Tag 0 -SMC2 UCSF GRCh37 9 106880459 106880459 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 112 18 133 0 ENST00000286398.7:c.1799C>T p.Pro600Leu p.P600L ENST00000286398 NM_006444.2 600 cCt/cTt 0 -SMG7 UCSF GRCh37 1 183514090 183514090 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 222 36 262 0 ENST00000507469.1:c.1875C>T p.Ile625= p.I625= ENST00000507469 NM_201569.2 625 atC/atT 0 -SMG9 UCSF GRCh37 19 44251951 44251951 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 55 10 53 0 ENST00000270066.6:c.324G>A p.Lys108= p.K108= ENST00000270066 NM_019108.2 108 aaG/aaA 0 -SMOC1 UCSF GRCh37 14 70418989 70418989 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 113 33 226 0 ENST00000361956.3:c.234C>T p.Thr78= p.T78= ENST00000361956 78 acC/acT 0 -SMOX UCSF GRCh37 20 4155907 4155907 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 102 36 162 0 ENST00000305958.4:c.205C>T p.Leu69Phe p.L69F ENST00000305958 NM_175839.2 69 Ctt/Ttt 0 -SNF8 UCSF GRCh37 17 47010644 47010644 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 125 32 169 0 ENST00000502492.1:c.487G>A p.Val163Met p.V163M ENST00000502492 163 Gtg/Atg 0 -SNIP1 UCSF GRCh37 1 38005897 38005897 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 151 47 214 0 ENST00000296215.6:c.787C>T p.Pro263Ser p.P263S ENST00000296215 NM_024700.3 263 Cca/Tca 0 -SNRPD2 UCSF GRCh37 19 46191721 46191721 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 176 45 217 0 ENST00000342669.3:c.106G>A p.Val36Ile p.V36I ENST00000342669 NM_004597.5 36 Gtc/Atc 0 -SNTG1 UCSF GRCh37 8 51362269 51362269 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 35 16 44 0 ENST00000522124.1:c.261C>T p.Ile87= p.I87= ENST00000522124 NM_018967.2 87 atC/atT 0 -SNUPN UCSF GRCh37 15 75890747 75890747 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 152 44 193 0 ENST00000564644.1:c.1035G>A p.Lys345= p.K345= ENST00000564644 345 aaG/aaA 0 -SORBS3 UCSF GRCh37 8 22423953 22423953 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 170 19 209 0 ENST00000240123.7:c.1046C>T p.Pro349Leu p.P349L ENST00000240123 NM_005775.4 349 cCc/cTc 0 -SOS2 UCSF GRCh37 14 50585328 50585328 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 81 27 144 0 ENST00000216373.5:c.3733G>A p.Asp1245Asn p.D1245N ENST00000216373 NM_006939.2 1245 Gat/Aat 0 -SPAG11B UCSF GRCh37 8 7320250 7320250 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 173 32 503 0 ENST00000398462.2:c.193C>T p.Pro65Ser p.P65S ENST00000398462 NM_058201.2 65 Ccg/Tcg 0 -SPAG17 UCSF GRCh37 1 118565973 118565973 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 79 21 111 0 ENST00000336338.5:c.4023G>A p.Gln1341= p.Q1341= ENST00000336338 NM_206996.2 1341 caG/caA 0 -SPAG9 UCSF GRCh37 17 49083481 49083481 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 238 60 306 0 ENST00000262013.7:c.1389G>A p.Glu463= p.E463= ENST00000262013 NM_001130528.2 463 gaG/gaA 0 -SPEN UCSF GRCh37 1 16259115 16259115 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 176 57 303 0 ENST00000375759.3:c.6380C>T p.Pro2127Leu p.P2127L ENST00000375759 NM_015001.2 2127 cCc/cTc 0 -SPON1 UCSF GRCh37 11 14287095 14287095 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 60 32 148 0 ENST00000310358.7:n.2821C>T *941* ENST00000310358 0 -SPRED2 UCSF GRCh37 2 65571911 65571911 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 35 12 95 0 ENST00000356388.4:c.146C>T p.Pro49Leu p.P49L ENST00000356388 NM_181784.2 49 cCc/cTc 0 -SRRM3 UCSF GRCh37 7 75915110 75915110 + 3_prime_UTR_variant 3'UTR SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 9 6 16 0 ENST00000326382.8:c.*117C>T *39* ENST00000326382 NM_001110199.1 0 -SRSF4 UCSF GRCh37 1 29475117 29475117 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 341 47 508 0 ENST00000373795.4:c.1290G>A p.Glu430= p.E430= ENST00000373795 NM_005626.4 430 gaG/gaA 0 -SRSF7 UCSF GRCh37 2 38977222 38977222 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 121 41 188 0 ENST00000313117.6:c.143G>A p.Gly48Glu p.G48E ENST00000313117 NM_001195446.1 48 gGa/gAa 0 -SSC5D UCSF GRCh37 19 56009384 56009384 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 52 13 55 0 ENST00000389623.6:c.1525G>A p.Gly509Ser p.G509S ENST00000389623 NM_001144950.1 509 Ggc/Agc 0 -SSPN UCSF GRCh37 12 26377228 26377228 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 348 65 304 0 ENST00000242729.2:c.282C>T p.Val94= p.V94= ENST00000242729 NM_005086.4 94 gtC/gtT 0 -SSPO UCSF GRCh37 7 149489775 149489775 + non_coding_transcript_exon_variant RNA SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 43 12 100 0 ENST00000378016.2:n.5831G>T *1944* ENST00000378016 0 -STAM UCSF GRCh37 10 17750927 17750927 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 158 42 160 0 ENST00000377524.3:c.1362G>A p.Gln454= p.Q454= ENST00000377524 NM_003473.3 454 caG/caA 0 -STBD1 UCSF GRCh37 4 77228007 77228007 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 11 6 30 0 ENST00000237642.6:c.85G>A p.Asp29Asn p.D29N ENST00000237642 NM_003943.4 29 Gac/Aac 0 -STK4 UCSF GRCh37 20 43629817 43629817 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 85 19 112 0 ENST00000372806.3:c.970G>A p.Glu324Lys p.E324K ENST00000372806 NM_006282.2 324 Gaa/Aaa 0 -STRA6 UCSF GRCh37 15 74473662 74473662 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 37 6 46 0 ENST00000563965.1:c.1775C>T p.Pro592Leu p.P592L ENST00000563965 592 cCa/cTa 0 -SUFU UCSF GRCh37 10 104309744 104309744 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 133 44 256 0 ENST00000369902.3:c.335G>A p.Gly112Glu p.G112E ENST00000369902 NM_016169.3 112 gGa/gAa 0 -SUMF1 UCSF GRCh37 3 4452646 4452646 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 150 29 175 0 ENST00000272902.5:c.857C>T p.Pro286Leu p.P286L ENST00000272902 NM_182760.3 286 cCc/cTc 0 -SUPV3L1 UCSF GRCh37 10 70949130 70949130 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 117 14 143 0 ENST00000359655.4:c.680G>A p.Gly227Glu p.G227E ENST00000359655 NM_003171.3 227 gGa/gAa 0 -SVEP1 UCSF GRCh37 9 113151837 113151837 + missense_variant Missense_Mutation SNP T T C 1000g2011may_all_0.0014 P21_Rec Untested WXS Illumina HiSeq 133 107 239 0 ENST00000401783.2:c.9853A>G p.Arg3285Gly p.R3285G ENST00000401783 NM_153366.3 3285 Aga/Gga 0 -SVIL UCSF GRCh37 10 29822130 29822130 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 151 30 189 0 ENST00000375398.2:c.1166C>T p.Ser389Phe p.S389F ENST00000375398 389 tCt/tTt 0 -SYCE1 UCSF GRCh37 10 135369192 135369192 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 21 17 74 0 ENST00000343131.5:c.739C>T p.His247Tyr p.H247Y ENST00000343131 NM_001143764.1 247 Cac/Tac 0 -SYMPK UCSF GRCh37 19 46352083 46352083 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 108 66 179 0 ENST00000245934.7:c.351C>T p.Leu117= p.L117= ENST00000245934 NM_004819.2 117 ctC/ctT 0 -SYNJ1 UCSF GRCh37 21 34067381 34067381 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 272 35 211 0 ENST00000433931.2:c.808G>A p.Val270Ile p.V270I ENST00000433931 NM_003895.3 270 Gta/Ata 0 -SYNPO UCSF GRCh37 5 150028638 150028638 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 31 16 92 0 ENST00000394243.1:c.1533G>A p.Glu511= p.E511= ENST00000394243 NM_001166208.1 511 gaG/gaA 0 -TAF1 UCSF GRCh37 X 70618489 70618489 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 38 21 78 0 ENST00000276072.3:c.3748G>A p.Glu1250Lys p.E1250K ENST00000276072 1250 Gag/Aag 0 -TAF1L UCSF GRCh37 9 32633675 32633675 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 200 54 240 0 ENST00000242310.4:c.1903C>T p.His635Tyr p.H635Y ENST00000242310 NM_153809.2 635 Cat/Tat 0 -TAP1 UCSF GRCh37 6 32816791 32816791 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 43 8 30 0 ENST00000354258.4:c.1533G>A p.Gln511= p.Q511= ENST00000354258 NM_000593.5 511 caG/caA 0 -TARBP1 UCSF GRCh37 1 234534285 234534285 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 66 18 75 0 ENST00000040877.1:c.4086C>T p.Ile1362= p.I1362= ENST00000040877 NM_005646.3 1362 atC/atT 0 -TAS2R30 UCSF GRCh37 12 11286352 11286352 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 525 110 535 0 ENST00000539585.1:c.492G>A p.Trp164Ter p.W164* ENST00000539585 NM_001097643.1 164 tgG/tgA 0 -TBC1D10A UCSF GRCh37 22 30722783 30722783 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 27 10 36 0 ENST00000403477.3:c.88C>T p.Pro30Ser p.P30S ENST00000403477 NM_001204240.1 30 Ccc/Tcc 0 -TBCB UCSF GRCh37 19 36611642 36611642 + missense_variant Missense_Mutation SNP G G C NOVEL P21_Rec Untested WXS Illumina HiSeq 53 11 68 0 ENST00000221855.3:c.289G>C p.Glu97Gln p.E97Q ENST00000221855 NM_001281.2 97 Gag/Cag 0 -TBP UCSF GRCh37 6 170876034 170876034 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 18 9 68 0 ENST00000392092.2:c.614G>A p.Arg205Lys p.R205K ENST00000392092 NM_003194.4 205 aGa/aAa 0 -TBX10 UCSF GRCh37 11 67399796 67399796 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 100 27 136 0 ENST00000335385.3:c.861G>A p.Arg287= p.R287= ENST00000335385 NM_005995.4 287 agG/agA 0 -TCEB3 UCSF GRCh37 1 24078002 24078002 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.00094 P21_Rec Untested WXS Illumina HiSeq 137 34 206 0 ENST00000418390.2:c.985G>A p.Asp329Asn p.D329N ENST00000418390 NM_003198.2 329 Gac/Aac 0 -TCOF1 UCSF GRCh37 5 149756077 149756077 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 24 8 52 0 ENST00000504761.2:c.2234G>A p.Gly745Glu p.G745E ENST00000504761 745 gGg/gAg 0 -TDP1 UCSF GRCh37 14 90458304 90458304 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 52 14 89 0 ENST00000335725.4:c.1410G>A p.Gln470= p.Q470= ENST00000335725 NM_018319.3 470 caG/caA 0 -TDRD1 UCSF GRCh37 10 115986970 115986970 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 79 28 185 0 ENST00000251864.2:c.3315G>A p.Glu1105= p.E1105= ENST00000251864 NM_198795.1 1105 gaG/gaA 0 -TET1 UCSF GRCh37 10 70427014 70427014 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 45 5 53 0 ENST00000373644.4:c.4673+1G>A p.X1558_splice ENST00000373644 NM_030625.2 0 -TEX2 UCSF GRCh37 17 62290570 62290570 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 117 37 140 0 ENST00000258991.3:c.1008G>A p.Gly336= p.G336= ENST00000258991 NM_001288732.1 336 ggG/ggA 0 -TFEB UCSF GRCh37 6 41658886 41658886 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 26 6 17 0 ENST00000230323.4:c.66G>A p.Arg22= p.R22= ENST00000230323 NM_007162.2 22 cgG/cgA 0 -TFG UCSF GRCh37 3 100438827 100438827 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 59 13 80 0 ENST00000240851.4:c.193C>T p.Leu65Phe p.L65F ENST00000240851 NM_001195478.1 65 Ctt/Ttt 0 -THAP6 UCSF GRCh37 4 76442089 76442089 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 38 38 121 0 ENST00000311638.3:c.188C>T p.Ser63Leu p.S63L ENST00000311638 NM_144721.4 63 tCg/tTg 0 -THBS1 UCSF GRCh37 15 39882761 39882761 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 92 26 107 0 ENST00000260356.5:c.2190C>T p.Asp730= p.D730= ENST00000260356 NM_003246.2 730 gaC/gaT 0 -THRA UCSF GRCh37 17 38242972 38242972 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 94 25 117 0 ENST00000264637.4:c.589G>A p.Gly197Ser p.G197S ENST00000264637 NM_003250.5 197 Ggc/Agc 0 -THSD4 UCSF GRCh37 15 72030269 72030269 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 132 27 229 0 ENST00000355327.3:c.1829C>T p.Pro610Leu p.P610L ENST00000355327 610 cCg/cTg 0 -THSD7A UCSF GRCh37 7 11632897 11632897 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 236 51 411 0 ENST00000423059.4:c.1255G>A p.Val419Ile p.V419I ENST00000423059 NM_015204.2 419 Gtt/Att 0 -THSD7A UCSF GRCh37 7 11632919 11632919 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 237 36 422 0 ENST00000423059.4:c.1233C>T p.Pro411= p.P411= ENST00000423059 NM_015204.2 411 ccC/ccT 0 -THUMPD2 UCSF GRCh37 2 39982434 39982434 + splice_donor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 38 21 57 0 ENST00000505747.1:c.1078+1G>A p.X360_splice ENST00000505747 NM_025264.4 0 -TIGD3 UCSF GRCh37 11 65124305 65124305 + missense_variant Missense_Mutation SNP C C A NOVEL P21_Rec Untested WXS Illumina HiSeq 99 22 129 0 ENST00000309880.5:c.1026C>A p.His342Gln p.H342Q ENST00000309880 NM_145719.2 342 caC/caA 0 -TIMP3 UCSF GRCh37 22 33253331 33253331 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 117 17 163 0 ENST00000266085.6:c.300C>T p.Tyr100= p.Y100= ENST00000266085 NM_000362.4 100 taC/taT 0 -TLE2 UCSF GRCh37 19 3011090 3011090 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 13 6 34 0 ENST00000262953.6:c.942C>T p.Thr314= p.T314= ENST00000262953 NM_003260.4 314 acC/acT 0 -TLR9 UCSF GRCh37 3 52255337 52255337 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 116 26 172 0 ENST00000360658.2:c.2995C>T p.Pro999Ser p.P999S ENST00000360658 NM_017442.3 999 Ccc/Tcc 0 -TMBIM6 UCSF GRCh37 12 50146858 50146858 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 61 25 144 0 ENST00000423828.1:c.333C>T p.Phe111= p.F111= ENST00000423828 NM_001098576.1 111 ttC/ttT 0 -TMC3 UCSF GRCh37 15 81627309 81627309 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 162 42 253 0 ENST00000359440.5:c.2211C>T p.Ile737= p.I737= ENST00000359440 NM_001080532.1 737 atC/atT 0 -TMC6 UCSF GRCh37 17 76122611 76122611 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 37 11 66 0 ENST00000590602.1:c.175G>A p.Val59Met p.V59M ENST00000590602 59 Gtg/Atg 0 -TMCO4 UCSF GRCh37 1 20066374 20066374 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 81 35 119 0 ENST00000294543.6:c.1122C>T p.Leu374= p.L374= ENST00000294543 NM_181719.4 374 ctC/ctT 0 -TMEM106B UCSF GRCh37 7 12258127 12258127 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 33 14 43 0 ENST00000396667.3:c.261G>A p.Gln87= p.Q87= ENST00000396667 NM_018374.3 87 caG/caA 0 -TMEM237 UCSF GRCh37 2 202503751 202503751 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 72 18 116 0 ENST00000409883.2:c.97C>T p.Arg33Cys p.R33C ENST00000409883 NM_001044385.2 33 Cgt/Tgt 0 -TMEM74 UCSF GRCh37 8 109796670 109796670 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 123 19 122 0 ENST00000297459.3:c.658G>A p.Glu220Lys p.E220K ENST00000297459 NM_153015.1 220 Gag/Aag 0 -TMPRSS15 UCSF GRCh37 21 19685352 19685352 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 163 32 163 0 ENST00000284885.3:c.2075G>A p.Arg692Gln p.R692Q ENST00000284885 NM_002772.2 692 cGg/cAg 0 -TMPRSS15 UCSF GRCh37 21 19687538 19687538 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 108 26 117 0 ENST00000284885.3:c.1957G>A p.Gly653Arg p.G653R ENST00000284885 NM_002772.2 653 Gga/Aga 0 -TMTC2 UCSF GRCh37 12 83290098 83290098 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 240 77 402 0 ENST00000321196.3:c.1156C>T p.Gln386Ter p.Q386* ENST00000321196 NM_152588.1 386 Cag/Tag 0 -TMTC4 UCSF GRCh37 13 101288914 101288914 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 56 29 230 0 ENST00000342624.5:c.1074G>A p.Trp358Ter p.W358* ENST00000342624 NM_032813.2 358 tgG/tgA 0 -TNFRSF10A UCSF GRCh37 8 23082424 23082424 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 19 5 23 0 ENST00000221132.3:c.151G>A p.Gly51Ser p.G51S ENST00000221132 NM_003844.3 51 Ggc/Agc 0 -TNFRSF1A UCSF GRCh37 12 6439070 6439070 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 22 8 21 0 ENST00000162749.2:c.931C>T p.Arg311Cys p.R311C ENST00000162749 NM_001065.3 311 Cgc/Tgc 0 -TNFRSF8 UCSF GRCh37 1 12198444 12198444 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 31 4 58 0 ENST00000263932.2:c.1494G>A p.Arg498= p.R498= ENST00000263932 NM_001243.3 498 agG/agA 0 -TNKS1BP1 UCSF GRCh37 11 57088121 57088121 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 30 6 43 0 ENST00000532437.1:c.160C>T p.Pro54Ser p.P54S ENST00000532437 54 Cct/Tct 0 -TNPO3 UCSF GRCh37 7 128610265 128610265 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 165 68 295 0 ENST00000265388.5:c.2535C>T p.Leu845= p.L845= ENST00000265388 845 ctC/ctT 0 -TNRC6A UCSF GRCh37 16 24826609 24826609 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 67 21 91 0 ENST00000395799.3:c.4814G>A p.Ser1605Asn p.S1605N ENST00000395799 NM_014494.2 1605 aGt/aAt 0 -TNRC6B UCSF GRCh37 22 40681770 40681770 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 339 73 405 0 ENST00000454349.2:c.3704C>T p.Pro1235Leu p.P1235L ENST00000454349 NM_001162501.1 1235 cCc/cTc 0 -TOM1L2 UCSF GRCh37 17 17786035 17786035 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 116 28 153 0 ENST00000379504.3:c.644C>T p.Thr215Ile p.T215I ENST00000379504 NM_001082968.1 215 aCa/aTa 0 -TOPBP1 UCSF GRCh37 3 133331320 133331320 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 164 37 206 0 ENST00000260810.5:c.3948G>A p.Glu1316= p.E1316= ENST00000260810 NM_007027.3 1316 gaG/gaA 0 -TOPBP1 UCSF GRCh37 3 133375522 133375522 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 237 59 234 0 ENST00000260810.5:c.543G>A p.Glu181= p.E181= ENST00000260810 NM_007027.3 181 gaG/gaA 0 -TOR2A UCSF GRCh37 9 130496642 130496642 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 62 19 70 0 ENST00000373284.5:c.353C>T p.Pro118Leu p.P118L ENST00000373284 NM_001085347.2 118 cCc/cTc 0 -TP53 UCSF GRCh37 17 7578388 7578388 + missense_variant Missense_Mutation SNP C C G NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 53 43 127 0 ENST00000269305.4:c.542G>C p.Arg181Pro p.R181P ENST00000269305 NM_001126112.2 181 cGc/cCc 0 -TP53 UCSF GRCh37 17 7577121 7577121 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 58 44 129 0 ENST00000269305.4:c.817C>T p.Arg273Cys p.R273C ENST00000269305 NM_001126112.2 273 Cgt/Tgt 0 -TP53 UCSF GRCh37 17 7579434 7579434 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec somatic WXS Sanger Illumina HiSeq 152 59 241 0 ENST00000269305.4:c.253C>T p.Pro85Ser p.P85S ENST00000269305 NM_001126112.2 85 Cct/Tct 0 -TPM4 UCSF GRCh37 19 16186900 16186900 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 24 3 31 0 ENST00000538887.1:c.158C>T p.Thr53Ile p.T53I ENST00000538887 53 aCa/aTa 0 -TPO UCSF GRCh37 2 1507752 1507752 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 68 25 136 0 ENST00000345913.4:c.2419C>T p.Pro807Ser p.P807S ENST00000345913 NM_000547.5 807 Ccc/Tcc 0 -TPTE2 UCSF GRCh37 13 20056662 20056662 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 63 26 189 0 ENST00000400230.2:c.145G>A p.Glu49Lys p.E49K ENST00000400230 49 Gaa/Aaa 0 -TRHDE UCSF GRCh37 12 72771831 72771831 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 73 15 75 0 ENST00000261180.4:c.1110C>T p.Leu370= p.L370= ENST00000261180 NM_013381.2 370 ctC/ctT 0 -TRIM14 UCSF GRCh37 9 100850237 100850237 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 13 4 17 0 ENST00000341469.2:c.844C>T p.Leu282= p.L282= ENST00000341469 NM_014788.2 282 Ctg/Ttg 0 -TRIM28 UCSF GRCh37 19 59059517 59059517 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 316 77 457 0 ENST00000253024.5:c.1071C>T p.Asn357= p.N357= ENST00000253024 NM_005762.2 357 aaC/aaT 0 -TRIM44 UCSF GRCh37 11 35706878 35706878 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 29 23 111 0 ENST00000299413.5:c.741C>T p.Asp247= p.D247= ENST00000299413 NM_017583.4 247 gaC/gaT 0 -TRIOBP UCSF GRCh37 22 38151613 38151613 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 107 30 156 0 ENST00000406386.3:c.5634G>A p.Trp1878Ter p.W1878* ENST00000406386 NM_001039141.2 1878 tgG/tgA 0 -TRMT12 UCSF GRCh37 8 125464397 125464397 + missense_variant Missense_Mutation SNP T T C NOVEL P21_Rec Untested WXS Illumina HiSeq 175 27 153 0 ENST00000328599.3:c.1229T>C p.Val410Ala p.V410A ENST00000328599 NM_017956.3 410 gTg/gCg 0 -TRO UCSF GRCh37 X 54949475 54949475 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 50 13 70 0 ENST00000173898.7:c.510G>A p.Leu170= p.L170= ENST00000173898 NM_001039705.2 170 ttG/ttA 0 -TRPS1 UCSF GRCh37 8 116426892 116426892 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 315 48 228 0 ENST00000395715.3:c.3244G>A p.Glu1082Lys p.E1082K ENST00000395715 NM_014112.2 1082 Gaa/Aaa 0 -TSFM UCSF GRCh37 12 58190181 58190181 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 41 10 60 0 ENST00000323833.8:c.856C>T p.Pro286Ser p.P286S ENST00000323833 NM_001172696.1 286 Ccc/Tcc 0 -TSHZ3 UCSF GRCh37 19 31768293 31768293 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 157 31 216 0 ENST00000240587.4:c.2406C>T p.Ser802= p.S802= ENST00000240587 NM_020856.2 802 tcC/tcT 0 -TSPAN3 UCSF GRCh37 15 77339196 77339196 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 17 4 35 0 ENST00000267970.4:c.743C>T p.Thr248Ile p.T248I ENST00000267970 NM_001168412.1 248 aCt/aTt 0 -TST UCSF GRCh37 22 37414267 37414267 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 53 13 69 0 ENST00000403892.3:c.507G>A p.Leu169= p.L169= ENST00000403892 NM_001270483.1 169 ctG/ctA 0 -TTC17 UCSF GRCh37 11 43469637 43469637 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 50 40 158 0 ENST00000039989.4:c.2751G>A p.Val917= p.V917= ENST00000039989 NM_018259.5 917 gtG/gtA 0 -TTC21B UCSF GRCh37 2 166756331 166756331 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 50 23 91 0 ENST00000243344.7:c.2817G>A p.Arg939= p.R939= ENST00000243344 NM_024753.4 939 cgG/cgA 0 -TTC21B UCSF GRCh37 2 166797655 166797655 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 81 25 128 0 ENST00000243344.7:c.592C>T p.Leu198= p.L198= ENST00000243344 NM_024753.4 198 Ctg/Ttg 0 -TTC4 UCSF GRCh37 1 55207137 55207137 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 161 28 216 0 ENST00000371281.3:c.1115C>T p.Pro372Leu p.P372L ENST00000371281 NM_004623.4 372 cCt/cTt 0 -TTK UCSF GRCh37 6 80736183 80736183 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 80 39 229 0 ENST00000369798.2:c.1346C>T p.Ser449Phe p.S449F ENST00000369798 NM_003318.4 449 tCt/tTt 0 -TTN UCSF GRCh37 2 179560080 179560080 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 68 25 127 0 ENST00000589042.1:c.31265C>T p.Pro10422Leu p.P10422L ENST00000589042 NM_001267550.1 10422 cCt/cTt 0 -TTN UCSF GRCh37 2 179427207 179427207 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 223 75 385 0 ENST00000589042.1:c.83652G>A p.Trp27884Ter p.W27884* ENST00000589042 NM_001267550.1 27884 tgG/tgA 0 -TUBAL3 UCSF GRCh37 10 5436278 5436278 + synonymous_variant Silent SNP G G T NOVEL P21_Rec Untested WXS Illumina HiSeq 115 57 142 0 ENST00000380419.3:c.543C>A p.Ala181= p.A181= ENST00000380419 NM_024803.2 181 gcC/gcA 0 -TUFT1 UCSF GRCh37 1 151546806 151546806 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 73 21 93 0 ENST00000368849.3:c.655G>A p.Glu219Lys p.E219K ENST00000368849 NM_020127.2 219 Gag/Aag 0 -TXNDC12 UCSF GRCh37 1 52489209 52489209 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 107 30 144 0 ENST00000371626.4:c.393G>A p.Glu131= p.E131= ENST00000371626 NM_015913.3 131 gaG/gaA 0 -TXNDC16 UCSF GRCh37 14 52899137 52899137 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 103 28 155 1 ENST00000281741.4:c.2363G>A p.Arg788Lys p.R788K ENST00000281741 NM_020784.2 788 aGa/aAa 0 -TXNDC5 UCSF GRCh37 6 7884664 7884664 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 174 38 213 0 ENST00000379757.4:c.1104C>T p.Phe368= p.F368= ENST00000379757 NM_030810.3 368 ttC/ttT 0 -TYMP UCSF GRCh37 22 50967706 50967706 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 74 18 102 0 ENST00000395681.1:c.276C>T p.Thr92= p.T92= ENST00000395681 92 acC/acT 0 -TYW1B UCSF GRCh37 7 72178679 72178679 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 121 41 330 0 ENST00000343721.5:c.148C>T p.Pro50Ser p.P50S ENST00000343721 50 Cca/Tca 0 -TYW5 UCSF GRCh37 2 200798002 200798002 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 79 29 132 0 ENST00000354611.4:c.736G>A p.Val246Met p.V246M ENST00000354611 NM_001039693.2 246 Gtg/Atg 0 -U2AF2 UCSF GRCh37 19 56171880 56171880 + splice_acceptor_variant Splice_Site SNP A A C NOVEL P21_Rec Untested WXS Illumina HiSeq 18 6 28 1 ENST00000308924.4:c.231-2A>C p.X77_splice ENST00000308924 0 -U2SURP UCSF GRCh37 3 142735817 142735817 + splice_region_variant,synonymous_variant Splice_Region SNP T T A NOVEL P21_Rec Untested WXS Illumina HiSeq 158 26 167 0 ENST00000473835.2:c.570T>A p.Pro190= p.P190= ENST00000473835 NM_001080415.1 190 ccT/ccA 0 -UBE4B UCSF GRCh37 1 10221321 10221321 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 101 27 141 0 ENST00000343090.6:c.3175G>A p.Glu1059Lys p.E1059K ENST00000343090 NM_001105562.2 1059 Gaa/Aaa 0 -UBFD1 UCSF GRCh37 16 23570865 23570865 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 97 24 134 0 ENST00000395878.3:c.432G>A p.Val144= p.V144= ENST00000395878 NM_019116.2 144 gtG/gtA 0 -UBOX5 UCSF GRCh37 20 3102943 3102943 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 113 16 133 0 ENST00000217173.2:c.342G>A p.Ala114= p.A114= ENST00000217173 NM_001267584.1 114 gcG/gcA 0 -UGDH UCSF GRCh37 4 39511429 39511429 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.003,1000g2011may_all_0.0022 P21_Rec Untested WXS Illumina HiSeq 92 15 114 1 ENST00000316423.6:c.762G>A p.Ala254= p.A254= ENST00000316423 NM_001184701.1 254 gcG/gcA 0 -UGP2 UCSF GRCh37 2 64109776 64109776 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 99 41 173 1 ENST00000337130.5:c.432G>A p.Gln144= p.Q144= ENST00000337130 NM_006759.3 144 caG/caA 0 -UMODL1 UCSF GRCh37 21 43543178 43543178 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 113 15 151 0 ENST00000408989.2:c.3449C>T p.Pro1150Leu p.P1150L ENST00000408989 NM_173568.3 1150 cCc/cTc 0 -UNC13B UCSF GRCh37 9 35385781 35385781 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 151 45 184 0 ENST00000378495.3:c.2689C>T p.Leu897= p.L897= ENST00000378495 NM_006377.3 897 Ctg/Ttg 0 -UNC79 UCSF GRCh37 14 94063753 94063753 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 135 29 241 0 ENST00000256339.4:c.2708C>T p.Thr903Ile p.T903I ENST00000256339 NM_020818.3 903 aCc/aTc 0 -UNC80 UCSF GRCh37 2 210840926 210840926 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 30 21 92 0 ENST00000439458.1:c.8473C>T p.Leu2825= p.L2825= ENST00000439458 NM_032504.1 2825 Ctg/Ttg 0 -UNKL UCSF GRCh37 16 1416349 1416349 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 10 5 29 0 ENST00000389221.4:c.1935G>A p.Arg645= p.R645= ENST00000389221 NM_001193388.3 645 cgG/cgA 0 -URM1 UCSF GRCh37 9 131140376 131140376 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 305 87 432 0 ENST00000452446.1:c.97G>A p.Glu33Lys p.E33K ENST00000452446 NM_001135947.2 33 Gag/Aag 0 -UROC1 UCSF GRCh37 3 126211359 126211359 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 39 6 60 0 ENST00000383579.3:c.1690G>A p.Val564Met p.V564M ENST00000383579 NM_001165974.1 564 Gtg/Atg 0 -USP15 UCSF GRCh37 12 62688014 62688014 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 77 16 87 0 ENST00000280377.5:c.144C>T p.Asp48= p.D48= ENST00000280377 NM_001252078.1 48 gaC/gaT 0 -USP24 UCSF GRCh37 1 55591349 55591349 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 112 36 179 0 ENST00000294383.6:c.3718C>T p.Leu1240= p.L1240= ENST00000294383 NM_015306.2 1240 Cta/Tta 0 -USP4 UCSF GRCh37 3 49316274 49316274 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 228 59 342 1 ENST00000265560.4:c.2706G>A p.Val902= p.V902= ENST00000265560 NM_003363.3 902 gtG/gtA 0 -VARS UCSF GRCh37 6 31759704 31759704 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 53 6 49 0 ENST00000375663.3:c.916G>A p.Glu306Lys p.E306K ENST00000375663 NM_006295.2 306 Gag/Aag 0 -VARS UCSF GRCh37 6 31747218 31747218 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 74 9 39 0 ENST00000375663.3:c.3384C>T p.Thr1128= p.T1128= ENST00000375663 NM_006295.2 1128 acC/acT 0 -VPRBP UCSF GRCh37 3 51440745 51440745 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 294 90 442 0 ENST00000423656.1:c.3010C>T p.Leu1004= p.L1004= ENST00000423656 1004 Ctg/Ttg 0 -VPS13C UCSF GRCh37 15 62202505 62202505 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 44 8 57 0 ENST00000261517.5:c.8716-1G>A p.X2906_splice ENST00000261517 NM_020821.2 0 -VPS37C UCSF GRCh37 11 60900006 60900006 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 40 14 76 0 ENST00000301765.5:c.354G>A p.Met118Ile p.M118I ENST00000301765 NM_017966.4 118 atG/atA 0 -VPS41 UCSF GRCh37 7 38835080 38835080 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 87 28 196 0 ENST00000310301.4:c.702G>A p.Trp234Ter p.W234* ENST00000310301 NM_014396.3 234 tgG/tgA 0 -VWC2 UCSF GRCh37 7 49951759 49951759 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 66 11 130 0 ENST00000340652.4:c.956G>A p.Arg319Lys p.R319K ENST00000340652 NM_198570.3 319 aGa/aAa 0 -WAPAL UCSF GRCh37 10 88259980 88259980 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 200 66 406 0 ENST00000298767.5:c.1020G>A p.Gly340= p.G340= ENST00000298767 NM_015045.2 340 ggG/ggA 0 -WBP2NL UCSF GRCh37 22 42418293 42418293 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 117 34 150 0 ENST00000328823.9:c.447C>T p.Phe149= p.F149= ENST00000328823 NM_152613.2 149 ttC/ttT 0 -WDHD1 UCSF GRCh37 14 55408278 55408278 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 68 21 85 0 ENST00000360586.3:c.3320C>T p.Ser1107Phe p.S1107F ENST00000360586 NM_007086.3 1107 tCt/tTt 0 -WDR19 UCSF GRCh37 4 39206875 39206875 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 228 45 204 0 ENST00000399820.3:c.705C>T p.Val235= p.V235= ENST00000399820 NM_025132.3 235 gtC/gtT 0 -WDR33 UCSF GRCh37 2 128463960 128463960 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 161 55 310 0 ENST00000322313.4:c.3948G>A p.Gly1316= p.G1316= ENST00000322313 NM_018383.4 1316 ggG/ggA 0 -WDR34 UCSF GRCh37 9 131403107 131403107 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 79 22 124 0 ENST00000372715.2:c.298C>T p.Pro100Ser p.P100S ENST00000372715 NM_052844.3 100 Ccg/Tcg 0 -WDR35 UCSF GRCh37 2 20166556 20166556 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 61 22 118 0 ENST00000345530.3:c.1123G>A p.Gly375Ser p.G375S ENST00000345530 NM_001006657.1 375 Ggt/Agt 0 -WDR36 UCSF GRCh37 5 110445982 110445982 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 218 48 229 0 ENST00000506538.2:c.1589G>A p.Gly530Glu p.G530E ENST00000506538 NM_139281.2 530 gGa/gAa 0 -WDR60 UCSF GRCh37 7 158718922 158718922 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 123 42 235 0 ENST00000407559.3:c.2302G>A p.Val768Ile p.V768I ENST00000407559 NM_018051.4 768 Gta/Ata 0 -WDR7 UCSF GRCh37 18 54363620 54363620 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 102 25 187 0 ENST00000254442.3:c.1505G>A p.Gly502Glu p.G502E ENST00000254442 NM_015285.2 502 gGa/gAa 0 -WDR7 UCSF GRCh37 18 54385293 54385293 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 91 28 160 0 ENST00000254442.3:c.1677C>T p.His559= p.H559= ENST00000254442 NM_015285.2 559 caC/caT 0 -WNK2 UCSF GRCh37 9 96010058 96010058 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 14 6 26 0 ENST00000297954.4:c.1776G>A p.Pro592= p.P592= ENST00000297954 NM_001282394.1 592 ccG/ccA 0 -WNK2 UCSF GRCh37 9 96051290 96051290 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 28 7 40 0 ENST00000297954.4:c.4365G>A p.Gly1455= p.G1455= ENST00000297954 NM_001282394.1 1455 ggG/ggA 0 -WT1 UCSF GRCh37 11 32456391 32456391 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 13 4 26 0 ENST00000332351.3:c.501G>A p.Gln167= p.Q167= ENST00000332351 NM_024426.4 167 caG/caA 0 -XAB2 UCSF GRCh37 19 7687515 7687515 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 70 21 113 0 ENST00000358368.4:c.1404G>A p.Glu468= p.E468= ENST00000358368 NM_020196.2 468 gaG/gaA 0 -XAB2 UCSF GRCh37 19 7692635 7692635 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 159 31 186 0 ENST00000358368.4:c.303G>A p.Arg101= p.R101= ENST00000358368 NM_020196.2 101 agG/agA 0 -XIRP2 UCSF GRCh37 2 168106609 168106609 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 105 44 179 0 ENST00000409195.1:c.8707G>A p.Gly2903Ser p.G2903S ENST00000409195 NM_152381.5 2903 Ggc/Agc 0 -XKR6 UCSF GRCh37 8 11058163 11058163 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 17 9 51 0 ENST00000416569.2:c.686G>A p.Gly229Glu p.G229E ENST00000416569 NM_173683.3 229 gGg/gAg 0 -YAF2 UCSF GRCh37 12 42555550 42555550 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 49 6 98 0 ENST00000442791.3:c.242C>T p.Ser81Phe p.S81F ENST00000442791 NM_001190979.1 81 tCc/tTc 0 -YLPM1 UCSF GRCh37 14 75295966 75295966 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 252 53 423 0 ENST00000325680.7:c.6214G>A p.Ala2072Thr p.A2072T ENST00000325680 NM_019589.2 2072 Gcc/Acc 0 -YWHAZ UCSF GRCh37 8 101932975 101932975 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 117 15 112 0 ENST00000395957.2:c.684G>A p.Trp228Ter p.W228* ENST00000395957 228 tgG/tgA 0 -ZACN UCSF GRCh37 17 74078655 74078655 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 105 20 136 0 ENST00000334586.5:c.1160G>A p.Gly387Glu p.G387E ENST00000334586 NM_180990.3 387 gGa/gAa 0 -ZBTB9 UCSF GRCh37 6 33423368 33423368 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 290 38 212 0 ENST00000395064.2:c.491C>T p.Ser164Phe p.S164F ENST00000395064 NM_152735.3 164 tCc/tTc 0 -ZEB1 UCSF GRCh37 10 31784732 31784732 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 273 46 279 0 ENST00000361642.5:c.287G>A p.Gly96Glu p.G96E ENST00000361642 NM_001174093.1 96 gGg/gAg 0 -ZFHX3 UCSF GRCh37 16 72821920 72821920 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 68 27 111 0 ENST00000268489.5:c.10255C>T p.Pro3419Ser p.P3419S ENST00000268489 NM_006885.3 3419 Ccc/Tcc 0 -ZFHX4 UCSF GRCh37 8 77766808 77766808 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 250 87 398 0 ENST00000521891.2:c.7651C>T p.Leu2551= p.L2551= ENST00000521891 NM_024721.4 2551 Ctg/Ttg 0 -ZFPM2 UCSF GRCh37 8 106813523 106813523 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 517 58 505 0 ENST00000407775.2:c.1213G>A p.Glu405Lys p.E405K ENST00000407775 NM_012082.3 405 Gaa/Aaa 0 -ZFPM2 UCSF GRCh37 8 106813752 106813752 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 443 84 453 0 ENST00000407775.2:c.1442C>T p.Ser481Leu p.S481L ENST00000407775 NM_012082.3 481 tCa/tTa 0 -ZFYVE26 UCSF GRCh37 14 68282603 68282603 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 105 21 176 0 ENST00000347230.4:c.78G>A p.Arg26= p.R26= ENST00000347230 NM_015346.3 26 agG/agA 0 -ZFYVE9 UCSF GRCh37 1 52811748 52811748 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 110 36 184 0 ENST00000287727.3:c.4133G>A p.Gly1378Glu p.G1378E ENST00000287727 NM_004799.3 1378 gGg/gAg 0 -ZHX2 UCSF GRCh37 8 123964106 123964106 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 252 45 236 1 ENST00000314393.4:c.356C>T p.Thr119Ile p.T119I ENST00000314393 NM_014943.3 119 aCc/aTc 0 -ZHX3 UCSF GRCh37 20 39833299 39833299 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 188 39 202 0 ENST00000309060.3:c.258C>T p.Ser86= p.S86= ENST00000309060 86 tcC/tcT 0 -ZNF107 UCSF GRCh37 7 64168031 64168031 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 102 16 103 0 ENST00000395391.1:c.1349G>A p.Ser450Asn p.S450N ENST00000395391 450 aGc/aAc 0 -ZNF155 UCSF GRCh37 19 44501158 44501158 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 346 95 441 1 ENST00000407951.2:c.1182G>A p.Trp394Ter p.W394* ENST00000407951 NM_001260488.1 394 tgG/tgA 0 -ZNF167 UCSF GRCh37 3 44612356 44612356 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 202 77 332 0 ENST00000273320.3:c.1754G>A p.Gly585Glu p.G585E ENST00000273320 NM_018651.2 585 gGg/gAg 0 -ZNF211 UCSF GRCh37 19 58152509 58152509 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 201 48 289 0 ENST00000299871.5:c.850G>A p.Ala284Thr p.A284T ENST00000299871 NM_001265597.1 284 Gcg/Acg 0 -ZNF217 UCSF GRCh37 20 52192575 52192575 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 118 31 140 0 ENST00000371471.2:c.2728G>A p.Ala910Thr p.A910T ENST00000371471 910 Gca/Aca 0 -ZNF225 UCSF GRCh37 19 44635006 44635006 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 187 145 345 0 ENST00000262894.6:c.239G>A p.Gly80Asp p.G80D ENST00000262894 NM_013362.2 80 gGc/gAc 0 -ZNF248 UCSF GRCh37 10 38120932 38120932 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 338 65 277 1 ENST00000395867.3:c.1351C>T p.Leu451Phe p.L451F ENST00000395867 NM_001267606.1 451 Ctc/Ttc 0 -ZNF267 UCSF GRCh37 16 31925937 31925937 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 138 21 168 0 ENST00000300870.10:c.367G>A p.Glu123Lys p.E123K ENST00000300870 NM_003414.5 123 Gaa/Aaa 0 -ZNF292 UCSF GRCh37 6 87964427 87964427 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 139 81 346 0 ENST00000369577.3:c.1080G>A p.Glu360= p.E360= ENST00000369577 NM_015021.1 360 gaG/gaA 0 -ZNF331 UCSF GRCh37 19 54080807 54080807 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 151 19 207 0 ENST00000253144.9:c.993G>A p.Glu331= p.E331= ENST00000253144 NM_018555.5 331 gaG/gaA 0 -ZNF34 UCSF GRCh37 8 145999772 145999772 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 100 56 229 0 ENST00000343459.4:c.562C>T p.Pro188Ser p.P188S ENST00000343459 188 Cct/Tct 0 -ZNF410 UCSF GRCh37 14 74360506 74360506 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 90 36 167 0 ENST00000442160.3:c.40G>A p.Val14Ile p.V14I ENST00000442160 NM_001242924.1 14 Gta/Ata 0 -ZNF434 UCSF GRCh37 16 3433513 3433513 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 84 27 149 0 ENST00000304926.3:c.797C>T p.Ser266Phe p.S266F ENST00000304926 NM_017810.2 266 tCc/tTc 0 -ZNF444 UCSF GRCh37 19 56658566 56658566 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 10 7 28 0 ENST00000337080.3:c.286G>A p.Glu96Lys p.E96K ENST00000337080 NM_018337.3 96 Gag/Aag 0 -ZNF446 UCSF GRCh37 19 58989194 58989194 + splice_donor_variant Splice_Site SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 23 8 36 0 ENST00000594369.1:c.532+1G>A p.X178_splice ENST00000594369 NM_017908.2 0 -ZNF451 UCSF GRCh37 6 57017100 57017100 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 204 32 165 0 ENST00000370706.4:c.2834C>T p.Pro945Leu p.P945L ENST00000370706 NM_001031623.2 945 cCt/cTt 0 -ZNF454 UCSF GRCh37 5 178373410 178373410 + stop_gained Nonsense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 105 15 203 0 ENST00000320129.3:c.84G>A p.Trp28Ter p.W28* ENST00000320129 NM_182594.2 28 tgG/tgA 0 -ZNF484 UCSF GRCh37 9 95610124 95610124 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 144 33 150 0 ENST00000395506.3:c.951G>A p.Lys317= p.K317= ENST00000395506 317 aaG/aaA 0 -ZNF497 UCSF GRCh37 19 58868933 58868933 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 19 8 36 0 ENST00000311044.3:c.69G>A p.Lys23= p.K23= ENST00000311044 NM_198458.2 23 aaG/aaA 0 -ZNF502 UCSF GRCh37 3 44762784 44762784 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 179 50 243 0 ENST00000296091.4:c.475G>A p.Glu159Lys p.E159K ENST00000296091 NM_001134440.1 159 Gaa/Aaa 0 -ZNF518B UCSF GRCh37 4 10445645 10445645 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 175 55 252 0 ENST00000326756.3:c.2308G>A p.Val770Met p.V770M ENST00000326756 NM_053042.2 770 Gtg/Atg 0 -ZNF546 UCSF GRCh37 19 40520077 40520077 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 194 64 233 0 ENST00000347077.4:c.900C>T p.Pro300= p.P300= ENST00000347077 NM_178544.3 300 ccC/ccT 0 -ZNF551 UCSF GRCh37 19 58196644 58196644 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 367 53 395 0 ENST00000282296.5:c.96G>A p.Glu32= p.E32= ENST00000282296 32 gaG/gaA 0 -ZNF564 UCSF GRCh37 19 12638717 12638717 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 131 52 161 0 ENST00000339282.7:c.205G>A p.Glu69Lys p.E69K ENST00000339282 NM_144976.3 69 Gag/Aag 0 -ZNF595 UCSF GRCh37 4 86793 86793 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 168 46 212 0 ENST00000380882.5:n.1171C>T *391* ENST00000380882 0 -ZNF614 UCSF GRCh37 19 52520123 52520123 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 101 87 160 0 ENST00000270649.6:c.728G>A p.Ser243Asn p.S243N ENST00000270649 NM_025040.3 243 aGt/aAt 0 -ZNF627 UCSF GRCh37 19 11725386 11725386 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 349 89 408 0 ENST00000361113.5:c.48G>A p.Glu16= p.E16= ENST00000361113 NM_145295.3 16 gaG/gaA 0 -ZNF653 UCSF GRCh37 19 11596546 11596546 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 228 45 294 0 ENST00000293771.5:c.1495G>A p.Val499Met p.V499M ENST00000293771 NM_138783.3 499 Gtg/Atg 0 -ZNF660 UCSF GRCh37 3 44636524 44636524 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 73 30 121 0 ENST00000322734.2:c.839G>A p.Gly280Glu p.G280E ENST00000322734 NM_173658.2 280 gGg/gAg 0 -ZNF689 UCSF GRCh37 16 30616479 30616479 + synonymous_variant Silent SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 83 28 176 0 ENST00000287461.3:c.609C>T p.Cys203= p.C203= ENST00000287461 NM_138447.2 203 tgC/tgT 0 -ZNF701 UCSF GRCh37 19 53077350 53077350 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 250 50 294 0 ENST00000540331.1:c.148G>A p.Val50Ile p.V50I ENST00000540331 NM_001172655.1 50 Gta/Ata 0 -ZNF716 UCSF GRCh37 7 57510025 57510025 + stop_gained Nonsense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 108 81 209 0 ENST00000420713.1:c.31C>T p.Arg11Ter p.R11* ENST00000420713 NM_001159279.1 11 Cga/Tga 0 -ZNF808 UCSF GRCh37 19 53058370 53058370 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 493 346 906 1 ENST00000359798.4:c.2201C>T p.Pro734Leu p.P734L ENST00000359798 NM_001039886.3 734 cCt/cTt 0 -ZNF93 UCSF GRCh37 19 20044216 20044216 + missense_variant Missense_Mutation SNP G G A NOVEL P21_Rec Untested WXS Illumina HiSeq 116 33 103 0 ENST00000343769.5:c.452G>A p.Gly151Glu p.G151E ENST00000343769 NM_031218.3 151 gGg/gAg 0 -ZP3 UCSF GRCh37 7 76069815 76069815 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 211 43 345 0 ENST00000394857.3:c.947C>T p.Ala316Val p.A316V ENST00000394857 NM_001110354.1 316 gCt/gTt 0 -ZSCAN2 UCSF GRCh37 15 85164467 85164467 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 187 51 289 0 ENST00000448803.2:c.1041C>T p.Ser347= p.S347= ENST00000448803 NM_181877.3 347 tcC/tcT 0 -ZSCAN2 UCSF GRCh37 15 85165136 85165136 + synonymous_variant Silent SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 207 57 256 0 ENST00000448803.2:c.1710C>T p.Asn570= p.N570= ENST00000448803 NM_181877.3 570 aaC/aaT 0 -ZSWIM5 UCSF GRCh37 1 45525839 45525839 + missense_variant Missense_Mutation SNP C C T NOVEL P21_Rec Untested WXS Illumina HiSeq 94 15 119 0 ENST00000359600.5:c.1033G>A p.Val345Met p.V345M ENST00000359600 NM_020883.1 345 Gtg/Atg 0 -ACVRL1 UCSF GRCh37 12 52309821 52309821 + splice_region_variant,synonymous_variant Splice_Region SNP C C A NOVEL P24_Pri Untested WXS Illumina HiSeq 99 22 89 1 ENST00000388922.4:c.1050C>A p.Gly350= p.G350= ENST00000388922 NM_000020.2 350 ggC/ggA 0 -ASPM UCSF GRCh37 1 197071895 197071895 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Pri Untested WXS Illumina HiSeq 202 119 445 0 ENST00000367409.4:c.6486G>C p.Lys2162Asn p.K2162N ENST00000367409 NM_018136.4 2162 aaG/aaC 0 -ATRX UCSF GRCh37 X 76939340 76939343 + frameshift_variant Frame_Shift_Del DEL CTAC CTAC - NOVEL P24_Pri Untested WXS Illumina HiSeq 53 0 ENST00000373344.5:c.1405_1408delGTAG p.Val469IlefsTer44 p.V469Ifs*44 ENST00000373344 NM_000489.3 469 GTAGat/at 0 -ATRX UCSF GRCh37 X 76920171 76920172 + frameshift_variant Frame_Shift_Del DEL TC TC - NOVEL P24_Pri Untested WXS Illumina HiSeq 15 0 ENST00000373344.5:c.3905_3906del p.Arg1302AsnfsTer6 p.R1302Nfs*6 ENST00000373344 NM_000489.3 1302 aGA/a 0 -CNTN6 UCSF GRCh37 3 1262473 1262473 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Pri Untested WXS Illumina HiSeq 93 11 144 0 ENST00000446702.2:c.158A>G p.Asn53Ser p.N53S ENST00000446702 53 aAt/aGt 0 -CYP4A22 UCSF GRCh37 1 47606476 47606476 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Pri Untested WXS Illumina HiSeq 179 39 258 0 ENST00000371891.3:c.220C>T p.Arg74Trp p.R74W ENST00000371891 NM_001010969.2 74 Cgg/Tgg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Pri Untested WXS Illumina HiSeq 16 3 28 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -MARK4 UCSF GRCh37 19 45769492 45769492 + missense_variant Missense_Mutation SNP G G T NOVEL P24_Pri Untested WXS Illumina HiSeq 130 53 207 0 ENST00000262891.4:c.502G>T p.Ala168Ser p.A168S ENST00000262891 NM_001199867.1 168 Gct/Tct 0 -MTUS1 UCSF GRCh37 8 17504501 17504501 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Pri Untested WXS Illumina HiSeq 162 48 269 0 ENST00000262102.6:c.3589G>A p.Ala1197Thr p.A1197T ENST00000262102 NM_001001924.2 1197 Gca/Aca 0 -TMEM55B UCSF GRCh37 14 20927400 20927400 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Pri Untested WXS Illumina HiSeq 35 18 71 0 ENST00000398020.4:c.676G>C p.Gly226Arg p.G226R ENST00000398020 NM_144568.2 226 Ggc/Cgc 0 -TP53 UCSF GRCh37 17 7576858 7576858 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P24_Pri Untested WXS Illumina HiSeq 117 0 ENST00000269305.4:c.988delC p.Leu330PhefsTer15 p.L330Ffs*15 ENST00000269305 NM_001126112.2 330 Ctt/tt 0 -UNC5C UCSF GRCh37 4 96123949 96123949 + missense_variant Missense_Mutation SNP A A T NOVEL P24_Pri Untested WXS Illumina HiSeq 52 16 57 0 ENST00000453304.1:c.2069T>A p.Leu690Gln p.L690Q ENST00000453304 NM_003728.3 690 cTg/cAg 0 -VGLL1 UCSF GRCh37 X 135630884 135630884 + synonymous_variant Silent SNP G G A NOVEL P24_Pri Untested WXS Illumina HiSeq 168 19 207 0 ENST00000370634.3:c.351G>A p.Pro117= p.P117= ENST00000370634 NM_016267.3 117 ccG/ccA 0 -ABHD11 UCSF GRCh37 7 73153014 73153014 + synonymous_variant Silent SNP G G T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 150 20 148 0 ENST00000222800.3:c.114C>A p.Pro38= p.P38= ENST00000222800 NM_148912.2 38 ccC/ccA 0 -AKAP3 UCSF GRCh37 12 4736308 4736308 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec1 Untested WXS Illumina HiSeq 238 36 211 1 ENST00000545990.2:c.1760A>G p.Lys587Arg p.K587R ENST00000545990 NM_001278309.1 587 aAg/aGg 0 -ASB2 UCSF GRCh37 14 94423111 94423111 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 27 5 24 0 ENST00000555019.1:c.311+1G>A p.X104_splice ENST00000555019 NM_001202429.1 0 -ASPM UCSF GRCh37 1 197071895 197071895 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec1 Untested WXS Illumina HiSeq 398 48 445 0 ENST00000367409.4:c.6486G>C p.Lys2162Asn p.K2162N ENST00000367409 NM_018136.4 2162 aaG/aaC 0 -ATRX UCSF GRCh37 X 76939340 76939343 + frameshift_variant Frame_Shift_Del DEL CTAC CTAC - NOVEL P24_Rec1 Untested WXS Illumina HiSeq 30 0 ENST00000373344.5:c.1405_1408delGTAG p.Val469IlefsTer44 p.V469Ifs*44 ENST00000373344 NM_000489.3 469 GTAGat/at 0 -BBS7 UCSF GRCh37 4 122754493 122754493 + missense_variant Missense_Mutation SNP C C A NOVEL P24_Rec1 Untested WXS Illumina HiSeq 80 12 108 0 ENST00000264499.4:c.1569G>T p.Trp523Cys p.W523C ENST00000264499 NM_176824.2 523 tgG/tgT 0 -C4A UCSF GRCh37 6 31996966 31996966 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.041,1000g2011may_all_0.0752,snp132_rs17855807 P24_Rec1 Untested WXS Illumina HiSeq 30 5 41 0 ENST00000435363.2:c.3527G>A p.Ser1176Asn p.S1176N ENST00000435363 NM_001002029.3 1176 aGc/aAc 0 -DROSHA UCSF GRCh37 5 31435970 31435970 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 69 11 67 0 ENST00000344624.3:c.2944G>A p.Val982Ile p.V982I ENST00000344624 982 Gtc/Atc 0 -GLCE UCSF GRCh37 15 69560951 69560951 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P24_Rec1 Untested WXS Illumina HiSeq 11 0 ENST00000261858.2:c.1222del p.Ala408LeufsTer5 p.A408Lfs*5 ENST00000261858 NM_015554.1 408 Gct/ct 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 27 4 28 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KRT6B UCSF GRCh37 12 52843581 52843581 + synonymous_variant Silent SNP A A G snp132_rs3194297 P24_Rec1 Untested WXS Illumina HiSeq 10 5 12 0 ENST00000252252.3:c.873T>C p.Leu291= p.L291= ENST00000252252 NM_005555.3 291 ctT/ctC 0 -MNS1 UCSF GRCh37 15 56736723 56736723 + frameshift_variant Frame_Shift_Del DEL T T - 1000g2010nov_all P24_Rec1 Untested WXS Illumina HiSeq 6 0 ENST00000260453.3:c.605del p.Lys202SerfsTer9 p.K202Sfs*9 ENST00000260453 NM_018365.2 202 aAg/ag 0 -MS4A6E UCSF GRCh37 11 60105330 60105330 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0042 P24_Rec1 Untested WXS Illumina HiSeq 157 18 193 0 ENST00000300182.4:c.264C>T p.Asp88= p.D88= ENST00000300182 NM_139249.2 88 gaC/gaT 0 -MTUS1 UCSF GRCh37 8 17504501 17504501 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 257 49 269 0 ENST00000262102.6:c.3589G>A p.Ala1197Thr p.A1197T ENST00000262102 NM_001001924.2 1197 Gca/Aca 0 -PREX1 UCSF GRCh37 20 47274678 47274678 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec1 Untested WXS Illumina HiSeq 733 84 686 0 ENST00000371941.3:c.1970C>T p.Ala657Val p.A657V ENST00000371941 NM_020820.3 657 gCt/gTt 0 -PRPH UCSF GRCh37 12 49690754 49690754 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 69 8 36 0 ENST00000257860.4:c.785C>T p.Thr262Met p.T262M ENST00000257860 NM_006262.3 262 aCg/aTg 0 -RC3H1 UCSF GRCh37 1 173933175 173933175 + synonymous_variant Silent SNP C C T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 80 9 76 0 ENST00000367696.2:c.1767G>A p.Thr589= p.T589= ENST00000367696 589 acG/acA 0 -SIGLEC5 UCSF GRCh37 19 52132668 52132668 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.008,1000g2011may_all_0.0309,snp132_rs1807124 P24_Rec1 Untested WXS Illumina HiSeq 23 3 17 0 ENST00000429354.3:c.643A>G p.Met215Val p.M215V ENST00000429354 215 Atg/Gtg 0 -TP53 UCSF GRCh37 17 7576858 7576858 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P24_Rec1 Untested WXS Illumina HiSeq 25 0 ENST00000269305.4:c.988delC p.Leu330PhefsTer15 p.L330Ffs*15 ENST00000269305 NM_001126112.2 330 Ctt/tt 0 -TRRAP UCSF GRCh37 7 98608691 98608694 + frameshift_variant Frame_Shift_Del DEL TCAA TCAA - NOVEL P24_Rec1 Untested WXS Illumina HiSeq 10 0 ENST00000359863.4:c.10913_10916del p.Leu3638ArgfsTer40 p.L3638Rfs*40 ENST00000359863 NM_001244580.1 3638 cTCAAg/cg 0 -TSKS UCSF GRCh37 19 50265271 50265275 + frameshift_variant Frame_Shift_Del DEL GTGAT GTGAT - NOVEL P24_Rec1 Untested WXS Illumina HiSeq 8 0 ENST00000246801.3:c.385_389del p.Ile129GlyfsTer28 p.I129Gfs*28 ENST00000246801 NM_021733.1 129 ATCACg/g 0 -VGLL1 UCSF GRCh37 X 135630884 135630884 + synonymous_variant Silent SNP G G A NOVEL P24_Rec1 Untested WXS Illumina HiSeq 187 43 207 0 ENST00000370634.3:c.351G>A p.Pro117= p.P117= ENST00000370634 NM_016267.3 117 ccG/ccA 0 -ZNF185 UCSF GRCh37 X 152083371 152083371 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec1 Untested WXS Illumina HiSeq 26 7 17 0 ENST00000535861.1:c.152G>A p.Arg51His p.R51H ENST00000535861 NM_001178106.1 51 cGc/cAc 0 -ZNF286B UCSF GRCh37 17 18565409 18565409 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.010,snp132_rs2530065 P24_Rec1 Untested WXS Illumina HiSeq 20 4 29 1 ENST00000545289.1:c.1410T>C p.Ser470= p.S470= ENST00000545289 NM_001145045.1 470 agT/agC 0 -ZNF324 UCSF GRCh37 19 58982237 58982237 + synonymous_variant Silent SNP G G T NOVEL P24_Rec1 Untested WXS Illumina HiSeq 140 16 124 0 ENST00000536459.2:c.378G>T p.Arg126= p.R126= ENST00000536459 126 cgG/cgT 0 -A4GALT UCSF GRCh37 22 43089120 43089120 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 203 26 300 0 ENST00000401850.1:c.838C>T p.Pro280Ser p.P280S ENST00000401850 280 Ccc/Tcc 0 -AACS UCSF GRCh37 12 125626687 125626687 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 9 60 0 ENST00000316519.6:c.1931C>T p.Ala644Val p.A644V ENST00000316519 NM_023928.3 644 gCt/gTt 0 -AACS UCSF GRCh37 12 125561117 125561117 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 3 37 0 ENST00000316519.6:c.318G>A p.Leu106= p.L106= ENST00000316519 NM_023928.3 106 ctG/ctA 0 -AASS UCSF GRCh37 7 121755269 121755269 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 191 22 205 0 ENST00000393376.1:c.902C>T p.Pro301Leu p.P301L ENST00000393376 301 cCc/cTc 0 -ABCA10 UCSF GRCh37 17 67190083 67190083 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 77 404 0 ENST00000269081.4:c.1393G>A p.Glu465Lys p.E465K ENST00000269081 NM_080282.3 465 Gaa/Aaa 0 -ABCA13 UCSF GRCh37 7 48559782 48559782 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 87 275 0 ENST00000435803.1:c.13943C>T p.Pro4648Leu p.P4648L ENST00000435803 NM_152701.3 4648 cCc/cTc 0 -ABCA2 UCSF GRCh37 9 139905759 139905759 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 20 164 0 ENST00000341511.6:c.5802C>T p.Asp1934= p.D1934= ENST00000341511 NM_212533.2 1934 gaC/gaT 0 -ABCA4 UCSF GRCh37 1 94546205 94546205 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 10 99 0 ENST00000370225.3:c.928G>A p.Glu310Lys p.E310K ENST00000370225 NM_000350.2 310 Gag/Aag 0 -ABCA6 UCSF GRCh37 17 67102285 67102285 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 9 94 0 ENST00000284425.2:c.2457C>T p.Ser819= p.S819= ENST00000284425 NM_080284.2 819 tcC/tcT 0 -ABCB1 UCSF GRCh37 7 87160729 87160729 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 20 192 0 ENST00000265724.3:c.2566C>T p.Gln856Ter p.Q856* ENST00000265724 NM_000927.4 856 Caa/Taa 0 -ABCB10 UCSF GRCh37 1 229654102 229654102 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 20 184 0 ENST00000344517.4:c.2041G>A p.Asp681Asn p.D681N ENST00000344517 NM_012089.2 681 Gat/Aat 0 -ABCB11 UCSF GRCh37 2 169833173 169833173 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 8 113 0 ENST00000263817.6:c.1222G>A p.Glu408Lys p.E408K ENST00000263817 NM_003742.2 408 Gaa/Aaa 0 -ABCB11 UCSF GRCh37 2 169788987 169788987 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 11 61 0 ENST00000263817.6:c.3113C>T p.Thr1038Ile p.T1038I ENST00000263817 NM_003742.2 1038 aCc/aTc 0 -ABCB11 UCSF GRCh37 2 169792807 169792807 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 12 78 0 ENST00000263817.6:c.2747C>T p.Ala916Val p.A916V ENST00000263817 NM_003742.2 916 gCc/gTc 0 -ABCB4 UCSF GRCh37 7 87049328 87049328 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 34 247 0 ENST00000265723.4:c.2380G>A p.Ala794Thr p.A794T ENST00000265723 NM_000443.3 794 Gca/Aca 0 -ABCB5 UCSF GRCh37 7 20766690 20766690 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 3 37 0 ENST00000404938.2:c.2653C>T p.Arg885Cys p.R885C ENST00000404938 NM_001163941.1 885 Cgt/Tgt 0 -ABCC4 UCSF GRCh37 13 95696034 95696034 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 10 88 0 ENST00000376887.4:c.3637G>A p.Glu1213Lys p.E1213K ENST00000376887 NM_005845.3 1213 Gag/Aag 0 -ABCC6 UCSF GRCh37 16 16284056 16284056 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 5 47 0 ENST00000205557.7:c.1600G>A p.Val534Met p.V534M ENST00000205557 NM_001171.5 534 Gtg/Atg 0 -ABCC8 UCSF GRCh37 11 17449921 17449921 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 16 149 0 ENST00000389817.3:c.1955C>T p.Ala652Val p.A652V ENST00000389817 652 gCc/gTc 0 -ABCD1 UCSF GRCh37 X 153002673 153002673 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 5 40 0 ENST00000218104.3:c.1456G>A p.Gly486Arg p.G486R ENST00000218104 NM_000033.3 486 Gga/Aga 0 -ABCD2 UCSF GRCh37 12 40012872 40012872 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.002,1000g2011may_all_0.0042,snp132_rs35217341 P24_Rec2 Untested WXS Illumina HiSeq 225 31 263 0 ENST00000308666.3:c.546C>T p.His182= p.H182= ENST00000308666 NM_005164.3 182 caC/caT 0 -ABCD4 UCSF GRCh37 14 74761851 74761851 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 211 26 309 0 ENST00000356924.4:c.719G>A p.Arg240Lys p.R240K ENST00000356924 NM_005050.3 240 aGa/aAa 0 -ABCF1 UCSF GRCh37 6 30547723 30547723 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 3 25 0 ENST00000326195.8:c.505C>T p.Gln169Ter p.Q169* ENST00000326195 NM_001025091.1 169 Cag/Tag 0 -ABCF1 UCSF GRCh37 6 30550959 30550959 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 15 123 0 ENST00000326195.8:c.909C>T p.Asp303= p.D303= ENST00000326195 NM_001025091.1 303 gaC/gaT 0 -ABCF1 UCSF GRCh37 6 30553437 30553437 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 9 106 0 ENST00000326195.8:c.1578C>T p.Leu526= p.L526= ENST00000326195 NM_001025091.1 526 ctC/ctT 0 -ABCF3 UCSF GRCh37 3 183905677 183905677 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 10 85 0 ENST00000429586.2:c.475G>A p.Ala159Thr p.A159T ENST00000429586 NM_018358.2 159 Gca/Aca 0 -ABCF3 UCSF GRCh37 3 183910922 183910922 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 18 136 0 ENST00000429586.2:c.1783G>A p.Gly595Ser p.G595S ENST00000429586 NM_018358.2 595 Ggt/Agt 0 -ABCG8 UCSF GRCh37 2 44079759 44079759 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 220 27 318 0 ENST00000272286.2:c.716C>T p.Pro239Leu p.P239L ENST00000272286 NM_022437.2 239 cCc/cTc 0 -ABHD4 UCSF GRCh37 14 23072957 23072957 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 12 89 0 ENST00000428304.2:c.613G>A p.Ala205Thr p.A205T ENST00000428304 NM_022060.2 205 Gct/Act 0 -ABI3BP UCSF GRCh37 3 100568891 100568891 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 18 124 0 ENST00000284322.5:c.1373C>T p.Pro458Leu p.P458L ENST00000284322 NM_015429.3 458 cCt/cTt 0 -ABL1 UCSF GRCh37 9 133738375 133738375 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 6 47 0 ENST00000318560.5:c.775G>A p.Gly259Ser p.G259S ENST00000318560 NM_005157.4 259 Ggc/Agc 0 -ABRA UCSF GRCh37 8 107781887 107781887 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 73 249 0 ENST00000311955.3:c.532G>A p.Glu178Lys p.E178K ENST00000311955 NM_139166.4 178 Gag/Aag 0 -ACACA UCSF GRCh37 17 35518718 35518718 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 8 51 0 ENST00000353139.5:c.5326G>A p.Val1776Ile p.V1776I ENST00000353139 NM_198834.1 1776 Gta/Ata 0 -ACACB UCSF GRCh37 12 109623490 109623490 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 15 171 0 ENST00000338432.7:c.1925C>T p.Pro642Leu p.P642L ENST00000338432 642 cCc/cTc 0 -ACACB UCSF GRCh37 12 109629491 109629491 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 21 196 0 ENST00000338432.7:c.2218C>T p.Leu740Phe p.L740F ENST00000338432 740 Ctc/Ttc 0 -ACAD11 UCSF GRCh37 3 132360879 132360879 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 37 268 0 ENST00000264990.6:c.474C>T p.Ser158= p.S158= ENST00000264990 NM_032169.4 158 tcC/tcT 0 -ACAP1 UCSF GRCh37 17 7252391 7252391 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 21 154 0 ENST00000158762.3:c.1756C>T p.Pro586Ser p.P586S ENST00000158762 NM_014716.3 586 Ccc/Tcc 0 -ACBD6 UCSF GRCh37 1 180471299 180471299 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 273 43 366 0 ENST00000367595.3:c.103G>A p.Glu35Lys p.E35K ENST00000367595 NM_032360.3 35 Gag/Aag 0 -ACCN2 UCSF GRCh37 12 50474479 50474479 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 17 163 0 ENST00000228468.4:c.1404C>T p.Pro468= p.P468= ENST00000228468 NM_020039.3 468 ccC/ccT 0 -ACE UCSF GRCh37 17 61557699 61557699 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 12 47 0 ENST00000290866.4:c.657C>T p.Gly219= p.G219= ENST00000290866 NM_000789.3 219 ggC/ggT 0 -ACSBG1 UCSF GRCh37 15 78526734 78526734 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 31 214 0 ENST00000258873.4:c.110C>T p.Thr37Ile p.T37I ENST00000258873 NM_001199377.1 37 aCc/aTc 0 -ACSS2 UCSF GRCh37 20 33470605 33470605 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 6 75 0 ENST00000253382.5:c.187G>A p.Gly63Arg p.G63R ENST00000253382 NM_001076552.2 63 Gga/Aga 0 -ACSS2 UCSF GRCh37 20 33507237 33507237 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 29 178 0 ENST00000253382.5:c.874-1G>A p.X292_splice ENST00000253382 NM_001076552.2 0 -ACTA1 UCSF GRCh37 1 229568828 229568828 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 5 48 0 ENST00000366684.3:c.35G>A p.Cys12Tyr p.C12Y ENST00000366684 NM_001100.3 12 tGc/tAc 0 -ACTB UCSF GRCh37 7 5567397 5567397 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 3 9 0 ENST00000331789.5:c.1110C>T p.Val370= p.V370= ENST00000331789 NM_001101.3 370 gtC/gtT 0 -ACTL7B UCSF GRCh37 9 111616998 111616998 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 19 163 0 ENST00000374667.3:c.1213G>A p.Glu405Lys p.E405K ENST00000374667 NM_006686.3 405 Gag/Aag 0 -ACTL7B UCSF GRCh37 9 111617665 111617665 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 204 28 257 0 ENST00000374667.3:c.546G>A p.Ser182= p.S182= ENST00000374667 NM_006686.3 182 tcG/tcA 0 -ACTL8 UCSF GRCh37 1 18152819 18152819 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 173 33 229 0 ENST00000375406.1:c.906C>T p.Thr302= p.T302= ENST00000375406 NM_030812.2 302 acC/acT 0 -ACTN4 UCSF GRCh37 19 39214964 39214964 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 100 23 126 0 ENST00000252699.2:c.1860C>T p.Asn620= p.N620= ENST00000252699 NM_004924.4 620 aaC/aaT 0 -ACTR5 UCSF GRCh37 20 37380900 37380900 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 9 60 0 ENST00000243903.4:c.732G>A p.Glu244= p.E244= ENST00000243903 NM_024855.3 244 gaG/gaA 0 -ACVR1B UCSF GRCh37 12 52387891 52387891 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 10 52 0 ENST00000541224.1:c.1638C>T p.Ile546= p.I546= ENST00000541224 546 atC/atT 0 -ADAM12 UCSF GRCh37 10 127753543 127753543 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 5 38 0 ENST00000368679.4:c.1450G>A p.Asp484Asn p.D484N ENST00000368679 NM_003474.4 484 Gac/Aac 0 -ADAM12 UCSF GRCh37 10 127760187 127760187 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 192 50 445 0 ENST00000368679.4:c.1191G>A p.Arg397= p.R397= ENST00000368679 NM_003474.4 397 agG/agA 0 -ADAM17 UCSF GRCh37 2 9630458 9630458 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 58 172 0 ENST00000310823.3:c.2323G>A p.Asp775Asn p.D775N ENST00000310823 NM_003183.4 775 Gat/Aat 0 -ADAM22 UCSF GRCh37 7 87760657 87760657 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 192 33 300 0 ENST00000265727.7:c.899C>T p.Ala300Val p.A300V ENST00000265727 300 gCc/gTc 0 -ADAM9 UCSF GRCh37 8 38913251 38913251 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 37 177 0 ENST00000487273.2:c.1551C>T p.Cys517= p.C517= ENST00000487273 NM_003816.2 517 tgC/tgT 0 -ADAMTS1 UCSF GRCh37 21 28217227 28217227 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 27 189 0 ENST00000284984.3:c.47G>A p.Ser16Asn p.S16N ENST00000284984 NM_006988.3 16 aGc/aAc 0 -ADAMTS13 UCSF GRCh37 9 136310022 136310022 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 36 108 0 ENST00000371929.3:c.2459G>A p.Gly820Asp p.G820D ENST00000371929 NM_139025.4 820 gGt/gAt 0 -ADAMTS13 UCSF GRCh37 9 136314999 136314999 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 30 0 ENST00000371929.3:c.2957G>A p.Gly986Asp p.G986D ENST00000371929 NM_139025.4 986 gGt/gAt 0 -ADAMTS18 UCSF GRCh37 16 77396097 77396097 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 10 76 0 ENST00000282849.5:c.1121C>T p.Ala374Val p.A374V ENST00000282849 NM_199355.2 374 gCc/gTc 0 -ADAMTS19 UCSF GRCh37 5 128983457 128983457 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 22 215 0 ENST00000274487.4:c.1855-1G>A p.X619_splice ENST00000274487 NM_133638.3 0 -ADAMTS5 UCSF GRCh37 21 28296430 28296430 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 391 60 490 0 ENST00000284987.5:c.2735G>A p.Gly912Glu p.G912E ENST00000284987 NM_007038.3 912 gGa/gAa 0 -ADAMTS6 UCSF GRCh37 5 64766794 64766794 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 188 38 277 0 ENST00000381055.3:c.273C>T p.Ala91= p.A91= ENST00000381055 NM_197941.2 91 gcC/gcT 0 -ADCK2 UCSF GRCh37 7 140373796 140373796 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 35 207 0 ENST00000072869.4:c.666C>T p.Ala222= p.A222= ENST00000072869 NM_052853.3 222 gcC/gcT 0 -ADCY10 UCSF GRCh37 1 167805696 167805696 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 9 84 0 ENST00000367851.4:c.3160C>T p.Pro1054Ser p.P1054S ENST00000367851 NM_018417.4 1054 Cct/Tct 0 -ADCY10 UCSF GRCh37 1 167852699 167852699 + synonymous_variant Silent SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 33 135 0 ENST00000367851.4:c.996C>A p.Ile332= p.I332= ENST00000367851 NM_018417.4 332 atC/atA 0 -ADCY8 UCSF GRCh37 8 132052082 132052082 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 21 101 0 ENST00000286355.5:c.498G>A p.Leu166= p.L166= ENST00000286355 NM_001115.2 166 ttG/ttA 0 -ADD2 UCSF GRCh37 2 70900457 70900457 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 18 150 0 ENST00000264436.4:c.1742-319G>A *581* ENST00000264436 NM_001617.3 0 -ADRBK1 UCSF GRCh37 11 67050605 67050605 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 173 143 404 0 ENST00000308595.5:c.1234G>A p.Glu412Lys p.E412K ENST00000308595 NM_001619.3 412 Gag/Aag 0 -ADRBK1 UCSF GRCh37 11 67049810 67049810 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 21 128 0 ENST00000308595.5:c.1026C>T p.Phe342= p.F342= ENST00000308595 NM_001619.3 342 ttC/ttT 0 -AEN UCSF GRCh37 15 89172585 89172585 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 4 40 0 ENST00000332810.3:c.669G>A p.Glu223= p.E223= ENST00000332810 NM_022767.3 223 gaG/gaA 0 -AFAP1 UCSF GRCh37 4 7802206 7802206 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 27 255 0 ENST00000420658.1:c.1229G>A p.Arg410Gln p.R410Q ENST00000420658 NM_001134647.1 410 cGg/cAg 0 -AFAP1 UCSF GRCh37 4 7774616 7774616 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 228 43 320 0 ENST00000420658.1:c.2184G>A p.Lys728= p.K728= ENST00000420658 NM_001134647.1 728 aaG/aaA 0 -AFAP1L2 UCSF GRCh37 10 116064684 116064684 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 4 45 0 ENST00000304129.4:c.1078C>T p.Leu360= p.L360= ENST00000304129 NM_001287824.1 360 Ctg/Ttg 0 -AFF3 UCSF GRCh37 2 100203737 100203737 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 21 197 0 ENST00000356421.2:c.2545G>A p.Asp849Asn p.D849N ENST00000356421 NM_001025108.1 849 Gac/Aac 0 -AGER UCSF GRCh37 6 32151714 32151714 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 26 192 0 ENST00000375076.4:c.103G>A p.Val35Met p.V35M ENST00000375076 NM_001206929.1 35 Gtg/Atg 0 -AGFG2 UCSF GRCh37 7 100159897 100159897 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.0012 P24_Rec2 Untested WXS Illumina HiSeq 51 9 85 0 ENST00000300176.4:c.893C>T p.Thr298Ile p.T298I ENST00000300176 NM_006076.4 298 aCt/aTt 0 -AGK UCSF GRCh37 7 141349127 141349127 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 281 37 294 0 ENST00000355413.4:c.1040C>T p.Thr347Ile p.T347I ENST00000355413 NM_018238.3 347 aCt/aTt 0 -AGL UCSF GRCh37 1 100335995 100335995 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 31 263 0 ENST00000294724.4:c.704C>T p.Ala235Val p.A235V ENST00000294724 NM_000028.2 235 gCc/gTc 0 -AHNAK2 UCSF GRCh37 14 105404793 105404793 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 23 198 0 ENST00000333244.5:c.16995C>T p.Ser5665= p.S5665= ENST00000333244 NM_138420.2 5665 tcC/tcT 0 -AIF1 UCSF GRCh37 6 31583111 31583111 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 23 72 0 ENST00000376059.3:c.5G>A p.Ser2Asn p.S2N ENST00000376059 NM_001623.3 2 aGc/aAc 0 -AIM1L UCSF GRCh37 1 26670384 26670384 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 15 159 0 ENST00000527815.1:c.143C>T p.Thr48Ile p.T48I ENST00000527815 NM_001039775.3 48 aCc/aTc 0 -AIM2 UCSF GRCh37 1 159036072 159036072 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 22 170 0 ENST00000368130.4:c.444G>A p.Gly148= p.G148= ENST00000368130 NM_004833.1 148 ggG/ggA 0 -AK5 UCSF GRCh37 1 77752629 77752629 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 5 68 0 ENST00000354567.2:c.64C>T p.Leu22Phe p.L22F ENST00000354567 NM_174858.2 22 Ctt/Ttt 0 -AKAP13 UCSF GRCh37 15 86123161 86123161 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 24 221 0 ENST00000361243.2:c.1862C>T p.Ala621Val p.A621V ENST00000361243 NM_006738.5 621 gCc/gTc 0 -AKAP3 UCSF GRCh37 12 4736308 4736308 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 120 211 1 ENST00000545990.2:c.1760A>G p.Lys587Arg p.K587R ENST00000545990 NM_001278309.1 587 aAg/aGg 0 -AKAP4 UCSF GRCh37 X 49958781 49958781 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 27 152 0 ENST00000358526.2:c.583C>T p.Pro195Ser p.P195S ENST00000358526 NM_003886.2 195 Cca/Tca 0 -AKAP5 UCSF GRCh37 14 64935379 64935379 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 36 350 0 ENST00000394718.4:c.267G>A p.Arg89= p.R89= ENST00000394718 NM_004857.3 89 agG/agA 0 -AKAP6 UCSF GRCh37 14 33046377 33046377 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 14 103 0 ENST00000280979.4:c.2398G>A p.Glu800Lys p.E800K ENST00000280979 NM_004274.4 800 Gaa/Aaa 0 -AKAP8 UCSF GRCh37 19 15479045 15479045 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 725 86 656 0 ENST00000269701.2:c.1160+1G>A p.X387_splice ENST00000269701 NM_005858.3 0 -ALAS1 UCSF GRCh37 3 52240740 52240740 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 283 37 411 0 ENST00000394965.2:c.1138G>A p.Ala380Thr p.A380T ENST00000394965 NM_000688.5 380 Gca/Aca 0 -ALDH1L1 UCSF GRCh37 3 125833449 125833449 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 18 152 0 ENST00000273450.3:c.2063C>T p.Ser688Leu p.S688L ENST00000273450 NM_001270364.1 688 tCa/tTa 0 -ALDH1L1 UCSF GRCh37 3 125879707 125879707 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 13 72 0 ENST00000273450.3:c.146C>T p.Ala49Val p.A49V ENST00000273450 NM_001270364.1 49 gCc/gTc 0 -ALDH6A1 UCSF GRCh37 14 74531550 74531550 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 132 27 247 0 ENST00000553458.1:c.1478G>A p.Gly493Glu p.G493E ENST00000553458 NM_001278593.1 493 gGa/gAa 0 -ALG2 UCSF GRCh37 9 101980970 101980970 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 6 74 0 ENST00000476832.1:c.497C>T p.Thr166Ile p.T166I ENST00000476832 NM_033087.3 166 aCc/aTc 0 -ALKBH2 UCSF GRCh37 12 109526108 109526108 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 12 114 0 ENST00000429722.2:c.689C>T p.Thr230Ile p.T230I ENST00000429722 NM_001145374.1 230 aCc/aTc 0 -ALLC UCSF GRCh37 2 3749131 3749131 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 8 66 0 ENST00000252505.3:c.880G>A p.Gly294Arg p.G294R ENST00000252505 NM_018436.3 294 Ggg/Agg 0 -ALMS1 UCSF GRCh37 2 73676891 73676891 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 443 76 650 0 ENST00000264448.6:c.3234C>T p.Phe1078= p.F1078= ENST00000264448 NM_015120.4 1078 ttC/ttT 0 -ALMS1 UCSF GRCh37 2 73800038 73800038 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 12 118 0 ENST00000264448.6:c.11031G>A p.Arg3677= p.R3677= ENST00000264448 NM_015120.4 3677 cgG/cgA 0 -ALPI UCSF GRCh37 2 233321741 233321741 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 47 0 ENST00000295463.3:c.433G>A p.Gly145Ser p.G145S ENST00000295463 NM_001631.3 145 Ggc/Agc 0 -ALPK1 UCSF GRCh37 4 113352584 113352584 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 289 45 482 0 ENST00000458497.1:c.1881G>A p.Glu627= p.E627= ENST00000458497 NM_001102406.1 627 gaG/gaA 0 -ALPK2 UCSF GRCh37 18 56205132 56205132 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 282 47 354 0 ENST00000361673.3:c.2287G>A p.Asp763Asn p.D763N ENST00000361673 NM_052947.3 763 Gat/Aat 0 -ALPK2 UCSF GRCh37 18 56246191 56246191 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 209 122 444 0 ENST00000361673.3:c.1817C>T p.Thr606Ile p.T606I ENST00000361673 NM_052947.3 606 aCc/aTc 0 -ALPL UCSF GRCh37 1 21894608 21894608 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 41 144 0 ENST00000374840.3:c.660G>A p.Gly220= p.G220= ENST00000374840 NM_000478.4 220 ggG/ggA 0 -ALX4 UCSF GRCh37 11 44286642 44286642 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 12 80 0 ENST00000329255.3:c.998C>T p.Ser333Phe p.S333F ENST00000329255 NM_021926.3 333 tCc/tTc 0 -AMDHD1 UCSF GRCh37 12 96354252 96354252 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 26 303 0 ENST00000266736.2:c.664G>A p.Gly222Arg p.G222R ENST00000266736 NM_152435.2 222 Ggg/Agg 0 -AMHR2 UCSF GRCh37 12 53825207 53825207 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 603 97 843 0 ENST00000257863.4:c.1672G>A p.Gly558Ser p.G558S ENST00000257863 NM_001164690.1 558 Ggc/Agc 0 -AMPD2 UCSF GRCh37 1 110167963 110167963 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 248 53 320 0 ENST00000256578.3:c.292G>A p.Ala98Thr p.A98T ENST00000256578 NM_004037.7 98 Gcc/Acc 0 -ANGPTL5 UCSF GRCh37 11 101773398 101773398 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 17 228 0 ENST00000334289.3:c.494G>A p.Ser165Asn p.S165N ENST00000334289 NM_178127.4 165 aGt/aAt 0 -ANKAR UCSF GRCh37 2 190595295 190595295 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 12 115 0 ENST00000520309.1:c.3268C>T p.Leu1090= p.L1090= ENST00000520309 NM_144708.3 1090 Cta/Tta 0 -ANKHD1 UCSF GRCh37 5 139838875 139838875 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 8 97 0 ENST00000297183.6:c.1607C>T p.Ser536Phe p.S536F ENST00000297183 NM_020690.5 536 tCc/tTc 0 -ANKLE1 UCSF GRCh37 19 17394429 17394429 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 384 47 372 0 ENST00000394458.3:c.856G>A p.Ala286Thr p.A286T ENST00000394458 NM_001278444.1 286 Gct/Act 0 -ANKRD13D UCSF GRCh37 11 67059142 67059142 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 236 36 271 0 ENST00000511455.2:c.466G>A p.Val156Ile p.V156I ENST00000511455 NM_207354.2 156 Gta/Ata 0 -ANKRD40 UCSF GRCh37 17 48776819 48776819 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 12 61 0 ENST00000285243.6:c.719G>A p.Gly240Glu p.G240E ENST00000285243 NM_052855.3 240 gGa/gAa 0 -ANKRD44 UCSF GRCh37 2 197946370 197946370 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 3 33 0 ENST00000282272.8:c.1513C>T p.Leu505= p.L505= ENST00000282272 NM_001195144.1 505 Cta/Tta 0 -ANKS1B UCSF GRCh37 12 99548209 99548209 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 12 58 0 ENST00000547776.2:c.2420-36C>T *807* ENST00000547776 NM_152788.4 0 -ANKS3 UCSF GRCh37 16 4752160 4752160 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 10 48 0 ENST00000304283.4:c.952G>A p.Val318Ile p.V318I ENST00000304283 NM_133450.3 318 Gtc/Atc 0 -ANO2 UCSF GRCh37 12 5685114 5685114 + missense_variant Missense_Mutation SNP T T A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 280 73 228 0 ENST00000327087.8:c.2507A>T p.Asn836Ile p.N836I ENST00000327087 NM_001278596.1 836 aAt/aTt 0 -ANTXR1 UCSF GRCh37 2 69330008 69330008 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 14 132 0 ENST00000303714.4:c.738C>T p.Phe246= p.F246= ENST00000303714 NM_032208.2 246 ttC/ttT 0 -ANTXR2 UCSF GRCh37 4 80992803 80992803 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 183 25 275 0 ENST00000307333.7:c.158G>A p.Gly53Glu p.G53E ENST00000307333 NM_001145794.1 53 gGg/gAg 0 -AOC3 UCSF GRCh37 17 41004671 41004671 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 209 29 329 0 ENST00000308423.2:c.1311C>T p.Gly437= p.G437= ENST00000308423 NM_003734.3 437 ggC/ggT 0 -AP3B1 UCSF GRCh37 5 77452093 77452093 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 229 30 388 0 ENST00000255194.6:c.1462G>A p.Asp488Asn p.D488N ENST00000255194 488 Gac/Aac 0 -AP3B2 UCSF GRCh37 15 83349459 83349459 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 43 210 0 ENST00000261722.3:c.820G>A p.Glu274Lys p.E274K ENST00000261722 NM_004644.4 274 Gag/Aag 0 -AP3D1 UCSF GRCh37 19 2115382 2115382 + missense_variant Missense_Mutation SNP C C T snp132_rs34098352 P24_Rec2 Untested WXS Illumina HiSeq 402 45 371 0 ENST00000355272.6:c.2185G>A p.Glu729Lys p.E729K ENST00000355272 NM_001261826.1 729 Gag/Aag 0 -AP3D1 UCSF GRCh37 19 2110730 2110730 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 4 28 0 ENST00000355272.6:c.3151C>T p.Pro1051Ser p.P1051S ENST00000355272 NM_001261826.1 1051 Ccc/Tcc 0 -AP4B1 UCSF GRCh37 1 114438498 114438498 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 18 149 0 ENST00000369569.1:c.1673C>T p.Ser558Leu p.S558L ENST00000369569 NM_001253852.1 558 tCa/tTa 0 -APBA1 UCSF GRCh37 9 72067119 72067119 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 189 23 258 0 ENST00000265381.4:c.1887G>A p.Lys629= p.K629= ENST00000265381 NM_001163.3 629 aaG/aaA 0 -APEH UCSF GRCh37 3 49713502 49713502 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 337 62 424 0 ENST00000296456.5:c.456C>T p.Cys152= p.C152= ENST00000296456 NM_001640.3 152 tgC/tgT 0 -APH1B UCSF GRCh37 15 63597957 63597957 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 275 39 393 0 ENST00000261879.5:c.751C>T p.Leu251Phe p.L251F ENST00000261879 NM_031301.3 251 Ctt/Ttt 0 -APITD1 UCSF GRCh37 1 10500457 10500457 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 8 93 0 ENST00000400900.2:c.263G>A p.Arg88Lys p.R88K ENST00000400900 88 aGg/aAg 0 -APLF UCSF GRCh37 2 68753356 68753356 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 15 106 0 ENST00000303795.4:c.786G>A p.Glu262= p.E262= ENST00000303795 NM_173545.2 262 gaG/gaA 0 -APLNR UCSF GRCh37 11 57003475 57003475 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 200 42 273 0 ENST00000606794.1:c.1004C>T p.Ser335Phe p.S335F ENST00000606794 NM_005161.4 335 tCc/tTc 0 -APOA5 UCSF GRCh37 11 116660927 116660927 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 31 209 0 ENST00000542499.1:c.1018C>T p.Leu340= p.L340= ENST00000542499 NM_001166598.1 340 Ctg/Ttg 0 -APOB UCSF GRCh37 2 21228815 21228815 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 270 51 391 0 ENST00000233242.1:c.10925G>A p.Gly3642Glu p.G3642E ENST00000233242 NM_000384.2 3642 gGg/gAg 0 -APOB UCSF GRCh37 2 21236226 21236226 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 45 171 1 ENST00000233242.1:c.4022C>T p.Thr1341Ile p.T1341I ENST00000233242 NM_000384.2 1341 aCc/aTc 0 -APOBEC3B UCSF GRCh37 22 39382097 39382097 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 10 93 0 ENST00000333467.3:c.454+1G>A p.X152_splice ENST00000333467 NM_004900.4 0 -APOD UCSF GRCh37 3 195295876 195295876 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 31 117 0 ENST00000343267.3:c.465C>T p.Leu155= p.L155= ENST00000343267 NM_001647.3 155 ctC/ctT 0 -APOH UCSF GRCh37 17 64210600 64210600 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 21 203 0 ENST00000205948.6:c.953G>A p.Gly318Asp p.G318D ENST00000205948 NM_000042.2 318 gGc/gAc 0 -APOL3 UCSF GRCh37 22 36537471 36537471 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 177 34 260 0 ENST00000349314.2:c.986C>T p.Thr329Ile p.T329I ENST00000349314 NM_145640.2 329 aCc/aTc 0 -APOL4 UCSF GRCh37 22 36587897 36587897 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 204 36 307 0 ENST00000352371.1:c.280G>A p.Asp94Asn p.D94N ENST00000352371 94 Gac/Aac 0 -APOL6 UCSF GRCh37 22 36055273 36055273 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 21 139 0 ENST00000409652.4:c.662C>T p.Ala221Val p.A221V ENST00000409652 NM_030641.3 221 gCc/gTc 0 -APPL1 UCSF GRCh37 3 57291453 57291453 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 20 188 0 ENST00000288266.3:c.1427G>A p.Gly476Asp p.G476D ENST00000288266 NM_012096.2 476 gGc/gAc 0 -AQP10 UCSF GRCh37 1 154295472 154295472 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 7 82 0 ENST00000324978.3:c.247C>T p.Pro83Ser p.P83S ENST00000324978 NM_080429.2 83 Cca/Tca 0 -ARAP3 UCSF GRCh37 5 141036200 141036200 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 17 122 0 ENST00000239440.4:c.3660C>T p.Ile1220= p.I1220= ENST00000239440 NM_022481.5 1220 atC/atT 0 -ARC UCSF GRCh37 8 143694825 143694825 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 21 252 0 ENST00000356613.2:c.808G>A p.Glu270Lys p.E270K ENST00000356613 NM_015193.4 270 Gag/Aag 0 -ARHGAP20 UCSF GRCh37 11 110477462 110477462 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 16 199 0 ENST00000260283.4:c.787C>T p.Pro263Ser p.P263S ENST00000260283 NM_020809.3 263 Cca/Tca 0 -ARHGAP28 UCSF GRCh37 18 6896535 6896535 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 10 120 0 ENST00000419673.2:c.1463C>T p.Ala488Val p.A488V ENST00000419673 NM_001010000.2 488 gCt/gTt 0 -ARHGAP29 UCSF GRCh37 1 94645456 94645456 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 16 113 0 ENST00000260526.6:c.2305G>A p.Glu769Lys p.E769K ENST00000260526 NM_004815.3 769 Gag/Aag 0 -ARHGAP30 UCSF GRCh37 1 161021503 161021503 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 16 108 0 ENST00000368013.3:c.1021C>T p.Pro341Ser p.P341S ENST00000368013 NM_181720.2 341 Cca/Tca 0 -ARHGAP39 UCSF GRCh37 8 145773405 145773405 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 41 245 0 ENST00000377307.2:c.1065G>A p.Pro355= p.P355= ENST00000377307 NM_025251.1 355 ccG/ccA 0 -ARHGAP44 UCSF GRCh37 17 12887937 12887937 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 28 194 0 ENST00000379672.5:c.2029G>A p.Val677Ile p.V677I ENST00000379672 NM_014859.4 677 Gtc/Atc 0 -ARHGAP6 UCSF GRCh37 X 11157559 11157559 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 9 51 0 ENST00000337414.4:c.2349G>A p.Trp783Ter p.W783* ENST00000337414 NM_013427.2 783 tgG/tgA 0 -ARHGAP9 UCSF GRCh37 12 57871385 57871385 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 308 40 33 0 ENST00000393791.3:c.613C>T p.Pro205Ser p.P205S ENST00000393791 NM_032496.2 205 Ccc/Tcc 0 -ARHGEF16 UCSF GRCh37 1 3386008 3386008 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 12 111 0 ENST00000378378.4:c.873G>A p.Glu291= p.E291= ENST00000378378 NM_014448.3 291 gaG/gaA 0 -ARHGEF18 UCSF GRCh37 19 7516038 7516038 + missense_variant Missense_Mutation SNP A A T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 38 174 0 ENST00000359920.6:c.1177A>T p.Ile393Phe p.I393F ENST00000359920 NM_001130955.1 393 Att/Ttt 0 -ARHGEF2 UCSF GRCh37 1 155935512 155935512 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 4 42 0 ENST00000361247.4:c.380C>T p.Ser127Phe p.S127F ENST00000361247 NM_001162384.1 127 tCc/tTc 0 -ARHGEF26 UCSF GRCh37 3 153840604 153840604 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 12 67 0 ENST00000356448.4:c.823C>T p.Leu275Phe p.L275F ENST00000356448 NM_001251962.1 275 Ctc/Ttc 0 -ARHGEF33 UCSF GRCh37 2 39178263 39178263 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 187 23 245 0 ENST00000409978.1:c.1053+1G>A p.X351_splice ENST00000409978 0 -ARHGEF38 UCSF GRCh37 4 106588455 106588455 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 97 340 0 ENST00000420470.2:c.1859G>A p.Ser620Asn p.S620N ENST00000420470 NM_001242729.1 620 aGt/aAt 0 -ARHGEF7 UCSF GRCh37 13 111935647 111935647 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 8 50 0 ENST00000375741.2:c.1950G>A p.Trp650Ter p.W650* ENST00000375741 NM_145735.2 650 tgG/tgA 0 -ARID1B UCSF GRCh37 6 157527695 157527695 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 37 136 0 ENST00000346085.5:c.5420G>A p.Gly1807Glu p.G1807E ENST00000346085 NM_020732.3 1807 gGg/gAg 0 -ARMC2 UCSF GRCh37 6 109294624 109294624 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 16 175 0 ENST00000392644.4:c.2511G>A p.Trp837Ter p.W837* ENST00000392644 NM_032131.4 837 tgG/tgA 0 -ARMC2 UCSF GRCh37 6 109190146 109190146 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 12 111 0 ENST00000392644.4:c.411G>A p.Arg137= p.R137= ENST00000392644 NM_032131.4 137 agG/agA 0 -ARMC4 UCSF GRCh37 10 28151470 28151470 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 20 137 0 ENST00000305242.5:c.2692C>T p.Leu898= p.L898= ENST00000305242 NM_018076.2 898 Ctg/Ttg 0 -ARMC6 UCSF GRCh37 19 19153577 19153577 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 32 224 0 ENST00000535612.1:c.87G>A p.Lys29= p.K29= ENST00000535612 NM_001199196.1 29 aaG/aaA 0 -ARMC8 UCSF GRCh37 3 138003305 138003305 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 24 228 0 ENST00000481646.1:c.1716G>A p.Gly572= p.G572= ENST00000481646 NM_015396.4 572 ggG/ggA 0 -ARMCX2 UCSF GRCh37 X 100910957 100910957 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 32 149 0 ENST00000328766.5:c.1618G>A p.Asp540Asn p.D540N ENST00000328766 NM_014782.5 540 Gat/Aat 0 -ARNT UCSF GRCh37 1 150786699 150786699 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 27 232 0 ENST00000358595.5:c.1967C>T p.Ala656Val p.A656V ENST00000358595 NM_178427.2 656 gCt/gTt 0 -ARPP19 UCSF GRCh37 15 52849334 52849334 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 19 114 0 ENST00000566423.1:c.131G>A p.Gly44Glu p.G44E ENST00000566423 44 gGa/gAa 0 -ARPP21 UCSF GRCh37 3 35785374 35785374 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 18 185 0 ENST00000458225.1:c.1952C>T p.Thr651Ile p.T651I ENST00000458225 651 aCc/aTc 0 -ARRB1 UCSF GRCh37 11 74985189 74985189 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 12 99 0 ENST00000420843.2:c.843C>T p.Asn281= p.N281= ENST00000420843 NM_004041.4 281 aaC/aaT 0 -ARRDC2 UCSF GRCh37 19 18112378 18112378 + downstream_gene_variant 3'Flank SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 7 62 0 ENST00000222249 NM_002248.4 0 -ARSJ UCSF GRCh37 4 114899759 114899759 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 17 184 0 ENST00000315366.7:c.232C>T p.Leu78Phe p.L78F ENST00000315366 NM_024590.3 78 Ctc/Ttc 0 -ARX UCSF GRCh37 X 25031293 25031293 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 42 142 0 ENST00000379044.4:c.819C>T p.Ala273= p.A273= ENST00000379044 NM_139058.2 273 gcC/gcT 0 -ASAP1 UCSF GRCh37 8 131073167 131073167 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 38 164 0 ENST00000357668.1:c.2850C>T p.Pro950= p.P950= ENST00000357668 950 ccC/ccT 0 -ASB10 UCSF GRCh37 7 150878373 150878373 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 208 30 199 0 ENST00000420175.2:c.757C>T p.Leu253= p.L253= ENST00000420175 253 Ctg/Ttg 0 -ASB16 UCSF GRCh37 17 42254374 42254374 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 3 29 0 ENST00000293414.1:c.838G>A p.Ala280Thr p.A280T ENST00000293414 NM_080863.4 280 Gcc/Acc 0 -ASH1L UCSF GRCh37 1 155451559 155451559 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 342 50 521 0 ENST00000392403.3:c.1102G>A p.Val368Ile p.V368I ENST00000392403 NM_018489.2 368 Gtt/Att 0 -ASH1L UCSF GRCh37 1 155448314 155448314 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 4 58 0 ENST00000392403.3:c.4347G>A p.Gln1449= p.Q1449= ENST00000392403 NM_018489.2 1449 caG/caA 0 -ASNSD1 UCSF GRCh37 2 190531191 190531191 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 161 30 250 0 ENST00000260952.4:c.333C>T p.Leu111= p.L111= ENST00000260952 NM_019048.2 111 ctC/ctT 0 -ASPG UCSF GRCh37 14 104569962 104569962 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 5 34 0 ENST00000551177.1:c.703G>A p.Glu235Lys p.E235K ENST00000551177 NM_001080464.2 235 Gag/Aag 0 -ASPH UCSF GRCh37 8 62438590 62438590 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 16 136 0 ENST00000379454.4:c.1846G>A p.Asp616Asn p.D616N ENST00000379454 NM_004318.3 616 Gat/Aat 0 -ASPM UCSF GRCh37 1 197071895 197071895 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 119 445 0 ENST00000367409.4:c.6486G>C p.Lys2162Asn p.K2162N ENST00000367409 NM_018136.4 2162 aaG/aaC 0 -ASTN2 UCSF GRCh37 9 119249637 119249637 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 3 41 0 ENST00000361209.2:c.3344+1G>A p.X1115_splice ENST00000361209 NM_014010.4 0 -ASTN2 UCSF GRCh37 9 119976908 119976908 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 16 143 0 ENST00000361209.2:c.744C>T p.Ala248= p.A248= ENST00000361209 NM_014010.4 248 gcC/gcT 0 -ASXL3 UCSF GRCh37 18 31324781 31324781 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 27 280 0 ENST00000269197.5:c.4969C>T p.Pro1657Ser p.P1657S ENST00000269197 NM_030632.1 1657 Ccc/Tcc 0 -ASXL3 UCSF GRCh37 18 31263528 31263528 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 18 128 0 ENST00000269197.5:c.875G>A p.Arg292Lys p.R292K ENST00000269197 NM_030632.1 292 aGg/aAg 0 -ATAD1 UCSF GRCh37 10 89552427 89552427 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 11 113 0 ENST00000308448.7:c.248C>T p.Pro83Leu p.P83L ENST00000308448 NM_032810.2 83 cCt/cTt 0 -ATAD2B UCSF GRCh37 2 23985174 23985174 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 344 53 428 0 ENST00000238789.5:c.3299G>A p.Gly1100Glu p.G1100E ENST00000238789 NM_001242338.1 1100 gGa/gAa 0 -ATF5 UCSF GRCh37 19 50436164 50436164 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 215 52 298 0 ENST00000423777.2:c.664G>A p.Ala222Thr p.A222T ENST00000423777 NM_001193646.1 222 Gct/Act 0 -ATP12A UCSF GRCh37 13 25266679 25266679 + missense_variant Missense_Mutation SNP G G A snp132_rs112162533 P24_Rec2 Untested WXS Illumina HiSeq 130 17 167 0 ENST00000218548.6:c.1199G>A p.Gly400Glu p.G400E ENST00000218548 NM_001185085.1 400 gGg/gAg 0 -ATP1A1 UCSF GRCh37 1 116930849 116930849 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 17 0 ENST00000537345.1:c.488del p.Asn163ThrfsTer9 p.N163Tfs*9 ENST00000537345 NM_001160233.1 162 Aaa/aa 0 -ATP1B2 UCSF GRCh37 17 7557516 7557516 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 293 44 330 0 ENST00000250111.4:c.493G>A p.Asp165Asn p.D165N ENST00000250111 NM_001678.3 165 Gac/Aac 0 -ATP5J2-PTCD1 UCSF GRCh37 7 99032499 99032499 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 11 109 0 ENST00000413834.1:c.514G>A p.Glu172Lys p.E172K ENST00000413834 172 Gaa/Aaa 0 -ATP6AP1 UCSF GRCh37 X 153662579 153662579 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 11 85 0 ENST00000369762.2:c.710C>T p.Ala237Val p.A237V ENST00000369762 NM_001183.4 237 gCc/gTc 0 -ATR UCSF GRCh37 3 142176554 142176554 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 235 37 351 0 ENST00000350721.4:c.7547C>T p.Thr2516Ile p.T2516I ENST00000350721 NM_001184.3 2516 aCt/aTt 0 -ATR UCSF GRCh37 3 142280101 142280101 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 163 24 274 0 ENST00000350721.4:c.1333C>T p.Pro445Ser p.P445S ENST00000350721 NM_001184.3 445 Cca/Tca 0 -ATRN UCSF GRCh37 20 3527970 3527970 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 13 150 0 ENST00000262919.5:c.777G>A p.Glu259= p.E259= ENST00000262919 NM_139321.2 259 gaG/gaA 0 -ATRNL1 UCSF GRCh37 10 116853739 116853739 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 56 150 0 ENST00000355044.3:c.230C>T p.Ser77Phe p.S77F ENST00000355044 NM_207303.2 77 tCc/tTc 0 -ATRX UCSF GRCh37 X 76939340 76939343 + frameshift_variant Frame_Shift_Del DEL CTAC CTAC - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 0 ENST00000373344.5:c.1405_1408delGTAG p.Val469IlefsTer44 p.V469Ifs*44 ENST00000373344 NM_000489.3 469 GTAGat/at 0 -ATXN10 UCSF GRCh37 22 46085607 46085607 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 10 4 26 0 ENST00000252934.5:c.132G>A p.Arg44= p.R44= ENST00000252934 NM_013236.3 44 agG/agA 0 -ATXN2 UCSF GRCh37 12 111956165 111956165 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 23 118 0 ENST00000377617.3:c.1533G>A p.Gln511= p.Q511= ENST00000377617 NM_002973.3 511 caG/caA 0 -ATXN7 UCSF GRCh37 3 63898902 63898902 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 192 35 291 0 ENST00000398590.3:c.394+1G>A p.X132_splice ENST00000398590 NM_001177387.1 0 -AUTS2 UCSF GRCh37 7 70255005 70255005 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 17 120 0 ENST00000342771.4:c.2803C>T p.Gln935Ter p.Q935* ENST00000342771 NM_015570.2 935 Cag/Tag 0 -AXIN1 UCSF GRCh37 16 360045 360045 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 10 84 0 ENST00000262320.3:c.1044C>T p.Ile348= p.I348= ENST00000262320 NM_003502.3 348 atC/atT 0 -B3GNT2 UCSF GRCh37 2 62449935 62449935 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 136 18 207 0 ENST00000301998.4:c.580C>T p.Leu194Phe p.L194F ENST00000301998 NM_006577.5 194 Ctt/Ttt 0 -B3GNT3 UCSF GRCh37 19 17922609 17922609 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 266 32 251 0 ENST00000318683.6:c.797C>T p.Pro266Leu p.P266L ENST00000318683 NM_014256.3 266 cCc/cTc 0 -B4GALT2 UCSF GRCh37 1 44447495 44447495 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 264 42 332 0 ENST00000309519.7:c.535C>T p.Pro179Ser p.P179S ENST00000309519 179 Ccc/Tcc 0 -B4GALT4 UCSF GRCh37 3 118948697 118948697 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 20 206 0 ENST00000483209.1:c.250C>T p.Leu84Phe p.L84F ENST00000483209 84 Ctc/Ttc 0 -B4GALT4 UCSF GRCh37 3 118942904 118942904 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 8 74 0 ENST00000483209.1:c.674+1G>A p.X225_splice ENST00000483209 0 -B4GALT6 UCSF GRCh37 18 29246326 29246326 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 235 41 356 0 ENST00000306851.5:c.125A>G p.Tyr42Cys p.Y42C ENST00000306851 NM_004775.3 42 tAt/tGt 0 -BAG5 UCSF GRCh37 14 104027253 104027253 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 25 264 0 ENST00000337322.4:c.372G>A p.Glu124= p.E124= ENST00000337322 NM_001015049.2 124 gaG/gaA 0 -BAIAP2 UCSF GRCh37 17 79089586 79089586 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 174 38 232 0 ENST00000321300.6:c.1552G>A p.Val518Ile p.V518I ENST00000321300 NM_001144888.1 518 Gtc/Atc 0 -BANF2 UCSF GRCh37 20 17716437 17716437 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 273 49 408 0 ENST00000545418.2:c.275G>A p.Trp92Ter p.W92* ENST00000545418 NM_001159495.1 92 tGg/tAg 0 -BAZ2A UCSF GRCh37 12 56992689 56992689 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 18 144 0 ENST00000551812.1:c.5515G>A p.Asp1839Asn p.D1839N ENST00000551812 NM_013449.3 1839 Gat/Aat 0 -BBS9 UCSF GRCh37 7 33573761 33573761 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 310 43 332 0 ENST00000242067.6:c.2494G>A p.Ala832Thr p.A832T ENST00000242067 NM_198428.2 832 Gca/Aca 0 -BCHE UCSF GRCh37 3 165547469 165547469 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 372 55 471 0 ENST00000264381.3:c.1353C>T p.His451= p.H451= ENST00000264381 NM_000055.2 451 caC/caT 0 -BCKDHB UCSF GRCh37 6 80838912 80838912 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 18 131 0 ENST00000320393.6:c.309C>T p.Val103= p.V103= ENST00000320393 NM_183050.2 103 gtC/gtT 0 -BCL7A UCSF GRCh37 12 122481940 122481940 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 19 67 0 ENST00000538010.1:c.420G>A p.Lys140= p.K140= ENST00000538010 NM_020993.3 140 aaG/aaA 0 -BCL9L UCSF GRCh37 11 118773773 118773773 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 9 66 0 ENST00000334801.3:c.760G>A p.Ala254Thr p.A254T ENST00000334801 NM_182557.2 254 Gca/Aca 0 -BDP1 UCSF GRCh37 5 70840967 70840967 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 17 3 28 0 ENST00000358731.4:c.6665G>A p.Gly2222Asp p.G2222D ENST00000358731 NM_018429.2 2222 gGt/gAt 0 -BEND7 UCSF GRCh37 10 13481494 13481494 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 23 156 0 ENST00000341083.3:c.1085C>T p.Ala362Val p.A362V ENST00000341083 NM_152751.2 362 gCt/gTt 0 -BEST1 UCSF GRCh37 11 61730178 61730178 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 350 53 540 0 ENST00000449131.2:c.1372G>A p.Glu458Lys p.E458K ENST00000449131 NM_001139443.1 458 Gag/Aag 0 -BFAR UCSF GRCh37 16 14761652 14761652 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 34 175 0 ENST00000261658.2:c.1321G>A p.Glu441Lys p.E441K ENST00000261658 NM_016561.2 441 Gaa/Aaa 0 -BFSP2 UCSF GRCh37 3 133167362 133167362 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 8 51 0 ENST00000302334.2:c.602C>T p.Ala201Val p.A201V ENST00000302334 NM_003571.2 201 gCg/gTg 0 -BHLHE23 UCSF GRCh37 20 61637563 61637563 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 10 102 0 ENST00000370346.2:c.516G>A p.Gln172= p.Q172= ENST00000370346 NM_080606.3 172 caG/caA 0 -BIRC6 UCSF GRCh37 2 32656052 32656052 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 197 30 276 0 ENST00000421745.2:c.3142G>A p.Glu1048Lys p.E1048K ENST00000421745 NM_016252.3 1048 Gaa/Aaa 0 -BIRC6 UCSF GRCh37 2 32836611 32836611 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 8 60 0 ENST00000421745.2:c.14356G>A p.Val4786Ile p.V4786I ENST00000421745 NM_016252.3 4786 Gta/Ata 0 -BIRC6 UCSF GRCh37 2 32695362 32695362 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 17 229 0 ENST00000421745.2:c.6474G>A p.Arg2158= p.R2158= ENST00000421745 NM_016252.3 2158 agG/agA 0 -BLM UCSF GRCh37 15 91304351 91304351 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 167 22 217 0 ENST00000355112.3:c.1748C>T p.Ala583Val p.A583V ENST00000355112 NM_000057.2 583 gCc/gTc 0 -BMP5 UCSF GRCh37 6 55638867 55638867 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 10 75 0 ENST00000370830.3:c.1007C>T p.Ser336Phe p.S336F ENST00000370830 NM_021073.2 336 tCc/tTc 0 -BMP7 UCSF GRCh37 20 55841041 55841041 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 29 200 0 ENST00000395863.3:c.138C>T p.Leu46= p.L46= ENST00000395863 NM_001719.2 46 ctC/ctT 0 -BMPER UCSF GRCh37 7 34125541 34125541 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 266 92 296 0 ENST00000297161.2:c.1582G>A p.Val528Met p.V528M ENST00000297161 NM_133468.4 528 Gtg/Atg 0 -BNIPL UCSF GRCh37 1 151010133 151010133 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 11 68 0 ENST00000368931.3:c.132C>T p.Phe44= p.F44= ENST00000368931 NM_138278.3 44 ttC/ttT 0 -BOD1L UCSF GRCh37 4 13616314 13616314 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 17 205 0 ENST00000040738.5:c.680C>T p.Ala227Val p.A227V ENST00000040738 NM_148894.2 227 gCc/gTc 0 -BOD1L UCSF GRCh37 4 13597497 13597497 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 16 222 0 ENST00000040738.5:c.8091G>A p.Lys2697= p.K2697= ENST00000040738 NM_148894.2 2697 aaG/aaA 0 -BOLL UCSF GRCh37 2 198607882 198607882 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 8 60 0 ENST00000321801.7:c.767C>T p.Pro256Leu p.P256L ENST00000321801 NM_197970.2 256 cCt/cTt 0 -BRAP UCSF GRCh37 12 112087772 112087772 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 14 114 0 ENST00000419234.4:c.1386C>T p.Leu462= p.L462= ENST00000419234 NM_006768.3 462 ctC/ctT 0 -BRCA2 UCSF GRCh37 13 32921010 32921010 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 9 135 0 ENST00000380152.3:c.6984G>A p.Glu2328= p.E2328= ENST00000380152 2328 gaG/gaA 0 -BRD8 UCSF GRCh37 5 137497771 137497771 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 9 109 0 ENST00000254900.5:c.2152C>T p.Leu718Phe p.L718F ENST00000254900 NM_139199.1 718 Ctt/Ttt 0 -BRDT UCSF GRCh37 1 92470740 92470740 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 13 147 0 ENST00000362005.3:c.2659G>A p.Glu887Lys p.E887K ENST00000362005 NM_001242805.1 887 Gaa/Aaa 0 -BRE UCSF GRCh37 2 28460089 28460089 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 4 51 0 ENST00000344773.2:c.701C>T p.Ala234Val p.A234V ENST00000344773 NM_004899.4 234 gCt/gTt 0 -BRF1 UCSF GRCh37 14 105766903 105766903 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 11 50 0 ENST00000546474.1:c.64G>A p.Asp22Asn p.D22N ENST00000546474 NM_001519.3 22 Gac/Aac 0 -BRIP1 UCSF GRCh37 17 59761284 59761284 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 25 267 0 ENST00000259008.2:c.3123G>A p.Met1041Ile p.M1041I ENST00000259008 NM_032043.2 1041 atG/atA 0 -BRSK1 UCSF GRCh37 19 55798397 55798397 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 15 75 1 ENST00000309383.1:c.159C>T p.His53= p.H53= ENST00000309383 NM_032430.1 53 caC/caT 0 -BRSK2 UCSF GRCh37 11 1471823 1471823 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 6 93 0 ENST00000382179.1:c.1432C>T p.Pro478Ser p.P478S ENST00000382179 NM_001256630.1 478 Cct/Tct 0 -BSCL2 UCSF GRCh37 11 62457979 62457979 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 8 68 0 ENST00000433053.1:c.1249G>A p.Glu417Lys p.E417K ENST00000433053 417 Gaa/Aaa 0 -BTBD7 UCSF GRCh37 14 93727962 93727962 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 247 39 434 0 ENST00000334746.5:c.1433G>A p.Arg478Lys p.R478K ENST00000334746 NM_001002860.2 478 aGa/aAa 0 -BTN2A1 UCSF GRCh37 6 26465535 26465535 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 29 226 0 ENST00000312541.5:c.835C>T p.Leu279= p.L279= ENST00000312541 NM_007049.4 279 Ctg/Ttg 0 -BTN2A2 UCSF GRCh37 6 26384079 26384079 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 157 27 202 0 ENST00000356709.4:c.30C>T p.Ser10= p.S10= ENST00000356709 NM_001197240.1 10 tcC/tcT 0 -BTNL8 UCSF GRCh37 5 180376252 180376252 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 5 41 0 ENST00000340184.4:c.849C>T p.Ala283= p.A283= ENST00000340184 NM_001040462.2 283 gcC/gcT 0 -BTRC UCSF GRCh37 10 103310583 103310583 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 13 6 32 0 ENST00000370187.3:c.1784C>T p.Ser595Phe p.S595F ENST00000370187 NM_033637.3 595 tCc/tTc 0 -BZRAP1 UCSF GRCh37 17 56388331 56388331 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 7 96 0 ENST00000343736.4:c.3325C>T p.Pro1109Ser p.P1109S ENST00000343736 1109 Cct/Tct 0 -LCOR UCSF GRCh37 10 98743405 98743405 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 12 217 0 ENST00000286067.2:c.2258C>T p.Ala753Val p.A753V ENST00000286067 NM_015652.2 753 gCt/gTt 0 -LCOR UCSF GRCh37 10 98744660 98744660 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 4 94 0 ENST00000286067.2:c.3513G>A p.Arg1171= p.R1171= ENST00000286067 NM_015652.2 1171 agG/agA 0 -C10orf71 UCSF GRCh37 10 50534068 50534068 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 45 111 0 ENST00000374144.3:c.3478C>T p.Pro1160Ser p.P1160S ENST00000374144 1160 Cct/Tct 0 -C10orf71 UCSF GRCh37 10 50534110 50534110 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 8 99 0 ENST00000374144.3:c.3520C>T p.Pro1174Ser p.P1174S ENST00000374144 1174 Cca/Tca 0 -C10orf76 UCSF GRCh37 10 103753294 103753294 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 7 129 0 ENST00000370033.4:c.1275+1G>A p.X425_splice ENST00000370033 NM_024541.2 0 -C11orf24 UCSF GRCh37 11 68029451 68029451 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 26 186 0 ENST00000304271.6:c.1012C>T p.Pro338Ser p.P338S ENST00000304271 NM_022338.3 338 Cca/Tca 0 -C11orf35 UCSF GRCh37 11 557923 557923 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 7 33 0 ENST00000329451.3:c.516G>A p.Trp172Ter p.W172* ENST00000329451 NM_173573.2 172 tgG/tgA 0 -C12orf10 UCSF GRCh37 12 53696882 53696882 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 10 62 0 ENST00000267103.5:c.394G>A p.Ala132Thr p.A132T ENST00000267103 NM_021640.3 132 Gcg/Acg 0 -C12orf48 UCSF GRCh37 12 102542166 102542166 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 175 24 274 0 ENST00000358383.5:c.312G>A p.Met104Ile p.M104I ENST00000358383 104 atG/atA 0 -C12orf51 UCSF GRCh37 12 112623136 112623136 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 8 47 0 ENST00000550722.1:c.9196C>T p.Leu3066= p.L3066= ENST00000550722 NM_001109662.3 3066 Ctg/Ttg 0 -C12orf68 UCSF GRCh37 12 48578225 48578225 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 33 196 0 ENST00000316554.3:c.320G>A p.Gly107Asp p.G107D ENST00000316554 NM_001013635.3 107 gGc/gAc 0 -C13orf16 UCSF GRCh37 13 111995112 111995112 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 134 30 221 0 ENST00000283547.1:c.249G>A p.Gln83= p.Q83= ENST00000283547 NM_152324.1 83 caG/caA 0 -C14orf182 UCSF GRCh37 14 50472417 50472417 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 287 41 452 0 ENST00000399206.1:c.101C>T p.Ala34Val p.A34V ENST00000399206 NM_001012706.1 34 gCc/gTc 0 -C14orf183 UCSF GRCh37 14 50558446 50558446 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 14 165 0 ENST00000305273.1:c.122C>T p.Pro41Leu p.P41L ENST00000305273 NM_001014830.1 41 cCc/cTc 0 -C14orf37 UCSF GRCh37 14 58604864 58604864 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 25 215 0 ENST00000267485.7:c.1213G>A p.Glu405Lys p.E405K ENST00000267485 NM_001001872.2 405 Gaa/Aaa 0 -C15orf33 UCSF GRCh37 15 49907317 49907317 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 33 263 0 ENST00000299338.6:c.51+1G>A p.X17_splice ENST00000299338 NM_152647.2 0 -C15orf42 UCSF GRCh37 15 90150057 90150057 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 19 197 0 ENST00000268138.7:c.2722+1G>A p.X908_splice ENST00000268138 0 -C15orf59 UCSF GRCh37 15 74032417 74032417 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 12 144 0 ENST00000569673.1:c.723G>A p.Arg241= p.R241= ENST00000569673 241 cgG/cgA 0 -C17orf101 UCSF GRCh37 17 80373362 80373362 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 248 53 363 0 ENST00000329197.5:c.216G>A p.Glu72= p.E72= ENST00000329197 72 gaG/gaA 0 -C17orf39 UCSF GRCh37 17 17943049 17943049 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 4 45 0 ENST00000268719.4:c.271C>T p.Pro91Ser p.P91S ENST00000268719 NM_024052.4 91 Ccc/Tcc 0 -SEPTIN4 UCSF GRCh37 17 56621224 56621224 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 191 111 400 0 ENST00000321691.3:c.324G>A p.Lys108= p.K108= ENST00000321691 NM_001038704.2 108 aaG/aaA 0 -C17orf51 UCSF GRCh37 17 21454409 21454409 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 14 95 0 ENST00000391411.5:c.277C>T p.Leu93= p.L93= ENST00000391411 NM_001113434.3 93 Ctg/Ttg 0 -C17orf53 UCSF GRCh37 17 42225701 42225701 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 9 87 0 ENST00000319977.4:c.530G>A p.Gly177Glu p.G177E ENST00000319977 NM_024032.3 177 gGa/gAa 0 -C17orf75 UCSF GRCh37 17 30662460 30662460 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 29 203 1 ENST00000577809.1:c.551C>T p.Ala184Val p.A184V ENST00000577809 NM_022344.3 184 gCa/gTa 0 -C17orf80 UCSF GRCh37 17 71232924 71232924 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 249 35 320 0 ENST00000359042.2:c.1303G>A p.Ala435Thr p.A435T ENST00000359042 NM_017941.4 435 Gcc/Acc 0 -LIAT1 UCSF GRCh37 17 263205 263205 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 30 180 0 ENST00000360127.6:c.571C>T p.Leu191= p.L191= ENST00000360127 NM_001013672.4 191 Ctg/Ttg 0 -C18orf8 UCSF GRCh37 18 21098917 21098917 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 13 44 0 ENST00000269221.3:c.717G>A p.Ala239= p.A239= ENST00000269221 NM_013326.4 239 gcG/gcA 0 -C19orf29 UCSF GRCh37 19 3623943 3623943 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 193 70 208 0 ENST00000429344.2:c.385G>A p.Ala129Thr p.A129T ENST00000429344 NM_001080543.1 129 Gcg/Acg 0 -C19orf29 UCSF GRCh37 19 3623985 3623985 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 12 112 0 ENST00000429344.2:c.343G>A p.Ala115Thr p.A115T ENST00000429344 NM_001080543.1 115 Gca/Aca 0 -C19orf29 UCSF GRCh37 19 3613530 3613530 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 136 17 145 0 ENST00000429344.2:c.1410G>A p.Gln470= p.Q470= ENST00000429344 NM_001080543.1 470 caG/caA 0 -C1orf106 UCSF GRCh37 1 200876961 200876961 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 4 23 0 ENST00000413687.2:c.521-1G>A p.X174_splice ENST00000413687 NM_001142569.2 0 -C1orf127 UCSF GRCh37 1 11007896 11007896 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 12 101 0 ENST00000377004.4:c.2296C>T p.Pro766Ser p.P766S ENST00000377004 NM_001170754.1 766 Ccc/Tcc 0 -C1orf141 UCSF GRCh37 1 67592920 67592920 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 328 54 571 1 ENST00000371007.2:c.4G>A p.Ala2Thr p.A2T ENST00000371007 2 Gca/Aca 0 -C1orf173 UCSF GRCh37 1 75055443 75055443 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 32 299 0 ENST00000326665.5:c.2048G>A p.Gly683Asp p.G683D ENST00000326665 NM_001002912.4 683 gGt/gAt 0 -C1orf63 UCSF GRCh37 1 25573350 25573350 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 26 190 0 ENST00000243189.7:c.105G>A p.Arg35= p.R35= ENST00000243189 NM_020317.3 35 agG/agA 0 -C1orf65 UCSF GRCh37 1 223568113 223568113 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 4 17 0 ENST00000366875.3:c.1296C>T p.Ala432= p.A432= ENST00000366875 NM_152610.2 432 gcC/gcT 0 -C1S UCSF GRCh37 12 7173913 7173913 + synonymous_variant Silent SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 23 126 0 ENST00000406697.1:c.963T>C p.Cys321= p.C321= ENST00000406697 321 tgT/tgC 0 -C2 UCSF GRCh37 6 31905227 31905227 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 5 35 0 ENST00000299367.5:c.1120C>T p.Leu374= p.L374= ENST00000299367 NM_000063.4 374 Ctg/Ttg 0 -C20orf132 UCSF GRCh37 20 35788532 35788532 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 284 46 412 0 ENST00000343811.4:c.776C>T p.Arg259= p.R259= ENST00000343811 NM_152503.4 259 cgC/cgT 0 -C20orf177 UCSF GRCh37 20 58519916 58519916 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 13 160 0 ENST00000358293.3:c.918G>A p.Trp306Ter p.W306* ENST00000358293 NM_001190826.1 306 tgG/tgA 0 -C20orf3 UCSF GRCh37 20 24950902 24950902 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 32 251 0 ENST00000217456.2:c.644C>T p.Thr215Ile p.T215I ENST00000217456 NM_020531.2 215 aCc/aTc 0 -C22orf29 UCSF GRCh37 22 19839202 19839202 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 183 22 241 0 ENST00000405640.1:c.583C>T p.Pro195Ser p.P195S ENST00000405640 195 Ccc/Tcc 0 -C2orf15 UCSF GRCh37 2 99766983 99766983 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 19 180 0 ENST00000302513.2:c.64G>A p.Val22Ile p.V22I ENST00000302513 NM_144706.2 22 Gta/Ata 0 -C2orf16 UCSF GRCh37 2 27802966 27802966 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 217 28 342 1 ENST00000408964.2:c.3527C>T p.Ser1176Phe p.S1176F ENST00000408964 NM_032266.3 1176 tCc/tTc 0 -C2orf16 UCSF GRCh37 2 27802761 27802761 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 379 67 584 0 ENST00000408964.2:c.3322C>T p.Pro1108Ser p.P1108S ENST00000408964 NM_032266.3 1108 Cca/Tca 0 -C2orf28 UCSF GRCh37 2 27439390 27439390 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 16 154 0 ENST00000380171.3:c.653-1G>A p.X218_splice ENST00000380171 NM_080592.3 0 -C2orf29 UCSF GRCh37 2 101869740 101869740 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 11 143 0 ENST00000289382.3:c.314G>A p.Gly105Asp p.G105D ENST00000289382 NM_017546.4 105 gGc/gAc 0 -C2orf65 UCSF GRCh37 2 74785967 74785967 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 285 52 380 0 ENST00000290536.5:c.1469C>T p.Thr490Ile p.T490I ENST00000290536 NM_138804.4 490 aCt/aTt 0 -C3orf17 UCSF GRCh37 3 112730247 112730247 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 37 256 0 ENST00000314400.5:c.558C>T p.Leu186= p.L186= ENST00000314400 NM_015412.3 186 ctC/ctT 0 -C3orf25 UCSF GRCh37 3 129120583 129120583 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 4 28 0 ENST00000505956.1:c.1572C>T p.Asp524= p.D524= ENST00000505956 NM_207307.1 524 gaC/gaT 0 -C3orf58 UCSF GRCh37 3 143708377 143708377 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 17 185 0 ENST00000315691.3:c.987G>A p.Trp329Ter p.W329* ENST00000315691 NM_173552.3 329 tgG/tgA 0 -C3orf77 UCSF GRCh37 3 44310793 44310793 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 14 115 0 ENST00000309765.4:c.3246G>A p.Gly1082= p.G1082= ENST00000309765 NM_001145030.1 1082 ggG/ggA 0 -C4BPB UCSF GRCh37 1 207271536 207271536 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 21 202 0 ENST00000243611.5:c.545G>A p.Gly182Glu p.G182E ENST00000243611 NM_000716.3 182 gGg/gAg 0 -C4orf14 UCSF GRCh37 4 57843376 57843376 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 39 219 0 ENST00000264230.4:c.376G>A p.Val126Ile p.V126I ENST00000264230 NM_032313.2 126 Gtc/Atc 0 -C4orf17 UCSF GRCh37 4 100443827 100443827 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 10 42 0 ENST00000326581.4:c.298G>A p.Ala100Thr p.A100T ENST00000326581 NM_032149.2 100 Gcc/Acc 0 -C4orf21 UCSF GRCh37 4 113538832 113538832 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 342 48 507 0 ENST00000505019.1:c.2366G>A p.Gly789Glu p.G789E ENST00000505019 NM_018392.4 789 gGa/gAa 0 -C5orf34 UCSF GRCh37 5 43503809 43503809 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 228 26 317 0 ENST00000306862.2:c.986C>T p.Pro329Leu p.P329L ENST00000306862 NM_198566.2 329 cCt/cTt 0 -C5orf35 UCSF GRCh37 5 56205488 56205488 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 18 144 0 ENST00000285947.2:c.16C>T p.Leu6= p.L6= ENST00000285947 NM_153706.3 6 Ctg/Ttg 0 -C5orf42 UCSF GRCh37 5 37244646 37244646 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 58 220 0 ENST00000425232.2:c.401C>T p.Pro134Leu p.P134L ENST00000425232 NM_023073.3 134 cCt/cTt 0 -C5orf54 UCSF GRCh37 5 159820941 159820941 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 293 47 412 0 ENST00000408953.3:c.1557C>T p.Ala519= p.A519= ENST00000408953 NM_022090.3 519 gcC/gcT 0 -C6orf106 UCSF GRCh37 6 34664256 34664256 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 7 77 1 ENST00000374023.3:c.125C>T p.Ala42Val p.A42V ENST00000374023 NM_024294.2 42 gCc/gTc 0 -C6orf203 UCSF GRCh37 6 107372309 107372309 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 7 59 0 ENST00000443043.1:c.607G>A p.Ala203Thr p.A203T ENST00000443043 NM_001142470.1 203 Gca/Aca 0 -C6orf25 UCSF GRCh37 6 31691969 31691969 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 191 39 296 0 ENST00000375806.2:c.460C>T p.Leu154Phe p.L154F ENST00000375806 154 Ctc/Ttc 0 -C6orf27 UCSF GRCh37 6 31737510 31737510 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 14 51 0 ENST00000375688.4:c.1259C>T p.Pro420Leu p.P420L ENST00000375688 420 cCc/cTc 0 -C7orf36 UCSF GRCh37 7 39612265 39612265 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 16 195 0 ENST00000223273.2:c.641G>A p.Gly214Asp p.G214D ENST00000223273 NM_020192.3 214 gGc/gAc 0 -C7orf47 UCSF GRCh37 7 100032988 100032988 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 11 93 0 ENST00000292330.2:c.757G>A p.Ala253Thr p.A253T ENST00000292330 NM_145030.2 253 Gcg/Acg 0 -C7orf70 UCSF GRCh37 7 6370050 6370050 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 18 117 0 ENST00000313324.4:c.736G>A p.Ala246Thr p.A246T ENST00000313324 NM_001037163.1 246 Gct/Act 0 -C9orf139 UCSF GRCh37 9 139929283 139929283 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 199 34 237 0 ENST00000314330.2:c.350C>T p.Pro117Leu p.P117L ENST00000314330 NM_207511.1 117 cCc/cTc 0 -C9orf140 UCSF GRCh37 9 139960809 139960809 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 15 123 0 ENST00000409687.3:c.589G>A p.Ala197Thr p.A197T ENST00000409687 NM_178448.3 197 Gcc/Acc 0 -C9orf156 UCSF GRCh37 9 100672771 100672771 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 13 136 0 ENST00000375119.3:c.537G>A p.Gln179= p.Q179= ENST00000375119 NM_016481.3 179 caG/caA 0 -C9orf169 UCSF GRCh37 9 140120399 140120399 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 11 138 0 ENST00000359069.2:c.326G>A p.Gly109Glu p.G109E ENST00000359069 NM_199001.2 109 gGg/gAg 0 -S1PR3 UCSF GRCh37 9 91606069 91606069 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 15 127 0 ENST00000334490.5:c.159C>T p.Phe53= p.F53= ENST00000334490 53 ttC/ttT 0 -C9orf68 UCSF GRCh37 9 4622455 4622455 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 14 88 0 ENST00000475086.1:c.551C>T p.Ser184Phe p.S184F ENST00000475086 NM_001039395.3 184 tCt/tTt 0 -C9orf86 UCSF GRCh37 9 139731824 139731824 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 3 25 0 ENST00000371663.4:c.839G>A p.Ser280Asn p.S280N ENST00000371663 NM_001173988.1 280 aGc/aAc 0 -CABIN1 UCSF GRCh37 22 24456476 24456476 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 144 28 195 0 ENST00000398319.2:c.1489C>T p.His497Tyr p.H497Y ENST00000398319 NM_001199281.1 497 Cac/Tac 0 -CACHD1 UCSF GRCh37 1 65117844 65117844 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 19 149 0 ENST00000290039.5:c.1238G>A p.Gly413Asp p.G413D ENST00000290039 NM_020925.2 413 gGt/gAt 0 -CACNA1A UCSF GRCh37 19 13340982 13340982 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 14 99 0 ENST00000360228.5:c.5442G>A p.Glu1814= p.E1814= ENST00000360228 NM_001127222.1 1814 gaG/gaA 0 -CACNA1E UCSF GRCh37 1 181701955 181701955 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 8 84 0 ENST00000367573.2:c.2733G>A p.Arg911= p.R911= ENST00000367573 NM_001205293.1 911 cgG/cgA 0 -CACNA1F UCSF GRCh37 X 49063214 49063214 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 7 78 0 ENST00000376265.2:c.5367C>T p.Arg1789= p.R1789= ENST00000376265 NM_005183.2 1789 cgC/cgT 0 -CACNA2D2 UCSF GRCh37 3 50425020 50425020 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 7 63 1 ENST00000479441.1:c.489C>T p.Asp163= p.D163= ENST00000479441 163 gaC/gaT 0 -CACNA2D4 UCSF GRCh37 12 1969357 1969357 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 29 234 0 ENST00000382722.5:c.1894C>T p.Leu632= p.L632= ENST00000382722 NM_172364.4 632 Ctg/Ttg 0 -CACNB4 UCSF GRCh37 2 152698533 152698533 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 212 38 307 0 ENST00000539935.1:c.1186G>A p.Glu396Lys p.E396K ENST00000539935 NM_001145798.1 396 Gag/Aag 0 -CAD UCSF GRCh37 2 27448004 27448004 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 85 191 0 ENST00000264705.4:c.1513C>T p.Pro505Ser p.P505S ENST00000264705 NM_004341.3 505 Cca/Tca 0 -CALCR UCSF GRCh37 7 93067438 93067438 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 11 112 0 ENST00000359558.2:c.966C>T p.Asn322= p.N322= ENST00000359558 NM_001164737.1 322 aaC/aaT 0 -CALCRL UCSF GRCh37 2 188217005 188217005 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 23 228 0 ENST00000409998.1:c.964G>A p.Val322Ile p.V322I ENST00000409998 322 Gtt/Att 0 -CALD1 UCSF GRCh37 7 134625943 134625943 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 26 97 0 ENST00000361675.2:c.1487G>A p.Gly496Glu p.G496E ENST00000361675 496 gGa/gAa 0 -CALR3 UCSF GRCh37 19 16596053 16596053 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 31 233 0 ENST00000269881.3:c.413G>A p.Gly138Glu p.G138E ENST00000269881 NM_145046.4 138 gGa/gAa 0 -CAMKK1 UCSF GRCh37 17 3785649 3785649 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 132 26 160 0 ENST00000158166.5:c.701C>T p.Ala234Val p.A234V ENST00000158166 NM_172207.2 234 gCc/gTc 0 -CAMT-ND2 UCSF GRCh37 3 12854500 12854500 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 8 85 0 ENST00000456430.2:c.769G>A p.Asp257Asn p.D257N ENST00000456430 NM_001162499.1 257 Gac/Aac 0 -CAPG UCSF GRCh37 2 85628372 85628372 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 15 172 0 ENST00000263867.4:c.432G>A p.Gly144= p.G144= ENST00000263867 NM_001256140.1 144 ggG/ggA 0 -CAPN1 UCSF GRCh37 11 64951005 64951005 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 22 131 0 ENST00000527323.1:c.398G>A p.Arg133Gln p.R133Q ENST00000527323 133 cGa/cAa 0 -CARD10 UCSF GRCh37 22 37902215 37902215 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 18 0 ENST00000403299.1:c.1367G>A p.Gly456Asp p.G456D ENST00000403299 456 gGt/gAt 0 -CARD10 UCSF GRCh37 22 37903890 37903890 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 18 115 0 ENST00000403299.1:c.1137C>T p.His379= p.H379= ENST00000403299 379 caC/caT 0 -CARD14 UCSF GRCh37 17 78165266 78165266 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 5 52 0 ENST00000573882.1:c.1234G>A p.Gly412Ser p.G412S ENST00000573882 412 Ggt/Agt 0 -CARD14 UCSF GRCh37 17 78166319 78166319 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 6 46 0 ENST00000573882.1:c.1257G>A p.Arg419= p.R419= ENST00000573882 419 agG/agA 0 -CARD8 UCSF GRCh37 19 48733713 48733713 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 25 239 0 ENST00000391898.3:c.1017C>T p.Ser339= p.S339= ENST00000391898 NM_001184900.1 339 agC/agT 0 -CARD8 UCSF GRCh37 19 48734242 48734242 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 4 63 0 ENST00000391898.3:c.564C>T p.Gly188= p.G188= ENST00000391898 NM_001184900.1 188 ggC/ggT 0 -CARM1 UCSF GRCh37 19 11022892 11022892 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 401 151 508 0 ENST00000327064.4:c.591C>T p.Ile197= p.I197= ENST00000327064 NM_199141.1 197 atC/atT 0 -CARS UCSF GRCh37 11 3028116 3028116 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 16 193 0 ENST00000380525.4:c.2142C>T p.Asp714= p.D714= ENST00000380525 NM_001194997.1 714 gaC/gaT 0 -CASKIN1 UCSF GRCh37 16 2230836 2230836 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 5 51 0 ENST00000343516.6:c.2533G>A p.Gly845Arg p.G845R ENST00000343516 NM_020764.3 845 Ggg/Agg 0 -CASKIN2 UCSF GRCh37 17 73498124 73498124 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 17 111 0 ENST00000321617.3:c.3031G>A p.Val1011Met p.V1011M ENST00000321617 NM_020753.4 1011 Gtg/Atg 0 -CASKIN2 UCSF GRCh37 17 73509868 73509868 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 214 47 296 0 ENST00000321617.3:c.18C>T p.Asp6= p.D6= ENST00000321617 NM_020753.4 6 gaC/gaT 0 -CASP1 UCSF GRCh37 11 104897673 104897673 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 20 165 0 ENST00000533400.1:c.1012G>A p.Val338Ile p.V338I ENST00000533400 NM_001257118.1 338 Gtt/Att 0 -CASP8AP2 UCSF GRCh37 6 90562942 90562942 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 33 241 0 ENST00000551025.1:n.1550G>A *517* ENST00000551025 0 -CBFA2T2 UCSF GRCh37 20 32212628 32212628 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 41 305 0 ENST00000346541.3:c.778G>A p.Val260Ile p.V260I ENST00000346541 NM_005093.3 260 Gta/Ata 0 -CBL UCSF GRCh37 11 119145623 119145623 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 12 104 0 ENST00000264033.4:c.829G>A p.Val277Met p.V277M ENST00000264033 NM_005188.3 277 Gtg/Atg 0 -CBX2 UCSF GRCh37 17 77758206 77758206 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 18 141 0 ENST00000310942.4:c.964G>A p.Gly322Arg p.G322R ENST00000310942 NM_005189.2 322 Ggg/Agg 0 -CBX6 UCSF GRCh37 22 39262663 39262663 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 13 59 0 ENST00000407418.3:c.790C>T p.Pro264Ser p.P264S ENST00000407418 264 Ccc/Tcc 0 -CCBE1 UCSF GRCh37 18 57107014 57107014 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 6 37 0 ENST00000439986.4:c.810C>T p.Pro270= p.P270= ENST00000439986 NM_133459.3 270 ccC/ccT 0 -CCDC108 UCSF GRCh37 2 219903674 219903674 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 9 70 0 ENST00000341552.5:c.97C>T p.Leu33Phe p.L33F ENST00000341552 NM_194302.3 33 Ctc/Ttc 0 -CCDC112 UCSF GRCh37 5 114612683 114612683 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 9 80 0 ENST00000379611.5:c.430G>A p.Asp144Asn p.D144N ENST00000379611 NM_001040440.2 144 Gat/Aat 0 -CCDC113 UCSF GRCh37 16 58312424 58312424 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 7 36 0 ENST00000219299.4:c.930G>A p.Arg310= p.R310= ENST00000219299 NM_014157.3 310 cgG/cgA 0 -CCDC13 UCSF GRCh37 3 42798628 42798628 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 263 35 374 0 ENST00000310232.6:c.300G>A p.Leu100= p.L100= ENST00000310232 NM_144719.3 100 ctG/ctA 0 -CCDC157 UCSF GRCh37 22 30771592 30771592 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 116 21 115 0 ENST00000405659.1:c.1797C>T p.Asn599= p.N599= ENST00000405659 599 aaC/aaT 0 -CCDC158 UCSF GRCh37 4 77288491 77288491 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 12 141 0 ENST00000388914.3:c.1786G>A p.Glu596Lys p.E596K ENST00000388914 NM_001042784.1 596 Gag/Aag 0 -CCDC169 UCSF GRCh37 13 36869981 36869981 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 30 282 0 ENST00000503173.1:c.97C>T p.Leu33Phe p.L33F ENST00000503173 NM_001198908.1 33 Ctc/Ttc 0 -CCDC28A UCSF GRCh37 6 139100982 139100982 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 7 55 0 ENST00000332797.6:c.452C>T p.Pro151Leu p.P151L ENST00000332797 NM_015439.2 151 cCt/cTt 0 -CCDC42B UCSF GRCh37 12 113592333 113592333 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 3 19 0 ENST00000335621.6:c.583C>T p.Leu195= p.L195= ENST00000335621 NM_001144872.1 195 Ctg/Ttg 0 -CCDC48 UCSF GRCh37 3 128758672 128758672 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 337 38 446 0 ENST00000480450.1:c.1778C>T p.Pro593Leu p.P593L ENST00000480450 593 cCc/cTc 0 -CCDC67 UCSF GRCh37 11 93127823 93127823 + splice_donor_variant Splice_Site SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 4 34 0 ENST00000298050.3:c.1239+1G>T p.X413_splice ENST00000298050 NM_181645.3 0 -CCDC70 UCSF GRCh37 13 52440126 52440126 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 11 140 0 ENST00000242819.4:c.612C>T p.Gly204= p.G204= ENST00000242819 NM_031290.2 204 ggC/ggT 0 -CCDC80 UCSF GRCh37 3 112358176 112358176 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 132 29 203 0 ENST00000206423.3:c.577G>A p.Ala193Thr p.A193T ENST00000206423 NM_199512.1 193 Gca/Aca 0 -CCDC87 UCSF GRCh37 11 66360341 66360341 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 43 133 0 ENST00000333861.3:c.146C>T p.Pro49Leu p.P49L ENST00000333861 NM_018219.2 49 cCt/cTt 0 -CCDC88B UCSF GRCh37 11 64117117 64117117 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 6 42 0 ENST00000356786.5:c.2839C>T p.Gln947Ter p.Q947* ENST00000356786 NM_032251.5 947 Cag/Tag 0 -CCDC88B UCSF GRCh37 11 64111020 64111020 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 204 43 296 0 ENST00000356786.5:c.1251G>A p.Glu417= p.E417= ENST00000356786 NM_032251.5 417 gaG/gaA 0 -CCDC96 UCSF GRCh37 4 7044063 7044063 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 708 115 847 1 ENST00000310085.4:c.603C>T p.Leu201= p.L201= ENST00000310085 NM_153376.2 201 ctC/ctT 0 -CCKBR UCSF GRCh37 11 6281250 6281250 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 5 57 0 ENST00000334619.2:c.92G>A p.Ser31Asn p.S31N ENST00000334619 NM_176875.3 31 aGc/aAc 0 -CCNE1 UCSF GRCh37 19 30313252 30313252 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 173 27 276 0 ENST00000262643.3:c.946G>A p.Val316Ile p.V316I ENST00000262643 NM_001238.2 316 Gtt/Att 0 -CCPG1 UCSF GRCh37 15 55669234 55669234 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 46 154 0 ENST00000442196.3:c.367G>A p.Val123Ile p.V123I ENST00000442196 123 Gtc/Atc 0 -CCPG1 UCSF GRCh37 15 55652252 55652252 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 233 31 398 0 ENST00000442196.3:c.1719G>A p.Gln573= p.Q573= ENST00000442196 573 caG/caA 0 -CCR4 UCSF GRCh37 3 32994996 32994996 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 22 196 0 ENST00000330953.5:c.82C>T p.Pro28Ser p.P28S ENST00000330953 NM_005508.4 28 Cct/Tct 0 -CCT7 UCSF GRCh37 2 73470250 73470250 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 404 73 563 0 ENST00000258091.5:c.386C>T p.Thr129Ile p.T129I ENST00000258091 NM_006429.3 129 aCc/aTc 0 -CCT7 UCSF GRCh37 2 73471671 73471671 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 13 132 0 ENST00000258091.5:c.447-1G>A p.X149_splice ENST00000258091 NM_006429.3 0 -CD101 UCSF GRCh37 1 117559842 117559842 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 10 67 0 ENST00000256652.4:c.1359C>T p.Asp453= p.D453= ENST00000256652 NM_004258.5 453 gaC/gaT 0 -CD19 UCSF GRCh37 16 28946795 28946795 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 26 239 0 ENST00000538922.1:c.866G>A p.Gly289Asp p.G289D ENST00000538922 NM_001178098.1 289 gGc/gAc 0 -CD1E UCSF GRCh37 1 158325748 158325748 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 4 57 0 ENST00000368167.3:c.757G>A p.Gly253Ser p.G253S ENST00000368167 NM_030893.3 253 Ggc/Agc 0 -CD22 UCSF GRCh37 19 35837562 35837562 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 17 195 0 ENST00000085219.5:c.2506G>A p.Ala836Thr p.A836T ENST00000085219 NM_001771.3 836 Gca/Aca 0 -CD248 UCSF GRCh37 11 66084293 66084293 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 5 38 1 ENST00000311330.3:c.206G>A p.Arg69His p.R69H ENST00000311330 NM_020404.2 69 cGt/cAt 0 -CD300LB UCSF GRCh37 17 72522017 72522017 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 369 47 545 0 ENST00000392621.1:c.351C>T p.Asp117= p.D117= ENST00000392621 NM_174892.3 117 gaC/gaT 0 -CD300LG UCSF GRCh37 17 41932684 41932684 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 30 248 0 ENST00000317310.4:c.829G>A p.Glu277Lys p.E277K ENST00000317310 NM_145273.3 277 Gaa/Aaa 0 -CD79B UCSF GRCh37 17 62009612 62009612 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 4 39 0 ENST00000392795.3:c.10C>T p.Leu4= p.L4= ENST00000392795 NM_001039933.1 4 Ctg/Ttg 0 -CD82 UCSF GRCh37 11 44640662 44640662 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 323 72 468 0 ENST00000227155.4:c.790G>A p.Val264Ile p.V264I ENST00000227155 NM_002231.3 264 Gtc/Atc 0 -CD86 UCSF GRCh37 3 121838324 121838324 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 14 74 0 ENST00000330540.2:c.933G>A p.Gln311= p.Q311= ENST00000330540 NM_175862.4 311 caG/caA 0 -CDADC1 UCSF GRCh37 13 49822220 49822220 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 5 24 0 ENST00000251108.6:c.47G>A p.Gly16Glu p.G16E ENST00000251108 NM_001193478.1 16 gGg/gAg 0 -CDAN1 UCSF GRCh37 15 43017755 43017755 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 17 112 0 ENST00000356231.3:c.3382C>T p.Pro1128Ser p.P1128S ENST00000356231 NM_138477.2 1128 Ccg/Tcg 0 -CDAN1 UCSF GRCh37 15 43028098 43028098 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 37 232 0 ENST00000356231.3:c.748G>A p.Glu250Lys p.E250K ENST00000356231 NM_138477.2 250 Gag/Aag 0 -CDC14A UCSF GRCh37 1 100889822 100889822 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 351 58 561 0 ENST00000361544.6:c.354C>T p.Leu118= p.L118= ENST00000361544 NM_033312.2 118 ctC/ctT 0 -CDC42BPA UCSF GRCh37 1 227219128 227219128 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 255 43 401 0 ENST00000366769.3:c.3541G>A p.Gly1181Arg p.G1181R ENST00000366769 NM_003607.3 1181 Gga/Aga 0 -CDC42BPA UCSF GRCh37 1 227300117 227300117 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 22 235 0 ENST00000366769.3:c.1897G>A p.Val633Ile p.V633I ENST00000366769 NM_003607.3 633 Gtt/Att 0 -CDC42EP4 UCSF GRCh37 17 71281979 71281979 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 29 226 0 ENST00000335793.3:c.661G>A p.Val221Ile p.V221I ENST00000335793 221 Gtc/Atc 0 -CDC5L UCSF GRCh37 6 44360425 44360425 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 8 45 0 ENST00000371477.3:c.171C>T p.Ser57= p.S57= ENST00000371477 NM_001253.3 57 agC/agT 0 -CDC6 UCSF GRCh37 17 38447468 38447468 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 174 93 354 0 ENST00000209728.4:c.337G>A p.Ala113Thr p.A113T ENST00000209728 NM_001254.3 113 Gcc/Acc 0 -CDCA7L UCSF GRCh37 7 21947778 21947778 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 6 35 0 ENST00000406877.3:c.651G>A p.Arg217= p.R217= ENST00000406877 NM_018719.4 217 agG/agA 0 -CDH11 UCSF GRCh37 16 64984895 64984895 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 6 84 0 ENST00000268603.4:c.1669C>T p.Arg557Cys p.R557C ENST00000268603 NM_001797.2 557 Cgt/Tgt 0 -CDH23 UCSF GRCh37 10 73437447 73437447 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 7 8 35 0 ENST00000224721.6:c.1764C>T p.Leu588= p.L588= ENST00000224721 NM_022124.5 588 ctC/ctT 0 -CDH6 UCSF GRCh37 5 31302331 31302331 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 10 93 0 ENST00000265071.2:c.925G>A p.Asp309Asn p.D309N ENST00000265071 NM_004932.3 309 Gac/Aac 0 -CDH7 UCSF GRCh37 18 63477089 63477089 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 8 103 0 ENST00000397968.2:c.360C>T p.Leu120= p.L120= ENST00000397968 NM_004361.2 120 ctC/ctT 0 -CDHR5 UCSF GRCh37 11 618993 618993 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 11 61 0 ENST00000358353.3:c.1566G>A p.Pro522= p.P522= ENST00000358353 522 ccG/ccA 0 -CDK19 UCSF GRCh37 6 110953334 110953334 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 27 359 0 ENST00000368911.3:c.545C>T p.Ser182Phe p.S182F ENST00000368911 NM_015076.3 182 tCt/tTt 0 -CDK6 UCSF GRCh37 7 92247402 92247402 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 78 11 106 0 ENST00000265734.4:c.818G>A p.Gly273Asp p.G273D ENST00000265734 NM_001259.6 273 gGc/gAc 0 -CDKL3 UCSF GRCh37 5 133695755 133695755 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 7 42 0 ENST00000265334.4:c.193C>T p.Leu65= p.L65= ENST00000265334 NM_001113575.1 65 Ctg/Ttg 0 -CDKL4 UCSF GRCh37 2 39456661 39456661 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 289 47 439 0 ENST00000378803.1:c.13G>A p.Glu5Lys p.E5K ENST00000378803 NM_001009565.1 5 Gaa/Aaa 0 -CDS2 UCSF GRCh37 20 5157294 5157294 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 134 19 163 0 ENST00000460006.1:c.292G>A p.Val98Met p.V98M ENST00000460006 NM_003818.3 98 Gtg/Atg 0 -CDX2 UCSF GRCh37 13 28542701 28542701 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 11 82 0 ENST00000381020.7:c.443C>T p.Ala148Val p.A148V ENST00000381020 NM_001265.4 148 gCc/gTc 0 -CECR2 UCSF GRCh37 22 18021882 18021882 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 5 57 0 ENST00000262608.8:c.1987C>T p.Leu663= p.L663= ENST00000262608 NM_031413.3 663 Cta/Tta 0 -CELF6 UCSF GRCh37 15 72581778 72581778 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 21 112 0 ENST00000287202.5:c.818C>T p.Ala273Val p.A273V ENST00000287202 NM_052840.4 273 gCg/gTg 0 -CELSR2 UCSF GRCh37 1 109801126 109801126 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 13 107 0 ENST00000271332.3:c.3383G>A p.Ser1128Asn p.S1128N ENST00000271332 NM_001408.2 1128 aGc/aAc 0 -CELSR2 UCSF GRCh37 1 109806880 109806880 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 16 162 0 ENST00000271332.3:c.5182G>A p.Gly1728Ser p.G1728S ENST00000271332 NM_001408.2 1728 Ggc/Agc 0 -CELSR3 UCSF GRCh37 3 48698042 48698042 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 272 45 368 1 ENST00000164024.4:c.2026G>A p.Val676Ile p.V676I ENST00000164024 NM_001407.2 676 Gtc/Atc 0 -CELSR3 UCSF GRCh37 3 48681069 48681069 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 8 30 0 ENST00000164024.4:c.8207C>T p.Ala2736Val p.A2736V ENST00000164024 NM_001407.2 2736 gCc/gTc 0 -CENPB UCSF GRCh37 20 3766314 3766314 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 15 156 0 ENST00000379751.4:c.817G>A p.Ala273Thr p.A273T ENST00000379751 NM_001810.5 273 Gcc/Acc 0 -CENPO UCSF GRCh37 2 25016798 25016798 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 19 136 0 ENST00000380834.2:c.10G>A p.Ala4Thr p.A4T ENST00000380834 4 Gcg/Acg 0 -CEP112 UCSF GRCh37 17 64128857 64128857 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 15 136 0 ENST00000392769.2:c.495C>T p.Leu165= p.L165= ENST00000392769 NM_145036.3 165 ctC/ctT 0 -CEP135 UCSF GRCh37 4 56846433 56846433 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 25 96 0 ENST00000257287.4:c.1598G>A p.Arg533Lys p.R533K ENST00000257287 NM_025009.4 533 aGa/aAa 0 -CEP250 UCSF GRCh37 20 34092083 34092083 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 7 74 0 ENST00000397527.1:c.5886G>A p.Arg1962= p.R1962= ENST00000397527 NM_007186.3 1962 cgG/cgA 0 -CEP350 UCSF GRCh37 1 180059928 180059928 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 22 333 0 ENST00000367607.3:c.6505G>A p.Val2169Ile p.V2169I ENST00000367607 NM_014810.4 2169 Gtt/Att 0 -CEP85 UCSF GRCh37 1 26597537 26597537 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 116 23 159 1 ENST00000252992.4:c.1682G>A p.Ser561Asn p.S561N ENST00000252992 NM_022778.3 561 aGt/aAt 0 -CEP97 UCSF GRCh37 3 101450725 101450725 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 22 226 0 ENST00000341893.3:c.489G>A p.Met163Ile p.M163I ENST00000341893 163 atG/atA 0 -CFTR UCSF GRCh37 7 117232451 117232451 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 378 47 394 0 ENST00000003084.6:c.2230C>T p.Gln744Ter p.Q744* ENST00000003084 NM_000492.3 744 Cag/Tag 0 -CHD2 UCSF GRCh37 15 93540211 93540211 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 7 97 0 ENST00000394196.4:c.3620G>A p.Gly1207Asp p.G1207D ENST00000394196 NM_001271.3 1207 gGt/gAt 0 -CHD3 UCSF GRCh37 17 7806808 7806808 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 511 95 708 0 ENST00000380358.4:c.3891G>A p.Lys1297= p.K1297= ENST00000380358 NM_001005271.2 1297 aaG/aaA 0 -CHD8 UCSF GRCh37 14 21876526 21876526 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 12 147 0 ENST00000399982.2:c.2675G>A p.Ser892Asn p.S892N ENST00000399982 NM_001170629.1 892 aGt/aAt 0 -CHD9 UCSF GRCh37 16 53355489 53355489 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 10 134 0 ENST00000566029.1:c.7717G>A p.Glu2573Lys p.E2573K ENST00000566029 2573 Gaa/Aaa 0 -CHD9 UCSF GRCh37 16 53190970 53190970 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 236 44 387 0 ENST00000566029.1:c.969G>A p.Gln323= p.Q323= ENST00000566029 323 caG/caA 0 -CHFR UCSF GRCh37 12 133454233 133454233 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 8 118 0 ENST00000432561.2:c.141C>T p.Asp47= p.D47= ENST00000432561 47 gaC/gaT 0 -CHPF UCSF GRCh37 2 220404996 220404996 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 323 60 384 0 ENST00000243776.6:c.1437G>A p.Arg479= p.R479= ENST00000243776 NM_024536.5 479 cgG/cgA 0 -CHPF2 UCSF GRCh37 7 150934836 150934836 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 23 112 0 ENST00000035307.2:c.1388C>T p.Ala463Val p.A463V ENST00000035307 NM_019015.1 463 gCt/gTt 0 -CHRM4 UCSF GRCh37 11 46408064 46408064 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 224 32 293 0 ENST00000433765.2:c.44C>T p.Ser15Phe p.S15F ENST00000433765 NM_000741.2 15 tCc/tTc 0 -CHRNB2 UCSF GRCh37 1 154543944 154543944 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 298 39 370 0 ENST00000368476.3:c.645C>T p.Asn215= p.N215= ENST00000368476 NM_000748.2 215 aaC/aaT 0 -CHRNB2 UCSF GRCh37 1 154544313 154544313 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 266 31 310 0 ENST00000368476.3:c.1014C>T p.Val338= p.V338= ENST00000368476 NM_000748.2 338 gtC/gtT 0 -CHST12 UCSF GRCh37 7 2473490 2473490 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 39 415 0 ENST00000258711.6:c.1216C>T p.Pro406Ser p.P406S ENST00000258711 NM_001243794.1 406 Ccc/Tcc 0 -CHSY3 UCSF GRCh37 5 129240784 129240784 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 5 33 0 ENST00000305031.4:c.262C>T p.Leu88= p.L88= ENST00000305031 NM_175856.4 88 Ctg/Ttg 0 -CHUK UCSF GRCh37 10 101964296 101964296 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 48 386 0 ENST00000370397.7:c.1474G>A p.Glu492Lys p.E492K ENST00000370397 NM_001278.3 492 Gag/Aag 0 -CHURC1-FNTB UCSF GRCh37 14 65520017 65520017 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 16 141 0 ENST00000246166.2:c.1017C>T p.Ile339= p.I339= ENST00000246166 NM_002028.3 339 atC/atT 0 -CILP UCSF GRCh37 15 65490810 65490810 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 145 19 176 0 ENST00000261883.4:c.1814C>T p.Ser605Phe p.S605F ENST00000261883 NM_003613.3 605 tCc/tTc 0 -CITED2 UCSF GRCh37 6 139694288 139694288 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 495 89 625 0 ENST00000367651.2:c.794C>T p.Pro265Leu p.P265L ENST00000367651 NM_006079.4 265 cCc/cTc 0 -CKAP2L UCSF GRCh37 2 113514239 113514239 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 176 30 278 0 ENST00000302450.6:c.709C>T p.Leu237= p.L237= ENST00000302450 NM_152515.3 237 Ctg/Ttg 0 -CKM UCSF GRCh37 19 45810018 45810018 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 189 139 372 0 ENST00000221476.3:c.1136C>T p.Ala379Val p.A379V ENST00000221476 NM_001824.4 379 gCc/gTc 0 -CLCA2 UCSF GRCh37 1 86920950 86920950 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 332 63 560 0 ENST00000370565.4:c.2572G>A p.Glu858Lys p.E858K ENST00000370565 NM_006536.5 858 Gaa/Aaa 0 -CLCNKA UCSF GRCh37 1 16356567 16356567 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 8 72 0 ENST00000331433.4:c.1405G>A p.Ala469Thr p.A469T ENST00000331433 469 Gca/Aca 0 -CLDN25 UCSF GRCh37 11 113651151 113651151 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 323 63 433 0 ENST00000453129.2:c.634G>A p.Glu212Lys p.E212K ENST00000453129 NM_001101389.1 212 Gag/Aag 0 -CLEC10A UCSF GRCh37 17 6978505 6978505 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 116 24 158 0 ENST00000254868.4:c.819G>A p.Gly273= p.G273= ENST00000254868 NM_182906.2 273 ggG/ggA 0 -CLIP1 UCSF GRCh37 12 122825374 122825374 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 247 43 341 0 ENST00000540338.1:c.2377C>T p.Leu793Phe p.L793F ENST00000540338 793 Ctt/Ttt 0 -CLIP2 UCSF GRCh37 7 73787293 73787293 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 31 105 0 ENST00000223398.6:c.1412G>A p.Gly471Glu p.G471E ENST00000223398 NM_003388.4 471 gGg/gAg 0 -CLIP3 UCSF GRCh37 19 36508860 36508860 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 12 108 0 ENST00000360535.4:c.1217G>A p.Gly406Asp p.G406D ENST00000360535 NM_015526.2 406 gGc/gAc 0 -CLIP4 UCSF GRCh37 2 29366752 29366752 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 33 211 0 ENST00000320081.5:c.826G>A p.Ala276Thr p.A276T ENST00000320081 NM_024692.4 276 Gca/Aca 0 -CLK1 UCSF GRCh37 2 201719370 201719370 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 12 131 0 ENST00000434813.2:c.1315C>T p.Pro439Ser p.P439S ENST00000434813 NM_001162407.1 439 Cct/Tct 0 -CLNK UCSF GRCh37 4 10542122 10542122 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 356 66 489 1 ENST00000226951.6:c.598C>T p.Pro200Ser p.P200S ENST00000226951 NM_052964.2 200 Ccc/Tcc 0 -CLP1 UCSF GRCh37 11 57427059 57427059 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 101 311 0 ENST00000533682.1:c.111G>A p.Leu37= p.L37= ENST00000533682 37 ttG/ttA 0 -CLRN2 UCSF GRCh37 4 17528641 17528641 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 228 28 316 0 ENST00000511148.2:c.635C>T p.Pro212Leu p.P212L ENST00000511148 NM_001079827.2 212 cCc/cTc 0 -CLSPN UCSF GRCh37 1 36215397 36215397 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 34 0 ENST00000318121.3:c.2044C>T p.Leu682Phe p.L682F ENST00000318121 NM_022111.3 682 Ctt/Ttt 0 -CLSPN UCSF GRCh37 1 36213585 36213585 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 32 209 0 ENST00000318121.3:c.2550G>A p.Lys850= p.K850= ENST00000318121 NM_022111.3 850 aaG/aaA 0 -CLSTN2 UCSF GRCh37 3 140178480 140178480 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 176 28 222 1 ENST00000458420.3:c.1091C>T p.Ala364Val p.A364V ENST00000458420 NM_022131.2 364 gCc/gTc 0 -CLSTN2 UCSF GRCh37 3 140282922 140282922 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 19 166 0 ENST00000458420.3:c.2602G>A p.Ala868Thr p.A868T ENST00000458420 NM_022131.2 868 Gct/Act 0 -CLTCL1 UCSF GRCh37 22 19230420 19230420 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 21 232 0 ENST00000263200.10:c.559G>A p.Asp187Asn p.D187N ENST00000263200 NM_007098.3 187 Gat/Aat 0 -CLUAP1 UCSF GRCh37 16 3582786 3582786 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 30 225 0 ENST00000576634.1:c.1037G>A p.Gly346Glu p.G346E ENST00000576634 NM_015041.2 346 gGa/gAa 0 -CLVS2 UCSF GRCh37 6 123319024 123319024 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 132 31 202 0 ENST00000275162.5:c.102G>A p.Val34= p.V34= ENST00000275162 NM_001010852.3 34 gtG/gtA 0 -CMYA5 UCSF GRCh37 5 79030057 79030057 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 33 355 0 ENST00000446378.2:c.5469G>A p.Lys1823= p.K1823= ENST00000446378 NM_153610.3 1823 aaG/aaA 0 -CNR1 UCSF GRCh37 6 88854268 88854268 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 197 33 236 0 ENST00000537554.1:c.726C>T p.Thr242= p.T242= ENST00000537554 NM_001160258.1 242 acC/acT 0 -CNTN5 UCSF GRCh37 11 99715592 99715592 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 27 206 0 ENST00000524871.1:c.286G>A p.Asp96Asn p.D96N ENST00000524871 NM_014361.3 96 Gac/Aac 0 -CNTN5 UCSF GRCh37 11 99941273 99941273 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 3 18 0 ENST00000524871.1:c.1280G>A p.Gly427Glu p.G427E ENST00000524871 NM_014361.3 427 gGa/gAa 0 -CNTN6 UCSF GRCh37 3 1367580 1367580 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 208 31 312 0 ENST00000446702.2:c.1028G>A p.Gly343Glu p.G343E ENST00000446702 343 gGa/gAa 0 -COBL UCSF GRCh37 7 51096010 51096010 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 381 75 577 0 ENST00000265136.7:c.2783G>A p.Gly928Asp p.G928D ENST00000265136 NM_015198.3 928 gGt/gAt 0 -COBL UCSF GRCh37 7 51152960 51152960 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 14 57 0 ENST00000265136.7:c.999G>A p.Arg333= p.R333= ENST00000265136 NM_015198.3 333 cgG/cgA 0 -COG2 UCSF GRCh37 1 230829119 230829119 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 31 167 0 ENST00000366669.4:c.2197G>A p.Ala733Thr p.A733T ENST00000366669 NM_001145036.1 733 Gca/Aca 0 -COG2 UCSF GRCh37 1 230827142 230827142 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 13 164 0 ENST00000366669.4:c.1947C>T p.Thr649= p.T649= ENST00000366669 NM_001145036.1 649 acC/acT 0 -COL11A1 UCSF GRCh37 1 103352413 103352413 + missense_variant Missense_Mutation SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 20 210 0 ENST00000370096.3:c.4808C>A p.Pro1603Gln p.P1603Q ENST00000370096 NM_001854.3 1603 cCa/cAa 0 -COL11A2 UCSF GRCh37 6 33143431 33143431 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 19 107 0 ENST00000374708.4:c.2038G>A p.Gly680Arg p.G680R ENST00000374708 NM_080681.2 680 Gga/Aga 0 -COL12A1 UCSF GRCh37 6 75848226 75848226 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 167 24 228 0 ENST00000322507.8:c.5168C>T p.Ser1723Phe p.S1723F ENST00000322507 NM_004370.5 1723 tCc/tTc 0 -COL12A1 UCSF GRCh37 6 75893059 75893059 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 24 192 0 ENST00000322507.8:c.1598C>T p.Pro533Leu p.P533L ENST00000322507 NM_004370.5 533 cCt/cTt 0 -COL18A1 UCSF GRCh37 21 46925147 46925147 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 13 125 0 ENST00000355480.5:c.3508C>T p.Pro1170Ser p.P1170S ENST00000355480 NM_030582.3 1170 Cca/Tca 0 -COL20A1 UCSF GRCh37 20 61943349 61943349 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 9 65 0 ENST00000358894.6:c.1745G>A p.Arg582Lys p.R582K ENST00000358894 NM_020882.2 582 aGg/aAg 0 -COL20A1 UCSF GRCh37 20 61945187 61945187 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 9 99 0 ENST00000358894.6:c.2302G>A p.Val768Met p.V768M ENST00000358894 NM_020882.2 768 Gtg/Atg 0 -COL23A1 UCSF GRCh37 5 177684567 177684567 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 7 107 0 ENST00000390654.3:c.731G>A p.Gly244Asp p.G244D ENST00000390654 NM_173465.3 244 gGc/gAc 0 -COL24A1 UCSF GRCh37 1 86591741 86591741 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 22 287 0 ENST00000370571.2:c.278C>T p.Pro93Leu p.P93L ENST00000370571 NM_152890.5 93 cCt/cTt 0 -COL27A1 UCSF GRCh37 9 117068906 117068906 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 29 191 0 ENST00000356083.3:c.5045C>T p.Thr1682Ile p.T1682I ENST00000356083 NM_032888.2 1682 aCc/aTc 0 -COL28A1 UCSF GRCh37 7 7483230 7483230 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 182 21 192 0 ENST00000399429.3:c.1636C>T p.Gln546Ter p.Q546* ENST00000399429 NM_001037763.2 546 Cag/Tag 0 -COL2A1 UCSF GRCh37 12 48375911 48375911 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.00399,snp132_rs35504014 P24_Rec2 Untested WXS Illumina HiSeq 108 15 134 0 ENST00000380518.3:c.2334C>T p.Ala778= p.A778= ENST00000380518 NM_033150.2 778 gcC/gcT 0 -COL2A1 UCSF GRCh37 12 48380671 48380671 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 24 193 0 ENST00000380518.3:c.1366G>A p.Gly456Ser p.G456S ENST00000380518 NM_033150.2 456 Ggt/Agt 0 -COL3A1 UCSF GRCh37 2 189868993 189868993 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 24 98 0 ENST00000304636.3:c.2834G>A p.Gly945Asp p.G945D ENST00000304636 NM_000090.3 945 gGc/gAc 0 -COL3A1 UCSF GRCh37 2 189868138 189868138 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 11 53 0 ENST00000304636.3:c.2555G>A p.Gly852Asp p.G852D ENST00000304636 NM_000090.3 852 gGt/gAt 0 -COL4A3BP UCSF GRCh37 5 74676916 74676916 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 22 245 0 ENST00000380494.5:c.2112G>A p.Lys704= p.K704= ENST00000380494 NM_001130105.1 704 aaG/aaA 0 -COL5A3 UCSF GRCh37 19 10089569 10089569 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 5 30 0 ENST00000264828.3:c.2962C>T p.Pro988Ser p.P988S ENST00000264828 NM_015719.3 988 Ccg/Tcg 0 -COL5A3 UCSF GRCh37 19 10089303 10089303 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 12 68 0 ENST00000264828.3:c.2965G>A p.Gly989Arg p.G989R ENST00000264828 NM_015719.3 989 Gga/Aga 0 -COL6A2 UCSF GRCh37 21 47546141 47546141 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 13 87 0 ENST00000300527.4:c.2412C>T p.Val804= p.V804= ENST00000300527 NM_001849.3 804 gtC/gtT 0 -COL6A3 UCSF GRCh37 2 238280963 238280963 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 17 156 0 ENST00000295550.4:c.3697G>A p.Asp1233Asn p.D1233N ENST00000295550 NM_004369.3 1233 Gac/Aac 0 -COL6A3 UCSF GRCh37 2 238242168 238242168 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 12 97 0 ENST00000295550.4:c.9253C>T p.Gln3085Ter p.Q3085* ENST00000295550 NM_004369.3 3085 Cag/Tag 0 -COL7A1 UCSF GRCh37 3 48612894 48612894 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 12 148 0 ENST00000328333.8:c.6058G>A p.Ala2020Thr p.A2020T ENST00000328333 NM_000094.3 2020 Gcc/Acc 0 -COL7A1 UCSF GRCh37 3 48618560 48618560 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 215 102 281 0 ENST00000328333.8:c.4930C>T p.Pro1644Ser p.P1644S ENST00000328333 NM_000094.3 1644 Cct/Tct 0 -COL7A1 UCSF GRCh37 3 48627934 48627934 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 306 56 477 1 ENST00000328333.8:c.1864C>T p.Pro622Ser p.P622S ENST00000328333 NM_000094.3 622 Cct/Tct 0 -COL7A1 UCSF GRCh37 3 48612931 48612931 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 17 134 0 ENST00000328333.8:c.6021C>T p.Asp2007= p.D2007= ENST00000328333 NM_000094.3 2007 gaC/gaT 0 -COL9A2 UCSF GRCh37 1 40776907 40776907 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 18 157 0 ENST00000372748.3:c.571G>A p.Val191Met p.V191M ENST00000372748 NM_001852.3 191 Gtg/Atg 0 -COLEC11 UCSF GRCh37 2 3691697 3691697 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 20 212 0 ENST00000418971.2:c.847G>A p.Glu283Lys p.E283K ENST00000418971 NM_001255985.1 283 Gag/Aag 0 -COMP UCSF GRCh37 19 18895739 18895739 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 9 65 0 ENST00000222271.2:c.1881C>T p.Phe627= p.F627= ENST00000222271 NM_000095.2 627 ttC/ttT 0 -COPS5 UCSF GRCh37 8 67971558 67971558 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 446 77 707 0 ENST00000357849.4:c.266C>T p.Thr89Ile p.T89I ENST00000357849 NM_006837.2 89 aCc/aTc 0 -COPS6 UCSF GRCh37 7 99687306 99687306 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 21 203 0 ENST00000303904.3:c.271T>C p.Ser91Pro p.S91P ENST00000303904 NM_006833.4 91 Tcc/Ccc 0 -COX11 UCSF GRCh37 17 53040774 53040774 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 193 39 348 0 ENST00000299335.3:c.541G>A p.Ala181Thr p.A181T ENST00000299335 NM_004375.3 181 Gca/Aca 0 -CPA4 UCSF GRCh37 7 129950789 129950789 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 6 39 0 ENST00000222482.4:c.956G>A p.Gly319Glu p.G319E ENST00000222482 NM_016352.3 319 gGg/gAg 0 -CPAMD8 UCSF GRCh37 19 17088233 17088233 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 15 50 0 ENST00000443236.1:c.1844G>A p.Gly615Glu p.G615E ENST00000443236 NM_015692.2 615 gGa/gAa 0 -CPN1 UCSF GRCh37 10 101825120 101825120 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 4 95 0 ENST00000370418.3:c.584C>T p.Pro195Leu p.P195L ENST00000370418 NM_001308.2 195 cCc/cTc 0 -CPNE2 UCSF GRCh37 16 57144746 57144746 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 5 115 0 ENST00000535318.2:c.92G>A p.Ser31Asn p.S31N ENST00000535318 31 aGt/aAt 0 -CPNE2 UCSF GRCh37 16 57149387 57149387 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 10 168 0 ENST00000535318.2:c.361-1G>A p.X121_splice ENST00000535318 0 -CPNE3 UCSF GRCh37 8 87540889 87540889 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 6 57 0 ENST00000521271.1:c.116G>A p.Gly39Asp p.G39D ENST00000521271 NM_003909.3 39 gGt/gAt 0 -CPNE6 UCSF GRCh37 14 24542228 24542228 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 9 55 1 ENST00000397016.2:c.83G>A p.Cys28Tyr p.C28Y ENST00000397016 NM_001280558.1 28 tGc/tAc 0 -CPNE7 UCSF GRCh37 16 89642466 89642466 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 10 56 0 ENST00000268720.5:c.161G>A p.Gly54Asp p.G54D ENST00000268720 NM_014427.4 54 gGc/gAc 0 -CPS1 UCSF GRCh37 2 211512707 211512707 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 6 63 0 ENST00000430249.2:c.3280G>A p.Asp1094Asn p.D1094N ENST00000430249 NM_001122633.2 1094 Gat/Aat 0 -CPSF1 UCSF GRCh37 8 145626860 145626860 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 30 271 0 ENST00000349769.3:c.270G>A p.Lys90= p.K90= ENST00000349769 NM_013291.2 90 aaG/aaA 0 -CPT1C UCSF GRCh37 19 50195544 50195544 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 29 94 0 ENST00000392518.4:c.35C>G p.Pro12Arg p.P12R ENST00000392518 NM_001199752.1 12 cCc/cGc 0 -CPXCR1 UCSF GRCh37 X 88009037 88009037 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 26 181 0 ENST00000276127.4:c.622C>T p.Leu208Phe p.L208F ENST00000276127 NM_033048.5 208 Ctc/Ttc 0 -CR2 UCSF GRCh37 1 207648192 207648192 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 4 58 0 ENST00000367057.3:c.2347G>A p.Val783Met p.V783M ENST00000367057 NM_001006658.2 783 Gtg/Atg 0 -CRAT UCSF GRCh37 9 131858276 131858276 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 16 142 0 ENST00000318080.2:c.1665+1G>A p.X555_splice ENST00000318080 NM_001257363.1 0 -CRB2 UCSF GRCh37 9 126135458 126135458 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 4 37 0 ENST00000373631.3:c.2648G>A p.Ser883Asn p.S883N ENST00000373631 NM_173689.5 883 aGc/aAc 0 -CREBBP UCSF GRCh37 16 3779736 3779736 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 23 219 0 ENST00000262367.5:c.5312G>A p.Ser1771Asn p.S1771N ENST00000262367 NM_004380.2 1771 aGc/aAc 0 -CRIM1 UCSF GRCh37 2 36775817 36775817 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 381 54 533 0 ENST00000280527.2:c.3084G>A p.Gln1028= p.Q1028= ENST00000280527 NM_016441.2 1028 caG/caA 0 -CRIPT UCSF GRCh37 2 46851351 46851351 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 23 279 0 ENST00000238892.3:c.291G>A p.Lys97= p.K97= ENST00000238892 NM_014171.4 97 aaG/aaA 0 -CRTC1 UCSF GRCh37 19 18870884 18870884 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 10 77 0 ENST00000338797.6:c.780G>A p.Gly260= p.G260= ENST00000338797 NM_001098482.1 260 ggG/ggA 0 -CRTC2 UCSF GRCh37 1 153921856 153921856 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 17 61 0 ENST00000368633.1:c.1409T>C p.Val470Ala p.V470A ENST00000368633 NM_181715.2 470 gTc/gCc 0 -CRTC3 UCSF GRCh37 15 91150639 91150639 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 226 38 287 0 ENST00000268184.6:c.506G>A p.Ser169Asn p.S169N ENST00000268184 169 aGt/aAt 0 -CRYZ UCSF GRCh37 1 75190394 75190394 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 9 91 0 ENST00000417775.1:c.111+1G>A p.X37_splice ENST00000417775 NM_001130042.1 0 -CSF1 UCSF GRCh37 1 110466112 110466112 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 196 31 272 0 ENST00000329608.6:c.869G>A p.Gly290Glu p.G290E ENST00000329608 NM_000757.5 290 gGg/gAg 0 -CSF2RB UCSF GRCh37 22 37325470 37325470 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 15 37 0 ENST00000403662.3:c.418C>T p.Gln140Ter p.Q140* ENST00000403662 140 Cag/Tag 0 -CSMD1 UCSF GRCh37 8 2836219 2836219 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 222 29 176 0 ENST00000537824.1:c.8481C>T p.Cys2827= p.C2827= ENST00000537824 NM_033225.5 2827 tgC/tgT 0 -CSPP1 UCSF GRCh37 8 68049803 68049803 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 12 121 0 ENST00000262210.5:c.1925G>A p.Gly642Asp p.G642D ENST00000262210 NM_024790.6 642 gGt/gAt 0 -CSRNP2 UCSF GRCh37 12 51457544 51457544 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 16 95 0 ENST00000228515.1:c.1617C>T p.Leu539= p.L539= ENST00000228515 NM_030809.2 539 ctC/ctT 0 -CTNNA2 UCSF GRCh37 2 79878746 79878746 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 12 165 0 ENST00000466387.1:c.64C>T p.Leu22= p.L22= ENST00000466387 22 Cta/Tta 0 -CTR9 UCSF GRCh37 11 10777265 10777265 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 12 64 0 ENST00000361367.2:c.425G>A p.Gly142Asp p.G142D ENST00000361367 NM_014633.3 142 gGt/gAt 0 -CTSL1 UCSF GRCh37 9 90343719 90343719 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 335 194 674 0 ENST00000343150.5:c.616G>A p.Ala206Thr p.A206T ENST00000343150 206 Gca/Aca 0 -CTSO UCSF GRCh37 4 156864339 156864339 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 8 192 0 ENST00000433477.3:c.213G>A p.Gln71= p.Q71= ENST00000433477 NM_001334.2 71 caG/caA 0 -CTTNBP2 UCSF GRCh37 7 117451031 117451031 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 12 101 0 ENST00000160373.3:c.202G>A p.Glu68Lys p.E68K ENST00000160373 NM_033427.2 68 Gag/Aag 0 -CTTNBP2NL UCSF GRCh37 1 112991673 112991673 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 26 134 0 ENST00000271277.6:c.209G>A p.Gly70Asp p.G70D ENST00000271277 NM_018704.2 70 gGc/gAc 0 -CUL4B UCSF GRCh37 X 119680994 119680994 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 4 35 0 ENST00000404115.3:c.827G>A p.Arg276Lys p.R276K ENST00000404115 NM_003588.3 276 aGa/aAa 0 -CUL9 UCSF GRCh37 6 43184060 43184060 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 183 22 250 0 ENST00000252050.4:c.6101G>A p.Gly2034Asp p.G2034D ENST00000252050 NM_015089.2 2034 gGc/gAc 0 -CUX1 UCSF GRCh37 7 101460925 101460925 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 7 55 0 ENST00000360264.3:c.63+1552G>A *21* ENST00000360264 NM_001202543.1 0 -CWC27 UCSF GRCh37 5 64077783 64077783 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 17 110 0 ENST00000381070.3:c.175C>T p.Pro59Ser p.P59S ENST00000381070 NM_005869.2 59 Cct/Tct 0 -CXCL11 UCSF GRCh37 4 76956392 76956392 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 26 207 0 ENST00000306621.3:c.165C>T p.Asn55= p.N55= ENST00000306621 NM_005409.4 55 aaC/aaT 0 -CXCL2 UCSF GRCh37 4 74964383 74964383 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 18 180 0 ENST00000508487.2:c.243G>A p.Gly81= p.G81= ENST00000508487 NM_002089.3 81 ggG/ggA 0 -CXCL3 UCSF GRCh37 4 74902982 74902982 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 24 174 0 ENST00000296026.4:c.321C>T p.Asn107= p.N107= ENST00000296026 NM_002090.2 107 aaC/aaT 0 -CXorf26 UCSF GRCh37 X 75394773 75394773 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 31 120 0 ENST00000373358.3:c.145G>A p.Val49Ile p.V49I ENST00000373358 NM_016500.3 49 Gtc/Atc 0 -CXorf59 UCSF GRCh37 X 36103639 36103639 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 21 114 0 ENST00000313548.4:c.625C>T p.Leu209Phe p.L209F ENST00000313548 NM_173695.2 209 Ctt/Ttt 0 -CXXC1 UCSF GRCh37 18 47811482 47811482 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 279 57 395 0 ENST00000412036.2:c.802G>A p.Glu268Lys p.E268K ENST00000412036 268 Gag/Aag 0 -CYB561 UCSF GRCh37 17 61514898 61514898 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 4 51 0 ENST00000392976.1:c.11G>A p.Gly4Glu p.G4E ENST00000392976 NM_001017916.1 4 gGg/gAg 0 -CYB5D1 UCSF GRCh37 17 7761524 7761524 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 5 40 0 ENST00000332439.4:c.72G>A p.Glu24= p.E24= ENST00000332439 NM_144607.4 24 gaG/gaA 0 -CYB5R1 UCSF GRCh37 1 202931713 202931713 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 18 119 0 ENST00000367249.4:c.860C>T p.Ala287Val p.A287V ENST00000367249 NM_016243.2 287 gCc/gTc 0 -CYB5R4 UCSF GRCh37 6 84574011 84574011 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 6 84 0 ENST00000369681.5:c.193C>T p.His65Tyr p.H65Y ENST00000369681 NM_016230.3 65 Cac/Tac 0 -CYFIP1 UCSF GRCh37 15 22993035 22993035 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 3 33 0 ENST00000313077.7:c.2922G>A p.Glu974= p.E974= ENST00000313077 NM_014608.2 974 gaG/gaA 0 -CYLD UCSF GRCh37 16 50810181 50810181 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 4 61 0 ENST00000398568.2:c.1005G>A p.Lys335= p.K335= ENST00000398568 NM_001042412.1 335 aaG/aaA 0 -CYP24A1 UCSF GRCh37 20 52789884 52789884 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 310 37 403 0 ENST00000216862.3:c.235C>T p.Leu79Phe p.L79F ENST00000216862 NM_000782.4 79 Ctc/Ttc 0 -CYP3A7 UCSF GRCh37 7 99306796 99306796 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 194 47 338 0 ENST00000336374.2:c.1115G>A p.Arg372Lys p.R372K ENST00000336374 NM_000765.3 372 aGa/aAa 0 -CYP46A1 UCSF GRCh37 14 100187631 100187631 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 11 109 0 ENST00000261835.3:c.1036G>A p.Asp346Asn p.D346N ENST00000261835 NM_006668.1 346 Gac/Aac 0 -CYP4F11 UCSF GRCh37 19 16045165 16045165 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 13 52 0 ENST00000402119.4:c.54G>A p.Pro18= p.P18= ENST00000402119 NM_021187.3 18 ccG/ccA 0 -CYP4F2 UCSF GRCh37 19 15989703 15989703 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 11 5 17 0 ENST00000221700.6:c.1441G>A p.Val481Ile p.V481I ENST00000221700 NM_001082.3 481 Gtc/Atc 0 -CYTH1 UCSF GRCh37 17 76697834 76697834 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 30 95 0 ENST00000361101.4:c.357-1G>A p.X119_splice ENST00000361101 NM_017456.2 0 -CYTIP UCSF GRCh37 2 158290915 158290915 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 95 427 0 ENST00000264192.3:c.246G>A p.Lys82= p.K82= ENST00000264192 NM_004288.4 82 aaG/aaA 0 -DAAM2 UCSF GRCh37 6 39846317 39846317 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 11 103 0 ENST00000398904.2:c.1498G>A p.Ala500Thr p.A500T ENST00000398904 500 Gct/Act 0 -DACT2 UCSF GRCh37 6 168709332 168709332 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 332 38 437 1 ENST00000366795.3:c.1105G>A p.Gly369Ser p.G369S ENST00000366795 NM_214462.3 369 Ggt/Agt 0 -DAGLA UCSF GRCh37 11 61502445 61502445 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 33 214 0 ENST00000257215.5:c.1099G>A p.Asp367Asn p.D367N ENST00000257215 NM_006133.2 367 Gac/Aac 0 -DAGLA UCSF GRCh37 11 61511131 61511131 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 4 59 0 ENST00000257215.5:c.2299G>A p.Ala767Thr p.A767T ENST00000257215 NM_006133.2 767 Gcg/Acg 0 -DAK UCSF GRCh37 11 61113195 61113195 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 189 32 299 0 ENST00000394900.3:c.1463C>T p.Ala488Val p.A488V ENST00000394900 NM_015533.3 488 gCt/gTt 0 -DAK UCSF GRCh37 11 61108958 61108958 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 24 196 0 ENST00000394900.3:c.537G>A p.Lys179= p.K179= ENST00000394900 NM_015533.3 179 aaG/aaA 0 -DAOA UCSF GRCh37 13 106125018 106125018 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 3 47 0 ENST00000375936.3:c.265C>T p.Pro89Ser p.P89S ENST00000375936 NM_001161812.1 89 Cct/Tct 0 -DAP3 UCSF GRCh37 1 155695795 155695795 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 13 150 0 ENST00000368336.5:c.457C>T p.Leu153= p.L153= ENST00000368336 NM_004632.3 153 Cta/Tta 0 -DARS2 UCSF GRCh37 1 173825858 173825858 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 21 216 0 ENST00000361951.4:c.1729C>T p.Pro577Ser p.P577S ENST00000361951 NM_018122.4 577 Cct/Tct 0 -DAXX UCSF GRCh37 6 33286520 33286520 + stop_retained_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 16 82 0 ENST00000374542.5:c.2223G>A p.Ter741= p.*741= ENST00000374542 NM_001141970.1 741 taG/taA 0 -DBC1 UCSF GRCh37 9 121929590 121929590 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 31 279 0 ENST00000265922.3:c.2058C>T p.Phe686= p.F686= ENST00000265922 NM_014618.2 686 ttC/ttT 0 -DBR1 UCSF GRCh37 3 137881420 137881420 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 9 82 0 ENST00000260803.4:c.946G>A p.Asp316Asn p.D316N ENST00000260803 NM_016216.3 316 Gat/Aat 0 -DBR1 UCSF GRCh37 3 137885932 137885932 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 8 70 0 ENST00000260803.4:c.705G>A p.Met235Ile p.M235I ENST00000260803 NM_016216.3 235 atG/atA 0 -DCAF6 UCSF GRCh37 1 167921037 167921037 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 13 149 0 ENST00000367840.3:c.98-1G>A p.X33_splice ENST00000367840 NM_001198956.1 0 -DCHS1 UCSF GRCh37 11 6645226 6645226 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 210 30 302 0 ENST00000299441.3:c.7681G>A p.Asp2561Asn p.D2561N ENST00000299441 NM_003737.2 2561 Gac/Aac 0 -DCLK2 UCSF GRCh37 4 151145687 151145687 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 16 148 0 ENST00000302176.8:c.1327G>A p.Asp443Asn p.D443N ENST00000302176 NM_001040261.4 443 Gac/Aac 0 -DCLK3 UCSF GRCh37 3 36779519 36779519 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 127 467 0 ENST00000416516.2:c.632C>T p.Thr211Ile p.T211I ENST00000416516 NM_033403.1 211 aCt/aTt 0 -DCLRE1A UCSF GRCh37 10 115603981 115603981 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 12 113 0 ENST00000361384.2:c.2401C>T p.Leu801Phe p.L801F ENST00000361384 NM_014881.4 801 Ctc/Ttc 0 -DCST1 UCSF GRCh37 1 155019721 155019721 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 30 235 0 ENST00000295542.1:c.1545G>A p.Arg515= p.R515= ENST00000295542 NM_152494.3 515 cgG/cgA 0 -DCST2 UCSF GRCh37 1 155002654 155002654 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 12 117 0 ENST00000368424.3:c.1083C>T p.Ser361= p.S361= ENST00000368424 NM_144622.2 361 agC/agT 0 -DCT UCSF GRCh37 13 95114294 95114294 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 26 194 0 ENST00000446125.1:c.1013C>T p.Pro338Leu p.P338L ENST00000446125 NM_001129889.1 338 cCc/cTc 0 -DCTN2 UCSF GRCh37 12 57927880 57927880 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 685 80 117 0 ENST00000434715.3:c.540G>A p.Lys180= p.K180= ENST00000434715 NM_006400.4 180 aaG/aaA 0 -DDIT4 UCSF GRCh37 10 74034840 74034840 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 138 42 330 0 ENST00000307365.3:c.593C>T p.Ser198Phe p.S198F ENST00000307365 NM_019058.2 198 tCt/tTt 0 -DDOST UCSF GRCh37 1 20982629 20982629 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 12 50 0 ENST00000375048.3:c.368G>A p.Gly123Glu p.G123E ENST00000375048 NM_005216.4 123 gGa/gAa 0 -DDX18 UCSF GRCh37 2 118575155 118575155 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 10 49 0 ENST00000263239.2:c.221C>T p.Ser74Phe p.S74F ENST00000263239 NM_006773.3 74 tCt/tTt 0 -DDX39B UCSF GRCh37 6 31498696 31498696 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 20 135 0 ENST00000396172.1:c.1130G>A p.Arg377Lys p.R377K ENST00000396172 NM_004640.6 377 aGa/aAa 0 -DDX39B UCSF GRCh37 6 31504281 31504281 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 460 58 687 0 ENST00000396172.1:c.612G>A p.Gln204= p.Q204= ENST00000396172 NM_004640.6 204 caG/caA 0 -DDX54 UCSF GRCh37 12 113602091 113602091 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 15 124 0 ENST00000314045.7:c.1720-1G>A p.X574_splice ENST00000314045 NM_001111322.1 0 -DDX60L UCSF GRCh37 4 169294816 169294816 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 62 491 0 ENST00000260184.7:c.4776+1G>A p.X1592_splice ENST00000260184 NM_001012967.1 0 -DECR2 UCSF GRCh37 16 461398 461398 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 24 146 0 ENST00000219481.5:c.699C>T p.Ala233= p.A233= ENST00000219481 NM_020664.3 233 gcC/gcT 0 -DEFA5 UCSF GRCh37 8 6914189 6914189 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 3 32 0 ENST00000330590.2:c.31C>T p.Leu11Phe p.L11F ENST00000330590 NM_021010.1 11 Ctc/Ttc 0 -DEGS1 UCSF GRCh37 1 224377858 224377858 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 258 53 384 0 ENST00000323699.4:c.662G>A p.Gly221Asp p.G221D ENST00000323699 NM_003676.3 221 gGt/gAt 0 -DENND1A UCSF GRCh37 9 126144555 126144555 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 19 151 0 ENST00000373624.2:c.2186C>T p.Ala729Val p.A729V ENST00000373624 NM_020946.1 729 gCc/gTc 0 -DENND2A UCSF GRCh37 7 140301242 140301242 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 13 103 0 ENST00000275884.6:c.956G>A p.Arg319Lys p.R319K ENST00000275884 319 aGa/aAa 0 -DENND4A UCSF GRCh37 15 65994642 65994642 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 5 61 0 ENST00000443035.3:c.2430+1G>A p.X810_splice ENST00000443035 NM_001144823.1 0 -DENND5B UCSF GRCh37 12 31555512 31555512 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 18 168 0 ENST00000389082.5:c.2869C>T p.Pro957Ser p.P957S ENST00000389082 NM_144973.3 957 Cct/Tct 0 -DENND5B UCSF GRCh37 12 31552652 31552652 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 14 126 0 ENST00000389082.5:c.3004C>T p.Leu1002= p.L1002= ENST00000389082 NM_144973.3 1002 Ctg/Ttg 0 -DEPDC7 UCSF GRCh37 11 33054986 33054986 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 243 47 377 0 ENST00000241051.3:c.1521G>A p.Glu507= p.E507= ENST00000241051 NM_001077242.1 507 gaG/gaA 0 -DES UCSF GRCh37 2 220286117 220286117 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 47 154 0 ENST00000373960.3:c.1079C>T p.Ala360Val p.A360V ENST00000373960 NM_001927.3 360 gCc/gTc 0 -DFFB UCSF GRCh37 1 3775390 3775390 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 25 139 0 ENST00000378209.3:c.223G>A p.Gly75Ser p.G75S ENST00000378209 NM_004402.2 75 Ggc/Agc 0 -DHRS4L1 UCSF GRCh37 14 24505775 24505775 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 62 195 0 ENST00000606840.1:n.66C>T *22* ENST00000606840 0 -DHTKD1 UCSF GRCh37 10 12160815 12160815 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 211 40 159 0 ENST00000263035.4:c.2470G>A p.Gly824Arg p.G824R ENST00000263035 NM_018706.6 824 Ggg/Agg 0 -DHX15 UCSF GRCh37 4 24529649 24529649 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 18 165 0 ENST00000336812.4:c.2286C>T p.Ala762= p.A762= ENST00000336812 NM_001358.2 762 gcC/gcT 0 -DHX33 UCSF GRCh37 17 5358557 5358557 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 17 194 0 ENST00000225296.3:c.1070C>T p.Ala357Val p.A357V ENST00000225296 NM_001199699.1 357 gCt/gTt 0 -DHX58 UCSF GRCh37 17 40253810 40253810 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 10 100 0 ENST00000251642.3:c.2006C>T p.Ala669Val p.A669V ENST00000251642 NM_024119.2 669 gCc/gTc 0 -DIDO1 UCSF GRCh37 20 61542417 61542417 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 219 36 321 0 ENST00000266070.4:c.548G>A p.Gly183Glu p.G183E ENST00000266070 NM_033081.2 183 gGg/gAg 0 -DIEXF UCSF GRCh37 1 210010214 210010214 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 219 112 464 0 ENST00000491415.2:c.720G>A p.Lys240= p.K240= ENST00000491415 NM_014388.6 240 aaG/aaA 0 -DIP2B UCSF GRCh37 12 51097957 51097957 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 16 96 0 ENST00000301180.5:c.2360G>A p.Gly787Glu p.G787E ENST00000301180 NM_173602.2 787 gGg/gAg 0 -DIP2C UCSF GRCh37 10 329328 329328 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 8 59 0 ENST00000280886.6:c.4178C>T p.Ser1393Phe p.S1393F ENST00000280886 NM_014974.2 1393 tCc/tTc 0 -DIRAS1 UCSF GRCh37 19 2717666 2717666 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 196 22 154 0 ENST00000323469.4:c.139G>A p.Val47Met p.V47M ENST00000323469 NM_145173.3 47 Gtg/Atg 0 -DIS3L UCSF GRCh37 15 66587480 66587480 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 13 130 0 ENST00000319212.4:c.293+1G>A p.X98_splice ENST00000319212 NM_001143688.1 0 -DLAT UCSF GRCh37 11 111896382 111896382 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 17 110 0 ENST00000280346.6:c.186C>T p.Thr62= p.T62= ENST00000280346 NM_001931.4 62 acC/acT 0 -DLC1 UCSF GRCh37 8 12957533 12957533 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 299 36 333 0 ENST00000276297.4:c.2313G>A p.Arg771= p.R771= ENST00000276297 NM_182643.2 771 cgG/cgA 0 -DMAP1 UCSF GRCh37 1 44684349 44684349 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 240 41 358 0 ENST00000372289.2:c.642G>A p.Lys214= p.K214= ENST00000372289 NM_019100.4 214 aaG/aaA 0 -DMPK UCSF GRCh37 19 46281768 46281768 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 14 115 0 ENST00000343373.4:c.594G>A p.Arg198= p.R198= ENST00000343373 NM_001081563.1 198 cgG/cgA 0 -DMRTA2 UCSF GRCh37 1 50886967 50886967 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 24 220 0 ENST00000404795.3:c.242C>T p.Ala81Val p.A81V ENST00000404795 NM_032110.2 81 gCc/gTc 0 -DMTF1 UCSF GRCh37 7 86822635 86822635 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 21 174 0 ENST00000394703.5:c.1616C>T p.Ala539Val p.A539V ENST00000394703 NM_021145.3 539 gCt/gTt 0 -DMXL1 UCSF GRCh37 5 118407301 118407301 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 145 20 161 0 ENST00000311085.8:c.37C>T p.Pro13Ser p.P13S ENST00000311085 NM_005509.4 13 Cct/Tct 0 -DNAH1 UCSF GRCh37 3 52386630 52386630 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 8 51 0 ENST00000420323.2:c.2934G>A p.Glu978= p.E978= ENST00000420323 NM_015512.4 978 gaG/gaA 0 -DNAH1 UCSF GRCh37 3 52398656 52398656 + splice_region_variant,synonymous_variant Splice_Region SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 48 140 1 ENST00000420323.2:c.5247T>C p.Asp1749= p.D1749= ENST00000420323 NM_015512.4 1749 gaT/gaC 0 -DNAH10 UCSF GRCh37 12 124413843 124413843 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 474 74 603 0 ENST00000409039.3:c.11974G>A p.Gly3992Arg p.G3992R ENST00000409039 NM_207437.3 3992 Ggg/Agg 0 -DNAH10 UCSF GRCh37 12 124311386 124311386 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 4 50 0 ENST00000409039.3:c.3978G>A p.Lys1326= p.K1326= ENST00000409039 NM_207437.3 1326 aaG/aaA 0 -DNAH2 UCSF GRCh37 17 7636501 7636501 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 604 100 719 0 ENST00000572933.1:c.496C>T p.Pro166Ser p.P166S ENST00000572933 166 Ccc/Tcc 0 -DNAH2 UCSF GRCh37 17 7696469 7696469 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 274 48 460 0 ENST00000572933.1:c.7515G>A p.Trp2505Ter p.W2505* ENST00000572933 2505 tgG/tgA 0 -DNAH2 UCSF GRCh37 17 7663129 7663129 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 552 79 775 0 ENST00000572933.1:c.2658G>A p.Leu886= p.L886= ENST00000572933 886 ctG/ctA 0 -DNAH6 UCSF GRCh37 2 84774620 84774620 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 155 21 254 0 ENST00000389394.3:c.1070C>T p.Thr357Ile p.T357I ENST00000389394 NM_001370.1 357 aCa/aTa 0 -DNAH8 UCSF GRCh37 6 38840477 38840477 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 26 247 0 ENST00000359357.3:c.6505G>A p.Gly2169Ser p.G2169S ENST00000359357 2169 Ggc/Agc 0 -DNAH8 UCSF GRCh37 6 38690630 38690630 + upstream_gene_variant 5'Flank SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 6 43 0 ENST00000359357 0 -DNAJB1 UCSF GRCh37 19 14627575 14627575 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 16 113 0 ENST00000254322.2:c.495C>T p.Thr165= p.T165= ENST00000254322 NM_006145.1 165 acC/acT 0 -DNAJB7 UCSF GRCh37 22 41257988 41257988 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 19 183 0 ENST00000307221.4:c.11A>G p.Tyr4Cys p.Y4C ENST00000307221 NM_145174.1 4 tAc/tGc 0 -DNAJC2 UCSF GRCh37 7 102957322 102957322 + stop_gained Nonsense_Mutation SNP A A C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 39 133 0 ENST00000379263.3:c.1382T>G p.Leu461Ter p.L461* ENST00000379263 NM_014377.1 461 tTa/tGa 0 -DNAJC6 UCSF GRCh37 1 65855296 65855296 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 12 126 0 ENST00000371069.4:c.1454C>T p.Ser485Phe p.S485F ENST00000371069 NM_001256864.1 485 tCt/tTt 0 -DNASE1 UCSF GRCh37 16 3707321 3707321 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 8 47 0 ENST00000246949.5:c.683C>T p.Pro228Leu p.P228L ENST00000246949 NM_005223.3 228 cCc/cTc 0 -DNHD1 UCSF GRCh37 11 6540976 6540976 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 59 163 0 ENST00000254579.6:c.1539G>A p.Trp513Ter p.W513* ENST00000254579 NM_144666.2 513 tgG/tgA 0 -DNM2 UCSF GRCh37 19 10934513 10934513 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 301 35 308 0 ENST00000389253.4:c.1831G>A p.Glu611Lys p.E611K ENST00000389253 NM_001005361.2 611 Gaa/Aaa 0 -DOCK11 UCSF GRCh37 X 117707891 117707891 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 16 92 0 ENST00000276202.7:c.1299C>T p.Thr433= p.T433= ENST00000276202 NM_144658.3 433 acC/acT 0 -DOCK3 UCSF GRCh37 3 51112786 51112786 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 11 103 0 ENST00000266037.9:c.465-1G>A p.X155_splice ENST00000266037 NM_004947.4 0 -DOCK5 UCSF GRCh37 8 25168013 25168013 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 198 24 213 0 ENST00000276440.7:c.1283C>T p.Ala428Val p.A428V ENST00000276440 NM_024940.6 428 gCc/gTc 0 -DOK2 UCSF GRCh37 8 21767047 21767047 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 49 172 0 ENST00000276420.4:c.1014C>T p.Pro338= p.P338= ENST00000276420 NM_003974.2 338 ccC/ccT 0 -DOLPP1 UCSF GRCh37 9 131847825 131847825 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 32 94 0 ENST00000372546.4:c.391C>T p.Leu131= p.L131= ENST00000372546 NM_020438.4 131 Ctg/Ttg 0 -DPEP3 UCSF GRCh37 16 68012174 68012174 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 10 119 0 ENST00000268793.4:c.757C>T p.Pro253Ser p.P253S ENST00000268793 NM_022357.3 253 Cca/Tca 0 -DPF2 UCSF GRCh37 11 65113252 65113252 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 12 110 0 ENST00000528416.1:c.753C>T p.Ser251= p.S251= ENST00000528416 NM_006268.4 251 tcC/tcT 0 -DPP8 UCSF GRCh37 15 65777486 65777486 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 18 234 0 ENST00000341861.5:c.1016C>T p.Pro339Leu p.P339L ENST00000341861 NM_197960.2 339 cCt/cTt 0 -DPP9 UCSF GRCh37 19 4704019 4704019 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 11 99 0 ENST00000262960.9:c.648C>T p.Pro216= p.P216= ENST00000262960 NM_139159.4 216 ccC/ccT 0 -DRD1 UCSF GRCh37 5 174869973 174869973 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 12 156 0 ENST00000393752.2:c.130G>A p.Val44Ile p.V44I ENST00000393752 NM_000794.3 44 Gtc/Atc 0 -DROSHA UCSF GRCh37 5 31435970 31435970 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 19 67 0 ENST00000344624.3:c.2944G>A p.Val982Ile p.V982I ENST00000344624 982 Gtc/Atc 0 -DSCAM UCSF GRCh37 21 41496237 41496237 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 7 60 0 ENST00000400454.1:c.3581G>A p.Gly1194Asp p.G1194D ENST00000400454 NM_001271534.1 1194 gGt/gAt 0 -DSCAM UCSF GRCh37 21 41711201 41711201 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 20 186 0 ENST00000400454.1:c.1352G>A p.Gly451Asp p.G451D ENST00000400454 NM_001271534.1 451 gGc/gAc 0 -DSCAM UCSF GRCh37 21 41710220 41710220 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 25 250 0 ENST00000400454.1:c.1591C>T p.Pro531Ser p.P531S ENST00000400454 NM_001271534.1 531 Ccg/Tcg 0 -DSCAM UCSF GRCh37 21 41725552 41725552 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 18 111 0 ENST00000400454.1:c.774G>A p.Trp258Ter p.W258* ENST00000400454 NM_001271534.1 258 tgG/tgA 0 -DSG2 UCSF GRCh37 18 29121189 29121189 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 17 87 0 ENST00000261590.8:c.1913G>A p.Gly638Glu p.G638E ENST00000261590 NM_001943.3 638 gGa/gAa 0 -DST UCSF GRCh37 6 56334743 56334743 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 34 277 0 ENST00000244364.6:c.14620G>A p.Val4874Ile p.V4874I ENST00000244364 NM_015548.4 4874 Gta/Ata 0 -DSTYK UCSF GRCh37 1 205126440 205126440 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 174 24 237 0 ENST00000367162.3:c.2313G>A p.Gln771= p.Q771= ENST00000367162 NM_015375.2 771 caG/caA 0 -DTX1 UCSF GRCh37 12 113515352 113515352 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 22 213 0 ENST00000257600.3:c.383C>T p.Thr128Ile p.T128I ENST00000257600 NM_004416.2 128 aCc/aTc 0 -DUOXA1 UCSF GRCh37 15 45410176 45410176 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 5 71 0 ENST00000267803.4:c.1083G>A p.Gln361= p.Q361= ENST00000267803 NM_144565.3 361 caG/caA 0 -DUS4L UCSF GRCh37 7 107211613 107211613 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 8 52 0 ENST00000265720.3:c.140G>A p.Arg47Lys p.R47K ENST00000265720 NM_001270419.1 47 aGa/aAa 0 -DUS4L UCSF GRCh37 7 107217867 107217867 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 59 236 0 ENST00000265720.3:c.816G>A p.Gly272= p.G272= ENST00000265720 NM_001270419.1 272 ggG/ggA 0 -DUSP13B UCSF GRCh37 10 76854607 76854607 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 4 47 0 ENST00000372700.3:c.574G>A p.Val192Ile p.V192I ENST00000372700 NM_001007272.1 192 Gta/Ata 0 -DUSP6 UCSF GRCh37 12 89745677 89745677 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 263 30 358 0 ENST00000279488.7:c.140C>T p.Ser47Leu p.S47L ENST00000279488 NM_001946.2 47 tCg/tTg 0 -DVL1 UCSF GRCh37 1 1275467 1275467 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 6 44 0 ENST00000378891.5:c.860G>A p.Gly287Glu p.G287E ENST00000378891 NM_004421.2 287 gGg/gAg 0 -DVL3 UCSF GRCh37 3 183888396 183888396 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 289 56 452 1 ENST00000313143.3:c.2004G>A p.Met668Ile p.M668I ENST00000313143 NM_004423.3 668 atG/atA 0 -DVL3 UCSF GRCh37 3 183882976 183882976 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 27 171 0 ENST00000313143.3:c.675G>A p.Lys225= p.K225= ENST00000313143 NM_004423.3 225 aaG/aaA 0 -DYNC1H1 UCSF GRCh37 14 102452456 102452456 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 234 34 322 0 ENST00000360184.4:c.1894G>A p.Ala632Thr p.A632T ENST00000360184 NM_001376.4 632 Gct/Act 0 -DYNC2H1 UCSF GRCh37 11 103005056 103005056 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 25 185 0 ENST00000398093.3:c.2113G>A p.Val705Ile p.V705I ENST00000398093 705 Gtt/Att 0 -DYNC2H1 UCSF GRCh37 11 103107235 103107235 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 13 157 0 ENST00000398093.3:c.9786C>T p.Asp3262= p.D3262= ENST00000398093 3262 gaC/gaT 0 -DYSF UCSF GRCh37 2 71795384 71795384 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 132 23 235 1 ENST00000410020.3:c.2780G>A p.Gly927Asp p.G927D ENST00000410020 NM_001130987.1 927 gGc/gAc 0 -DYSF UCSF GRCh37 2 71766326 71766326 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 257 40 386 0 ENST00000410020.3:c.1533C>T p.Tyr511= p.Y511= ENST00000410020 NM_001130987.1 511 taC/taT 0 -DYX1C1 UCSF GRCh37 15 55790479 55790479 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 74 232 0 ENST00000321149.3:c.49G>A p.Val17Ile p.V17I ENST00000321149 NM_130810.3 17 Gtc/Atc 0 -DYX1C1 UCSF GRCh37 15 55790464 55790464 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 145 24 218 0 ENST00000321149.3:c.64C>T p.Pro22Ser p.P22S ENST00000321149 NM_130810.3 22 Ccc/Tcc 0 -E2F2 UCSF GRCh37 1 23848374 23848374 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 24 176 0 ENST00000361729.2:c.533G>A p.Gly178Asp p.G178D ENST00000361729 NM_004091.3 178 gGc/gAc 0 -E2F3 UCSF GRCh37 6 20490487 20490487 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 155 28 262 0 ENST00000346618.3:c.1224G>A p.Gln408= p.Q408= ENST00000346618 NM_001949.4 408 caG/caA 0 -E2F7 UCSF GRCh37 12 77421803 77421803 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 160 29 268 0 ENST00000322886.7:c.2000G>A p.Gly667Glu p.G667E ENST00000322886 NM_203394.2 667 gGa/gAa 0 -E2F7 UCSF GRCh37 12 77423701 77423701 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 10 57 0 ENST00000322886.7:c.1794G>A p.Glu598= p.E598= ENST00000322886 NM_203394.2 598 gaG/gaA 0 -EARS2 UCSF GRCh37 16 23540917 23540917 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 10 114 0 ENST00000449606.1:c.1258G>A p.Val420Ile p.V420I ENST00000449606 NM_001083614.1 420 Gta/Ata 0 -EARS2 UCSF GRCh37 16 23563625 23563625 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 36 116 0 ENST00000449606.1:c.140G>A p.Gly47Asp p.G47D ENST00000449606 NM_001083614.1 47 gGc/gAc 0 -EBAG9 UCSF GRCh37 8 110573142 110573142 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 20 206 0 ENST00000337573.5:c.505G>A p.Ala169Thr p.A169T ENST00000337573 NM_004215.4 169 Gca/Aca 0 -ECM2 UCSF GRCh37 9 95277008 95277008 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 303 47 436 0 ENST00000344604.5:c.959G>A p.Cys320Tyr p.C320Y ENST00000344604 NM_001393.3 320 tGc/tAc 0 -EDC3 UCSF GRCh37 15 74925151 74925151 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 65 180 0 ENST00000315127.4:c.1329C>T p.Asp443= p.D443= ENST00000315127 NM_025083.3 443 gaC/gaT 0 -EEF2 UCSF GRCh37 19 3979880 3979880 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 7 52 0 ENST00000309311.6:c.1531G>A p.Ala511Thr p.A511T ENST00000309311 NM_001961.3 511 Gcc/Acc 0 -EEFSEC UCSF GRCh37 3 128060196 128060196 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 164 20 211 0 ENST00000254730.6:c.907G>A p.Val303Met p.V303M ENST00000254730 NM_021937.3 303 Gtg/Atg 0 -EFCAB5 UCSF GRCh37 17 28380852 28380852 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 338 47 486 0 ENST00000394835.3:c.1880G>A p.Gly627Glu p.G627E ENST00000394835 NM_198529.3 627 gGa/gAa 0 -EFEMP1 UCSF GRCh37 2 56094295 56094295 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 12 140 0 ENST00000394555.2:c.1395G>A p.Leu465= p.L465= ENST00000394555 NM_001039348.2 465 ctG/ctA 0 -EFNB1 UCSF GRCh37 X 68058563 68058563 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 7 72 0 ENST00000204961.4:c.232C>T p.Leu78= p.L78= ENST00000204961 NM_004429.4 78 Ctg/Ttg 0 -EFNB3 UCSF GRCh37 17 7608984 7608984 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 19 141 0 ENST00000226091.2:c.68G>A p.Gly23Glu p.G23E ENST00000226091 NM_001406.3 23 gGg/gAg 0 -EGF UCSF GRCh37 4 110884380 110884380 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 15 87 0 ENST00000265171.5:c.1364G>A p.Ser455Asn p.S455N ENST00000265171 NM_001963.4 455 aGc/aAc 0 -EGFL7 UCSF GRCh37 9 139564675 139564675 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 19 94 1 ENST00000308874.7:c.464C>T p.Thr155Ile p.T155I ENST00000308874 155 aCc/aTc 0 -EGR2 UCSF GRCh37 10 64574184 64574184 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 7 70 0 ENST00000242480.3:c.214G>A p.Asp72Asn p.D72N ENST00000242480 NM_001136177.1 72 Gat/Aat 0 -EHHADH UCSF GRCh37 3 184922287 184922287 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 20 116 0 ENST00000231887.3:c.827G>A p.Arg276Lys p.R276K ENST00000231887 NM_001166415.1 276 aGg/aAg 0 -EHHADH UCSF GRCh37 3 184922469 184922469 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 37 230 0 ENST00000231887.3:c.645G>A p.Glu215= p.E215= ENST00000231887 NM_001166415.1 215 gaG/gaA 0 -EHMT2 UCSF GRCh37 6 31860229 31860229 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 38 123 0 ENST00000375537.4:c.819C>T p.Tyr273= p.Y273= ENST00000375537 NM_006709.3 273 taC/taT 0 -EIF2B4 UCSF GRCh37 2 27590049 27590049 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 195 31 268 0 ENST00000451130.2:c.965C>T p.Ala322Val p.A322V ENST00000451130 NM_172195.3 322 gCa/gTa 0 -EIF5A UCSF GRCh37 17 7210382 7210382 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 39 78 0 ENST00000336452.7:c.17G>A p.Gly6Glu p.G6E ENST00000336452 NM_001143760.1 6 gGg/gAg 0 -ELF5 UCSF GRCh37 11 34515099 34515099 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 167 22 251 0 ENST00000312319.2:c.312G>A p.Gln104= p.Q104= ENST00000312319 NM_001243081.1 104 caG/caA 0 -ELMO2 UCSF GRCh37 20 44999118 44999118 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 315 49 415 0 ENST00000290246.6:c.1848C>T p.Pro616= p.P616= ENST00000290246 NM_133171.3 616 ccC/ccT 0 -ELMO3 UCSF GRCh37 16 67237579 67237579 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 40 376 0 ENST00000393997.2:c.2121G>A p.Trp707Ter p.W707* ENST00000393997 NM_024712.3 707 tgG/tgA 0 -ELP3 UCSF GRCh37 8 27987165 27987165 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 22 93 0 ENST00000256398.8:c.764C>T p.Ala255Val p.A255V ENST00000256398 NM_018091.5 255 gCt/gTt 0 -EMILIN3 UCSF GRCh37 20 39989948 39989948 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 12 119 0 ENST00000332312.3:c.2261C>T p.Ala754Val p.A754V ENST00000332312 NM_052846.1 754 gCc/gTc 0 -EML3 UCSF GRCh37 11 62371283 62371283 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 366 49 436 1 ENST00000394773.2:c.2175C>T p.His725= p.H725= ENST00000394773 NM_153265.2 725 caC/caT 0 -EMR3 UCSF GRCh37 19 14755077 14755077 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 10 27 0 ENST00000253673.5:c.893G>A p.Ser298Asn p.S298N ENST00000253673 NM_032571.3 298 aGt/aAt 0 -ENPEP UCSF GRCh37 4 111430940 111430940 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 17 127 0 ENST00000265162.5:c.1171G>A p.Val391Ile p.V391I ENST00000265162 NM_001977.3 391 Gtt/Att 0 -ENTPD5 UCSF GRCh37 14 74436818 74436818 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 12 189 0 ENST00000334696.6:c.1095C>T p.Asn365= p.N365= ENST00000334696 NM_001249.2 365 aaC/aaT 0 -ENTPD8 UCSF GRCh37 9 140332632 140332632 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 5 42 0 ENST00000371506.2:c.106C>T p.Leu36Phe p.L36F ENST00000371506 NM_001033113.1 36 Ctc/Ttc 0 -EOMES UCSF GRCh37 3 27761734 27761734 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 15 133 0 ENST00000295743.4:c.964G>A p.Ala322Thr p.A322T ENST00000295743 NM_005442.3 322 Gcg/Acg 0 -EPC2 UCSF GRCh37 2 149542240 149542240 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 313 41 450 0 ENST00000258484.6:c.2021C>T p.Thr674Ile p.T674I ENST00000258484 NM_015630.3 674 aCc/aTc 0 -EPC2 UCSF GRCh37 2 149526793 149526793 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 23 210 0 ENST00000258484.6:c.1214G>A p.Gly405Glu p.G405E ENST00000258484 NM_015630.3 405 gGa/gAa 0 -EPHA5 UCSF GRCh37 4 66467870 66467870 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 28 242 0 ENST00000273854.3:c.399C>T p.Thr133= p.T133= ENST00000273854 NM_004439.5 133 acC/acT 0 -EPHA7 UCSF GRCh37 6 94124467 94124470 + protein_altering_variant In_Frame_Del DEL TTAG TTAG A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 0 ENST00000369303.4:c.113_116delinsT p.Ser38_Lys39delinsLeu p.S38_K39delinsL ENST00000369303 NM_004440.3 38 tCTAAa/tTa 0 -EPHB3 UCSF GRCh37 3 184298276 184298276 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 134 22 170 0 ENST00000330394.2:c.2259C>T p.Asn753= p.N753= ENST00000330394 NM_004443.3 753 aaC/aaT 0 -EPHB4 UCSF GRCh37 7 100402857 100402857 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 101 342 1 ENST00000358173.3:c.2765G>A p.Gly922Glu p.G922E ENST00000358173 NM_004444.4 922 gGa/gAa 0 -EPHB6 UCSF GRCh37 7 142566777 142566777 + synonymous_variant Silent SNP A A T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 39 107 0 ENST00000392957.2:c.2334A>T p.Gly778= p.G778= ENST00000392957 NM_004445.4 778 ggA/ggT 0 -EPM2AIP1 UCSF GRCh37 3 37033028 37033028 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 401 57 586 0 ENST00000322716.5:c.1541C>T p.Thr514Ile p.T514I ENST00000322716 NM_014805.3 514 aCt/aTt 0 -EPOR UCSF GRCh37 19 11494794 11494794 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 15 116 0 ENST00000222139.6:c.90C>T p.Leu30= p.L30= ENST00000222139 NM_000121.3 30 ctC/ctT 0 -EPS15 UCSF GRCh37 1 51829613 51829613 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 17 195 0 ENST00000371733.3:c.2284G>A p.Val762Ile p.V762I ENST00000371733 NM_001981.2 762 Gtc/Atc 0 -EPS15L1 UCSF GRCh37 19 16539545 16539545 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 9 89 0 ENST00000455140.2:c.526G>A p.Asp176Asn p.D176N ENST00000455140 NM_001258374.1 176 Gat/Aat 0 -ERBB2 UCSF GRCh37 17 37883081 37883081 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 88 10 97 0 ENST00000269571.5:c.2984G>A p.Gly995Asp p.G995D ENST00000269571 995 gGc/gAc 0 -ERBB3 UCSF GRCh37 12 56489094 56489094 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 25 156 0 ENST00000267101.3:c.1913G>A p.Gly638Asp p.G638D ENST00000267101 NM_001982.3 638 gGc/gAc 0 -ERCC2 UCSF GRCh37 19 45872002 45872002 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 22 241 0 ENST00000391945.4:c.247-1G>A p.X83_splice ENST00000391945 NM_000400.3 0 -ERCC6L UCSF GRCh37 X 71427460 71427460 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 47 177 0 ENST00000334463.3:c.1157C>T p.Ser386Phe p.S386F ENST00000334463 NM_017669.2 386 tCt/tTt 0 -ERG UCSF GRCh37 21 39775600 39775600 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 23 176 1 ENST00000288319.7:c.420G>A p.Arg140= p.R140= ENST00000288319 NM_182918.3 140 cgG/cgA 0 -ERN1 UCSF GRCh37 17 62130215 62130215 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 11 79 0 ENST00000433197.3:c.2178C>T p.Ser726= p.S726= ENST00000433197 NM_001433.3 726 agC/agT 0 -ESF1 UCSF GRCh37 20 13740436 13740438 + inframe_deletion In_Frame_Del DEL TTC TTC - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 0 ENST00000202816.1:c.1729_1731del p.Glu577del p.E577del ENST00000202816 NM_001276380.1 577 GAA/- 0 -ESPN UCSF GRCh37 1 6500850 6500850 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 5 20 0 ENST00000377828.1:c.840C>T p.Ala280= p.A280= ENST00000377828 NM_031475.2 280 gcC/gcT 0 -ESR1 UCSF GRCh37 6 152129195 152129195 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 366 75 553 0 ENST00000206249.3:c.148G>A p.Ala50Thr p.A50T ENST00000206249 NM_000125.3 50 Gcc/Acc 0 -ETV5 UCSF GRCh37 3 185797664 185797664 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 4 32 0 ENST00000306376.5:c.592C>T p.His198Tyr p.H198Y ENST00000306376 NM_004454.2 198 Cat/Tat 0 -EVPL UCSF GRCh37 17 74006574 74006574 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 23 231 0 ENST00000301607.3:c.2712C>T p.Ser904= p.S904= ENST00000301607 NM_001988.2 904 tcC/tcT 0 -EVX1 UCSF GRCh37 7 27285969 27285969 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 73 250 0 ENST00000496902.4:c.1149C>T p.Thr383= p.T383= ENST00000496902 383 acC/acT 0 -EXD2 UCSF GRCh37 14 69704378 69704378 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 238 41 338 0 ENST00000409018.3:c.1379C>T p.Thr460Ile p.T460I ENST00000409018 NM_001193361.1 460 aCc/aTc 0 -EXOC5 UCSF GRCh37 14 57675449 57675449 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 10 69 0 ENST00000413566.2:c.2005G>A p.Asp669Asn p.D669N ENST00000413566 NM_006544.3 669 Gat/Aat 0 -EXOSC1 UCSF GRCh37 10 99200978 99200978 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 12 196 0 ENST00000370902.3:c.261C>T p.Ile87= p.I87= ENST00000370902 NM_016046.3 87 atC/atT 0 -EXOSC2 UCSF GRCh37 9 133570909 133570909 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 25 179 0 ENST00000372358.5:c.153G>A p.Lys51= p.K51= ENST00000372358 51 aaG/aaA 0 -F12 UCSF GRCh37 5 176829423 176829423 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 19 147 0 ENST00000253496.3:c.1718C>T p.Ala573Val p.A573V ENST00000253496 NM_000505.3 573 gCt/gTt 0 -F8 UCSF GRCh37 X 154132241 154132241 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 49 191 0 ENST00000360256.4:c.5938C>T p.His1980Tyr p.H1980Y ENST00000360256 NM_000132.3 1980 Cat/Tat 0 -F9 UCSF GRCh37 X 138644119 138644119 + missense_variant Missense_Mutation SNP A A T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 17 112 0 ENST00000218099.2:c.1275A>T p.Leu425Phe p.L425F ENST00000218099 NM_000133.3 425 ttA/ttT 0 -FAF2 UCSF GRCh37 5 175925919 175925919 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 20 102 0 ENST00000261942.6:c.844G>A p.Glu282Lys p.E282K ENST00000261942 NM_014613.2 282 Gaa/Aaa 0 -FAF2 UCSF GRCh37 5 175923506 175923506 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 22 190 0 ENST00000261942.6:c.681G>A p.Glu227= p.E227= ENST00000261942 NM_014613.2 227 gaG/gaA 0 -FAIM UCSF GRCh37 3 138340249 138340249 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 8 65 0 ENST00000338446.4:c.81C>T p.Ser27= p.S27= ENST00000338446 NM_001033030.1 27 agC/agT 0 -FAM111B UCSF GRCh37 11 58892470 58892470 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 190 29 292 0 ENST00000343597.3:c.900G>A p.Gln300= p.Q300= ENST00000343597 NM_198947.3 300 caG/caA 0 -FAM120A UCSF GRCh37 9 96214591 96214591 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 23 142 0 ENST00000277165.6:c.394C>T p.Pro132Ser p.P132S ENST00000277165 NM_014612.3 132 Ccg/Tcg 0 -FAM123B UCSF GRCh37 X 63412254 63412254 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 32 152 0 ENST00000330258.3:c.913G>A p.Val305Met p.V305M ENST00000330258 NM_152424.3 305 Gtg/Atg 0 -FAM124A UCSF GRCh37 13 51854925 51854925 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 24 195 0 ENST00000280057.6:c.1282G>A p.Ala428Thr p.A428T ENST00000280057 NM_145019.3 428 Gca/Aca 0 -FAM125B UCSF GRCh37 9 129102882 129102882 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 27 189 0 ENST00000361171.3:c.177G>A p.Arg59= p.R59= ENST00000361171 NM_033446.2 59 cgG/cgA 0 -FAM129B UCSF GRCh37 9 130270371 130270371 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 14 121 0 ENST00000373312.3:c.1542+1G>A p.X514_splice ENST00000373312 NM_022833.2 0 -FAM13A UCSF GRCh37 4 89658648 89658648 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 171 30 231 0 ENST00000264344.5:c.2621C>T p.Thr874Ile p.T874I ENST00000264344 NM_014883.3 874 aCt/aTt 0 -FAM13A UCSF GRCh37 4 89950686 89950686 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 20 136 0 ENST00000264344.5:c.142C>T p.Leu48Phe p.L48F ENST00000264344 NM_014883.3 48 Ctt/Ttt 0 -FAM150A UCSF GRCh37 8 53477802 53477802 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 7 30 0 ENST00000358543.4:c.15G>A p.Lys5= p.K5= ENST00000358543 NM_207413.3 5 aaG/aaA 0 -FAM159B UCSF GRCh37 5 63986544 63986544 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 19 139 0 ENST00000389074.5:c.94G>A p.Ala32Thr p.A32T ENST00000389074 NM_001164442.1 32 Gcg/Acg 0 -FAM161A UCSF GRCh37 2 62054254 62054254 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 27 255 0 ENST00000404929.1:c.1991C>T p.Thr664Ile p.T664I ENST00000404929 NM_001201543.1 664 aCt/aTt 0 -FAM169A UCSF GRCh37 5 74137408 74137408 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 17 91 0 ENST00000389156.4:c.94C>T p.Pro32Ser p.P32S ENST00000389156 NM_015566.2 32 Cct/Tct 0 -FAM178B UCSF GRCh37 2 97637851 97637851 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 8 78 0 ENST00000490605.2:c.351C>T p.Phe117= p.F117= ENST00000490605 117 ttC/ttT 0 -FAM179B UCSF GRCh37 14 45478150 45478150 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 22 194 0 ENST00000361577.3:c.2939C>T p.Ala980Val p.A980V ENST00000361577 NM_015091.2 980 gCa/gTa 0 -FAM184A UCSF GRCh37 6 119345658 119345658 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 23 261 0 ENST00000338891.7:c.480G>A p.Glu160= p.E160= ENST00000338891 NM_024581.4 160 gaG/gaA 0 -FAM184B UCSF GRCh37 4 17654508 17654508 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 12 125 0 ENST00000265018.3:c.2136G>A p.Arg712= p.R712= ENST00000265018 NM_015688.1 712 agG/agA 0 -FAM193A UCSF GRCh37 4 2695364 2695364 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 230 40 336 1 ENST00000324666.5:c.1982C>T p.Ala661Val p.A661V ENST00000324666 NM_001256666.1 661 gCc/gTc 0 -FAM19A1 UCSF GRCh37 3 68466434 68466434 + synonymous_variant Silent SNP A A C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 11 9 29 0 ENST00000478136.1:c.123A>C p.Gly41= p.G41= ENST00000478136 NM_213609.3 41 ggA/ggC 0 -FAM20A UCSF GRCh37 17 66551789 66551789 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 13 113 0 ENST00000592554.1:c.500G>A p.Gly167Asp p.G167D ENST00000592554 NM_001243746.1 167 gGt/gAt 0 -FAM40A UCSF GRCh37 1 110582044 110582044 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 15 152 0 ENST00000369795.3:c.488C>T p.Ala163Val p.A163V ENST00000369795 NM_033088.3 163 gCa/gTa 0 -FAM69A UCSF GRCh37 1 93309726 93309726 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 116 25 154 0 ENST00000370310.4:c.501C>T p.Leu167= p.L167= ENST00000370310 NM_001006605.4 167 ctC/ctT 0 -FAM69B UCSF GRCh37 9 139617667 139617667 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 7 71 0 ENST00000371692.4:c.737C>T p.Pro246Leu p.P246L ENST00000371692 NM_152421.3 246 cCc/cTc 0 -GARIN5A UCSF GRCh37 19 50979499 50979499 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 160 27 265 0 ENST00000595790.1:c.147C>T p.Leu49= p.L49= ENST00000595790 NM_138411.1 49 ctC/ctT 0 -FAM83G UCSF GRCh37 17 18874698 18874698 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 18 179 0 ENST00000388995.6:c.2446G>A p.Ala816Thr p.A816T ENST00000388995 816 Gcc/Acc 0 -FAM89A UCSF GRCh37 1 231175885 231175885 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 9 38 0 ENST00000366654.4:c.73C>T p.Pro25Ser p.P25S ENST00000366654 NM_198552.2 25 Ccc/Tcc 0 -FANCL UCSF GRCh37 2 58390002 58390002 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 3 34 0 ENST00000402135.3:c.917C>T p.Ser306Phe p.S306F ENST00000402135 NM_001114636.1 306 tCt/tTt 0 -FAR2 UCSF GRCh37 12 29486702 29486702 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 16 168 0 ENST00000536681.3:c.1523G>A p.Arg508Lys p.R508K ENST00000536681 NM_001271783.1 508 aGa/aAa 0 -FASN UCSF GRCh37 17 80037425 80037425 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 176 29 208 0 ENST00000306749.2:c.7206C>T p.Asp2402= p.D2402= ENST00000306749 NM_004104.4 2402 gaC/gaT 0 -FASTKD1 UCSF GRCh37 2 170393787 170393787 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 11 178 0 ENST00000453153.2:c.2138G>A p.Gly713Glu p.G713E ENST00000453153 NM_024622.4 713 gGa/gAa 0 -FAT1 UCSF GRCh37 4 187542680 187542680 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 20 235 0 ENST00000441802.2:c.5060G>A p.Gly1687Glu p.G1687E ENST00000441802 NM_005245.3 1687 gGg/gAg 0 -FAT2 UCSF GRCh37 5 150886790 150886790 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 254 37 380 0 ENST00000261800.5:c.12442C>T p.Leu4148Phe p.L4148F ENST00000261800 NM_001447.2 4148 Ctc/Ttc 0 -FAT2 UCSF GRCh37 5 150908849 150908849 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 15 64 0 ENST00000261800.5:c.9916A>G p.Thr3306Ala p.T3306A ENST00000261800 NM_001447.2 3306 Aca/Gca 0 -FAT3 UCSF GRCh37 11 92533914 92533914 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 8 61 0 ENST00000298047.6:c.7735G>A p.Gly2579Arg p.G2579R ENST00000298047 2579 Ggg/Agg 0 -FAT4 UCSF GRCh37 4 126355424 126355424 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 43 375 0 ENST00000394329.3:c.7043G>A p.Gly2348Glu p.G2348E ENST00000394329 NM_024582.4 2348 gGa/gAa 0 -FAT4 UCSF GRCh37 4 126241448 126241448 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 243 87 688 0 ENST00000394329.3:c.3882C>T p.Pro1294= p.P1294= ENST00000394329 NM_024582.4 1294 ccC/ccT 0 -FBN3 UCSF GRCh37 19 8174197 8174197 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 11 68 0 ENST00000600128.1:c.4532G>A p.Gly1511Glu p.G1511E ENST00000600128 1511 gGa/gAa 0 -FBP1 UCSF GRCh37 9 97372255 97372255 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 9 82 0 ENST00000415431.1:c.515C>T p.Thr172Ile p.T172I ENST00000415431 NM_001127628.1 172 aCc/aTc 0 -FBXL14 UCSF GRCh37 12 1702849 1702849 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 57 124 0 ENST00000339235.3:c.384G>A p.Lys128= p.K128= ENST00000339235 NM_152441.2 128 aaG/aaA 0 -FBXL15 UCSF GRCh37 10 104181808 104181808 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 22 95 0 ENST00000224862.3:c.472C>T p.Leu158= p.L158= ENST00000224862 NM_024326.3 158 Ctg/Ttg 0 -FBXO24 UCSF GRCh37 7 100190601 100190601 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 10 43 0 ENST00000427939.2:c.868G>A p.Val290Ile p.V290I ENST00000427939 NM_012172.4 290 Gtt/Att 0 -FBXO38 UCSF GRCh37 5 147785859 147785859 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 226 39 379 0 ENST00000394370.3:c.770G>A p.Gly257Asp p.G257D ENST00000394370 257 gGc/gAc 0 -FBXO40 UCSF GRCh37 3 121340471 121340471 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 207 26 312 0 ENST00000338040.4:c.195C>T p.Cys65= p.C65= ENST00000338040 NM_016298.3 65 tgC/tgT 0 -FBXO41 UCSF GRCh37 2 73496421 73496421 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 11 97 0 ENST00000521871.1:c.338C>T p.Ala113Val p.A113V ENST00000521871 113 gCt/gTt 0 -FBXO8 UCSF GRCh37 4 175158624 175158624 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 34 285 0 ENST00000393674.2:c.899G>A p.Ser300Asn p.S300N ENST00000393674 NM_012180.2 300 aGt/aAt 0 -FBXW11 UCSF GRCh37 5 171337700 171337700 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 17 148 0 ENST00000265094.5:c.249G>A p.Trp83Ter p.W83* ENST00000265094 NM_012300.2 83 tgG/tgA 0 -FBXW7 UCSF GRCh37 4 153303474 153303474 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 15 206 0 ENST00000281708.4:c.501+28981G>A *167* ENST00000281708 NM_033632.3 0 -FCGBP UCSF GRCh37 19 40362965 40362965 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 17 118 0 ENST00000221347.6:c.15105G>A p.Val5035= p.V5035= ENST00000221347 NM_003890.2 5035 gtG/gtA 0 -FDX1L UCSF GRCh37 19 10426655 10426655 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 30 232 0 ENST00000393708.3:c.18C>T p.Ala6= p.A6= ENST00000393708 NM_001031734.2 6 gcC/gcT 0 -FER1L5 UCSF GRCh37 2 97363883 97363883 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 14 169 0 ENST00000397978.2:n.657G>A *219* ENST00000397978 0 -FES UCSF GRCh37 15 91433429 91433429 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 10 96 0 ENST00000328850.3:c.1157C>T p.Thr386Ile p.T386I ENST00000328850 NM_002005.3 386 aCc/aTc 0 -FFAR1 UCSF GRCh37 19 35843297 35843297 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 10 100 0 ENST00000246553.2:c.843G>A p.Arg281= p.R281= ENST00000246553 NM_005303.2 281 agG/agA 0 -FGD2 UCSF GRCh37 6 36990014 36990014 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 15 124 0 ENST00000274963.8:c.1327-1G>A p.X443_splice ENST00000274963 NM_173558.3 0 -FGD4 UCSF GRCh37 12 32764155 32764155 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 26 187 0 ENST00000427716.2:c.1276G>A p.Glu426Lys p.E426K ENST00000427716 NM_139241.2 426 Gaa/Aaa 0 -FHAD1 UCSF GRCh37 1 15639596 15639596 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 12 80 0 ENST00000375995.3:c.201G>A p.Glu67= p.E67= ENST00000375995 67 gaG/gaA 0 -FIGNL2 UCSF GRCh37 12 52214542 52214542 + non_coding_transcript_exon_variant RNA SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 15 151 0 ENST00000564840.1:n.1658C>T *553* ENST00000564840 0 -FILIP1L UCSF GRCh37 3 99569857 99569857 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 184 34 365 0 ENST00000354552.3:c.663G>A p.Lys221= p.K221= ENST00000354552 NM_182909.2 221 aaG/aaA 0 -FIP1L1 UCSF GRCh37 4 54319155 54319155 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 14 105 0 ENST00000337488.6:c.1354G>A p.Asp452Asn p.D452N ENST00000337488 NM_030917.3 452 Gac/Aac 0 -FKBP15 UCSF GRCh37 9 115935780 115935780 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 12 152 0 ENST00000238256.3:c.2485G>A p.Ala829Thr p.A829T ENST00000238256 NM_015258.1 829 Gca/Aca 0 -FKBP5 UCSF GRCh37 6 35545001 35545001 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 21 191 0 ENST00000536438.1:c.1036C>T p.Leu346= p.L346= ENST00000536438 NM_001145775.1 346 Ctg/Ttg 0 -FLG UCSF GRCh37 1 152286765 152286765 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 255 36 463 0 ENST00000368799.1:c.597G>A p.Arg199= p.R199= ENST00000368799 NM_002016.1 199 agG/agA 0 -FLG UCSF GRCh37 1 152280705 152280705 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 31 394 0 ENST00000368799.1:c.6657C>T p.Ser2219= p.S2219= ENST00000368799 NM_002016.1 2219 agC/agT 0 -FLJ22184 UCSF GRCh37 19 7934003 7934003 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 18 70 0 ENST00000539422.1:c.3957C>T p.Ile1319= p.I1319= ENST00000539422 NM_001190467.1 1319 atC/atT 0 -FLNB UCSF GRCh37 3 58092550 58092550 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 292 177 518 0 ENST00000490882.1:c.1891C>T p.Pro631Ser p.P631S ENST00000490882 NM_001164317.1 631 Ccg/Tcg 0 -FLNC UCSF GRCh37 7 128478320 128478320 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 269 38 261 0 ENST00000325888.8:c.1048-1G>A p.X350_splice ENST00000325888 NM_001458.4 0 -FLT3LG UCSF GRCh37 19 49983661 49983661 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 13 100 0 ENST00000594009.1:c.588C>T p.Leu196= p.L196= ENST00000594009 NM_001204503.1 196 ctC/ctT 0 -FLVCR1 UCSF GRCh37 1 213032485 213032485 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 47 0 ENST00000366971.4:c.691C>T p.Pro231Ser p.P231S ENST00000366971 NM_014053.3 231 Ccc/Tcc 0 -FLYWCH1 UCSF GRCh37 16 2988390 2988390 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 23 167 0 ENST00000416288.2:c.1980C>T p.Asp660= p.D660= ENST00000416288 NM_032296.2 660 gaC/gaT 0 -FMO5 UCSF GRCh37 1 146673066 146673066 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 9 105 0 ENST00000254090.4:c.851C>T p.Thr284Ile p.T284I ENST00000254090 NM_001461.3 284 aCc/aTc 0 -FMOD UCSF GRCh37 1 203317066 203317066 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 16 108 0 ENST00000354955.4:c.333C>T p.Tyr111= p.Y111= ENST00000354955 NM_002023.4 111 taC/taT 0 -FNDC8 UCSF GRCh37 17 33454374 33454374 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 210 47 314 0 ENST00000158009.5:c.523G>A p.Val175Ile p.V175I ENST00000158009 NM_017559.2 175 Gtt/Att 0 -FOXC1 UCSF GRCh37 6 1610723 1610723 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 7 27 0 ENST00000380874.2:c.43G>A p.Val15Met p.V15M ENST00000380874 NM_001453.2 15 Gtg/Atg 0 -FOXE1 UCSF GRCh37 9 100616951 100616951 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 14 102 0 ENST00000375123.3:c.755C>T p.Ala252Val p.A252V ENST00000375123 NM_004473.3 252 gCc/gTc 0 -FOXM1 UCSF GRCh37 12 2983270 2983270 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 11 106 0 ENST00000342628.2:c.375C>T p.Thr125= p.T125= ENST00000342628 NM_202002.2 125 acC/acT 0 -FOXP1 UCSF GRCh37 3 71008464 71008464 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 328 55 478 0 ENST00000318789.4:c.1968C>T p.Asn656= p.N656= ENST00000318789 NM_032682.5 656 aaC/aaT 0 -FRAS1 UCSF GRCh37 4 79295343 79295343 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 5 43 0 ENST00000264895.6:c.3089C>T p.Ala1030Val p.A1030V ENST00000264895 NM_025074.6 1030 gCc/gTc 0 -FRAS1 UCSF GRCh37 4 79334210 79334210 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 12 128 0 ENST00000264895.6:c.4396G>A p.Val1466Met p.V1466M ENST00000264895 NM_025074.6 1466 Gtg/Atg 0 -FRAS1 UCSF GRCh37 4 79461764 79461764 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 13 100 0 ENST00000264895.6:c.11525G>A p.Arg3842His p.R3842H ENST00000264895 NM_025074.6 3842 cGc/cAc 0 -FRMD7 UCSF GRCh37 X 131212018 131212018 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 18 126 0 ENST00000298542.4:c.2027G>A p.Arg676Lys p.R676K ENST00000298542 NM_194277.2 676 aGa/aAa 0 -FRS3 UCSF GRCh37 6 41738438 41738438 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 32 184 0 ENST00000373018.3:c.1398G>A p.Met466Ile p.M466I ENST00000373018 NM_006653.4 466 atG/atA 0 -FSD2 UCSF GRCh37 15 83449004 83449004 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 7 39 0 ENST00000334574.8:c.982G>A p.Ala328Thr p.A328T ENST00000334574 328 Gct/Act 0 -FSIP1 UCSF GRCh37 15 39910257 39910257 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 116 16 266 0 ENST00000350221.3:c.1378G>A p.Val460Ile p.V460I ENST00000350221 NM_152597.4 460 Gtc/Atc 0 -FTSJ3 UCSF GRCh37 17 61903936 61903936 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 8 59 0 ENST00000427159.2:c.164C>T p.Pro55Leu p.P55L ENST00000427159 NM_017647.3 55 cCa/cTa 0 -FURIN UCSF GRCh37 15 91423126 91423126 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 13 119 0 ENST00000268171.3:c.1288G>A p.Asp430Asn p.D430N ENST00000268171 NM_002569.2 430 Gac/Aac 0 -FUT5 UCSF GRCh37 19 5867208 5867208 + missense_variant Missense_Mutation SNP C C T snp132_rs61731581 P24_Rec2 Untested WXS Illumina HiSeq 60 13 67 0 ENST00000252675.5:c.529G>A p.Asp177Asn p.D177N ENST00000252675 177 Gac/Aac 0 -FUT9 UCSF GRCh37 6 96651405 96651405 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 206 24 269 0 ENST00000302103.5:c.374G>A p.Arg125Lys p.R125K ENST00000302103 NM_006581.3 125 aGg/aAg 0 -FXN UCSF GRCh37 9 71668084 71668084 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 7 65 0 ENST00000377270.3:c.292C>T p.Leu98= p.L98= ENST00000377270 NM_000144.4 98 Cta/Tta 0 -FZD10 UCSF GRCh37 12 130648588 130648588 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 23 234 0 ENST00000229030.4:c.1101C>T p.Ile367= p.I367= ENST00000229030 367 atC/atT 0 -G3BP2 UCSF GRCh37 4 76571553 76571553 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 155 19 273 0 ENST00000359707.4:c.1145C>T p.Ser382Phe p.S382F ENST00000359707 NM_203505.2 382 tCt/tTt 0 -GABBR1 UCSF GRCh37 6 29599359 29599359 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 7 60 0 ENST00000377034.4:c.103C>T p.Pro35Ser p.P35S ENST00000377034 NM_001470.2 35 Ccg/Tcg 0 -GABRR1 UCSF GRCh37 6 89888600 89888600 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 206 33 272 0 ENST00000454853.2:c.1329C>T p.Ser443= p.S443= ENST00000454853 NM_001256704.1 443 agC/agT 0 -GALNT10 UCSF GRCh37 5 153570543 153570543 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 8 51 0 ENST00000297107.6:c.117C>T p.Thr39= p.T39= ENST00000297107 NM_198321.3 39 acC/acT 0 -GALNT5 UCSF GRCh37 2 158115992 158115992 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 10 94 0 ENST00000259056.4:c.1398C>T p.Val466= p.V466= ENST00000259056 NM_014568.1 466 gtC/gtT 0 -GALNT7 UCSF GRCh37 4 174169194 174169194 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 3 42 0 ENST00000265000.4:c.190G>A p.Asp64Asn p.D64N ENST00000265000 NM_017423.2 64 Gac/Aac 0 -GALNTL1 UCSF GRCh37 14 69814638 69814638 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 20 185 0 ENST00000337827.4:c.1458C>T p.Cys486= p.C486= ENST00000337827 NM_020692.2 486 tgC/tgT 0 -GALNTL2 UCSF GRCh37 3 16237308 16237308 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 17 9 20 0 ENST00000339732.5:c.581G>A p.Ser194Asn p.S194N ENST00000339732 NM_054110.4 194 aGc/aAc 0 -GANAB UCSF GRCh37 11 62402333 62402333 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 26 162 0 ENST00000346178.4:c.520G>A p.Gly174Arg p.G174R ENST00000346178 NM_198335.3 174 Gga/Aga 0 -GATA1 UCSF GRCh37 X 48650557 48650557 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 17 192 0 ENST00000376670.3:c.527C>T p.Thr176Ile p.T176I ENST00000376670 NM_002049.3 176 aCc/aTc 0 -GBAS UCSF GRCh37 7 56049253 56049253 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 4 38 0 ENST00000322090.3:c.366C>T p.Asp122= p.D122= ENST00000322090 NM_001483.2 122 gaC/gaT 0 -GBF1 UCSF GRCh37 10 104136322 104136322 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 50 378 0 ENST00000369983.3:c.4050G>A p.Gly1350= p.G1350= ENST00000369983 NM_004193.2 1350 ggG/ggA 0 -GCLC UCSF GRCh37 6 53372382 53372382 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 47 136 0 ENST00000229416.6:c.980C>T p.Ser327Phe p.S327F ENST00000229416 NM_001197115.1 327 tCc/tTc 0 -GCN1L1 UCSF GRCh37 12 120585002 120585002 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 39 112 0 ENST00000300648.6:c.4801G>A p.Asp1601Asn p.D1601N ENST00000300648 NM_006836.1 1601 Gac/Aac 0 -GCNT2 UCSF GRCh37 6 10586526 10586526 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 34 307 0 ENST00000379597.3:c.926-35058G>A *309* ENST00000379597 0 -GDAP1 UCSF GRCh37 8 75276411 75276411 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 24 214 0 ENST00000220822.7:c.886G>A p.Val296Ile p.V296I ENST00000220822 NM_001040875.2 296 Gtc/Atc 0 -GDPD4 UCSF GRCh37 11 76928350 76928350 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 18 199 0 ENST00000315938.4:c.1535G>A p.Ser512Asn p.S512N ENST00000315938 NM_182833.1 512 aGt/aAt 0 -GDPD4 UCSF GRCh37 11 76990369 76990369 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 9 65 0 ENST00000315938.4:c.129C>T p.Ala43= p.A43= ENST00000315938 NM_182833.1 43 gcC/gcT 0 -GDPD5 UCSF GRCh37 11 75154180 75154180 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 12 75 0 ENST00000336898.3:c.948+1G>A p.X316_splice ENST00000336898 NM_030792.6 0 -GFOD1 UCSF GRCh37 6 13487026 13487026 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 218 164 395 0 ENST00000379287.3:c.97G>A p.Gly33Ser p.G33S ENST00000379287 NM_018988.3 33 Ggc/Agc 0 -GGA1 UCSF GRCh37 22 38026166 38026166 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 7 53 0 ENST00000343632.4:c.1320G>A p.Gln440= p.Q440= ENST00000343632 NM_013365.4 440 caG/caA 0 -GGA3 UCSF GRCh37 17 73237757 73237757 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 21 194 0 ENST00000245541.6:c.768G>A p.Glu256= p.E256= ENST00000245541 NM_138619.2 256 gaG/gaA 0 -GGT7 UCSF GRCh37 20 33460541 33460541 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 5 43 0 ENST00000336431.5:c.78C>T p.Ser26= p.S26= ENST00000336431 NM_178026.2 26 agC/agT 0 -GHITM UCSF GRCh37 10 85901270 85901270 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 29 199 0 ENST00000372134.3:c.14G>A p.Arg5Lys p.R5K ENST00000372134 NM_014394.2 5 aGg/aAg 0 -GIGYF1 UCSF GRCh37 7 100285184 100285184 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 49 165 0 ENST00000275732.5:c.317G>A p.Gly106Glu p.G106E ENST00000275732 NM_022574.4 106 gGg/gAg 0 -GIGYF1 UCSF GRCh37 7 100285626 100285626 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 21 200 0 ENST00000275732.5:c.143C>T p.Ala48Val p.A48V ENST00000275732 NM_022574.4 48 gCt/gTt 0 -GIGYF1 UCSF GRCh37 7 100280392 100280392 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 13 79 0 ENST00000275732.5:c.2421G>A p.Gly807= p.G807= ENST00000275732 NM_022574.4 807 ggG/ggA 0 -GIPC2 UCSF GRCh37 1 78511943 78511943 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 10 51 0 ENST00000370759.3:c.165C>T p.Gly55= p.G55= ENST00000370759 NM_017655.4 55 ggC/ggT 0 -GJA9 UCSF GRCh37 1 39340326 39340326 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 22 242 0 ENST00000357771.3:c.1445G>A p.Gly482Glu p.G482E ENST00000357771 NM_030772.4 482 gGg/gAg 0 -GJC2 UCSF GRCh37 1 228345498 228345498 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 7 85 0 ENST00000366714.2:c.39G>A p.Leu13= p.L13= ENST00000366714 NM_020435.3 13 ctG/ctA 0 -GLA UCSF GRCh37 X 100653432 100653432 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 12 53 0 ENST00000218516.3:c.925G>A p.Ala309Thr p.A309T ENST00000218516 NM_000169.2 309 Gct/Act 0 -GLI1 UCSF GRCh37 12 57865572 57865572 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 802 108 171 0 ENST00000228682.2:c.3049G>A p.Gly1017Ser p.G1017S ENST00000228682 NM_005269.2 1017 Ggc/Agc 0 -GNA11 UCSF GRCh37 19 3121050 3121050 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 17 130 0 ENST00000078429.4:c.953C>T p.Pro318Leu p.P318L ENST00000078429 NM_002067.2 318 cCc/cTc 0 -GNA12 UCSF GRCh37 7 2834768 2834768 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 195 74 236 0 ENST00000275364.3:c.319G>A p.Val107Ile p.V107I ENST00000275364 NM_007353.2 107 Gtt/Att 0 -GNB2L1 UCSF GRCh37 5 180666492 180666492 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 20 137 0 ENST00000512805.1:c.520G>A p.Val174Ile p.V174I ENST00000512805 NM_006098.4 174 Gtc/Atc 0 -GNPDA2 UCSF GRCh37 4 44709880 44709880 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 32 307 0 ENST00000295448.3:c.658G>A p.Val220Ile p.V220I ENST00000295448 NM_138335.2 220 Gtc/Atc 0 -GNPTAB UCSF GRCh37 12 102163923 102163923 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 27 254 0 ENST00000299314.7:c.1160C>T p.Ala387Val p.A387V ENST00000299314 NM_024312.4 387 gCt/gTt 0 -GNPTG UCSF GRCh37 16 1411918 1411918 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 191 25 222 0 ENST00000204679.4:c.279G>A p.Glu93= p.E93= ENST00000204679 NM_032520.4 93 gaG/gaA 0 -GOLGA1 UCSF GRCh37 9 127693594 127693594 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 6 48 0 ENST00000373555.4:c.226+1G>A p.X76_splice ENST00000373555 NM_002077.3 0 -GOLGA2 UCSF GRCh37 9 131028282 131028282 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 3 29 0 ENST00000421699.2:c.618C>T p.His206= p.H206= ENST00000421699 NM_004486.4 206 caC/caT 0 -GOLGB1 UCSF GRCh37 3 121412909 121412909 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 406 190 771 0 ENST00000393667.3:c.6461G>A p.Arg2154His p.R2154H ENST00000393667 NM_001256486.1 2154 cGc/cAc 0 -GOLGB1 UCSF GRCh37 3 121386937 121386937 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 8 77 0 ENST00000393667.3:c.9405C>T p.Asp3135= p.D3135= ENST00000393667 NM_001256486.1 3135 gaC/gaT 0 -GPIHBP1 UCSF GRCh37 8 144296979 144296979 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 10 97 0 ENST00000330824.2:c.273C>T p.Thr91= p.T91= ENST00000330824 NM_178172.3 91 acC/acT 0 -GPR124 UCSF GRCh37 8 37691227 37691227 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 28 189 0 ENST00000412232.2:c.1318G>A p.Ala440Thr p.A440T ENST00000412232 NM_032777.9 440 Gcg/Acg 0 -GPR126 UCSF GRCh37 6 142741137 142741137 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 18 154 0 ENST00000367609.3:c.3215G>A p.Ser1072Asn p.S1072N ENST00000367609 NM_198569.2 1072 aGc/aAc 0 -GPR132 UCSF GRCh37 14 105518041 105518041 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 22 199 0 ENST00000329797.3:c.433G>A p.Val145Met p.V145M ENST00000329797 NM_013345.3 145 Gtg/Atg 0 -GPR143 UCSF GRCh37 X 9714171 9714171 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 52 0 ENST00000467482.1:c.571G>A p.Ala191Thr p.A191T ENST00000467482 191 Gcc/Acc 0 -GPR156 UCSF GRCh37 3 119905531 119905531 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 194 37 276 0 ENST00000464295.1:c.574C>T p.Leu192Phe p.L192F ENST00000464295 192 Ctc/Ttc 0 -GPR160 UCSF GRCh37 3 169801841 169801841 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 224 29 368 0 ENST00000355897.5:c.81G>A p.Leu27= p.L27= ENST00000355897 NM_014373.2 27 ctG/ctA 0 -GPR179 UCSF GRCh37 17 36482967 36482967 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 468 90 649 0 ENST00000342292.4:c.6485C>T p.Pro2162Leu p.P2162L ENST00000342292 NM_001004334.2 2162 cCt/cTt 0 -GPR37L1 UCSF GRCh37 1 202097390 202097390 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 212 47 249 0 ENST00000367282.5:c.1152C>T p.Tyr384= p.Y384= ENST00000367282 NM_004767.3 384 taC/taT 0 -GPR50 UCSF GRCh37 X 150349701 150349701 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 49 231 0 ENST00000218316.3:c.1646C>T p.Ala549Val p.A549V ENST00000218316 NM_004224.3 549 gCc/gTc 0 -GPR77 UCSF GRCh37 19 47844575 47844575 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 27 226 0 ENST00000595464.1:c.519C>T p.Arg173= p.R173= ENST00000595464 NM_001271749.1 173 cgC/cgT 0 -GPR77 UCSF GRCh37 19 47844816 47844816 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 26 164 0 ENST00000595464.1:c.760C>T p.Leu254= p.L254= ENST00000595464 NM_001271749.1 254 Ctg/Ttg 0 -GPR98 UCSF GRCh37 5 89979842 89979842 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 27 228 0 ENST00000405460.2:c.6104C>T p.Thr2035Ile p.T2035I ENST00000405460 NM_032119.3 2035 aCt/aTt 0 -GPR98 UCSF GRCh37 5 90459629 90459629 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 23 212 0 ENST00000405460.2:c.18833C>T p.Ser6278Phe p.S6278F ENST00000405460 NM_032119.3 6278 tCt/tTt 0 -GPR98 UCSF GRCh37 5 89930943 89930943 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 13 128 0 ENST00000405460.2:c.1852G>A p.Glu618Lys p.E618K ENST00000405460 NM_032119.3 618 Gag/Aag 0 -GPR98 UCSF GRCh37 5 89939622 89939622 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 32 111 0 ENST00000405460.2:c.2556G>A p.Leu852= p.L852= ENST00000405460 NM_032119.3 852 ttG/ttA 0 -GPRIN3 UCSF GRCh37 4 90168988 90168988 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 14 142 0 ENST00000609438.1:c.2274G>A p.Gln758= p.Q758= ENST00000609438 NM_198281.2 758 caG/caA 0 -GRAMD1B UCSF GRCh37 11 123479372 123479372 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 233 42 361 0 ENST00000529750.1:c.1090G>A p.Val364Ile p.V364I ENST00000529750 NM_020716.1 364 Gtc/Atc 0 -GRAMD1B UCSF GRCh37 11 123448180 123448180 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 183 34 271 0 ENST00000529750.1:c.129G>A p.Glu43= p.E43= ENST00000529750 NM_020716.1 43 gaG/gaA 0 -GRHPR UCSF GRCh37 9 37436728 37436728 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 7 94 0 ENST00000318158.6:c.936C>T p.Asn312= p.N312= ENST00000318158 NM_012203.1 312 aaC/aaT 0 -GRID1 UCSF GRCh37 10 87362214 87362214 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 15 99 0 ENST00000327946.7:c.2846G>A p.Ser949Asn p.S949N ENST00000327946 NM_017551.2 949 aGc/aAc 0 -GRIN2A UCSF GRCh37 16 9857613 9857613 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 160 24 241 0 ENST00000330684.3:c.3788G>A p.Gly1263Glu p.G1263E ENST00000330684 NM_001134407.1 1263 gGg/gAg 0 -GRIPAP1 UCSF GRCh37 X 48832511 48832511 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 9 23 47 0 ENST00000376441.1:c.2197G>A p.Glu733Lys p.E733K ENST00000376441 NM_020137.3 733 Gaa/Aaa 0 -GRK4 UCSF GRCh37 4 3029687 3029687 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 20 120 0 ENST00000398052.4:c.1019G>A p.Gly340Glu p.G340E ENST00000398052 NM_182982.2 340 gGa/gAa 0 -GRK4 UCSF GRCh37 4 3021409 3021409 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 32 227 0 ENST00000398052.4:c.783C>T p.Cys261= p.C261= ENST00000398052 NM_182982.2 261 tgC/tgT 0 -GRM2 UCSF GRCh37 3 51743012 51743012 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 6 63 0 ENST00000395052.3:c.13C>T p.Leu5Phe p.L5F ENST00000395052 NM_000839.3 5 Ctt/Ttt 0 -GRM7 UCSF GRCh37 3 6903548 6903548 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 64 203 0 ENST00000357716.4:c.473G>A p.Gly158Glu p.G158E ENST00000357716 NM_000844.3 158 gGg/gAg 0 -GRM7 UCSF GRCh37 3 7620195 7620195 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 211 25 280 0 ENST00000357716.4:c.1602G>A p.Lys534= p.K534= ENST00000357716 NM_000844.3 534 aaG/aaA 0 -GRM8 UCSF GRCh37 7 126086146 126086146 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 45 165 0 ENST00000339582.2:c.2677+34G>A *893* ENST00000339582 0 -GRSF1 UCSF GRCh37 4 71698972 71698972 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 16 124 0 ENST00000254799.6:c.533G>A p.Gly178Asp p.G178D ENST00000254799 NM_002092.3 178 gGt/gAt 0 -GSDMA UCSF GRCh37 17 38132196 38132196 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 27 251 0 ENST00000301659.4:c.1041G>A p.Gln347= p.Q347= ENST00000301659 NM_178171.4 347 caG/caA 0 -GSDMB UCSF GRCh37 17 38062477 38062477 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 277 35 374 0 ENST00000418519.1:c.775G>A p.Glu259Lys p.E259K ENST00000418519 NM_001165958.1 259 Gag/Aag 0 -GSG2 UCSF GRCh37 17 3628465 3628465 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 490 68 672 0 ENST00000325418.4:c.1236C>T p.Leu412= p.L412= ENST00000325418 NM_031965.2 412 ctC/ctT 0 -GSPT1 UCSF GRCh37 16 11981543 11981543 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 23 132 0 ENST00000434724.2:c.841G>A p.Gly281Ser p.G281S ENST00000434724 NM_002094.3 281 Ggt/Agt 0 -GTF3C1 UCSF GRCh37 16 27500465 27500465 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 28 172 0 ENST00000356183.4:c.3328C>T p.Pro1110Ser p.P1110S ENST00000356183 NM_001520.3 1110 Cct/Tct 0 -GUCY1A2 UCSF GRCh37 11 106680975 106680975 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 234 41 325 0 ENST00000282249.2:c.1436C>T p.Thr479Ile p.T479I ENST00000282249 NM_001256424.1 479 aCt/aTt 0 -GUCY2D UCSF GRCh37 17 7906839 7906839 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 10 22 0 ENST00000254854.4:c.474G>A p.Glu158= p.E158= ENST00000254854 NM_000180.3 158 gaG/gaA 0 -GUSB UCSF GRCh37 7 65441159 65441159 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 21 158 0 ENST00000304895.4:c.755G>A p.Gly252Asp p.G252D ENST00000304895 NM_000181.3 252 gGc/gAc 0 -H6PD UCSF GRCh37 1 9324292 9324292 + synonymous_variant Silent SNP G G A snp132_rs112516051 P24_Rec2 Untested WXS Illumina HiSeq 107 21 123 0 ENST00000377403.2:c.1740G>A p.Arg580= p.R580= ENST00000377403 NM_004285.3 580 cgG/cgA 0 -HACL1 UCSF GRCh37 3 15631079 15631079 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 5 70 0 ENST00000321169.5:c.349G>A p.Glu117Lys p.E117K ENST00000321169 NM_012260.2 117 Gaa/Aaa 0 -HCAR1 UCSF GRCh37 12 123214554 123214554 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 13 125 0 ENST00000432564.1:c.333G>A p.Ala111= p.A111= ENST00000432564 NM_032554.3 111 gcG/gcA 0 -HCN2 UCSF GRCh37 19 613904 613904 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 8 51 0 ENST00000251287.2:c.1878C>T p.Thr626= p.T626= ENST00000251287 NM_001194.3 626 acC/acT 0 -HCN3 UCSF GRCh37 1 155257939 155257939 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 18 143 0 ENST00000368358.3:c.2010C>T p.Arg670= p.R670= ENST00000368358 NM_020897.2 670 cgC/cgT 0 -HCST UCSF GRCh37 19 36394294 36394294 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 363 42 484 0 ENST00000246551.4:c.85C>T p.Pro29Ser p.P29S ENST00000246551 29 Cct/Tct 0 -HDAC1 UCSF GRCh37 1 32782331 32782331 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 136 24 159 0 ENST00000373548.3:c.228G>A p.Leu76= p.L76= ENST00000373548 NM_004964.2 76 ttG/ttA 0 -HDDC3 UCSF GRCh37 15 91475314 91475314 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 7 103 0 ENST00000330334.3:c.139G>A p.Ala47Thr p.A47T ENST00000330334 NM_198527.2 47 Gcg/Acg 0 -HEATR4 UCSF GRCh37 14 73989011 73989011 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 9 98 0 ENST00000553558.1:c.846G>A p.Lys282= p.K282= ENST00000553558 NM_001220484.1 282 aaG/aaA 0 -HEATR5B UCSF GRCh37 2 37215869 37215869 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 5 50 0 ENST00000233099.5:c.5831C>T p.Ala1944Val p.A1944V ENST00000233099 NM_019024.1 1944 gCc/gTc 0 -HECTD1 UCSF GRCh37 14 31576053 31576053 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 184 26 235 0 ENST00000399332.1:c.7025G>A p.Gly2342Glu p.G2342E ENST00000399332 NM_015382.2 2342 gGa/gAa 0 -HECTD1 UCSF GRCh37 14 31613428 31613428 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 25 263 0 ENST00000399332.1:c.2667G>A p.Met889Ile p.M889I ENST00000399332 NM_015382.2 889 atG/atA 0 -HECTD1 UCSF GRCh37 14 31576304 31576304 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 11 161 0 ENST00000399332.1:c.6774C>T p.Asp2258= p.D2258= ENST00000399332 NM_015382.2 2258 gaC/gaT 0 -HECW1 UCSF GRCh37 7 43483838 43483838 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 16 120 0 ENST00000395891.2:c.1067G>A p.Ser356Asn p.S356N ENST00000395891 NM_015052.3 356 aGt/aAt 0 -HELT UCSF GRCh37 4 185941579 185941579 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 10 135 0 ENST00000338875.4:c.637C>T p.Leu213= p.L213= ENST00000338875 NM_001029887.1 213 Ctg/Ttg 0 -HELZ UCSF GRCh37 17 65104735 65104735 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 20 141 0 ENST00000358691.5:c.4597C>T p.Pro1533Ser p.P1533S ENST00000358691 NM_014877.3 1533 Cca/Tca 0 -HENMT1 UCSF GRCh37 1 109192907 109192910 + frameshift_variant Frame_Shift_Del DEL TTCC TTCC - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 0 ENST00000370032.5:c.679_682del p.Gly227SerfsTer55 p.G227Sfs*55 ENST00000370032 NM_144584.2 227 GGAAtc/tc 0 -HEPACAM UCSF GRCh37 11 124794649 124794649 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 200 36 240 0 ENST00000298251.4:c.402G>A p.Glu134= p.E134= ENST00000298251 NM_152722.4 134 gaG/gaA 0 -HEPH UCSF GRCh37 X 65414964 65414964 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 3 22 0 ENST00000519389.1:c.1556G>A p.Gly519Asp p.G519D ENST00000519389 519 gGt/gAt 0 -HEPHL1 UCSF GRCh37 11 93797501 93797501 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 11 91 0 ENST00000315765.9:c.633C>T p.Ile211= p.I211= ENST00000315765 NM_001098672.1 211 atC/atT 0 -HERC1 UCSF GRCh37 15 63922732 63922732 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 392 55 511 0 ENST00000443617.2:c.12899C>T p.Ala4300Val p.A4300V ENST00000443617 NM_003922.3 4300 gCt/gTt 0 -HERC2 UCSF GRCh37 15 28436142 28436142 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 6 75 0 ENST00000261609.7:c.8618C>T p.Thr2873Ile p.T2873I ENST00000261609 NM_004667.5 2873 aCc/aTc 0 -HERC2 UCSF GRCh37 15 28386941 28386941 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 234 32 333 0 ENST00000261609.7:c.11752C>T p.Leu3918= p.L3918= ENST00000261609 NM_004667.5 3918 Ctg/Ttg 0 -HERC5 UCSF GRCh37 4 89389506 89389506 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 7 76 0 ENST00000264350.3:c.1067C>T p.Thr356Ile p.T356I ENST00000264350 NM_016323.3 356 aCc/aTc 0 -HFE2 UCSF GRCh37 1 145416933 145416933 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 311 55 453 0 ENST00000336751.5:c.1278G>A p.Gln426= p.Q426= ENST00000336751 NM_213653.3 426 caG/caA 0 -HGFAC UCSF GRCh37 4 3449664 3449664 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 4 60 0 ENST00000382774.3:c.1538G>A p.Arg513His p.R513H ENST00000382774 NM_001528.2 513 cGc/cAc 0 -HIC2 UCSF GRCh37 22 21799854 21799854 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 8 73 0 ENST00000443632.2:c.670G>A p.Glu224Lys p.E224K ENST00000443632 224 Gag/Aag 0 -HIP1 UCSF GRCh37 7 75176264 75176264 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 63 0 ENST00000336926.6:c.2532C>T p.Leu844= p.L844= ENST00000336926 NM_005338.6 844 ctC/ctT 0 -HIST1H2AK UCSF GRCh37 6 27805862 27805862 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 12 104 0 ENST00000330180.2:c.256C>T p.Leu86= p.L86= ENST00000330180 NM_003510.2 86 Ctg/Ttg 0 -HIST1H2BK UCSF GRCh37 6 27114231 27114231 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 11 98 0 ENST00000396891.4:c.347C>T p.Thr116Ile p.T116I ENST00000396891 NM_080593.2 116 aCc/aTc 0 -HJURP UCSF GRCh37 2 234750741 234750741 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 164 28 294 0 ENST00000411486.2:c.685C>T p.Pro229Ser p.P229S ENST00000411486 NM_018410.3 229 Cct/Tct 0 -HMCN1 UCSF GRCh37 1 186039746 186039746 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 25 254 0 ENST00000271588.4:c.7996C>T p.Pro2666Ser p.P2666S ENST00000271588 NM_031935.2 2666 Cca/Tca 0 -HMCN1 UCSF GRCh37 1 186107095 186107095 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 4 37 0 ENST00000271588.4:c.13915C>T p.Pro4639Ser p.P4639S ENST00000271588 NM_031935.2 4639 Cct/Tct 0 -HMMR UCSF GRCh37 5 162896656 162896656 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 13 89 0 ENST00000393915.4:c.283C>T p.Leu95Phe p.L95F ENST00000393915 NM_001142556.1 95 Ctt/Ttt 0 -HNRNPU UCSF GRCh37 1 245021421 245021421 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 222 31 271 0 ENST00000283179.9:c.1386G>A p.Lys462= p.K462= ENST00000283179 462 aaG/aaA 0 -HNRNPUL1 UCSF GRCh37 19 41774156 41774156 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 5 58 0 ENST00000392006.3:c.324C>T p.Asn108= p.N108= ENST00000392006 NM_007040.3 108 aaC/aaT 0 -HOGA1 UCSF GRCh37 10 99358621 99358621 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 9 116 0 ENST00000370646.4:c.301C>T p.Pro101Ser p.P101S ENST00000370646 NM_138413.3 101 Ccc/Tcc 0 -HOXA11 UCSF GRCh37 7 27224318 27224318 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 145 28 120 0 ENST00000006015.3:c.446G>A p.Gly149Asp p.G149D ENST00000006015 NM_005523.5 149 gGc/gAc 0 -HOXB1 UCSF GRCh37 17 46608212 46608212 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 8 91 0 ENST00000239174.6:c.55C>T p.Pro19Ser p.P19S ENST00000239174 NM_002144.3 19 Ccc/Tcc 0 -HOXB2 UCSF GRCh37 17 46622042 46622042 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 8 42 0 ENST00000330070.4:c.232C>T p.Leu78= p.L78= ENST00000330070 NM_002145.3 78 Ctg/Ttg 0 -HOXB8 UCSF GRCh37 17 46691826 46691826 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 24 220 0 ENST00000239144.4:c.241G>A p.Asp81Asn p.D81N ENST00000239144 NM_024016.3 81 Gac/Aac 0 -HOXC12 UCSF GRCh37 12 54350237 54350237 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 11 62 0 ENST00000243103.3:c.736G>A p.Glu246Lys p.E246K ENST00000243103 NM_173860.1 246 Gaa/Aaa 0 -HOXC8 UCSF GRCh37 12 54403386 54403389 + frameshift_variant Frame_Shift_Del DEL GAGC GAGC AAG NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 0 ENST00000040584.4:c.318_321delinsAAG p.Ser107ArgfsTer23 p.S107Rfs*23 ENST00000040584 NM_022658.3 106 gcGAGC/gcAAG 0 -HOXD9 UCSF GRCh37 2 176987832 176987832 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 7 86 0 ENST00000249499.6:c.336C>T p.Pro112= p.P112= ENST00000249499 NM_014213.3 112 ccC/ccT 0 -HPCA UCSF GRCh37 1 33359382 33359382 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 161 31 226 0 ENST00000373467.3:c.501G>A p.Glu167= p.E167= ENST00000373467 NM_002143.2 167 gaG/gaA 0 -HPS4 UCSF GRCh37 22 26864578 26864578 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 18 115 0 ENST00000398145.2:c.608C>T p.Thr203Ile p.T203I ENST00000398145 NM_022081.5 203 aCc/aTc 0 -HPS4 UCSF GRCh37 22 26860252 26860252 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 27 149 0 ENST00000398145.2:c.1344C>T p.Gly448= p.G448= ENST00000398145 NM_022081.5 448 ggC/ggT 0 -HR UCSF GRCh37 8 21978318 21978318 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 22 158 0 ENST00000381418.4:c.2521C>T p.Pro841Ser p.P841S ENST00000381418 NM_005144.4 841 Ccc/Tcc 0 -HRC UCSF GRCh37 19 49656929 49656929 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 332 57 505 0 ENST00000252825.4:c.1566G>A p.Glu522= p.E522= ENST00000252825 NM_002152.2 522 gaG/gaA 0 -HRH2 UCSF GRCh37 5 175110611 175110611 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 423 74 627 0 ENST00000377291.2:c.375G>A p.Arg125= p.R125= ENST00000377291 NM_001131055.1 125 cgG/cgA 0 -HRNR UCSF GRCh37 1 152191458 152191458 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 13 131 0 ENST00000368801.2:c.2647C>T p.His883Tyr p.H883Y ENST00000368801 NM_001009931.2 883 Cat/Tat 0 -HSD3B1 UCSF GRCh37 1 120056648 120056648 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 9 113 0 ENST00000369413.3:c.502G>A p.Ala168Thr p.A168T ENST00000369413 168 Gcg/Acg 0 -HSD3B2 UCSF GRCh37 1 119964551 119964551 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 7 73 0 ENST00000543831.1:c.427G>A p.Glu143Lys p.E143K ENST00000543831 NM_001166120.1 143 Gaa/Aaa 0 -HSPA9 UCSF GRCh37 5 137895578 137895578 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 12 103 0 ENST00000297185.3:c.1385C>T p.Thr462Ile p.T462I ENST00000297185 NM_004134.6 462 aCc/aTc 0 -HSPB3 UCSF GRCh37 5 53751797 53751797 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 22 219 0 ENST00000302005.1:c.178G>A p.Ala60Thr p.A60T ENST00000302005 NM_006308.2 60 Gca/Aca 0 -HSPB9 UCSF GRCh37 17 40275126 40275126 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 164 19 141 0 ENST00000355067.3:c.258C>T p.Asp86= p.D86= ENST00000355067 NM_033194.2 86 gaC/gaT 0 -HSPB9 UCSF GRCh37 17 40275195 40275195 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 248 45 311 0 ENST00000355067.3:c.327C>T p.Asn109= p.N109= ENST00000355067 NM_033194.2 109 aaC/aaT 0 -HTRA3 UCSF GRCh37 4 8304200 8304200 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 21 223 0 ENST00000307358.2:c.1062G>A p.Lys354= p.K354= ENST00000307358 NM_053044.3 354 aaG/aaA 0 -HYAL2 UCSF GRCh37 3 50357515 50357515 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 70 169 0 ENST00000447092.1:c.406G>A p.Asp136Asn p.D136N ENST00000447092 136 Gac/Aac 0 -HYDIN UCSF GRCh37 16 70841568 70841568 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 35 138 0 ENST00000393567.2:c.15281C>T p.Thr5094Ile p.T5094I ENST00000393567 NM_001270974.1 5094 aCc/aTc 0 -HYI UCSF GRCh37 1 43917481 43917481 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 16 143 0 ENST00000372425.4:c.543C>T p.Leu181= p.L181= ENST00000372425 181 ctC/ctT 0 -IARS UCSF GRCh37 9 95009661 95009661 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 38 221 0 ENST00000375643.3:c.2789C>T p.Thr930Ile p.T930I ENST00000375643 NM_013417.3 930 aCt/aTt 0 -IBTK UCSF GRCh37 6 82936964 82936964 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 204 33 332 0 ENST00000306270.7:c.599C>T p.Thr200Ile p.T200I ENST00000306270 NM_015525.2 200 aCc/aTc 0 -ICA1L UCSF GRCh37 2 203644301 203644301 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 12 155 0 ENST00000392237.2:c.1404C>T p.Asn468= p.N468= ENST00000392237 NM_138468.4 468 aaC/aaT 0 -ID2 UCSF GRCh37 2 8822431 8822431 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 188 28 234 0 ENST00000234091.4:c.136C>T p.Leu46Phe p.L46F ENST00000234091 46 Ctc/Ttc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 9 8 28 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IER5 UCSF GRCh37 1 181058475 181058475 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 13 35 0 ENST00000367577.4:c.437G>A p.Gly146Glu p.G146E ENST00000367577 NM_016545.4 146 gGg/gAg 0 -IER5L UCSF GRCh37 9 131940255 131940255 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 14 131 0 ENST00000372491.2:c.77G>A p.Gly26Asp p.G26D ENST00000372491 NM_203434.2 26 gGc/gAc 0 -IFFO1 UCSF GRCh37 12 6660128 6660128 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 11 61 0 ENST00000356896.4:c.813C>T p.Asp271= p.D271= ENST00000356896 NM_001039670.2 271 gaC/gaT 0 -IFIT2 UCSF GRCh37 10 91066329 91066329 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 36 338 0 ENST00000371826.3:c.616C>T p.Pro206Ser p.P206S ENST00000371826 NM_001547.4 206 Cct/Tct 0 -IFITM2 UCSF GRCh37 11 308246 308246 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 8 40 0 ENST00000399817.4:c.54C>T p.Asn18= p.N18= ENST00000399817 NM_006435.2 18 aaC/aaT 0 -IFITM3 UCSF GRCh37 11 319894 319894 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 18 203 0 ENST00000399808.4:c.346C>T p.Leu116Phe p.L116F ENST00000399808 NM_021034.2 116 Ctc/Ttc 0 -IFNA8 UCSF GRCh37 9 21409203 21409203 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 25 292 0 ENST00000380205.1:c.28G>A p.Ala10Thr p.A10T ENST00000380205 NM_002170.3 10 Gcc/Acc 0 -IFNAR2 UCSF GRCh37 21 34635415 34635415 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 58 197 0 ENST00000342136.4:c.1158G>A p.Gln386= p.Q386= ENST00000342136 386 caG/caA 0 -IFT80 UCSF GRCh37 3 159976317 159976317 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 18 139 0 ENST00000326448.7:c.2330C>T p.Pro777Leu p.P777L ENST00000326448 NM_020800.2 777 cCc/cTc 0 -IGF1R UCSF GRCh37 15 99465622 99465622 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 32 235 0 ENST00000268035.6:c.2447G>A p.Ser816Asn p.S816N ENST00000268035 NM_000875.3 816 aGc/aAc 0 -IGF2R UCSF GRCh37 6 160485892 160485892 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 39 257 0 ENST00000356956.1:c.4074G>A p.Gln1358= p.Q1358= ENST00000356956 NM_000876.2 1358 caG/caA 0 -IGFBP1 UCSF GRCh37 7 45928394 45928394 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 5 45 0 ENST00000275525.3:c.143G>A p.Cys48Tyr p.C48Y ENST00000275525 NM_000596.2 48 tGc/tAc 0 -IGLON5 UCSF GRCh37 19 51830417 51830417 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 15 147 0 ENST00000270642.8:c.730C>T p.Pro244Ser p.P244S ENST00000270642 NM_001101372.1 244 Ccc/Tcc 0 -IGSF3 UCSF GRCh37 1 117122089 117122089 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 14 145 0 ENST00000369483.1:c.3319C>T p.Pro1107Ser p.P1107S ENST00000369483 NM_001542.3 1107 Ccc/Tcc 0 -IKBKB UCSF GRCh37 8 42129684 42129684 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 145 22 140 0 ENST00000520810.1:c.66G>A p.Gly22= p.G22= ENST00000520810 NM_001556.2 22 ggG/ggA 0 -IL17RB UCSF GRCh37 3 53890927 53890927 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 24 202 0 ENST00000288167.3:c.586G>A p.Val196Met p.V196M ENST00000288167 NM_018725.3 196 Gtg/Atg 0 -IL17RE UCSF GRCh37 3 9956252 9956252 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 191 29 214 0 ENST00000295980.3:c.1317G>A p.Gln439= p.Q439= ENST00000295980 NM_153483.2 439 caG/caA 0 -IL18 UCSF GRCh37 11 112025712 112025712 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.00273,snp132_rs61734549 P24_Rec2 Untested WXS Illumina HiSeq 90 38 171 0 ENST00000280357.7:c.65C>T p.Thr22Met p.T22M ENST00000280357 NM_001562.3 22 aCg/aTg 0 -IL1RAP UCSF GRCh37 3 190326923 190326923 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 11 139 0 ENST00000317757.3:c.490G>A p.Asp164Asn p.D164N ENST00000317757 NM_001167931.1 164 Gat/Aat 0 -IL1RAP UCSF GRCh37 3 190345117 190345117 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 11 138 0 ENST00000317757.3:c.781G>A p.Glu261Lys p.E261K ENST00000317757 NM_001167931.1 261 Gag/Aag 0 -IL20RB UCSF GRCh37 3 136710829 136710829 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 10 94 0 ENST00000329582.4:c.581C>T p.Thr194Ile p.T194I ENST00000329582 NM_144717.3 194 aCc/aTc 0 -IL21 UCSF GRCh37 4 123542065 123542065 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 80 290 0 ENST00000264497.3:c.102C>T p.Arg34= p.R34= ENST00000264497 NM_021803.3 34 cgC/cgT 0 -IL4R UCSF GRCh37 16 27353453 27353453 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 55 168 0 ENST00000395762.2:c.82G>A p.Val28Ile p.V28I ENST00000395762 NM_000418.3 28 Gtc/Atc 0 -IL4R UCSF GRCh37 16 27351507 27351507 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 30 71 0 ENST00000395762.2:c.-18G>A p.X6_splice ENST00000395762 NM_000418.3 0 -IMMP2L UCSF GRCh37 7 110303686 110303686 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 220 25 238 0 ENST00000405709.2:c.500G>A p.Arg167His p.R167H ENST00000405709 NM_032549.3 167 cGc/cAc 0 -INADL UCSF GRCh37 1 62293175 62293175 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 13 48 0 ENST00000371158.2:c.1900G>A p.Val634Ile p.V634I ENST00000371158 NM_176877.2 634 Gtt/Att 0 -INO80D UCSF GRCh37 2 206874416 206874416 + stop_gained Nonsense_Mutation SNP T T A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 12 65 0 ENST00000403263.1:c.1645A>T p.Lys549Ter p.K549* ENST00000403263 NM_017759.4 549 Aag/Tag 0 -INPP1 UCSF GRCh37 2 191224847 191224847 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 11 34 0 ENST00000392329.2:c.19G>A p.Glu7Lys p.E7K ENST00000392329 NM_001128928.1 7 Gag/Aag 0 -INPP5J UCSF GRCh37 22 31529913 31529913 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 19 133 0 ENST00000404390.3:c.1425C>T p.Ser475= p.S475= ENST00000404390 NM_001002837.1 475 tcC/tcT 0 -INTS1 UCSF GRCh37 7 1517564 1517564 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 10 5 24 0 ENST00000404767.3:c.4639G>A p.Gly1547Arg p.G1547R ENST00000404767 NM_001080453.2 1547 Ggg/Agg 0 -INTS12 UCSF GRCh37 4 106613132 106613132 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 12 121 0 ENST00000451321.2:c.657+1G>A p.X219_splice ENST00000451321 NM_001142471.1 0 -INTS3 UCSF GRCh37 1 153737438 153737438 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 272 43 324 0 ENST00000318967.2:c.1989G>A p.Gln663= p.Q663= ENST00000318967 NM_023015.3 663 caG/caA 0 -INTS6 UCSF GRCh37 13 51952403 51952403 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 6 65 0 ENST00000311234.4:c.1574C>T p.Thr525Ile p.T525I ENST00000311234 NM_012141.2 525 aCt/aTt 0 -INTS9 UCSF GRCh37 8 28635391 28635391 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 13 132 0 ENST00000521022.1:c.1350C>T p.Thr450= p.T450= ENST00000521022 NM_018250.3 450 acC/acT 0 -IPO13 UCSF GRCh37 1 44415262 44415262 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 217 25 291 0 ENST00000372343.3:c.258C>T p.Ile86= p.I86= ENST00000372343 NM_014652.3 86 atC/atT 0 -IQCG UCSF GRCh37 3 197665484 197665484 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 24 343 0 ENST00000265239.6:c.450C>T p.Val150= p.V150= ENST00000265239 NM_032263.3 150 gtC/gtT 0 -IQCH UCSF GRCh37 15 67713652 67713652 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 10 101 0 ENST00000335894.4:c.2242C>T p.Pro748Ser p.P748S ENST00000335894 NM_001031715.2 748 Cct/Tct 0 -IQGAP1 UCSF GRCh37 15 90997763 90997763 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 11 129 0 ENST00000268182.5:c.1591G>A p.Val531Met p.V531M ENST00000268182 NM_003870.3 531 Gtg/Atg 0 -IQGAP1 UCSF GRCh37 15 91035809 91035809 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 8 106 0 ENST00000268182.5:c.4494G>A p.Arg1498= p.R1498= ENST00000268182 NM_003870.3 1498 agG/agA 0 -IQGAP3 UCSF GRCh37 1 156524122 156524122 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 13 91 0 ENST00000361170.2:c.1353C>T p.Asn451= p.N451= ENST00000361170 NM_178229.4 451 aaC/aaT 0 -IQSEC2 UCSF GRCh37 X 53350028 53350028 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 57 170 0 ENST00000396435.3:c.294C>T p.His98= p.H98= ENST00000396435 NM_001111125.2 98 caC/caT 0 -IRAK2 UCSF GRCh37 3 10280464 10280464 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 18 171 0 ENST00000256458.4:c.1506G>A p.Arg502= p.R502= ENST00000256458 NM_001570.3 502 cgG/cgA 0 -IRF5 UCSF GRCh37 7 128587398 128587398 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 16 79 0 ENST00000357234.5:c.596C>T p.Thr199Ile p.T199I ENST00000357234 199 aCt/aTt 0 -IRS2 UCSF GRCh37 13 110436746 110436746 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 32 230 0 ENST00000375856.3:c.1655G>A p.Cys552Tyr p.C552Y ENST00000375856 NM_003749.2 552 tGt/tAt 0 -ISLR2 UCSF GRCh37 15 74425298 74425298 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 16 123 0 ENST00000361742.3:c.203G>A p.Arg68His p.R68H ENST00000361742 NM_001130136.1 68 cGc/cAc 0 -ISM1 UCSF GRCh37 20 13251391 13251391 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 175 26 249 0 ENST00000262487.4:c.378+1G>A p.X126_splice ENST00000262487 NM_080826.1 0 -ITFG1 UCSF GRCh37 16 47494809 47494809 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 144 25 172 0 ENST00000320640.6:c.148C>T p.Leu50Phe p.L50F ENST00000320640 NM_030790.3 50 Ctt/Ttt 0 -ITGA11 UCSF GRCh37 15 68612657 68612657 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 13 104 0 ENST00000315757.7:c.2482G>A p.Val828Ile p.V828I ENST00000315757 NM_001004439.1 828 Gtc/Atc 0 -ITGAL UCSF GRCh37 16 30492887 30492887 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 160 25 206 0 ENST00000356798.6:c.704G>A p.Gly235Asp p.G235D ENST00000356798 NM_002209.2 235 gGt/gAt 0 -ITGAL UCSF GRCh37 16 30532967 30532967 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 5 33 0 ENST00000356798.6:c.3494G>A p.Ser1165Asn p.S1165N ENST00000356798 NM_002209.2 1165 aGt/aAt 0 -ITGAX UCSF GRCh37 16 31382817 31382817 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 237 34 351 1 ENST00000268296.4:c.2004C>T p.Ser668= p.S668= ENST00000268296 NM_000887.3 668 agC/agT 0 -ITIH3 UCSF GRCh37 3 52836799 52836799 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 16 99 0 ENST00000449956.2:c.1686C>T p.Thr562= p.T562= ENST00000449956 NM_002217.3 562 acC/acT 0 -ITPKB UCSF GRCh37 1 226924158 226924158 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 183 27 191 0 ENST00000429204.1:c.1002G>A p.Glu334= p.E334= ENST00000429204 NM_002221.3 334 gaG/gaA 0 -ITPR1 UCSF GRCh37 3 4699885 4699885 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 235 43 347 1 ENST00000302640.8:c.1029G>A p.Val343= p.V343= ENST00000302640 NM_001168272.1 343 gtG/gtA 0 -ITPR2 UCSF GRCh37 12 26748513 26748513 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 5 95 0 ENST00000381340.3:c.4265C>T p.Ala1422Val p.A1422V ENST00000381340 NM_002223.2 1422 gCt/gTt 0 -ITPRIPL2 UCSF GRCh37 16 19126795 19126795 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 15 131 0 ENST00000381440.3:c.1012C>T p.Pro338Ser p.P338S ENST00000381440 NM_001034841.3 338 Cct/Tct 0 -ITSN1 UCSF GRCh37 21 35140087 35140087 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 17 192 0 ENST00000381318.3:c.997C>T p.Pro333Ser p.P333S ENST00000381318 NM_003024.2 333 Cca/Tca 0 -ITSN2 UCSF GRCh37 2 24432863 24432863 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 7 89 0 ENST00000355123.4:c.4297C>T p.Arg1433Trp p.R1433W ENST00000355123 NM_006277.2 1433 Cgg/Tgg 0 -ITSN2 UCSF GRCh37 2 24433813 24433813 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 4 42 0 ENST00000355123.4:c.4093C>T p.Leu1365= p.L1365= ENST00000355123 NM_006277.2 1365 Ctg/Ttg 0 -IWS1 UCSF GRCh37 2 128250901 128250901 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 12 102 0 ENST00000295321.4:c.1885C>T p.Pro629Ser p.P629S ENST00000295321 NM_017969.2 629 Cct/Tct 0 -JAG2 UCSF GRCh37 14 105609197 105609197 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 34 212 0 ENST00000331782.3:c.3552C>T p.Gly1184= p.G1184= ENST00000331782 NM_002226.4 1184 ggC/ggT 0 -JAKMIP1 UCSF GRCh37 4 6107536 6107536 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 33 244 0 ENST00000409021.3:c.288G>A p.Glu96= p.E96= ENST00000409021 NM_001099433.1 96 gaG/gaA 0 -JAM2 UCSF GRCh37 21 27078290 27078290 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 49 176 0 ENST00000400532.1:c.698-1G>A p.X233_splice ENST00000400532 NM_001270408.1 0 -JMJD7-PLA2G4B UCSF GRCh37 15 42139646 42139646 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 258 47 390 0 ENST00000382448.4:c.2752C>T p.Pro918Ser p.P918S ENST00000382448 918 Ccc/Tcc 0 -KALRN UCSF GRCh37 3 124303687 124303687 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 6 45 0 ENST00000291478.5:c.19G>A p.Ala7Thr p.A7T ENST00000291478 NM_007064.3 7 Gct/Act 0 -KATNAL1 UCSF GRCh37 13 30804647 30804647 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 17 175 0 ENST00000380615.3:c.970G>A p.Ala324Thr p.A324T ENST00000380615 NM_032116.4 324 Gca/Aca 0 -KAZN UCSF GRCh37 1 15287323 15287323 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 6 29 0 ENST00000376030.2:c.370C>T p.Leu124= p.L124= ENST00000376030 NM_201628.2 124 Ctg/Ttg 0 -KBTBD12 UCSF GRCh37 3 127642929 127642929 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 7 115 0 ENST00000405109.1:c.1025C>T p.Ala342Val p.A342V ENST00000405109 342 gCc/gTc 0 -KBTBD7 UCSF GRCh37 13 41768322 41768322 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 262 45 331 0 ENST00000379483.3:c.72G>A p.Arg24= p.R24= ENST00000379483 NM_032138.4 24 agG/agA 0 -KBTBD8 UCSF GRCh37 3 67058550 67058550 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 43 152 0 ENST00000417314.2:c.1547C>T p.Pro516Leu p.P516L ENST00000417314 516 cCa/cTa 0 -KCNA10 UCSF GRCh37 1 111060543 111060543 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 25 155 0 ENST00000369771.2:c.867G>A p.Arg289= p.R289= ENST00000369771 NM_005549.2 289 cgG/cgA 0 -KCNA4 UCSF GRCh37 11 30033372 30033372 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 28 202 0 ENST00000328224.6:c.854C>T p.Pro285Leu p.P285L ENST00000328224 NM_002233.3 285 cCc/cTc 0 -KCNAB1 UCSF GRCh37 3 156009754 156009754 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 18 218 0 ENST00000490337.1:c.276-129651C>T *92* ENST00000490337 NM_172160.2 0 -KCNH6 UCSF GRCh37 17 61615962 61615962 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 13 118 0 ENST00000583023.1:c.1893C>T p.Leu631= p.L631= ENST00000583023 NM_030779.3 631 ctC/ctT 0 -KCNH6 UCSF GRCh37 17 61613308 61613308 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 236 45 331 0 ENST00000583023.1:c.1380G>A p.Gln460= p.Q460= ENST00000583023 NM_030779.3 460 caG/caA 0 -KCNK16 UCSF GRCh37 6 39290301 39290301 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 4 28 0 ENST00000425054.2:c.16C>T p.Leu6Phe p.L6F ENST00000425054 NM_001135105.1 6 Ctc/Ttc 0 -KCNK4 UCSF GRCh37 11 64060554 64060554 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 13 66 0 ENST00000539216.1:c.64C>T p.Leu22= p.L22= ENST00000539216 22 Ctg/Ttg 0 -KCNK6 UCSF GRCh37 19 38817562 38817562 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 405 74 524 0 ENST00000263372.3:c.652G>A p.Gly218Ser p.G218S ENST00000263372 NM_004823.1 218 Ggc/Agc 0 -KCNN2 UCSF GRCh37 5 113740307 113740307 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 24 231 0 ENST00000512097.3:c.755C>T p.Ala252Val p.A252V ENST00000512097 252 gCt/gTt 0 -KCNQ4 UCSF GRCh37 1 41304096 41304096 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 373 58 483 0 ENST00000347132.5:c.1989C>T p.Asp663= p.D663= ENST00000347132 NM_004700.3 663 gaC/gaT 0 -KCNS2 UCSF GRCh37 8 99441166 99441166 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 27 227 0 ENST00000287042.4:c.959C>T p.Ala320Val p.A320V ENST00000287042 NM_020697.2 320 gCc/gTc 0 -KCNU1 UCSF GRCh37 8 36666241 36666241 + stop_gained Nonsense_Mutation SNP C C A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 50 179 0 ENST00000399881.3:c.662C>A p.Ser221Ter p.S221* ENST00000399881 NM_001031836.2 221 tCa/tAa 0 -KCTD18 UCSF GRCh37 2 201357981 201357981 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 25 215 0 ENST00000359878.3:c.678G>A p.Arg226= p.R226= ENST00000359878 NM_152387.2 226 cgG/cgA 0 -KCTD8 UCSF GRCh37 4 44449706 44449706 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 17 185 0 ENST00000360029.3:c.835G>A p.Ala279Thr p.A279T ENST00000360029 NM_198353.2 279 Gcc/Acc 0 -KCTD8 UCSF GRCh37 4 44449677 44449677 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 20 168 0 ENST00000360029.3:c.864C>T p.Phe288= p.F288= ENST00000360029 NM_198353.2 288 ttC/ttT 0 -KDELR1 UCSF GRCh37 19 48893746 48893746 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 15 166 0 ENST00000330720.2:c.127G>A p.Val43Met p.V43M ENST00000330720 NM_006801.2 43 Gtg/Atg 0 -KDELR3 UCSF GRCh37 22 38875687 38875687 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 68 245 0 ENST00000409006.3:c.282C>T p.Arg94= p.R94= ENST00000409006 NM_016657.2 94 cgC/cgT 0 -KDM1B UCSF GRCh37 6 18215319 18215319 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 11 74 1 ENST00000297792.5:c.1495C>T p.Gln499Ter p.Q499* ENST00000297792 499 Cag/Tag 0 -KDM2B UCSF GRCh37 12 122013723 122013723 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 49 156 0 ENST00000377071.4:c.313C>T p.Pro105Ser p.P105S ENST00000377071 NM_032590.4 105 Ccc/Tcc 0 -KDM3A UCSF GRCh37 2 86693750 86693750 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 190 29 258 0 ENST00000409556.1:c.1263G>A p.Lys421= p.K421= ENST00000409556 421 aaG/aaA 0 -KDM5B UCSF GRCh37 1 202715307 202715307 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 30 245 0 ENST00000367265.3:c.2161G>A p.Glu721Lys p.E721K ENST00000367265 NM_006618.3 721 Gaa/Aaa 0 -KDM5C UCSF GRCh37 X 53222430 53222430 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 25 143 0 ENST00000375401.3:c.4402G>A p.Glu1468Lys p.E1468K ENST00000375401 NM_004187.3 1468 Gag/Aag 0 -KIAA0247 UCSF GRCh37 14 70170146 70170146 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 12 82 0 ENST00000342745.4:c.156C>T p.Gly52= p.G52= ENST00000342745 NM_014734.3 52 ggC/ggT 0 -KIAA0284 UCSF GRCh37 14 105349562 105349562 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 13 143 0 ENST00000414716.3:c.768G>A p.Gly256= p.G256= ENST00000414716 NM_001112726.2 256 ggG/ggA 0 -KIAA0408 UCSF GRCh37 6 127767619 127767619 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 380 65 624 0 ENST00000483725.3:c.1845G>A p.Gln615= p.Q615= ENST00000483725 NM_014702.4 615 caG/caA 0 -KIAA0556 UCSF GRCh37 16 27763144 27763144 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 16 181 0 ENST00000261588.4:c.3451G>A p.Asp1151Asn p.D1151N ENST00000261588 NM_015202.2 1151 Gac/Aac 0 -KIAA0664 UCSF GRCh37 17 2607704 2607704 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 397 57 593 0 ENST00000570628.2:c.141C>T p.Gly47= p.G47= ENST00000570628 47 ggC/ggT 0 -KIAA0889 UCSF GRCh37 20 35422950 35422950 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 20 205 0 ENST00000237536.4:c.3535C>T p.Pro1179Ser p.P1179S ENST00000237536 NM_080627.2 1179 Cct/Tct 0 -KIAA0889 UCSF GRCh37 20 35422834 35422834 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 27 158 0 ENST00000237536.4:c.3651C>T p.Leu1217= p.L1217= ENST00000237536 NM_080627.2 1217 ctC/ctT 0 -KIAA1009 UCSF GRCh37 6 84862339 84862339 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 18 166 0 ENST00000403245.3:c.3554G>A p.Gly1185Glu p.G1185E ENST00000403245 NM_014895.2 1185 gGa/gAa 0 -KIAA1009 UCSF GRCh37 6 84836120 84836120 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 357 69 574 0 ENST00000403245.3:c.3982C>T p.Gln1328Ter p.Q1328* ENST00000403245 NM_014895.2 1328 Caa/Taa 0 -KIAA1033 UCSF GRCh37 12 105520060 105520060 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 14 139 0 ENST00000332180.5:c.958G>A p.Gly320Arg p.G320R ENST00000332180 NM_015275.1 320 Gga/Aga 0 -BLTP1 UCSF GRCh37 4 123160789 123160789 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 22 261 0 ENST00000264501.4:c.3952C>T p.Leu1318Phe p.L1318F ENST00000264501 1318 Ctt/Ttt 0 -BLTP1 UCSF GRCh37 4 123161284 123161284 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 246 42 417 0 ENST00000264501.4:c.4447G>A p.Glu1483Lys p.E1483K ENST00000264501 1483 Gaa/Aaa 0 -BLTP1 UCSF GRCh37 4 123185567 123185567 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 40 178 0 ENST00000264501.4:c.7302G>A p.Gln2434= p.Q2434= ENST00000264501 2434 caG/caA 0 -KIAA1217 UCSF GRCh37 10 24790376 24790376 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 15 123 0 ENST00000376454.3:c.1903C>T p.Pro635Ser p.P635S ENST00000376454 NM_019590.3 635 Cca/Tca 0 -KIAA1217 UCSF GRCh37 10 24833394 24833394 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 439 58 333 0 ENST00000376454.3:c.5195C>T p.Pro1732Leu p.P1732L ENST00000376454 NM_019590.3 1732 cCt/cTt 0 -KIAA1217 UCSF GRCh37 10 24809110 24809110 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 27 78 0 ENST00000376454.3:c.2236G>A p.Val746Ile p.V746I ENST00000376454 NM_019590.3 746 Gtt/Att 0 -KIAA1239 UCSF GRCh37 4 37440706 37440706 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 30 246 0 ENST00000309447.5:c.990C>T p.Tyr330= p.Y330= ENST00000309447 NM_001144990.1 330 taC/taT 0 -KIAA1239 UCSF GRCh37 4 37445900 37445900 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 21 197 0 ENST00000309447.5:c.2290C>T p.Leu764= p.L764= ENST00000309447 NM_001144990.1 764 Ctg/Ttg 0 -KIAA1239 UCSF GRCh37 4 37440478 37440478 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 16 138 0 ENST00000309447.5:c.762G>A p.Lys254= p.K254= ENST00000309447 NM_001144990.1 254 aaG/aaA 0 -KIAA1244 UCSF GRCh37 6 138576629 138576629 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 309 50 474 0 ENST00000251691.4:c.827C>T p.Thr276Ile p.T276I ENST00000251691 NM_020340.4 276 aCc/aTc 0 -KIAA1274 UCSF GRCh37 10 72285826 72285826 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 14 89 0 ENST00000263563.6:c.119G>A p.Ser40Asn p.S40N ENST00000263563 NM_014431.2 40 aGc/aAc 0 -KIAA1383 UCSF GRCh37 1 232943021 232943021 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 17 256 0 ENST00000418460.1:c.2252G>A p.Arg751Lys p.R751K ENST00000418460 NM_019090.2 751 aGa/aAa 0 -KIAA1432 UCSF GRCh37 9 5772967 5772967 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 15 151 0 ENST00000414202.2:c.3870C>T p.Ser1290= p.S1290= ENST00000414202 NM_001206557.1 1290 tcC/tcT 0 -KIAA1522 UCSF GRCh37 1 33207765 33207765 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 3 23 0 ENST00000401073.2:c.210C>T p.Ala70= p.A70= ENST00000401073 NM_020888.2 70 gcC/gcT 0 -KIAA1671 UCSF GRCh37 22 25581079 25581079 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 8 58 0 ENST00000358431.3:c.5335G>A p.Asp1779Asn p.D1779N ENST00000358431 NM_001145206.1 1779 Gat/Aat 0 -KIAA1683 UCSF GRCh37 19 18376086 18376086 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 24 123 0 ENST00000392413.4:c.2264G>A p.Cys755Tyr p.C755Y ENST00000392413 NM_001145304.1 755 tGc/tAc 0 -KIAA1731 UCSF GRCh37 11 93402014 93402014 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 8 57 0 ENST00000325212.6:c.350G>A p.Arg117Lys p.R117K ENST00000325212 117 aGg/aAg 0 -KIAA1797 UCSF GRCh37 9 20789539 20789539 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 6 109 0 ENST00000380249.1:c.1387G>A p.Asp463Asn p.D463N ENST00000380249 NM_017794.3 463 Gac/Aac 0 -KIAA1797 UCSF GRCh37 9 20720401 20720401 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 17 166 0 ENST00000380249.1:c.155G>A p.Trp52Ter p.W52* ENST00000380249 NM_017794.3 52 tGg/tAg 0 -KIAA1984 UCSF GRCh37 9 139694861 139694861 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 196 27 292 0 ENST00000338005.6:c.459C>T p.Asn153= p.N153= ENST00000338005 NM_001039374.4 153 aaC/aaT 0 -KIAA2026 UCSF GRCh37 9 6007765 6007765 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 49 124 0 ENST00000399933.3:c.23G>A p.Gly8Glu p.G8E ENST00000399933 NM_001017969.2 8 gGa/gAa 0 -KIF13A UCSF GRCh37 6 17785781 17785781 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 204 34 326 0 ENST00000259711.6:c.3453C>T p.Ala1151= p.A1151= ENST00000259711 NM_022113.5 1151 gcC/gcT 0 -KIF14 UCSF GRCh37 1 200559261 200559261 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 12 98 0 ENST00000367350.4:c.2953G>A p.Ala985Thr p.A985T ENST00000367350 NM_014875.2 985 Gca/Aca 0 -KIF16B UCSF GRCh37 20 16359469 16359469 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 43 0 ENST00000408042.1:c.3178C>T p.Leu1060= p.L1060= ENST00000408042 NM_001199866.1 1060 Ctg/Ttg 0 -KIF18B UCSF GRCh37 17 43011932 43011932 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 62 223 0 ENST00000593135.1:c.630C>T p.Arg210= p.R210= ENST00000593135 NM_001265577.1 210 cgC/cgT 0 -KIF1A UCSF GRCh37 2 241660422 241660422 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 12 98 0 ENST00000498729.2:c.4777C>T p.Pro1593Ser p.P1593S ENST00000498729 NM_001244008.1 1593 Ccg/Tcg 0 -KIF1A UCSF GRCh37 2 241685214 241685214 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 67 0 ENST00000498729.2:c.3315G>A p.Val1105= p.V1105= ENST00000498729 NM_001244008.1 1105 gtG/gtA 0 -KIF20B UCSF GRCh37 10 91478491 91478491 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 24 290 0 ENST00000260753.4:c.1296G>A p.Arg432= p.R432= ENST00000260753 NM_016195.2 432 cgG/cgA 0 -KIF21B UCSF GRCh37 1 200978397 200978397 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 23 122 0 ENST00000422435.2:c.261G>A p.Gly87= p.G87= ENST00000422435 NM_001252100.1 87 ggG/ggA 0 -KIF26A UCSF GRCh37 14 104640048 104640048 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 6 38 0 ENST00000423312.2:c.1873G>A p.Gly625Arg p.G625R ENST00000423312 NM_015656.1 625 Gga/Aga 0 -KIRREL UCSF GRCh37 1 158064889 158064889 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 287 53 329 0 ENST00000359209.6:c.2253G>A p.Gln751= p.Q751= ENST00000359209 751 caG/caA 0 -KLF1 UCSF GRCh37 19 12997911 12997911 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 8 56 0 ENST00000264834.4:c.44C>T p.Thr15Ile p.T15I ENST00000264834 NM_006563.3 15 aCc/aTc 0 -KLF16 UCSF GRCh37 19 1863116 1863116 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 3 51 0 ENST00000250916.4:c.381C>T p.His127= p.H127= ENST00000250916 NM_031918.3 127 caC/caT 0 -KLF9 UCSF GRCh37 9 73002854 73002854 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 14 105 0 ENST00000377126.2:c.573C>T p.Thr191= p.T191= ENST00000377126 NM_001206.2 191 acC/acT 0 -KLHDC7A UCSF GRCh37 1 18807887 18807887 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 16 137 0 ENST00000400664.1:c.412C>T p.Pro138Ser p.P138S ENST00000400664 NM_152375.2 138 Cct/Tct 0 -KLHDC9 UCSF GRCh37 1 161068684 161068684 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 13 121 0 ENST00000368011.4:c.359G>A p.Trp120Ter p.W120* ENST00000368011 NM_152366.4 120 tGg/tAg 0 -KLHL1 UCSF GRCh37 13 70293505 70293505 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 16 160 0 ENST00000377844.4:c.2011G>A p.Glu671Lys p.E671K ENST00000377844 NM_020866.2 671 Gaa/Aaa 0 -KLHL15 UCSF GRCh37 X 24006440 24006440 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 161 63 247 0 ENST00000328046.8:c.1413G>A p.Lys471= p.K471= ENST00000328046 NM_030624.2 471 aaG/aaA 0 -KLHL29 UCSF GRCh37 2 23919339 23919339 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 5 54 0 ENST00000486442.1:c.2061C>T p.Thr687= p.T687= ENST00000486442 NM_052920.1 687 acC/acT 0 -KLHL30 UCSF GRCh37 2 239057685 239057685 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 57 169 0 ENST00000409223.1:c.1377G>A p.Lys459= p.K459= ENST00000409223 459 aaG/aaA 0 -KLHL4 UCSF GRCh37 X 86921482 86921482 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 13 4 34 0 ENST00000373114.4:c.2097+1547C>T *699* ENST00000373114 NM_057162.2 0 -KLK14 UCSF GRCh37 19 51581312 51581312 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 16 141 0 ENST00000391802.1:c.756C>T p.Asn252= p.N252= ENST00000391802 NM_022046.4 252 aaC/aaT 0 -KLK9 UCSF GRCh37 19 51509714 51509714 + missense_variant,splice_region_variant,NMD_transcript_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 24 0 ENST00000250366.6:c.466G>A p.Ala156Thr p.A156T ENST00000250366 NM_012315.1 156 Gcg/Acg 0 -KLRAQ1 UCSF GRCh37 2 48737178 48737178 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 13 108 0 ENST00000294952.8:c.2110G>A p.Ala704Thr p.A704T ENST00000294952 NM_001135629.2 704 Gcc/Acc 0 -KNTC1 UCSF GRCh37 12 123099634 123099634 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 45 321 0 ENST00000333479.7:c.5973+1G>A p.X1991_splice ENST00000333479 NM_014708.4 0 -KPNB1 UCSF GRCh37 17 45755444 45755444 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 177 28 227 0 ENST00000290158.4:c.2136G>A p.Gln712= p.Q712= ENST00000290158 NM_002265.5 712 caG/caA 0 -KRBA1 UCSF GRCh37 7 149422489 149422489 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 24 189 0 ENST00000255992.10:c.1210C>T p.Leu404= p.L404= ENST00000255992 NM_032534.2 404 Ctg/Ttg 0 -KREMEN2 UCSF GRCh37 16 3017392 3017392 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 7 28 0 ENST00000303746.5:c.1045G>A p.Gly349Arg p.G349R ENST00000303746 349 Ggg/Agg 0 -KREMEN2 UCSF GRCh37 16 3017388 3017388 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 3 24 0 ENST00000303746.5:c.1041C>T p.Leu347= p.L347= ENST00000303746 347 ctC/ctT 0 -KRT26 UCSF GRCh37 17 38928333 38928333 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 22 194 0 ENST00000335552.4:c.33G>A p.Arg11= p.R11= ENST00000335552 NM_181539.4 11 agG/agA 0 -KRT36 UCSF GRCh37 17 39642793 39642793 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 4 36 0 ENST00000328119.6:c.1239C>T p.Cys413= p.C413= ENST00000328119 NM_003771.4 413 tgC/tgT 0 -KRT38 UCSF GRCh37 17 39596854 39596854 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 21 231 0 ENST00000246646.3:c.320C>T p.Thr107Ile p.T107I ENST00000246646 NM_006771.3 107 aCc/aTc 0 -KRT74 UCSF GRCh37 12 52967372 52967372 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 23 136 0 ENST00000305620.2:c.190G>A p.Ala64Thr p.A64T ENST00000305620 NM_175053.3 64 Gct/Act 0 -KRT76 UCSF GRCh37 12 53165733 53165733 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 23 232 0 ENST00000332411.2:c.1185G>A p.Arg395= p.R395= ENST00000332411 NM_015848.4 395 agG/agA 0 -KRT84 UCSF GRCh37 12 52771896 52771896 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 4 38 1 ENST00000257951.3:c.1725C>T p.Gly575= p.G575= ENST00000257951 NM_033045.3 575 ggC/ggT 0 -KRTAP13-2 UCSF GRCh37 21 31744248 31744248 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 22 212 0 ENST00000399889.2:c.284C>T p.Thr95Ile p.T95I ENST00000399889 NM_181621.3 95 aCt/aTt 0 -KRTAP4-11 UCSF GRCh37 17 39274332 39274332 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 11 23 0 ENST00000391413.2:c.236G>A p.Cys79Tyr p.C79Y ENST00000391413 NM_033059.3 79 tGc/tAc 0 -KY UCSF GRCh37 3 134369669 134369669 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 12 101 0 ENST00000423778.2:c.134G>A p.Gly45Glu p.G45E ENST00000423778 NM_178554.4 45 gGa/gAa 0 -L3MBTL1 UCSF GRCh37 20 42169455 42169455 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 237 42 336 0 ENST00000427442.2:c.2328G>A p.Glu776= p.E776= ENST00000427442 776 gaG/gaA 0 -L3MBTL3 UCSF GRCh37 6 130370449 130370449 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 242 31 350 0 ENST00000529410.1:c.125C>T p.Ala42Val p.A42V ENST00000529410 42 gCc/gTc 0 -LAMA3 UCSF GRCh37 18 21481116 21481116 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 5 32 0 ENST00000313654.9:c.6030G>A p.Gln2010= p.Q2010= ENST00000313654 NM_198129.1 2010 caG/caA 0 -LAMA4 UCSF GRCh37 6 112438987 112438987 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 8 99 0 ENST00000230538.7:c.4936G>A p.Glu1646Lys p.E1646K ENST00000230538 NM_001105206.2 1646 Gaa/Aaa 0 -LAMB1 UCSF GRCh37 7 107603473 107603473 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 7 90 0 ENST00000222399.6:c.1734C>T p.Asp578= p.D578= ENST00000222399 NM_002291.2 578 gaC/gaT 0 -LAMB2 UCSF GRCh37 3 49161261 49161261 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 24 198 0 ENST00000418109.1:c.3697C>T p.His1233Tyr p.H1233Y ENST00000418109 NM_002292.3 1233 Cac/Tac 0 -LAMB4 UCSF GRCh37 7 107704388 107704388 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 10 77 0 ENST00000388781.3:c.2879C>T p.Pro960Leu p.P960L ENST00000388781 NM_007356.2 960 cCa/cTa 0 -LAMC2 UCSF GRCh37 1 183197619 183197619 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 16 144 0 ENST00000264144.4:c.1579G>A p.Ala527Thr p.A527T ENST00000264144 NM_005562.2 527 Gcc/Acc 0 -LAMP3 UCSF GRCh37 3 182871876 182871876 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 11 91 0 ENST00000265598.3:c.353C>T p.Pro118Leu p.P118L ENST00000265598 NM_014398.3 118 cCt/cTt 0 -LARGE UCSF GRCh37 22 33712154 33712154 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 3 32 0 ENST00000354992.2:c.1368C>T p.Thr456= p.T456= ENST00000354992 NM_004737.4 456 acC/acT 0 -LARS2 UCSF GRCh37 3 45436039 45436039 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 6 58 0 ENST00000415258.1:c.94G>A p.Val32Ile p.V32I ENST00000415258 32 Gta/Ata 0 -LAT UCSF GRCh37 16 28997983 28997983 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 94 223 0 ENST00000395461.3:c.454G>A p.Ala152Thr p.A152T ENST00000395461 NM_001014989.1 152 Gcc/Acc 0 -LATS1 UCSF GRCh37 6 150004816 150004816 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 28 194 0 ENST00000253339.5:c.1409G>A p.Gly470Glu p.G470E ENST00000253339 470 gGa/gAa 0 -LATS2 UCSF GRCh37 13 21563229 21563229 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 10 87 0 ENST00000382592.4:c.690C>T p.His230= p.H230= ENST00000382592 NM_014572.2 230 caC/caT 0 -LBR UCSF GRCh37 1 225600175 225600175 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 4 30 0 ENST00000338179.2:c.1065C>T p.Asp355= p.D355= ENST00000338179 NM_194442.2 355 gaC/gaT 0 -LCA5L UCSF GRCh37 21 40778481 40778481 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 214 31 364 0 ENST00000358268.2:c.1340G>A p.Arg447Lys p.R447K ENST00000358268 447 aGa/aAa 0 -LCK UCSF GRCh37 1 32751172 32751172 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 4 32 0 ENST00000336890.5:c.1385C>T p.Pro462Leu p.P462L ENST00000336890 NM_005356.3 462 cCt/cTt 0 -LCMT2 UCSF GRCh37 15 43621541 43621541 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 288 57 428 0 ENST00000305641.5:c.1147C>T p.His383Tyr p.H383Y ENST00000305641 NM_014793.4 383 Cac/Tac 0 -LENG8 UCSF GRCh37 19 54966627 54966627 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 12 47 0 ENST00000326764.5:c.906C>T p.Thr302= p.T302= ENST00000326764 NM_052925.2 302 acC/acT 0 -LEPREL1 UCSF GRCh37 3 189688682 189688682 + splice_acceptor_variant Splice_Site SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 40 134 0 ENST00000319332.5:c.1818-2A>G p.X606_splice ENST00000319332 NM_018192.3 0 -LEPREL1 UCSF GRCh37 3 189713109 189713109 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 7 40 0 ENST00000319332.5:c.603G>A p.Gln201= p.Q201= ENST00000319332 NM_018192.3 201 caG/caA 0 -LEPREL2 UCSF GRCh37 12 6937907 6937907 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 5 22 0 ENST00000396725.2:c.302C>T p.Ser101Phe p.S101F ENST00000396725 101 tCc/tTc 0 -LEPREL4 UCSF GRCh37 17 39968144 39968144 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 19 137 0 ENST00000355468.3:c.24G>A p.Leu8= p.L8= ENST00000355468 8 ctG/ctA 0 -LGALS12 UCSF GRCh37 11 63276249 63276249 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 217 37 284 0 ENST00000340246.5:c.227G>A p.Arg76Lys p.R76K ENST00000340246 76 aGg/aAg 0 -LGALS2 UCSF GRCh37 22 37966674 37966674 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 22 246 0 ENST00000215886.4:c.158C>T p.Ser53Phe p.S53F ENST00000215886 NM_006498.2 53 tCc/tTc 0 -LGALS3BP UCSF GRCh37 17 76969137 76969137 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 25 218 0 ENST00000262776.3:c.544G>A p.Ala182Thr p.A182T ENST00000262776 NM_005567.3 182 Gcc/Acc 0 -LGALS3BP UCSF GRCh37 17 76968372 76968372 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 27 213 0 ENST00000262776.3:c.1044C>T p.Phe348= p.F348= ENST00000262776 NM_005567.3 348 ttC/ttT 0 -LGALS8 UCSF GRCh37 1 236706260 236706260 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 27 264 0 ENST00000526589.1:c.595G>A p.Val199Ile p.V199I ENST00000526589 199 Gtc/Atc 0 -LGR5 UCSF GRCh37 12 71977498 71977498 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 394 71 546 0 ENST00000266674.5:c.1708C>T p.Leu570= p.L570= ENST00000266674 NM_001277226.1 570 Ctg/Ttg 0 -LGSN UCSF GRCh37 6 63990557 63990557 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 23 243 0 ENST00000370657.4:c.899C>T p.Ala300Val p.A300V ENST00000370657 300 gCc/gTc 0 -LHCGR UCSF GRCh37 2 48958435 48958435 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 14 156 0 ENST00000294954.7:c.164C>T p.Ser55Leu p.S55L ENST00000294954 NM_000233.3 55 tCa/tTa 0 -LHX8 UCSF GRCh37 1 75602876 75602876 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 263 44 359 0 ENST00000294638.5:c.197C>T p.Ser66Phe p.S66F ENST00000294638 NM_001001933.1 66 tCc/tTc 0 -LIFR UCSF GRCh37 5 38481941 38481941 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 194 27 292 0 ENST00000263409.4:c.3050C>T p.Ala1017Val p.A1017V ENST00000263409 NM_002310.5 1017 gCt/gTt 0 -LILRB2 UCSF GRCh37 19 54781751 54781751 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 9 82 0 ENST00000391749.4:c.1301C>T p.Ser434Phe p.S434F ENST00000391749 NM_001278406.1 434 tCc/tTc 0 -LIMA1 UCSF GRCh37 12 50616006 50616006 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 59 148 0 ENST00000394943.3:c.428C>T p.Pro143Leu p.P143L ENST00000394943 143 cCc/cTc 0 -LIMK1 UCSF GRCh37 7 73513509 73513509 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 21 206 0 ENST00000336180.2:c.549C>T p.Asp183= p.D183= ENST00000336180 NM_002314.3 183 gaC/gaT 0 -LIMS2 UCSF GRCh37 2 128400530 128400530 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 5 49 0 ENST00000324938.5:c.549C>T p.Tyr183= p.Y183= ENST00000324938 NM_017980.4 183 taC/taT 0 -LIN7C UCSF GRCh37 11 27520323 27520323 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 15 143 0 ENST00000278193.2:c.467C>T p.Ala156Val p.A156V ENST00000278193 NM_018362.3 156 gCt/gTt 0 -LLGL2 UCSF GRCh37 17 73567161 73567161 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 17 186 0 ENST00000392550.3:c.2156C>T p.Ala719Val p.A719V ENST00000392550 NM_001031803.1 719 gCt/gTt 0 -LMO7 UCSF GRCh37 13 76395518 76395518 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 28 248 0 ENST00000465261.2:c.1714G>A p.Val572Ile p.V572I ENST00000465261 NM_015842.2 572 Gta/Ata 0 -LMOD1 UCSF GRCh37 1 201868704 201868704 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 235 46 390 0 ENST00000367288.4:c.1437G>A p.Leu479= p.L479= ENST00000367288 NM_012134.2 479 ctG/ctA 0 -LMTK2 UCSF GRCh37 7 97821000 97821000 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 15 95 0 ENST00000297293.5:c.1223C>T p.Thr408Ile p.T408I ENST00000297293 NM_014916.3 408 aCt/aTt 0 -LONP2 UCSF GRCh37 16 48385588 48385588 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 8 65 0 ENST00000285737.4:c.2434C>T p.Pro812Ser p.P812S ENST00000285737 NM_031490.2 812 Cca/Tca 0 -LOX UCSF GRCh37 5 121409721 121409721 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 13 158 0 ENST00000231004.4:c.1022C>T p.Thr341Ile p.T341I ENST00000231004 NM_002317.5 341 aCt/aTt 0 -LOXHD1 UCSF GRCh37 18 44057582 44057582 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 24 164 0 ENST00000300591.6:c.3307+35C>T *1103* ENST00000300591 NM_001145472.2 0 -LPAR4 UCSF GRCh37 X 78010399 78010399 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 25 103 0 ENST00000435339.3:c.33C>T p.Phe11= p.F11= ENST00000435339 NM_005296.2 11 ttC/ttT 0 -LPHN3 UCSF GRCh37 4 62679599 62679599 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 231 33 352 0 ENST00000514591.1:c.1268C>T p.Ser423Phe p.S423F ENST00000514591 423 tCt/tTt 0 -LPIN3 UCSF GRCh37 20 39980780 39980780 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 24 226 0 ENST00000373257.3:c.1283C>T p.Pro428Leu p.P428L ENST00000373257 NM_022896.1 428 cCt/cTt 0 -LPO UCSF GRCh37 17 56343536 56343536 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 28 158 0 ENST00000262290.4:c.1542G>A p.Arg514= p.R514= ENST00000262290 NM_006151.2 514 cgG/cgA 0 -LPP UCSF GRCh37 3 188426154 188426154 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 194 32 263 0 ENST00000312675.4:c.1213G>A p.Glu405Lys p.E405K ENST00000312675 NM_005578.3 405 Gaa/Aaa 0 -LPPR3 UCSF GRCh37 19 815058 815058 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 9 83 0 ENST00000359894.2:c.427G>A p.Ala143Thr p.A143T ENST00000359894 NM_024888.2 143 Gcc/Acc 0 -LRBA UCSF GRCh37 4 151849989 151849989 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 19 265 0 ENST00000357115.3:c.445G>A p.Ala149Thr p.A149T ENST00000357115 NM_006726.4 149 Gca/Aca 0 -LRIG2 UCSF GRCh37 1 113616265 113616265 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 19 120 0 ENST00000361127.5:c.237C>T p.Ile79= p.I79= ENST00000361127 NM_014813.1 79 atC/atT 0 -LRP1 UCSF GRCh37 12 57594524 57594524 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 12 135 0 ENST00000243077.3:c.10151G>A p.Gly3384Asp p.G3384D ENST00000243077 NM_002332.2 3384 gGt/gAt 0 -LRP1 UCSF GRCh37 12 57539009 57539009 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 291 63 352 0 ENST00000243077.3:c.578-1G>A p.X193_splice ENST00000243077 NM_002332.2 0 -LRP10 UCSF GRCh37 14 23346348 23346348 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 25 182 0 ENST00000359591.4:c.1754C>T p.Ser585Phe p.S585F ENST00000359591 NM_014045.3 585 tCt/tTt 0 -LRP10 UCSF GRCh37 14 23345910 23345910 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 171 21 209 0 ENST00000359591.4:c.1437C>T p.Pro479= p.P479= ENST00000359591 NM_014045.3 479 ccC/ccT 0 -LRP10 UCSF GRCh37 14 23344297 23344297 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 473 284 799 0 ENST00000359591.4:c.249G>A p.Glu83= p.E83= ENST00000359591 NM_014045.3 83 gaG/gaA 0 -LRP12 UCSF GRCh37 8 105503379 105503379 + missense_variant Missense_Mutation SNP C C T 1000g2011may_all_0.0014 P24_Rec2 Untested WXS Illumina HiSeq 115 29 150 0 ENST00000276654.5:c.2102G>A p.Arg701Gln p.R701Q ENST00000276654 NM_013437.4 701 cGa/cAa 0 -LRP6 UCSF GRCh37 12 12419625 12419625 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 177 26 208 0 ENST00000261349.4:c.45G>A p.Val15= p.V15= ENST00000261349 NM_002336.2 15 gtG/gtA 0 -LRRC14B UCSF GRCh37 5 195220 195220 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 4 44 0 ENST00000328278.3:c.1297G>A p.Gly433Ser p.G433S ENST00000328278 NM_001080478.1 433 Ggt/Agt 0 -LRRC16B UCSF GRCh37 14 24531989 24531989 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 11 97 0 ENST00000342740.5:c.2640C>T p.Ser880= p.S880= ENST00000342740 NM_138360.3 880 tcC/tcT 0 -LRRC33 UCSF GRCh37 3 196387682 196387682 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 186 31 265 0 ENST00000328557.4:c.1168G>A p.Glu390Lys p.E390K ENST00000328557 NM_198565.1 390 Gag/Aag 0 -LRRC33 UCSF GRCh37 3 196386848 196386848 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 14 127 0 ENST00000328557.4:c.334C>T p.Leu112= p.L112= ENST00000328557 NM_198565.1 112 Ctg/Ttg 0 -LRRC43 UCSF GRCh37 12 122675926 122675926 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 8 66 0 ENST00000339777.4:c.902-1G>A p.X301_splice ENST00000339777 NM_152759.4 0 -LRRC4B UCSF GRCh37 19 51021391 51021391 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 29 197 0 ENST00000599957.1:c.1579C>T p.Pro527Ser p.P527S ENST00000599957 527 Cct/Tct 0 -LRRC4C UCSF GRCh37 11 40137452 40137452 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 91 320 0 ENST00000278198.2:c.391C>T p.Leu131Phe p.L131F ENST00000278198 131 Ctc/Ttc 0 -LRRC61 UCSF GRCh37 7 150034302 150034302 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 289 40 253 0 ENST00000359623.4:c.352C>T p.Leu118= p.L118= ENST00000359623 NM_001142928.1 118 Ctg/Ttg 0 -LRRC8A UCSF GRCh37 9 131669632 131669632 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 210 42 312 0 ENST00000259324.5:c.189C>T p.Asp63= p.D63= ENST00000259324 NM_001127244.1 63 gaC/gaT 0 -LRRC8B UCSF GRCh37 1 90049588 90049588 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 40 330 0 ENST00000330947.2:c.1379C>T p.Ser460Leu p.S460L ENST00000330947 NM_001134476.1 460 tCa/tTa 0 -LRRC8B UCSF GRCh37 1 90049725 90049725 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 23 169 0 ENST00000330947.2:c.1516G>A p.Val506Ile p.V506I ENST00000330947 NM_001134476.1 506 Gta/Ata 0 -LRRC8B UCSF GRCh37 1 90050269 90050269 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 323 64 526 0 ENST00000330947.2:c.2060G>A p.Ser687Asn p.S687N ENST00000330947 NM_001134476.1 687 aGc/aAc 0 -LRRC8E UCSF GRCh37 19 7963609 7963609 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 272 32 261 0 ENST00000306708.6:c.202C>T p.Pro68Ser p.P68S ENST00000306708 NM_025061.4 68 Ccg/Tcg 0 -LRRFIP1 UCSF GRCh37 2 238683017 238683017 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 9 49 0 ENST00000308482.9:c.1724G>A p.Ser575Asn p.S575N ENST00000308482 NM_001137550.1 575 aGt/aAt 0 -LRRN4 UCSF GRCh37 20 6031501 6031501 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 7 103 0 ENST00000378858.4:c.784G>A p.Asp262Asn p.D262N ENST00000378858 NM_152611.4 262 Gac/Aac 0 -LRWD1 UCSF GRCh37 7 102110255 102110255 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 261 46 313 0 ENST00000292616.5:c.1368C>T p.Asp456= p.D456= ENST00000292616 NM_152892.1 456 gaC/gaT 0 -LTA UCSF GRCh37 6 31541433 31541433 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 38 278 0 ENST00000454783.1:c.581G>A p.Ser194Asn p.S194N ENST00000454783 NM_001159740.2 194 aGc/aAc 0 -LTBP1 UCSF GRCh37 2 33590523 33590523 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 4 32 0 ENST00000404816.2:c.4664G>A p.Gly1555Glu p.G1555E ENST00000404816 1555 gGa/gAa 0 -LTBP4 UCSF GRCh37 19 41128865 41128865 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 70 191 0 ENST00000308370.7:c.3693G>A p.Gln1231= p.Q1231= ENST00000308370 NM_001042544.1 1231 caG/caA 0 -LUZP1 UCSF GRCh37 1 23418977 23418977 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 305 48 390 0 ENST00000302291.4:c.1778G>A p.Ser593Asn p.S593N ENST00000302291 593 aGt/aAt 0 -LY6G6F UCSF GRCh37 6 31675669 31675669 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 19 143 0 ENST00000375832.4:c.404C>T p.Ala135Val p.A135V ENST00000375832 NM_001003693.1 135 gCt/gTt 0 -LYG2 UCSF GRCh37 2 99860569 99860569 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 15 130 0 ENST00000333017.2:c.413C>T p.Ala138Val p.A138V ENST00000333017 NM_175735.3 138 gCc/gTc 0 -LYL1 UCSF GRCh37 19 13211472 13211472 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 737 87 717 0 ENST00000264824.4:c.426G>A p.Glu142= p.E142= ENST00000264824 NM_005583.4 142 gaG/gaA 0 -MAB21L2 UCSF GRCh37 4 151504418 151504418 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 20 186 0 ENST00000317605.4:c.237C>T p.Tyr79= p.Y79= ENST00000317605 NM_006439.4 79 taC/taT 0 -MACF1 UCSF GRCh37 1 39846008 39846008 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 8 87 0 ENST00000545844.1:c.7425G>A p.Gln2475= p.Q2475= ENST00000545844 2475 caG/caA 0 -MAEL UCSF GRCh37 1 166973532 166973532 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 11 101 0 ENST00000367872.4:c.639C>T p.Ile213= p.I213= ENST00000367872 NM_032858.1 213 atC/atT 0 -MAGED1 UCSF GRCh37 X 51640158 51640158 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 11 144 0 ENST00000375695.2:c.1575C>T p.Ala525= p.A525= ENST00000375695 NM_001005333.1 525 gcC/gcT 0 -MAGEF1 UCSF GRCh37 3 184429328 184429328 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 584 91 780 0 ENST00000317897.3:c.282G>A p.Lys94= p.K94= ENST00000317897 NM_022149.4 94 aaG/aaA 0 -MAGEL2 UCSF GRCh37 15 23889682 23889682 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 203 27 277 0 ENST00000532292.1:c.1399G>A p.Glu467Lys p.E467K ENST00000532292 NM_019066.4 467 Gag/Aag 0 -MAGEL2 UCSF GRCh37 15 23890315 23890315 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 33 215 0 ENST00000532292.1:c.766G>A p.Ala256Thr p.A256T ENST00000532292 NM_019066.4 256 Gca/Aca 0 -MAK16 UCSF GRCh37 8 33354807 33354807 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 13 89 0 ENST00000360128.6:c.697G>A p.Asp233Asn p.D233N ENST00000360128 NM_032509.3 233 Gat/Aat 0 -MAOB UCSF GRCh37 X 43655077 43655077 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 27 165 0 ENST00000378069.4:c.677G>A p.Gly226Glu p.G226E ENST00000378069 NM_000898.4 226 gGa/gAa 0 -MAP1A UCSF GRCh37 15 43818123 43818123 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 12 120 0 ENST00000300231.5:c.4452C>T p.Val1484= p.V1484= ENST00000300231 1484 gtC/gtT 0 -MAP2 UCSF GRCh37 2 210560342 210560342 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 82 238 0 ENST00000360351.4:c.3448G>A p.Gly1150Ser p.G1150S ENST00000360351 NM_002374.3 1150 Ggc/Agc 0 -MAP2K1 UCSF GRCh37 15 66727510 66727510 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 12 90 0 ENST00000307102.5:c.226G>A p.Ala76Thr p.A76T ENST00000307102 NM_002755.3 76 Gct/Act 0 -MAP2K1 UCSF GRCh37 15 66782084 66782084 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 273 58 396 0 ENST00000307102.5:c.1051G>A p.Asp351Asn p.D351N ENST00000307102 NM_002755.3 351 Gat/Aat 0 -MAP3K5 UCSF GRCh37 6 136926391 136926391 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 19 45 0 ENST00000359015.4:c.2635C>T p.Pro879Ser p.P879S ENST00000359015 NM_005923.3 879 Ccc/Tcc 0 -MAP3K6 UCSF GRCh37 1 27684060 27684060 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 21 196 0 ENST00000493901.1:c.3089G>A p.Arg1030His p.R1030H ENST00000493901 NM_004672.3 1030 cGt/cAt 0 -MAP3K6 UCSF GRCh37 1 27685280 27685280 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 24 124 0 ENST00000493901.1:c.2503C>T p.Leu835= p.L835= ENST00000493901 NM_004672.3 835 Ctg/Ttg 0 -MAP3K7 UCSF GRCh37 6 91226378 91226378 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 14 117 0 ENST00000369329.3:c.1663G>A p.Asp555Asn p.D555N ENST00000369329 NM_145331.2 555 Gac/Aac 0 -MAP4K3 UCSF GRCh37 2 39487780 39487780 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 18 180 0 ENST00000263881.3:c.2275C>T p.Pro759Ser p.P759S ENST00000263881 NM_003618.3 759 Cca/Tca 0 -MAP7D1 UCSF GRCh37 1 36643628 36643628 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 22 142 0 ENST00000373151.2:c.1534G>A p.Glu512Lys p.E512K ENST00000373151 NM_018067.3 512 Gag/Aag 0 -MAPK11 UCSF GRCh37 22 50705860 50705860 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 3 53 0 ENST00000330651.6:c.357C>T p.Cys119= p.C119= ENST00000330651 NM_002751.5 119 tgC/tgT 0 -MAPK8IP3 UCSF GRCh37 16 1816017 1816017 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 13 137 0 ENST00000250894.4:c.2500C>T p.Pro834Ser p.P834S ENST00000250894 NM_015133.3 834 Cca/Tca 0 -MAPKAP1 UCSF GRCh37 9 128434850 128434850 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 12 83 0 ENST00000265960.3:c.4G>A p.Ala2Thr p.A2T ENST00000265960 NM_001006617.1 2 Gcc/Acc 0 -MARK4 UCSF GRCh37 19 45769492 45769492 + missense_variant Missense_Mutation SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 46 207 0 ENST00000262891.4:c.502G>T p.Ala168Ser p.A168S ENST00000262891 NM_001199867.1 168 Gct/Tct 0 -MARS UCSF GRCh37 12 57882776 57882802 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TAACCCATTTTCCATTCTTGCATCAGA TAACCCATTTTCCATTCTTGCATCAGA AACCCATTTTCCCTTCTTGCCTCAGT NOVEL P24_Rec2 Untested WXS Illumina HiSeq 7 0 ENST00000262027.5:c.110-26_110delinsAACCCATTTTCCCTTCTTGCCTCAGT p.X37_splice ENST00000262027 NM_004990.3 0 -MARS UCSF GRCh37 12 57908940 57908940 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 797 102 262 1 ENST00000262027.5:c.2212G>A p.Ala738Thr p.A738T ENST00000262027 NM_004990.3 738 Gca/Aca 0 -MATN2 UCSF GRCh37 8 98943633 98943633 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 18 148 0 ENST00000520016.1:c.595G>A p.Val199Ile p.V199I ENST00000520016 199 Gta/Ata 0 -MATN2 UCSF GRCh37 8 98973655 98973655 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 19 195 0 ENST00000520016.1:c.855G>A p.Met285Ile p.M285I ENST00000520016 285 atG/atA 0 -MAVS UCSF GRCh37 20 3843000 3843000 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 8 84 0 ENST00000428216.2:c.565C>T p.Pro189Ser p.P189S ENST00000428216 NM_020746.4 189 Cct/Tct 0 -MBOAT7 UCSF GRCh37 19 54684759 54684759 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 5 63 0 ENST00000245615.1:c.585C>T p.Ala195= p.A195= ENST00000245615 NM_024298.3 195 gcC/gcT 0 -MBP UCSF GRCh37 18 74700469 74700469 + downstream_gene_variant 3'Flank SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 8 81 0 ENST00000582546 0 -MCF2L UCSF GRCh37 13 113718681 113718681 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 12 135 0 ENST00000535094.2:c.553G>A p.Asp185Asn p.D185N ENST00000535094 NM_001112732.2 185 Gac/Aac 0 -MCM3AP UCSF GRCh37 21 47655304 47655304 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 34 245 0 ENST00000397708.1:c.5821G>A p.Ala1941Thr p.A1941T ENST00000397708 1941 Gcg/Acg 0 -MCM3AP UCSF GRCh37 21 47664949 47664949 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 20 193 1 ENST00000397708.1:c.4810G>A p.Glu1604Lys p.E1604K ENST00000397708 1604 Gag/Aag 0 -MCM5 UCSF GRCh37 22 35799454 35799454 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 26 174 0 ENST00000216122.4:c.342G>A p.Arg114= p.R114= ENST00000216122 NM_006739.3 114 cgG/cgA 0 -MCM5 UCSF GRCh37 22 35812631 35812631 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 26 191 0 ENST00000216122.4:c.1414G>A p.Ala472Thr p.A472T ENST00000216122 NM_006739.3 472 Gct/Act 0 -MCM9 UCSF GRCh37 6 119147334 119147334 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 225 39 322 0 ENST00000316316.6:c.1937G>A p.Ser646Asn p.S646N ENST00000316316 NM_017696.2 646 aGt/aAt 0 -MCOLN1 UCSF GRCh37 19 7591692 7591692 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 35 107 0 ENST00000264079.6:c.451C>T p.Arg151Cys p.R151C ENST00000264079 NM_020533.2 151 Cgt/Tgt 0 -MCTP2 UCSF GRCh37 15 94841544 94841544 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 14 117 0 ENST00000357742.4:c.50G>A p.Arg17Lys p.R17K ENST00000357742 NM_018349.3 17 aGg/aAg 0 -MDGA1 UCSF GRCh37 6 37617999 37617999 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 17 85 0 ENST00000434837.3:c.1495C>T p.Leu499= p.L499= ENST00000434837 NM_153487.3 499 Ctg/Ttg 0 -ME3 UCSF GRCh37 11 86158185 86158185 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 18 155 0 ENST00000543262.1:c.1302G>A p.Glu434= p.E434= ENST00000543262 NM_001161586.1 434 gaG/gaA 0 -MECP2 UCSF GRCh37 X 153297923 153297923 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 9 78 0 ENST00000453960.2:c.148G>A p.Glu50Lys p.E50K ENST00000453960 NM_001110792.1 50 Gag/Aag 0 -MECR UCSF GRCh37 1 29542612 29542612 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 5 39 0 ENST00000263702.6:c.311G>A p.Gly104Glu p.G104E ENST00000263702 104 gGa/gAa 0 -MED1 UCSF GRCh37 17 37564974 37564974 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 48 363 0 ENST00000300651.6:c.3500C>T p.Ser1167Phe p.S1167F ENST00000300651 NM_004774.3 1167 tCt/tTt 0 -MED13L UCSF GRCh37 12 116450687 116450687 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 18 174 0 ENST00000281928.3:c.1195C>T p.Pro399Ser p.P399S ENST00000281928 NM_015335.4 399 Cca/Tca 0 -MED26 UCSF GRCh37 19 16687952 16687952 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 323 41 255 0 ENST00000263390.3:c.689C>T p.Thr230Ile p.T230I ENST00000263390 NM_004831.3 230 aCc/aTc 0 -MED27 UCSF GRCh37 9 134738489 134738489 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 10 80 0 ENST00000292035.5:c.762G>A p.Gln254= p.Q254= ENST00000292035 NM_004269.3 254 caG/caA 0 -MEF2B UCSF GRCh37 19 19257685 19257685 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 12 97 0 ENST00000162023.5:c.542-1G>A p.X181_splice ENST00000162023 0 -MEGF8 UCSF GRCh37 19 42858034 42858034 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 164 25 243 0 ENST00000334370.4:c.3668G>A p.Gly1223Asp p.G1223D ENST00000334370 NM_001410.2 1223 gGc/gAc 0 -MEGF8 UCSF GRCh37 19 42863080 42863080 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 6 19 0 ENST00000334370.4:c.5116G>A p.Glu1706Lys p.E1706K ENST00000334370 NM_001410.2 1706 Gag/Aag 0 -MEGF8 UCSF GRCh37 19 42848871 42848871 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 22 184 0 ENST00000334370.4:c.1983G>A p.Trp661Ter p.W661* ENST00000334370 NM_001410.2 661 tgG/tgA 0 -MEI1 UCSF GRCh37 22 42144223 42144223 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 8 74 0 ENST00000401548.3:c.1792+1G>A p.X598_splice ENST00000401548 NM_152513.3 0 -MEIS3 UCSF GRCh37 19 47920520 47920520 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 5 21 0 ENST00000561293.1:c.100C>T p.Pro34Ser p.P34S ENST00000561293 34 Ccc/Tcc 0 -MEOX1 UCSF GRCh37 17 41720962 41720962 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 15 85 0 ENST00000318579.4:c.536C>T p.Thr179Ile p.T179I ENST00000318579 NM_001040002.1 179 aCc/aTc 0 -MET UCSF GRCh37 7 116339509 116339509 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 319 108 417 0 ENST00000397752.3:c.371C>T p.Thr124Ile p.T124I ENST00000397752 NM_000245.2 124 aCc/aTc 0 -METRN UCSF GRCh37 16 765688 765688 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 8 22 0 ENST00000568223.2:c.209G>A p.Gly70Asp p.G70D ENST00000568223 NM_024042.2 70 gGc/gAc 0 -MFSD10 UCSF GRCh37 4 2934423 2934423 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 17 109 0 ENST00000329687.4:c.435C>T p.Ala145= p.A145= ENST00000329687 NM_001120.4 145 gcC/gcT 0 -MFSD11 UCSF GRCh37 17 74735066 74735066 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 42 282 0 ENST00000588460.1:c.143G>A p.Gly48Glu p.G48E ENST00000588460 NM_001242534.1 48 gGa/gAa 0 -MGA UCSF GRCh37 15 42054537 42054537 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 18 131 0 ENST00000219905.7:c.7721C>T p.Ser2574Phe p.S2574F ENST00000219905 NM_001164273.1 2574 tCc/tTc 0 -MGAM UCSF GRCh37 7 141724908 141724908 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 19 188 0 ENST00000549489.2:c.941G>A p.Gly314Glu p.G314E ENST00000549489 NM_004668.2 314 gGa/gAa 0 -MIB1 UCSF GRCh37 18 19395702 19395702 + synonymous_variant Silent SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 59 221 0 ENST00000261537.6:c.1605T>C p.His535= p.H535= ENST00000261537 NM_020774.3 535 caT/caC 0 -MICAL2 UCSF GRCh37 11 12183794 12183794 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 37 283 0 ENST00000256194.4:c.92C>T p.Ala31Val p.A31V ENST00000256194 NM_014632.2 31 gCc/gTc 0 -MICAL3 UCSF GRCh37 22 18301123 18301123 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 6 29 0 ENST00000441493.2:c.4304C>T p.Ser1435Phe p.S1435F ENST00000441493 NM_015241.2 1435 tCc/tTc 0 -MICALCL UCSF GRCh37 11 12315524 12315524 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 100 16 168 0 ENST00000256186.2:c.546C>T p.Val182= p.V182= ENST00000256186 NM_032867.2 182 gtC/gtT 0 -MICB UCSF GRCh37 6 31466001 31466001 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 10 110 0 ENST00000252229.6:c.31G>A p.Ala11Thr p.A11T ENST00000252229 NM_005931.3 11 Gcc/Acc 0 -MLL3 UCSF GRCh37 7 151880171 151880171 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 25 183 0 ENST00000262189.6:c.5153G>A p.Arg1718Lys p.R1718K ENST00000262189 NM_170606.2 1718 aGg/aAg 0 -MLL3 UCSF GRCh37 7 152012300 152012300 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 16 153 0 ENST00000262189.6:c.513G>A p.Lys171= p.K171= ENST00000262189 NM_170606.2 171 aaG/aaA 0 -MLL4 UCSF GRCh37 19 36221339 36221339 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 366 231 676 1 ENST00000222270.7:c.5173C>T p.Pro1725Ser p.P1725S ENST00000222270 NM_014727.1 1725 Ccc/Tcc 0 -MLL4 UCSF GRCh37 19 36223240 36223240 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 289 56 433 0 ENST00000222270.7:c.5790C>T p.Ser1930= p.S1930= ENST00000222270 NM_014727.1 1930 tcC/tcT 0 -MLL5 UCSF GRCh37 7 104745961 104745961 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 330 66 456 0 ENST00000311117.3:c.2272C>T p.Leu758= p.L758= ENST00000311117 NM_182931.2 758 Cta/Tta 0 -MMEL1 UCSF GRCh37 1 2540829 2540829 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 6 56 0 ENST00000378412.3:c.484C>T p.Arg162Trp p.R162W ENST00000378412 162 Cgg/Tgg 0 -MMP1 UCSF GRCh37 11 102666337 102666337 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 8 56 0 ENST00000315274.6:c.627G>A p.Glu209= p.E209= ENST00000315274 NM_002421.3 209 gaG/gaA 0 -MMP13 UCSF GRCh37 11 102819875 102819875 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 14 136 0 ENST00000260302.3:c.930C>T p.Arg310= p.R310= ENST00000260302 NM_002427.3 310 cgC/cgT 0 -MMP15 UCSF GRCh37 16 58075765 58075765 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 7 90 0 ENST00000219271.3:c.1155C>T p.Phe385= p.F385= ENST00000219271 NM_002428.2 385 ttC/ttT 0 -MMP3 UCSF GRCh37 11 102712885 102712885 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 9 66 0 ENST00000299855.5:c.625G>A p.Gly209Arg p.G209R ENST00000299855 NM_002422.3 209 Ggg/Agg 0 -MN1 UCSF GRCh37 22 28193613 28193613 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 16 113 0 ENST00000302326.4:c.2919G>A p.Gly973= p.G973= ENST00000302326 NM_002430.2 973 ggG/ggA 0 -MOB3B UCSF GRCh37 9 27359113 27359113 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 25 255 0 ENST00000262244.5:c.540C>T p.Ala180= p.A180= ENST00000262244 NM_024761.4 180 gcC/gcT 0 -MORC1 UCSF GRCh37 3 108829620 108829620 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 5 20 0 ENST00000232603.5:c.130G>A p.Ala44Thr p.A44T ENST00000232603 NM_014429.3 44 Gct/Act 0 -MPHOSPH9 UCSF GRCh37 12 123651312 123651312 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 17 102 0 ENST00000392425.3:c.2025C>T p.Ser675= p.S675= ENST00000392425 675 agC/agT 0 -MPL UCSF GRCh37 1 43817944 43817944 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 18 159 0 ENST00000372470.3:c.1623G>A p.Gln541= p.Q541= ENST00000372470 NM_005373.2 541 caG/caA 0 -MPO UCSF GRCh37 17 56357791 56357791 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 6 63 0 ENST00000225275.3:c.184G>A p.Val62Met p.V62M ENST00000225275 NM_000250.1 62 Gtg/Atg 0 -MPZL3 UCSF GRCh37 11 118104212 118104212 + missense_variant Missense_Mutation SNP C C T snp132_rs116163888 P24_Rec2 Untested WXS Illumina HiSeq 175 30 237 0 ENST00000278949.4:c.644G>A p.Cys215Tyr p.C215Y ENST00000278949 215 tGt/tAt 0 -MRGPRF UCSF GRCh37 11 68773465 68773465 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 14 146 0 ENST00000309099.6:c.313G>A p.Gly105Arg p.G105R ENST00000309099 NM_145015.4 105 Ggg/Agg 0 -MRPL2 UCSF GRCh37 6 43024112 43024112 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 28 224 0 ENST00000388752.3:c.337C>T p.Arg113Trp p.R113W ENST00000388752 NM_015950.3 113 Cgg/Tgg 0 -MRPS18B UCSF GRCh37 6 30587281 30587281 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 235 31 317 0 ENST00000259873.4:c.90G>A p.Gln30= p.Q30= ENST00000259873 NM_014046.3 30 caG/caA 0 -MRPS35 UCSF GRCh37 12 27863847 27863847 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 21 198 0 ENST00000081029.3:c.71C>T p.Thr24Ile p.T24I ENST00000081029 NM_021821.3 24 aCt/aTt 0 -MRPS5 UCSF GRCh37 2 95770404 95770404 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 228 33 340 0 ENST00000272418.2:c.744G>A p.Gly248= p.G248= ENST00000272418 NM_031902.3 248 ggG/ggA 0 -MS4A15 UCSF GRCh37 11 60531267 60531267 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 231 157 483 0 ENST00000405633.3:c.61G>A p.Gly21Ser p.G21S ENST00000405633 NM_001098835.1 21 Ggc/Agc 0 -MS4A6E UCSF GRCh37 11 60105330 60105330 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0042 P24_Rec2 Untested WXS Illumina HiSeq 85 42 193 0 ENST00000300182.4:c.264C>T p.Asp88= p.D88= ENST00000300182 NM_139249.2 88 gaC/gaT 0 -MSH4 UCSF GRCh37 1 76269570 76269570 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 21 218 0 ENST00000263187.3:c.399G>A p.Lys133= p.K133= ENST00000263187 NM_002440.3 133 aaG/aaA 0 -MSH5 UCSF GRCh37 6 31710893 31710893 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 3 23 0 ENST00000375703.3:c.361G>A p.Glu121Lys p.E121K ENST00000375703 121 Gag/Aag 0 -MSH6 UCSF GRCh37 2 48026834 48026834 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 154 95 325 0 ENST00000234420.5:c.1712G>A p.Gly571Asp p.G571D ENST00000234420 NM_000179.2 571 gGt/gAt 0 -MSH6 UCSF GRCh37 2 48032083 48032083 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 103 61 192 0 ENST00000234420.5:c.3473G>A p.Cys1158Tyr p.C1158Y ENST00000234420 NM_000179.2 1158 tGt/tAt 0 -MSLN UCSF GRCh37 16 817429 817429 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 4 35 0 ENST00000382862.3:c.1579G>A p.Asp527Asn p.D527N ENST00000382862 NM_013404.4 527 Gac/Aac 0 -MSLN UCSF GRCh37 16 812704 812704 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 163 29 217 0 ENST00000382862.3:c.24C>T p.Pro8= p.P8= ENST00000382862 NM_013404.4 8 ccC/ccT 0 -MTERFD3 UCSF GRCh37 12 107372461 107372461 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 123 16 169 0 ENST00000552029.1:c.32C>T p.Ser11Phe p.S11F ENST00000552029 11 tCc/tTc 0 -MTFMT UCSF GRCh37 15 65298465 65298465 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 160 22 238 0 ENST00000220058.4:c.878G>A p.Ser293Asn p.S293N ENST00000220058 NM_139242.3 293 aGt/aAt 0 -MTHFD2 UCSF GRCh37 2 74438910 74438910 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 8 46 0 ENST00000394053.2:c.806C>T p.Ala269Val p.A269V ENST00000394053 NM_006636.3 269 gCa/gTa 0 -MTMR3 UCSF GRCh37 22 30403157 30403157 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 8 31 0 ENST00000401950.2:c.726G>A p.Trp242Ter p.W242* ENST00000401950 NM_021090.3 242 tgG/tgA 0 -MTNR1B UCSF GRCh37 11 92714758 92714758 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 237 49 306 1 ENST00000257068.2:c.369C>T p.Ser123= p.S123= ENST00000257068 NM_005959.3 123 agC/agT 0 -MTUS1 UCSF GRCh37 8 17504501 17504501 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 139 269 0 ENST00000262102.6:c.3589G>A p.Ala1197Thr p.A1197T ENST00000262102 NM_001001924.2 1197 Gca/Aca 0 -MUC1 UCSF GRCh37 1 155161911 155161911 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 14 130 0 ENST00000368395.1:c.222G>A p.Gln74= p.Q74= ENST00000368395 NM_001204285.1 74 caG/caA 0 -MUC16 UCSF GRCh37 19 9073741 9073741 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 20 166 0 ENST00000397910.4:c.13705G>A p.Val4569Ile p.V4569I ENST00000397910 NM_024690.2 4569 Gtt/Att 0 -MUC16 UCSF GRCh37 19 9060954 9060954 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 247 29 276 0 ENST00000397910.4:c.26492C>T p.Pro8831Leu p.P8831L ENST00000397910 NM_024690.2 8831 cCt/cTt 0 -MUC2 UCSF GRCh37 11 1090790 1090790 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 11 126 0 ENST00000441003.2:c.3685C>T p.Leu1229Phe p.L1229F ENST00000441003 NM_002457.2 1229 Ctt/Ttt 0 -MUC2 UCSF GRCh37 11 1096427 1096427 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 24 183 0 ENST00000441003.2:c.6452C>T p.Pro2151Leu p.P2151L ENST00000441003 NM_002457.2 2151 cCc/cTc 0 -MUC5B UCSF GRCh37 11 1250966 1250966 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 30 285 0 ENST00000529681.1:c.1149G>A p.Gly383= p.G383= ENST00000529681 NM_002458.2 383 ggG/ggA 0 -MUC6 UCSF GRCh37 11 1030681 1030681 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 12 103 0 ENST00000421673.2:c.784C>T p.Pro262Ser p.P262S ENST00000421673 NM_005961.2 262 Ccc/Tcc 0 -MUM1 UCSF GRCh37 19 1371047 1371047 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 253 32 227 0 ENST00000344663.3:c.1959C>T p.Ile653= p.I653= ENST00000344663 653 atC/atT 0 -MVP UCSF GRCh37 16 29855860 29855860 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 24 196 0 ENST00000357402.5:c.1681C>T p.Leu561Phe p.L561F ENST00000357402 NM_017458.3 561 Ctc/Ttc 0 -MXRA8 UCSF GRCh37 1 1290246 1290246 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 16 142 0 ENST00000309212.6:c.765C>T p.Phe255= p.F255= ENST00000309212 NM_032348.2 255 ttC/ttT 0 -MYADM UCSF GRCh37 19 54377419 54377419 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 171 31 267 0 ENST00000391769.2:c.636C>T p.Ile212= p.I212= ENST00000391769 NM_001020821.1 212 atC/atT 0 -MYCL1 UCSF GRCh37 1 40363471 40363471 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 28 214 0 ENST00000397332.2:c.758G>A p.Cys253Tyr p.C253Y ENST00000397332 NM_001033082.2 253 tGc/tAc 0 -MYH1 UCSF GRCh37 17 10411982 10411982 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 10 5 24 0 ENST00000226207.5:c.1595G>A p.Gly532Asp p.G532D ENST00000226207 NM_005963.3 532 gGc/gAc 0 -MYH1 UCSF GRCh37 17 10415188 10415188 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 11 26 0 ENST00000226207.5:c.1384G>A p.Val462Ile p.V462I ENST00000226207 NM_005963.3 462 Gtc/Atc 0 -MYH10 UCSF GRCh37 17 8473102 8473102 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 10 114 0 ENST00000360416.3:c.692C>T p.Ala231Val p.A231V ENST00000360416 NM_001256012.1 231 gCa/gTa 0 -MYH11 UCSF GRCh37 16 15818827 15818827 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 18 170 0 ENST00000396324.3:c.3902G>A p.Gly1301Glu p.G1301E ENST00000396324 NM_001040114.1 1301 gGg/gAg 0 -MYH2 UCSF GRCh37 17 10440993 10440993 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 49 0 ENST00000245503.5:c.1576C>T p.Leu526Phe p.L526F ENST00000245503 NM_017534.5 526 Ctc/Ttc 0 -MYH9 UCSF GRCh37 22 36702043 36702043 + missense_variant Missense_Mutation SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 13 116 0 ENST00000216181.5:c.2092C>A p.Leu698Ile p.L698I ENST00000216181 NM_002473.4 698 Ctc/Atc 0 -MYLK UCSF GRCh37 3 123452730 123452730 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 175 24 208 0 ENST00000360304.3:c.1113G>A p.Arg371= p.R371= ENST00000360304 NM_053025.3 371 agG/agA 0 -MYO15A UCSF GRCh37 17 18055258 18055258 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 76 213 1 ENST00000205890.5:c.7886G>A p.Gly2629Asp p.G2629D ENST00000205890 NM_016239.3 2629 gGc/gAc 0 -MYO18A UCSF GRCh37 17 27424829 27424829 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 220 41 300 1 ENST00000527372.1:c.4079G>A p.Gly1360Glu p.G1360E ENST00000527372 NM_078471.3 1360 gGg/gAg 0 -MYO18A UCSF GRCh37 17 27448665 27448665 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 10 49 0 ENST00000527372.1:c.1271C>T p.Thr424Ile p.T424I ENST00000527372 NM_078471.3 424 aCc/aTc 0 -MYO5A UCSF GRCh37 15 52708393 52708393 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 11 94 0 ENST00000399231.3:c.561C>T p.Ala187= p.A187= ENST00000399231 NM_000259.3 187 gcC/gcT 0 -MYO5B UCSF GRCh37 18 47431193 47431193 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 12 120 0 ENST00000285039.7:c.2420C>T p.Ala807Val p.A807V ENST00000285039 NM_001080467.2 807 gCt/gTt 0 -MYO7A UCSF GRCh37 11 76895733 76895733 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 19 142 0 ENST00000409709.3:c.3476G>A p.Gly1159Asp p.G1159D ENST00000409709 NM_000260.3 1159 gGc/gAc 0 -MYO7B UCSF GRCh37 2 128383042 128383042 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 18 190 0 ENST00000428314.1:c.4069C>T p.Pro1357Ser p.P1357S ENST00000428314 NM_001080527.1 1357 Ccc/Tcc 0 -MYO7B UCSF GRCh37 2 128387376 128387376 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 10 59 0 ENST00000428314.1:c.4703T>C p.Val1568Ala p.V1568A ENST00000428314 NM_001080527.1 1568 gTc/gCc 0 -MYO7B UCSF GRCh37 2 128339968 128339968 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 13 122 0 ENST00000428314.1:c.1290G>A p.Arg430= p.R430= ENST00000428314 NM_001080527.1 430 cgG/cgA 0 -MYO9A UCSF GRCh37 15 72190181 72190181 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 198 35 287 0 ENST00000356056.5:c.4663G>A p.Glu1555Lys p.E1555K ENST00000356056 NM_006901.3 1555 Gag/Aag 0 -MYO9A UCSF GRCh37 15 72196314 72196314 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 9 132 0 ENST00000356056.5:c.2833G>A p.Val945Ile p.V945I ENST00000356056 NM_006901.3 945 Gtt/Att 0 -MYOM1 UCSF GRCh37 18 3215166 3215166 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 14 84 0 ENST00000356443.4:c.56A>G p.Asn19Ser p.N19S ENST00000356443 NM_019856.1 19 aAc/aGc 0 -MYOT UCSF GRCh37 5 137206617 137206617 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 378 59 588 0 ENST00000239926.4:c.277C>T p.Pro93Ser p.P93S ENST00000239926 NM_006790.2 93 Cca/Tca 0 -MYOZ2 UCSF GRCh37 4 120072107 120072107 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 17 198 0 ENST00000307128.5:c.157C>T p.Arg53Cys p.R53C ENST00000307128 NM_016599.4 53 Cgt/Tgt 0 -NAB1 UCSF GRCh37 2 191551996 191551996 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 53 340 0 ENST00000337386.5:c.1328G>A p.Gly443Glu p.G443E ENST00000337386 NM_005966.3 443 gGg/gAg 0 -NACAD UCSF GRCh37 7 45124928 45124928 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 12 55 0 ENST00000490531.2:c.851G>A p.Ser284Asn p.S284N ENST00000490531 NM_001146334.1 284 aGc/aAc 0 -NAGPA UCSF GRCh37 16 5081863 5081863 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 27 183 0 ENST00000312251.3:c.565C>T p.Leu189= p.L189= ENST00000312251 NM_016256.3 189 Ctg/Ttg 0 -NALCN UCSF GRCh37 13 101753175 101753175 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 10 67 0 ENST00000251127.6:c.3122G>A p.Gly1041Glu p.G1041E ENST00000251127 NM_052867.2 1041 gGa/gAa 0 -NASP UCSF GRCh37 1 46073227 46073227 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 4 25 0 ENST00000350030.3:c.644G>A p.Gly215Glu p.G215E ENST00000350030 NM_002482.3 215 gGa/gAa 0 -NAT10 UCSF GRCh37 11 34129869 34129869 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 31 136 0 ENST00000257829.3:c.97G>A p.Gly33Arg p.G33R ENST00000257829 NM_024662.2 33 Gga/Aga 0 -NAV1 UCSF GRCh37 1 201750262 201750262 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 13 151 0 ENST00000367296.4:c.1488G>A p.Gly496= p.G496= ENST00000367296 NM_020443.4 496 ggG/ggA 0 -NAV2 UCSF GRCh37 11 20044667 20044667 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 6 35 0 ENST00000396087.3:c.2838-12838G>A *946* ENST00000396087 NM_001244963.1 0 -NAV3 UCSF GRCh37 12 78400710 78400710 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 10 137 0 ENST00000536525.2:c.1392G>A p.Gln464= p.Q464= ENST00000536525 NM_014903.4 464 caG/caA 0 -NBEA UCSF GRCh37 13 35751142 35751142 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 17 209 0 ENST00000400445.3:c.4564G>A p.Glu1522Lys p.E1522K ENST00000400445 NM_015678.4 1522 Gaa/Aaa 0 -NCAPG2 UCSF GRCh37 7 158454921 158454921 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0014,snp132_rs61746693 P24_Rec2 Untested WXS Illumina HiSeq 145 17 151 0 ENST00000409423.1:c.1954G>A p.Ala652Thr p.A652T ENST00000409423 NM_001281932.1 652 Gcc/Acc 0 -NCKAP1L UCSF GRCh37 12 54920453 54920453 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 58 184 0 ENST00000293373.6:c.2298C>T p.Ile766= p.I766= ENST00000293373 NM_005337.4 766 atC/atT 0 -NCKAP5 UCSF GRCh37 2 133542583 133542583 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 427 66 634 0 ENST00000409261.1:c.1801C>T p.Pro601Ser p.P601S ENST00000409261 NM_207363.2 601 Cct/Tct 0 -NCL UCSF GRCh37 2 232326445 232326445 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 370 51 544 0 ENST00000322723.4:c.419C>T p.Ala140Val p.A140V ENST00000322723 NM_005381.2 140 gCc/gTc 0 -NCL UCSF GRCh37 2 232319968 232319968 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 384 64 581 1 ENST00000322723.4:c.2067C>T p.Gly689= p.G689= ENST00000322723 NM_005381.2 689 ggC/ggT 0 -NCOA6 UCSF GRCh37 20 33328235 33328235 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 20 154 0 ENST00000374796.2:c.5825C>T p.Ser1942Phe p.S1942F ENST00000374796 1942 tCt/tTt 0 -NCOR2 UCSF GRCh37 12 124821445 124821445 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 10 64 0 ENST00000405201.1:c.5969C>T p.Thr1990Ile p.T1990I ENST00000405201 1990 aCc/aTc 0 -NDUFA7 UCSF GRCh37 19 8386193 8386193 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 8 41 0 ENST00000301457.2:c.50G>A p.Gly17Glu p.G17E ENST00000301457 NM_005001.3 17 gGg/gAg 0 -NEDD4L UCSF GRCh37 18 56033398 56033398 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 136 19 177 0 ENST00000400345.3:c.2001G>A p.Trp667Ter p.W667* ENST00000400345 NM_001144967.2 667 tgG/tgA 0 -NEDD9 UCSF GRCh37 6 11213641 11213641 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 32 212 0 ENST00000379446.5:c.332C>T p.Ser111Phe p.S111F ENST00000379446 NM_001271033.1 111 tCc/tTc 0 -NEK5 UCSF GRCh37 13 52701586 52701586 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 28 306 0 ENST00000355568.4:c.33G>A p.Gly11= p.G11= ENST00000355568 NM_199289.1 11 ggG/ggA 0 -NELF UCSF GRCh37 9 140347022 140347022 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 12 115 0 ENST00000371475.3:c.1148C>T p.Thr383Ile p.T383I ENST00000371475 NM_001130969.1 383 aCc/aTc 0 -NES UCSF GRCh37 1 156639827 156639827 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 322 174 541 1 ENST00000368223.3:c.4153G>A p.Glu1385Lys p.E1385K ENST00000368223 NM_006617.1 1385 Gag/Aag 0 -NES UCSF GRCh37 1 156646436 156646436 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 15 114 0 ENST00000368223.3:c.621C>T p.Ala207= p.A207= ENST00000368223 NM_006617.1 207 gcC/gcT 0 -NEURL4 UCSF GRCh37 17 7229659 7229659 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 19 141 0 ENST00000399464.2:c.1208C>T p.Thr403Ile p.T403I ENST00000399464 NM_032442.2 403 aCc/aTc 0 -NEUROG2 UCSF GRCh37 4 113436633 113436633 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 13 113 0 ENST00000313341.3:c.-1-1G>A p.X1_splice ENST00000313341 NM_024019.3 0 -NF1 UCSF GRCh37 17 29559818 29559818 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 88 71 162 0 ENST00000358273.4:c.3415G>A p.Ala1139Thr p.A1139T ENST00000358273 NM_001042492.2 1139 Gca/Aca 0 -NF1 UCSF GRCh37 17 29654615 29654620 + inframe_deletion In_Frame_Del DEL AGAAAT AGAAAT - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 0 ENST00000358273.4:c.5367_5372del p.Glu1789_Ile1791delinsAsp p.E1789_I1791delinsD ENST00000358273 NM_001042492.2 1789 gaAGAAATc/gac 0 -NF2 UCSF GRCh37 22 30077550 30077550 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 37 141 0 ENST00000338641.4:c.1697C>T p.Ser566Phe p.S566F ENST00000338641 NM_000268.3 566 tCc/tTc 0 -NFASC UCSF GRCh37 1 204943842 204943842 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 7 85 0 ENST00000339876.6:c.1449C>T p.Asn483= p.N483= ENST00000339876 NM_001005388.2 483 aaC/aaT 0 -NFIL3 UCSF GRCh37 9 94172319 94172319 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 418 70 588 0 ENST00000297689.3:c.698G>A p.Arg233Lys p.R233K ENST00000297689 NM_005384.2 233 aGa/aAa 0 -NFKBIA UCSF GRCh37 14 35871683 35871683 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 18 174 0 ENST00000216797.5:c.823G>A p.Glu275Lys p.E275K ENST00000216797 NM_020529.2 275 Gaa/Aaa 0 -NFYA UCSF GRCh37 6 41051812 41051812 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 9 54 0 ENST00000341376.6:c.190G>A p.Val64Ile p.V64I ENST00000341376 NM_002505.4 64 Gtc/Atc 0 -NGDN UCSF GRCh37 14 23946745 23946745 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 23 131 0 ENST00000408901.3:c.904C>T p.Pro302Ser p.P302S ENST00000408901 NM_015514.1 302 Cct/Tct 0 -NHEJ1 UCSF GRCh37 2 220012486 220012486 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 22 86 0 ENST00000356853.5:c.422G>A p.Gly141Asp p.G141D ENST00000356853 NM_024782.2 141 gGc/gAc 0 -NID2 UCSF GRCh37 14 52477742 52477742 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 16 184 1 ENST00000216286.5:c.3574G>A p.Ala1192Thr p.A1192T ENST00000216286 NM_007361.3 1192 Gcc/Acc 0 -NIF3L1 UCSF GRCh37 2 201759992 201759992 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 164 23 273 0 ENST00000409020.1:c.605G>A p.Gly202Asp p.G202D ENST00000409020 202 gGt/gAt 0 -NIF3L1 UCSF GRCh37 2 201760089 201760089 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 21 210 0 ENST00000409020.1:c.702G>A p.Lys234= p.K234= ENST00000409020 234 aaG/aaA 0 -NIPBL UCSF GRCh37 5 37017264 37017264 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 21 163 0 ENST00000282516.8:c.4920G>A p.Gln1640= p.Q1640= ENST00000282516 NM_133433.3 1640 caG/caA 0 -NKD2 UCSF GRCh37 5 1034924 1034924 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 8 81 0 ENST00000296849.5:c.480C>T p.Asn160= p.N160= ENST00000296849 NM_033120.3 160 aaC/aaT 0 -NKIRAS1 UCSF GRCh37 3 23934754 23934754 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 379 54 523 0 ENST00000443659.2:c.411G>A p.Gln137= p.Q137= ENST00000443659 137 caG/caA 0 -NKPD1 UCSF GRCh37 19 45656002 45656002 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 134 35 160 0 ENST00000317951.4:c.1693G>A p.Asp565Asn p.D565N ENST00000317951 NM_198478.3 565 Gac/Aac 0 -NLRC4 UCSF GRCh37 2 32476057 32476057 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 41 375 0 ENST00000404025.2:c.876C>T p.Ala292= p.A292= ENST00000404025 292 gcC/gcT 0 -NLRP5 UCSF GRCh37 19 56561867 56561867 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 16 189 0 ENST00000390649.3:c.3041G>A p.Ser1014Asn p.S1014N ENST00000390649 NM_153447.4 1014 aGc/aAc 0 -NLRP8 UCSF GRCh37 19 56466187 56466187 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 14 90 0 ENST00000291971.3:c.763A>G p.Ser255Gly p.S255G ENST00000291971 NM_176811.2 255 Agc/Ggc 0 -NLRP9 UCSF GRCh37 19 56249712 56249712 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 16 189 0 ENST00000332836.2:c.29G>A p.Gly10Asp p.G10D ENST00000332836 NM_176820.2 10 gGc/gAc 0 -NMB UCSF GRCh37 15 85201240 85201240 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 15 162 0 ENST00000394588.3:c.144C>T p.Asn48= p.N48= ENST00000394588 NM_021077.3 48 aaC/aaT 0 -NMT1 UCSF GRCh37 17 43138709 43138709 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 8 72 0 ENST00000592782.1:c.12G>A p.Glu4= p.E4= ENST00000592782 4 gaG/gaA 0 -NNMT UCSF GRCh37 11 114182874 114182874 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 10 106 0 ENST00000535401.1:c.470C>T p.Ala157Val p.A157V ENST00000535401 157 gCt/gTt 0 -NOB1 UCSF GRCh37 16 69776273 69776273 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 5 52 0 ENST00000268802.5:c.1201C>T p.Pro401Ser p.P401S ENST00000268802 NM_014062.2 401 Ccc/Tcc 0 -NOC4L UCSF GRCh37 12 132635830 132635830 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 391 57 522 0 ENST00000330579.1:c.990C>T p.Leu330= p.L330= ENST00000330579 NM_024078.1 330 ctC/ctT 0 -NOD2 UCSF GRCh37 16 50745218 50745218 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 272 50 303 0 ENST00000300589.2:c.1396G>A p.Ala466Thr p.A466T ENST00000300589 NM_022162.1 466 Gcg/Acg 0 -NOL11 UCSF GRCh37 17 65714129 65714129 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.001,1000g2011may_all_0.0024 P24_Rec2 Untested WXS Illumina HiSeq 65 12 86 0 ENST00000253247.4:c.66C>T p.Leu22= p.L22= ENST00000253247 NM_015462.3 22 ctC/ctT 0 -NOL12 UCSF GRCh37 22 38084991 38084991 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 22 123 0 ENST00000359114.4:c.373C>T p.Pro125Ser p.P125S ENST00000359114 NM_024313.2 125 Cca/Tca 0 -NOL6 UCSF GRCh37 9 33466700 33466700 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 3 37 0 ENST00000297990.4:c.1958G>A p.Ser653Asn p.S653N ENST00000297990 NM_022917.4 653 aGc/aAc 0 -NOTCH2 UCSF GRCh37 1 120510832 120510832 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 7 101 0 ENST00000256646.2:c.1132G>A p.Ala378Thr p.A378T ENST00000256646 NM_024408.3 378 Gca/Aca 0 -NOTCH3 UCSF GRCh37 19 15303236 15303236 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 17 115 0 ENST00000263388.2:c.292G>A p.Val98Met p.V98M ENST00000263388 NM_000435.2 98 Gtg/Atg 0 -NOX4 UCSF GRCh37 11 89073276 89073276 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 3 38 0 ENST00000263317.4:c.1401G>A p.Gln467= p.Q467= ENST00000263317 467 caG/caA 0 -NOXO1 UCSF GRCh37 16 2031163 2031163 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 14 112 0 ENST00000397280.4:c.18C>T p.Tyr6= p.Y6= ENST00000397280 6 taC/taT 0 -NPAS2 UCSF GRCh37 2 101607309 101607309 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 8 82 0 ENST00000335681.5:c.2086G>A p.Val696Ile p.V696I ENST00000335681 NM_002518.3 696 Gtc/Atc 0 -NPEPL1 UCSF GRCh37 20 57268858 57268858 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 202 36 272 0 ENST00000356091.6:c.216C>T p.Asn72= p.N72= ENST00000356091 NM_024663.3 72 aaC/aaT 0 -NPM1 UCSF GRCh37 5 170832397 170832397 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 3 40 0 ENST00000296930.5:c.761G>A p.Ser254Asn p.S254N ENST00000296930 NM_002520.6 254 aGt/aAt 0 -NPR1 UCSF GRCh37 1 153651984 153651984 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 12 73 0 ENST00000368680.3:c.400G>A p.Val134Ile p.V134I ENST00000368680 NM_000906.3 134 Gtc/Atc 0 -NPR3 UCSF GRCh37 5 32780919 32780919 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 19 144 0 ENST00000265074.8:c.1287G>A p.Gln429= p.Q429= ENST00000265074 NM_001204375.1 429 caG/caA 0 -NR1H2 UCSF GRCh37 19 50883108 50883108 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 39 245 0 ENST00000253727.5:c.999C>T p.Thr333= p.T333= ENST00000253727 NM_007121.5 333 acC/acT 0 -NRAP UCSF GRCh37 10 115364464 115364464 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 26 115 0 ENST00000359988.3:c.4131C>T p.Ser1377= p.S1377= ENST00000359988 NM_001261463.1 1377 agC/agT 0 -NRG1 UCSF GRCh37 8 32620750 32620750 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 176 27 204 0 ENST00000356819.4:c.1284-516C>T *428* ENST00000356819 NM_013956.3 0 -NRG1 UCSF GRCh37 8 31498022 31498022 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 11 91 0 ENST00000520407.1:c.522C>T p.Gly174= p.G174= ENST00000520407 NM_013962.2 174 ggC/ggT 0 -NRL UCSF GRCh37 14 24550553 24550553 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 8 83 0 ENST00000561028.1:c.606G>A p.Arg202= p.R202= ENST00000561028 202 cgG/cgA 0 -NRL UCSF GRCh37 14 24550568 24550568 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 6 70 0 ENST00000561028.1:c.591G>A p.Gln197= p.Q197= ENST00000561028 197 caG/caA 0 -NRXN1 UCSF GRCh37 2 50573959 50573959 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 10 56 0 ENST00000404971.1:c.3485-109851C>T *1162* ENST00000404971 NM_001135659.1 0 -NRXN3 UCSF GRCh37 14 79181181 79181181 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 35 240 0 ENST00000554719.1:c.624C>T p.Tyr208= p.Y208= ENST00000554719 NM_004796.5 208 taC/taT 0 -NSDHL UCSF GRCh37 X 152037444 152037444 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 61 250 0 ENST00000370274.3:c.906C>T p.Tyr302= p.Y302= ENST00000370274 NM_015922.2 302 taC/taT 0 -NT5C2 UCSF GRCh37 10 104865512 104865512 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 18 391 1 ENST00000343289.5:c.340G>A p.Ala114Thr p.A114T ENST00000343289 NM_012229.4 114 Gcc/Acc 0 -NT5M UCSF GRCh37 17 17209926 17209926 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 9 83 0 ENST00000389022.4:c.337G>A p.Glu113Lys p.E113K ENST00000389022 NM_020201.3 113 Gaa/Aaa 0 -NTN4 UCSF GRCh37 12 96131783 96131786 + frameshift_variant Frame_Shift_Del DEL TTCA TTCA - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 7 0 ENST00000343702.4:c.722_725del p.Leu241ProfsTer159 p.L241Pfs*159 ENST00000343702 NM_021229.3 241 cTGAAc/cc 0 -NTN5 UCSF GRCh37 19 49164996 49164996 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 10 84 0 ENST00000270235.4:c.1408G>A p.Glu470Lys p.E470K ENST00000270235 NM_145807.1 470 Gag/Aag 0 -NTRK1 UCSF GRCh37 1 156845411 156845411 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 6 78 0 ENST00000524377.1:c.1454G>A p.Gly485Glu p.G485E ENST00000524377 NM_002529.3 485 gGg/gAg 0 -NTRK3 UCSF GRCh37 15 88678626 88678626 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 11 49 0 ENST00000360948.2:c.910C>T p.Pro304Ser p.P304S ENST00000360948 NM_001012338.2 304 Ccc/Tcc 0 -NTSR2 UCSF GRCh37 2 11802235 11802235 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 18 137 0 ENST00000306928.5:c.756C>T p.Ser252= p.S252= ENST00000306928 NM_012344.3 252 agC/agT 0 -NUDT6 UCSF GRCh37 4 123843525 123843525 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 18 131 0 ENST00000304430.5:c.203G>A p.Arg68His p.R68H ENST00000304430 NM_007083.4 68 cGc/cAc 0 -NUMA1 UCSF GRCh37 11 71725214 71725214 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 249 51 322 0 ENST00000393695.3:c.3335C>T p.Ala1112Val p.A1112V ENST00000393695 NM_006185.2 1112 gCt/gTt 0 -NUMA1 UCSF GRCh37 11 71730027 71730027 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 5 44 0 ENST00000393695.3:c.585-1G>A p.X195_splice ENST00000393695 NM_006185.2 0 -NUP133 UCSF GRCh37 1 229611474 229611474 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 9 150 0 ENST00000261396.3:c.1762C>T p.Pro588Ser p.P588S ENST00000261396 NM_018230.2 588 Cct/Tct 0 -NUP153 UCSF GRCh37 6 17626056 17626056 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 12 99 0 ENST00000262077.2:c.3884C>T p.Thr1295Ile p.T1295I ENST00000262077 NM_001278210.1 1295 aCc/aTc 0 -NUP153 UCSF GRCh37 6 17669248 17669248 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 8 91 0 ENST00000262077.2:c.1026G>A p.Arg342= p.R342= ENST00000262077 NM_001278210.1 342 agG/agA 0 -NUP210 UCSF GRCh37 3 13364863 13364863 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 17 204 0 ENST00000254508.5:c.4714G>A p.Ala1572Thr p.A1572T ENST00000254508 NM_024923.3 1572 Gct/Act 0 -NUP210L UCSF GRCh37 1 153995709 153995709 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 17 106 0 ENST00000368559.3:c.4187C>T p.Thr1396Ile p.T1396I ENST00000368559 NM_207308.2 1396 aCc/aTc 0 -NUP85 UCSF GRCh37 17 73208118 73208118 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 6 82 0 ENST00000245544.4:c.322G>A p.Val108Ile p.V108I ENST00000245544 NM_024844.3 108 Gtc/Atc 0 -NWD1 UCSF GRCh37 19 16870075 16870075 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 176 186 307 0 ENST00000524140.2:c.1809C>T p.Ser603= p.S603= ENST00000524140 NM_001007525.3 603 tcC/tcT 0 -NXPH2 UCSF GRCh37 2 139428815 139428815 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 193 36 257 0 ENST00000272641.3:c.472G>A p.Val158Met p.V158M ENST00000272641 NM_007226.2 158 Gtg/Atg 0 -NXPH2 UCSF GRCh37 2 139429013 139429013 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 344 44 473 0 ENST00000272641.3:c.274G>A p.Glu92Lys p.E92K ENST00000272641 NM_007226.2 92 Gag/Aag 0 -OBSCN UCSF GRCh37 1 228548193 228548193 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 20 89 0 ENST00000570156.2:c.21533-2084C>T *7178* ENST00000570156 NM_001271223.2 0 -OBSCN UCSF GRCh37 1 228476009 228476009 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 19 113 0 ENST00000570156.2:c.11346C>T p.Ala3782= p.A3782= ENST00000570156 NM_001271223.2 3782 gcC/gcT 0 -OBSL1 UCSF GRCh37 2 220435838 220435838 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 38 80 0 ENST00000404537.1:c.117G>A p.Pro39= p.P39= ENST00000404537 NM_015311.2 39 ccG/ccA 0 -OBSL1 UCSF GRCh37 2 220435388 220435388 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 10 113 0 ENST00000404537.1:c.567C>T p.Gly189= p.G189= ENST00000404537 NM_015311.2 189 ggC/ggT 0 -ODZ1 UCSF GRCh37 X 123519840 123519840 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 16 49 0 ENST00000422452.2:c.5763C>T p.Val1921= p.V1921= ENST00000422452 NM_001163279.1 1921 gtC/gtT 0 -ODZ4 UCSF GRCh37 11 78399263 78399263 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 27 269 0 ENST00000278550.7:c.5096G>A p.Ser1699Asn p.S1699N ENST00000278550 NM_001098816.2 1699 aGc/aAc 0 -OGFR UCSF GRCh37 20 61444254 61444254 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 7 68 0 ENST00000290291.6:c.1287G>A p.Gln429= p.Q429= ENST00000290291 NM_007346.2 429 caG/caA 0 -OLFML3 UCSF GRCh37 1 114524379 114524379 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.00188 P24_Rec2 Untested WXS Illumina HiSeq 193 34 265 0 ENST00000320334.4:c.1209G>A p.Glu403= p.E403= ENST00000320334 NM_020190.2 403 gaG/gaA 0 -OPA1 UCSF GRCh37 3 193335075 193335075 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 82 390 0 ENST00000361908.3:c.556+1G>A p.X186_splice ENST00000361908 NM_130836.2 0 -OPRD1 UCSF GRCh37 1 29189789 29189789 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 17 135 0 ENST00000234961.2:c.1113C>T p.Ala371= p.A371= ENST00000234961 NM_000911.3 371 gcC/gcT 0 -OR10A6 UCSF GRCh37 11 7950088 7950088 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 32 298 0 ENST00000309838.2:c.122G>A p.Gly41Glu p.G41E ENST00000309838 NM_001004461.1 41 gGa/gAa 0 -OR11L1 UCSF GRCh37 1 248004999 248004999 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 10 79 0 ENST00000355784.2:c.200C>T p.Ser67Phe p.S67F ENST00000355784 NM_001001959.1 67 tCc/tTc 0 -OR12D3 UCSF GRCh37 6 29342990 29342990 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 173 39 282 0 ENST00000396806.3:c.75C>T p.Phe25= p.F25= ENST00000396806 NM_030959.2 25 ttC/ttT 0 -OR13A1 UCSF GRCh37 10 45799010 45799010 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 7 92 0 ENST00000553795.1:c.861G>A p.Gly287= p.G287= ENST00000553795 NM_001004297.2 287 ggG/ggA 0 -OR13C2 UCSF GRCh37 9 107367283 107367283 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 26 259 0 ENST00000542196.1:c.626C>T p.Thr209Ile p.T209I ENST00000542196 NM_001004481.1 209 aCa/aTa 0 -OR1N2 UCSF GRCh37 9 125316357 125316357 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 18 242 0 ENST00000373688.2:c.909C>T p.Asn303= p.N303= ENST00000373688 NM_001004457.1 303 aaC/aaT 0 -OR2C1 UCSF GRCh37 16 3406282 3406282 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 239 33 359 0 ENST00000304936.2:c.342G>A p.Leu114= p.L114= ENST00000304936 NM_012368.2 114 ctG/ctA 0 -OR2L13 UCSF GRCh37 1 248262866 248262866 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 447 63 721 0 ENST00000366478.2:c.189C>T p.Ser63= p.S63= ENST00000366478 NM_175911.2 63 agC/agT 0 -OR2T1 UCSF GRCh37 1 248570216 248570216 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 22 158 0 ENST00000366474.1:c.921C>T p.Tyr307= p.Y307= ENST00000366474 NM_030904.1 307 taC/taT 0 -OR4D2 UCSF GRCh37 17 56247215 56247215 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 383 62 617 0 ENST00000545221.1:c.199G>A p.Ala67Thr p.A67T ENST00000545221 NM_001004707.3 67 Gct/Act 0 -OR4L1 UCSF GRCh37 14 20528749 20528749 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 286 35 432 0 ENST00000315683.1:c.546C>T p.Pro182= p.P182= ENST00000315683 NM_001004717.1 182 ccC/ccT 0 -OR4N5 UCSF GRCh37 14 20612588 20612588 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 238 42 437 0 ENST00000333629.1:c.694G>A p.Gly232Arg p.G232R ENST00000333629 NM_001004724.1 232 Gga/Aga 0 -OR5C1 UCSF GRCh37 9 125551690 125551690 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 27 241 0 ENST00000373680.2:c.479C>T p.Ala160Val p.A160V ENST00000373680 NM_001001923.1 160 gCc/gTc 0 -OR5M3 UCSF GRCh37 11 56237418 56237418 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 5 33 0 ENST00000312240.2:c.556G>A p.Ala186Thr p.A186T ENST00000312240 NM_001004742.2 186 Gcc/Acc 0 -OR6B3 UCSF GRCh37 2 240984737 240984737 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 10 112 0 ENST00000319423.4:c.753C>T p.Phe251= p.F251= ENST00000319423 NM_173351.1 251 ttC/ttT 0 -OR6C2 UCSF GRCh37 12 55846226 55846226 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 316 40 497 0 ENST00000322678.1:c.229C>T p.Pro77Ser p.P77S ENST00000322678 NM_054105.1 77 Ccc/Tcc 0 -OR6Q1 UCSF GRCh37 11 57799189 57799189 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 278 40 422 0 ENST00000302622.3:c.765C>T p.Phe255= p.F255= ENST00000302622 NM_001005186.2 255 ttC/ttT 0 -OR7E24 UCSF GRCh37 19 9361896 9361896 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 9 77 0 ENST00000456448.1:c.177G>A p.Gly59= p.G59= ENST00000456448 NM_001079935.1 59 ggG/ggA 0 -OR8S1 UCSF GRCh37 12 48920197 48920197 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 299 53 433 0 ENST00000310194.1:c.783G>A p.Met261Ile p.M261I ENST00000310194 NM_001005203.2 261 atG/atA 0 -OR9Q2 UCSF GRCh37 11 57958336 57958336 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 359 64 496 0 ENST00000311591.3:c.374C>T p.Ala125Val p.A125V ENST00000311591 NM_001005283.2 125 gCc/gTc 0 -ORAI1 UCSF GRCh37 12 122079075 122079075 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 21 159 0 ENST00000330079.7:c.438C>T p.Ile146= p.I146= ENST00000330079 NM_032790.3 146 atC/atT 0 -ORMDL2 UCSF GRCh37 12 56212844 56212844 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 486 84 676 0 ENST00000243045.5:c.61G>A p.Gly21Ser p.G21S ENST00000243045 NM_014182.4 21 Ggc/Agc 0 -OSBPL2 UCSF GRCh37 20 60861698 60861698 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 123 20 137 0 ENST00000313733.3:c.1056G>A p.Glu352= p.E352= ENST00000313733 NM_144498.2 352 gaG/gaA 0 -OSMR UCSF GRCh37 5 38919054 38919054 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 507 210 847 0 ENST00000274276.3:c.1475G>A p.Ser492Asn p.S492N ENST00000274276 NM_003999.2 492 aGc/aAc 0 -OSMR UCSF GRCh37 5 38876472 38876472 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 26 279 0 ENST00000274276.3:c.243G>A p.Trp81Ter p.W81* ENST00000274276 NM_003999.2 81 tgG/tgA 0 -OTOF UCSF GRCh37 2 26699183 26699183 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 17 111 0 ENST00000272371.2:c.2679G>A p.Leu893= p.L893= ENST00000272371 NM_194248.2 893 ctG/ctA 0 -OTOP1 UCSF GRCh37 4 4199408 4199408 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 11 116 0 ENST00000296358.4:c.1153C>T p.Pro385Ser p.P385S ENST00000296358 NM_177998.1 385 Ccg/Tcg 0 -OTOR UCSF GRCh37 20 16729077 16729077 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 226 32 323 0 ENST00000246081.2:c.31G>A p.Gly11Ser p.G11S ENST00000246081 NM_020157.3 11 Ggt/Agt 0 -OTP UCSF GRCh37 5 76926188 76926188 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 8 51 0 ENST00000306422.3:c.879C>T p.Leu293= p.L293= ENST00000306422 NM_032109.2 293 ctC/ctT 0 -OTUD7A UCSF GRCh37 15 31851175 31851175 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 177 62 433 0 ENST00000307050.4:c.547G>A p.Ala183Thr p.A183T ENST00000307050 NM_130901.1 183 Gca/Aca 0 -OXER1 UCSF GRCh37 2 42990903 42990903 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 9 76 0 ENST00000378661.2:c.417C>T p.Phe139= p.F139= ENST00000378661 NM_148962.4 139 ttC/ttT 0 -OXNAD1 UCSF GRCh37 3 16343261 16343261 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 10 89 0 ENST00000285083.5:c.561C>T p.Ile187= p.I187= ENST00000285083 NM_138381.3 187 atC/atT 0 -P2RX5 UCSF GRCh37 17 3593904 3593904 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 252 45 409 0 ENST00000225328.5:c.431G>A p.Gly144Glu p.G144E ENST00000225328 NM_001204519.1 144 gGa/gAa 0 -PA2G4 UCSF GRCh37 12 56501380 56501380 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 19 175 0 ENST00000303305.6:c.469G>A p.Val157Ile p.V157I ENST00000303305 NM_006191.2 157 Gtc/Atc 0 -PADI4 UCSF GRCh37 1 17666209 17666209 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 9 41 0 ENST00000375448.4:c.553C>T p.Leu185= p.L185= ENST00000375448 NM_012387.2 185 Ctg/Ttg 0 -PAK1 UCSF GRCh37 11 77054972 77054972 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 27 251 0 ENST00000356341.3:c.890C>T p.Ala297Val p.A297V ENST00000356341 NM_002576.4 297 gCc/gTc 0 -PANK2 UCSF GRCh37 20 3888757 3888757 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 155 23 207 0 ENST00000316562.4:c.813G>A p.Lys271= p.K271= ENST00000316562 NM_153638.2 271 aaG/aaA 0 -PAPD7 UCSF GRCh37 5 6746357 6746357 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 21 257 0 ENST00000230859.6:c.526G>A p.Asp176Asn p.D176N ENST00000230859 NM_001171805.1 176 Gat/Aat 0 -PAQR8 UCSF GRCh37 6 52268237 52268237 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 315 53 431 0 ENST00000442253.2:c.226G>A p.Val76Met p.V76M ENST00000442253 NM_133367.4 76 Gtg/Atg 0 -PARD3B UCSF GRCh37 2 206165297 206165297 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 5 35 0 ENST00000358768.2:c.2043G>A p.Lys681= p.K681= ENST00000358768 681 aaG/aaA 0 -PARP10 UCSF GRCh37 8 145051948 145051948 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 20 91 0 ENST00000313028.7:c.2782G>A p.Val928Met p.V928M ENST00000313028 NM_032789.3 928 Gtg/Atg 0 -PATZ1 UCSF GRCh37 22 31741085 31741085 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 40 213 0 ENST00000266269.5:c.504C>T p.Ala168= p.A168= ENST00000266269 NM_014323.2 168 gcC/gcT 0 -PBX3 UCSF GRCh37 9 128725342 128725342 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 6 45 0 ENST00000373489.5:c.1174C>T p.Leu392Phe p.L392F ENST00000373489 NM_006195.5 392 Ctt/Ttt 0 -PCBP1 UCSF GRCh37 2 70315113 70315113 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 11 113 0 ENST00000303577.5:c.238G>A p.Glu80Lys p.E80K ENST00000303577 NM_006196.3 80 Gag/Aag 0 -PCCB UCSF GRCh37 3 135980893 135980893 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 11 70 0 ENST00000469217.1:c.589G>A p.Ala197Thr p.A197T ENST00000469217 NM_001178014.1 197 Gca/Aca 0 -PCCB UCSF GRCh37 3 136046504 136046504 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 31 100 0 ENST00000469217.1:c.1388G>A p.Ser463Asn p.S463N ENST00000469217 NM_001178014.1 463 aGc/aAc 0 -PCDH17 UCSF GRCh37 13 58207455 58207455 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 200 37 291 0 ENST00000377918.3:c.775G>A p.Gly259Ser p.G259S ENST00000377918 NM_001040429.2 259 Ggt/Agt 0 -PCDHA1 UCSF GRCh37 5 140166180 140166180 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 14 62 0 ENST00000504120.2:c.305G>A p.Cys102Tyr p.C102Y ENST00000504120 NM_018900.2 102 tGc/tAc 0 -PCDHA1 UCSF GRCh37 5 140167511 140167511 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 4 27 0 ENST00000504120.2:c.1636G>A p.Gly546Ser p.G546S ENST00000504120 NM_018900.2 546 Ggc/Agc 0 -PCDHA4 UCSF GRCh37 5 140187587 140187587 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 208 30 346 0 ENST00000530339.1:c.815G>A p.Gly272Glu p.G272E ENST00000530339 NM_018907.2 272 gGa/gAa 0 -PCDHGA2 UCSF GRCh37 5 140720468 140720468 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 8 97 0 ENST00000394576.2:c.1930G>A p.Val644Met p.V644M ENST00000394576 NM_018915.2 644 Gtg/Atg 0 -PCDHGA2 UCSF GRCh37 5 140720761 140720761 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 22 80 0 ENST00000394576.2:c.2223G>A p.Val741= p.V741= ENST00000394576 NM_018915.2 741 gtG/gtA 0 -PCDHGB4 UCSF GRCh37 5 140769026 140769026 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 16 137 0 ENST00000519479.1:c.1575C>T p.Ala525= p.A525= ENST00000519479 NM_003736.2 525 gcC/gcT 0 -PCDHGB6 UCSF GRCh37 5 140789693 140789693 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 10 94 0 ENST00000520790.1:c.1924C>T p.Leu642= p.L642= ENST00000520790 NM_018926.2 642 Ctg/Ttg 0 -PCK1 UCSF GRCh37 20 56138627 56138627 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 4 28 0 ENST00000319441.4:c.805G>A p.Gly269Ser p.G269S ENST00000319441 NM_002591.3 269 Ggt/Agt 0 -PCLO UCSF GRCh37 7 82583161 82583161 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 12 124 0 ENST00000333891.9:c.7108G>A p.Glu2370Lys p.E2370K ENST00000333891 NM_033026.5 2370 Gaa/Aaa 0 -PCNT UCSF GRCh37 21 47805859 47805859 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 12 66 0 ENST00000359568.5:c.3425C>T p.Ser1142Phe p.S1142F ENST00000359568 NM_006031.5 1142 tCc/tTc 0 -PCNX UCSF GRCh37 14 71572113 71572113 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 10 65 0 ENST00000304743.2:c.6257G>A p.Gly2086Glu p.G2086E ENST00000304743 NM_014982.2 2086 gGa/gAa 0 -PDCD6IP UCSF GRCh37 3 33853593 33853593 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 285 37 427 0 ENST00000457054.2:c.239C>T p.Pro80Leu p.P80L ENST00000457054 NM_013374.5 80 cCc/cTc 0 -PDCD6IP UCSF GRCh37 3 33896693 33896693 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 6 20 0 ENST00000457054.2:c.2076C>T p.Phe692= p.F692= ENST00000457054 NM_013374.5 692 ttC/ttT 0 -PDE2A UCSF GRCh37 11 72292464 72292464 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 9 39 0 ENST00000334456.5:c.1982C>T p.Ala661Val p.A661V ENST00000334456 NM_002599.4 661 gCc/gTc 0 -PDE2A UCSF GRCh37 11 72291938 72291938 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 18 90 0 ENST00000334456.5:c.2125G>C p.Val709Leu p.V709L ENST00000334456 NM_002599.4 709 Gtg/Ctg 0 -PDE8A UCSF GRCh37 15 85610248 85610248 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 15 148 0 ENST00000310298.4:c.247C>T p.Leu83Phe p.L83F ENST00000310298 83 Ctt/Ttt 0 -PDGFB UCSF GRCh37 22 39639950 39639950 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 20 124 0 ENST00000331163.6:c.19C>T p.Leu7Phe p.L7F ENST00000331163 NM_002608.2 7 Ctc/Ttc 0 -PDGFC UCSF GRCh37 4 157689065 157689065 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 23 283 0 ENST00000502773.1:c.781G>A p.Glu261Lys p.E261K ENST00000502773 NM_016205.2 261 Gaa/Aaa 0 -PDHA2 UCSF GRCh37 4 96762127 96762127 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 17 71 0 ENST00000295266.4:c.826G>A p.Gly276Arg p.G276R ENST00000295266 NM_005390.4 276 Ggg/Agg 0 -PDHB UCSF GRCh37 3 58416454 58416454 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 13 89 0 ENST00000302746.6:c.519G>A p.Lys173= p.K173= ENST00000302746 NM_000925.3 173 aaG/aaA 0 -PDHX UCSF GRCh37 11 34938345 34938345 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 6 50 0 ENST00000227868.4:c.143G>A p.Ser48Asn p.S48N ENST00000227868 48 aGc/aAc 0 -PDIA5 UCSF GRCh37 3 122808018 122808018 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 13 105 0 ENST00000316218.7:c.46G>A p.Val16Ile p.V16I ENST00000316218 NM_006810.3 16 Gtc/Atc 0 -PDLIM3 UCSF GRCh37 4 186435434 186435434 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 28 284 0 ENST00000284770.5:c.388G>A p.Gly130Ser p.G130S ENST00000284770 NM_014476.5 130 Ggc/Agc 0 -PDXDC1 UCSF GRCh37 16 15125643 15125643 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 7 94 0 ENST00000396410.4:c.1451G>A p.Ser484Asn p.S484N ENST00000396410 NM_015027.2 484 aGc/aAc 0 -PDZD7 UCSF GRCh37 10 102778682 102778682 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 6 89 0 ENST00000370215.3:c.1221C>T p.Arg407= p.R407= ENST00000370215 NM_024895.4 407 cgC/cgT 0 -PDZRN4 UCSF GRCh37 12 41967428 41967428 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 240 40 356 0 ENST00000402685.2:c.2847C>T p.His949= p.H949= ENST00000402685 NM_001164595.1 949 caC/caT 0 -PEAK1 UCSF GRCh37 15 77425452 77425452 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 91 275 0 ENST00000560626.2:c.3972G>A p.Trp1324Ter p.W1324* ENST00000560626 1324 tgG/tgA 0 -PEBP1 UCSF GRCh37 12 118577290 118577290 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 7 98 0 ENST00000261313.2:c.280G>A p.Gly94Ser p.G94S ENST00000261313 NM_002567.2 94 Ggc/Agc 0 -PEX6 UCSF GRCh37 6 42941759 42941759 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 390 71 524 0 ENST00000304611.8:c.1112G>A p.Ser371Asn p.S371N ENST00000304611 NM_000287.3 371 aGt/aAt 0 -PFKFB4 UCSF GRCh37 3 48587613 48587613 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 173 28 229 0 ENST00000232375.3:c.152G>A p.Gly51Asp p.G51D ENST00000232375 NM_004567.2 51 gGc/gAc 0 -PGBD2 UCSF GRCh37 1 249211522 249211522 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 370 51 540 0 ENST00000329291.5:c.739C>T p.Pro247Ser p.P247S ENST00000329291 NM_170725.2 247 Cct/Tct 0 -PGM2 UCSF GRCh37 4 37831716 37831716 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 12 91 0 ENST00000381967.4:c.212C>T p.Ser71Phe p.S71F ENST00000381967 NM_018290.3 71 tCt/tTt 0 -PHACTR3 UCSF GRCh37 20 58152623 58152623 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 15 120 0 ENST00000359926.3:c.60C>T p.Gly20= p.G20= ENST00000359926 NM_001199505.1 20 ggC/ggT 0 -PHACTR3 UCSF GRCh37 20 58330317 58330317 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 30 181 0 ENST00000371015.1:c.439C>T p.Leu147= p.L147= ENST00000371015 NM_080672.4 147 Ctg/Ttg 0 -PHF1 UCSF GRCh37 6 33382758 33382758 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 7 27 0 ENST00000374516.3:c.1076G>A p.Gly359Glu p.G359E ENST00000374516 NM_024165.2 359 gGa/gAa 0 -PHF12 UCSF GRCh37 17 27251136 27251136 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 188 30 257 0 ENST00000332830.4:c.506C>T p.Ser169Phe p.S169F ENST00000332830 NM_001033561.1 169 tCc/tTc 0 -PHF12 UCSF GRCh37 17 27240296 27240296 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 17 85 0 ENST00000332830.4:c.1294-1G>A p.X432_splice ENST00000332830 NM_001033561.1 0 -PHF19 UCSF GRCh37 9 123620309 123620309 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 188 30 256 0 ENST00000373896.3:c.1656G>A p.Gly552= p.G552= ENST00000373896 NM_015651.1 552 ggG/ggA 0 -PHF2 UCSF GRCh37 9 96407928 96407928 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 19 102 0 ENST00000359246.4:c.317C>T p.Ala106Val p.A106V ENST00000359246 NM_005392.3 106 gCc/gTc 0 -PHF20 UCSF GRCh37 20 34458943 34458943 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 19 142 0 ENST00000374012.3:c.989G>A p.Arg330Lys p.R330K ENST00000374012 330 aGg/aAg 0 -PHF8 UCSF GRCh37 X 54043128 54043128 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 23 81 0 ENST00000357988.5:c.604G>A p.Ala202Thr p.A202T ENST00000357988 NM_001184896.1 202 Gct/Act 0 -PHGDH UCSF GRCh37 1 120254733 120254733 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 22 138 0 ENST00000369409.4:c.88G>A p.Val30Met p.V30M ENST00000369409 NM_006623.3 30 Gtg/Atg 0 -PHKA2 UCSF GRCh37 X 18912438 18912438 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 16 132 0 ENST00000379942.4:c.3421G>A p.Val1141Met p.V1141M ENST00000379942 NM_000292.2 1141 Gtg/Atg 0 -PHKG1 UCSF GRCh37 7 56149333 56149333 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 4 25 0 ENST00000452681.2:c.1004G>A p.Gly335Glu p.G335E ENST00000452681 NM_001258459.1 335 gGg/gAg 0 -PI4KB UCSF GRCh37 1 151280276 151280276 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 13 89 0 ENST00000368875.2:c.992C>T p.Pro331Leu p.P331L ENST00000368875 NM_002651.2 331 cCt/cTt 0 -PIAS3 UCSF GRCh37 1 145578398 145578398 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 315 49 462 0 ENST00000393045.2:c.361C>T p.Gln121Ter p.Q121* ENST00000393045 NM_006099.3 121 Cag/Tag 0 -PIEZO2 UCSF GRCh37 18 10691261 10691261 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 12 113 0 ENST00000503781.3:c.6972C>T p.Thr2324= p.T2324= ENST00000503781 NM_022068.2 2324 acC/acT 0 -PIGL UCSF GRCh37 17 16120652 16120652 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 27 205 0 ENST00000225609.5:c.112G>A p.Gly38Arg p.G38R ENST00000225609 NM_004278.3 38 Gga/Aga 0 -PIGZ UCSF GRCh37 3 196674425 196674425 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 7 54 0 ENST00000412723.1:c.1343C>T p.Ala448Val p.A448V ENST00000412723 NM_025163.3 448 gCc/gTc 0 -PIK3C2A UCSF GRCh37 11 17172087 17172087 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 23 262 1 ENST00000265970.7:c.1285G>A p.Asp429Asn p.D429N ENST00000265970 NM_002645.2 429 Gac/Aac 0 -PIK3R1 UCSF GRCh37 5 67522637 67522637 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 132 23 196 0 ENST00000274335.5:c.134G>A p.Gly45Glu p.G45E ENST00000274335 45 gGa/gAa 0 -PIK3R4 UCSF GRCh37 3 130398229 130398229 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 66 198 0 ENST00000356763.3:c.4007C>T p.Ala1336Val p.A1336V ENST00000356763 NM_014602.2 1336 gCc/gTc 0 -PITPNM3 UCSF GRCh37 17 6406878 6406878 + synonymous_variant Silent SNP C C A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 12 56 0 ENST00000262483.8:c.243G>T p.Pro81= p.P81= ENST00000262483 NM_031220.3 81 ccG/ccT 0 -PKD1 UCSF GRCh37 16 2142185 2142185 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 12 96 0 ENST00000262304.4:c.11274C>T p.Leu3758= p.L3758= ENST00000262304 NM_001009944.2 3758 ctC/ctT 0 -PKHD1L1 UCSF GRCh37 8 110535461 110535461 + splice_acceptor_variant Splice_Site SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 15 54 0 ENST00000378402.5:c.12331-1G>T p.X4111_splice ENST00000378402 NM_177531.4 0 -PKIG UCSF GRCh37 20 43243344 43243344 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 8 45 0 ENST00000372889.1:c.147G>A p.Gly49= p.G49= ENST00000372889 NM_001281444.1 49 ggG/ggA 0 -PKN2 UCSF GRCh37 1 89298952 89298952 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 33 300 0 ENST00000370521.3:c.2776G>A p.Asp926Asn p.D926N ENST00000370521 NM_006256.2 926 Gac/Aac 0 -PKP1 UCSF GRCh37 1 201292273 201292273 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 5 53 0 ENST00000263946.3:c.1699G>A p.Ala567Thr p.A567T ENST00000263946 NM_000299.3 567 Gcc/Acc 0 -PKP4 UCSF GRCh37 2 159498999 159498999 + missense_variant,splice_region_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 5 41 0 ENST00000389759.3:c.1697T>C p.Val566Ala p.V566A ENST00000389759 NM_003628.3 566 gTg/gCg 0 -PLB1 UCSF GRCh37 2 28823694 28823694 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 12 79 0 ENST00000327757.5:c.2493C>T p.Val831= p.V831= ENST00000327757 NM_153021.4 831 gtC/gtT 0 -PLBD2 UCSF GRCh37 12 113806940 113806940 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 20 186 0 ENST00000280800.3:c.310G>A p.Gly104Ser p.G104S ENST00000280800 NM_173542.3 104 Ggc/Agc 0 -PLCD3 UCSF GRCh37 17 43194151 43194151 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 6 44 0 ENST00000322765.5:c.1261C>T p.Leu421= p.L421= ENST00000322765 NM_133373.3 421 Ctg/Ttg 0 -PLCD4 UCSF GRCh37 2 219496999 219496999 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 3 31 0 ENST00000450993.2:c.1413C>T p.Pro471= p.P471= ENST00000450993 NM_032726.3 471 ccC/ccT 0 -PLCH2 UCSF GRCh37 1 2435776 2435776 + 3_prime_UTR_variant 3'UTR SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.0138 P24_Rec2 Untested WXS Illumina HiSeq 211 36 249 0 ENST00000449969.1:c.*710G>A *237* ENST00000449969 0 -PLD5 UCSF GRCh37 1 242271036 242271036 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 19 136 0 ENST00000536534.2:c.1176G>A p.Thr392= p.T392= ENST00000536534 392 acG/acA 0 -PLEC UCSF GRCh37 8 144996554 144996554 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 6 61 0 ENST00000322810.4:c.7846G>A p.Val2616Met p.V2616M ENST00000322810 NM_201380.2 2616 Gtg/Atg 0 -PLEC UCSF GRCh37 8 145003922 145003922 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 82 0 ENST00000322810.4:c.3226G>A p.Asp1076Asn p.D1076N ENST00000322810 NM_201380.2 1076 Gac/Aac 0 -PLEKHA7 UCSF GRCh37 11 16823347 16823347 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 8 42 0 ENST00000355661.3:c.2175G>A p.Val725= p.V725= ENST00000355661 725 gtG/gtA 0 -PLEKHA8 UCSF GRCh37 7 30118238 30118238 + missense_variant Missense_Mutation SNP T T G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 61 170 0 ENST00000449726.1:c.1395T>G p.Asp465Glu p.D465E ENST00000449726 NM_001197027.1 465 gaT/gaG 0 -PLEKHG4 UCSF GRCh37 16 67318226 67318226 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 22 212 0 ENST00000360461.5:c.1558G>A p.Glu520Lys p.E520K ENST00000360461 NM_001129727.1 520 Gag/Aag 0 -PLEKHG5 UCSF GRCh37 1 6579521 6579521 + downstream_gene_variant 3'Flank SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 17 141 0 ENST00000377705 NM_024654.4 0 -PLEKHH1 UCSF GRCh37 14 68029130 68029130 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 28 195 0 ENST00000329153.5:c.782G>A p.Arg261Lys p.R261K ENST00000329153 NM_020715.2 261 aGa/aAa 0 -PLEKHJ1 UCSF GRCh37 19 2235921 2235921 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 23 134 0 ENST00000589097.1:c.162+1G>A p.X54_splice ENST00000589097 0 -PLEKHM1 UCSF GRCh37 17 43555292 43555292 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 4 34 0 ENST00000430334.3:c.270G>A p.Trp90Ter p.W90* ENST00000430334 NM_014798.2 90 tgG/tgA 0 -PLEKHM2 UCSF GRCh37 1 16054173 16054173 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 13 104 0 ENST00000375799.3:c.1606G>A p.Glu536Lys p.E536K ENST00000375799 NM_015164.2 536 Gag/Aag 0 -PLIN4 UCSF GRCh37 19 4512416 4512416 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 200 79 259 0 ENST00000301286.3:c.1514C>T p.Thr505Ile p.T505I ENST00000301286 NM_001080400.1 505 aCc/aTc 0 -PLIN4 UCSF GRCh37 19 4504779 4504779 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 16 75 0 ENST00000301286.3:c.3766C>T p.Leu1256= p.L1256= ENST00000301286 NM_001080400.1 1256 Ctg/Ttg 0 -PLXNA2 UCSF GRCh37 1 208272276 208272276 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 14 83 0 ENST00000367033.3:c.1646C>T p.Pro549Leu p.P549L ENST00000367033 NM_025179.3 549 cCt/cTt 0 -PLXNA4 UCSF GRCh37 7 131888179 131888179 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 16 117 0 ENST00000359827.3:c.2299-1G>A p.X767_splice ENST00000359827 0 -PLXNB3 UCSF GRCh37 X 153040007 153040007 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 31 132 0 ENST00000538966.1:c.3880C>T p.Leu1294Phe p.L1294F ENST00000538966 NM_001163257.1 1294 Ctc/Ttc 0 -PLXNB3 UCSF GRCh37 X 153041605 153041605 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 6 35 0 ENST00000538966.1:c.4734G>A p.Val1578= p.V1578= ENST00000538966 NM_001163257.1 1578 gtG/gtA 0 -PNPLA6 UCSF GRCh37 19 7616255 7616255 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 12 82 0 ENST00000414982.3:c.2219C>T p.Thr740Ile p.T740I ENST00000414982 NM_001166111.1 740 aCc/aTc 0 -PNPO UCSF GRCh37 17 46023984 46023984 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 23 127 0 ENST00000225573.4:c.622G>A p.Gly208Ser p.G208S ENST00000225573 NM_018129.3 208 Ggc/Agc 0 -PODXL UCSF GRCh37 7 131196090 131196090 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 19 142 0 ENST00000378555.3:c.203C>T p.Thr68Ile p.T68I ENST00000378555 68 aCt/aTt 0 -POGLUT1 UCSF GRCh37 3 119196263 119196263 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 6 36 0 ENST00000295588.4:c.424G>A p.Glu142Lys p.E142K ENST00000295588 NM_152305.2 142 Gag/Aag 0 -POLD1 UCSF GRCh37 19 50918726 50918726 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 13 83 0 ENST00000440232.2:c.2596G>A p.Asp866Asn p.D866N ENST00000440232 NM_002691.3 866 Gac/Aac 0 -POLE UCSF GRCh37 12 133250267 133250267 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 195 30 252 0 ENST00000320574.5:c.1253C>T p.Pro418Leu p.P418L ENST00000320574 NM_006231.2 418 cCt/cTt 0 -POLG UCSF GRCh37 15 89859994 89859994 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 114 349 0 ENST00000268124.5:c.3708G>A p.Gln1236= p.Q1236= ENST00000268124 NM_001126131.1 1236 caG/caA 0 -POLK UCSF GRCh37 5 74886260 74886260 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 11 85 0 ENST00000241436.4:c.1351C>T p.Leu451Phe p.L451F ENST00000241436 NM_016218.2 451 Ctt/Ttt 0 -POLQ UCSF GRCh37 3 121238772 121238772 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 4 41 0 ENST00000264233.5:c.1414C>T p.Leu472Phe p.L472F ENST00000264233 NM_199420.3 472 Ctt/Ttt 0 -POLQ UCSF GRCh37 3 121192275 121192275 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 184 33 296 0 ENST00000264233.5:c.6465G>A p.Lys2155= p.K2155= ENST00000264233 NM_199420.3 2155 aaG/aaA 0 -POLR1A UCSF GRCh37 2 86276299 86276299 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 8 65 0 ENST00000263857.6:c.2459C>T p.Thr820Ile p.T820I ENST00000263857 820 aCc/aTc 0 -POLR3B UCSF GRCh37 12 106786810 106786810 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 19 173 1 ENST00000228347.4:c.725C>T p.Ala242Val p.A242V ENST00000228347 NM_018082.5 242 gCc/gTc 0 -POLR3C UCSF GRCh37 1 145608438 145608438 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 253 42 345 0 ENST00000334163.3:c.369G>A p.Lys123= p.K123= ENST00000334163 NM_006468.6 123 aaG/aaA 0 -POLR3G UCSF GRCh37 5 89791543 89791543 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 198 22 350 0 ENST00000399107.1:c.297G>A p.Trp99Ter p.W99* ENST00000399107 NM_006467.2 99 tgG/tgA 0 -POLR3GL UCSF GRCh37 1 145457265 145457265 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 21 182 0 ENST00000369314.1:c.427G>A p.Asp143Asn p.D143N ENST00000369314 NM_032305.1 143 Gat/Aat 0 -POLRMT UCSF GRCh37 19 619040 619040 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 5 30 0 ENST00000588649.2:c.3224G>A p.Gly1075Asp p.G1075D ENST00000588649 NM_005035.3 1075 gGc/gAc 0 -PORCN UCSF GRCh37 X 48370884 48370884 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 17 64 0 ENST00000326194.6:c.544G>A p.Gly182Ser p.G182S ENST00000326194 NM_203475.1 182 Ggc/Agc 0 -POU1F1 UCSF GRCh37 3 87313588 87313588 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 17 164 0 ENST00000344265.3:c.367C>T p.Leu123Phe p.L123F ENST00000344265 NM_001122757.1 123 Ctt/Ttt 0 -POU2AF1 UCSF GRCh37 11 111225225 111225225 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 7 61 0 ENST00000393067.3:c.532C>T p.Pro178Ser p.P178S ENST00000393067 NM_006235.2 178 Ccg/Tcg 0 -POU2F1 UCSF GRCh37 1 167358932 167358932 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 88 267 0 ENST00000367866.2:c.921C>T p.Asp307= p.D307= ENST00000367866 NM_002697.3 307 gaC/gaT 0 -PPAP2C UCSF GRCh37 19 281472 281472 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 8 63 0 ENST00000327790.3:c.846G>A p.Leu282= p.L282= ENST00000327790 NM_177543.2 282 ctG/ctA 0 -PPAPDC2 UCSF GRCh37 9 4662876 4662876 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 14 136 0 ENST00000381883.2:c.501G>A p.Met167Ile p.M167I ENST00000381883 NM_203453.3 167 atG/atA 0 -PPARGC1A UCSF GRCh37 4 23814383 23814383 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 536 93 841 0 ENST00000264867.2:c.2006G>A p.Arg669Lys p.R669K ENST00000264867 NM_013261.3 669 aGg/aAg 0 -PPCS UCSF GRCh37 1 42925543 42925543 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 20 201 0 ENST00000372561.3:c.882G>A p.Lys294= p.K294= ENST00000372561 NM_024664.2 294 aaG/aaA 0 -PPIC UCSF GRCh37 5 122359692 122359692 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 194 34 279 0 ENST00000306442.4:c.517G>A p.Val173Met p.V173M ENST00000306442 NM_000943.4 173 Gtg/Atg 0 -PPIG UCSF GRCh37 2 170493243 170493243 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 7 77 0 ENST00000260970.3:c.1475G>A p.Arg492Lys p.R492K ENST00000260970 NM_004792.2 492 aGg/aAg 0 -PPL UCSF GRCh37 16 4934223 4934223 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 42 276 0 ENST00000345988.2:c.4433G>A p.Gly1478Glu p.G1478E ENST00000345988 NM_002705.4 1478 gGg/gAg 0 -PPL UCSF GRCh37 16 4945402 4945402 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 7 64 0 ENST00000345988.2:c.1102G>A p.Glu368Lys p.E368K ENST00000345988 NM_002705.4 368 Gag/Aag 0 -PPL UCSF GRCh37 16 4935581 4935581 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 477 61 577 0 ENST00000345988.2:c.3075C>T p.Gly1025= p.G1025= ENST00000345988 NM_002705.4 1025 ggC/ggT 0 -PPP1R10 UCSF GRCh37 6 30569755 30569755 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 11 81 0 ENST00000376511.2:c.2671G>A p.Gly891Arg p.G891R ENST00000376511 NM_002714.3 891 Ggg/Agg 0 -PPP1R12A UCSF GRCh37 12 80199970 80199970 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 5 48 0 ENST00000450142.2:c.1799C>T p.Ser600Phe p.S600F ENST00000450142 NM_002480.2 600 tCt/tTt 0 -PPP1R12C UCSF GRCh37 19 55603275 55603275 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 4 17 0 ENST00000263433.3:c.2163G>A p.Arg721= p.R721= ENST00000263433 NM_017607.3 721 agG/agA 0 -PPP1R1B UCSF GRCh37 17 37791937 37791937 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 19 113 0 ENST00000254079.4:c.523G>A p.Asp175Asn p.D175N ENST00000254079 NM_032192.3 175 Gat/Aat 0 -PPP1R1B UCSF GRCh37 17 37792068 37792068 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 197 29 274 0 ENST00000254079.4:c.566-1G>A p.X189_splice ENST00000254079 NM_032192.3 0 -PPP1R9A UCSF GRCh37 7 94539523 94539523 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 19 154 0 ENST00000433360.1:c.98C>T p.Thr33Ile p.T33I ENST00000433360 NM_001166160.1 33 aCc/aTc 0 -PPP2R1A UCSF GRCh37 19 52723488 52723488 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 25 180 0 ENST00000322088.6:c.1349G>A p.Trp450Ter p.W450* ENST00000322088 NM_014225.5 450 tGg/tAg 0 -PPP4R1 UCSF GRCh37 18 9550083 9550083 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 14 165 0 ENST00000400556.3:c.2514G>A p.Trp838Ter p.W838* ENST00000400556 NM_001042388.2 838 tgG/tgA 0 -PPP6R2 UCSF GRCh37 22 50860692 50860692 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 10 114 0 ENST00000395741.3:c.858C>T p.Gly286= p.G286= ENST00000395741 286 ggC/ggT 0 -PQLC1 UCSF GRCh37 18 77679347 77679347 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 12 36 0 ENST00000397778.2:c.445T>C p.Cys149Arg p.C149R ENST00000397778 NM_025078.4 149 Tgc/Cgc 0 -PQLC2 UCSF GRCh37 1 19652012 19652012 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 18 94 0 ENST00000375153.3:c.318C>T p.Val106= p.V106= ENST00000375153 NM_001040125.1 106 gtC/gtT 0 -PRAM1 UCSF GRCh37 19 8563584 8563584 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 19 178 0 ENST00000423345.4:c.1108C>T p.Pro370Ser p.P370S ENST00000423345 370 Ccg/Tcg 0 -PRB2 UCSF GRCh37 12 11546488 11546488 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 4 25 0 ENST00000389362.4:c.524C>T p.Ser175Phe p.S175F ENST00000389362 NM_006248.3 175 tCt/tTt 0 -PRDM1 UCSF GRCh37 6 106547225 106547225 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 9 75 0 ENST00000369096.4:c.462G>A p.Glu154= p.E154= ENST00000369096 NM_001198.3 154 gaG/gaA 0 -PRELID2 UCSF GRCh37 5 145198978 145198978 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 15 160 0 ENST00000334744.4:c.208-1G>A p.X70_splice ENST00000334744 NM_182960.2 0 -PREX1 UCSF GRCh37 20 47274678 47274678 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 366 251 686 0 ENST00000371941.3:c.1970C>T p.Ala657Val p.A657V ENST00000371941 NM_020820.3 657 gCt/gTt 0 -PRKAA2 UCSF GRCh37 1 57169883 57169883 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 377 58 544 0 ENST00000371244.4:c.1028C>T p.Ala343Val p.A343V ENST00000371244 NM_006252.3 343 gCc/gTc 0 -PRKAR2B UCSF GRCh37 7 106793633 106793633 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 18 214 0 ENST00000265717.4:c.855C>T p.Arg285= p.R285= ENST00000265717 NM_002736.2 285 cgC/cgT 0 -PRKCE UCSF GRCh37 2 46411943 46411943 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 252 148 555 0 ENST00000306156.3:c.2137G>A p.Asp713Asn p.D713N ENST00000306156 NM_005400.2 713 Gac/Aac 0 -PRKCE UCSF GRCh37 2 45879539 45879539 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 6 41 0 ENST00000306156.3:c.300C>T p.Ile100= p.I100= ENST00000306156 NM_005400.2 100 atC/atT 0 -PRKD2 UCSF GRCh37 19 47207845 47207845 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 155 28 163 0 ENST00000433867.1:c.573C>T p.Ala191= p.A191= ENST00000433867 NM_001079881.1 191 gcC/gcT 0 -PRKDC UCSF GRCh37 8 48746825 48746825 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 17 118 0 ENST00000314191.2:c.8081C>T p.Ser2694Leu p.S2694L ENST00000314191 NM_006904.6 2694 tCa/tTa 0 -PRKDC UCSF GRCh37 8 48686847 48686847 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 20 204 0 ENST00000314191.2:c.12271C>T p.Gln4091Ter p.Q4091* ENST00000314191 NM_006904.6 4091 Caa/Taa 0 -PRKX UCSF GRCh37 X 3631222 3631222 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 11 4 14 0 ENST00000262848.5:c.73G>A p.Asp25Asn p.D25N ENST00000262848 NM_005044.4 25 Gac/Aac 0 -PRMT5 UCSF GRCh37 14 23393582 23393582 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 155 27 216 0 ENST00000324366.8:c.1096G>A p.Ala366Thr p.A366T ENST00000324366 NM_006109.3 366 Gca/Aca 0 -PRMT6 UCSF GRCh37 1 107599844 107599844 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 18 144 0 ENST00000370078.1:c.507C>T p.Ser169= p.S169= ENST00000370078 169 tcC/tcT 0 -PRMT7 UCSF GRCh37 16 68349966 68349966 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 3 78 0 ENST00000339507.5:c.84G>A p.Gln28= p.Q28= ENST00000339507 28 caG/caA 0 -PRODH2 UCSF GRCh37 19 36303727 36303727 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 10 96 0 ENST00000301175.3:c.209G>A p.Gly70Glu p.G70E ENST00000301175 NM_021232.1 70 gGa/gAa 0 -PRODH2 UCSF GRCh37 19 36303717 36303717 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 17 101 0 ENST00000301175.3:c.219G>A p.Gln73= p.Q73= ENST00000301175 NM_021232.1 73 caG/caA 0 -PROS1 UCSF GRCh37 3 93595954 93595954 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 28 222 0 ENST00000394236.3:c.1726G>A p.Glu576Lys p.E576K ENST00000394236 NM_000313.3 576 Gaa/Aaa 0 -PROSER1 UCSF GRCh37 13 39586978 39586978 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 9 57 0 ENST00000352251.3:c.2411C>T p.Pro804Leu p.P804L ENST00000352251 NM_025138.4 804 cCc/cTc 0 -PROX1 UCSF GRCh37 1 214170574 214170574 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 17 98 0 ENST00000366958.4:c.696G>A p.Lys232= p.K232= ENST00000366958 NM_001270616.1 232 aaG/aaA 0 -PRPH UCSF GRCh37 12 49690754 49690754 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 13 36 0 ENST00000257860.4:c.785C>T p.Thr262Met p.T262M ENST00000257860 NM_006262.3 262 aCg/aTg 0 -PRR11 UCSF GRCh37 17 57272127 57272127 + synonymous_variant Silent SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 32 91 0 ENST00000262293.4:c.655T>C p.Leu219= p.L219= ENST00000262293 NM_018304.3 219 Tta/Cta 0 -PRR12 UCSF GRCh37 19 50098074 50098074 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 237 36 364 0 ENST00000418929.2:c.482C>T p.Pro161Leu p.P161L ENST00000418929 NM_020719.1 161 cCc/cTc 0 -PRR14L UCSF GRCh37 22 32081545 32081545 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 360 65 583 1 ENST00000327423.6:c.6424G>A p.Glu2142Lys p.E2142K ENST00000327423 NM_173566.2 2142 Gaa/Aaa 0 -PRR5L UCSF GRCh37 11 36458955 36458955 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 366 68 534 0 ENST00000378867.3:c.373C>T p.Leu125= p.L125= ENST00000378867 NM_024841.4 125 Ctg/Ttg 0 -PRRC2A UCSF GRCh37 6 31593028 31593028 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 22 187 0 ENST00000376033.2:c.544G>A p.Ala182Thr p.A182T ENST00000376033 NM_004638.3 182 Gct/Act 0 -PRRC2C UCSF GRCh37 1 171535927 171535927 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 12 142 0 ENST00000338920.4:c.6497C>T p.Thr2166Ile p.T2166I ENST00000338920 NM_015172.3 2166 aCt/aTt 0 -PRRC2C UCSF GRCh37 1 171509943 171509943 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 44 289 0 ENST00000338920.4:c.3332G>A p.Ser1111Asn p.S1111N ENST00000338920 NM_015172.3 1111 aGt/aAt 0 -PRRT3 UCSF GRCh37 3 9987933 9987933 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 23 151 0 ENST00000412055.1:c.2924C>T p.Ser975Phe p.S975F ENST00000412055 NM_207351.3 975 tCc/tTc 0 -PRRX1 UCSF GRCh37 1 170695366 170695366 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 29 190 0 ENST00000239461.6:c.423G>A p.Trp141Ter p.W141* ENST00000239461 NM_022716.2 141 tgG/tgA 0 -PRSS27 UCSF GRCh37 16 2764279 2764279 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 160 22 202 0 ENST00000302641.3:c.295G>A p.Gly99Arg p.G99R ENST00000302641 NM_031948.3 99 Gga/Aga 0 -PRSS36 UCSF GRCh37 16 31155070 31155070 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 161 19 200 0 ENST00000268281.4:c.809G>A p.Arg270Lys p.R270K ENST00000268281 NM_173502.4 270 aGa/aAa 0 -PRSS57 UCSF GRCh37 19 691942 691942 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 16 58 0 ENST00000329267.7:c.297C>T p.Thr99= p.T99= ENST00000329267 NM_214710.3 99 acC/acT 0 -PRUNE2 UCSF GRCh37 9 79323744 79323744 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 429 65 600 0 ENST00000376718.3:c.3446G>A p.Ser1149Asn p.S1149N ENST00000376718 NM_015225.2 1149 aGt/aAt 0 -PRUNE2 UCSF GRCh37 9 79320935 79320935 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 237 46 336 0 ENST00000376718.3:c.6255G>A p.Glu2085= p.E2085= ENST00000376718 NM_015225.2 2085 gaG/gaA 0 -PRX UCSF GRCh37 19 40899917 40899917 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 4 31 0 ENST00000324001.7:c.4342C>T p.Pro1448Ser p.P1448S ENST00000324001 NM_181882.2 1448 Cca/Tca 0 -PSD UCSF GRCh37 10 104172277 104172277 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 18 176 0 ENST00000020673.5:c.1609G>A p.Glu537Lys p.E537K ENST00000020673 NM_001270966.1 537 Gag/Aag 0 -PSD2 UCSF GRCh37 5 139189372 139189372 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 22 84 0 ENST00000274710.3:c.347C>T p.Pro116Leu p.P116L ENST00000274710 NM_032289.2 116 cCa/cTa 0 -PSEN2 UCSF GRCh37 1 227083262 227083262 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 42 210 0 ENST00000366783.3:c.1329C>T p.Ser443= p.S443= ENST00000366783 NM_000447.2 443 tcC/tcT 0 -PSMB5 UCSF GRCh37 14 23502717 23502717 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 235 35 315 0 ENST00000361611.6:c.365G>A p.Cys122Tyr p.C122Y ENST00000361611 NM_002797.3 122 tGt/tAt 0 -PSMB6 UCSF GRCh37 17 4700831 4700831 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 36 250 1 ENST00000270586.3:c.269C>T p.Ala90Val p.A90V ENST00000270586 NM_002798.2 90 gCt/gTt 0 -PSMD3 UCSF GRCh37 17 38146367 38146367 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 7 23 0 ENST00000264639.4:c.898C>T p.Leu300= p.L300= ENST00000264639 NM_002809.3 300 Ctg/Ttg 0 -PSPC1 UCSF GRCh37 13 20325505 20325505 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 19 97 0 ENST00000338910.4:c.873G>A p.Glu291= p.E291= ENST00000338910 NM_001042414.2 291 gaG/gaA 0 -PSTPIP1 UCSF GRCh37 15 77328155 77328155 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 17 84 0 ENST00000558012.1:c.998C>T p.Thr333Ile p.T333I ENST00000558012 NM_003978.3 333 aCc/aTc 0 -PTAR1 UCSF GRCh37 9 72374784 72374784 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 15 119 0 ENST00000340434.4:c.71G>A p.Arg24Lys p.R24K ENST00000340434 NM_001099666.1 24 aGg/aAg 0 -PTBP2 UCSF GRCh37 1 97217025 97217025 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 10 110 0 ENST00000426398.2:c.84G>A p.Pro28= p.P28= ENST00000426398 NM_021190.2 28 ccG/ccA 0 -PTCH1 UCSF GRCh37 9 98222034 98222034 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 15 90 0 ENST00000331920.6:c.2735G>A p.Gly912Asp p.G912D ENST00000331920 NM_000264.3 912 gGc/gAc 0 -PTEN UCSF GRCh37 10 89692877 89692877 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 146 49 394 0 ENST00000371953.3:c.361G>A p.Ala121Thr p.A121T ENST00000371953 NM_000314.4 121 Gca/Aca 0 -PTEN UCSF GRCh37 10 89711875 89711875 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 somatic WXS Sanger Illumina HiSeq 49 15 134 0 ENST00000371953.3:c.493G>A p.Gly165Arg p.G165R ENST00000371953 NM_000314.4 165 Gga/Aga 0 -PTGDR UCSF GRCh37 14 52735256 52735256 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 211 45 319 0 ENST00000306051.2:c.724G>A p.Asp242Asn p.D242N ENST00000306051 NM_000953.2 242 Gac/Aac 0 -PTK2B UCSF GRCh37 8 27287616 27287616 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 617 78 603 0 ENST00000397501.1:c.558C>T p.Phe186= p.F186= ENST00000397501 NM_173174.2 186 ttC/ttT 0 -PTPDC1 UCSF GRCh37 9 96860280 96860280 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 197 25 296 0 ENST00000288976.3:c.1426C>T p.Pro476Ser p.P476S ENST00000288976 NM_001253829.1 476 Ccc/Tcc 0 -PTPN14 UCSF GRCh37 1 214557450 214557450 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 25 128 0 ENST00000366956.5:c.1748C>T p.Ala583Val p.A583V ENST00000366956 NM_005401.4 583 gCc/gTc 0 -PTPN21 UCSF GRCh37 14 88946277 88946277 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.000,1000g2011may_all_0.0020 P24_Rec2 Untested WXS Illumina HiSeq 67 14 71 0 ENST00000556564.1:c.1498G>A p.Ala500Thr p.A500T ENST00000556564 NM_007039.3 500 Gca/Aca 0 -PTPN23 UCSF GRCh37 3 47451032 47451032 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 12 92 0 ENST00000265562.4:c.1923G>A p.Arg641= p.R641= ENST00000265562 NM_015466.2 641 cgG/cgA 0 -PTPRD UCSF GRCh37 9 8485797 8485797 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 10 87 0 ENST00000356435.5:c.3020C>T p.Pro1007Leu p.P1007L ENST00000356435 1007 cCc/cTc 0 -PTPRH UCSF GRCh37 19 55693383 55693383 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 337 61 511 0 ENST00000376350.3:c.3198+1G>A p.X1066_splice ENST00000376350 NM_002842.3 0 -PTPRH UCSF GRCh37 19 55715304 55715304 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 37 262 0 ENST00000376350.3:c.732G>A p.Gln244= p.Q244= ENST00000376350 NM_002842.3 244 caG/caA 0 -PTPRM UCSF GRCh37 18 8069855 8069855 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 24 186 0 ENST00000580170.1:c.1304G>A p.Trp435Ter p.W435* ENST00000580170 NM_001105244.1 435 tGg/tAg 0 -PUM1 UCSF GRCh37 1 31425201 31425201 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 5 58 0 ENST00000426105.2:c.2601G>A p.Gln867= p.Q867= ENST00000426105 867 caG/caA 0 -PUS7 UCSF GRCh37 7 105148954 105148954 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 67 203 0 ENST00000356362.2:c.6G>A p.Glu2= p.E2= ENST00000356362 NM_019042.3 2 gaG/gaA 0 -PUS7 UCSF GRCh37 7 105105815 105105815 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 59 226 0 ENST00000356362.2:c.1572C>T p.Ile524= p.I524= ENST00000356362 NM_019042.3 524 atC/atT 0 -PUSL1 UCSF GRCh37 1 1244534 1244534 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 19 144 0 ENST00000379031.5:c.204G>A p.Gly68= p.G68= ENST00000379031 NM_153339.1 68 ggG/ggA 0 -PVRL4 UCSF GRCh37 1 161042643 161042643 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 171 24 225 0 ENST00000368012.3:c.1341G>A p.Thr447= p.T447= ENST00000368012 NM_030916.2 447 acG/acA 0 -PXN UCSF GRCh37 12 120661972 120661972 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 15 114 0 ENST00000267257.7:c.222C>T p.Ser74= p.S74= ENST00000267257 NM_001243756.1 74 tcC/tcT 0 -PYCARD UCSF GRCh37 16 31212947 31212947 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 12 86 0 ENST00000247470.9:c.547G>A p.Glu183Lys p.E183K ENST00000247470 NM_013258.4 183 Gag/Aag 0 -QRICH1 UCSF GRCh37 3 49095184 49095184 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 30 213 0 ENST00000395443.2:c.449C>T p.Ser150Phe p.S150F ENST00000395443 NM_198880.1 150 tCc/tTc 0 -RAB11B UCSF GRCh37 19 8467013 8467013 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 9 74 0 ENST00000328024.6:c.280G>A p.Ala94Thr p.A94T ENST00000328024 NM_004218.3 94 Gcc/Acc 0 -RAB25 UCSF GRCh37 1 156040048 156040048 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 263 49 341 0 ENST00000361084.5:c.612G>A p.Gly204= p.G204= ENST00000361084 NM_020387.2 204 ggG/ggA 0 -RAB33B UCSF GRCh37 4 140394125 140394125 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 9 216 0 ENST00000305626.5:c.535G>A p.Ala179Thr p.A179T ENST00000305626 NM_031296.1 179 Gct/Act 0 -RAB39 UCSF GRCh37 11 107832857 107832857 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 30 256 0 ENST00000320578.2:c.413C>T p.Thr138Ile p.T138I ENST00000320578 NM_017516.1 138 aCa/aTa 0 -RAB41 UCSF GRCh37 X 69502395 69502395 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 62 108 0 ENST00000276066.4:c.134C>T p.Ser45Phe p.S45F ENST00000276066 NM_001032726.2 45 tCc/tTc 0 -RAB6A UCSF GRCh37 11 73441816 73441816 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 11 42 0 ENST00000310653.6:c.123C>T p.Thr41= p.T41= ENST00000310653 NM_002869.4 41 acC/acT 0 -RAB7A UCSF GRCh37 3 128514235 128514235 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 23 161 0 ENST00000265062.3:c.25C>T p.Leu9= p.L9= ENST00000265062 NM_004637.5 9 Ctg/Ttg 0 -RAB8A UCSF GRCh37 19 16229055 16229055 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 12 107 0 ENST00000300935.3:c.144G>A p.Arg48= p.R48= ENST00000300935 NM_005370.4 48 agG/agA 0 -RAB9B UCSF GRCh37 X 103080138 103080138 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 29 129 0 ENST00000243298.2:c.577G>A p.Gly193Ser p.G193S ENST00000243298 NM_016370.2 193 Ggc/Agc 0 -RAB9B UCSF GRCh37 X 103080687 103080687 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 14 195 0 ENST00000243298.2:c.28G>A p.Val10Ile p.V10I ENST00000243298 NM_016370.2 10 Gtc/Atc 0 -RABEP1 UCSF GRCh37 17 5253909 5253909 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 149 21 257 0 ENST00000262477.6:c.948G>A p.Leu316= p.L316= ENST00000262477 NM_004703.4 316 ctG/ctA 0 -RAD52 UCSF GRCh37 12 1042140 1042140 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 333 47 381 0 ENST00000358495.3:c.84+1G>A p.X28_splice ENST00000358495 NM_134424.2 0 -RADIL UCSF GRCh37 7 4841284 4841284 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 3 23 0 ENST00000399583.3:c.2842G>A p.Gly948Arg p.G948R ENST00000399583 NM_018059.4 948 Gga/Aga 0 -RAET1G UCSF GRCh37 6 150239357 150239357 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 16 87 0 ENST00000367360.2:c.795C>T p.Pro265= p.P265= ENST00000367360 NM_001001788.2 265 ccC/ccT 0 -RAG1 UCSF GRCh37 11 36596534 36596534 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 12 108 0 ENST00000299440.5:c.1680C>T p.Phe560= p.F560= ENST00000299440 NM_000448.2 560 ttC/ttT 0 -RAI14 UCSF GRCh37 5 34823332 34823332 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 28 260 0 ENST00000515799.1:c.1394G>A p.Arg465Gln p.R465Q ENST00000515799 NM_001145525.1 465 cGa/cAa 0 -RALGAPA2 UCSF GRCh37 20 20506958 20506958 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 15 149 0 ENST00000202677.7:c.3631C>T p.Leu1211= p.L1211= ENST00000202677 NM_020343.3 1211 Ctg/Ttg 0 -RAPGEF5 UCSF GRCh37 7 22186635 22186635 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 428 54 456 0 ENST00000344041.6:c.1428C>T p.Asn476= p.N476= ENST00000344041 NM_012294.3 476 aaC/aaT 0 -RARS UCSF GRCh37 5 167944905 167944905 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 19 229 0 ENST00000231572.3:c.1711G>A p.Glu571Lys p.E571K ENST00000231572 NM_002887.3 571 Gaa/Aaa 0 -RASAL3 UCSF GRCh37 19 15564017 15564017 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 14 104 0 ENST00000343625.7:c.2571C>T p.Ser857= p.S857= ENST00000343625 NM_022904.1 857 tcC/tcT 0 -RASGRF1 UCSF GRCh37 15 79307703 79307703 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 13 160 0 ENST00000419573.3:c.1792G>A p.Glu598Lys p.E598K ENST00000419573 NM_002891.4 598 Gaa/Aaa 0 -RASGRF2 UCSF GRCh37 5 80366380 80366380 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 13 129 0 ENST00000265080.4:c.613G>A p.Asp205Asn p.D205N ENST00000265080 NM_006909.2 205 Gac/Aac 0 -RASGRF2 UCSF GRCh37 5 80497218 80497218 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 12 169 0 ENST00000265080.4:c.2863G>A p.Asp955Asn p.D955N ENST00000265080 NM_006909.2 955 Gac/Aac 0 -RASGRP3 UCSF GRCh37 2 33774715 33774715 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 233 26 333 0 ENST00000403687.3:c.1439G>A p.Arg480Lys p.R480K ENST00000403687 NM_001139488.1 480 aGa/aAa 0 -RASGRP4 UCSF GRCh37 19 38900712 38900712 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 17 118 0 ENST00000587738.1:c.1990C>T p.Pro664Ser p.P664S ENST00000587738 664 Cca/Tca 0 -RASSF2 UCSF GRCh37 20 4771121 4771121 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 91 14 148 0 ENST00000379400.3:c.513C>T p.Ile171= p.I171= ENST00000379400 NM_014737.2 171 atC/atT 0 -RB1CC1 UCSF GRCh37 8 53574101 53574101 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 10 68 0 ENST00000025008.5:c.1352G>A p.Arg451Lys p.R451K ENST00000025008 NM_014781.4 451 aGa/aAa 0 -RBBP7 UCSF GRCh37 X 16887659 16887659 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 61 86 0 ENST00000380084.4:c.106G>A p.Gly36Ser p.G36S ENST00000380084 NM_001198719.1 36 Ggt/Agt 0 -RBFOX1 UCSF GRCh37 16 7726800 7726800 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 31 227 0 ENST00000311745.5:c.1018G>A p.Ala340Thr p.A340T ENST00000311745 NM_145891.2 340 Gcc/Acc 0 -RBFOX2 UCSF GRCh37 22 36142030 36142030 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 8 82 0 ENST00000438146.2:c.1251G>A p.Val417= p.V417= ENST00000438146 NM_001082578.1 417 gtG/gtA 0 -RBL1 UCSF GRCh37 20 35635934 35635934 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 17 139 0 ENST00000373664.3:c.2751C>T p.Asp917= p.D917= ENST00000373664 NM_002895.3 917 gaC/gaT 0 -RBM12 UCSF GRCh37 20 34241786 34241786 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 339 82 588 0 ENST00000374114.3:c.1459G>A p.Ala487Thr p.A487T ENST00000374114 NM_001198838.1 487 Gct/Act 0 -RBM14 UCSF GRCh37 11 66393129 66393129 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 13 22 0 ENST00000310137.4:c.1782G>A p.Lys594= p.K594= ENST00000310137 NM_006328.3 594 aaG/aaA 0 -RBM15 UCSF GRCh37 1 110882844 110882844 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 25 175 0 ENST00000369784.3:c.817G>A p.Val273Ile p.V273I ENST00000369784 NM_022768.4 273 Gtc/Atc 0 -RBM15 UCSF GRCh37 1 110888949 110888949 + 3_prime_UTR_variant 3'UTR SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 11 114 0 ENST00000369784.3:c.*60G>A *20* ENST00000369784 NM_022768.4 0 -RBM15B UCSF GRCh37 3 51431474 51431474 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 20 233 0 ENST00000323686.4:c.2644G>A p.Val882Met p.V882M ENST00000323686 NM_013286.4 882 Gtg/Atg 0 -RBM19 UCSF GRCh37 12 114282513 114282513 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 5 32 0 ENST00000545145.2:c.2745C>T p.Thr915= p.T915= ENST00000545145 NM_001146699.1 915 acC/acT 0 -RBM20 UCSF GRCh37 10 112570210 112570210 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 12 65 0 ENST00000369519.3:c.1870G>A p.Glu624Lys p.E624K ENST00000369519 NM_001134363.1 624 Gaa/Aaa 0 -RBM45 UCSF GRCh37 2 178981094 178981094 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 22 233 0 ENST00000286070.5:c.406C>T p.Leu136= p.L136= ENST00000286070 NM_152945.2 136 Ctg/Ttg 0 -RBM47 UCSF GRCh37 4 40438596 40438596 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 448 66 693 0 ENST00000381793.2:c.1192C>T p.Leu398Phe p.L398F ENST00000381793 398 Ctc/Ttc 0 -RBMS3 UCSF GRCh37 3 29323205 29323205 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 11 91 0 ENST00000383767.2:c.33C>T p.Tyr11= p.Y11= ENST00000383767 11 taC/taT 0 -RBPJ UCSF GRCh37 4 26431661 26431661 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 33 137 0 ENST00000342295.1:c.1069G>A p.Val357Ile p.V357I ENST00000342295 NM_005349.3 357 Gta/Ata 0 -RBPJL UCSF GRCh37 20 43943147 43943147 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 11 4 32 0 ENST00000343694.3:c.962C>T p.Pro321Leu p.P321L ENST00000343694 NM_001281449.1 321 cCc/cTc 0 -RC3H1 UCSF GRCh37 1 173916628 173916628 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 26 161 0 ENST00000367696.2:c.2616C>T p.Asp872= p.D872= ENST00000367696 872 gaC/gaT 0 -RDBP UCSF GRCh37 6 31922509 31922509 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 479 86 601 0 ENST00000375429.3:c.565G>A p.Asp189Asn p.D189N ENST00000375429 NM_002904.5 189 Gac/Aac 0 -RDBP UCSF GRCh37 6 31922869 31922869 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 190 43 338 0 ENST00000375429.3:c.371C>T p.Ser124Phe p.S124F ENST00000375429 NM_002904.5 124 tCc/tTc 0 -RDX UCSF GRCh37 11 110150413 110150413 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 12 101 0 ENST00000405097.1:c.5C>T p.Pro2Leu p.P2L ENST00000405097 NM_001260492.1 2 cCg/cTg 0 -RELN UCSF GRCh37 7 103230049 103230049 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 29 176 0 ENST00000428762.1:c.4139C>T p.Ala1380Val p.A1380V ENST00000428762 NM_005045.3 1380 gCa/gTa 0 -REPIN1 UCSF GRCh37 7 150068904 150068904 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 224 26 186 0 ENST00000489432.2:c.745C>T p.Leu249= p.L249= ENST00000489432 NM_001099695.1 249 Cta/Tta 0 -RERE UCSF GRCh37 1 8422742 8422742 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 27 349 0 ENST00000337907.3:c.1902+1G>A p.X634_splice ENST00000337907 NM_012102.3 0 -RET UCSF GRCh37 10 43608383 43608383 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 6 76 0 ENST00000355710.3:c.1731C>T p.Asp577= p.D577= ENST00000355710 NM_020975.4 577 gaC/gaT 0 -RET UCSF GRCh37 10 43610025 43610025 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 426 63 627 0 ENST00000355710.3:c.1977C>T p.Cys659= p.C659= ENST00000355710 NM_020975.4 659 tgC/tgT 0 -REV3L UCSF GRCh37 6 111737541 111737541 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 16 199 0 ENST00000358835.3:c.274G>A p.Gly92Ser p.G92S ENST00000358835 92 Ggc/Agc 0 -RFC4 UCSF GRCh37 3 186512468 186512468 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 16 131 0 ENST00000392481.2:c.389C>T p.Thr130Ile p.T130I ENST00000392481 NM_181573.2 130 aCt/aTt 0 -RFNG UCSF GRCh37 17 80009379 80009379 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 3 29 0 ENST00000310496.4:c.264G>A p.Gln88= p.Q88= ENST00000310496 NM_002917.1 88 caG/caA 0 -RFTN2 UCSF GRCh37 2 198436747 198436747 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 542 78 743 0 ENST00000295049.4:c.1491G>A p.Gln497= p.Q497= ENST00000295049 NM_144629.2 497 caG/caA 0 -RFX6 UCSF GRCh37 6 117199071 117199071 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 7 72 0 ENST00000332958.2:c.336G>A p.Gln112= p.Q112= ENST00000332958 NM_173560.3 112 caG/caA 0 -RFX7 UCSF GRCh37 15 56435004 56435004 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 16 140 0 ENST00000423270.1:c.373C>T p.Pro125Ser p.P125S ENST00000423270 NM_022841.5 125 Ccc/Tcc 0 -RGS18 UCSF GRCh37 1 192153595 192153595 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 81 324 0 ENST00000367460.3:c.619C>T p.Gln207Ter p.Q207* ENST00000367460 NM_130782.2 207 Cag/Tag 0 -RHAG UCSF GRCh37 6 49587023 49587023 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 3 33 0 ENST00000371175.4:c.210C>T p.Thr70= p.T70= ENST00000371175 NM_000324.2 70 acC/acT 0 -RHOT2 UCSF GRCh37 16 718393 718393 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 71 203 0 ENST00000315082.4:c.78C>T p.Gly26= p.G26= ENST00000315082 NM_138769.2 26 ggC/ggT 0 -RHOXF1 UCSF GRCh37 X 119249374 119249374 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 13 83 0 ENST00000217999.2:c.398+1G>A p.X133_splice ENST00000217999 NM_139282.2 0 -RHPN1 UCSF GRCh37 8 144460959 144460959 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 139 356 0 ENST00000289013.6:c.553C>T p.Pro185Ser p.P185S ENST00000289013 NM_052924.2 185 Cct/Tct 0 -RICTOR UCSF GRCh37 5 38957753 38957753 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 190 35 322 0 ENST00000357387.3:c.2499+1G>A p.X833_splice ENST00000357387 NM_152756.3 0 -RICTOR UCSF GRCh37 5 38952427 38952427 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 281 41 397 0 ENST00000357387.3:c.2998C>T p.Leu1000= p.L1000= ENST00000357387 NM_152756.3 1000 Ctg/Ttg 0 -RIMBP2 UCSF GRCh37 12 130963546 130963546 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 7 64 0 ENST00000261655.4:c.13G>A p.Ala5Thr p.A5T ENST00000261655 NM_015347.4 5 Gct/Act 0 -RLF UCSF GRCh37 1 40661304 40661304 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 14 67 0 ENST00000372771.4:c.475G>A p.Glu159Lys p.E159K ENST00000372771 NM_012421.3 159 Gag/Aag 0 -RMI1 UCSF GRCh37 9 86617385 86617385 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 293 55 430 1 ENST00000325875.3:c.1484C>T p.Ser495Phe p.S495F ENST00000325875 NM_024945.2 495 tCt/tTt 0 -RMT-ND1 UCSF GRCh37 12 49254849 49254849 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 10 72 0 ENST00000309739.5:c.384C>T p.Asp128= p.D128= ENST00000309739 NM_014470.3 128 gaC/gaT 0 -RNF126 UCSF GRCh37 19 650255 650255 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 13 25 0 ENST00000292363.5:c.485C>T p.Thr162Ile p.T162I ENST00000292363 NM_194460.2 162 aCc/aTc 0 -RNF144A UCSF GRCh37 2 7164616 7164616 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 23 192 0 ENST00000320892.6:c.626C>T p.Ala209Val p.A209V ENST00000320892 NM_014746.3 209 gCc/gTc 0 -RNF146 UCSF GRCh37 6 127608726 127608726 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 36 268 0 ENST00000368314.1:c.968C>T p.Pro323Leu p.P323L ENST00000368314 NM_001242850.1 323 cCc/cTc 0 -RNF17 UCSF GRCh37 13 25418078 25418078 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 16 259 0 ENST00000255324.5:c.2800C>T p.Gln934Ter p.Q934* ENST00000255324 NM_031277.2 934 Cag/Tag 0 -RNF182 UCSF GRCh37 6 13977943 13977943 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 72 256 0 ENST00000488300.1:c.593C>T p.Pro198Leu p.P198L ENST00000488300 NM_152737.3 198 cCc/cTc 0 -RNF2 UCSF GRCh37 1 185067214 185067214 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 10 86 0 ENST00000367510.3:c.475G>A p.Gly159Ser p.G159S ENST00000367510 NM_007212.3 159 Ggc/Agc 0 -RNF213 UCSF GRCh37 17 78343302 78343302 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 6 64 0 ENST00000582970.1:c.12156G>A p.Arg4052= p.R4052= ENST00000582970 NM_001256071.1 4052 agG/agA 0 -RNF34 UCSF GRCh37 12 121858387 121858387 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 11 67 0 ENST00000392465.3:c.737G>A p.Gly246Glu p.G246E ENST00000392465 NM_194271.2 246 gGg/gAg 0 -RNF44 UCSF GRCh37 5 175958506 175958506 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 4 45 0 ENST00000274811.4:c.423G>A p.Met141Ile p.M141I ENST00000274811 NM_014901.4 141 atG/atA 0 -RNH1 UCSF GRCh37 11 498538 498538 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 21 161 0 ENST00000534797.1:c.875C>T p.Ala292Val p.A292V ENST00000534797 292 gCc/gTc 0 -RORA UCSF GRCh37 15 61521328 61521328 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 11 96 0 ENST00000335670.6:c.90G>A p.Pro30= p.P30= ENST00000335670 NM_134261.2 30 ccG/ccA 0 -RPAP1 UCSF GRCh37 15 41816446 41816446 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 7 61 0 ENST00000304330.4:c.2082C>T p.Leu694= p.L694= ENST00000304330 NM_015540.2 694 ctC/ctT 0 -RPL5 UCSF GRCh37 1 93299127 93299127 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 16 99 0 ENST00000370321.3:c.99G>A p.Arg33= p.R33= ENST00000370321 NM_000969.3 33 cgG/cgA 0 -RPL7 UCSF GRCh37 8 74204015 74204015 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 141 25 235 0 ENST00000352983.2:c.421G>A p.Ala141Thr p.A141T ENST00000352983 141 Gca/Aca 0 -RPP25 UCSF GRCh37 15 75248864 75248864 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 86 72 184 0 ENST00000322177.5:c.61G>A p.Gly21Ser p.G21S ENST00000322177 NM_017793.2 21 Ggc/Agc 0 -RPRD2 UCSF GRCh37 1 150443190 150443190 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 19 256 0 ENST00000369068.4:c.1766G>A p.Ser589Asn p.S589N ENST00000369068 NM_015203.3 589 aGc/aAc 0 -RPS23 UCSF GRCh37 5 81573621 81573621 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 242 45 335 0 ENST00000296674.8:c.55G>A p.Asp19Asn p.D19N ENST00000296674 NM_001025.4 19 Gac/Aac 0 -RPS6KA2 UCSF GRCh37 6 167275595 167275595 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 7 97 0 ENST00000503859.1:c.63+1G>A p.X21_splice ENST00000503859 NM_001006932.1 0 -RPS6KA4 UCSF GRCh37 11 64135622 64135622 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 194 30 293 0 ENST00000334205.4:c.1090C>T p.Pro364Ser p.P364S ENST00000334205 NM_003942.2 364 Ccc/Tcc 0 -RPS6KA5 UCSF GRCh37 14 91389456 91389456 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 195 24 274 0 ENST00000261991.3:c.702+1G>A p.X234_splice ENST00000261991 NM_004755.2 0 -RPS6KL1 UCSF GRCh37 14 75374226 75374226 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 26 198 0 ENST00000555647.1:c.1451C>T p.Ser484Phe p.S484F ENST00000555647 484 tCc/tTc 0 -RPTN UCSF GRCh37 1 152127274 152127274 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 762 127 903 0 ENST00000316073.3:c.2301C>T p.Asn767= p.N767= ENST00000316073 NM_001122965.1 767 aaC/aaT 0 -RPTOR UCSF GRCh37 17 78765296 78765296 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 10 123 0 ENST00000306801.3:c.877G>A p.Asp293Asn p.D293N ENST00000306801 NM_020761.2 293 Gat/Aat 0 -RPUSD2 UCSF GRCh37 15 40861556 40861556 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 10 77 0 ENST00000315616.7:c.20G>A p.Gly7Glu p.G7E ENST00000315616 NM_152260.1 7 gGa/gAa 0 -RRAGA UCSF GRCh37 9 19049980 19049980 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 22 230 0 ENST00000380527.1:c.323C>T p.Ser108Leu p.S108L ENST00000380527 NM_006570.4 108 tCg/tTg 0 -RREB1 UCSF GRCh37 6 7231216 7231216 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 17 137 0 ENST00000379938.2:c.2884G>A p.Glu962Lys p.E962K ENST00000379938 NM_001003700.1 962 Gag/Aag 0 -RREB1 UCSF GRCh37 6 7231282 7231282 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 14 104 0 ENST00000379938.2:c.2950G>A p.Gly984Arg p.G984R ENST00000379938 NM_001003700.1 984 Ggg/Agg 0 -RRN3 UCSF GRCh37 16 15166849 15166849 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 10 118 0 ENST00000198767.6:c.1086C>T p.Cys362= p.C362= ENST00000198767 NM_018427.3 362 tgC/tgT 0 -RRP1 UCSF GRCh37 21 45217919 45217919 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 7 43 0 ENST00000497547.1:c.749C>T p.Ser250Phe p.S250F ENST00000497547 NM_003683.5 250 tCc/tTc 0 -RRP9 UCSF GRCh37 3 51968521 51968521 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 21 153 0 ENST00000232888.6:c.1227C>T p.Phe409= p.F409= ENST00000232888 NM_004704.4 409 ttC/ttT 0 -RSAD1 UCSF GRCh37 17 48557042 48557042 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 9 67 0 ENST00000258955.2:c.188C>T p.Pro63Leu p.P63L ENST00000258955 NM_018346.1 63 cCt/cTt 0 -RSF1 UCSF GRCh37 11 77394779 77394779 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 226 43 373 0 ENST00000308488.6:c.3041G>A p.Arg1014Lys p.R1014K ENST00000308488 1014 aGa/aAa 0 -RSPH4A UCSF GRCh37 6 116937853 116937853 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 43 135 0 ENST00000229554.5:c.67C>T p.Pro23Ser p.P23S ENST00000229554 NM_001010892.2 23 Cca/Tca 0 -RSPH6A UCSF GRCh37 19 46305384 46305384 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 258 38 398 0 ENST00000221538.3:c.1792G>A p.Asp598Asn p.D598N ENST00000221538 NM_030785.3 598 Gat/Aat 0 -RTCD1 UCSF GRCh37 1 100732140 100732140 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 17 143 0 ENST00000260563.4:c.106G>A p.Val36Met p.V36M ENST00000260563 NM_001130841.1 36 Gtg/Atg 0 -RTEL1 UCSF GRCh37 20 62292650 62292650 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 5 30 0 ENST00000508582.2:c.103-1G>A p.X35_splice ENST00000508582 0 -RTTN UCSF GRCh37 18 67857947 67857947 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 11 173 0 ENST00000255674.6:c.1016G>A p.Ser339Asn p.S339N ENST00000255674 NM_173630.3 339 aGt/aAt 0 -RUNDC1 UCSF GRCh37 17 41143722 41143722 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 200 28 290 0 ENST00000361677.1:c.1831G>A p.Asp611Asn p.D611N ENST00000361677 NM_173079.2 611 Gat/Aat 0 -RUNDC3A UCSF GRCh37 17 42386308 42386308 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 6 52 0 ENST00000426726.3:c.107+1G>A p.X36_splice ENST00000426726 NM_001144825.1 0 -RUSC2 UCSF GRCh37 9 35555506 35555506 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 55 165 0 ENST00000455600.1:c.2464C>T p.Pro822Ser p.P822S ENST00000455600 NM_001135999.1 822 Cct/Tct 0 -RXFP1 UCSF GRCh37 4 159554622 159554622 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 8 160 0 ENST00000307765.5:c.965C>T p.Ser322Leu p.S322L ENST00000307765 NM_001253728.1 322 tCa/tTa 0 -RXRA UCSF GRCh37 9 137320968 137320968 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 184 33 284 0 ENST00000481739.1:c.925C>T p.Leu309Phe p.L309F ENST00000481739 NM_002957.4 309 Ctc/Ttc 0 -RXRA UCSF GRCh37 9 137321053 137321053 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 60 159 0 ENST00000481739.1:c.1010C>T p.Ala337Val p.A337V ENST00000481739 NM_002957.4 337 gCc/gTc 0 -RYBP UCSF GRCh37 3 72427537 72427537 + stop_retained_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 16 211 0 ENST00000477973.2:c.951G>A p.Ter318= p.*318= ENST00000477973 NM_012234.5 318 tGa/tAa 0 -RYR1 UCSF GRCh37 19 38931413 38931413 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 5 47 0 ENST00000359596.3:c.74C>T p.Ala25Val p.A25V ENST00000359596 25 gCt/gTt 0 -RYR1 UCSF GRCh37 19 38985127 38985127 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 14 91 0 ENST00000359596.3:c.6410C>T p.Ala2137Val p.A2137V ENST00000359596 2137 gCc/gTc 0 -RYR1 UCSF GRCh37 19 38993213 38993213 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 237 48 333 0 ENST00000359596.3:c.7681C>T p.Leu2561Phe p.L2561F ENST00000359596 2561 Ctc/Ttc 0 -RYR1 UCSF GRCh37 19 38985070 38985070 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 17 7 39 0 ENST00000359596.3:c.6353G>A p.Arg2118Gln p.R2118Q ENST00000359596 2118 cGg/cAg 0 -RYR1 UCSF GRCh37 19 38964070 38964070 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 10 111 0 ENST00000359596.3:c.3819C>T p.His1273= p.H1273= ENST00000359596 1273 caC/caT 0 -RYR3 UCSF GRCh37 15 34040384 34040384 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 3 58 0 ENST00000389232.4:c.8059G>A p.Glu2687Lys p.E2687K ENST00000389232 NM_001036.3 2687 Gag/Aag 0 -S100PBP UCSF GRCh37 1 33292420 33292420 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 22 122 0 ENST00000373475.5:c.720G>A p.Arg240= p.R240= ENST00000373475 NM_022753.3 240 cgG/cgA 0 -S1PR1 UCSF GRCh37 1 101705160 101705160 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 446 51 564 0 ENST00000305352.6:c.620C>T p.Thr207Ile p.T207I ENST00000305352 NM_001400.4 207 aCc/aTc 0 -S1PR1 UCSF GRCh37 1 101705464 101705464 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 282 53 366 0 ENST00000305352.6:c.924C>T p.Pro308= p.P308= ENST00000305352 NM_001400.4 308 ccC/ccT 0 -SAG UCSF GRCh37 2 234237205 234237205 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 16 148 0 ENST00000409110.1:c.594G>A p.Trp198Ter p.W198* ENST00000409110 NM_000541.4 198 tgG/tgA 0 -SAMD15 UCSF GRCh37 14 77844770 77844770 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 15 154 0 ENST00000216471.4:c.1009C>T p.Pro337Ser p.P337S ENST00000216471 NM_001010860.1 337 Cct/Tct 0 -SAMD9 UCSF GRCh37 7 92730948 92730948 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 293 53 505 0 ENST00000379958.2:c.4463G>A p.Arg1488Lys p.R1488K ENST00000379958 NM_017654.3 1488 aGa/aAa 0 -SARDH UCSF GRCh37 9 136577769 136577769 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 10 77 0 ENST00000371872.4:c.1300G>A p.Glu434Lys p.E434K ENST00000371872 NM_007101.3 434 Gag/Aag 0 -SARDH UCSF GRCh37 9 136568071 136568071 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 9 54 0 ENST00000371872.4:c.1635G>A p.Glu545= p.E545= ENST00000371872 NM_007101.3 545 gaG/gaA 0 -SARM1 UCSF GRCh37 17 26715552 26715552 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 12 66 0 ENST00000457710.3:c.1815G>A p.Val605= p.V605= ENST00000457710 NM_015077.3 605 gtG/gtA 0 -SARS UCSF GRCh37 1 109779146 109779146 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 7 80 0 ENST00000234677.2:c.1233G>A p.Gly411= p.G411= ENST00000234677 NM_006513.3 411 ggG/ggA 0 -SART3 UCSF GRCh37 12 108931935 108931935 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 15 156 0 ENST00000228284.3:c.1107C>T p.Asn369= p.N369= ENST00000228284 NM_014706.3 369 aaC/aaT 0 -SBF2 UCSF GRCh37 11 9812175 9812175 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 16 155 0 ENST00000256190.8:c.4626G>A p.Trp1542Ter p.W1542* ENST00000256190 NM_030962.3 1542 tgG/tgA 0 -SCAF1 UCSF GRCh37 19 50154164 50154164 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 123 63 208 0 ENST00000360565.3:c.518G>A p.Arg173His p.R173H ENST00000360565 NM_021228.2 173 cGt/cAt 0 -SCAF1 UCSF GRCh37 19 50158012 50158012 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 239 34 370 0 ENST00000360565.3:c.3503G>A p.Gly1168Asp p.G1168D ENST00000360565 NM_021228.2 1168 gGc/gAc 0 -SCAF1 UCSF GRCh37 19 50157655 50157655 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 11 114 0 ENST00000360565.3:c.3366G>A p.Ala1122= p.A1122= ENST00000360565 NM_021228.2 1122 gcG/gcA 0 -SCAMT-ND3 UCSF GRCh37 6 28542726 28542726 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 16 213 0 ENST00000452236.2:c.1756C>T p.Pro586Ser p.P586S ENST00000452236 NM_052923.1 586 Cct/Tct 0 -SCIN UCSF GRCh37 7 12617790 12617790 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 12 105 0 ENST00000297029.5:c.301G>A p.Gly101Arg p.G101R ENST00000297029 NM_001112706.2 101 Gga/Aga 0 -SCN10A UCSF GRCh37 3 38783835 38783835 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 9 92 0 ENST00000449082.2:c.2053G>A p.Glu685Lys p.E685K ENST00000449082 NM_006514.2 685 Gag/Aag 0 -SCN1A UCSF GRCh37 2 166930062 166930062 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 32 270 0 ENST00000303395.4:c.70G>A p.Ala24Thr p.A24T ENST00000303395 24 Gct/Act 0 -SCN2A UCSF GRCh37 2 166152547 166152547 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 12 86 0 ENST00000357398.3:c.214G>A p.Glu72Lys p.E72K ENST00000357398 72 Gag/Aag 0 -SCN5A UCSF GRCh37 3 38592472 38592472 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 87 255 0 ENST00000413689.1:c.5391C>T p.Ile1797= p.I1797= ENST00000413689 NM_001160160.1 1797 atC/atT 0 -SCNN1B UCSF GRCh37 16 23364211 23364211 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 252 35 376 0 ENST00000343070.2:c.401C>T p.Ala134Val p.A134V ENST00000343070 NM_000336.2 134 gCc/gTc 0 -SCNN1D UCSF GRCh37 1 1226800 1226800 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 26 71 0 ENST00000379116.5:c.2219G>A p.Ser740Asn p.S740N ENST00000379116 NM_001130413.3 740 aGc/aAc 0 -SCNN1G UCSF GRCh37 16 23226446 23226446 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 36 109 0 ENST00000300061.2:c.1606G>A p.Gly536Ser p.G536S ENST00000300061 NM_001039.3 536 Ggc/Agc 0 -SCP2 UCSF GRCh37 1 53446172 53446172 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 27 254 0 ENST00000371514.3:c.930C>T p.Thr310= p.T310= ENST00000371514 NM_002979.4 310 acC/acT 0 -SCRN1 UCSF GRCh37 7 29983761 29983761 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 239 30 227 0 ENST00000434476.2:c.436G>A p.Ala146Thr p.A146T ENST00000434476 NM_001145514.1 146 Gcc/Acc 0 -SCYL1 UCSF GRCh37 11 65293787 65293787 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 4 19 0 ENST00000270176.5:c.568G>A p.Ala190Thr p.A190T ENST00000270176 NM_020680.3 190 Gct/Act 0 -SDCCAG3 UCSF GRCh37 9 139301920 139301920 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 4 33 0 ENST00000357365.3:c.496G>A p.Asp166Asn p.D166N ENST00000357365 NM_001039707.1 166 Gat/Aat 0 -SDF2L1 UCSF GRCh37 22 21997337 21997337 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 10 31 0 ENST00000248958.4:c.374C>T p.Ser125Phe p.S125F ENST00000248958 NM_022044.2 125 tCc/tTc 0 -SDK1 UCSF GRCh37 7 4249791 4249791 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 14 96 0 ENST00000404826.2:c.5536C>T p.Gln1846Ter p.Q1846* ENST00000404826 NM_152744.3 1846 Caa/Taa 0 -SEC14L1 UCSF GRCh37 17 75202374 75202374 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 4 22 0 ENST00000392476.2:c.1233G>A p.Val411= p.V411= ENST00000392476 NM_001204408.1 411 gtG/gtA 0 -SEC16B UCSF GRCh37 1 177901632 177901632 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 4 16 0 ENST00000308284.6:c.3005G>A p.Gly1002Glu p.G1002E ENST00000308284 NM_033127.2 1002 gGa/gAa 0 -SEC31B UCSF GRCh37 10 102266174 102266174 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 39 172 0 ENST00000370345.3:c.786G>A p.Gly262= p.G262= ENST00000370345 NM_015490.3 262 ggG/ggA 0 -SEC61A1 UCSF GRCh37 3 127785845 127785845 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 281 43 433 0 ENST00000243253.3:c.826T>C p.Tyr276His p.Y276H ENST00000243253 NM_013336.3 276 Tac/Cac 0 -SEC63 UCSF GRCh37 6 108243022 108243022 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 236 43 332 0 ENST00000369002.4:c.431G>A p.Arg144Lys p.R144K ENST00000369002 NM_007214.4 144 aGg/aAg 0 -SEC63 UCSF GRCh37 6 108215043 108215043 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 187 30 395 0 ENST00000369002.4:c.1499G>A p.Gly500Glu p.G500E ENST00000369002 NM_007214.4 500 gGg/gAg 0 -SECISBP2L UCSF GRCh37 15 49311736 49311736 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 8 79 0 ENST00000559471.1:c.1049G>A p.Cys350Tyr p.C350Y ENST00000559471 NM_001193489.1 350 tGc/tAc 0 -SEL1L UCSF GRCh37 14 81993227 81993227 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 35 261 0 ENST00000336735.4:c.190G>A p.Glu64Lys p.E64K ENST00000336735 NM_005065.5 64 Gaa/Aaa 0 -SEL1L2 UCSF GRCh37 20 13867010 13867010 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 16 192 0 ENST00000378072.5:c.824C>T p.Ser275Phe p.S275F ENST00000378072 NM_001271539.1 275 tCt/tTt 0 -SELENBP1 UCSF GRCh37 1 151341631 151341631 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 8 38 0 ENST00000368868.5:c.209A>G p.Asp70Gly p.D70G ENST00000368868 NM_003944.3 70 gAc/gGc 0 -SELT UCSF GRCh37 3 150321233 150321233 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 7 71 0 ENST00000471696.1:c.84C>T p.Ser28= p.S28= ENST00000471696 NM_016275.3 28 agC/agT 0 -SEMA3E UCSF GRCh37 7 83036460 83036460 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 13 147 0 ENST00000307792.3:c.766G>A p.Glu256Lys p.E256K ENST00000307792 NM_012431.2 256 Gaa/Aaa 0 -SEMA3F UCSF GRCh37 3 50220407 50220407 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 18 150 0 ENST00000002829.3:c.974C>T p.Ser325Phe p.S325F ENST00000002829 NM_004186.3 325 tCt/tTt 0 -SEMA4C UCSF GRCh37 2 97530011 97530011 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 10 80 0 ENST00000305476.5:c.1071C>T p.Arg357= p.R357= ENST00000305476 NM_017789.4 357 cgC/cgT 0 -SEMA4D UCSF GRCh37 9 91994525 91994525 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 11 138 0 ENST00000450295.1:c.1683C>T p.Tyr561= p.Y561= ENST00000450295 561 taC/taT 0 -SEMA5B UCSF GRCh37 3 122631167 122631167 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 13 90 0 ENST00000451055.2:c.2910G>A p.Trp970Ter p.W970* ENST00000451055 NM_001256347.1 970 tgG/tgA 0 -SEMA6A UCSF GRCh37 5 115782924 115782924 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 20 192 0 ENST00000343348.6:c.2478G>A p.Gln826= p.Q826= ENST00000343348 NM_020796.3 826 caG/caA 0 -SENP7 UCSF GRCh37 3 101066866 101066866 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 45 189 0 ENST00000394095.2:c.1687G>A p.Asp563Asn p.D563N ENST00000394095 NM_020654.3 563 Gat/Aat 0 -SENP7 UCSF GRCh37 3 101049182 101049182 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 207 35 379 0 ENST00000394095.2:c.2747C>T p.Ser916Phe p.S916F ENST00000394095 NM_020654.3 916 tCc/tTc 0 -SEPT9 UCSF GRCh37 17 75488714 75488714 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 41 144 0 ENST00000427177.1:c.1392C>T p.Asp464= p.D464= ENST00000427177 NM_001113491.1 464 gaC/gaT 0 -SERPINA10 UCSF GRCh37 14 94752585 94752585 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 174 29 255 0 ENST00000393096.1:c.1003G>A p.Val335Ile p.V335I ENST00000393096 NM_016186.2 335 Gtt/Att 0 -SERPINA11 UCSF GRCh37 14 94914700 94914700 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 15 183 0 ENST00000334708.3:c.412G>A p.Gly138Arg p.G138R ENST00000334708 NM_001080451.1 138 Gga/Aga 0 -SERPINA11 UCSF GRCh37 14 94914822 94914822 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 15 143 0 ENST00000334708.3:c.290C>T p.Ala97Val p.A97V ENST00000334708 NM_001080451.1 97 gCt/gTt 0 -SERPINF2 UCSF GRCh37 17 1649012 1649012 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 8 78 0 ENST00000324015.3:c.176G>A p.Gly59Asp p.G59D ENST00000324015 NM_000934.3 59 gGc/gAc 0 -SERTAD1 UCSF GRCh37 19 40929053 40929053 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 16 106 0 ENST00000357949.4:c.401C>T p.Pro134Leu p.P134L ENST00000357949 NM_013376.3 134 cCc/cTc 0 -SERTAD2 UCSF GRCh37 2 64863823 64863823 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 10 121 1 ENST00000313349.3:c.183G>A p.Lys61= p.K61= ENST00000313349 NM_014755.2 61 aaG/aaA 0 -SESN3 UCSF GRCh37 11 94910922 94910922 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 8 154 0 ENST00000536441.1:c.1208G>A p.Arg403Lys p.R403K ENST00000536441 NM_144665.3 403 aGa/aAa 0 -SETBP1 UCSF GRCh37 18 42530356 42530356 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 317 55 437 0 ENST00000282030.5:c.1051G>A p.Asp351Asn p.D351N ENST00000282030 NM_015559.2 351 Gac/Aac 0 -SETD8 UCSF GRCh37 12 123880969 123880969 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 14 110 0 ENST00000330479.4:c.587C>T p.Ala196Val p.A196V ENST00000330479 NM_020382.3 196 gCc/gTc 0 -SETDB2 UCSF GRCh37 13 50050655 50050655 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 7 109 0 ENST00000317257.8:c.385G>A p.Val129Ile p.V129I ENST00000317257 NM_031915.2 129 Gta/Ata 0 -SETX UCSF GRCh37 9 135140211 135140211 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 22 206 0 ENST00000224140.5:c.7449G>A p.Gly2483= p.G2483= ENST00000224140 NM_015046.5 2483 ggG/ggA 0 -SEZ6L2 UCSF GRCh37 16 29899902 29899902 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 16 106 0 ENST00000308713.5:c.998G>A p.Gly333Asp p.G333D ENST00000308713 NM_001114099.2 333 gGc/gAc 0 -SF3A1 UCSF GRCh37 22 30749022 30749022 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 16 145 0 ENST00000215793.8:c.103C>T p.Pro35Ser p.P35S ENST00000215793 NM_005877.4 35 Cct/Tct 0 -SF3B2 UCSF GRCh37 11 65825560 65825560 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 5 57 0 ENST00000322535.6:c.813G>A p.Gln271= p.Q271= ENST00000322535 NM_006842.2 271 caG/caA 0 -SFI1 UCSF GRCh37 22 31946261 31946261 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 10 73 0 ENST00000400288.2:c.471G>A p.Met157Ile p.M157I ENST00000400288 NM_001007467.2 157 atG/atA 0 -SFI1 UCSF GRCh37 22 32000897 32000897 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 14 32 0 ENST00000400288.2:c.2020G>A p.Ala674Thr p.A674T ENST00000400288 NM_001007467.2 674 Gcc/Acc 0 -SFI1 UCSF GRCh37 22 31974436 31974436 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 7 51 0 ENST00000400288.2:c.1153C>T p.Leu385= p.L385= ENST00000400288 NM_001007467.2 385 Ctg/Ttg 0 -SFMBT1 UCSF GRCh37 3 52955848 52955848 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 16 143 0 ENST00000394752.3:c.1132-1G>A p.X378_splice ENST00000394752 NM_016329.3 0 -SFSWAP UCSF GRCh37 12 132195854 132195854 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 21 152 0 ENST00000541286.1:c.80G>A p.Gly27Asp p.G27D ENST00000541286 NM_001261411.1 27 gGc/gAc 0 -SFTPB UCSF GRCh37 2 85895263 85895263 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 8 25 0 ENST00000393822.3:c.80C>T p.Pro27Leu p.P27L ENST00000393822 27 cCc/cTc 0 -SFTPB UCSF GRCh37 2 85894253 85894253 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 9 110 0 ENST00000393822.3:c.279G>A p.Lys93= p.K93= ENST00000393822 93 aaG/aaA 0 -SGCG UCSF GRCh37 13 23777883 23777883 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 11 116 0 ENST00000218867.3:c.50G>A p.Arg17Lys p.R17K ENST00000218867 NM_000231.2 17 aGg/aAg 0 -PRAG1 UCSF GRCh37 8 8185591 8185591 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 20 107 0 ENST00000520004.1:c.2701G>A p.Gly901Ser p.G901S ENST00000520004 901 Ggc/Agc 0 -SGSM2 UCSF GRCh37 17 2275523 2275523 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 16 83 0 ENST00000268989.3:c.1617G>A p.Gln539= p.Q539= ENST00000268989 NM_014853.2 539 caG/caA 0 -SGSM2 UCSF GRCh37 17 2276363 2276363 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 12 95 0 ENST00000268989.3:c.1905G>A p.Lys635= p.K635= ENST00000268989 NM_014853.2 635 aaG/aaA 0 -SH2B1 UCSF GRCh37 16 28880534 28880534 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 84 248 0 ENST00000322610.8:c.1139G>A p.Cys380Tyr p.C380Y ENST00000322610 380 tGc/tAc 0 -SH2D1B UCSF GRCh37 1 162368778 162368778 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 24 198 0 ENST00000367929.2:c.298C>T p.Pro100Ser p.P100S ENST00000367929 NM_053282.4 100 Cca/Tca 0 -SH2D7 UCSF GRCh37 15 78393664 78393664 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 16 156 0 ENST00000328828.5:c.1069G>A p.Glu357Lys p.E357K ENST00000328828 NM_001101404.1 357 Gaa/Aaa 0 -SH3BGR UCSF GRCh37 21 40883652 40883652 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 10 35 0 ENST00000333634.4:c.670G>A p.Glu224Lys p.E224K ENST00000333634 NM_007341.2 224 Gag/Aag 0 -SHANK1 UCSF GRCh37 19 51170655 51170655 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 13 111 0 ENST00000293441.1:c.4562C>T p.Pro1521Leu p.P1521L ENST00000293441 NM_016148.2 1521 cCc/cTc 0 -SHANK1 UCSF GRCh37 19 51165271 51165271 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 321 38 488 0 ENST00000293441.1:c.6437G>A p.Gly2146Asp p.G2146D ENST00000293441 NM_016148.2 2146 gGc/gAc 0 -SHANK3 UCSF GRCh37 22 51154125 51154125 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 14 187 0 ENST00000262795.3:c.2342G>A p.Gly781Asp p.G781D ENST00000262795 NM_033517.1 781 gGc/gAc 0 -SHMT2 UCSF GRCh37 12 57625625 57625625 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 712 152 252 0 ENST00000328923.3:c.441C>T p.Asn147= p.N147= ENST00000328923 NM_005412.5 147 aaC/aaT 0 -SHROOM2 UCSF GRCh37 X 9900536 9900536 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 15 60 0 ENST00000380913.3:c.3213G>A p.Glu1071= p.E1071= ENST00000380913 NM_001649.2 1071 gaG/gaA 0 -SIGIRR UCSF GRCh37 11 406357 406357 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 15 124 0 ENST00000431843.2:c.1061G>A p.Gly354Asp p.G354D ENST00000431843 NM_001135054.1 354 gGc/gAc 0 -SIGLEC1 UCSF GRCh37 20 3670327 3670327 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 13 108 0 ENST00000344754.4:c.4917C>T p.Phe1639= p.F1639= ENST00000344754 NM_023068.3 1639 ttC/ttT 0 -SIGLEC1 UCSF GRCh37 20 3678704 3678704 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 12 54 0 ENST00000344754.4:c.1863C>T p.Leu621= p.L621= ENST00000344754 NM_023068.3 621 ctC/ctT 0 -SIGLEC10 UCSF GRCh37 19 51914392 51914392 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 207 44 364 0 ENST00000356298.5:c.2055G>A p.Lys685= p.K685= ENST00000356298 NM_033130.4 685 aaG/aaA 0 -SIK3 UCSF GRCh37 11 116741100 116741100 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 5 60 0 ENST00000292055.4:c.1581C>T p.Thr527= p.T527= ENST00000292055 NM_025164.3 527 acC/acT 0 -SIPA1L1 UCSF GRCh37 14 72055812 72055812 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 34 121 0 ENST00000555818.1:c.1223A>G p.Asn408Ser p.N408S ENST00000555818 NM_015556.1 408 aAt/aGt 0 -SIPA1L3 UCSF GRCh37 19 38643479 38643479 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 18 189 0 ENST00000222345.6:c.3534-1G>A p.X1178_splice ENST00000222345 NM_015073.1 0 -SIRT2 UCSF GRCh37 19 39384465 39384465 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 14 120 0 ENST00000249396.7:c.106G>A p.Ala36Thr p.A36T ENST00000249396 NM_012237.3 36 Gca/Aca 0 -SIRT6 UCSF GRCh37 19 4174726 4174726 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 8 48 0 ENST00000337491.2:c.956C>T p.Pro319Leu p.P319L ENST00000337491 NM_016539.2 319 cCc/cTc 0 -SIRT7 UCSF GRCh37 17 79870343 79870343 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 279 49 377 0 ENST00000328666.6:c.1152C>T p.Gly384= p.G384= ENST00000328666 NM_016538.2 384 ggC/ggT 0 -SIX5 UCSF GRCh37 19 46268871 46268871 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 23 237 0 ENST00000317578.6:c.2108G>A p.Gly703Glu p.G703E ENST00000317578 NM_175875.4 703 gGg/gAg 0 -SKI UCSF GRCh37 1 2160727 2160727 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 20 169 0 ENST00000378536.4:c.522C>T p.Cys174= p.C174= ENST00000378536 NM_003036.3 174 tgC/tgT 0 -SKI UCSF GRCh37 1 2235787 2235787 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 28 238 0 ENST00000378536.4:c.1530C>T p.Ala510= p.A510= ENST00000378536 NM_003036.3 510 gcC/gcT 0 -SKOR1 UCSF GRCh37 15 68121556 68121556 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 5 27 0 ENST00000341418.5:c.2065G>A p.Ala689Thr p.A689T ENST00000341418 NM_001258024.1 689 Gcg/Acg 0 -SLC12A5 UCSF GRCh37 20 44669993 44669993 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 10 101 0 ENST00000454036.2:c.949C>T p.Leu317= p.L317= ENST00000454036 NM_001134771.1 317 Ctg/Ttg 0 -SLC12A8 UCSF GRCh37 3 124930185 124930185 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 16 165 0 ENST00000393469.4:c.9G>A p.Gln3= p.Q3= ENST00000393469 NM_001195483.1 3 caG/caA 0 -SLC13A3 UCSF GRCh37 20 45188771 45188771 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 12 62 0 ENST00000279027.4:c.1699G>A p.Ala567Thr p.A567T ENST00000279027 NM_001193342.1 567 Gca/Aca 0 -SLC14A2 UCSF GRCh37 18 43252921 43252921 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 371 61 548 0 ENST00000255226.6:c.2286G>A p.Trp762Ter p.W762* ENST00000255226 NM_007163.3 762 tgG/tgA 0 -SLC16A10 UCSF GRCh37 6 111409271 111409271 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 336 40 459 0 ENST00000368851.5:c.316G>A p.Asp106Asn p.D106N ENST00000368851 NM_018593.4 106 Gac/Aac 0 -SLC16A6 UCSF GRCh37 17 66267099 66267099 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 753 120 887 0 ENST00000327268.4:c.1202G>A p.Gly401Glu p.G401E ENST00000327268 NM_001174166.1 401 gGg/gAg 0 -SLC16A8 UCSF GRCh37 22 38477584 38477584 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 13 3 19 0 ENST00000320521.5:c.461C>T p.Pro154Leu p.P154L ENST00000320521 NM_013356.2 154 cCc/cTc 0 -SLC16A9 UCSF GRCh37 10 61413468 61413468 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 27 268 0 ENST00000395348.3:c.1316C>T p.Ala439Val p.A439V ENST00000395348 NM_194298.2 439 gCt/gTt 0 -SLC19A3 UCSF GRCh37 2 228564226 228564226 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 7 120 0 ENST00000258403.3:c.205C>T p.Pro69Ser p.P69S ENST00000258403 NM_025243.3 69 Cct/Tct 0 -SLC1A2 UCSF GRCh37 11 35338955 35338955 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 7 69 0 ENST00000278379.3:c.126G>A p.Gly42= p.G42= ENST00000278379 NM_004171.3 42 ggG/ggA 0 -SLC22A10 UCSF GRCh37 11 63065069 63065069 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 41 157 0 ENST00000332793.6:c.700G>A p.Val234Ile p.V234I ENST00000332793 NM_001039752.3 234 Gta/Ata 0 -SLC22A8 UCSF GRCh37 11 62762159 62762159 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 116 21 199 0 ENST00000336232.2:c.1071C>T p.Ile357= p.I357= ENST00000336232 NM_001184736.1 357 atC/atT 0 -SLC25A17 UCSF GRCh37 22 41173090 41173090 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 12 62 0 ENST00000435456.2:c.647C>T p.Ala216Val p.A216V ENST00000435456 NM_006358.2 216 gCc/gTc 0 -SLC25A18 UCSF GRCh37 22 18070052 18070052 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 6 38 0 ENST00000327451.6:c.560G>A p.Gly187Asp p.G187D ENST00000327451 NM_031481.1 187 gGt/gAt 0 -SLC25A25 UCSF GRCh37 9 130866028 130866028 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 11 78 0 ENST00000373068.2:c.657G>A p.Met219Ile p.M219I ENST00000373068 NM_001006641.3 219 atG/atA 0 -SLC25A31 UCSF GRCh37 4 128665894 128665894 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 20 247 0 ENST00000281154.4:c.300C>T p.Asn100= p.N100= ENST00000281154 NM_031291.2 100 aaC/aaT 0 -SLC25A33 UCSF GRCh37 1 9613713 9613713 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 16 129 0 ENST00000302692.6:c.86C>T p.Thr29Ile p.T29I ENST00000302692 NM_032315.2 29 aCt/aTt 0 -SLC25A42 UCSF GRCh37 19 19221405 19221405 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 12 56 0 ENST00000318596.7:c.677C>T p.Pro226Leu p.P226L ENST00000318596 NM_178526.4 226 cCc/cTc 0 -SLC26A10P UCSF GRCh37 12 58015596 58015596 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 668 99 174 0 ENST00000320442.4:c.679C>T p.Pro227Ser p.P227S ENST00000320442 NM_133489.2 227 Ccc/Tcc 0 -SLC26A2 UCSF GRCh37 5 149357587 149357587 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 132 65 231 0 ENST00000286298.4:c.372C>T p.Pro124= p.P124= ENST00000286298 NM_000112.3 124 ccC/ccT 0 -SLC26A3 UCSF GRCh37 7 107415274 107415274 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 196 32 301 0 ENST00000340010.5:c.1721C>T p.Ala574Val p.A574V ENST00000340010 NM_000111.2 574 gCt/gTt 0 -SLC26A8 UCSF GRCh37 6 35923186 35923186 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 28 269 0 ENST00000490799.1:c.1975G>A p.Asp659Asn p.D659N ENST00000490799 NM_052961.3 659 Gac/Aac 0 -SLC27A1 UCSF GRCh37 19 17615328 17615328 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 21 188 0 ENST00000252595.7:c.1848C>T p.Asp616= p.D616= ENST00000252595 NM_198580.1 616 gaC/gaT 0 -SLC27A3 UCSF GRCh37 1 153747976 153747976 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 24 213 0 ENST00000368661.3:c.144G>A p.Met48Ile p.M48I ENST00000368661 NM_024330.1 48 atG/atA 0 -SLC27A4 UCSF GRCh37 9 131105537 131105537 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 7 50 0 ENST00000300456.4:c.126C>T p.Ile42= p.I42= ENST00000300456 NM_005094.3 42 atC/atT 0 -SLC27A5 UCSF GRCh37 19 59010240 59010240 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 62 165 1 ENST00000263093.2:c.1808C>T p.Pro603Leu p.P603L ENST00000263093 NM_012254.2 603 cCc/cTc 0 -SLC2A13 UCSF GRCh37 12 40258622 40258622 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 134 17 237 0 ENST00000280871.4:c.1261C>T p.Arg421Cys p.R421C ENST00000280871 NM_052885.3 421 Cgc/Tgc 0 -SLC2A8 UCSF GRCh37 9 130165022 130165022 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 6 55 0 ENST00000373371.3:c.713G>A p.Gly238Glu p.G238E ENST00000373371 NM_014580.4 238 gGg/gAg 0 -SLC34A1 UCSF GRCh37 5 176823753 176823753 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 23 138 0 ENST00000324417.5:c.1194C>T p.Thr398= p.T398= ENST00000324417 NM_003052.4 398 acC/acT 0 -SLC35E1 UCSF GRCh37 19 16664598 16664598 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 266 31 269 0 ENST00000595753.1:c.1125C>T p.Pro375= p.P375= ENST00000595753 NM_024881.4 375 ccC/ccT 0 -SLC37A1 UCSF GRCh37 21 43967234 43967234 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 270 45 353 0 ENST00000352133.2:c.752C>T p.Ser251Phe p.S251F ENST00000352133 251 tCc/tTc 0 -SLC38A5 UCSF GRCh37 X 48324630 48324630 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 17 40 0 ENST00000376876.3:c.399G>A p.Leu133= p.L133= ENST00000376876 133 ctG/ctA 0 -SLC45A3 UCSF GRCh37 1 205631136 205631136 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 7 35 0 ENST00000367145.3:c.1077G>A p.Val359= p.V359= ENST00000367145 NM_033102.2 359 gtG/gtA 0 -SLC46A2 UCSF GRCh37 9 115649617 115649617 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 15 148 0 ENST00000374228.4:c.1206C>T p.Ser402= p.S402= ENST00000374228 NM_033051.3 402 tcC/tcT 0 -SLC4A11 UCSF GRCh37 20 3211578 3211578 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 22 173 0 ENST00000380059.3:c.1297+1G>A p.X433_splice ENST00000380059 NM_001174090.1 0 -SLC4A3 UCSF GRCh37 2 220498145 220498145 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 5 72 0 ENST00000373762.3:c.1508C>T p.Ala503Val p.A503V ENST00000373762 NM_005070.3 503 gCc/gTc 0 -SLC4A3 UCSF GRCh37 2 220502411 220502411 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 268 47 392 0 ENST00000373762.3:c.2725G>A p.Gly909Ser p.G909S ENST00000373762 NM_005070.3 909 Ggc/Agc 0 -SLC4A4 UCSF GRCh37 4 72413408 72413408 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 16 186 0 ENST00000425175.1:c.2665C>T p.Leu889= p.L889= ENST00000425175 NM_001134742.1 889 Ctg/Ttg 0 -SLC5A12 UCSF GRCh37 11 26743097 26743097 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 174 27 195 0 ENST00000396005.3:c.165G>A p.Leu55= p.L55= ENST00000396005 NM_178498.3 55 ttG/ttA 0 -SLC5A4 UCSF GRCh37 22 32628991 32628991 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 13 68 0 ENST00000266086.4:c.916G>A p.Asp306Asn p.D306N ENST00000266086 NM_014227.2 306 Gac/Aac 0 -SLC6A11 UCSF GRCh37 3 10861192 10861192 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 168 23 241 0 ENST00000254488.2:c.299G>A p.Gly100Glu p.G100E ENST00000254488 NM_014229.1 100 gGa/gAa 0 -SLC6A19 UCSF GRCh37 5 1208922 1208922 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 5 51 0 ENST00000304460.10:c.264G>A p.Leu88= p.L88= ENST00000304460 NM_001003841.2 88 ctG/ctA 0 -SLC6A4 UCSF GRCh37 17 28542628 28542628 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 24 239 0 ENST00000401766.2:c.1076+1G>A p.X359_splice ENST00000401766 0 -SLC7A14 UCSF GRCh37 3 170198521 170198521 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 207 34 293 0 ENST00000231706.5:c.1550C>T p.Thr517Ile p.T517I ENST00000231706 NM_020949.2 517 aCc/aTc 0 -SLC9A3 UCSF GRCh37 5 482251 482251 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 11 97 0 ENST00000264938.3:c.1378G>A p.Val460Met p.V460M ENST00000264938 NM_004174.2 460 Gtg/Atg 0 -NHERF2 UCSF GRCh37 16 2086443 2086443 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 32 187 0 ENST00000424542.2:c.533C>T p.Ser178Phe p.S178F ENST00000424542 NM_001130012.2 178 tCt/tTt 0 -SLFN11 UCSF GRCh37 17 33689953 33689953 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 283 57 483 0 ENST00000394566.1:c.874C>T p.Pro292Ser p.P292S ENST00000394566 NM_001104587.1 292 Ccg/Tcg 0 -SLITRK2 UCSF GRCh37 X 144905964 144905964 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 49 200 0 ENST00000370490.1:c.2021C>T p.Thr674Ile p.T674I ENST00000370490 674 aCt/aTt 0 -SLITRK3 UCSF GRCh37 3 164906241 164906241 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 185 27 266 0 ENST00000475390.1:c.2378G>A p.Gly793Glu p.G793E ENST00000475390 793 gGa/gAa 0 -SLMAP UCSF GRCh37 3 57843847 57843847 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 13 193 0 ENST00000295951.3:c.648G>A p.Arg216= p.R216= ENST00000295951 216 cgG/cgA 0 -SMAD9 UCSF GRCh37 13 37441475 37441475 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 9 90 0 ENST00000379826.4:c.716C>T p.Thr239Ile p.T239I ENST00000379826 NM_001127217.2 239 aCc/aTc 0 -SMARCA4 UCSF GRCh37 19 11132499 11132499 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 19 94 0 ENST00000344626.4:c.2715C>T p.Arg905= p.R905= ENST00000344626 NM_003072.3 905 cgC/cgT 0 -SMARCC2 UCSF GRCh37 12 56575805 56575805 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 21 188 0 ENST00000267064.4:c.691C>T p.Pro231Ser p.P231S ENST00000267064 NM_003075.3 231 Cct/Tct 0 -SMARCD2 UCSF GRCh37 17 61914339 61914339 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 100 20 145 0 ENST00000448276.2:c.510C>T p.Asp170= p.D170= ENST00000448276 NM_001098426.1 170 gaC/gaT 0 -SMCR7 UCSF GRCh37 17 18167100 18167100 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 8 42 0 ENST00000395706.2:c.420G>A p.Glu140= p.E140= ENST00000395706 NM_148886.1 140 gaG/gaA 0 -SMCR8 UCSF GRCh37 17 18221380 18221380 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 316 60 443 0 ENST00000406438.3:c.2277C>T p.Cys759= p.C759= ENST00000406438 NM_144775.2 759 tgC/tgT 0 -SMG6 UCSF GRCh37 17 1989101 1989101 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 52 22 95 0 ENST00000263073.6:c.3452G>A p.Gly1151Glu p.G1151E ENST00000263073 NM_017575.4 1151 gGa/gAa 0 -SMG8 UCSF GRCh37 17 57288108 57288108 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 500 77 697 1 ENST00000543872.2:c.696G>A p.Gly232= p.G232= ENST00000543872 232 ggG/ggA 0 -SMOC2 UCSF GRCh37 6 168949859 168949859 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 8 90 0 ENST00000354536.5:c.646C>T p.Gln216Ter p.Q216* ENST00000354536 NM_022138.2 216 Cag/Tag 0 -SMTN UCSF GRCh37 22 31483980 31483980 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 9 93 0 ENST00000358743.1:c.81G>A p.Arg27= p.R27= ENST00000358743 NM_134270.2 27 cgG/cgA 0 -SNAPC4 UCSF GRCh37 9 139277901 139277901 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 49 124 0 ENST00000298532.2:c.1720C>T p.Pro574Ser p.P574S ENST00000298532 NM_003086.2 574 Cct/Tct 0 -SNAPC4 UCSF GRCh37 9 139270934 139270934 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 14 59 0 ENST00000298532.2:c.4285-1G>A p.X1429_splice ENST00000298532 NM_003086.2 0 -SMT-ND1 UCSF GRCh37 7 127361376 127361376 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 150 52 168 0 ENST00000354725.3:c.1074G>A p.Val358= p.V358= ENST00000354725 NM_014390.2 358 gtG/gtA 0 -SNIP1 UCSF GRCh37 1 38006318 38006318 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 323 60 502 0 ENST00000296215.6:c.366G>A p.Arg122= p.R122= ENST00000296215 NM_024700.3 122 cgG/cgA 0 -SNRNP35 UCSF GRCh37 12 123950397 123950397 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 35 212 0 ENST00000412157.2:c.325G>A p.Ala109Thr p.A109T ENST00000412157 NM_180699.3 109 Gcc/Acc 0 -SNRNP70 UCSF GRCh37 19 49601749 49601749 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 11 58 0 ENST00000598441.1:c.330+1G>A p.X110_splice ENST00000598441 0 -SNTG2 UCSF GRCh37 2 1204830 1204830 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 9 121 0 ENST00000308624.5:c.633G>A p.Arg211= p.R211= ENST00000308624 NM_018968.3 211 agG/agA 0 -SNX16 UCSF GRCh37 8 82752050 82752050 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 24 273 0 ENST00000396330.2:c.172C>T p.Pro58Ser p.P58S ENST00000396330 NM_022133.3 58 Cct/Tct 0 -SNX27 UCSF GRCh37 1 151584906 151584906 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 19 118 0 ENST00000368843.3:c.229C>T p.Pro77Ser p.P77S ENST00000368843 NM_030918.5 77 Ccg/Tcg 0 -SNX29 UCSF GRCh37 16 12571605 12571605 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 20 124 0 ENST00000566228.1:c.2067G>A p.Trp689Ter p.W689* ENST00000566228 NM_032167.3 689 tgG/tgA 0 -SNX8 UCSF GRCh37 7 2314805 2314805 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 22 195 0 ENST00000222990.3:c.360C>T p.Leu120= p.L120= ENST00000222990 NM_013321.2 120 ctC/ctT 0 -SOBP UCSF GRCh37 6 107955882 107955882 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 16 124 0 ENST00000317357.5:c.1834C>T p.Pro612Ser p.P612S ENST00000317357 NM_018013.3 612 Ccc/Tcc 0 -SORBS1 UCSF GRCh37 10 97192287 97192287 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 6 103 0 ENST00000371247.2:c.219C>T p.Leu73= p.L73= ENST00000371247 73 ctC/ctT 0 -SORBS3 UCSF GRCh37 8 22412459 22412459 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 8 47 0 ENST00000240123.7:c.186C>T p.Gly62= p.G62= ENST00000240123 NM_005775.4 62 ggC/ggT 0 -SORCS1 UCSF GRCh37 10 108366924 108366924 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 16 158 0 ENST00000344440.6:c.3165G>A p.Gln1055= p.Q1055= ENST00000344440 NM_001206571.1 1055 caG/caA 0 -SORL1 UCSF GRCh37 11 121498476 121498476 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 4 21 0 ENST00000260197.7:c.6577G>A p.Gly2193Arg p.G2193R ENST00000260197 NM_003105.5 2193 Ggg/Agg 0 -SOX11 UCSF GRCh37 2 5834108 5834108 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 139 30 184 0 ENST00000322002.3:c.1255C>T p.Pro419Ser p.P419S ENST00000322002 NM_003108.3 419 Ccg/Tcg 0 -SOX11 UCSF GRCh37 2 5833051 5833051 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 17 164 0 ENST00000322002.3:c.198G>A p.Lys66= p.K66= ENST00000322002 NM_003108.3 66 aaG/aaA 0 -SOX17 UCSF GRCh37 8 55370876 55370876 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 16 144 0 ENST00000297316.4:c.178G>A p.Gly60Ser p.G60S ENST00000297316 NM_022454.3 60 Ggc/Agc 0 -SOX4 UCSF GRCh37 6 21595585 21595585 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 6 71 0 ENST00000244745.1:c.820G>A p.Ala274Thr p.A274T ENST00000244745 NM_003107.2 274 Gca/Aca 0 -SP8 UCSF GRCh37 7 20824335 20824335 + missense_variant Missense_Mutation SNP G G C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 24 53 0 ENST00000418710.2:c.1101C>G p.Ser367Arg p.S367R ENST00000418710 NM_182700.4 367 agC/agG 0 -SPAG17 UCSF GRCh37 1 118539353 118539353 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 37 216 0 ENST00000336338.5:c.4790G>A p.Gly1597Asp p.G1597D ENST00000336338 NM_206996.2 1597 gGt/gAt 0 -SPAG17 UCSF GRCh37 1 118640307 118640307 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 210 40 317 0 ENST00000336338.5:c.997G>A p.Asp333Asn p.D333N ENST00000336338 NM_206996.2 333 Gat/Aat 0 -SPAM1 UCSF GRCh37 7 123593687 123593687 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 182 23 194 0 ENST00000340011.5:c.63C>T p.Ser21= p.S21= ENST00000340011 NM_003117.4 21 tcC/tcT 0 -SPATA13 UCSF GRCh37 13 24798455 24798455 + missense_variant,NMD_transcript_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 18 113 0 ENST00000382141.4:c.1388C>T p.Pro463Leu p.P463L ENST00000382141 463 cCt/cTt 0 -SPATA21 UCSF GRCh37 1 16736310 16736310 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 28 174 0 ENST00000335496.1:c.373C>T p.Pro125Ser p.P125S ENST00000335496 NM_198546.1 125 Cca/Tca 0 -SPATA22 UCSF GRCh37 17 3346536 3346536 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 14 240 0 ENST00000573128.1:c.832C>T p.Pro278Ser p.P278S ENST00000573128 278 Cca/Tca 0 -AFG2A UCSF GRCh37 4 123844347 123844347 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 241 46 315 0 ENST00000274008.4:c.50G>A p.Gly17Asp p.G17D ENST00000274008 NM_145207.2 17 gGt/gAt 0 -SPATS2 UCSF GRCh37 12 49883272 49883272 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 122 73 277 0 ENST00000553127.1:c.130C>T p.Pro44Ser p.P44S ENST00000553127 44 Cct/Tct 0 -SPATS2 UCSF GRCh37 12 49919843 49919843 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 29 202 0 ENST00000553127.1:c.1443G>A p.Trp481Ter p.W481* ENST00000553127 481 tgG/tgA 0 -SPEG UCSF GRCh37 2 220353344 220353344 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 13 127 0 ENST00000312358.7:c.7983C>T p.Asn2661= p.N2661= ENST00000312358 NM_005876.4 2661 aaC/aaT 0 -SPINT3 UCSF GRCh37 20 44144178 44144178 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 92 292 0 ENST00000217428.6:c.71C>T p.Ala24Val p.A24V ENST00000217428 NM_006652.1 24 gCa/gTa 0 -SPNS1 UCSF GRCh37 16 28993752 28993752 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 24 127 0 ENST00000311008.11:c.1041C>T p.Leu347= p.L347= ENST00000311008 NM_032038.2 347 ctC/ctT 0 -SPOPL UCSF GRCh37 2 139308548 139308548 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 15 124 0 ENST00000280098.4:c.276C>T p.Ser92= p.S92= ENST00000280098 NM_001001664.2 92 agC/agT 0 -SPRYD4 UCSF GRCh37 12 56863083 56863083 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 28 172 0 ENST00000338146.5:c.346G>A p.Gly116Ser p.G116S ENST00000338146 NM_207344.3 116 Ggt/Agt 0 -SPSB4 UCSF GRCh37 3 140784965 140784965 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 6 30 0 ENST00000310546.2:c.19G>A p.Gly7Arg p.G7R ENST00000310546 NM_080862.1 7 Ggg/Agg 0 -SPTAN1 UCSF GRCh37 9 131388710 131388710 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 6 74 0 ENST00000372739.3:c.6320C>T p.Ala2107Val p.A2107V ENST00000372739 NM_001130438.2 2107 gCc/gTc 0 -SPTB UCSF GRCh37 14 65216827 65216827 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 25 164 0 ENST00000389722.3:c.6648C>T p.Thr2216= p.T2216= ENST00000389722 NM_001024858.2 2216 acC/acT 0 -SPTBN1 UCSF GRCh37 2 54876290 54876290 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 6 17 0 ENST00000356805.4:c.5165G>A p.Gly1722Glu p.G1722E ENST00000356805 NM_003128.2 1722 gGg/gAg 0 -SPTBN2 UCSF GRCh37 11 66481114 66481114 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 17 187 0 ENST00000533211.1:c.760C>T p.Leu254= p.L254= ENST00000533211 254 Ctg/Ttg 0 -SPTBN2 UCSF GRCh37 11 66466553 66466553 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 363 58 456 0 ENST00000533211.1:c.3777G>A p.Arg1259= p.R1259= ENST00000533211 1259 agG/agA 0 -SPTBN4 UCSF GRCh37 19 41021267 41021267 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 6 28 0 ENST00000352632.3:c.2815G>A p.Asp939Asn p.D939N ENST00000352632 939 Gac/Aac 0 -SPTBN4 UCSF GRCh37 19 40993674 40993674 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 7 57 0 ENST00000352632.3:c.240C>T p.Cys80= p.C80= ENST00000352632 80 tgC/tgT 0 -SPTBN5 UCSF GRCh37 15 42144889 42144889 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 59 174 0 ENST00000320955.6:c.10392C>T p.Asp3464= p.D3464= ENST00000320955 NM_016642.3 3464 gaC/gaT 0 -SQSTM1 UCSF GRCh37 5 179250015 179250015 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 20 145 0 ENST00000389805.4:c.263C>T p.Ser88Phe p.S88F ENST00000389805 NM_003900.4 88 tCc/tTc 0 -SRCAP UCSF GRCh37 16 30715577 30715577 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 18 168 0 ENST00000262518.4:c.247G>A p.Ala83Thr p.A83T ENST00000262518 NM_006662.2 83 Gct/Act 0 -SREBF2 UCSF GRCh37 22 42280908 42280908 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 9 80 0 ENST00000361204.4:c.2101G>A p.Ala701Thr p.A701T ENST00000361204 NM_004599.3 701 Gct/Act 0 -SREBF2 UCSF GRCh37 22 42263059 42263059 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 417 70 556 0 ENST00000361204.4:c.313G>A p.Ala105Thr p.A105T ENST00000361204 NM_004599.3 105 Gcc/Acc 0 -SRGAP1 UCSF GRCh37 12 64536324 64536324 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 189 35 279 0 ENST00000355086.3:c.3130C>T p.Pro1044Ser p.P1044S ENST00000355086 NM_020762.2 1044 Ccc/Tcc 0 -SRGAP1 UCSF GRCh37 12 64410738 64410738 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 15 181 0 ENST00000355086.3:c.435G>A p.Glu145= p.E145= ENST00000355086 NM_020762.2 145 gaG/gaA 0 -SRM UCSF GRCh37 1 11116668 11116668 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 11 73 0 ENST00000376957.2:c.528C>T p.Asp176= p.D176= ENST00000376957 NM_003132.2 176 gaC/gaT 0 -SRRM2 UCSF GRCh37 16 2819002 2819002 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 84 216 0 ENST00000301740.8:c.7738C>T p.Pro2580Ser p.P2580S ENST00000301740 NM_016333.3 2580 Ccc/Tcc 0 -SRRM2 UCSF GRCh37 16 2806587 2806587 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 25 64 0 ENST00000301740.8:c.222G>A p.Glu74= p.E74= ENST00000301740 NM_016333.3 74 gaG/gaA 0 -SRRM3 UCSF GRCh37 7 75877587 75877587 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 6 26 0 ENST00000326382.8:c.315G>A p.Glu105= p.E105= ENST00000326382 NM_001110199.1 105 gaG/gaA 0 -SRRM5 UCSF GRCh37 19 44118416 44118416 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 99 20 146 0 ENST00000300811.3:c.41C>T p.Ala14Val p.A14V ENST00000300811 NM_182498.3 14 gCc/gTc 0 -SRY UCSF GRCh37 Y 2655091 2655091 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 17 113 0 ENST00000383070.1:c.554C>T p.Pro185Leu p.P185L ENST00000383070 NM_003140.2 185 cCc/cTc 0 -SSPN UCSF GRCh37 12 26348790 26348790 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 17 118 0 ENST00000242729.2:c.185C>T p.Ala62Val p.A62V ENST00000242729 NM_005086.4 62 gCc/gTc 0 -SSPO UCSF GRCh37 7 149488952 149488952 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 138 17 127 0 ENST00000378016.2:n.5293C>T *1765* ENST00000378016 0 -SSPO UCSF GRCh37 7 149479365 149479365 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 220 26 206 0 ENST00000378016.2:n.1878C>T *626* ENST00000378016 0 -SSTR1 UCSF GRCh37 14 38679367 38679367 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 62 205 0 ENST00000267377.2:c.773G>A p.Gly258Asp p.G258D ENST00000267377 NM_001049.2 258 gGc/gAc 0 -ST14 UCSF GRCh37 11 130068262 130068262 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 9 86 0 ENST00000278742.5:c.1519G>A p.Val507Ile p.V507I ENST00000278742 NM_021978.3 507 Gtc/Atc 0 -ST6GAL1 UCSF GRCh37 3 186760523 186760523 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 167 27 242 0 ENST00000169298.3:c.32G>A p.Ser11Asn p.S11N ENST00000169298 NM_173216.2 11 aGc/aAc 0 -ST6GALNAC1 UCSF GRCh37 17 74622111 74622111 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 18 104 0 ENST00000156626.7:c.1482C>T p.Asp494= p.D494= ENST00000156626 NM_018414.3 494 gaC/gaT 0 -STAB1 UCSF GRCh37 3 52554234 52554234 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 444 77 586 0 ENST00000321725.6:c.5427C>T p.Asp1809= p.D1809= ENST00000321725 NM_015136.2 1809 gaC/gaT 0 -STAG1 UCSF GRCh37 3 136068156 136068156 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 9 88 0 ENST00000383202.2:c.3115G>A p.Glu1039Lys p.E1039K ENST00000383202 NM_005862.2 1039 Gag/Aag 0 -STAG1 UCSF GRCh37 3 136136787 136136787 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 29 276 0 ENST00000383202.2:c.2136C>T p.Leu712= p.L712= ENST00000383202 NM_005862.2 712 ctC/ctT 0 -STARD7 UCSF GRCh37 2 96859011 96859011 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 214 34 361 0 ENST00000337288.5:c.629C>T p.Ser210Phe p.S210F ENST00000337288 NM_020151.3 210 tCc/tTc 0 -STAT5A UCSF GRCh37 17 40458446 40458446 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 4 22 0 ENST00000345506.4:c.1661C>T p.Ser554Phe p.S554F ENST00000345506 NM_003152.3 554 tCc/tTc 0 -STC2 UCSF GRCh37 5 172755116 172755116 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 79 289 0 ENST00000265087.4:c.81C>T p.Ala27= p.A27= ENST00000265087 NM_003714.2 27 gcC/gcT 0 -STIM2 UCSF GRCh37 4 27024410 27024410 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 369 67 566 0 ENST00000465503.1:c.2057C>T p.Ser686Phe p.S686F ENST00000465503 686 tCc/tTc 0 -STIM2 UCSF GRCh37 4 27004714 27004714 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 6 57 0 ENST00000465503.1:c.969G>A p.Gln323= p.Q323= ENST00000465503 323 caG/caA 0 -STK10 UCSF GRCh37 5 171510076 171510076 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 15 112 0 ENST00000176763.5:c.1698C>T p.Leu566= p.L566= ENST00000176763 NM_005990.3 566 ctC/ctT 0 -STK25 UCSF GRCh37 2 242441087 242441087 + missense_variant Missense_Mutation SNP G G A 1000g2011may_all_0.0010 P24_Rec2 Untested WXS Illumina HiSeq 235 42 378 0 ENST00000316586.4:c.67C>T p.Leu23Phe p.L23F ENST00000316586 NM_001282308.1 23 Ctc/Ttc 0 -STK4 UCSF GRCh37 20 43615866 43615866 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 24 225 0 ENST00000372806.3:c.454G>A p.Ala152Thr p.A152T ENST00000372806 NM_006282.2 152 Gca/Aca 0 -STK4 UCSF GRCh37 20 43623731 43623731 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 18 131 0 ENST00000372806.3:c.526G>A p.Asp176Asn p.D176N ENST00000372806 NM_006282.2 176 Gat/Aat 0 -STON1 UCSF GRCh37 2 48807954 48807954 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 296 45 506 0 ENST00000309835.3:c.182C>T p.Pro61Leu p.P61L ENST00000309835 61 cCt/cTt 0 -STT3A UCSF GRCh37 11 125482999 125482999 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 182 23 265 0 ENST00000392708.4:c.1481G>A p.Gly494Asp p.G494D ENST00000392708 NM_001278503.1 494 gGt/gAt 0 -STX17 UCSF GRCh37 9 102713352 102713352 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 123 23 191 0 ENST00000259400.6:c.200C>T p.Ser67Phe p.S67F ENST00000259400 NM_017919.2 67 tCc/tTc 0 -STX18 UCSF GRCh37 4 4440217 4440217 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 84 209 0 ENST00000306200.2:c.517C>T p.Pro173Ser p.P173S ENST00000306200 NM_016930.2 173 Cca/Tca 0 -STXBP5 UCSF GRCh37 6 147680301 147680301 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 24 242 0 ENST00000321680.6:c.2387C>T p.Ala796Val p.A796V ENST00000321680 NM_001127715.2 796 gCt/gTt 0 -STXBP5L UCSF GRCh37 3 120973866 120973866 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 16 157 0 ENST00000273666.6:c.1566G>A p.Trp522Ter p.W522* ENST00000273666 NM_014980.2 522 tgG/tgA 0 -SUGP2 UCSF GRCh37 19 19115330 19115330 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 573 83 621 0 ENST00000601879.1:c.2576G>A p.Gly859Asp p.G859D ENST00000601879 859 gGt/gAt 0 -SULT1C2 UCSF GRCh37 2 108921630 108921630 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 7 59 0 ENST00000326853.5:c.538G>A p.Val180Ile p.V180I ENST00000326853 NM_176825.2 180 Gtt/Att 0 -SUOX UCSF GRCh37 12 56397638 56397638 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 195 118 354 0 ENST00000394109.3:c.465C>T p.Tyr155= p.Y155= ENST00000394109 155 taC/taT 0 -SUPV3L1 UCSF GRCh37 10 70949174 70949174 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 8 86 0 ENST00000359655.4:c.724G>A p.Glu242Lys p.E242K ENST00000359655 NM_003171.3 242 Gaa/Aaa 0 -SURF2 UCSF GRCh37 9 136226929 136226929 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 8 89 0 ENST00000371964.4:c.441G>A p.Arg147= p.R147= ENST00000371964 NM_001278928.1 147 cgG/cgA 0 -SUV420H1 UCSF GRCh37 11 67926313 67926313 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 15 132 0 ENST00000304363.4:c.1500C>T p.Ala500= p.A500= ENST00000304363 NM_017635.3 500 gcC/gcT 0 -SV2B UCSF GRCh37 15 91769927 91769927 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 7 110 0 ENST00000394232.1:c.434C>T p.Ser145Phe p.S145F ENST00000394232 NM_014848.4 145 tCc/tTc 0 -SWT1 UCSF GRCh37 1 185259900 185259900 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 68 12 145 0 ENST00000367500.4:c.2668G>A p.Gly890Arg p.G890R ENST00000367500 NM_017673.6 890 Gga/Aga 0 -SYAP1 UCSF GRCh37 X 16773095 16773095 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 18 80 0 ENST00000380155.3:c.603C>T p.Asn201= p.N201= ENST00000380155 NM_032796.3 201 aaC/aaT 0 -SYMPK UCSF GRCh37 19 46331177 46331177 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 9 83 0 ENST00000245934.7:c.1986-1G>A p.X662_splice ENST00000245934 NM_004819.2 0 -SYMPK UCSF GRCh37 19 46355767 46355767 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 271 38 422 0 ENST00000245934.7:c.198C>T p.Asp66= p.D66= ENST00000245934 NM_004819.2 66 gaC/gaT 0 -SYN1 UCSF GRCh37 X 47478988 47478988 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 4 55 0 ENST00000295987.7:c.140G>A p.Gly47Glu p.G47E ENST00000295987 NM_006950.3 47 gGg/gAg 0 -SYNE1 UCSF GRCh37 6 152725353 152725353 + missense_variant Missense_Mutation SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 23 101 0 ENST00000367255.5:c.6820C>A p.Leu2274Ile p.L2274I ENST00000367255 NM_182961.3 2274 Ctt/Att 0 -SYNE1 UCSF GRCh37 6 152665324 152665324 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 19 89 0 ENST00000367255.5:c.12117C>T p.Val4039= p.V4039= ENST00000367255 NM_182961.3 4039 gtC/gtT 0 -SYNE2 UCSF GRCh37 14 64626029 64626029 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 22 178 0 ENST00000358025.3:c.15964-1G>A p.X5322_splice ENST00000358025 NM_182914.2 0 -SYT16 UCSF GRCh37 14 62547594 62547594 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 14 75 0 ENST00000430451.2:c.1036G>A p.Glu346Lys p.E346K ENST00000430451 NM_031914.2 346 Gag/Aag 0 -SYT5 UCSF GRCh37 19 55686648 55686648 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 26 153 1 ENST00000354308.3:c.600C>T p.Arg200= p.R200= ENST00000354308 NM_003180.2 200 cgC/cgT 0 -SYT9 UCSF GRCh37 11 7324534 7324534 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 13 71 0 ENST00000318881.6:c.410C>T p.Pro137Leu p.P137L ENST00000318881 NM_175733.3 137 cCc/cTc 0 -SZT2 UCSF GRCh37 1 43893377 43893377 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 6 48 0 ENST00000562955.1:c.3604C>T p.Pro1202Ser p.P1202S ENST00000562955 NM_015284.3 1202 Cct/Tct 0 -SZT2 UCSF GRCh37 1 43894075 43894075 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 17 97 0 ENST00000562955.1:c.3913C>T p.Pro1305Ser p.P1305S ENST00000562955 NM_015284.3 1305 Cct/Tct 0 -SZT2 UCSF GRCh37 1 43898012 43898012 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 156 25 239 0 ENST00000562955.1:c.5173G>A p.Ala1725Thr p.A1725T ENST00000562955 NM_015284.3 1725 Gca/Aca 0 -SZT2 UCSF GRCh37 1 43911930 43911930 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 12 144 0 ENST00000562955.1:c.8826G>A p.Gln2942= p.Q2942= ENST00000562955 NM_015284.3 2942 caG/caA 0 -TAAR9 UCSF GRCh37 6 132859688 132859688 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 315 52 425 0 ENST00000434551.1:c.260C>T p.Pro87Leu p.P87L ENST00000434551 NM_175057.3 87 cCc/cTc 0 -TAAR9 UCSF GRCh37 6 132859645 132859645 + missense_variant Missense_Mutation SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 312 49 408 0 ENST00000434551.1:c.217T>C p.Ser73Pro p.S73P ENST00000434551 NM_175057.3 73 Tcg/Ccg 0 -TACC1 UCSF GRCh37 8 38699936 38699936 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 21 131 0 ENST00000317827.4:c.2092C>G p.Leu698Val p.L698V ENST00000317827 NM_006283.2 698 Ctg/Gtg 0 -TACC3 UCSF GRCh37 4 1739337 1739337 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 15 120 0 ENST00000313288.4:c.1849C>T p.Pro617Ser p.P617S ENST00000313288 NM_006342.2 617 Ccc/Tcc 0 -TACR3 UCSF GRCh37 4 104579464 104579464 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 103 68 240 0 ENST00000304883.2:c.645C>T p.Ala215= p.A215= ENST00000304883 NM_001059.2 215 gcC/gcT 0 -TACSTD2 UCSF GRCh37 1 59042226 59042226 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 23 224 0 ENST00000371225.2:c.603C>T p.Ile201= p.I201= ENST00000371225 NM_002353.2 201 atC/atT 0 -TACSTD2 UCSF GRCh37 1 59042664 59042664 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 100 13 108 0 ENST00000371225.2:c.165C>T p.Cys55= p.C55= ENST00000371225 NM_002353.2 55 tgC/tgT 0 -TADA2B UCSF GRCh37 4 7056411 7056411 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 14 144 0 ENST00000310074.7:c.893G>A p.Gly298Glu p.G298E ENST00000310074 NM_152293.2 298 gGg/gAg 0 -TADA3 UCSF GRCh37 3 9829012 9829012 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 9 70 0 ENST00000301964.2:c.577G>A p.Gly193Arg p.G193R ENST00000301964 NM_006354.3 193 Ggg/Agg 0 -TAF9 UCSF GRCh37 5 68661436 68661436 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 341 45 482 0 ENST00000328663.4:c.129C>T p.Ala43= p.A43= ENST00000328663 NM_001015892.1 43 gcC/gcT 0 -TAOK3 UCSF GRCh37 12 118590125 118590125 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 405 76 566 0 ENST00000392533.3:c.2442C>T p.Ser814= p.S814= ENST00000392533 NM_016281.3 814 agC/agT 0 -TAP2 UCSF GRCh37 6 32800159 32800159 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 30 202 0 ENST00000374899.4:c.1223G>A p.Ser408Asn p.S408N ENST00000374899 NM_018833.2 408 aGc/aAc 0 -TAP2 UCSF GRCh37 6 32805988 32805988 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 23 7 43 0 ENST00000374899.4:c.23C>T p.Pro8Leu p.P8L ENST00000374899 NM_018833.2 8 cCc/cTc 0 -TARS UCSF GRCh37 5 33462252 33462252 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 18 79 0 ENST00000455217.2:c.1878C>T p.Ile626= p.I626= ENST00000455217 NM_001258438.1 626 atC/atT 0 -TAS1R2 UCSF GRCh37 1 19166441 19166441 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 111 24 183 0 ENST00000375371.3:c.2172C>T p.Tyr724= p.Y724= ENST00000375371 NM_152232.2 724 taC/taT 0 -TAS2R16 UCSF GRCh37 7 122634918 122634918 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 342 45 394 0 ENST00000249284.2:c.771G>A p.Trp257Ter p.W257* ENST00000249284 NM_016945.2 257 tgG/tgA 0 -TBC1D1 UCSF GRCh37 4 38138876 38138876 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 9 52 0 ENST00000261439.4:c.3427G>A p.Val1143Met p.V1143M ENST00000261439 NM_015173.3 1143 Gtg/Atg 0 -TBC1D16 UCSF GRCh37 17 77984245 77984245 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 108 17 140 0 ENST00000310924.2:c.493G>A p.Ala165Thr p.A165T ENST00000310924 NM_019020.3 165 Gcg/Acg 0 -TBC1D24 UCSF GRCh37 16 2548302 2548302 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 144 17 161 0 ENST00000293970.5:c.1047G>A p.Glu349= p.E349= ENST00000293970 NM_001199107.1 349 gaG/gaA 0 -TBC1D24 UCSF GRCh37 16 2549836 2549836 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 47 27 73 0 ENST00000293970.5:c.1207G>A p.Val403Met p.V403M ENST00000293970 NM_001199107.1 403 Gtg/Atg 0 -TBC1D2B UCSF GRCh37 15 78369778 78369778 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 21 4 35 0 ENST00000300584.3:c.217C>T p.Pro73Ser p.P73S ENST00000300584 NM_144572.1 73 Ccg/Tcg 0 -TBC1D9 UCSF GRCh37 4 141543756 141543756 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 24 253 0 ENST00000442267.2:c.3394G>A p.Asp1132Asn p.D1132N ENST00000442267 NM_015130.2 1132 Gac/Aac 0 -TBX19 UCSF GRCh37 1 168260609 168260609 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 12 74 0 ENST00000367821.3:c.415C>T p.Pro139Ser p.P139S ENST00000367821 NM_005149.2 139 Ccc/Tcc 0 -TBX20 UCSF GRCh37 7 35289735 35289735 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 5 47 0 ENST00000408931.3:c.208G>A p.Gly70Ser p.G70S ENST00000408931 NM_001077653.2 70 Ggc/Agc 0 -TBX4 UCSF GRCh37 17 59534957 59534957 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 15 90 0 ENST00000240335.1:c.246G>A p.Glu82= p.E82= ENST00000240335 NM_018488.2 82 gaG/gaA 0 -TCF25 UCSF GRCh37 16 89954120 89954120 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 3 68 0 ENST00000263346.8:c.609G>A p.Glu203= p.E203= ENST00000263346 NM_014972.2 203 gaG/gaA 0 -TCF7L1 UCSF GRCh37 2 85532455 85532455 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 38 199 0 ENST00000282111.3:c.918C>T p.Pro306= p.P306= ENST00000282111 NM_031283.2 306 ccC/ccT 0 -TCFL5 UCSF GRCh37 20 61488834 61488834 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 305 83 457 0 ENST00000335351.3:c.1151C>T p.Ala384Val p.A384V ENST00000335351 NM_006602.2 384 gCa/gTa 0 -TCHH UCSF GRCh37 1 152083914 152083914 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 480 100 754 0 ENST00000368804.1:c.1779G>A p.Glu593= p.E593= ENST00000368804 NM_007113.3 593 gaG/gaA 0 -TCIRG1 UCSF GRCh37 11 67815257 67815257 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 18 134 0 ENST00000265686.3:c.1449C>T p.Asn483= p.N483= ENST00000265686 NM_006019.3 483 aaC/aaT 0 -TCN2 UCSF GRCh37 22 31010439 31010439 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 8 48 0 ENST00000215838.3:c.531C>T p.Asp177= p.D177= ENST00000215838 177 gaC/gaT 0 -TCTE1 UCSF GRCh37 6 44250156 44250156 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 17 112 0 ENST00000371505.4:c.987G>A p.Lys329= p.K329= ENST00000371505 NM_182539.3 329 aaG/aaA 0 -TDP1 UCSF GRCh37 14 90429642 90429642 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 23 153 0 ENST00000335725.4:c.184C>T p.Pro62Ser p.P62S ENST00000335725 NM_018319.3 62 Cct/Tct 0 -TDRD7 UCSF GRCh37 9 100222459 100222459 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 22 85 0 ENST00000355295.4:c.856-1G>A p.X286_splice ENST00000355295 NM_014290.2 0 -TDRD9 UCSF GRCh37 14 104484461 104484461 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 8 105 0 ENST00000409874.4:c.2364C>T p.Tyr788= p.Y788= ENST00000409874 NM_153046.2 788 taC/taT 0 -TEC 7006 UCSF GRCh37 4 48230504 48230504 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 10 87 0 ENST00000381501.3:c.128G>A p.Gly43Asp p.G43D ENST00000381501 NM_003215.2 43 gGt/gAt 0 -TEKT3 UCSF GRCh37 17 15231345 15231345 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 27 193 0 ENST00000395930.1:c.627C>T p.Asp209= p.D209= ENST00000395930 NM_031898.2 209 gaC/gaT 0 -TEKT4 UCSF GRCh37 2 95542486 95542486 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 19 272 0 ENST00000295201.4:c.1280C>T p.Thr427Ile p.T427I ENST00000295201 NM_144705.2 427 aCc/aTc 0 -TET1 UCSF GRCh37 10 70412308 70412308 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 19 148 0 ENST00000373644.4:c.4418G>A p.Gly1473Asp p.G1473D ENST00000373644 NM_030625.2 1473 gGt/gAt 0 -TFAP2A UCSF GRCh37 6 10410254 10410254 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 19 126 0 ENST00000379604.2:c.360C>T p.Gly120= p.G120= ENST00000379604 NM_003220.2 120 ggC/ggT 0 -TFAP2D UCSF GRCh37 6 50712900 50712900 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 29 131 0 ENST00000008391.3:c.964G>A p.Ala322Thr p.A322T ENST00000008391 NM_172238.3 322 Gcc/Acc 0 -TFE3 UCSF GRCh37 X 48891659 48891659 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 19 87 0 ENST00000315869.7:c.993G>A p.Arg331= p.R331= ENST00000315869 NM_006521.4 331 cgG/cgA 0 -TGFB1 UCSF GRCh37 19 41858729 41858729 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 15 62 0 ENST00000221930.5:c.221C>T p.Pro74Leu p.P74L ENST00000221930 NM_000660.4 74 cCc/cTc 0 -THAP10 UCSF GRCh37 15 71184308 71184308 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 8 90 0 ENST00000249861.4:c.304G>A p.Glu102Lys p.E102K ENST00000249861 NM_020147.3 102 Gag/Aag 0 -THAP8 UCSF GRCh37 19 36526365 36526365 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 23 186 0 ENST00000292894.1:c.802G>A p.Asp268Asn p.D268N ENST00000292894 NM_152658.2 268 Gac/Aac 0 -THBS2 UCSF GRCh37 6 169646295 169646295 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 11 112 0 ENST00000366787.3:c.691G>A p.Gly231Arg p.G231R ENST00000366787 NM_003247.2 231 Gga/Aga 0 -THBS2 UCSF GRCh37 6 169622376 169622376 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 9 72 0 ENST00000366787.3:c.3189G>A p.Val1063= p.V1063= ENST00000366787 NM_003247.2 1063 gtG/gtA 0 -THBS3 UCSF GRCh37 1 155172176 155172176 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 19 130 0 ENST00000368378.3:c.974C>T p.Pro325Leu p.P325L ENST00000368378 NM_007112.4 325 cCc/cTc 0 -THRAP3 UCSF GRCh37 1 36752234 36752234 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 229 140 422 0 ENST00000354618.5:c.403C>T p.Pro135Ser p.P135S ENST00000354618 NM_005119.3 135 Cct/Tct 0 -THSD7B UCSF GRCh37 2 137990496 137990496 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 26 192 0 ENST00000272643.3:c.1943C>T p.Ala648Val p.A648V ENST00000272643 648 gCt/gTt 0 -THSD7B UCSF GRCh37 2 138378229 138378229 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 92 11 134 1 ENST00000272643.3:c.3741C>T p.Cys1247= p.C1247= ENST00000272643 1247 tgC/tgT 0 -TIAM1 UCSF GRCh37 21 32617945 32617945 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 11 94 0 ENST00000286827.3:c.1443C>T p.Gly481= p.G481= ENST00000286827 NM_003253.2 481 ggC/ggT 0 -TIAM2 UCSF GRCh37 6 155577830 155577830 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 10 62 0 ENST00000461783.3:c.4681C>T p.Leu1561Phe p.L1561F ENST00000461783 1561 Ctc/Ttc 0 -TIGD5 UCSF GRCh37 8 144680968 144680968 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 23 166 0 ENST00000504548.2:c.895G>A p.Asp299Asn p.D299N ENST00000504548 NM_032862.4 299 Gac/Aac 0 -TIGD6 UCSF GRCh37 5 149375414 149375414 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 339 48 567 0 ENST00000296736.3:c.498G>A p.Leu166= p.L166= ENST00000296736 NM_030953.3 166 ctG/ctA 0 -TIMELESS UCSF GRCh37 12 56822416 56822416 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 8 47 0 ENST00000553532.1:c.1325C>T p.Ala442Val p.A442V ENST00000553532 442 gCc/gTc 0 -TIMP3 UCSF GRCh37 22 33255238 33255238 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 76 16 142 0 ENST00000266085.6:c.510C>T p.Ser170= p.S170= ENST00000266085 NM_000362.4 170 tcC/tcT 0 -TINAG UCSF GRCh37 6 54212223 54212223 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 26 233 0 ENST00000259782.4:c.807C>T p.Ser269= p.S269= ENST00000259782 NM_014464.3 269 tcC/tcT 0 -TINAG UCSF GRCh37 6 54185408 54185408 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 17 175 0 ENST00000259782.4:c.387G>A p.Glu129= p.E129= ENST00000259782 NM_014464.3 129 gaG/gaA 0 -TKT UCSF GRCh37 3 53275214 53275214 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 167 25 258 0 ENST00000423516.1:c.273C>T p.Phe91= p.F91= ENST00000423516 NM_001258028.1 91 ttC/ttT 0 -TLCD1 UCSF GRCh37 17 27051565 27051565 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 26 142 0 ENST00000292090.3:c.707C>T p.Pro236Leu p.P236L ENST00000292090 NM_138463.3 236 cCc/cTc 0 -TLE1 UCSF GRCh37 9 84200524 84200524 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 5 70 0 ENST00000376499.3:c.2024G>A p.Gly675Asp p.G675D ENST00000376499 NM_005077.3 675 gGc/gAc 0 -TLE1 UCSF GRCh37 9 84249150 84249150 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 29 77 0 ENST00000376499.3:c.439C>T p.Pro147Ser p.P147S ENST00000376499 NM_005077.3 147 Cct/Tct 0 -TLK2 UCSF GRCh37 17 60598179 60598179 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 14 4 34 0 ENST00000346027.5:c.127G>A p.Gly43Arg p.G43R ENST00000346027 NM_006852.3 43 Gga/Aga 0 -TLK2 UCSF GRCh37 17 60598172 60598172 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 16 4 35 1 ENST00000346027.5:c.120C>T p.Cys40= p.C40= ENST00000346027 NM_006852.3 40 tgC/tgT 0 -TLN1 UCSF GRCh37 9 35711782 35711782 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 102 32 282 0 ENST00000314888.9:c.3689C>T p.Pro1230Leu p.P1230L ENST00000314888 NM_006289.3 1230 cCt/cTt 0 -TLX2 UCSF GRCh37 2 74742762 74742762 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 15 119 0 ENST00000233638.7:c.403G>A p.Ala135Thr p.A135T ENST00000233638 NM_016170.4 135 Gcg/Acg 0 -TM2D1 UCSF GRCh37 1 62175098 62175098 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 16 191 1 ENST00000371180.2:c.436C>T p.Pro146Ser p.P146S ENST00000371180 NM_032027.2 146 Cca/Tca 0 -TM4SF5 UCSF GRCh37 17 4675277 4675277 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 188 39 253 1 ENST00000270560.3:c.60C>T p.Val20= p.V20= ENST00000270560 NM_003963.2 20 gtC/gtT 0 -TM9SF2 UCSF GRCh37 13 100206648 100206648 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 210 31 283 0 ENST00000376387.4:c.1579G>A p.Gly527Arg p.G527R ENST00000376387 NM_004800.2 527 Gga/Aga 0 -TMC6 UCSF GRCh37 17 76122428 76122428 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 14 108 0 ENST00000590602.1:c.201C>T p.Leu67= p.L67= ENST00000590602 67 ctC/ctT 0 -TMC7 UCSF GRCh37 16 19033040 19033040 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 9 119 0 ENST00000304381.5:c.550C>T p.Leu184= p.L184= ENST00000304381 NM_024847.3 184 Ctg/Ttg 0 -TMCC2 UCSF GRCh37 1 205238657 205238657 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 192 24 295 0 ENST00000358024.3:c.1327G>A p.Ala443Thr p.A443T ENST00000358024 NM_014858.3 443 Gcc/Acc 0 -TMED3 UCSF GRCh37 15 79614385 79614385 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 15 155 0 ENST00000299705.5:c.483C>T p.Tyr161= p.Y161= ENST00000299705 NM_007364.2 161 taC/taT 0 -TMEM119 UCSF GRCh37 12 108985533 108985533 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 244 40 321 0 ENST00000392806.3:c.627G>A p.Glu209= p.E209= ENST00000392806 NM_181724.2 209 gaG/gaA 0 -TMEM130 UCSF GRCh37 7 98460878 98460878 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 24 259 0 ENST00000416379.2:c.231C>T p.Thr77= p.T77= ENST00000416379 77 acC/acT 0 -TMEM132D UCSF GRCh37 12 130184605 130184605 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 242 45 355 0 ENST00000422113.2:c.718G>A p.Val240Ile p.V240I ENST00000422113 NM_133448.2 240 Gtc/Atc 0 -TMEM132D UCSF GRCh37 12 130185023 130185023 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 29 235 0 ENST00000422113.2:c.300C>T p.Phe100= p.F100= ENST00000422113 NM_133448.2 100 ttC/ttT 0 -TMEM132E UCSF GRCh37 17 32962033 32962033 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 15 94 0 ENST00000321639.5:c.1634G>A p.Gly545Asp p.G545D ENST00000321639 NM_207313.1 545 gGc/gAc 0 -TMEM132E UCSF GRCh37 17 32965084 32965084 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 5 38 0 ENST00000321639.5:c.2788A>G p.Thr930Ala p.T930A ENST00000321639 NM_207313.1 930 Acg/Gcg 0 -TMEM169 UCSF GRCh37 2 216960818 216960818 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 5 55 0 ENST00000454545.1:c.132G>A p.Arg44= p.R44= ENST00000454545 NM_001142310.1 44 agG/agA 0 -TMEM181 UCSF GRCh37 6 158957817 158957817 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 28 8 54 0 ENST00000367090.3:c.339G>A p.Lys113= p.K113= ENST00000367090 NM_020823.1 113 aaG/aaA 0 -TMEM201 UCSF GRCh37 1 9661372 9661372 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 234 48 260 0 ENST00000340381.6:c.816G>A p.Arg272= p.R272= ENST00000340381 NM_001130924.2 272 cgG/cgA 0 -TMEM222 UCSF GRCh37 1 27660449 27660449 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 15 116 0 ENST00000374076.4:c.312G>A p.Lys104= p.K104= ENST00000374076 NM_032125.2 104 aaG/aaA 0 -TMEM25 UCSF GRCh37 11 118403728 118403728 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 157 21 165 0 ENST00000313236.5:c.479C>T p.Pro160Leu p.P160L ENST00000313236 NM_032780.3 160 cCg/cTg 0 -TMEM42 UCSF GRCh37 3 44903518 44903518 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 4 37 0 ENST00000302392.4:c.102G>A p.Arg34= p.R34= ENST00000302392 NM_144638.1 34 cgG/cgA 0 -TMEM53 UCSF GRCh37 1 45120392 45120392 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 73 12 106 0 ENST00000372237.3:c.673G>A p.Ala225Thr p.A225T ENST00000372237 NM_024587.2 225 Gcc/Acc 0 -TMEM55B UCSF GRCh37 14 20927400 20927400 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 20 71 0 ENST00000398020.4:c.676G>C p.Gly226Arg p.G226R ENST00000398020 NM_144568.2 226 Ggc/Cgc 0 -TMEM59 UCSF GRCh37 1 54518683 54518683 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 15 76 0 ENST00000234831.5:c.179C>T p.Thr60Ile p.T60I ENST00000234831 NM_004872.3 60 aCc/aTc 0 -TMEM62 UCSF GRCh37 15 43470893 43470893 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 10 141 0 ENST00000260403.2:c.1470C>T p.Thr490= p.T490= ENST00000260403 NM_024956.3 490 acC/acT 0 -TMEM8A UCSF GRCh37 16 427491 427491 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 20 95 0 ENST00000431232.2:c.394C>T p.Pro132Ser p.P132S ENST00000431232 NM_021259.2 132 Ccg/Tcg 0 -TMPRSS11A UCSF GRCh37 4 68788560 68788560 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 21 151 0 ENST00000334830.7:c.614C>T p.Ala205Val p.A205V ENST00000334830 205 gCt/gTt 0 -TMPRSS3 UCSF GRCh37 21 43808636 43808636 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 13 92 0 ENST00000291532.3:c.323-1G>A p.X108_splice ENST00000291532 NM_032404.2 0 -TMPRSS9 UCSF GRCh37 19 2415743 2415743 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 15 96 0 ENST00000332578.3:c.1547C>T p.Pro516Leu p.P516L ENST00000332578 NM_182973.1 516 cCc/cTc 0 -TMTC2 UCSF GRCh37 12 83251288 83251288 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 16 119 0 ENST00000321196.3:c.583G>A p.Val195Ile p.V195I ENST00000321196 NM_152588.1 195 Gtt/Att 0 -TNC UCSF GRCh37 9 117822222 117822222 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 15 154 0 ENST00000350763.4:c.4093C>T p.Leu1365Phe p.L1365F ENST00000350763 NM_002160.3 1365 Ctc/Ttc 0 -TNC UCSF GRCh37 9 117797614 117797614 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 5 72 0 ENST00000350763.4:c.5657-1G>A p.X1886_splice ENST00000350763 NM_002160.3 0 -TNFAIP3 UCSF GRCh37 6 138196016 138196016 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 19 70 0 ENST00000237289.4:c.330G>A p.Gln110= p.Q110= ENST00000237289 NM_001270507.1 110 caG/caA 0 -TNFRSF12A UCSF GRCh37 16 3071622 3071622 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 9 103 0 ENST00000326577.4:c.266C>T p.Thr89Ile p.T89I ENST00000326577 NM_016639.2 89 aCc/aTc 0 -TNFRSF12A UCSF GRCh37 16 3071303 3071303 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 18 3 30 0 ENST00000326577.4:c.182G>A p.Ser61Asn p.S61N ENST00000326577 NM_016639.2 61 aGc/aAc 0 -TNFRSF4 UCSF GRCh37 1 1149139 1149139 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 5 59 0 ENST00000379236.3:c.172C>T p.Arg58Cys p.R58C ENST00000379236 NM_003327.3 58 Cgc/Tgc 0 -TNN UCSF GRCh37 1 175063312 175063312 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 8 88 0 ENST00000239462.4:c.1511G>A p.Gly504Glu p.G504E ENST00000239462 NM_022093.1 504 gGa/gAa 0 -TNNI3 UCSF GRCh37 19 55666175 55666175 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 426 74 506 0 ENST00000344887.5:c.306C>T p.Ala102= p.A102= ENST00000344887 NM_000363.4 102 gcC/gcT 0 -TNR UCSF GRCh37 1 175304879 175304879 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 43 181 0 ENST00000367674.2:c.3599G>A p.Gly1200Asp p.G1200D ENST00000367674 1200 gGc/gAc 0 -TNRC6A UCSF GRCh37 16 24802848 24802848 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 19 216 0 ENST00000395799.3:c.2885C>T p.Thr962Ile p.T962I ENST00000395799 NM_014494.2 962 aCa/aTa 0 -TNRC6A UCSF GRCh37 16 24802814 24802814 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 154 33 236 0 ENST00000395799.3:c.2851G>A p.Asp951Asn p.D951N ENST00000395799 NM_014494.2 951 Gac/Aac 0 -TNRC6B UCSF GRCh37 22 40708906 40708906 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 190 35 272 0 ENST00000454349.2:c.4583G>A p.Gly1528Glu p.G1528E ENST00000454349 NM_001162501.1 1528 gGg/gAg 0 -TNS1 UCSF GRCh37 2 218682831 218682831 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 47 116 0 ENST00000171887.4:c.3912C>T p.Leu1304= p.L1304= ENST00000171887 NM_022648.4 1304 ctC/ctT 0 -TOM1 UCSF GRCh37 22 35713910 35713910 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 179 29 249 1 ENST00000411850.1:c.93C>T p.Ala31= p.A31= ENST00000411850 NM_001135732.1 31 gcC/gcT 0 -TOM1L2 UCSF GRCh37 17 17810816 17810816 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 8 52 0 ENST00000379504.3:c.82G>A p.Glu28Lys p.E28K ENST00000379504 NM_001082968.1 28 Gag/Aag 0 -TOMM20L UCSF GRCh37 14 58862680 58862680 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 7 68 0 ENST00000360945.2:c.5C>T p.Pro2Leu p.P2L ENST00000360945 NM_207377.2 2 cCc/cTc 0 -TOP3B UCSF GRCh37 22 22323107 22323107 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 79 13 133 0 ENST00000398793.2:c.622G>A p.Asp208Asn p.D208N ENST00000398793 NM_003935.3 208 Gac/Aac 0 -TOPBP1 UCSF GRCh37 3 133376764 133376764 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 5 47 0 ENST00000260810.5:c.241C>T p.Pro81Ser p.P81S ENST00000260810 NM_007027.3 81 Cct/Tct 0 -TOR1A UCSF GRCh37 9 132584870 132584870 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 184 38 267 0 ENST00000351698.4:c.434C>T p.Thr145Ile p.T145I ENST00000351698 NM_000113.2 145 aCc/aTc 0 -TOR1B UCSF GRCh37 9 132571844 132571844 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 18 172 0 ENST00000259339.2:c.993G>A p.Ser331= p.S331= ENST00000259339 NM_014506.1 331 tcG/tcA 0 -TOX2 UCSF GRCh37 20 42694411 42694411 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 30 209 0 ENST00000341197.4:c.1020C>T p.Leu340= p.L340= ENST00000341197 NM_001098797.1 340 ctC/ctT 0 -TP53 UCSF GRCh37 17 7576858 7576858 + frameshift_variant Frame_Shift_Del DEL G G - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 128 0 ENST00000269305.4:c.988delC p.Leu330PhefsTer15 p.L330Ffs*15 ENST00000269305 NM_001126112.2 330 Ctt/tt 0 -TP53I11 UCSF GRCh37 11 44958415 44958415 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 32 8 28 0 ENST00000533940.1:c.273C>T p.Val91= p.V91= ENST00000533940 NM_001258320.1 91 gtC/gtT 0 -TP73 UCSF GRCh37 1 3599662 3599662 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 97 25 154 0 ENST00000378295.4:c.104G>A p.Ser35Asn p.S35N ENST00000378295 NM_005427.3 35 aGc/aAc 0 -TPP2 UCSF GRCh37 13 103326689 103326689 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 17 4 36 0 ENST00000376065.4:c.3389C>T p.Ala1130Val p.A1130V ENST00000376065 NM_003291.2 1130 gCc/gTc 0 -TRADD UCSF GRCh37 16 67188669 67188669 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 25 194 0 ENST00000345057.4:c.822G>A p.Gln274= p.Q274= ENST00000345057 NM_003789.3 274 caG/caA 0 -TRAK2 UCSF GRCh37 2 202260088 202260088 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 199 37 268 0 ENST00000332624.3:c.849G>A p.Glu283= p.E283= ENST00000332624 NM_015049.2 283 gaG/gaA 0 -TRAM2 UCSF GRCh37 6 52370449 52370449 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 100 68 175 0 ENST00000182527.3:c.823G>A p.Glu275Lys p.E275K ENST00000182527 NM_012288.3 275 Gaa/Aaa 0 -TRAPPC10 UCSF GRCh37 21 45514041 45514041 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 14 125 0 ENST00000291574.4:c.3095C>T p.Ser1032Phe p.S1032F ENST00000291574 NM_003274.4 1032 tCc/tTc 0 -TRAPPC8 UCSF GRCh37 18 29522635 29522635 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 13 87 0 ENST00000283351.4:c.93C>T p.Leu31= p.L31= ENST00000283351 NM_014939.3 31 ctC/ctT 0 -TRIM29 UCSF GRCh37 11 120008482 120008482 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 23 196 0 ENST00000341846.5:c.258G>A p.Gly86= p.G86= ENST00000341846 NM_012101.3 86 ggG/ggA 0 -TRIM38 UCSF GRCh37 6 25972150 25972150 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 117 16 162 0 ENST00000357085.3:c.561G>A p.Gln187= p.Q187= ENST00000357085 NM_006355.3 187 caG/caA 0 -TRIM46 UCSF GRCh37 1 155156634 155156634 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 221 37 301 0 ENST00000334634.4:c.2248G>A p.Val750Ile p.V750I ENST00000334634 NM_001282378.1 750 Gtc/Atc 0 -TRIM59 UCSF GRCh37 3 160156831 160156831 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 19 171 0 ENST00000309784.4:c.141G>A p.Trp47Ter p.W47* ENST00000309784 NM_173084.2 47 tgG/tgA 0 -TRIM6 UCSF GRCh37 11 5624670 5624670 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 43 178 0 ENST00000354852.5:c.212G>A p.Gly71Asp p.G71D ENST00000354852 NM_001003819.3 71 gGc/gAc 0 -TRIM6 UCSF GRCh37 11 5631473 5631473 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 14 128 0 ENST00000354852.5:c.956G>A p.Arg319Lys p.R319K ENST00000354852 NM_001003819.3 319 aGa/aAa 0 -TRIM69 UCSF GRCh37 15 45051860 45051860 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 12 145 0 ENST00000559390.1:c.836G>A p.Ser279Asn p.S279N ENST00000559390 279 aGc/aAc 0 -TRIM8 UCSF GRCh37 10 104416075 104416075 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 20 163 0 ENST00000302424.7:c.981C>T p.His327= p.H327= ENST00000302424 NM_030912.2 327 caC/caT 0 -TRIOBP UCSF GRCh37 22 38121147 38121147 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 378 62 565 1 ENST00000406386.3:c.2584G>A p.Asp862Asn p.D862N ENST00000406386 NM_001039141.2 862 Gac/Aac 0 -TRIP11 UCSF GRCh37 14 92505980 92505980 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 4 46 0 ENST00000267622.4:c.50G>A p.Gly17Asp p.G17D ENST00000267622 NM_004239.3 17 gGt/gAt 0 -TRMT11 UCSF GRCh37 6 126329619 126329619 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 148 25 200 0 ENST00000334379.5:c.760+1G>A p.X254_splice ENST00000334379 NM_001031712.2 0 -TRO UCSF GRCh37 X 54949066 54949066 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 15 135 0 ENST00000173898.7:c.101C>T p.Thr34Ile p.T34I ENST00000173898 NM_001039705.2 34 aCt/aTt 0 -TRPC4 UCSF GRCh37 13 38211153 38211153 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 251 41 380 0 ENST00000379681.3:c.2836G>A p.Val946Ile p.V946I ENST00000379681 NM_001135955.1 946 Gtt/Att 0 -TRPM1 UCSF GRCh37 15 31330285 31330285 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 20 123 0 ENST00000542188.1:c.2452G>A p.Glu818Lys p.E818K ENST00000542188 NM_001252020.1 818 Gaa/Aaa 0 -TRPM8 UCSF GRCh37 2 234888831 234888831 + splice_acceptor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 4 53 0 ENST00000324695.4:c.2356-1G>A p.X786_splice ENST00000324695 NM_024080.4 0 -TRPM8 UCSF GRCh37 2 234851359 234851359 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 10 83 0 ENST00000324695.4:c.666C>T p.Asn222= p.N222= ENST00000324695 NM_024080.4 222 aaC/aaT 0 -TRPM8 UCSF GRCh37 2 234863816 234863816 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 236 27 345 0 ENST00000324695.4:c.1284G>A p.Gly428= p.G428= ENST00000324695 NM_024080.4 428 ggG/ggA 0 -TRPV2 UCSF GRCh37 17 16321100 16321100 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 8 96 0 ENST00000338560.7:c.118G>A p.Glu40Lys p.E40K ENST00000338560 NM_016113.4 40 Gag/Aag 0 -TRPV4 UCSF GRCh37 12 110222122 110222122 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 6 79 0 ENST00000418703.2:c.2457G>A p.Arg819= p.R819= ENST00000418703 NM_001177431.1 819 agG/agA 0 -TRUB2 UCSF GRCh37 9 131077889 131077889 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 21 198 0 ENST00000372890.4:c.335G>A p.Gly112Glu p.G112E ENST00000372890 NM_015679.1 112 gGa/gAa 0 -TSGA14 UCSF GRCh37 7 130041759 130041759 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 226 28 207 0 ENST00000223208.5:c.605G>A p.Arg202Lys p.R202K ENST00000223208 NM_018718.2 202 aGa/aAa 0 -TSNAXIP1 UCSF GRCh37 16 67855009 67855009 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 18 129 0 ENST00000388833.3:c.106C>T p.Gln36Ter p.Q36* ENST00000388833 NM_018430.2 36 Cag/Tag 0 -TSPYL2 UCSF GRCh37 X 53112164 53112164 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 17 67 0 ENST00000375442.4:c.484C>T p.Pro162Ser p.P162S ENST00000375442 NM_022117.3 162 Ccg/Tcg 0 -TSTD2 UCSF GRCh37 9 100367915 100367915 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 6 71 0 ENST00000341170.4:c.963C>T p.Phe321= p.F321= ENST00000341170 NM_139246.4 321 ttC/ttT 0 -TTBK1 UCSF GRCh37 6 43221096 43221096 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 11 80 1 ENST00000259750.4:c.324G>A p.Gln108= p.Q108= ENST00000259750 NM_032538.1 108 caG/caA 0 -TTC16 UCSF GRCh37 9 130491936 130491936 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 14 135 0 ENST00000373289.3:c.1841C>T p.Ser614Phe p.S614F ENST00000373289 NM_144965.1 614 tCc/tTc 0 -TTC17 UCSF GRCh37 11 43422997 43422997 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL A A - NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 0 ENST00000039989.4:c.1223del p.Asn408IlefsTer47 p.N408Ifs*47 ENST00000039989 NM_018259.5 407 ggA/gg 0 -TTC24 UCSF GRCh37 1 156551840 156551840 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 13 83 0 ENST00000368236.3:c.684G>A p.Arg228= p.R228= ENST00000368236 NM_001105669.2 228 agG/agA 0 -TTC28 UCSF GRCh37 22 28693690 28693690 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 9 87 0 ENST00000397906.2:c.680C>T p.Thr227Ile p.T227I ENST00000397906 NM_001145418.1 227 aCc/aTc 0 -TTC3 UCSF GRCh37 21 38466339 38466339 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 37 14 116 0 ENST00000399017.2:c.636C>T p.Asp212= p.D212= ENST00000399017 NM_003316.3 212 gaC/gaT 0 -TTC5 UCSF GRCh37 14 20764555 20764555 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 6 61 0 ENST00000258821.3:c.690G>A p.Arg230= p.R230= ENST00000258821 NM_138376.2 230 agG/agA 0 -TTC8 UCSF GRCh37 14 89336424 89336424 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 197 27 296 0 ENST00000380656.2:c.931G>A p.Ala311Thr p.A311T ENST00000380656 NM_144596.2 311 Gca/Aca 0 -TTF2 UCSF GRCh37 1 117624491 117624491 + missense_variant Missense_Mutation SNP C C G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 39 162 0 ENST00000369466.4:c.1825C>G p.Leu609Val p.L609V ENST00000369466 NM_003594.3 609 Ctc/Gtc 0 -TTLL10 UCSF GRCh37 1 1116199 1116199 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 25 3 36 0 ENST00000379290.1:c.714C>T p.Ala238= p.A238= ENST00000379290 238 gcC/gcT 0 -TTN UCSF GRCh37 2 179422822 179422822 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 10 145 0 ENST00000589042.1:c.87259G>A p.Ala29087Thr p.A29087T ENST00000589042 NM_001267550.1 29087 Gca/Aca 0 -TTN UCSF GRCh37 2 179485448 179485448 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 256 43 428 0 ENST00000589042.1:c.45889G>A p.Val15297Ile p.V15297I ENST00000589042 NM_001267550.1 15297 Gta/Ata 0 -TTN UCSF GRCh37 2 179633595 179633595 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 220 30 317 0 ENST00000589042.1:c.8968G>A p.Val2990Met p.V2990M ENST00000589042 NM_001267550.1 2990 Gtg/Atg 0 -TTN UCSF GRCh37 2 179417827 179417827 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 98 12 146 0 ENST00000589042.1:c.89800C>T p.Pro29934Ser p.P29934S ENST00000589042 NM_001267550.1 29934 Cca/Tca 0 -TTN UCSF GRCh37 2 179587979 179587979 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 180 23 276 0 ENST00000589042.1:c.21755C>T p.Thr7252Ile p.T7252I ENST00000589042 NM_001267550.1 7252 aCc/aTc 0 -TTN UCSF GRCh37 2 179401238 179401238 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 13 132 0 ENST00000589042.1:c.100236C>T p.Ala33412= p.A33412= ENST00000589042 NM_001267550.1 33412 gcC/gcT 0 -TUBA3C UCSF GRCh37 13 19748285 19748285 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 4 29 0 ENST00000400113.3:c.1071C>T p.Tyr357= p.Y357= ENST00000400113 NM_006001.2 357 taC/taT 0 -TUBGCP5 UCSF GRCh37 15 22855156 22855156 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 6 26 0 ENST00000283645.4:c.1617G>A p.Gln539= p.Q539= ENST00000283645 NM_052903.4 539 caG/caA 0 -TUFM UCSF GRCh37 16 28855093 28855093 + stop_gained Nonsense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 11 4 13 0 ENST00000313511.3:c.1158G>A p.Trp386Ter p.W386* ENST00000313511 NM_003321.4 386 tgG/tgA 0 -TXLNB UCSF GRCh37 6 139591620 139591620 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 13 118 0 ENST00000358430.3:c.660G>A p.Glu220= p.E220= ENST00000358430 NM_153235.3 220 gaG/gaA 0 -TXNDC11 UCSF GRCh37 16 11773604 11773604 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 20 201 1 ENST00000283033.5:c.2324C>T p.Ser775Phe p.S775F ENST00000283033 NM_015914.5 775 tCc/tTc 0 -TXNL1 UCSF GRCh37 18 54281696 54281696 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 143 22 235 0 ENST00000217515.6:c.694C>T p.Pro232Ser p.P232S ENST00000217515 NM_004786.2 232 Cca/Tca 0 -TYW3 UCSF GRCh37 1 75229704 75229704 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 250 49 388 0 ENST00000370867.3:c.687C>T p.Ala229= p.A229= ENST00000370867 NM_138467.2 229 gcC/gcT 0 -UACA UCSF GRCh37 15 70975129 70975129 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 5 104 0 ENST00000322954.6:c.790G>A p.Glu264Lys p.E264K ENST00000322954 NM_018003.2 264 Gaa/Aaa 0 -UBA1 UCSF GRCh37 X 47074325 47074325 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 32 112 0 ENST00000335972.6:c.3174C>T p.Arg1058= p.R1058= ENST00000335972 NM_003334.3 1058 cgC/cgT 0 -UBA7 UCSF GRCh37 3 49846990 49846990 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 275 44 379 0 ENST00000333486.3:c.2073C>T p.His691= p.H691= ENST00000333486 NM_003335.2 691 caC/caT 0 -UBE2E2 UCSF GRCh37 3 23631264 23631264 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 24 215 0 ENST00000396703.1:c.548C>T p.Thr183Ile p.T183I ENST00000396703 NM_152653.3 183 aCc/aTc 0 -UBE2E2 UCSF GRCh37 3 23250183 23250183 + splice_region_variant,5_prime_UTR_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 36 113 0 ENST00000396703.1:c.-8G>A p.X3_splice ENST00000396703 NM_152653.3 0 -UBE2G2 UCSF GRCh37 21 46197237 46197237 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 48 182 0 ENST00000345496.2:c.221C>T p.Thr74Ile p.T74I ENST00000345496 NM_003343.5 74 aCc/aTc 0 -UBE2Q1 UCSF GRCh37 1 154525615 154525615 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 89 15 151 0 ENST00000292211.4:c.622G>A p.Glu208Lys p.E208K ENST00000292211 NM_017582.6 208 Gag/Aag 0 -UBE2U UCSF GRCh37 1 64680588 64680588 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 9 70 0 ENST00000371076.3:c.430C>T p.Leu144= p.L144= ENST00000371076 NM_152489.1 144 Cta/Tta 0 -UBE4B UCSF GRCh37 1 10211519 10211519 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 201 34 297 0 ENST00000343090.6:c.2826C>T p.Asn942= p.N942= ENST00000343090 NM_001105562.2 942 aaC/aaT 0 -UBL4A UCSF GRCh37 X 153713937 153713937 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 41 12 75 0 ENST00000369660.4:c.415G>A p.Ala139Thr p.A139T ENST00000369660 NM_014235.3 139 Gcc/Acc 0 -UBN1 UCSF GRCh37 16 4926992 4926992 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 25 151 0 ENST00000396658.4:c.3145G>A p.Val1049Ile p.V1049I ENST00000396658 NM_016936.3 1049 Gtc/Atc 0 -UBQLN2 UCSF GRCh37 X 56590846 56590846 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 19 58 0 ENST00000338222.5:c.540G>A p.Glu180= p.E180= ENST00000338222 NM_013444.3 180 gaG/gaA 0 -UBR1 UCSF GRCh37 15 43360098 43360098 + missense_variant,splice_region_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 19 11 35 0 ENST00000290650.4:c.796G>A p.Glu266Lys p.E266K ENST00000290650 NM_174916.2 266 Gag/Aag 0 -UBR1 UCSF GRCh37 15 43317174 43317174 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 110 14 156 0 ENST00000290650.4:c.2592G>A p.Pro864= p.P864= ENST00000290650 NM_174916.2 864 ccG/ccA 0 -UBR1 UCSF GRCh37 15 43346981 43346981 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 238 33 309 0 ENST00000290650.4:c.1398G>A p.Gln466= p.Q466= ENST00000290650 NM_174916.2 466 caG/caA 0 -UBR3 UCSF GRCh37 2 170917685 170917685 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 195 25 364 0 ENST00000418381.1:c.4882G>A p.Glu1628Lys p.E1628K ENST00000418381 NM_172070.3 1628 Gaa/Aaa 0 -UBR4 UCSF GRCh37 1 19525077 19525077 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 10 118 0 ENST00000375254.3:c.606C>T p.Asn202= p.N202= ENST00000375254 NM_020765.2 202 aaC/aaT 0 -UBR5 UCSF GRCh37 8 103317361 103317361 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 21 171 0 ENST00000520539.1:c.2779G>A p.Val927Ile p.V927I ENST00000520539 NM_015902.5 927 Gta/Ata 0 -UBR5 UCSF GRCh37 8 103266681 103266681 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 85 17 138 0 ENST00000520539.1:c.8249C>T p.Pro2750Leu p.P2750L ENST00000520539 NM_015902.5 2750 cCc/cTc 0 -UCK2 UCSF GRCh37 1 165859506 165859506 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 7 72 0 ENST00000367879.4:c.165G>A p.Gln55= p.Q55= ENST00000367879 NM_012474.4 55 caG/caA 0 -UCN3 UCSF GRCh37 10 5416100 5416100 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 407 73 227 0 ENST00000380433.3:c.417G>A p.Lys139= p.K139= ENST00000380433 NM_053049.2 139 aaG/aaA 0 -UFSP2 UCSF GRCh37 4 186329183 186329183 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 12 143 0 ENST00000264689.6:c.1028C>T p.Thr343Ile p.T343I ENST00000264689 NM_018359.3 343 aCa/aTa 0 -UGDH UCSF GRCh37 4 39512330 39512330 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 298 35 408 0 ENST00000316423.6:c.416G>A p.Ser139Asn p.S139N ENST00000316423 NM_001184701.1 139 aGt/aAt 0 -UGT2B10 UCSF GRCh37 4 69885857 69885857 + non_coding_transcript_exon_variant RNA SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 124 26 205 0 ENST00000505092.1:n.276G>A *92* ENST00000505092 0 -UGT2B11 UCSF GRCh37 4 70080370 70080370 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 7 64 0 ENST00000446444.1:c.71G>A p.Gly24Glu p.G24E ENST00000446444 NM_001073.1 24 gGa/gAa 0 -BLTP3A UCSF GRCh37 6 34827090 34827090 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 22 175 0 ENST00000192788.5:c.2957C>T p.Ser986Phe p.S986F ENST00000192788 NM_017754.3 986 tCc/tTc 0 -ULK1 UCSF GRCh37 12 132379581 132379581 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 7 45 0 ENST00000321867.4:c.35G>A p.Gly12Asp p.G12D ENST00000321867 NM_003565.2 12 gGc/gAc 0 -ULK2 UCSF GRCh37 17 19741882 19741882 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 96 17 170 0 ENST00000395544.4:c.719C>T p.Thr240Ile p.T240I ENST00000395544 NM_014683.3 240 aCa/aTa 0 -ULK3 UCSF GRCh37 15 75131027 75131027 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 151 24 189 0 ENST00000440863.2:c.1059G>A p.Gln353= p.Q353= ENST00000440863 NM_001099436.1 353 caG/caA 0 -UMOD UCSF GRCh37 16 20360023 20360023 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 29 8 45 0 ENST00000570689.1:c.600C>T p.Arg200= p.R200= ENST00000570689 200 cgC/cgT 0 -UMODL1 UCSF GRCh37 21 43533867 43533867 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 11 103 0 ENST00000408989.2:c.2673C>T p.Val891= p.V891= ENST00000408989 NM_173568.3 891 gtC/gtT 0 -UNC13B UCSF GRCh37 9 35396476 35396476 + missense_variant Missense_Mutation SNP A A G snp132_rs17849220 P24_Rec2 Untested WXS Illumina HiSeq 179 37 413 0 ENST00000378495.3:c.3065A>G p.His1022Arg p.H1022R ENST00000378495 NM_006377.3 1022 cAt/cGt 0 -UNC13B UCSF GRCh37 9 35313986 35313986 + missense_variant,splice_region_variant Missense_Mutation SNP G G T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 7 94 0 ENST00000378495.3:c.1167G>T p.Glu389Asp p.E389D ENST00000378495 NM_006377.3 389 gaG/gaT 0 -UNC13D UCSF GRCh37 17 73839293 73839293 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 11 56 0 ENST00000207549.4:c.208C>T p.Pro70Ser p.P70S ENST00000207549 NM_199242.2 70 Cct/Tct 0 -UNC5C UCSF GRCh37 4 96123949 96123949 + missense_variant Missense_Mutation SNP A A T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 19 57 0 ENST00000453304.1:c.2069T>A p.Leu690Gln p.L690Q ENST00000453304 NM_003728.3 690 cTg/cAg 0 -UNC5C UCSF GRCh37 4 96166234 96166234 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 134 18 206 0 ENST00000453304.1:c.837G>A p.Gly279= p.G279= ENST00000453304 NM_003728.3 279 ggG/ggA 0 -UNC5D UCSF GRCh37 8 35648074 35648074 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 174 20 183 0 ENST00000404895.2:c.2855G>A p.Gly952Glu p.G952E ENST00000404895 NM_080872.2 952 gGa/gAa 0 -UNC79 UCSF GRCh37 14 94107551 94107551 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 125 21 210 0 ENST00000256339.4:c.5447C>T p.Pro1816Leu p.P1816L ENST00000256339 NM_020818.3 1816 cCt/cTt 0 -UNC79 UCSF GRCh37 14 94038423 94038423 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 5 68 0 ENST00000256339.4:c.1408G>A p.Val470Ile p.V470I ENST00000256339 NM_020818.3 470 Gta/Ata 0 -UNC80 UCSF GRCh37 2 210841652 210841652 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 6 54 0 ENST00000439458.1:c.8590G>A p.Ala2864Thr p.A2864T ENST00000439458 NM_032504.1 2864 Gca/Aca 0 -UNC80 UCSF GRCh37 2 210642283 210642283 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 14 109 0 ENST00000439458.1:c.600G>A p.Lys200= p.K200= ENST00000439458 NM_032504.1 200 aaG/aaA 0 -UPF3B UCSF GRCh37 X 118968844 118968844 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 47 238 0 ENST00000276201.2:c.1449G>A p.Glu483= p.E483= ENST00000276201 NM_080632.2 483 gaG/gaA 0 -UPK3B UCSF GRCh37 7 76142480 76142480 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 129 20 152 0 ENST00000419923.2:c.627-784G>A *209* ENST00000419923 0 -URB1 UCSF GRCh37 21 33691589 33691589 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 15 166 0 ENST00000382751.3:c.5730G>A p.Arg1910= p.R1910= ENST00000382751 NM_014825.2 1910 cgG/cgA 0 -UROD UCSF GRCh37 1 45478816 45478816 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 13 101 0 ENST00000246337.4:c.142G>A p.Glu48Lys p.E48K ENST00000246337 NM_000374.4 48 Gaa/Aaa 0 -USF1 UCSF GRCh37 1 161010078 161010078 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 19 164 0 ENST00000368021.3:c.757G>A p.Glu253Lys p.E253K ENST00000368021 NM_007122.4 253 Gag/Aag 0 -USH2A UCSF GRCh37 1 216243514 216243514 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 65 260 0 ENST00000307340.3:c.5978G>A p.Ser1993Asn p.S1993N ENST00000307340 NM_206933.2 1993 aGt/aAt 0 -USH2A UCSF GRCh37 1 216373016 216373016 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 56 28 97 0 ENST00000307340.3:c.3764G>A p.Ser1255Asn p.S1255N ENST00000307340 NM_206933.2 1255 aGt/aAt 0 -USP24 UCSF GRCh37 1 55603253 55603253 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 18 131 0 ENST00000294383.6:c.3136G>A p.Asp1046Asn p.D1046N ENST00000294383 NM_015306.2 1046 Gat/Aat 0 -USP26 UCSF GRCh37 X 132159747 132159747 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 29 202 0 ENST00000511190.1:c.2502G>A p.Gly834= p.G834= ENST00000511190 NM_031907.1 834 ggG/ggA 0 -USP35 UCSF GRCh37 11 77921284 77921284 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 26 209 0 ENST00000529308.1:c.2383G>A p.Val795Met p.V795M ENST00000529308 NM_020798.2 795 Gtg/Atg 0 -USP36 UCSF GRCh37 17 76832208 76832208 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 7 49 0 ENST00000542802.3:c.238C>T p.Pro80Ser p.P80S ENST00000542802 80 Ccg/Tcg 0 -USP37 UCSF GRCh37 2 219324517 219324517 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 104 49 235 0 ENST00000258399.3:c.2639C>T p.Ala880Val p.A880V ENST00000258399 NM_020935.2 880 gCt/gTt 0 -USP38 UCSF GRCh37 4 144136024 144136024 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 44 72 250 0 ENST00000307017.4:c.2895G>A p.Trp965Ter p.W965* ENST00000307017 NM_032557.5 965 tgG/tgA 0 -USP42 UCSF GRCh37 7 6187440 6187440 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 162 20 169 0 ENST00000306177.5:c.1303C>T p.Pro435Ser p.P435S ENST00000306177 NM_032172.2 435 Ccc/Tcc 0 -USP43 UCSF GRCh37 17 9603504 9603504 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 13 94 0 ENST00000285199.7:c.1473G>A p.Arg491= p.R491= ENST00000285199 NM_001267576.1 491 agG/agA 0 -USP43 UCSF GRCh37 17 9631785 9631785 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 16 162 0 ENST00000285199.7:c.2850G>A p.Gln950= p.Q950= ENST00000285199 NM_001267576.1 950 caG/caA 0 -USP49 UCSF GRCh37 6 41774193 41774193 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 6 45 0 ENST00000373006.1:c.529G>A p.Ala177Thr p.A177T ENST00000373006 NM_018561.3 177 Gcc/Acc 0 -USP54 UCSF GRCh37 10 75289484 75289484 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 127 31 290 0 ENST00000339859.4:c.2014C>T p.Pro672Ser p.P672S ENST00000339859 672 Cct/Tct 0 -USP54 UCSF GRCh37 10 75276770 75276770 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 6 113 0 ENST00000339859.4:c.3414G>A p.Arg1138= p.R1138= ENST00000339859 1138 agG/agA 0 -USP54 UCSF GRCh37 10 75279635 75279635 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 24 3 43 0 ENST00000339859.4:c.2598G>A p.Gln866= p.Q866= ENST00000339859 866 caG/caA 0 -UTP20 UCSF GRCh37 12 101755786 101755786 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 63 41 114 0 ENST00000261637.4:c.5738C>T p.Thr1913Ile p.T1913I ENST00000261637 NM_014503.2 1913 aCc/aTc 0 -UTP20 UCSF GRCh37 12 101728261 101728261 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 9 46 0 ENST00000261637.4:c.3620G>A p.Ser1207Asn p.S1207N ENST00000261637 NM_014503.2 1207 aGt/aAt 0 -UTP20 UCSF GRCh37 12 101763522 101763522 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 9 99 0 ENST00000261637.4:c.6408C>T p.Cys2136= p.C2136= ENST00000261637 NM_014503.2 2136 tgC/tgT 0 -UTY UCSF GRCh37 Y 15409660 15409660 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 11 75 0 ENST00000331397.4:c.3646C>T p.Pro1216Ser p.P1216S ENST00000331397 NM_001258267.1 1216 Ccc/Tcc 0 -UVRAG UCSF GRCh37 11 75851986 75851986 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 50 186 0 ENST00000356136.3:c.1629G>A p.Lys543= p.K543= ENST00000356136 NM_003369.3 543 aaG/aaA 0 -VAC14 UCSF GRCh37 16 70796792 70796792 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 53 13 140 0 ENST00000261776.5:c.1297C>T p.Pro433Ser p.P433S ENST00000261776 NM_018052.3 433 Cct/Tct 0 -VARS UCSF GRCh37 6 31748671 31748671 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 16 176 0 ENST00000375663.3:c.2694G>A p.Glu898= p.E898= ENST00000375663 NM_006295.2 898 gaG/gaA 0 -VCAN UCSF GRCh37 5 82835603 82835603 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 243 41 378 0 ENST00000265077.3:c.6781G>A p.Glu2261Lys p.E2261K ENST00000265077 NM_004385.4 2261 Gaa/Aaa 0 -VDAC1 UCSF GRCh37 5 133309511 133309511 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 142 22 246 0 ENST00000265333.3:c.731G>A p.Gly244Asp p.G244D ENST00000265333 NM_003374.2 244 gGt/gAt 0 -VENTX UCSF GRCh37 10 135053573 135053573 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 34 292 0 ENST00000325980.9:c.540G>A p.Leu180= p.L180= ENST00000325980 NM_014468.3 180 ctG/ctA 0 -VEPH1 UCSF GRCh37 3 157034872 157034872 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 121 17 174 0 ENST00000362010.2:c.1854G>A p.Gln618= p.Q618= ENST00000362010 NM_001167912.1 618 caG/caA 0 -VGLL1 UCSF GRCh37 X 135630884 135630884 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 30 140 207 0 ENST00000370634.3:c.351G>A p.Pro117= p.P117= ENST00000370634 NM_016267.3 117 ccG/ccA 0 -VIL1 UCSF GRCh37 2 219301264 219301264 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 133 25 179 0 ENST00000248444.5:c.1886G>A p.Gly629Glu p.G629E ENST00000248444 NM_007127.2 629 gGg/gAg 0 -VMO1 UCSF GRCh37 17 4689332 4689332 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 219 38 292 0 ENST00000328739.5:c.211G>A p.Gly71Ser p.G71S ENST00000328739 NM_182566.2 71 Ggc/Agc 0 -VPRBP UCSF GRCh37 3 51475506 51475506 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 221 45 365 0 ENST00000504652.1:c.921G>A p.Met307Ile p.M307I ENST00000504652 307 atG/atA 0 -VPRBP UCSF GRCh37 3 51440740 51440740 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 373 79 565 0 ENST00000423656.1:c.3015G>A p.Glu1005= p.E1005= ENST00000423656 1005 gaG/gaA 0 -VPS13A UCSF GRCh37 9 79959108 79959108 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 12 200 0 ENST00000360280.3:c.7066C>T p.Leu2356Phe p.L2356F ENST00000360280 NM_033305.2 2356 Ctt/Ttt 0 -VPS13B UCSF GRCh37 8 100887766 100887766 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 126 21 214 0 ENST00000358544.2:c.11941G>A p.Val3981Met p.V3981M ENST00000358544 NM_017890.4 3981 Gtg/Atg 0 -VPS13C UCSF GRCh37 15 62237972 62237972 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 242 41 347 0 ENST00000261517.5:c.5090G>A p.Ser1697Asn p.S1697N ENST00000261517 NM_020821.2 1697 aGt/aAt 0 -VPS13D UCSF GRCh37 1 12327930 12327930 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 43 8 65 0 ENST00000358136.3:c.1754C>T p.Ser585Phe p.S585F ENST00000358136 NM_015378.2 585 tCt/tTt 0 -VPS13D UCSF GRCh37 1 12364765 12364765 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 42 8 74 0 ENST00000358136.3:c.6419G>A p.Gly2140Asp p.G2140D ENST00000358136 NM_015378.2 2140 gGc/gAc 0 -VPS39 UCSF GRCh37 15 42453941 42453941 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 114 16 211 0 ENST00000318006.5:c.2491G>A p.Val831Met p.V831M ENST00000318006 NM_015289.2 831 Gtg/Atg 0 -VPS45 UCSF GRCh37 1 150064042 150064042 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 71 14 106 0 ENST00000369130.3:c.1116G>A p.Arg372= p.R372= ENST00000369130 NM_001279354.1 372 agG/agA 0 -VPS4B UCSF GRCh37 18 61064452 61064452 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 20 303 0 ENST00000238497.5:c.907C>T p.Pro303Ser p.P303S ENST00000238497 NM_004869.3 303 Ccc/Tcc 0 -VSIG8 UCSF GRCh37 1 159828607 159828607 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 66 11 72 0 ENST00000368100.1:c.145G>A p.Asp49Asn p.D49N ENST00000368100 NM_001013661.1 49 Gac/Aac 0 -VWA3A UCSF GRCh37 16 22130344 22130344 + missense_variant Missense_Mutation SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 6 76 0 ENST00000389398.5:c.1112A>G p.Glu371Gly p.E371G ENST00000389398 NM_173615.3 371 gAg/gGg 0 -VWF UCSF GRCh37 12 6101129 6101129 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 10 61 0 ENST00000261405.5:c.6654G>A p.Arg2218= p.R2218= ENST00000261405 NM_000552.3 2218 cgG/cgA 0 -WASL UCSF GRCh37 7 123336632 123336632 + splice_donor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 95 12 140 0 ENST00000223023.4:c.629+1G>A p.X210_splice ENST00000223023 NM_003941.3 0 -WBP4 UCSF GRCh37 13 41639412 41639412 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 15 132 0 ENST00000379487.3:c.251G>A p.Gly84Asp p.G84D ENST00000379487 NM_007187.3 84 gGc/gAc 0 -WBP5 UCSF GRCh37 X 102612721 102612721 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 31 82 0 ENST00000372661.3:c.109G>A p.Glu37Lys p.E37K ENST00000372661 NM_001006612.1 37 Gag/Aag 0 -WBSCR17 UCSF GRCh37 7 70853291 70853291 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 306 53 455 0 ENST00000333538.5:c.493C>T p.Leu165= p.L165= ENST00000333538 NM_022479.2 165 Ctg/Ttg 0 -WBSCR17 UCSF GRCh37 7 70885975 70885975 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 519 65 700 0 ENST00000333538.5:c.846C>T p.Asn282= p.N282= ENST00000333538 NM_022479.2 282 aaC/aaT 0 -WDFY3 UCSF GRCh37 4 85717804 85717804 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 101 15 186 0 ENST00000295888.4:c.3037G>A p.Glu1013Lys p.E1013K ENST00000295888 NM_014991.4 1013 Gaa/Aaa 0 -WDR11 UCSF GRCh37 10 122612079 122612079 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 24 191 0 ENST00000263461.6:c.130G>A p.Val44Ile p.V44I ENST00000263461 NM_018117.11 44 Gta/Ata 0 -WDR17 UCSF GRCh37 4 177061100 177061100 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 36 286 0 ENST00000280190.4:c.1489G>A p.Ala497Thr p.A497T ENST00000280190 497 Gca/Aca 0 -WDR34 UCSF GRCh37 9 131396082 131396082 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 118 26 172 0 ENST00000372715.2:c.1552G>A p.Glu518Lys p.E518K ENST00000372715 NM_052844.3 518 Gaa/Aaa 0 -WDR45 UCSF GRCh37 X 48933538 48933538 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 27 9 40 0 ENST00000356463.3:c.506G>A p.Ser169Asn p.S169N ENST00000356463 NM_007075.3 169 aGt/aAt 0 -WDR5B UCSF GRCh37 3 122133933 122133933 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 240 38 344 0 ENST00000330689.4:c.443C>T p.Thr148Ile p.T148I ENST00000330689 NM_019069.3 148 aCt/aTt 0 -WDR6 UCSF GRCh37 3 49051328 49051328 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 113 293 0 ENST00000395474.3:c.2451C>T p.Thr817= p.T817= ENST00000395474 NM_018031.3 817 acC/acT 0 -WDR66 UCSF GRCh37 12 122389392 122389392 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 49 11 83 0 ENST00000288912.4:c.1276G>A p.Glu426Lys p.E426K ENST00000288912 NM_144668.5 426 Gag/Aag 0 -WDR83 UCSF GRCh37 19 12780631 12780631 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 106 12 94 0 ENST00000418543.3:c.27G>A p.Arg9= p.R9= ENST00000418543 NM_001099737.2 9 cgG/cgA 0 -WDR87 UCSF GRCh37 19 38376127 38376127 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 60 221 0 ENST00000303868.5:c.8067G>A p.Met2689Ile p.M2689I ENST00000303868 NM_031951.3 2689 atG/atA 0 -WDR90 UCSF GRCh37 16 711344 711344 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 169 27 207 0 ENST00000293879.4:c.3516C>T p.Val1172= p.V1172= ENST00000293879 1172 gtC/gtT 0 -WDR92 UCSF GRCh37 2 68384413 68384413 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 33 110 0 ENST00000295121.6:c.163G>A p.Asp55Asn p.D55N ENST00000295121 NM_138458.3 55 Gac/Aac 0 -WISP1 UCSF GRCh37 8 134239654 134239654 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 12 50 0 ENST00000250160.6:c.805G>A p.Ala269Thr p.A269T ENST00000250160 NM_003882.3 269 Gca/Aca 0 -WIZ UCSF GRCh37 19 15536149 15536149 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 7 44 0 ENST00000263381.7:c.1512G>A p.Glu504= p.E504= ENST00000263381 NM_021241.2 504 gaG/gaA 0 -WNK2 UCSF GRCh37 9 96024314 96024314 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 7 85 0 ENST00000297954.4:c.3285C>T p.Asn1095= p.N1095= ENST00000297954 NM_001282394.1 1095 aaC/aaT 0 -WNT11 UCSF GRCh37 11 75902790 75902790 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 4 36 0 ENST00000322563.3:c.708C>T p.Asp236= p.D236= ENST00000322563 NM_004626.2 236 gaC/gaT 0 -WNT8A UCSF GRCh37 5 137426465 137426465 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 83 16 128 1 ENST00000398754.1:c.759G>A p.Glu253= p.E253= ENST00000398754 NM_058244.2 253 gaG/gaA 0 -WRN UCSF GRCh37 8 30999288 30999288 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 61 7 73 0 ENST00000298139.5:c.3230C>T p.Pro1077Leu p.P1077L ENST00000298139 NM_000553.4 1077 cCt/cTt 0 -WRN UCSF GRCh37 8 31015035 31015035 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 48 7 34 0 ENST00000298139.5:c.3971C>T p.Pro1324Leu p.P1324L ENST00000298139 NM_000553.4 1324 cCc/cTc 0 -WRN UCSF GRCh37 8 30977791 30977791 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 159 21 163 0 ENST00000298139.5:c.2481C>T p.Gly827= p.G827= ENST00000298139 NM_000553.4 827 ggC/ggT 0 -XAB2 UCSF GRCh37 19 7684699 7684699 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 213 84 246 0 ENST00000358368.4:c.2440G>A p.Val814Ile p.V814I ENST00000358368 NM_020196.2 814 Gtc/Atc 0 -XKR7 UCSF GRCh37 20 30584969 30584969 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 218 35 277 0 ENST00000562532.2:c.1449G>A p.Glu483= p.E483= ENST00000562532 NM_001011718.1 483 gaG/gaA 0 -XPO4 UCSF GRCh37 13 21417107 21417107 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 8 90 0 ENST00000255305.6:c.654G>A p.Gln218= p.Q218= ENST00000255305 218 caG/caA 0 -XPO7 UCSF GRCh37 8 21856752 21856752 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 10 54 0 ENST00000252512.9:c.2579C>T p.Ala860Val p.A860V ENST00000252512 NM_015024.4 860 gCc/gTc 0 -XRCC3 UCSF GRCh37 14 104165783 104165783 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 75 26 122 0 ENST00000553264.1:c.692G>A p.Arg231Lys p.R231K ENST00000553264 231 aGg/aAg 0 -XRN1 UCSF GRCh37 3 142131443 142131443 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 15 97 0 ENST00000264951.4:c.1656C>T p.Asp552= p.D552= ENST00000264951 NM_019001.3 552 gaC/gaT 0 -XYLT2 UCSF GRCh37 17 48432314 48432314 + missense_variant Missense_Mutation SNP A A T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 8 59 0 ENST00000017003.2:c.904A>T p.Ser302Cys p.S302C ENST00000017003 NM_022167.2 302 Agc/Tgc 0 -XYLT2 UCSF GRCh37 17 48434120 48434120 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 74 17 84 0 ENST00000017003.2:c.1731C>T p.Gly577= p.G577= ENST00000017003 NM_022167.2 577 ggC/ggT 0 -YARS2 UCSF GRCh37 12 32908188 32908188 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 64 12 64 0 ENST00000324868.8:c.621G>A p.Arg207= p.R207= ENST00000324868 NM_001040436.2 207 cgG/cgA 0 -YIF1B UCSF GRCh37 19 38799920 38799920 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 12 117 0 ENST00000339413.6:c.346G>A p.Asp116Asn p.D116N ENST00000339413 NM_001039673.2 116 Gac/Aac 0 -YME1L1 UCSF GRCh37 10 27420824 27420824 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 306 34 259 0 ENST00000326799.3:c.993C>T p.Val331= p.V331= ENST00000326799 NM_139312.2 331 gtC/gtT 0 -ZAN UCSF GRCh37 7 100391805 100391805 + intron_variant Intron SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 10 127 0 ENST00000546292.1:c.7850-1013C>T *2617* ENST00000546292 NM_173059.1 0 -ZBED4 UCSF GRCh37 22 50279926 50279926 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 9 157 0 ENST00000216268.5:c.2616G>A p.Glu872= p.E872= ENST00000216268 NM_014838.2 872 gaG/gaA 0 -ZBP1 UCSF GRCh37 20 56179653 56179653 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.012,1000g2011may_all_0.0614,snp132_rs6099680 P24_Rec2 Untested WXS Illumina HiSeq 275 40 402 0 ENST00000371173.3:c.1266G>A p.Gly422= p.G422= ENST00000371173 NM_001160417.1 422 ggG/ggA 0 -ZBTB10 UCSF GRCh37 8 81399803 81399803 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 266 34 356 0 ENST00000430430.1:c.758C>T p.Ser253Phe p.S253F ENST00000430430 253 tCc/tTc 0 -ZBTB2 UCSF GRCh37 6 151686972 151686972 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 372 68 540 0 ENST00000325144.4:c.1229G>A p.Cys410Tyr p.C410Y ENST00000325144 NM_020861.1 410 tGc/tAc 0 -ZBTB4 UCSF GRCh37 17 7365866 7365866 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 12 102 0 ENST00000311403.4:c.2435G>A p.Gly812Glu p.G812E ENST00000311403 NM_020899.3 812 gGg/gAg 0 -ZBTB4 UCSF GRCh37 17 7369919 7369919 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 34 15 53 0 ENST00000311403.4:c.202C>T p.Pro68Ser p.P68S ENST00000311403 NM_020899.3 68 Cca/Tca 0 -ZBTB45 UCSF GRCh37 19 59028727 59028727 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 189 30 215 0 ENST00000594051.1:c.314C>T p.Ala105Val p.A105V ENST00000594051 105 gCc/gTc 0 -ZBTB47 UCSF GRCh37 3 42701201 42701201 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 13 115 0 ENST00000232974.6:c.1354G>A p.Glu452Lys p.E452K ENST00000232974 452 Gag/Aag 0 -ZBTB47 UCSF GRCh37 3 42701253 42701253 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 10 83 0 ENST00000232974.6:c.1406G>A p.Gly469Asp p.G469D ENST00000232974 469 gGc/gAc 0 -ZBTB7A UCSF GRCh37 19 4054382 4054382 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 34 133 0 ENST00000322357.4:c.849G>A p.Leu283= p.L283= ENST00000322357 NM_015898.2 283 ctG/ctA 0 -ZC3H12B UCSF GRCh37 X 64718939 64718939 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 39 11 82 0 ENST00000338957.4:c.809G>A p.Arg270Lys p.R270K ENST00000338957 NM_001010888.3 270 aGa/aAa 0 -ZC3H12B UCSF GRCh37 X 64722305 64722305 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 119 50 223 1 ENST00000338957.4:c.1727C>T p.Ala576Val p.A576V ENST00000338957 NM_001010888.3 576 gCc/gTc 0 -ZC3H12C UCSF GRCh37 11 110007586 110007586 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 193 25 224 0 ENST00000278590.3:c.220G>A p.Gly74Arg p.G74R ENST00000278590 NM_033390.1 74 Ggg/Agg 0 -ZC3H12C UCSF GRCh37 11 110036273 110036273 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 218 30 261 0 ENST00000278590.3:c.2463G>A p.Arg821= p.R821= ENST00000278590 NM_033390.1 821 cgG/cgA 0 -ZC3H7B UCSF GRCh37 22 41745306 41745306 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 9 50 0 ENST00000352645.4:c.1948+1G>A p.X650_splice ENST00000352645 NM_017590.5 0 -ZC3HAV1 UCSF GRCh37 7 138761068 138761068 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 69 238 0 ENST00000242351.5:c.1661C>T p.Thr554Met p.T554M ENST00000242351 NM_020119.3 554 aCg/aTg 0 -ZC3HAV1L UCSF GRCh37 7 138720571 138720571 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 58 7 42 0 ENST00000275766.1:c.193G>A p.Ala65Thr p.A65T ENST00000275766 NM_080660.3 65 Gcc/Acc 0 -ZCCHC11 UCSF GRCh37 1 52991715 52991715 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 273 45 425 0 ENST00000257177.4:c.238C>T p.Leu80Phe p.L80F ENST00000257177 80 Ctt/Ttt 0 -ZCCHC2 UCSF GRCh37 18 60217659 60217659 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 13 136 0 ENST00000269499.5:c.1279G>A p.Glu427Lys p.E427K ENST00000269499 NM_017742.4 427 Gaa/Aaa 0 -ZCCHC3 UCSF GRCh37 20 279310 279310 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 44 122 0 ENST00000382352.3:c.1083G>A p.Gly361= p.G361= ENST00000382352 NM_033089.6 361 ggG/ggA 0 -ZDHHC13 UCSF GRCh37 11 19177349 19177349 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 216 34 320 0 ENST00000446113.2:c.880C>T p.Leu294= p.L294= ENST00000446113 NM_019028.2 294 Ctg/Ttg 0 -ZDHHC5 UCSF GRCh37 11 57467469 57467469 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 51 12 70 0 ENST00000287169.3:c.2114G>A p.Gly705Glu p.G705E ENST00000287169 NM_015457.2 705 gGg/gAg 0 -ZDHHC8 UCSF GRCh37 22 20132889 20132889 + intron_variant Intron SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 13 110 0 ENST00000405930.3:c.2126+1610G>A *709* ENST00000405930 NM_001185024.1 0 -ZFHX2 UCSF GRCh37 14 24001885 24001885 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 167 23 226 0 ENST00000419474.3:c.2450C>T p.Ser817Phe p.S817F ENST00000419474 NM_033400.2 817 tCc/tTc 0 -ZFHX3 UCSF GRCh37 16 72829408 72829408 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 84 29 247 0 ENST00000268489.5:c.7173C>T p.Tyr2391= p.Y2391= ENST00000268489 NM_006885.3 2391 taC/taT 0 -ZFHX4 UCSF GRCh37 8 77619971 77619971 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 120 15 173 0 ENST00000521891.2:c.2781G>A p.Glu927= p.E927= ENST00000521891 NM_024721.4 927 gaG/gaA 0 -ZFP106 UCSF GRCh37 15 42743419 42743419 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 146 29 182 0 ENST00000263805.4:c.982G>A p.Asp328Asn p.D328N ENST00000263805 NM_022473.1 328 Gac/Aac 0 -ZFP36 UCSF GRCh37 19 39898603 39898603 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 214 27 270 1 ENST00000597629.1:c.263G>A p.Arg88His p.R88H ENST00000597629 88 cGc/cAc 0 -ZFP41 UCSF GRCh37 8 144332454 144332454 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 17 371 0 ENST00000330701.4:c.441G>A p.Glu147= p.E147= ENST00000330701 NM_173832.4 147 gaG/gaA 0 -ZFPM2 UCSF GRCh37 8 106814665 106814665 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 182 29 280 0 ENST00000407775.2:c.2355C>T p.His785= p.H785= ENST00000407775 NM_012082.3 785 caC/caT 0 -ZFYVE1 UCSF GRCh37 14 73464894 73464894 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 22 200 0 ENST00000556143.1:c.613C>T p.Arg205Cys p.R205C ENST00000556143 NM_021260.2 205 Cgt/Tgt 0 -ZFYVE26 UCSF GRCh37 14 68282515 68282515 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 55 11 77 0 ENST00000347230.4:c.166G>A p.Ala56Thr p.A56T ENST00000347230 NM_015346.3 56 Gca/Aca 0 -ZFYVE9 UCSF GRCh37 1 52811820 52811820 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 31 25 71 0 ENST00000287727.3:c.4205G>A p.Gly1402Glu p.G1402E ENST00000287727 NM_004799.3 1402 gGa/gAa 0 -ZG16B UCSF GRCh37 16 2881803 2881803 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 72 19 132 0 ENST00000382280.3:c.270G>A p.Gln90= p.Q90= ENST00000382280 NM_145252.2 90 caG/caA 0 -ZMYND15 UCSF GRCh37 17 4647099 4647099 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 13 105 0 ENST00000573751.2:c.1335C>T p.Ala445= p.A445= ENST00000573751 445 gcC/gcT 0 -ZNF117 UCSF GRCh37 7 64438752 64438752 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 77 14 123 0 ENST00000282869.6:c.1197C>T p.His399= p.H399= ENST00000282869 NM_015852.3 399 caC/caT 0 -ZNF132 UCSF GRCh37 19 58945830 58945830 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 69 11 99 0 ENST00000254166.3:c.981C>T p.Thr327= p.T327= ENST00000254166 NM_003433.3 327 acC/acT 0 -ZNF155 UCSF GRCh37 19 44500799 44500799 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 115 22 171 0 ENST00000407951.2:c.823G>A p.Ala275Thr p.A275T ENST00000407951 NM_001260488.1 275 Gca/Aca 0 -ZNF177 UCSF GRCh37 19 9491788 9491788 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 170 23 206 0 ENST00000434737.2:c.781C>T p.His261Tyr p.H261Y ENST00000434737 261 Cat/Tat 0 -ZNF180 UCSF GRCh37 19 44981244 44981244 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 94 12 144 0 ENST00000221327.4:c.1454G>A p.Arg485Lys p.R485K ENST00000221327 NM_013256.4 485 aGa/aAa 0 -ZNF185 UCSF GRCh37 X 152100223 152100223 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 8 83 0 ENST00000535861.1:c.922C>T p.Pro308Ser p.P308S ENST00000535861 NM_001178106.1 308 Cca/Tca 0 -ZNF185 UCSF GRCh37 X 152083371 152083371 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 2 12 17 0 ENST00000535861.1:c.152G>A p.Arg51His p.R51H ENST00000535861 NM_001178106.1 51 cGc/cAc 0 -ZNF192 UCSF GRCh37 6 28116521 28116521 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 105 15 166 0 ENST00000330236.6:c.336G>A p.Lys112= p.K112= ENST00000330236 NM_001278122.1 112 aaG/aaA 0 -ZNF20 UCSF GRCh37 19 12244492 12244492 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 598 67 626 0 ENST00000334213.5:c.509C>T p.Pro170Leu p.P170L ENST00000334213 NM_001203250.1 170 cCc/cTc 0 -ZNF229 UCSF GRCh37 19 44933981 44933981 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 106 465 0 ENST00000588931.1:c.975G>A p.Glu325= p.E325= ENST00000588931 NM_014518.2 325 gaG/gaA 0 -ZNF24 UCSF GRCh37 18 32920385 32920385 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 16 136 0 ENST00000261332.6:c.230G>A p.Cys77Tyr p.C77Y ENST00000261332 NM_006965.2 77 tGc/tAc 0 -ZNF24 UCSF GRCh37 18 32920566 32920566 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 178 33 245 0 ENST00000261332.6:c.49C>T p.Pro17Ser p.P17S ENST00000261332 NM_006965.2 17 Cca/Tca 0 -ZNF24 UCSF GRCh37 18 32917559 32917559 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 181 34 289 0 ENST00000261332.6:c.744G>A p.Lys248= p.K248= ENST00000261332 NM_006965.2 248 aaG/aaA 0 -ZNF253 UCSF GRCh37 19 20003111 20003111 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 3 25 0 ENST00000589717.1:c.1055C>T p.Ser352Phe p.S352F ENST00000589717 NM_021047.2 352 tCc/tTc 0 -ZNF253 UCSF GRCh37 19 20003434 20003434 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 12 4 14 0 ENST00000589717.1:c.1378G>A p.Ala460Thr p.A460T ENST00000589717 NM_021047.2 460 Gct/Act 0 -ZNF259 UCSF GRCh37 11 116654325 116654325 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 88 21 112 0 ENST00000227322.3:c.902G>A p.Gly301Glu p.G301E ENST00000227322 NM_003904.3 301 gGa/gAa 0 -ZNF276 UCSF GRCh37 16 89790020 89790020 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.011,1000g2011may_all_0.0260,snp132_rs34629175 P24_Rec2 Untested WXS Illumina HiSeq 32 6 95 0 ENST00000443381.2:c.909C>T p.Pro303= p.P303= ENST00000443381 NM_001113525.1 303 ccC/ccT 0 -ZNF286A UCSF GRCh37 17 15611511 15611511 + missense_variant,NMD_transcript_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 33 7 94 0 ENST00000413242.2:c.284G>A p.Gly95Glu p.G95E ENST00000413242 95 gGa/gAa 0 -ZNF287 UCSF GRCh37 17 16456713 16456713 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 87 16 165 0 ENST00000395824.1:c.743C>T p.Thr248Ile p.T248I ENST00000395824 248 aCt/aTt 0 -ZNF292 UCSF GRCh37 6 87966064 87966064 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 215 31 294 0 ENST00000369577.3:c.2717C>T p.Ser906Phe p.S906F ENST00000369577 NM_015021.1 906 tCt/tTt 0 -ZNF295 UCSF GRCh37 21 43412147 43412147 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 144 21 195 0 ENST00000310826.5:c.2058G>A p.Lys686= p.K686= ENST00000310826 NM_001098402.1 686 aaG/aaA 0 -ZNF296 UCSF GRCh37 19 45575741 45575741 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 80 10 100 0 ENST00000303809.2:c.546G>A p.Leu182= p.L182= ENST00000303809 NM_145288.1 182 ctG/ctA 0 -ZNF318 UCSF GRCh37 6 43306112 43306112 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 164 37 234 0 ENST00000361428.2:c.5624G>A p.Arg1875Lys p.R1875K ENST00000361428 NM_014345.2 1875 aGg/aAg 0 -ZNF318 UCSF GRCh37 6 43323442 43323442 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 335 68 486 0 ENST00000361428.2:c.1630G>A p.Glu544Lys p.E544K ENST00000361428 NM_014345.2 544 Gag/Aag 0 -ZNF343 UCSF GRCh37 20 2463888 2463888 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 276 42 392 0 ENST00000278772.4:c.1719G>A p.Gly573= p.G573= ENST00000278772 NM_024325.4 573 ggG/ggA 0 -ZNF35 UCSF GRCh37 3 44694194 44694194 + splice_donor_variant Splice_Site SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 54 6 71 0 ENST00000396056.2:c.337+1G>A p.X113_splice ENST00000396056 NM_003420.3 0 -ZNF385C UCSF GRCh37 17 40183686 40183686 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 57 30 142 0 ENST00000436535.3:c.627C>T p.Ser209= p.S209= ENST00000436535 209 tcC/tcT 0 -ZNF396 UCSF GRCh37 18 32953488 32953488 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 7 70 0 ENST00000306346.1:c.494G>A p.Ser165Asn p.S165N ENST00000306346 NM_145756.2 165 aGc/aAc 0 -ZNF407 UCSF GRCh37 18 72775186 72775186 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 27 232 0 ENST00000299687.5:c.5509G>A p.Ala1837Thr p.A1837T ENST00000299687 NM_017757.2 1837 Gcg/Acg 0 -ZNF414 UCSF GRCh37 19 8576704 8576704 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 7 26 0 ENST00000393927.4:c.671C>T p.Pro224Leu p.P224L ENST00000393927 NM_001146175.1 224 cCg/cTg 0 -ZNF418 UCSF GRCh37 19 58437815 58437815 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 152 20 224 0 ENST00000396147.1:c.1734C>T p.Leu578= p.L578= ENST00000396147 NM_133460.1 578 ctC/ctT 0 -ZNF439 UCSF GRCh37 19 11979318 11979318 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 9 88 0 ENST00000304030.2:c.1434C>T p.Val478= p.V478= ENST00000304030 NM_152262.2 478 gtC/gtT 0 -ZNF44 UCSF GRCh37 19 12384680 12384680 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 395 44 420 0 ENST00000356109.5:c.534C>T p.His178= p.H178= ENST00000356109 NM_001164276.1 178 caC/caT 0 -ZNF460 UCSF GRCh37 19 57802913 57802913 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 130 23 202 0 ENST00000360338.3:c.1004C>T p.Pro335Leu p.P335L ENST00000360338 NM_006635.3 335 cCc/cTc 0 -ZNF48 UCSF GRCh37 16 30409691 30409691 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 399 75 496 0 ENST00000320159.2:c.1120C>T p.Leu374Phe p.L374F ENST00000320159 NM_152652.2 374 Ctt/Ttt 0 -ZNF496 UCSF GRCh37 1 247492641 247492641 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 18 151 0 ENST00000294753.4:c.240G>A p.Gln80= p.Q80= ENST00000294753 NM_032752.1 80 caG/caA 0 -ZNF513 UCSF GRCh37 2 27601401 27601401 + synonymous_variant Silent SNP A A G NOVEL P24_Rec2 Untested WXS Illumina HiSeq 38 22 78 0 ENST00000323703.6:c.732T>C p.Cys244= p.C244= ENST00000323703 NM_144631.5 244 tgT/tgC 0 -ZNF517 UCSF GRCh37 8 146033708 146033708 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 26 9 65 0 ENST00000359971.3:c.1407G>A p.Gln469= p.Q469= ENST00000359971 NM_213605.2 469 caG/caA 0 -ZNF518B UCSF GRCh37 4 10445190 10445190 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 208 32 277 1 ENST00000326756.3:c.2763G>A p.Arg921= p.R921= ENST00000326756 NM_053042.2 921 agG/agA 0 -ZNF521 UCSF GRCh37 18 22805963 22805963 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 165 30 217 0 ENST00000361524.3:c.1919G>A p.Gly640Asp p.G640D ENST00000361524 NM_015461.2 640 gGt/gAt 0 -ZNF526 UCSF GRCh37 19 42729057 42729057 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 269 37 377 0 ENST00000301215.3:c.502G>A p.Val168Ile p.V168I ENST00000301215 NM_133444.1 168 Gta/Ata 0 -ZNF543 UCSF GRCh37 19 57839308 57839308 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 131 29 196 0 ENST00000321545.4:c.478G>A p.Asp160Asn p.D160N ENST00000321545 NM_213598.3 160 Gat/Aat 0 -ZNF544 UCSF GRCh37 19 58757770 58757770 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.010,1000g2011may_all_0.00554 P24_Rec2 Untested WXS Illumina HiSeq 81 14 79 0 ENST00000269829.4:c.137C>T p.Thr46Ile p.T46I ENST00000269829 NM_014480.2 46 aCc/aTc 0 -ZNF544 UCSF GRCh37 19 58772931 58772931 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 172 40 238 0 ENST00000269829.4:c.959G>A p.Gly320Asp p.G320D ENST00000269829 NM_014480.2 320 gGc/gAc 0 -ZNF546 UCSF GRCh37 19 40521124 40521124 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 46 8 67 0 ENST00000347077.4:c.1947C>T p.Ser649= p.S649= ENST00000347077 NM_178544.3 649 agC/agT 0 -ZNF552 UCSF GRCh37 19 58319917 58319917 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 112 80 263 0 ENST00000391701.1:c.715C>T p.Pro239Ser p.P239S ENST00000391701 NM_024762.3 239 Cct/Tct 0 -ZNF563 UCSF GRCh37 19 12429560 12429560 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 45 5 54 0 ENST00000293725.5:c.1279G>A p.Gly427Arg p.G427R ENST00000293725 NM_145276.2 427 Ggg/Agg 0 -ZNF571 UCSF GRCh37 19 38056308 38056308 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 50 10 75 0 ENST00000328550.2:c.1022G>A p.Gly341Glu p.G341E ENST00000328550 341 gGg/gAg 0 -ZNF573 UCSF GRCh37 19 38230154 38230154 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 137 20 239 0 ENST00000590414.2:c.1237C>T p.Pro413Ser p.P413S ENST00000590414 413 Ccc/Tcc 0 -ZNF574 UCSF GRCh37 19 42584099 42584099 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 135 21 211 0 ENST00000600245.1:c.1341C>T p.Ala447= p.A447= ENST00000600245 447 gcC/gcT 0 -ZNF577 UCSF GRCh37 19 52376415 52376415 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 212 36 340 0 ENST00000301399.5:c.828G>A p.Gly276= p.G276= ENST00000301399 NM_032679.2 276 ggG/ggA 0 -ZNF585B UCSF GRCh37 19 37680656 37680656 + splice_acceptor_variant Splice_Site SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 298 55 509 0 ENST00000532828.2:c.200-1G>A p.X67_splice ENST00000532828 NM_152279.3 0 -ZNF593 UCSF GRCh37 1 26496631 26496631 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 140 24 204 0 ENST00000374266.5:c.157C>T p.Pro53Ser p.P53S ENST00000374266 NM_015871.4 53 Ccc/Tcc 0 -ZNF599 UCSF GRCh37 19 35250905 35250905 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 65 8 93 0 ENST00000329285.8:c.801G>A p.Arg267= p.R267= ENST00000329285 NM_001007248.2 267 agG/agA 0 -ZNF609 UCSF GRCh37 15 64967341 64967341 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 204 36 294 0 ENST00000326648.3:c.2288C>T p.Ser763Phe p.S763F ENST00000326648 NM_015042.1 763 tCt/tTt 0 -ZNF613 UCSF GRCh37 19 52448084 52448084 + synonymous_variant Silent SNP T T C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 239 30 358 0 ENST00000293471.6:c.948T>C p.His316= p.H316= ENST00000293471 NM_001031721.3 316 caT/caC 0 -ZNF618 UCSF GRCh37 9 116778436 116778436 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 59 12 113 0 ENST00000288466.7:c.702G>A p.Arg234= p.R234= ENST00000288466 NM_133374.2 234 agG/agA 0 -ZNF649 UCSF GRCh37 19 52394838 52394838 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 357 57 541 0 ENST00000354957.3:c.551G>A p.Gly184Glu p.G184E ENST00000354957 NM_023074.3 184 gGg/gAg 0 -ZNF662 UCSF GRCh37 3 42956793 42956793 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 187 110 427 0 ENST00000328199.6:c.1306C>T p.His436Tyr p.H436Y ENST00000328199 NM_001134656.1 436 Cat/Tat 0 -ZNF689 UCSF GRCh37 16 30615959 30615959 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 62 8 77 0 ENST00000287461.3:c.1129G>A p.Asp377Asn p.D377N ENST00000287461 NM_138447.2 377 Gac/Aac 0 -ZNF692 UCSF GRCh37 1 249151525 249151525 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 22 106 0 ENST00000451251.1:c.398C>T p.Pro133Leu p.P133L ENST00000451251 NM_001136036.2 133 cCt/cTt 0 -ZNF699 UCSF GRCh37 19 9415792 9415792 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 153 22 194 0 ENST00000591998.1:c.4G>A p.Glu2Lys p.E2K ENST00000591998 2 Gag/Aag 0 -ZNF700 UCSF GRCh37 19 12059222 12059222 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 36 4 34 0 ENST00000254321.5:c.383G>A p.Ser128Asn p.S128N ENST00000254321 NM_144566.2 128 aGc/aAc 0 -ZNF709 UCSF GRCh37 19 12575879 12575879 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 70 28 97 0 ENST00000397732.3:c.857G>A p.Gly286Asp p.G286D ENST00000397732 NM_152601.3 286 gGt/gAt 0 -ZNF711 UCSF GRCh37 X 84525896 84525896 + missense_variant Missense_Mutation SNP G G C NOVEL P24_Rec2 Untested WXS Illumina HiSeq 15 36 64 0 ENST00000373165.3:c.1348G>C p.Glu450Gln p.E450Q ENST00000373165 NM_021998.4 450 Gaa/Caa 0 -ZNF74 UCSF GRCh37 22 20754989 20754989 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 158 31 249 0 ENST00000400451.2:c.188C>T p.Pro63Leu p.P63L ENST00000400451 NM_003426.3 63 cCt/cTt 0 -ZNF768 UCSF GRCh37 16 30536258 30536258 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 81 10 96 0 ENST00000380412.5:c.1203C>T p.Phe401= p.F401= ENST00000380412 NM_024671.3 401 ttC/ttT 0 -ZNF770 UCSF GRCh37 15 35274747 35274747 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 109 146 600 0 ENST00000356321.4:c.889C>T p.Pro297Ser p.P297S ENST00000356321 NM_014106.3 297 Cca/Tca 0 -ZNF776 UCSF GRCh37 19 58265946 58265946 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 67 12 91 0 ENST00000317178.5:c.1448C>T p.Ser483Phe p.S483F ENST00000317178 NM_173632.3 483 tCt/tTt 0 -ZNF777 UCSF GRCh37 7 149152608 149152608 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 147 20 173 0 ENST00000247930.4:c.506C>T p.Ser169Phe p.S169F ENST00000247930 NM_015694.2 169 tCt/tTt 0 -ZNF780A UCSF GRCh37 19 40580810 40580810 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 113 16 141 0 ENST00000455521.1:c.1542C>T p.Tyr514= p.Y514= ENST00000455521 NM_001142577.1 514 taC/taT 0 -ZNF783 UCSF GRCh37 7 148963769 148963769 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 40 10 45 0 ENST00000434415.1:c.368G>A p.Arg123Lys p.R123K ENST00000434415 NM_001195220.1 123 aGg/aAg 0 -ZNF785 UCSF GRCh37 16 30594687 30594687 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 205 24 324 1 ENST00000395216.2:c.412G>A p.Val138Ile p.V138I ENST00000395216 NM_152458.6 138 Gtc/Atc 0 -ZNF827 UCSF GRCh37 4 146824083 146824083 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 93 22 249 0 ENST00000379448.4:c.328G>A p.Asp110Asn p.D110N ENST00000379448 NM_178835.3 110 Gac/Aac 0 -ZNF835 UCSF GRCh37 19 57175523 57175523 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 70 170 0 ENST00000537055.2:c.1044C>T p.His348= p.H348= ENST00000537055 NM_001005850.2 348 caC/caT 0 -ZNF836 UCSF GRCh37 19 52660772 52660772 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 90 13 149 0 ENST00000322146.8:c.164C>T p.Thr55Ile p.T55I ENST00000322146 NM_001102657.1 55 aCc/aTc 0 -ZNF850 UCSF GRCh37 19 37253264 37253264 + stop_gained Nonsense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 35 7 51 0 ENST00000591344.1:c.82C>T p.Gln28Ter p.Q28* ENST00000591344 NM_001193552.1 28 Cag/Tag 0 -ZNF91 UCSF GRCh37 19 23542428 23542428 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 17 3 12 0 ENST00000300619.7:c.3353C>T p.Ser1118Phe p.S1118F ENST00000300619 NM_003430.2 1118 tCc/tTc 0 -ZNF91 UCSF GRCh37 19 23543844 23543844 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 20 4 24 0 ENST00000300619.7:c.1937C>T p.Ala646Val p.A646V ENST00000300619 NM_003430.2 646 gCt/gTt 0 -ZNF92 UCSF GRCh37 7 64864293 64864293 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 6 38 0 ENST00000328747.7:c.1266G>A p.Glu422= p.E422= ENST00000328747 NM_152626.2 422 gaG/gaA 0 -ZNFX1 UCSF GRCh37 20 47887104 47887104 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 309 50 471 0 ENST00000396105.1:c.1245G>A p.Arg415= p.R415= ENST00000396105 NM_021035.2 415 agG/agA 0 -ZSCAN2 UCSF GRCh37 15 85147240 85147240 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 22 8 40 0 ENST00000448803.2:c.82G>A p.Glu28Lys p.E28K ENST00000448803 NM_181877.3 28 Gag/Aag 0 -ZSCAN2 UCSF GRCh37 15 85164314 85164314 + synonymous_variant Silent SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 82 15 111 0 ENST00000448803.2:c.888C>T p.His296= p.H296= ENST00000448803 NM_181877.3 296 caC/caT 0 -ZSCAN2 UCSF GRCh37 15 85164869 85164869 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 60 7 93 0 ENST00000448803.2:c.1443G>A p.Glu481= p.E481= ENST00000448803 NM_181877.3 481 gaG/gaA 0 -ZSCAN20 UCSF GRCh37 1 33954780 33954780 + missense_variant Missense_Mutation SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 107 29 152 0 ENST00000361328.3:c.670G>A p.Ala224Thr p.A224T ENST00000361328 NM_145238.3 224 Gct/Act 0 -ZSCAN29 UCSF GRCh37 15 43656390 43656390 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 166 27 233 0 ENST00000396976.2:c.1413C>T p.Ser471= p.S471= ENST00000396976 NM_152455.3 471 agC/agT 0 -ZSCAN5A UCSF GRCh37 19 56733157 56733157 + synonymous_variant Silent SNP G G A NOVEL P24_Rec2 Untested WXS Illumina HiSeq 78 12 97 0 ENST00000587340.1:c.1278C>T p.Tyr426= p.Y426= ENST00000587340 426 taC/taT 0 -ZW10 UCSF GRCh37 11 113619026 113619026 + missense_variant Missense_Mutation SNP C C T NOVEL P24_Rec2 Untested WXS Illumina HiSeq 210 26 340 0 ENST00000200135.3:c.1042G>A p.Val348Ile p.V348I ENST00000200135 NM_004724.3 348 Gtt/Att 0 -ABCA4 UCSF GRCh37 1 94497337 94497337 + synonymous_variant Silent SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 39 21 56 0 ENST00000370225.3:c.4125G>A p.Ala1375= p.A1375= ENST00000370225 NM_000350.2 1375 gcG/gcA 0 -ATRX UCSF GRCh37 X 76918873 76918874 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL TT TT - NOVEL P25_Pri Untested WXS Illumina HiSeq 33 0 ENST00000373344.5:c.4117_4118del p.Lys1373GlyfsTer4 p.K1373Gfs*4 ENST00000373344 NM_000489.3 1373 AAg/g 0 -CCNA1 UCSF GRCh37 13 37007335 37007335 + stop_gained Nonsense_Mutation SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 48 47 110 0 ENST00000255465.4:c.274C>T p.Gln92Ter p.Q92* ENST00000255465 92 Cag/Tag 0 -CDHR5 UCSF GRCh37 11 618683 618683 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.023,1000g2011may_all_0.0158 P25_Pri Untested WXS Illumina HiSeq 39 6 37 1 ENST00000358353.3:c.1876A>G p.Thr626Ala p.T626A ENST00000358353 626 Acc/Gcc 0 -CFHR4 UCSF GRCh37 1 196876134 196876134 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 51 38 92 0 ENST00000367416.2:c.580G>A p.Glu194Lys p.E194K ENST00000367416 NM_001201551.1 194 Gaa/Aaa 0 -DNAJC11 UCSF GRCh37 1 6727803 6727804 + frameshift_variant Frame_Shift_Del DEL TC TC - 1000g2010nov_all P25_Pri Untested WXS Illumina HiSeq 8 0 ENST00000377577.5:c.343_344delGA p.Glu115ArgfsTer25 p.E115Rfs*25 ENST00000377577 NM_018198.3 115 GAa/a 0 -FAM48A UCSF GRCh37 13 37583915 37583915 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Pri Untested WXS Illumina HiSeq 48 10 60 0 ENST00000350612.6:c.2234T>C p.Met745Thr p.M745T ENST00000350612 NM_001014286.2 745 aTg/aCg 0 -GSDMD UCSF GRCh37 8 144641513 144641513 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 90 69 146 0 ENST00000526406.1:c.8C>T p.Ser3Leu p.S3L ENST00000526406 NM_001166237.1 3 tCg/tTg 0 -HIVEP2 UCSF GRCh37 6 143092015 143092015 + synonymous_variant Silent SNP C C G NOVEL P25_Pri Untested WXS Illumina HiSeq 435 310 810 0 ENST00000367603.2:c.3861G>C p.Gly1287= p.G1287= ENST00000367603 NM_006734.3 1287 ggG/ggC 0 -HOOK3 UCSF GRCh37 8 42819516 42819519 + frameshift_variant Frame_Shift_Del DEL ACTC ACTC - NOVEL P25_Pri Untested WXS Illumina HiSeq 217 0 ENST00000307602.4:c.679_682del p.Leu227IlefsTer6 p.L227Ifs*6 ENST00000307602 NM_032410.3 226 agACTC/ag 0 -HS6ST1 UCSF GRCh37 2 129075919 129075919 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0243,snp132_rs61732019 P25_Pri Untested WXS Illumina HiSeq 11 4 28 1 ENST00000259241.6:c.219C>T p.Arg73= p.R73= ENST00000259241 NM_004807.2 73 cgC/cgT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 20 19 35 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IFNAR2 UCSF GRCh37 21 34635055 34635084 + intron_variant Intron DEL ACAGCTGATACGGACTCTCTCTCTCTTTTT ACAGCTGATACGGACTCTCTCTCTCTTTTT TACAGCTGATATGGACTCTCTCTCTC NOVEL P25_Pri Untested WXS Illumina HiSeq 31 0 ENST00000342136.4:c.841-43_841-14delinsTACAGCTGATATGGACTCTCTCTCTC *281* ENST00000342136 0 -KIAA1524 UCSF GRCh37 3 108276093 108276093 + missense_variant Missense_Mutation SNP T T A NOVEL P25_Pri Untested WXS Illumina HiSeq 64 28 103 0 ENST00000295746.8:c.2182A>T p.Thr728Ser p.T728S ENST00000295746 NM_020890.2 728 Aca/Tca 0 -KRT75 UCSF GRCh37 12 52825420 52825420 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 129 87 202 0 ENST00000252245.5:c.777C>T p.Asp259= p.D259= ENST00000252245 NM_004693.2 259 gaC/gaT 0 -MFSD7 UCSF GRCh37 4 680052 680052 + missense_variant Missense_Mutation SNP G G C NOVEL P25_Pri Untested WXS Illumina HiSeq 60 26 58 0 ENST00000322224.4:c.334C>G p.Leu112Val p.L112V ENST00000322224 112 Cta/Gta 0 -MFSD7 UCSF GRCh37 4 679684 679684 + synonymous_variant Silent SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 316 136 294 0 ENST00000322224.4:c.525C>T p.Val175= p.V175= ENST00000322224 175 gtC/gtT 0 -MUC16 UCSF GRCh37 19 9065233 9065233 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Pri Untested WXS Illumina HiSeq 100 77 162 1 ENST00000397910.4:c.22213T>C p.Ser7405Pro p.S7405P ENST00000397910 NM_024690.2 7405 Tct/Cct 0 -NAGS UCSF GRCh37 17 42084844 42084844 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 81 42 72 0 ENST00000293404.3:c.1250C>T p.Ser417Phe p.S417F ENST00000293404 NM_153006.2 417 tCc/tTc 0 -NOTCH4 UCSF GRCh37 6 32169238 32169238 + synonymous_variant Silent SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 126 123 222 0 ENST00000375023.3:c.3795C>T p.Asn1265= p.N1265= ENST00000375023 NM_004557.3 1265 aaC/aaT 0 -NRXN1 UCSF GRCh37 2 50464102 50464102 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 116 40 176 0 ENST00000404971.1:c.3491C>T p.Thr1164Met p.T1164M ENST00000404971 NM_001135659.1 1164 aCg/aTg 0 -NSRP1 UCSF GRCh37 17 28506119 28506119 + missense_variant Missense_Mutation SNP T T G NOVEL P25_Pri Untested WXS Illumina HiSeq 8 7 9 0 ENST00000247026.5:c.312T>G p.Ile104Met p.I104M ENST00000247026 NM_032141.3 104 atT/atG 0 -NXF1 UCSF GRCh37 11 62564841 62564841 + synonymous_variant Silent SNP G G T NOVEL P25_Pri Untested WXS Illumina HiSeq 25 32 52 0 ENST00000532297.1:c.1071C>A p.Pro357= p.P357= ENST00000532297 357 ccC/ccA 0 -ODZ3 UCSF GRCh37 4 183574952 183574952 + missense_variant Missense_Mutation SNP G G C NOVEL P25_Pri Untested WXS Illumina HiSeq 209 128 384 0 ENST00000511685.1:c.1017G>C p.Gln339His p.Q339H ENST00000511685 339 caG/caC 0 -OGFR UCSF GRCh37 20 61441865 61441865 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 101 44 134 0 ENST00000290291.6:c.413G>A p.Arg138Gln p.R138Q ENST00000290291 NM_007346.2 138 cGa/cAa 0 -OR13C8 UCSF GRCh37 9 107332403 107332403 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 80 9 81 0 ENST00000335040.1:c.955G>A p.Gly319Arg p.G319R ENST00000335040 NM_001004483.1 319 Gga/Aga 0 -OR2M7 UCSF GRCh37 1 248487504 248487504 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Pri Untested WXS Illumina HiSeq 12 2 22 0 ENST00000317965.2:c.367T>C p.Tyr123His p.Y123H ENST00000317965 NM_001004691.1 123 Tac/Cac 0 -PCDHB7 UCSF GRCh37 5 140553940 140553940 + synonymous_variant Silent SNP G G A snp132_rs17844458 P25_Pri Untested WXS Illumina HiSeq 14 7 9 0 ENST00000231137.3:c.1524G>A p.Ala508= p.A508= ENST00000231137 NM_018940.2 508 gcG/gcA 0 -PDE6B UCSF GRCh37 4 659088 659088 + synonymous_variant Silent SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 61 31 75 0 ENST00000496514.1:c.2238G>A p.Leu746= p.L746= ENST00000496514 746 ttG/ttA 0 -PUS10 UCSF GRCh37 2 61181117 61181117 + missense_variant Missense_Mutation SNP T T C NOVEL P25_Pri Untested WXS Illumina HiSeq 172 55 214 0 ENST00000316752.6:c.1141A>G p.Asn381Asp p.N381D ENST00000316752 NM_144709.2 381 Aat/Gat 0 -PYCR2 UCSF GRCh37 1 226108161 226108163 + inframe_deletion In_Frame_Del DEL CTT CTT - NOVEL P25_Pri Untested WXS Illumina HiSeq 7 0 ENST00000343818.6:c.955_957del p.Lys319del p.K319del ENST00000343818 NM_013328.3 319 AAG/- 0 -QRICH2 UCSF GRCh37 17 74288509 74288510 + inframe_insertion In_Frame_Ins INS - - CTGCACCAGGTTGGACCAAACCACGCTGAT NOVEL P25_Pri Untested WXS Illumina HiSeq 9 0 ENST00000262765.5:c.1800_1801insATCAGCGTGGTTTGGTCCAACCTGGTGCAG p.Ala600_Asp601insIleSerValValTrpSerAsnLeuValGln p.A600_D601insISVVWSNLVQ ENST00000262765 NM_032134.1 600 -/ATCAGCGTGGTTTGGTCCAACCTGGTGCAG 0 -RPS6KC1 UCSF GRCh37 1 213415490 213415492 + inframe_deletion In_Frame_Del DEL AAA AAA - NOVEL P25_Pri Untested WXS Illumina HiSeq 7 0 ENST00000366960.3:c.2674_2676del p.Lys892del p.K892del ENST00000366960 NM_012424.3 891 AAA/- 0 -SLC23A2 UCSF GRCh37 20 4850569 4850570 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P25_Pri Untested WXS Illumina HiSeq 13 0 ENST00000379333.1:c.1233dup p.Ile412HisfsTer18 p.I412Hfs*18 ENST00000379333 NM_203327.1 411 ccc/ccCc 0 -SLC9A1 UCSF GRCh37 1 27440317 27440317 + splice_region_variant,synonymous_variant Splice_Region SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 142 17 142 0 ENST00000263980.3:c.813G>A p.Val271= p.V271= ENST00000263980 NM_003047.4 271 gtG/gtA 0 -SPEN UCSF GRCh37 1 16257644 16257644 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 128 131 237 0 ENST00000375759.3:c.4909G>A p.Val1637Ile p.V1637I ENST00000375759 NM_015001.2 1637 Gtt/Att 0 -STXBP5 UCSF GRCh37 6 147648347 147648347 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Pri Untested WXS Illumina HiSeq 41 36 94 0 ENST00000321680.6:c.2015A>G p.Tyr672Cys p.Y672C ENST00000321680 NM_001127715.2 672 tAt/tGt 0 -TCF12 UCSF GRCh37 15 57524581 57524582 + frameshift_variant Frame_Shift_Del DEL AT AT - NOVEL P25_Pri Untested WXS Illumina HiSeq 13 0 ENST00000438423.2:c.778_779del p.Met260ValfsTer5 p.M260Vfs*5 ENST00000438423 NM_207037.1 260 ATg/g 0 -TEP1 UCSF GRCh37 14 20871601 20871601 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 148 26 131 0 ENST00000262715.5:c.1201G>A p.Glu401Lys p.E401K ENST00000262715 NM_007110.4 401 Gag/Aag 0 -THAP5 UCSF GRCh37 7 108205526 108205526 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P25_Pri Untested WXS Illumina HiSeq 10 0 ENST00000415914.3:c.297delA p.Lys99AsnfsTer25 p.K99Nfs*25 ENST00000415914 NM_001130475.1 99 aaA/aa 0 -TRPM1 UCSF GRCh37 15 31334362 31334362 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.012,1000g2011may_all_0.02529,snp132_rs17815774 P25_Pri Untested WXS Illumina HiSeq 91 49 186 0 ENST00000542188.1:c.1930G>A p.Val644Met p.V644M ENST00000542188 NM_001252020.1 644 Gtg/Atg 0 -VPS35 UCSF GRCh37 16 46706301 46706301 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Pri Untested WXS Illumina HiSeq 119 16 360 0 ENST00000299138.7:c.1244T>C p.Val415Ala p.V415A ENST00000299138 NM_018206.4 415 gTc/gCc 0 -YARS UCSF GRCh37 1 33245060 33245060 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Pri Untested WXS Illumina HiSeq 173 170 343 0 ENST00000373477.4:c.1399G>A p.Val467Met p.V467M ENST00000373477 NM_003680.3 467 Gtg/Atg 0 -YES1 UCSF GRCh37 18 756607 756607 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Pri Untested WXS Illumina HiSeq 75 47 138 0 ENST00000314574.4:c.221C>T p.Ala74Val p.A74V ENST00000314574 NM_005433.3 74 gCa/gTa 0 -ZNF761 UCSF GRCh37 19 53952869 53952869 + non_coding_transcript_exon_variant RNA SNP T T C NOVEL P25_Pri Untested WXS Illumina HiSeq 22 4 25 1 ENST00000454407.1:n.573T>C *191* ENST00000454407 0 -ZNF844 UCSF GRCh37 19 12186387 12186387 + missense_variant Missense_Mutation SNP G G T NOVEL P25_Pri Untested WXS Illumina HiSeq 100 77 183 0 ENST00000439326.3:c.452G>T p.Arg151Ile p.R151I ENST00000439326 NM_001136501.1 151 aGa/aTa 0 -ADAM32 UCSF GRCh37 8 39007313 39007313 + missense_variant Missense_Mutation SNP C C G NOVEL P25_Rec Untested WXS Illumina HiSeq 86 16 97 0 ENST00000379907.4:c.280C>G p.Gln94Glu p.Q94E ENST00000379907 NM_145004.5 94 Caa/Gaa 0 -ALB UCSF GRCh37 4 74280766 74280766 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 68 51 156 0 ENST00000295897.4:c.1073A>G p.Tyr358Cys p.Y358C ENST00000295897 NM_000477.5 358 tAt/tGt 0 -ALG8 UCSF GRCh37 11 77832193 77832193 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000299626.5:c.396delA p.Val133TrpfsTer24 p.V133Wfs*24 ENST00000299626 NM_024079.4 132 aaA/aa 0 -ALG8 UCSF GRCh37 11 77824924 77824971 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL AGGCTTACCAAGGCCAGGAAAGGACCCAATGAAAGAGCAGAAACTAAG AGGCTTACCAAGGCCAGGAAAGGACCCAATGAAAGAGCAGAAACTAAG GGCTTACCAAGGCCAGGAAAGGACCCAATGAAAGAGCAAAAACAAAA NOVEL P25_Rec Untested WXS Illumina HiSeq 11 0 ENST00000299626.5:c.738_777+8delinsTTTTGTTTTTGCTCTTTCATTGGGTCCTTTCCTGGCCTTGGTAAGCC p.X246_splice ENST00000299626 NM_024079.4 246 0 -ATRX UCSF GRCh37 X 76918873 76918874 + frameshift_variant,splice_region_variant Frame_Shift_Del DEL TT TT - NOVEL P25_Rec Untested WXS Illumina HiSeq 33 0 ENST00000373344.5:c.4117_4118del p.Lys1373GlyfsTer4 p.K1373Gfs*4 ENST00000373344 NM_000489.3 1373 AAg/g 0 -BAI3 UCSF GRCh37 6 69943256 69943257 + frameshift_variant Frame_Shift_Del DEL TA TA - NOVEL P25_Rec Untested WXS Illumina HiSeq 106 0 ENST00000370598.1:c.2556_2557del p.Cys853Ter p.C853* ENST00000370598 NM_001704.2 852 tTA/t 0 -BMPR2 UCSF GRCh37 2 203383749 203383752 + frameshift_variant Frame_Shift_Del DEL TTGC TTGC - NOVEL P25_Rec Untested WXS Illumina HiSeq 79 0 ENST00000374580.4:c.829_832del p.Leu277Ter p.L277* ENST00000374580 NM_001204.6 276 TTGCtt/tt 0 -CACNA1H UCSF GRCh37 16 1270131 1270131 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 252 28 285 0 ENST00000348261.5:c.6199G>A p.Val2067Ile p.V2067I ENST00000348261 NM_021098.2 2067 Gtc/Atc 0 -CCDC114 UCSF GRCh37 19 48800560 48800561 + frameshift_variant Frame_Shift_Del DEL AA AA - NOVEL P25_Rec Untested WXS Illumina HiSeq 57 0 ENST00000315396.7:c.1685_1686del p.Phe562TrpfsTer18 p.F562Wfs*18 ENST00000315396 NM_144577.3 562 tTT/t 0 -CCNA1 UCSF GRCh37 13 37007335 37007335 + stop_gained Nonsense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 41 13 110 0 ENST00000255465.4:c.274C>T p.Gln92Ter p.Q92* ENST00000255465 92 Cag/Tag 0 -CCNB1 UCSF GRCh37 5 68464167 68464167 + synonymous_variant Silent SNP T T C NOVEL P25_Rec Untested WXS Illumina HiSeq 157 40 189 0 ENST00000256442.5:c.360T>C p.Ile120= p.I120= ENST00000256442 NM_031966.3 120 atT/atC 0 -CCMT-ND1 UCSF GRCh37 11 69458623 69458623 + missense_variant Missense_Mutation SNP C C G NOVEL P25_Rec somatic WXS Sanger Illumina HiSeq 544 420 87 0 ENST00000227507.2:c.438C>G p.Asn146Lys p.N146K ENST00000227507 NM_053056.2 146 aaC/aaG 0 -CD93 UCSF GRCh37 20 23065795 23065795 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 137 77 299 0 ENST00000246006.4:c.1035C>T p.Asp345= p.D345= ENST00000246006 NM_012072.3 345 gaC/gaT 0 -CDH17 UCSF GRCh37 8 95201472 95201472 + synonymous_variant Silent SNP C C A NOVEL P25_Rec Untested WXS Illumina HiSeq 200 108 293 1 ENST00000027335.3:c.93G>T p.Leu31= p.L31= ENST00000027335 NM_004063.3 31 ctG/ctT 0 -CLSPN UCSF GRCh37 1 36215290 36215290 + missense_variant Missense_Mutation SNP C C G NOVEL P25_Rec Untested WXS Illumina HiSeq 106 25 142 0 ENST00000318121.3:c.2151G>C p.Lys717Asn p.K717N ENST00000318121 NM_022111.3 717 aaG/aaC 0 -CNGA3 UCSF GRCh37 2 99013128 99013128 + stop_gained Nonsense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 86 13 109 0 ENST00000393504.1:c.1495C>T p.Arg499Ter p.R499* ENST00000393504 NM_001298.2 499 Cga/Tga 0 -CNTLN UCSF GRCh37 9 17462971 17462973 + inframe_deletion In_Frame_Del DEL CTC CTC - NOVEL P25_Rec Untested WXS Illumina HiSeq 43 0 ENST00000380647.3:c.3366_3368del p.Leu1123del p.L1123del ENST00000380647 1122 CTC/- 0 -COL17A1 UCSF GRCh37 10 105815696 105815696 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 38 191 362 0 ENST00000353479.5:c.1531C>T p.Pro511Ser p.P511S ENST00000353479 NM_000494.3 511 Ccc/Tcc 0 -COL4A4 UCSF GRCh37 2 227920746 227920746 + synonymous_variant Silent SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 80 28 150 0 ENST00000396625.3:c.2631G>A p.Arg877= p.R877= ENST00000396625 NM_000092.4 877 cgG/cgA 0 -COL4A5 UCSF GRCh37 X 107846253 107846253 + stop_gained Nonsense_Mutation SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 59 42 103 0 ENST00000328300.6:c.2206G>T p.Glu736Ter p.E736* ENST00000328300 NM_033380.2 736 Gaa/Taa 0 -COL5A1 UCSF GRCh37 9 137703350 137703350 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 342 38 393 1 ENST00000371817.3:c.3595G>A p.Glu1199Lys p.E1199K ENST00000371817 NM_001278074.1 1199 Gag/Aag 0 -CPEB1 UCSF GRCh37 15 83226697 83226697 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 86 68 171 0 ENST00000568128.1:c.419G>A p.Gly140Glu p.G140E ENST00000568128 NM_030594.3 140 gGa/gAa 0 -DDX28 UCSF GRCh37 16 68055853 68055853 + missense_variant Missense_Mutation SNP T T C NOVEL P25_Rec Untested WXS Illumina HiSeq 305 230 440 0 ENST00000332395.5:c.1253A>G p.Asp418Gly p.D418G ENST00000332395 NM_018380.3 418 gAt/gGt 0 -DNAJC21 UCSF GRCh37 5 34950377 34950377 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 57 12 79 0 ENST00000382021.2:c.1423A>G p.Ser475Gly p.S475G ENST00000382021 NM_194283.3 475 Agt/Ggt 0 -ESM1 UCSF GRCh37 5 54275251 54275252 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P25_Rec Untested WXS Illumina HiSeq 177 0 ENST00000381405.4:c.464dup p.Ser156IlefsTer66 p.S156Ifs*66 ENST00000381405 NM_007036.4 155 gca/gCca 0 -FAM169BP UCSF GRCh37 15 98995135 98995135 + missense_variant Missense_Mutation SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 61 14 86 0 ENST00000558256.1:c.289C>A p.Leu97Met p.L97M ENST00000558256 NM_182562.2 97 Ctg/Atg 0 -FAM47C UCSF GRCh37 X 37027335 37027335 + synonymous_variant Silent SNP A A T NOVEL P25_Rec Untested WXS Illumina HiSeq 68 50 123 0 ENST00000358047.3:c.852A>T p.Pro284= p.P284= ENST00000358047 NM_001013736.2 284 ccA/ccT 0 -FSIP2 UCSF GRCh37 2 186697826 186697826 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 104 71 223 0 ENST00000343098.5:c.20864A>G p.Lys6955Arg p.K6955R ENST00000343098 NM_173651.2 6955 aAg/aGg 0 -GNAS UCSF GRCh37 20 57429313 57429313 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 303 47 311 0 ENST00000371100.4:c.993G>A p.Ala331= p.A331= ENST00000371100 NM_001077490.1 331 gcG/gcA 0 -GSDMD UCSF GRCh37 8 144641513 144641513 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 94 103 146 0 ENST00000526406.1:c.8C>T p.Ser3Leu p.S3L ENST00000526406 NM_001166237.1 3 tCg/tTg 0 -HIVEP2 UCSF GRCh37 6 143092015 143092015 + synonymous_variant Silent SNP C C G NOVEL P25_Rec Untested WXS Illumina HiSeq 285 241 810 0 ENST00000367603.2:c.3861G>C p.Gly1287= p.G1287= ENST00000367603 NM_006734.3 1287 ggG/ggC 0 -HMG20A UCSF GRCh37 15 77770709 77770709 + missense_variant Missense_Mutation SNP A A T NOVEL P25_Rec Untested WXS Illumina HiSeq 129 17 106 0 ENST00000381714.3:c.764A>T p.Lys255Met p.K255M ENST00000381714 NM_018200.2 255 aAg/aTg 0 -HMG20B UCSF GRCh37 19 3576984 3576984 + synonymous_variant Silent SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 64 19 82 0 ENST00000333651.6:c.687C>T p.Ser229= p.S229= ENST00000333651 NM_006339.2 229 agC/agT 0 -HRASLS2 UCSF GRCh37 11 63320450 63320450 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.001,1000g2011may_all_0.0030 P25_Rec Untested WXS Illumina HiSeq 163 23 377 0 ENST00000255695.1:c.475C>T p.Arg159Trp p.R159W ENST00000255695 NM_017878.1 159 Cgg/Tgg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 8 8 35 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL7R UCSF GRCh37 5 35875666 35875666 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 98 24 134 0 ENST00000303115.3:c.853C>T p.His285Tyr p.H285Y ENST00000303115 NM_002185.3 285 Cat/Tat 0 -INHBA UCSF GRCh37 7 41729606 41729606 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 345 103 528 0 ENST00000242208.4:c.923G>A p.Arg308His p.R308H ENST00000242208 NM_002192.2 308 cGt/cAt 0 -INTS4 UCSF GRCh37 11 77672161 77672189 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region INS ACCATGAGACGTATCTGTCAGATGCTATT ACCATGAGACGTATCTGTCAGATGCTATT CCCAAGAGACGTATCTTTCAAATGCTATTA NOVEL P25_Rec Untested WXS Illumina HiSeq 7 0 ENST00000534064.1:c.472-5_495delinsTAATAGCATTTGAAAGATACGTCTCTTGGG p.X158_splice ENST00000534064 NM_033547.3 0 -INTS4 UCSF GRCh37 11 77672148 77672189 + splice_region_variant,coding_sequence_variant,intron_variant Splice_Region INS ACTTATTTCTTACACCATGAGACGTATCTGTCAGATGCTATT ACTTATTTCTTACACCATGAGACGTATCTGTCAGATGCTATT CCTTTTTTTTTTCACCATGAGACGTATTTTTCAGAAGCTATTA NOVEL P25_Rec Untested WXS Illumina HiSeq 9 0 ENST00000534064.1:c.472-5_508delinsTAATAGCTTCTGAAAAATACGTCTCATGGTGAAAAAAAAAAGG p.X158_splice ENST00000534064 NM_033547.3 0 -INTS4 UCSF GRCh37 11 77672152 77672189 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site INS ATTTCTTACACCATGAGACGTATCTGTCAGATGCTATT ATTTCTTACACCATGAGACGTATCTGTCAGATGCTATT TTTTTTTTCACCATAAGACGTATCTTTCAAATGTTATTA NOVEL P25_Rec Untested WXS Illumina HiSeq 17 0 ENST00000534064.1:c.472-5_504delinsTAATAACATTTGAAAGATACGTCTTATGGTGAAAAAAAA p.X158_splice ENST00000534064 NM_033547.3 0 -INTS4 UCSF GRCh37 11 77672175 77672189 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site INS CTGTCAGATGCTATT CTGTCAGATGCTATT ATTTCAGATGTTATTA NOVEL P25_Rec Untested WXS Illumina HiSeq 7 0 ENST00000534064.1:c.472-5_481delinsTAATAACATCTGAAAT p.X158_splice ENST00000534064 NM_033547.3 0 -INTS4 UCSF GRCh37 11 77672165 77672189 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site INS TGAGACGTATCTGTCAGATGCTATT TGAGACGTATCTGTCAGATGCTATT AGAAAAGTTTTTTTAAAAAGTTATTA NOVEL P25_Rec Untested WXS Illumina HiSeq 7 0 ENST00000534064.1:c.472-5_491delinsTAATAACTTTTTAAAAAAACTTTTCT p.X158_splice ENST00000534064 NM_033547.3 0 -ITGA2 UCSF GRCh37 5 52385787 52385787 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 220 27 231 0 ENST00000296585.5:c.3360G>A p.Met1120Ile p.M1120I ENST00000296585 NM_002203.3 1120 atG/atA 0 -KLHDC4 UCSF GRCh37 16 87744934 87744934 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 318 38 355 0 ENST00000270583.5:c.951C>T p.Asp317= p.D317= ENST00000270583 NM_017566.3 317 gaC/gaT 0 -KRT75 UCSF GRCh37 12 52825420 52825420 + splice_region_variant,synonymous_variant Splice_Region SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 116 91 202 0 ENST00000252245.5:c.777C>T p.Asp259= p.D259= ENST00000252245 NM_004693.2 259 gaC/gaT 0 -KRT82 UCSF GRCh37 12 52793852 52793852 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.010,1000g2011may_all_0.0015,snp132_rs61730589 P25_Rec Untested WXS Illumina HiSeq 86 20 97 0 ENST00000257974.2:c.859G>A p.Gly287Ser p.G287S ENST00000257974 NM_033033.3 287 Ggc/Agc 0 -LLGL2 UCSF GRCh37 17 73569328 73569328 + synonymous_variant Silent SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 78 23 59 0 ENST00000392550.3:c.2694C>T p.Ile898= p.I898= ENST00000392550 NM_001031803.1 898 atC/atT 0 -LONRF1 UCSF GRCh37 8 12612285 12612285 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 25 30 76 0 ENST00000398246.3:c.645C>T p.Ala215= p.A215= ENST00000398246 NM_152271.3 215 gcC/gcT 0 -MARS UCSF GRCh37 12 57883053 57883053 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P25_Rec Untested WXS Illumina HiSeq 13 0 ENST00000262027.5:c.212del p.Leu71CysfsTer33 p.L71Cfs*33 ENST00000262027 NM_004990.3 68 taT/ta 0 -MARS UCSF GRCh37 12 57882776 57882808 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TAACCCATTTTCCATTCTTGCATCAGATTGTGT TAACCCATTTTCCATTCTTGCATCAGATTGTGT AACCCATTTTCCATTCTTGCATCAGATTTTGG NOVEL P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000262027.5:c.110-26_116delinsAACCCATTTTCCATTCTTGCATCAGATTTTGG p.X37_splice ENST00000262027 NM_004990.3 0 -MFSD7 UCSF GRCh37 4 680052 680052 + missense_variant Missense_Mutation SNP G G C NOVEL P25_Rec Untested WXS Illumina HiSeq 72 17 58 0 ENST00000322224.4:c.334C>G p.Leu112Val p.L112V ENST00000322224 112 Cta/Gta 0 -MFSD7 UCSF GRCh37 4 679684 679684 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 458 120 294 0 ENST00000322224.4:c.525C>T p.Val175= p.V175= ENST00000322224 175 gtC/gtT 0 -MORC4 UCSF GRCh37 X 106185751 106185751 + missense_variant Missense_Mutation SNP C C G NOVEL P25_Rec Untested WXS Illumina HiSeq 129 99 218 0 ENST00000355610.4:c.2370G>C p.Gln790His p.Q790H ENST00000355610 NM_001085354.2 790 caG/caC 0 -MUC16 UCSF GRCh37 19 9065233 9065233 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 99 72 162 1 ENST00000397910.4:c.22213T>C p.Ser7405Pro p.S7405P ENST00000397910 NM_024690.2 7405 Tct/Cct 0 -MYCN UCSF GRCh37 2 16082314 16082315 + frameshift_variant Frame_Shift_Ins INS - - C NOVEL P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000281043.3:c.134dup p.Glu47GlyfsTer8 p.E47Gfs*8 ENST00000281043 NM_005378.4 43 acc/acCc 0 -MYEOV UCSF GRCh37 11 69063724 69063724 + frameshift_variant Frame_Shift_Del DEL G G - 1000g2010nov_all P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000308946.3:c.813delG p.Trp272GlyfsTer66 p.W272Gfs*66 ENST00000308946 NM_138768.2 269 ctG/ct 0 -MYH14 UCSF GRCh37 19 50780049 50780049 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 57 11 67 0 ENST00000601313.1:c.3716A>G p.Lys1239Arg p.K1239R ENST00000601313 NM_001145809.1 1239 aAg/aGg 0 -NAGS UCSF GRCh37 17 42084844 42084844 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 84 39 72 0 ENST00000293404.3:c.1250C>T p.Ser417Phe p.S417F ENST00000293404 NM_153006.2 417 tCc/tTc 0 -NBPF1 UCSF GRCh37 1 16893721 16893721 + missense_variant Missense_Mutation SNP A A C 1000g2010nov_all_0.064 P25_Rec Untested WXS Illumina HiSeq 10 5 13 0 ENST00000430580.2:c.2792T>G p.Phe931Cys p.F931C ENST00000430580 NM_017940.4 931 tTt/tGt 0 -NLRP9 UCSF GRCh37 19 56243414 56243414 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 50 39 118 0 ENST00000332836.2:c.1783C>T p.Arg595Cys p.R595C ENST00000332836 NM_176820.2 595 Cgc/Tgc 0 -NOTCH4 UCSF GRCh37 6 32169238 32169238 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 235 106 222 0 ENST00000375023.3:c.3795C>T p.Asn1265= p.N1265= ENST00000375023 NM_004557.3 1265 aaC/aaT 0 -NRP2 UCSF GRCh37 2 206605343 206605345 + inframe_deletion In_Frame_Del DEL CAG CAG - NOVEL P25_Rec Untested WXS Illumina HiSeq 10 0 ENST00000360409.3:c.1247_1249del p.Ser416_Gly417delinsCys p.S416_G417delinsC ENST00000360409 NM_003872.2 416 tCAGgt/tgt 0 -NXF1 UCSF GRCh37 11 62564841 62564841 + synonymous_variant Silent SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 7 31 52 0 ENST00000532297.1:c.1071C>A p.Pro357= p.P357= ENST00000532297 357 ccC/ccA 0 -OGFR UCSF GRCh37 20 61441865 61441865 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 97 74 134 0 ENST00000290291.6:c.413G>A p.Arg138Gln p.R138Q ENST00000290291 NM_007346.2 138 cGa/cAa 0 -OR2A5 UCSF GRCh37 7 143747979 143747979 + missense_variant Missense_Mutation SNP T T C NOVEL P25_Rec Untested WXS Illumina HiSeq 132 56 285 0 ENST00000408906.2:c.485T>C p.Leu162Pro p.L162P ENST00000408906 NM_012365.1 162 cTc/cCc 0 -OR4S2 UCSF GRCh37 11 55419231 55419231 + synonymous_variant Silent SNP T T A NOVEL P25_Rec Untested WXS Illumina HiSeq 71 55 285 0 ENST00000312422.2:c.852T>A p.Ile284= p.I284= ENST00000312422 NM_001004059.2 284 atT/atA 0 -OR52A5 UCSF GRCh37 11 5153593 5153593 + missense_variant Missense_Mutation SNP T T C NOVEL P25_Rec Untested WXS Illumina HiSeq 177 149 573 0 ENST00000307388.1:c.280A>G p.Ile94Val p.I94V ENST00000307388 NM_001005160.2 94 Att/Gtt 0 -OR6C6 UCSF GRCh37 12 55688653 55688653 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 148 33 196 0 ENST00000358433.2:c.364G>A p.Val122Ile p.V122I ENST00000358433 NM_001005493.1 122 Gtt/Att 0 -PDE6B UCSF GRCh37 4 659088 659088 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 96 22 75 0 ENST00000496514.1:c.2238G>A p.Leu746= p.L746= ENST00000496514 746 ttG/ttA 0 -PGLYRP3 UCSF GRCh37 1 153279615 153279615 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 79 26 81 0 ENST00000290722.1:c.184G>A p.Val62Ile p.V62I ENST00000290722 NM_052891.1 62 Gtt/Att 0 -PGR UCSF GRCh37 11 100996839 100996839 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 48 24 176 0 ENST00000325455.5:c.1688C>T p.Pro563Leu p.P563L ENST00000325455 NM_001202474.3 563 cCt/cTt 0 -PIGR UCSF GRCh37 1 207105892 207105892 + synonymous_variant Silent SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 59 26 107 0 ENST00000356495.4:c.1917G>A p.Ala639= p.A639= ENST00000356495 NM_002644.3 639 gcG/gcA 0 -PLA2G4A UCSF GRCh37 1 186909194 186909194 + missense_variant Missense_Mutation SNP T T C NOVEL P25_Rec Untested WXS Illumina HiSeq 364 113 469 0 ENST00000367466.3:c.1001T>C p.Val334Ala p.V334A ENST00000367466 NM_024420.2 334 gTc/gCc 0 -PLEKHG1 UCSF GRCh37 6 151161729 151161731 + inframe_deletion In_Frame_Del DEL AGA AGA - NOVEL P25_Rec Untested WXS Illumina HiSeq 47 0 ENST00000367328.1:c.3861_3863del p.Glu1287del p.E1287del ENST00000367328 NM_001029884.1 1285 tcAGAa/tca 0 -PLEKHG6 UCSF GRCh37 12 6436644 6436644 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 68 46 96 0 ENST00000396988.3:c.1895G>A p.Arg632His p.R632H ENST00000396988 NM_001144856.1 632 cGt/cAt 0 -PRSS21 UCSF GRCh37 16 2867889 2867889 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 46 6 47 0 ENST00000005995.3:c.179G>A p.Arg60His p.R60H ENST00000005995 60 cGc/cAc 0 -QRICH2 UCSF GRCh37 17 74288509 74288510 + inframe_insertion In_Frame_Ins INS - - CTGCACCAGGTTGGACCAAACCACGCTGAT NOVEL P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000262765.5:c.1800_1801insATCAGCGTGGTTTGGTCCAACCTGGTGCAG p.Ala600_Asp601insIleSerValValTrpSerAsnLeuValGln p.A600_D601insISVVWSNLVQ ENST00000262765 NM_032134.1 600 -/ATCAGCGTGGTTTGGTCCAACCTGGTGCAG 0 -RPH3A UCSF GRCh37 12 113314503 113314503 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 63 11 69 0 ENST00000389385.4:c.1003G>A p.Gly335Arg p.G335R ENST00000389385 NM_001143854.1 335 Gga/Aga 0 -SCAMT-ND3 UCSF GRCh37 6 28543477 28543477 + missense_variant Missense_Mutation SNP C C A NOVEL P25_Rec Untested WXS Illumina HiSeq 499 78 490 0 ENST00000452236.2:c.1005G>T p.Lys335Asn p.K335N ENST00000452236 NM_052923.1 335 aaG/aaT 0 -SEC63 UCSF GRCh37 6 108214774 108214774 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000369002.4:c.1586del p.Lys529ArgfsTer4 p.K529Rfs*4 ENST00000369002 NM_007214.4 529 aAg/ag 0 -SEMA3B UCSF GRCh37 3 50310793 50310795 + intron_variant,non_coding_transcript_variant Intron DEL CTT CTT - NOVEL P25_Rec Untested WXS Illumina HiSeq 84 0 ENST00000456210.1:n.158+54_158+56delCTT *53* ENST00000456210 0 -SEMA6D UCSF GRCh37 15 48058784 48058784 + intron_variant Intron SNP G G C NOVEL P25_Rec Untested WXS Illumina HiSeq 128 30 174 0 ENST00000316364.5:c.1647-29G>C *549* ENST00000316364 NM_153618.1 0 -SIN3B UCSF GRCh37 19 16976309 16976311 + inframe_deletion In_Frame_Del DEL AGG AGG - NOVEL P25_Rec Untested WXS Illumina HiSeq 9 0 ENST00000379803.1:c.1570_1572del p.Glu524del p.E524del ENST00000379803 NM_015260.2 523 cAGGag/cag 0 -SLC23A2 UCSF GRCh37 20 4850569 4850570 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P25_Rec Untested WXS Illumina HiSeq 13 0 ENST00000379333.1:c.1233dup p.Ile412HisfsTer18 p.I412Hfs*18 ENST00000379333 NM_203327.1 411 ccc/ccCc 0 -SLC26A9 UCSF GRCh37 1 205899074 205899074 + missense_variant Missense_Mutation SNP C C G NOVEL P25_Rec Untested WXS Illumina HiSeq 59 14 80 0 ENST00000367134.2:c.663G>C p.Lys221Asn p.K221N ENST00000367134 NM_134325.2 221 aaG/aaC 0 -SLC6A3 UCSF GRCh37 5 1422076 1422076 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 122 28 141 0 ENST00000270349.9:c.707C>T p.Pro236Leu p.P236L ENST00000270349 NM_001044.4 236 cCg/cTg 0 -SLIT3 UCSF GRCh37 5 168093656 168093656 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 46 40 154 0 ENST00000519560.1:c.4375C>T p.Arg1459Cys p.R1459C ENST00000519560 NM_003062.3 1459 Cgc/Tgc 0 -SPATS2L UCSF GRCh37 2 201303884 201303884 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 147 52 216 0 ENST00000358677.5:c.485G>A p.Gly162Glu p.G162E ENST00000358677 NM_015535.2 162 gGg/gAg 0 -SPEN UCSF GRCh37 1 16257644 16257644 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 258 134 237 0 ENST00000375759.3:c.4909G>A p.Val1637Ile p.V1637I ENST00000375759 NM_015001.2 1637 Gtt/Att 0 -STXBP5 UCSF GRCh37 6 147648347 147648347 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 34 18 94 0 ENST00000321680.6:c.2015A>G p.Tyr672Cys p.Y672C ENST00000321680 NM_001127715.2 672 tAt/tGt 0 -TGM3 UCSF GRCh37 20 2312794 2312794 + missense_variant Missense_Mutation SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 119 51 228 0 ENST00000381458.5:c.1480G>T p.Ala494Ser p.A494S ENST00000381458 NM_003245.3 494 Gca/Tca 0 -TRPV5 UCSF GRCh37 7 142606703 142606703 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 23 6 47 0 ENST00000265310.1:c.1848C>T p.Ser616= p.S616= ENST00000265310 NM_019841.4 616 tcC/tcT 0 -UACA UCSF GRCh37 15 70959163 70959163 + missense_variant Missense_Mutation SNP T T C NOVEL P25_Rec Untested WXS Illumina HiSeq 334 46 424 1 ENST00000322954.6:c.3860A>G p.Lys1287Arg p.K1287R ENST00000322954 NM_018003.2 1287 aAg/aGg 0 -USP35 UCSF GRCh37 11 77920720 77920722 + inframe_deletion In_Frame_Del DEL CGC CGC - NOVEL P25_Rec Untested WXS Illumina HiSeq 6 0 ENST00000529308.1:c.1829_1831del p.Arg610del p.R610del ENST00000529308 NM_020798.2 607 CGC/- 0 -VPS35 UCSF GRCh37 16 46706301 46706301 + missense_variant Missense_Mutation SNP A A G NOVEL P25_Rec Untested WXS Illumina HiSeq 227 195 360 0 ENST00000299138.7:c.1244T>C p.Val415Ala p.V415A ENST00000299138 NM_018206.4 415 gTc/gCc 0 -WDR49 UCSF GRCh37 3 167249025 167249025 + missense_variant Missense_Mutation SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 63 12 105 0 ENST00000308378.3:c.1040C>A p.Pro347His p.P347H ENST00000308378 NM_178824.3 347 cCc/cAc 0 -WIF1 UCSF GRCh37 12 65514908 65514908 + missense_variant Missense_Mutation SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 15 3 25 0 ENST00000286574.4:c.64C>A p.Leu22Met p.L22M ENST00000286574 NM_007191.4 22 Ctg/Atg 0 -WRAP53 UCSF GRCh37 17 7592209 7592210 + frameshift_variant Frame_Shift_Del DEL AG AG - NOVEL P25_Rec Untested WXS Illumina HiSeq 70 0 ENST00000316024.5:c.245_246del p.Glu82ValfsTer5 p.E82Vfs*5 ENST00000316024 81 acAGag/acag 0 -YARS UCSF GRCh37 1 33245060 33245060 + missense_variant Missense_Mutation SNP C C T NOVEL P25_Rec Untested WXS Illumina HiSeq 293 159 343 0 ENST00000373477.4:c.1399G>A p.Val467Met p.V467M ENST00000373477 NM_003680.3 467 Gtg/Atg 0 -YES1 UCSF GRCh37 18 756607 756607 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 86 73 138 0 ENST00000314574.4:c.221C>T p.Ala74Val p.A74V ENST00000314574 NM_005433.3 74 gCa/gTa 0 -ZDBF2 UCSF GRCh37 2 207176038 207176038 + synonymous_variant Silent SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 150 50 243 0 ENST00000374423.3:c.6786G>A p.Ala2262= p.A2262= ENST00000374423 NM_020923.1 2262 gcG/gcA 0 -ZMYM6 UCSF GRCh37 1 35496163 35496165 + inframe_deletion In_Frame_Del DEL TTC TTC - NOVEL P25_Rec Untested WXS Illumina HiSeq 22 0 ENST00000357182.4:c.76_78del p.Glu26del p.E26del ENST00000357182 NM_007167.3 26 GAA/- 0 -ZNF202 UCSF GRCh37 11 123596991 123596991 + missense_variant Missense_Mutation SNP G G A NOVEL P25_Rec Untested WXS Illumina HiSeq 256 38 512 0 ENST00000336139.4:c.1661C>T p.Ala554Val p.A554V ENST00000336139 554 gCg/gTg 0 -ZNF208 UCSF GRCh37 19 22157024 22157024 + missense_variant Missense_Mutation SNP A A T NOVEL P25_Rec Untested WXS Illumina HiSeq 24 6 23 0 ENST00000397126.4:c.812T>A p.Ile271Asn p.I271N ENST00000397126 NM_007153.3 271 aTc/aAc 0 -ZNF844 UCSF GRCh37 19 12186387 12186387 + missense_variant Missense_Mutation SNP G G T NOVEL P25_Rec Untested WXS Illumina HiSeq 116 94 183 0 ENST00000439326.3:c.452G>T p.Arg151Ile p.R151I ENST00000439326 NM_001136501.1 151 aGa/aTa 0 -ZNF90 UCSF GRCh37 19 20228765 20228765 + missense_variant Missense_Mutation SNP C C A NOVEL P25_Rec Untested WXS Illumina HiSeq 154 41 222 0 ENST00000418063.2:c.402C>A p.Asn134Lys p.N134K ENST00000418063 NM_007138.1 134 aaC/aaA 0 -ANK3 UCSF GRCh37 10 61946630 61946630 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Pri_A Untested WXS Illumina HiSeq 42 29 101 0 ENST00000280772.2:c.1928A>G p.Gln643Arg p.Q643R ENST00000280772 NM_020987.3 643 cAg/cGg 0 -ANKRD30B UCSF GRCh37 18 14851953 14851953 + missense_variant Missense_Mutation SNP A A T NOVEL P26_Pri_A Untested WXS Illumina HiSeq 33 5 56 0 ENST00000358984.4:c.3653A>T p.Asp1218Val p.D1218V ENST00000358984 NM_001145029.1 1218 gAt/gTt 0 -ATRX UCSF GRCh37 X 76909677 76909681 + frameshift_variant Frame_Shift_Del DEL CTTTC CTTTC - NOVEL P26_Pri_A Untested WXS Illumina HiSeq 73 0 ENST00000373344.5:c.4224_4228del p.Lys1408AsnfsTer11 p.K1408Nfs*11 ENST00000373344 NM_000489.3 1408 aaGAAAGca/aaca 0 -CHD4 UCSF GRCh37 12 6692539 6692539 + synonymous_variant Silent SNP T T C NOVEL P26_Pri_A Untested WXS Illumina HiSeq 27 28 49 0 ENST00000357008.2:c.3885A>G p.Glu1295= p.E1295= ENST00000357008 NM_001273.2 1295 gaA/gaG 0 -EMR3 UCSF GRCh37 19 14748981 14748981 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Pri_A Untested WXS Illumina HiSeq 98 57 163 0 ENST00000253673.5:c.1420G>A p.Val474Ile p.V474I ENST00000253673 NM_032571.3 474 Gtt/Att 0 -EYS UCSF GRCh37 6 66112482 66112482 + missense_variant Missense_Mutation SNP C C G NOVEL P26_Pri_A Untested WXS Illumina HiSeq 84 54 138 0 ENST00000503581.1:c.1073G>C p.Cys358Ser p.C358S ENST00000503581 NM_001142800.1 358 tGt/tCt 0 -FGFR4 UCSF GRCh37 5 176522719 176522719 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Pri_A Untested WXS Illumina HiSeq 29 20 36 0 ENST00000292408.4:c.1816C>T p.Arg606Trp p.R606W ENST00000292408 NM_213647.1 606 Cgg/Tgg 0 -GAD1 UCSF GRCh37 2 171700560 171700565 + inframe_deletion In_Frame_Del DEL CATATG CATATG - NOVEL P26_Pri_A Untested WXS Illumina HiSeq 73 0 ENST00000358196.3:c.644_649del p.Thr215_Glu217delinsLys p.T215_E217delinsK ENST00000358196 NM_000817.2 215 aCATATGaa/aaa 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Pri_A Untested WXS Illumina HiSeq 13 16 27 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGHMBP2 UCSF GRCh37 11 68707014 68707014 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Pri_A Untested WXS Illumina HiSeq 8 12 25 0 ENST00000255078.3:c.2797G>A p.Gly933Ser p.G933S ENST00000255078 NM_002180.2 933 Ggt/Agt 0 -KIF26B UCSF GRCh37 1 245848890 245848890 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Pri_A Untested WXS Illumina HiSeq 91 66 164 0 ENST00000407071.2:c.2605G>A p.Gly869Arg p.G869R ENST00000407071 NM_018012.3 869 Ggg/Agg 0 -MED12 UCSF GRCh37 X 70357661 70357661 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Pri_A Untested WXS Illumina HiSeq 164 117 283 0 ENST00000374080.3:c.5912A>C p.Gln1971Pro p.Q1971P ENST00000374080 1971 cAg/cCg 0 -MURC UCSF GRCh37 9 103348678 103348678 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Pri_A Untested WXS Illumina HiSeq 190 49 156 0 ENST00000307584.5:c.1040A>G p.Gln347Arg p.Q347R ENST00000307584 NM_001018116.2 347 cAg/cGg 0 -NCOA6 UCSF GRCh37 20 33338237 33338237 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Pri_A Untested WXS Illumina HiSeq 43 43 94 0 ENST00000374796.2:c.1761T>G p.Ile587Met p.I587M ENST00000374796 587 atT/atG 0 -PCDHB2 UCSF GRCh37 5 140475862 140475862 + synonymous_variant Silent SNP G G A 1000g2011may_all_0.0149,snp132_rs61745643 P26_Pri_A Untested WXS Illumina HiSeq 22 4 28 1 ENST00000194155.4:c.1488G>A p.Gln496= p.Q496= ENST00000194155 NM_018936.2 496 caG/caA 0 -PGGT1B UCSF GRCh37 5 114552629 114552629 + missense_variant Missense_Mutation SNP T T A NOVEL P26_Pri_A Untested WXS Illumina HiSeq 14 17 25 0 ENST00000419445.1:c.885A>T p.Arg295Ser p.R295S ENST00000419445 NM_005023.3 295 agA/agT 0 -RBMX UCSF GRCh37 X 135958696 135958696 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.08188,snp132_rs112800567 P26_Pri_A Untested WXS Illumina HiSeq 19 6 20 1 ENST00000320676.7:c.507A>G p.Gly169= p.G169= ENST00000320676 NM_002139.3 169 ggA/ggG 0 -RELN UCSF GRCh37 7 103138574 103138574 + synonymous_variant Silent SNP T T G NOVEL P26_Pri_A Untested WXS Illumina HiSeq 114 38 153 0 ENST00000428762.1:c.8793A>C p.Gly2931= p.G2931= ENST00000428762 NM_005045.3 2931 ggA/ggC 0 -RETSAT UCSF GRCh37 2 85570849 85570849 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.169,snp132_rs28418594 P26_Pri_A Untested WXS Illumina HiSeq 12 4 17 0 ENST00000295802.4:c.1606G>A p.Gly536Arg p.G536R ENST00000295802 NM_017750.3 536 Ggg/Agg 0 -SCN9A UCSF GRCh37 2 167056179 167056179 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Pri_A Untested WXS Illumina HiSeq 49 35 92 0 ENST00000409672.1:c.4937T>C p.Ile1646Thr p.I1646T ENST00000409672 NM_002977.3 1646 aTc/aCc 0 -SFI1 UCSF GRCh37 22 32014359 32014359 + synonymous_variant Silent SNP C C T NOVEL P26_Pri_A Untested WXS Illumina HiSeq 39 43 70 0 ENST00000400288.2:c.3684C>T p.Gly1228= p.G1228= ENST00000400288 NM_001007467.2 1228 ggC/ggT 0 -SLC38A8 UCSF GRCh37 16 84050190 84050190 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Pri_A Untested WXS Illumina HiSeq 28 26 43 1 ENST00000299709.3:c.1096C>T p.Pro366Ser p.P366S ENST00000299709 NM_001080442.1 366 Cct/Tct 0 -SPP1 UCSF GRCh37 4 88903874 88903875 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P26_Pri_A Untested WXS Illumina HiSeq 73 0 ENST00000395080.3:c.771_772del p.Ser258ArgfsTer4 p.S258Rfs*4 ENST00000395080 NM_001040058.1 257 caTTcc/cacc 0 -TBC1D5 UCSF GRCh37 3 17279718 17279718 + stop_gained Nonsense_Mutation SNP G G A NOVEL P26_Pri_A Untested WXS Illumina HiSeq 189 134 261 0 ENST00000446818.2:c.1525C>T p.Gln509Ter p.Q509* ENST00000446818 NM_001134381.1 509 Caa/Taa 0 -TIAM1 UCSF GRCh37 21 32639259 32639259 + synonymous_variant Silent SNP C C T NOVEL P26_Pri_A Untested WXS Illumina HiSeq 36 16 68 0 ENST00000286827.3:c.30G>A p.Glu10= p.E10= ENST00000286827 NM_003253.2 10 gaG/gaA 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Pri_A Untested WXS Illumina HiSeq 6 67 73 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -XPO7 UCSF GRCh37 8 21862569 21862569 + synonymous_variant Silent SNP T T C NOVEL P26_Pri_A Untested WXS Illumina HiSeq 240 181 396 1 ENST00000252512.9:c.3234T>C p.Tyr1078= p.Y1078= ENST00000252512 NM_015024.4 1078 taT/taC 0 -AIM2 UCSF GRCh37 1 159032487 159032487 + frameshift_variant Frame_Shift_Del DEL T T - 1000g2010nov_all P26_Pri_B Untested WXS Illumina HiSeq 6 0 ENST00000368130.4:c.1027delA p.Thr343HisfsTer14 p.T343Hfs*14 ENST00000368130 NM_004833.1 343 Aca/ca 0 -ANK3 UCSF GRCh37 10 61946630 61946630 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 27 21 101 0 ENST00000280772.2:c.1928A>G p.Gln643Arg p.Q643R ENST00000280772 NM_020987.3 643 cAg/cGg 0 -ATRX UCSF GRCh37 X 76909677 76909681 + frameshift_variant Frame_Shift_Del DEL CTTTC CTTTC - NOVEL P26_Pri_B Untested WXS Illumina HiSeq 85 0 ENST00000373344.5:c.4224_4228del p.Lys1408AsnfsTer11 p.K1408Nfs*11 ENST00000373344 NM_000489.3 1408 aaGAAAGca/aaca 0 -C20orf96(NM_080571:exon2:c.17+2->TA) UCSF GRCh37 20 271226 271227 + splice_region_variant,intron_variant Splice_Region INS - - TA NOVEL P26_Pri_B Untested WXS Illumina HiSeq 11 0 ENST00000360321.2:c.20+6_20+7dup p.X7_splice ENST00000360321 NM_153269.2 0 -CDC27 UCSF GRCh37 17 45234707 45234707 + missense_variant Missense_Mutation SNP T T A 1000g2010nov_all_0.209,snp132_rs75353677 P26_Pri_B Untested WXS Illumina HiSeq 44 7 47 1 ENST00000531206.1:c.519A>T p.Leu173Phe p.L173F ENST00000531206 173 ttA/ttT 0 -CHD4 UCSF GRCh37 12 6692539 6692539 + synonymous_variant Silent SNP T T C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 22 16 49 0 ENST00000357008.2:c.3885A>G p.Glu1295= p.E1295= ENST00000357008 NM_001273.2 1295 gaA/gaG 0 -EMR3 UCSF GRCh37 19 14748981 14748981 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Pri_B Untested WXS Illumina HiSeq 71 48 163 0 ENST00000253673.5:c.1420G>A p.Val474Ile p.V474I ENST00000253673 NM_032571.3 474 Gtt/Att 0 -EYS UCSF GRCh37 6 66112482 66112482 + missense_variant Missense_Mutation SNP C C G NOVEL P26_Pri_B Untested WXS Illumina HiSeq 81 48 138 0 ENST00000503581.1:c.1073G>C p.Cys358Ser p.C358S ENST00000503581 NM_001142800.1 358 tGt/tCt 0 -FGFR4 UCSF GRCh37 5 176522719 176522719 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Pri_B Untested WXS Illumina HiSeq 11 6 36 0 ENST00000292408.4:c.1816C>T p.Arg606Trp p.R606W ENST00000292408 NM_213647.1 606 Cgg/Tgg 0 -GAD1 UCSF GRCh37 2 171700560 171700565 + inframe_deletion In_Frame_Del DEL CATATG CATATG - NOVEL P26_Pri_B Untested WXS Illumina HiSeq 55 0 ENST00000358196.3:c.644_649del p.Thr215_Glu217delinsLys p.T215_E217delinsK ENST00000358196 NM_000817.2 215 aCATATGaa/aaa 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Pri_B Untested WXS Illumina HiSeq 13 10 27 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGHMBP2 UCSF GRCh37 11 68707014 68707014 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Pri_B Untested WXS Illumina HiSeq 13 9 25 0 ENST00000255078.3:c.2797G>A p.Gly933Ser p.G933S ENST00000255078 NM_002180.2 933 Ggt/Agt 0 -KIF26B UCSF GRCh37 1 245848890 245848890 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Pri_B Untested WXS Illumina HiSeq 82 47 164 0 ENST00000407071.2:c.2605G>A p.Gly869Arg p.G869R ENST00000407071 NM_018012.3 869 Ggg/Agg 0 -MED12 UCSF GRCh37 X 70357661 70357661 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 82 71 283 0 ENST00000374080.3:c.5912A>C p.Gln1971Pro p.Q1971P ENST00000374080 1971 cAg/cCg 0 -MURC UCSF GRCh37 9 103348678 103348678 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Pri_B Untested WXS Illumina HiSeq 159 56 156 0 ENST00000307584.5:c.1040A>G p.Gln347Arg p.Q347R ENST00000307584 NM_001018116.2 347 cAg/cGg 0 -NCOA6 UCSF GRCh37 20 33338237 33338237 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 38 29 94 0 ENST00000374796.2:c.1761T>G p.Ile587Met p.I587M ENST00000374796 587 atT/atG 0 -NEUROD6 UCSF GRCh37 7 31378635 31378635 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P26_Pri_B Untested WXS Illumina HiSeq 6 0 ENST00000297142.3:c.248delA p.Lys83ArgfsTer35 p.K83Rfs*35 ENST00000297142 NM_022728.3 83 aAg/ag 0 -PCNXL3 UCSF GRCh37 11 65383789 65383789 + missense_variant Missense_Mutation SNP T T G NOVEL P26_Pri_B Untested WXS Illumina HiSeq 27 4 61 1 ENST00000355703.3:c.7T>G p.Ser3Ala p.S3A ENST00000355703 NM_032223.2 3 Tcg/Gcg 0 -PGGT1B UCSF GRCh37 5 114552629 114552629 + missense_variant Missense_Mutation SNP T T A NOVEL P26_Pri_B Untested WXS Illumina HiSeq 16 8 25 0 ENST00000419445.1:c.885A>T p.Arg295Ser p.R295S ENST00000419445 NM_005023.3 295 agA/agT 0 -POPDC2 UCSF GRCh37 3 119378815 119378815 + synonymous_variant Silent SNP T T G NOVEL P26_Pri_B Untested WXS Illumina HiSeq 16 10 38 0 ENST00000264231.3:c.456A>C p.Thr152= p.T152= ENST00000264231 NM_022135.2 152 acA/acC 0 -PRG4 UCSF GRCh37 1 186276052 186276052 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 37 6 71 1 ENST00000445192.2:c.1201A>C p.Thr401Pro p.T401P ENST00000445192 NM_005807.3 401 Acc/Ccc 0 -PRICKLE4 UCSF GRCh37 6 41754576 41754595 + protein_altering_variant In_Frame_Ins INS CGCTGCTGCCGGCGGTTCCA CGCTGCTGCCGGCGGTTCCA TCTCGCTGCTGCCGGCGGTTTCC NOVEL P26_Pri_B Untested WXS Illumina HiSeq 14 0 ENST00000458694.1:c.864_883delinsTCTCGCTGCTGCCGGCGGTTTCC p.Ala289_Ser295delinsLeuAlaAlaAlaGlyGlyPheArg p.A289_S295delinsLAAAGGFR ENST00000458694 NM_013397.5 288 ctCGCTGCTGCCGGCGGTTCCAgc/ctTCTCGCTGCTGCCGGCGGTTTCCgc 0 -RBM45 UCSF GRCh37 2 178988920 178988920 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P26_Pri_B Untested WXS Illumina HiSeq 6 0 ENST00000286070.5:c.1143delA p.Ala382LeufsTer7 p.A382Lfs*7 ENST00000286070 NM_152945.2 379 Aaa/aa 0 -RELN UCSF GRCh37 7 103138574 103138574 + synonymous_variant Silent SNP T T G NOVEL P26_Pri_B Untested WXS Illumina HiSeq 138 37 153 0 ENST00000428762.1:c.8793A>C p.Gly2931= p.G2931= ENST00000428762 NM_005045.3 2931 ggA/ggC 0 -SCN9A UCSF GRCh37 2 167056179 167056179 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Pri_B Untested WXS Illumina HiSeq 40 26 92 0 ENST00000409672.1:c.4937T>C p.Ile1646Thr p.I1646T ENST00000409672 NM_002977.3 1646 aTc/aCc 0 -SFI1 UCSF GRCh37 22 32014359 32014359 + synonymous_variant Silent SNP C C T NOVEL P26_Pri_B Untested WXS Illumina HiSeq 28 27 70 0 ENST00000400288.2:c.3684C>T p.Gly1228= p.G1228= ENST00000400288 NM_001007467.2 1228 ggC/ggT 0 -SLC38A8 UCSF GRCh37 16 84050190 84050190 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Pri_B Untested WXS Illumina HiSeq 35 18 43 1 ENST00000299709.3:c.1096C>T p.Pro366Ser p.P366S ENST00000299709 NM_001080442.1 366 Cct/Tct 0 -SPP1 UCSF GRCh37 4 88903874 88903875 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P26_Pri_B Untested WXS Illumina HiSeq 92 0 ENST00000395080.3:c.771_772del p.Ser258ArgfsTer4 p.S258Rfs*4 ENST00000395080 NM_001040058.1 257 caTTcc/cacc 0 -TBC1D5 UCSF GRCh37 3 17279718 17279718 + stop_gained Nonsense_Mutation SNP G G A NOVEL P26_Pri_B Untested WXS Illumina HiSeq 206 134 261 0 ENST00000446818.2:c.1525C>T p.Gln509Ter p.Q509* ENST00000446818 NM_001134381.1 509 Caa/Taa 0 -TIAM1 UCSF GRCh37 21 32639259 32639259 + synonymous_variant Silent SNP C C T NOVEL P26_Pri_B Untested WXS Illumina HiSeq 38 20 68 0 ENST00000286827.3:c.30G>A p.Glu10= p.E10= ENST00000286827 NM_003253.2 10 gaG/gaA 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 11 44 73 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -XPO7 UCSF GRCh37 8 21862569 21862569 + synonymous_variant Silent SNP T T C NOVEL P26_Pri_B Untested WXS Illumina HiSeq 262 191 396 1 ENST00000252512.9:c.3234T>C p.Tyr1078= p.Y1078= ENST00000252512 NM_015024.4 1078 taT/taC 0 -ANK3 UCSF GRCh37 10 61946630 61946630 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 56 43 101 0 ENST00000280772.2:c.1928A>G p.Gln643Arg p.Q643R ENST00000280772 NM_020987.3 643 cAg/cGg 0 -ATN1 UCSF GRCh37 12 7044946 7044946 + synonymous_variant Silent SNP A A G NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 667 180 581 0 ENST00000356654.4:c.516A>G p.Pro172= p.P172= ENST00000356654 NM_001007026.1 172 ccA/ccG 0 -ATRX UCSF GRCh37 X 76909677 76909681 + frameshift_variant Frame_Shift_Del DEL CTTTC CTTTC - NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 89 0 ENST00000373344.5:c.4224_4228del p.Lys1408AsnfsTer11 p.K1408Nfs*11 ENST00000373344 NM_000489.3 1408 aaGAAAGca/aaca 0 -BNIP3L UCSF GRCh37 8 26265590 26265590 + missense_variant Missense_Mutation SNP G G C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 140 39 157 0 ENST00000380629.2:c.432G>C p.Trp144Cys p.W144C ENST00000380629 NM_004331.2 144 tgG/tgC 0 -CHD4 UCSF GRCh37 12 6692539 6692539 + synonymous_variant Silent SNP T T C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 49 34 49 0 ENST00000357008.2:c.3885A>G p.Glu1295= p.E1295= ENST00000357008 NM_001273.2 1295 gaA/gaG 0 -CSNK1G1 UCSF GRCh37 15 64496629 64496639 + splice_donor_variant,intron_variant Splice_Site DEL AGGATACTTAC AGGATACTTAC GGATACTTAA NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 8 0 ENST00000303052.7:c.999+1_999+11delinsTTAAGTATCC p.X333_splice ENST00000303052 NM_022048.3 0 -EMR3 UCSF GRCh37 19 14748981 14748981 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 125 72 163 0 ENST00000253673.5:c.1420G>A p.Val474Ile p.V474I ENST00000253673 NM_032571.3 474 Gtt/Att 0 -ESX1 UCSF GRCh37 X 103495090 103495090 + missense_variant Missense_Mutation SNP G G C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 16 9 10 1 ENST00000372588.4:c.1040C>G p.Pro347Arg p.P347R ENST00000372588 NM_153448.3 347 cCt/cGt 0 -EYS UCSF GRCh37 6 66112482 66112482 + missense_variant Missense_Mutation SNP C C G NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 107 85 138 0 ENST00000503581.1:c.1073G>C p.Cys358Ser p.C358S ENST00000503581 NM_001142800.1 358 tGt/tCt 0 -FAM108A1 UCSF GRCh37 19 1881408 1881408 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 8 6 11 0 ENST00000250974.9:c.158T>C p.Leu53Ser p.L53S ENST00000250974 NM_031213.3 53 tTg/tCg 0 -FGFR4 UCSF GRCh37 5 176522719 176522719 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 20 27 36 0 ENST00000292408.4:c.1816C>T p.Arg606Trp p.R606W ENST00000292408 NM_213647.1 606 Cgg/Tgg 0 -GAD1 UCSF GRCh37 2 171700560 171700565 + inframe_deletion In_Frame_Del DEL CATATG CATATG - NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 68 0 ENST00000358196.3:c.644_649del p.Thr215_Glu217delinsLys p.T215_E217delinsK ENST00000358196 NM_000817.2 215 aCATATGaa/aaa 0 -GPRC6A UCSF GRCh37 6 117114050 117114050 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.00362,snp132_rs118009892 P26_Rec1_A Untested WXS Illumina HiSeq 399 129 373 0 ENST00000310357.3:c.2036C>T p.Thr679Met p.T679M ENST00000310357 NM_148963.2 679 aCg/aTg 0 -HSPA6 UCSF GRCh37 1 161495338 161495338 + missense_variant Missense_Mutation SNP C C A 1000g2010nov_all_0.001,1000g2011may_all_0.0102,snp132_rs41297718 P26_Rec1_A Untested WXS Illumina HiSeq 15 3 9 0 ENST00000309758.4:c.890C>A p.Thr297Lys p.T297K ENST00000309758 NM_002155.3 297 aCg/aAg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 16 21 27 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGHMBP2 UCSF GRCh37 11 68707014 68707014 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 23 11 25 0 ENST00000255078.3:c.2797G>A p.Gly933Ser p.G933S ENST00000255078 NM_002180.2 933 Ggt/Agt 0 -KIF26B UCSF GRCh37 1 245848890 245848890 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 115 102 164 0 ENST00000407071.2:c.2605G>A p.Gly869Arg p.G869R ENST00000407071 NM_018012.3 869 Ggg/Agg 0 -KIR2DS4 UCSF GRCh37 19 55349113 55349113 + synonymous_variant Silent SNP G G A snp132_rs1049284 P26_Rec1_A Untested WXS Illumina HiSeq 18 4 18 1 ENST00000339924.8:c.153G>A p.Ser51= p.S51= ENST00000339924 NM_001281971.1 51 tcG/tcA 0 -KRT8 UCSF GRCh37 12 53298675 53298675 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 13 3 25 0 ENST00000552150.1:c.175T>G p.Ser59Ala p.S59A ENST00000552150 NM_001256282.1 59 Tcc/Gcc 0 -MED12 UCSF GRCh37 X 70357661 70357661 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 255 131 283 0 ENST00000374080.3:c.5912A>C p.Gln1971Pro p.Q1971P ENST00000374080 1971 cAg/cCg 0 -MURC UCSF GRCh37 9 103348678 103348678 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 197 43 156 0 ENST00000307584.5:c.1040A>G p.Gln347Arg p.Q347R ENST00000307584 NM_001018116.2 347 cAg/cGg 0 -MYBPC2 UCSF GRCh37 19 50967755 50967755 + synonymous_variant Silent SNP C C T NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 137 36 103 0 ENST00000357701.5:c.3381C>T p.Gly1127= p.G1127= ENST00000357701 NM_004533.3 1127 ggC/ggT 0 -MYO1G UCSF GRCh37 7 45009376 45009376 + synonymous_variant Silent SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 507 60 459 0 ENST00000258787.7:c.1431C>T p.Thr477= p.T477= ENST00000258787 NM_033054.2 477 acC/acT 0 -NBPF10 UCSF GRCh37 1 145293510 145293510 + missense_variant Missense_Mutation SNP C C G 1000g2010nov_all_0.173,snp132_rs4356110 P26_Rec1_A Untested WXS Illumina HiSeq 22 5 14 1 ENST00000342960.5:c.105C>G p.Phe35Leu p.F35L ENST00000342960 NM_001039703.5 35 ttC/ttG 0 -NBPF10 UCSF GRCh37 1 145293498 145293498 + missense_variant Missense_Mutation SNP G G C 1000g2010nov_all_0.245,1000g2011may_all_0.29821,snp132_rs4409714 P26_Rec1_A Untested WXS Illumina HiSeq 23 4 13 0 ENST00000342960.5:c.93G>C p.Lys31Asn p.K31N ENST00000342960 NM_001039703.5 31 aaG/aaC 0 -NBPF10 UCSF GRCh37 1 145293490 145293490 + missense_variant Missense_Mutation SNP G G C 1000g2010nov_all_0.242,1000g2011may_all_0.26292,snp132_rs6671335 P26_Rec1_A Untested WXS Illumina HiSeq 23 5 13 0 ENST00000342960.5:c.85G>C p.Ala29Pro p.A29P ENST00000342960 NM_001039703.5 29 Gca/Cca 0 -NCOA6 UCSF GRCh37 20 33338237 33338237 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 80 54 94 0 ENST00000374796.2:c.1761T>G p.Ile587Met p.I587M ENST00000374796 587 atT/atG 0 -PGGT1B UCSF GRCh37 5 114552629 114552629 + missense_variant Missense_Mutation SNP T T A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 22 12 25 0 ENST00000419445.1:c.885A>T p.Arg295Ser p.R295S ENST00000419445 NM_005023.3 295 agA/agT 0 -POTED UCSF GRCh37 21 14982676 14982676 + missense_variant Missense_Mutation SNP A A G snp132_rs2605913 P26_Rec1_A Untested WXS Illumina HiSeq 19 3 23 1 ENST00000299443.5:c.127A>G p.Met43Val p.M43V ENST00000299443 NM_174981.3 43 Atg/Gtg 0 -RBM45 UCSF GRCh37 2 178988920 178988920 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 7 0 ENST00000286070.5:c.1143delA p.Ala382LeufsTer7 p.A382Lfs*7 ENST00000286070 NM_152945.2 379 Aaa/aa 0 -RBMX UCSF GRCh37 X 135958696 135958696 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.08188,snp132_rs112800567 P26_Rec1_A Untested WXS Illumina HiSeq 20 6 20 1 ENST00000320676.7:c.507A>G p.Gly169= p.G169= ENST00000320676 NM_002139.3 169 ggA/ggG 0 -SCN9A UCSF GRCh37 2 167056179 167056179 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 56 42 92 0 ENST00000409672.1:c.4937T>C p.Ile1646Thr p.I1646T ENST00000409672 NM_002977.3 1646 aTc/aCc 0 -SELE UCSF GRCh37 1 169698648 169698648 + synonymous_variant Silent SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 219 49 201 0 ENST00000333360.7:c.882C>T p.Asn294= p.N294= ENST00000333360 NM_000450.2 294 aaC/aaT 0 -SFI1 UCSF GRCh37 22 32014359 32014359 + synonymous_variant Silent SNP C C T NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 52 57 70 0 ENST00000400288.2:c.3684C>T p.Gly1228= p.G1228= ENST00000400288 NM_001007467.2 1228 ggC/ggT 0 -SLC38A8 UCSF GRCh37 16 84050190 84050190 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 39 26 43 1 ENST00000299709.3:c.1096C>T p.Pro366Ser p.P366S ENST00000299709 NM_001080442.1 366 Cct/Tct 0 -SPP1 UCSF GRCh37 4 88903874 88903875 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 136 0 ENST00000395080.3:c.771_772del p.Ser258ArgfsTer4 p.S258Rfs*4 ENST00000395080 NM_001040058.1 257 caTTcc/cacc 0 -TBC1D5 UCSF GRCh37 3 17279718 17279718 + stop_gained Nonsense_Mutation SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 220 152 261 0 ENST00000446818.2:c.1525C>T p.Gln509Ter p.Q509* ENST00000446818 NM_001134381.1 509 Caa/Taa 0 -TIAM1 UCSF GRCh37 21 32639259 32639259 + synonymous_variant Silent SNP C C T NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 50 45 68 0 ENST00000286827.3:c.30G>A p.Glu10= p.E10= ENST00000286827 NM_003253.2 10 gaG/gaA 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 16 76 73 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -TXLNB UCSF GRCh37 6 139563882 139563882 + synonymous_variant Silent SNP A A G NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 153 33 98 0 ENST00000358430.3:c.1836T>C p.Gly612= p.G612= ENST00000358430 NM_153235.3 612 ggT/ggC 0 -WNK3 UCSF GRCh37 X 54224946 54224946 + synonymous_variant Silent SNP G G A NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 148 42 121 0 ENST00000354646.2:c.5214C>T p.His1738= p.H1738= ENST00000354646 NM_020922.4 1738 caC/caT 0 -XPO7 UCSF GRCh37 8 21862569 21862569 + synonymous_variant Silent SNP T T C NOVEL P26_Rec1_A Untested WXS Illumina HiSeq 309 236 396 1 ENST00000252512.9:c.3234T>C p.Tyr1078= p.Y1078= ENST00000252512 NM_015024.4 1078 taT/taC 0 -ANK3 UCSF GRCh37 10 61946630 61946630 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 26 15 101 0 ENST00000280772.2:c.1928A>G p.Gln643Arg p.Q643R ENST00000280772 NM_020987.3 643 cAg/cGg 0 -ATN1 UCSF GRCh37 12 7044946 7044946 + synonymous_variant Silent SNP A A G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 268 64 581 0 ENST00000356654.4:c.516A>G p.Pro172= p.P172= ENST00000356654 NM_001007026.1 172 ccA/ccG 0 -ATRX UCSF GRCh37 X 76909677 76909681 + frameshift_variant Frame_Shift_Del DEL CTTTC CTTTC - NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 73 0 ENST00000373344.5:c.4224_4228del p.Lys1408AsnfsTer11 p.K1408Nfs*11 ENST00000373344 NM_000489.3 1408 aaGAAAGca/aaca 0 -BNIP3L UCSF GRCh37 8 26265590 26265590 + missense_variant Missense_Mutation SNP G G C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 110 24 157 0 ENST00000380629.2:c.432G>C p.Trp144Cys p.W144C ENST00000380629 NM_004331.2 144 tgG/tgC 0 -C8A UCSF GRCh37 1 57351611 57351611 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.008,1000g2011may_all_0.0213,snp132_rs77289345 P26_Rec1_B Untested WXS Illumina HiSeq 39 6 66 0 ENST00000361249.3:c.867C>T p.Phe289= p.F289= ENST00000361249 NM_000562.2 289 ttC/ttT 0 -CHD4 UCSF GRCh37 12 6692539 6692539 + synonymous_variant Silent SNP T T C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 14 11 49 0 ENST00000357008.2:c.3885A>G p.Glu1295= p.E1295= ENST00000357008 NM_001273.2 1295 gaA/gaG 0 -DYNC1H1 UCSF GRCh37 14 102468978 102468978 + synonymous_variant Silent SNP T T G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 18 6 49 0 ENST00000360184.4:c.4647T>G p.Gly1549= p.G1549= ENST00000360184 NM_001376.4 1549 ggT/ggG 0 -EFS UCSF GRCh37 14 23828664 23828664 + synonymous_variant Silent SNP T T G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 26 8 72 1 ENST00000216733.3:c.1023A>C p.Pro341= p.P341= ENST00000216733 NM_005864.3 341 ccA/ccC 0 -EMR3 UCSF GRCh37 19 14748981 14748981 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 51 38 163 0 ENST00000253673.5:c.1420G>A p.Val474Ile p.V474I ENST00000253673 NM_032571.3 474 Gtt/Att 0 -EYS UCSF GRCh37 6 66112482 66112482 + missense_variant Missense_Mutation SNP C C G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 58 57 138 0 ENST00000503581.1:c.1073G>C p.Cys358Ser p.C358S ENST00000503581 NM_001142800.1 358 tGt/tCt 0 -FGFR4 UCSF GRCh37 5 176522719 176522719 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 3 16 36 0 ENST00000292408.4:c.1816C>T p.Arg606Trp p.R606W ENST00000292408 NM_213647.1 606 Cgg/Tgg 0 -GAD1 UCSF GRCh37 2 171700560 171700565 + inframe_deletion In_Frame_Del DEL CATATG CATATG - NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 44 0 ENST00000358196.3:c.644_649del p.Thr215_Glu217delinsLys p.T215_E217delinsK ENST00000358196 NM_000817.2 215 aCATATGaa/aaa 0 -GPRC6A UCSF GRCh37 6 117114050 117114050 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.003,1000g2011may_all_0.00362,snp132_rs118009892 P26_Rec1_B Untested WXS Illumina HiSeq 236 59 373 0 ENST00000310357.3:c.2036C>T p.Thr679Met p.T679M ENST00000310357 NM_148963.2 679 aCg/aTg 0 -HERC3 UCSF GRCh37 4 89627987 89627987 + missense_variant Missense_Mutation SNP A A T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 170 27 388 0 ENST00000402738.1:c.3029A>T p.Glu1010Val p.E1010V ENST00000402738 NM_014606.2 1010 gAg/gTg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 10 9 27 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IGHMBP2 UCSF GRCh37 11 68707014 68707014 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 9 12 25 0 ENST00000255078.3:c.2797G>A p.Gly933Ser p.G933S ENST00000255078 NM_002180.2 933 Ggt/Agt 0 -IL17RA UCSF GRCh37 22 17581248 17581248 + missense_variant Missense_Mutation SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 148 19 309 0 ENST00000319363.6:c.427C>T p.Arg143Cys p.R143C ENST00000319363 NM_014339.6 143 Cgt/Tgt 0 -KIF26B UCSF GRCh37 1 245848890 245848890 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 36 36 164 0 ENST00000407071.2:c.2605G>A p.Gly869Arg p.G869R ENST00000407071 NM_018012.3 869 Ggg/Agg 0 -MED12 UCSF GRCh37 X 70357661 70357661 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 64 43 283 0 ENST00000374080.3:c.5912A>C p.Gln1971Pro p.Q1971P ENST00000374080 1971 cAg/cCg 0 -MURC UCSF GRCh37 9 103348678 103348678 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 146 24 156 0 ENST00000307584.5:c.1040A>G p.Gln347Arg p.Q347R ENST00000307584 NM_001018116.2 347 cAg/cGg 0 -MYBPC2 UCSF GRCh37 19 50967755 50967755 + synonymous_variant Silent SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 60 12 103 0 ENST00000357701.5:c.3381C>T p.Gly1127= p.G1127= ENST00000357701 NM_004533.3 1127 ggC/ggT 0 -NCOA6 UCSF GRCh37 20 33338237 33338237 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 39 22 94 0 ENST00000374796.2:c.1761T>G p.Ile587Met p.I587M ENST00000374796 587 atT/atG 0 -PRICKLE4 UCSF GRCh37 6 41754576 41754595 + protein_altering_variant In_Frame_Ins INS CGCTGCTGCCGGCGGTTCCA CGCTGCTGCCGGCGGTTCCA TCTCGCTGCTGCCGGCGGTTTCC NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 6 0 ENST00000458694.1:c.864_883delinsTCTCGCTGCTGCCGGCGGTTTCC p.Ala289_Ser295delinsLeuAlaAlaAlaGlyGlyPheArg p.A289_S295delinsLAAAGGFR ENST00000458694 NM_013397.5 288 ctCGCTGCTGCCGGCGGTTCCAgc/ctTCTCGCTGCTGCCGGCGGTTTCCgc 0 -RBMX UCSF GRCh37 X 135958696 135958696 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.08188,snp132_rs112800567 P26_Rec1_B Untested WXS Illumina HiSeq 13 3 20 1 ENST00000320676.7:c.507A>G p.Gly169= p.G169= ENST00000320676 NM_002139.3 169 ggA/ggG 0 -SCN9A UCSF GRCh37 2 167056179 167056179 + missense_variant Missense_Mutation SNP A A G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 35 26 92 0 ENST00000409672.1:c.4937T>C p.Ile1646Thr p.I1646T ENST00000409672 NM_002977.3 1646 aTc/aCc 0 -SELE UCSF GRCh37 1 169698648 169698648 + synonymous_variant Silent SNP G G A NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 86 32 201 0 ENST00000333360.7:c.882C>T p.Asn294= p.N294= ENST00000333360 NM_000450.2 294 aaC/aaT 0 -SFI1 UCSF GRCh37 22 32014359 32014359 + synonymous_variant Silent SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 15 18 70 0 ENST00000400288.2:c.3684C>T p.Gly1228= p.G1228= ENST00000400288 NM_001007467.2 1228 ggC/ggT 0 -SLC38A8 UCSF GRCh37 16 84050190 84050190 + missense_variant Missense_Mutation SNP G G A NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 12 12 43 1 ENST00000299709.3:c.1096C>T p.Pro366Ser p.P366S ENST00000299709 NM_001080442.1 366 Cct/Tct 0 -SPP1 UCSF GRCh37 4 88903874 88903875 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 60 0 ENST00000395080.3:c.771_772del p.Ser258ArgfsTer4 p.S258Rfs*4 ENST00000395080 NM_001040058.1 257 caTTcc/cacc 0 -TBC1D5 UCSF GRCh37 3 17279718 17279718 + stop_gained Nonsense_Mutation SNP G G A NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 158 127 261 0 ENST00000446818.2:c.1525C>T p.Gln509Ter p.Q509* ENST00000446818 NM_001134381.1 509 Caa/Taa 0 -TIAM1 UCSF GRCh37 21 32639259 32639259 + synonymous_variant Silent SNP C C T NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 22 28 68 0 ENST00000286827.3:c.30G>A p.Glu10= p.E10= ENST00000286827 NM_003253.2 10 gaG/gaA 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 2 32 73 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -TRIM3 UCSF GRCh37 11 6472156 6472156 + missense_variant Missense_Mutation SNP A A C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 29 7 74 0 ENST00000525074.1:c.1836T>G p.Phe612Leu p.F612L ENST00000525074 NM_001248006.1 612 ttT/ttG 0 -TXLNB UCSF GRCh37 6 139563882 139563882 + synonymous_variant Silent SNP A A G NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 58 10 98 0 ENST00000358430.3:c.1836T>C p.Gly612= p.G612= ENST00000358430 NM_153235.3 612 ggT/ggC 0 -USP51 UCSF GRCh37 X 55514172 55514172 + missense_variant Missense_Mutation SNP T T C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 135 18 193 0 ENST00000500968.3:c.1201A>G p.Thr401Ala p.T401A ENST00000500968 NM_201286.3 401 Aca/Gca 0 -WNK3 UCSF GRCh37 X 54224946 54224946 + synonymous_variant Silent SNP G G A NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 75 14 121 0 ENST00000354646.2:c.5214C>T p.His1738= p.H1738= ENST00000354646 NM_020922.4 1738 caC/caT 0 -XPO7 UCSF GRCh37 8 21862569 21862569 + synonymous_variant Silent SNP T T C NOVEL P26_Rec1_B Untested WXS Illumina HiSeq 186 184 396 1 ENST00000252512.9:c.3234T>C p.Tyr1078= p.Y1078= ENST00000252512 NM_015024.4 1078 taT/taC 0 -AKR1D1 UCSF GRCh37 7 137791441 137791441 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Pri_A Untested WXS Illumina HiSeq 182 63 221 0 ENST00000242375.3:c.667G>C p.Gly223Arg p.G223R ENST00000242375 NM_005989.3 223 Ggg/Cgg 0 -AMIGO1 UCSF GRCh37 1 110051079 110051079 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 149 67 207 0 ENST00000369864.4:c.456C>T p.Cys152= p.C152= ENST00000369864 152 tgC/tgT 0 -ATRX UCSF GRCh37 X 76938099 76938100 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P27_Pri_A Untested WXS Illumina HiSeq 121 0 ENST00000373344.5:c.2648_2649del p.Gln883ArgfsTer13 p.Q883Rfs*13 ENST00000373344 NM_000489.3 883 cAA/c 0 -BIRC6 UCSF GRCh37 2 32740799 32740823 + frameshift_variant Frame_Shift_Del DEL ATTTCATGCCATCCTAATAATCAAA ATTTCATGCCATCCTAATAATCAAA - NOVEL P27_Pri_A Untested WXS Illumina HiSeq 6 0 ENST00000421745.2:c.11312_11336del p.Ile3771SerfsTer2 p.I3771Sfs*2 ENST00000421745 NM_016252.3 3771 ATTTCATGCCATCCTAATAATCAAAag/ag 0 -CDKN2A UCSF GRCh37 9 21970993 21970993 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P27_Pri_A Untested WXS Illumina HiSeq 9 0 ENST00000304494.5:c.365del p.Gly122AlafsTer24 p.G122Afs*24 ENST00000304494 NM_000077.4 122 gGc/gc 0 -CNTNAP2 UCSF GRCh37 7 147844772 147844772 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 71 18 57 0 ENST00000361727.3:c.2744G>A p.Arg915His p.R915H ENST00000361727 NM_014141.5 915 cGc/cAc 0 -CTNMT-ND2 UCSF GRCh37 5 11364832 11364832 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_A Untested WXS Illumina HiSeq 29 25 49 0 ENST00000304623.8:c.1348A>G p.Thr450Ala p.T450A ENST00000304623 NM_001332.2 450 Acc/Gcc 0 -DMWD UCSF GRCh37 19 46287928 46287928 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 68 66 142 0 ENST00000270223.6:c.1948C>T p.Pro650Ser p.P650S ENST00000270223 NM_004943.1 650 Ccc/Tcc 0 -DNAJC11 UCSF GRCh37 1 6700009 6700009 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 45 18 63 0 ENST00000377577.5:c.1206C>T p.Ala402= p.A402= ENST00000377577 NM_018198.3 402 gcC/gcT 0 -DUOXA2 UCSF GRCh37 15 45408389 45408389 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 155 113 307 0 ENST00000323030.5:c.273C>T p.Ser91= p.S91= ENST00000323030 NM_207581.3 91 agC/agT 0 -FLG UCSF GRCh37 1 152284325 152284325 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Pri_A Untested WXS Illumina HiSeq 28 18 47 0 ENST00000368799.1:c.3037T>C p.Ser1013Pro p.S1013P ENST00000368799 NM_002016.1 1013 Tcc/Ccc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 7 25 35 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL11 UCSF GRCh37 19 55879672 55879672 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.010,1000g2011may_all_0.0145,snp132_rs4252548 P27_Pri_A Untested WXS Illumina HiSeq 17 11 31 0 ENST00000264563.2:c.335G>A p.Arg112His p.R112H ENST00000264563 NM_000641.3 112 cGc/cAc 0 -KATNB1 UCSF GRCh37 16 57787370 57787370 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 99 49 116 0 ENST00000379661.3:c.1116C>T p.Ser372= p.S372= ENST00000379661 NM_005886.2 372 tcC/tcT 0 -KRT12 UCSF GRCh37 17 39023245 39023246 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P27_Pri_A Untested WXS Illumina HiSeq 151 0 ENST00000251643.4:c.194dup p.Ser66Ter p.S66* ENST00000251643 NM_000223.3 65 tct/tCct 0 -KRTAP4-6 UCSF GRCh37 17 39296422 39296422 + synonymous_variant Silent SNP A A G NOVEL P27_Pri_A Untested WXS Illumina HiSeq 24 6 19 0 ENST00000345847.4:c.318T>C p.Arg106= p.R106= ENST00000345847 NM_030976.1 106 cgT/cgC 0 -MUC6 UCSF GRCh37 11 1031684 1031684 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 106 41 158 0 ENST00000421673.2:c.406G>A p.Gly136Ser p.G136S ENST00000421673 NM_005961.2 136 Ggc/Agc 0 -MYO18B UCSF GRCh37 22 26159269 26159269 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 105 80 213 0 ENST00000335473.7:c.111C>T p.Phe37= p.F37= ENST00000335473 NM_032608.5 37 ttC/ttT 0 -NBPF1 UCSF GRCh37 1 16918473 16918473 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.016,snp132_rs60465633 P27_Pri_A somatic WXS Sanger Illumina HiSeq 19 4 23 1 ENST00000430580.2:c.44C>T p.Thr15Met p.T15M ENST00000430580 NM_017940.4 15 aCg/aTg 0 -OGFR UCSF GRCh37 20 61444845 61444845 + synonymous_variant Silent SNP G G A snp132_rs112106909 P27_Pri_A Untested WXS Illumina HiSeq 16 3 18 1 ENST00000290291.6:c.1878G>A p.Pro626= p.P626= ENST00000290291 NM_007346.2 626 ccG/ccA 0 -OR10AG1 UCSF GRCh37 11 55735772 55735772 + missense_variant Missense_Mutation SNP A A T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 109 43 166 1 ENST00000312345.2:c.168T>A p.Asn56Lys p.N56K ENST00000312345 NM_001005491.1 56 aaT/aaA 0 -POTEH UCSF GRCh37 22 16287368 16287368 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 13 5 14 0 ENST00000343518.6:c.518G>A p.Arg173His p.R173H ENST00000343518 NM_001136213.1 173 cGt/cAt 0 -PRAMEF20 UCSF GRCh37 1 13743058 13743058 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.039,1000g2011may_all_0.0457,snp132_rs77164784 P27_Pri_A Untested WXS Illumina HiSeq 14 8 17 0 ENST00000316412.5:c.247G>A p.Asp83Asn p.D83N ENST00000316412 NM_001099852.1 83 Gat/Aat 0 -PRF1 UCSF GRCh37 10 72358862 72358862 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 41 41 107 0 ENST00000441259.1:c.615C>T p.Asn205= p.N205= ENST00000441259 NM_005041.4 205 aaC/aaT 0 -PRSS50 UCSF GRCh37 3 46753929 46753929 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 32 22 43 0 ENST00000460241.1:c.965G>T p.Trp322Leu p.W322L ENST00000460241 322 tGg/tTg 0 -PSKH2 UCSF GRCh37 8 87060758 87060758 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_A Untested WXS Illumina HiSeq 66 45 160 0 ENST00000276616.2:c.1091A>G p.Lys364Arg p.K364R ENST00000276616 NM_033126.1 364 aAa/aGa 0 -SCN2A UCSF GRCh37 2 166237141 166237141 + missense_variant Missense_Mutation SNP T T G NOVEL P27_Pri_A Untested WXS Illumina HiSeq 173 26 138 0 ENST00000357398.3:c.4348T>G p.Tyr1450Asp p.Y1450D ENST00000357398 1450 Tat/Gat 0 -SEMA4D UCSF GRCh37 9 92008491 92008491 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 29 20 76 0 ENST00000450295.1:c.494C>T p.Thr165Ile p.T165I ENST00000450295 165 aCa/aTa 0 -SLCO6A1 UCSF GRCh37 5 101735273 101735273 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 61 32 63 0 ENST00000506729.1:c.1800C>T p.Val600= p.V600= ENST00000506729 600 gtC/gtT 0 -SMARCA4 UCSF GRCh37 19 11141559 11141559 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Pri_A somatic WXS Sanger Illumina HiSeq 22 4 36 0 ENST00000344626.4:c.3536A>G p.Asn1179Ser p.N1179S ENST00000344626 NM_003072.3 1179 aAt/aGt 0 -SPHKAP UCSF GRCh37 2 228883637 228883637 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_A Untested WXS Illumina HiSeq 114 104 199 0 ENST00000392056.3:c.1933A>G p.Arg645Gly p.R645G ENST00000392056 NM_001142644.1 645 Agg/Ggg 0 -TMEM95 UCSF GRCh37 17 7258580 7258580 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_A Untested WXS Illumina HiSeq 69 42 118 0 ENST00000330767.4:c.57C>T p.Phe19= p.F19= ENST00000330767 NM_198154.1 19 ttC/ttT 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_A Untested WXS Illumina HiSeq 14 71 71 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -WDR62 UCSF GRCh37 19 36585008 36585008 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_A Untested WXS Illumina HiSeq 114 45 166 0 ENST00000401500.2:c.2409G>A p.Glu803= p.E803= ENST00000401500 NM_001083961.1 803 gaG/gaA 0 -ZKSCAN4 UCSF GRCh37 6 28213206 28213206 + missense_variant Missense_Mutation SNP C C G NOVEL P27_Pri_A Untested WXS Illumina HiSeq 280 197 579 0 ENST00000377294.2:c.1326G>C p.Arg442Ser p.R442S ENST00000377294 NM_019110.3 442 agG/agC 0 -ZSWIM5 UCSF GRCh37 1 45516885 45516885 + synonymous_variant Silent SNP T T C NOVEL P27_Pri_A Untested WXS Illumina HiSeq 59 66 186 0 ENST00000359600.5:c.1293A>G p.Lys431= p.K431= ENST00000359600 NM_020883.1 431 aaA/aaG 0 -ABI3BP UCSF GRCh37 3 100712213 100712213 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 44 5 75 0 ENST00000284322.5:c.37G>T p.Gly13Trp p.G13W ENST00000284322 NM_015429.3 13 Ggg/Tgg 0 -AKR1D1 UCSF GRCh37 7 137791441 137791441 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 137 63 221 0 ENST00000242375.3:c.667G>C p.Gly223Arg p.G223R ENST00000242375 NM_005989.3 223 Ggg/Cgg 0 -AMIGO1 UCSF GRCh37 1 110051079 110051079 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 76 38 207 0 ENST00000369864.4:c.456C>T p.Cys152= p.C152= ENST00000369864 152 tgC/tgT 0 -ANKRD22 UCSF GRCh37 10 90591731 90591731 + missense_variant Missense_Mutation SNP A A C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 36 14 130 0 ENST00000371930.4:c.74T>G p.Val25Gly p.V25G ENST00000371930 NM_144590.2 25 gTg/gGg 0 -ATP7B UCSF GRCh37 13 52524503 52524503 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 36 4 121 0 ENST00000242839.4:c.2480G>T p.Arg827Leu p.R827L ENST00000242839 NM_000053.3 827 cGg/cTg 0 -ATRX UCSF GRCh37 X 76938099 76938100 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P27_Pri_B Untested WXS Illumina HiSeq 96 0 ENST00000373344.5:c.2648_2649del p.Gln883ArgfsTer13 p.Q883Rfs*13 ENST00000373344 NM_000489.3 883 cAA/c 0 -B3GNT3 UCSF GRCh37 19 17918779 17918779 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 24 4 69 0 ENST00000318683.6:c.163C>A p.Arg55Ser p.R55S ENST00000318683 NM_014256.3 55 Cgc/Agc 0 -CBX4 UCSF GRCh37 17 77808322 77808322 + synonymous_variant Silent SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 24 3 58 0 ENST00000269397.4:c.1119G>T p.Pro373= p.P373= ENST00000269397 NM_003655.2 373 ccG/ccT 0 -CCDC60 UCSF GRCh37 12 119773023 119773023 + synonymous_variant Silent SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 34 4 105 0 ENST00000327554.2:c.42C>A p.Pro14= p.P14= ENST00000327554 NM_178499.3 14 ccC/ccA 0 -CNTNAP2 UCSF GRCh37 7 147844772 147844772 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 34 16 57 0 ENST00000361727.3:c.2744G>A p.Arg915His p.R915H ENST00000361727 NM_014141.5 915 cGc/cAc 0 -CTNMT-ND2 UCSF GRCh37 5 11364832 11364832 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 16 10 49 0 ENST00000304623.8:c.1348A>G p.Thr450Ala p.T450A ENST00000304623 NM_001332.2 450 Acc/Gcc 0 -DMWD UCSF GRCh37 19 46287928 46287928 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 37 42 142 0 ENST00000270223.6:c.1948C>T p.Pro650Ser p.P650S ENST00000270223 NM_004943.1 650 Ccc/Tcc 0 -DNAJC11 UCSF GRCh37 1 6700009 6700009 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 20 13 63 0 ENST00000377577.5:c.1206C>T p.Ala402= p.A402= ENST00000377577 NM_018198.3 402 gcC/gcT 0 -DUOXA2 UCSF GRCh37 15 45408389 45408389 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 67 42 307 0 ENST00000323030.5:c.273C>T p.Ser91= p.S91= ENST00000323030 NM_207581.3 91 agC/agT 0 -FLG UCSF GRCh37 1 152284325 152284325 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Pri_B Untested WXS Illumina HiSeq 15 10 47 0 ENST00000368799.1:c.3037T>C p.Ser1013Pro p.S1013P ENST00000368799 NM_002016.1 1013 Tcc/Ccc 0 -FMN2 UCSF GRCh37 1 240255560 240255560 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 35 19 85 0 ENST00000319653.9:c.151G>A p.Gly51Arg p.G51R ENST00000319653 NM_020066.4 51 Ggg/Agg 0 -FUCA1 UCSF GRCh37 1 24181025 24181025 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 36 4 51 0 ENST00000374479.3:c.794G>T p.Trp265Leu p.W265L ENST00000374479 NM_000147.4 265 tGg/tTg 0 -GGA2 UCSF GRCh37 16 23481419 23481419 + synonymous_variant Silent SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 27 3 57 0 ENST00000309859.4:c.1518G>T p.Thr506= p.T506= ENST00000309859 NM_015044.4 506 acG/acT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 10 16 35 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -INPP5F UCSF GRCh37 10 121556378 121556378 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 13 3 37 0 ENST00000361976.2:c.821C>A p.Pro274Gln p.P274Q ENST00000361976 NM_014937.3 274 cCa/cAa 0 -KATNB1 UCSF GRCh37 16 57787370 57787370 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 24 27 116 0 ENST00000379661.3:c.1116C>T p.Ser372= p.S372= ENST00000379661 NM_005886.2 372 tcC/tcT 0 -KRT12 UCSF GRCh37 17 39023245 39023246 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P27_Pri_B Untested WXS Illumina HiSeq 63 0 ENST00000251643.4:c.194dup p.Ser66Ter p.S66* ENST00000251643 NM_000223.3 65 tct/tCct 0 -MATK UCSF GRCh37 19 3784435 3784435 + synonymous_variant Silent SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 19 3 28 0 ENST00000395045.2:c.150G>T p.Pro50= p.P50= ENST00000395045 NM_002378.3 50 ccG/ccT 0 -MUC6 UCSF GRCh37 11 1031684 1031684 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 46 18 158 0 ENST00000421673.2:c.406G>A p.Gly136Ser p.G136S ENST00000421673 NM_005961.2 136 Ggc/Agc 0 -MYO18B UCSF GRCh37 22 26159269 26159269 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 36 24 213 0 ENST00000335473.7:c.111C>T p.Phe37= p.F37= ENST00000335473 NM_032608.5 37 ttC/ttT 0 -NBPF1 UCSF GRCh37 1 16893813 16893813 + synonymous_variant Silent SNP A A G snp132_rs58611269 P27_Pri_B Untested WXS Illumina HiSeq 11 4 19 0 ENST00000430580.2:c.2700T>C p.Pro900= p.P900= ENST00000430580 NM_017940.4 900 ccT/ccC 0 -OPN4 UCSF GRCh37 10 88418431 88418431 + synonymous_variant Silent SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 18 3 31 0 ENST00000372071.2:c.648C>A p.Pro216= p.P216= ENST00000372071 NM_001030015.2 216 ccC/ccA 0 -OR10AG1 UCSF GRCh37 11 55735772 55735772 + missense_variant Missense_Mutation SNP A A T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 55 23 166 1 ENST00000312345.2:c.168T>A p.Asn56Lys p.N56K ENST00000312345 NM_001005491.1 56 aaT/aaA 0 -PRF1 UCSF GRCh37 10 72358862 72358862 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 18 15 107 0 ENST00000441259.1:c.615C>T p.Asn205= p.N205= ENST00000441259 NM_005041.4 205 aaC/aaT 0 -PRSS50 UCSF GRCh37 3 46753929 46753929 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 19 11 43 0 ENST00000460241.1:c.965G>T p.Trp322Leu p.W322L ENST00000460241 322 tGg/tTg 0 -PSKH2 UCSF GRCh37 8 87060758 87060758 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 38 28 160 0 ENST00000276616.2:c.1091A>G p.Lys364Arg p.K364R ENST00000276616 NM_033126.1 364 aAa/aGa 0 -RASGRP2 UCSF GRCh37 11 64509576 64509576 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 24 3 73 0 ENST00000354024.3:c.82G>T p.Gly28Trp p.G28W ENST00000354024 NM_153819.1 28 Ggg/Tgg 0 -SCN2A UCSF GRCh37 2 166237141 166237141 + missense_variant Missense_Mutation SNP T T G NOVEL P27_Pri_B Untested WXS Illumina HiSeq 106 13 138 0 ENST00000357398.3:c.4348T>G p.Tyr1450Asp p.Y1450D ENST00000357398 1450 Tat/Gat 0 -SEMA4D UCSF GRCh37 9 92008491 92008491 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 28 17 76 0 ENST00000450295.1:c.494C>T p.Thr165Ile p.T165I ENST00000450295 165 aCa/aTa 0 -SH3BGRL2 UCSF GRCh37 6 80383448 80383448 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 29 4 54 0 ENST00000369838.4:c.163C>A p.Pro55Thr p.P55T ENST00000369838 NM_031469.2 55 Ccg/Acg 0 -SLCO6A1 UCSF GRCh37 5 101735273 101735273 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 37 16 63 0 ENST00000506729.1:c.1800C>T p.Val600= p.V600= ENST00000506729 600 gtC/gtT 0 -SMARCA4 UCSF GRCh37 19 11141559 11141559 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Pri_B Untested WXS Illumina HiSeq 13 5 36 0 ENST00000344626.4:c.3536A>G p.Asn1179Ser p.N1179S ENST00000344626 NM_003072.3 1179 aAt/aGt 0 -SPHKAP UCSF GRCh37 2 228883637 228883637 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 82 51 199 0 ENST00000392056.3:c.1933A>G p.Arg645Gly p.R645G ENST00000392056 NM_001142644.1 645 Agg/Ggg 0 -TMEM95 UCSF GRCh37 17 7258580 7258580 + synonymous_variant Silent SNP C C T NOVEL P27_Pri_B Untested WXS Illumina HiSeq 26 17 118 0 ENST00000330767.4:c.57C>T p.Phe19= p.F19= ENST00000330767 NM_198154.1 19 ttC/ttT 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 7 25 71 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -WDR62 UCSF GRCh37 19 36585008 36585008 + synonymous_variant Silent SNP G G A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 90 40 166 0 ENST00000401500.2:c.2409G>A p.Glu803= p.E803= ENST00000401500 NM_001083961.1 803 gaG/gaA 0 -ZAK UCSF GRCh37 2 174081976 174081976 + missense_variant,splice_region_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 14 3 29 0 ENST00000375213.3:c.985C>A p.Pro329Thr p.P329T ENST00000375213 NM_016653.2 329 Ccg/Acg 0 -ZKSCAN4 UCSF GRCh37 6 28213206 28213206 + missense_variant Missense_Mutation SNP C C G NOVEL P27_Pri_B Untested WXS Illumina HiSeq 146 103 579 0 ENST00000377294.2:c.1326G>C p.Arg442Ser p.R442S ENST00000377294 NM_019110.3 442 agG/agC 0 -ZNF365 UCSF GRCh37 10 64416220 64416220 + synonymous_variant Silent SNP C C T 1000g2010nov_all_0.011,1000g2011may_all_0.0406,snp132_rs76895268 P27_Pri_B Untested WXS Illumina HiSeq 49 6 71 0 ENST00000410046.3:c.1194C>T p.Asp398= p.D398= ENST00000410046 NM_199451.2 398 gaC/gaT 0 -ZNF674 UCSF GRCh37 X 46360197 46360197 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 28 4 47 0 ENST00000523374.1:c.827G>T p.Gly276Val p.G276V ENST00000523374 NM_001039891.2 276 gGg/gTg 0 -ZSWIM5 UCSF GRCh37 1 45516885 45516885 + synonymous_variant Silent SNP T T C NOVEL P27_Pri_B Untested WXS Illumina HiSeq 35 33 186 0 ENST00000359600.5:c.1293A>G p.Lys431= p.K431= ENST00000359600 NM_020883.1 431 aaA/aaG 0 -ZYX UCSF GRCh37 7 143079428 143079428 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Pri_B Untested WXS Illumina HiSeq 34 4 89 0 ENST00000322764.5:c.296C>A p.Pro99Gln p.P99Q ENST00000322764 NM_003461.4 99 cCg/cAg 0 -AKR1D1 UCSF GRCh37 7 137791441 137791441 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 166 85 221 0 ENST00000242375.3:c.667G>C p.Gly223Arg p.G223R ENST00000242375 NM_005989.3 223 Ggg/Cgg 0 -AMIGO1 UCSF GRCh37 1 110051079 110051079 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 105 86 207 0 ENST00000369864.4:c.456C>T p.Cys152= p.C152= ENST00000369864 152 tgC/tgT 0 -ATP13A2 UCSF GRCh37 1 17316753 17316753 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 58 9 77 0 ENST00000326735.8:c.2281G>T p.Ala761Ser p.A761S ENST00000326735 761 Gcc/Tcc 0 -ATRX UCSF GRCh37 X 76938099 76938100 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 120 0 ENST00000373344.5:c.2648_2649del p.Gln883ArgfsTer13 p.Q883Rfs*13 ENST00000373344 NM_000489.3 883 cAA/c 0 -CDH2 UCSF GRCh37 18 25727679 25727679 + missense_variant Missense_Mutation SNP C C G NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 54 28 81 0 ENST00000269141.3:c.130G>C p.Val44Leu p.V44L ENST00000269141 NM_001792.3 44 Gtc/Ctc 0 -CDKN2A UCSF GRCh37 9 21970993 21970993 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 8 0 ENST00000304494.5:c.365del p.Gly122AlafsTer24 p.G122Afs*24 ENST00000304494 NM_000077.4 122 gGc/gc 0 -CNTNAP2 UCSF GRCh37 7 147844772 147844772 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 52 24 57 0 ENST00000361727.3:c.2744G>A p.Arg915His p.R915H ENST00000361727 NM_014141.5 915 cGc/cAc 0 -CTNMT-ND2 UCSF GRCh37 5 11364832 11364832 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 29 20 49 0 ENST00000304623.8:c.1348A>G p.Thr450Ala p.T450A ENST00000304623 NM_001332.2 450 Acc/Gcc 0 -DHX34 UCSF GRCh37 19 47876868 47876868 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 30 16 43 0 ENST00000328771.4:c.1975C>T p.Arg659Trp p.R659W ENST00000328771 NM_014681.5 659 Cgg/Tgg 0 -DMWD UCSF GRCh37 19 46287928 46287928 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 74 46 142 0 ENST00000270223.6:c.1948C>T p.Pro650Ser p.P650S ENST00000270223 NM_004943.1 650 Ccc/Tcc 0 -DNAJC11 UCSF GRCh37 1 6700009 6700009 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 23 17 63 0 ENST00000377577.5:c.1206C>T p.Ala402= p.A402= ENST00000377577 NM_018198.3 402 gcC/gcT 0 -DUOXA2 UCSF GRCh37 15 45408389 45408389 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 168 101 307 0 ENST00000323030.5:c.273C>T p.Ser91= p.S91= ENST00000323030 NM_207581.3 91 agC/agT 0 -EYA2 UCSF GRCh37 20 45771717 45771717 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 104 78 170 0 ENST00000327619.5:c.908G>A p.Arg303His p.R303H ENST00000327619 NM_005244.4 303 cGc/cAc 0 -FLG UCSF GRCh37 1 152284325 152284325 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 24 16 47 0 ENST00000368799.1:c.3037T>C p.Ser1013Pro p.S1013P ENST00000368799 NM_002016.1 1013 Tcc/Ccc 0 -FMN2 UCSF GRCh37 1 240255560 240255560 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 60 48 85 0 ENST00000319653.9:c.151G>A p.Gly51Arg p.G51R ENST00000319653 NM_020066.4 51 Ggg/Agg 0 -GNE UCSF GRCh37 9 36217503 36217503 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 172 69 188 0 ENST00000396594.3:c.2121C>G p.Ile707Met p.I707M ENST00000396594 NM_001128227.2 707 atC/atG 0 -GNE UCSF GRCh37 9 36217533 36217533 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 166 61 171 0 ENST00000396594.3:c.2091C>G p.Ile697Met p.I697M ENST00000396594 NM_001128227.2 697 atC/atG 0 -GPR44 UCSF GRCh37 11 60620792 60620792 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 38 22 77 0 ENST00000332539.4:c.404G>A p.Arg135Gln p.R135Q ENST00000332539 NM_004778.2 135 cGg/cAg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 12 11 35 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL11 UCSF GRCh37 19 55879672 55879672 + missense_variant Missense_Mutation SNP C C T 1000g2010nov_all_0.010,1000g2011may_all_0.0145,snp132_rs4252548 P27_Rec1_A Untested WXS Illumina HiSeq 15 12 31 0 ENST00000264563.2:c.335G>A p.Arg112His p.R112H ENST00000264563 NM_000641.3 112 cGc/cAc 0 -KATNB1 UCSF GRCh37 16 57787370 57787370 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 54 45 116 0 ENST00000379661.3:c.1116C>T p.Ser372= p.S372= ENST00000379661 NM_005886.2 372 tcC/tcT 0 -KRT12 UCSF GRCh37 17 39023245 39023246 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 129 0 ENST00000251643.4:c.194dup p.Ser66Ter p.S66* ENST00000251643 NM_000223.3 65 tct/tCct 0 -MUC6 UCSF GRCh37 11 1031684 1031684 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 83 48 158 0 ENST00000421673.2:c.406G>A p.Gly136Ser p.G136S ENST00000421673 NM_005961.2 136 Ggc/Agc 0 -MYO18A UCSF GRCh37 17 27437604 27437604 + synonymous_variant Silent SNP G G T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 57 8 53 0 ENST00000527372.1:c.2937C>A p.Gly979= p.G979= ENST00000527372 NM_078471.3 979 ggC/ggA 0 -MYO18B UCSF GRCh37 22 26159269 26159269 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 108 72 213 0 ENST00000335473.7:c.111C>T p.Phe37= p.F37= ENST00000335473 NM_032608.5 37 ttC/ttT 0 -NBPF1 UCSF GRCh37 1 16893813 16893813 + synonymous_variant Silent SNP A A G snp132_rs58611269 P27_Rec1_A Untested WXS Illumina HiSeq 15 3 19 0 ENST00000430580.2:c.2700T>C p.Pro900= p.P900= ENST00000430580 NM_017940.4 900 ccT/ccC 0 -OR10AG1 UCSF GRCh37 11 55735772 55735772 + missense_variant Missense_Mutation SNP A A T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 86 60 166 1 ENST00000312345.2:c.168T>A p.Asn56Lys p.N56K ENST00000312345 NM_001005491.1 56 aaT/aaA 0 -PRAMEF20 UCSF GRCh37 1 13743058 13743058 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.039,1000g2011may_all_0.0457,snp132_rs77164784 P27_Rec1_A Untested WXS Illumina HiSeq 15 3 17 0 ENST00000316412.5:c.247G>A p.Asp83Asn p.D83N ENST00000316412 NM_001099852.1 83 Gat/Aat 0 -PRB1 UCSF GRCh37 12 11506350 11506350 + intron_variant Intron SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 11 3 14 0 ENST00000500254.2:c.314-26G>A *105* ENST00000500254 NM_199353.2 0 -PRF1 UCSF GRCh37 10 72358862 72358862 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 48 39 107 0 ENST00000441259.1:c.615C>T p.Asn205= p.N205= ENST00000441259 NM_005041.4 205 aaC/aaT 0 -PRSS50 UCSF GRCh37 3 46753929 46753929 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 22 17 43 0 ENST00000460241.1:c.965G>T p.Trp322Leu p.W322L ENST00000460241 322 tGg/tTg 0 -PSKH2 UCSF GRCh37 8 87060758 87060758 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 80 51 160 0 ENST00000276616.2:c.1091A>G p.Lys364Arg p.K364R ENST00000276616 NM_033126.1 364 aAa/aGa 0 -SCN2A UCSF GRCh37 2 166237141 166237141 + missense_variant Missense_Mutation SNP T T G NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 105 40 138 0 ENST00000357398.3:c.4348T>G p.Tyr1450Asp p.Y1450D ENST00000357398 1450 Tat/Gat 0 -SEMA4D UCSF GRCh37 9 92008491 92008491 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 28 32 76 0 ENST00000450295.1:c.494C>T p.Thr165Ile p.T165I ENST00000450295 165 aCa/aTa 0 -SLCO6A1 UCSF GRCh37 5 101735273 101735273 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 40 27 63 0 ENST00000506729.1:c.1800C>T p.Val600= p.V600= ENST00000506729 600 gtC/gtT 0 -SMARCA4 UCSF GRCh37 19 11141559 11141559 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Rec1_A somatic WXS Sanger Illumina HiSeq 17 5 36 0 ENST00000344626.4:c.3536A>G p.Asn1179Ser p.N1179S ENST00000344626 NM_003072.3 1179 aAt/aGt 0 -SPHKAP UCSF GRCh37 2 228883637 228883637 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 105 89 199 0 ENST00000392056.3:c.1933A>G p.Arg645Gly p.R645G ENST00000392056 NM_001142644.1 645 Agg/Ggg 0 -ST18 UCSF GRCh37 8 53084929 53084929 + synonymous_variant Silent SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 140 72 230 1 ENST00000276480.7:c.492A>G p.Ala164= p.A164= ENST00000276480 NM_014682.2 164 gcA/gcG 0 -STAT4 UCSF GRCh37 2 191937835 191937835 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 203 139 466 0 ENST00000392320.2:c.454A>G p.Asn152Asp p.N152D ENST00000392320 NM_003151.3 152 Aac/Gac 0 -STYK1 UCSF GRCh37 12 10780287 10780287 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 184 112 300 0 ENST00000075503.3:c.670A>G p.Thr224Ala p.T224A ENST00000075503 NM_018423.2 224 Aca/Gca 0 -TH1L UCSF GRCh37 20 57569284 57569284 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 96 54 169 0 ENST00000602795.1:c.1755G>A p.Thr585= p.T585= ENST00000602795 NM_198976.2 585 acG/acA 0 -TMEM95 UCSF GRCh37 17 7258580 7258580 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 56 41 118 0 ENST00000330767.4:c.57C>T p.Phe19= p.F19= ENST00000330767 NM_198154.1 19 ttC/ttT 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 12 56 71 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -WDR62 UCSF GRCh37 19 36585008 36585008 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 73 58 166 0 ENST00000401500.2:c.2409G>A p.Glu803= p.E803= ENST00000401500 NM_001083961.1 803 gaG/gaA 0 -XKRX UCSF GRCh37 X 100169574 100169574 + missense_variant Missense_Mutation SNP T T G NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 70 186 249 0 ENST00000372956.2:c.1103A>C p.Lys368Thr p.K368T ENST00000372956 368 aAg/aCg 0 -ZKSCAN4 UCSF GRCh37 6 28213206 28213206 + missense_variant Missense_Mutation SNP C C G NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 316 209 579 0 ENST00000377294.2:c.1326G>C p.Arg442Ser p.R442S ENST00000377294 NM_019110.3 442 agG/agC 0 -ZSWIM5 UCSF GRCh37 1 45516885 45516885 + synonymous_variant Silent SNP T T C NOVEL P27_Rec1_A Untested WXS Illumina HiSeq 74 41 186 0 ENST00000359600.5:c.1293A>G p.Lys431= p.K431= ENST00000359600 NM_020883.1 431 aaA/aaG 0 -AKR1D1 UCSF GRCh37 7 137791441 137791441 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 168 58 221 0 ENST00000242375.3:c.667G>C p.Gly223Arg p.G223R ENST00000242375 NM_005989.3 223 Ggg/Cgg 0 -AMIGO1 UCSF GRCh37 1 110051079 110051079 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 86 41 207 0 ENST00000369864.4:c.456C>T p.Cys152= p.C152= ENST00000369864 152 tgC/tgT 0 -ATRX UCSF GRCh37 X 76938099 76938100 + frameshift_variant Frame_Shift_Del DEL TT TT - NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 87 0 ENST00000373344.5:c.2648_2649del p.Gln883ArgfsTer13 p.Q883Rfs*13 ENST00000373344 NM_000489.3 883 cAA/c 0 -CDH2 UCSF GRCh37 18 25727679 25727679 + missense_variant Missense_Mutation SNP C C G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 57 16 81 0 ENST00000269141.3:c.130G>C p.Val44Leu p.V44L ENST00000269141 NM_001792.3 44 Gtc/Ctc 0 -CDKN2A UCSF GRCh37 9 21970993 21970993 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 23 0 ENST00000304494.5:c.365del p.Gly122AlafsTer24 p.G122Afs*24 ENST00000304494 NM_000077.4 122 gGc/gc 0 -CNTNAP2 UCSF GRCh37 7 147844772 147844772 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 36 20 57 0 ENST00000361727.3:c.2744G>A p.Arg915His p.R915H ENST00000361727 NM_014141.5 915 cGc/cAc 0 -CTNMT-ND2 UCSF GRCh37 5 11364832 11364832 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 14 15 49 0 ENST00000304623.8:c.1348A>G p.Thr450Ala p.T450A ENST00000304623 NM_001332.2 450 Acc/Gcc 0 -DHX34 UCSF GRCh37 19 47876868 47876868 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 24 13 43 0 ENST00000328771.4:c.1975C>T p.Arg659Trp p.R659W ENST00000328771 NM_014681.5 659 Cgg/Tgg 0 -DMWD UCSF GRCh37 19 46287928 46287928 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 58 40 142 0 ENST00000270223.6:c.1948C>T p.Pro650Ser p.P650S ENST00000270223 NM_004943.1 650 Ccc/Tcc 0 -DNAJC11 UCSF GRCh37 1 6700009 6700009 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 29 21 63 0 ENST00000377577.5:c.1206C>T p.Ala402= p.A402= ENST00000377577 NM_018198.3 402 gcC/gcT 0 -DUOXA2 UCSF GRCh37 15 45408389 45408389 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 101 49 307 0 ENST00000323030.5:c.273C>T p.Ser91= p.S91= ENST00000323030 NM_207581.3 91 agC/agT 0 -EYA2 UCSF GRCh37 20 45771717 45771717 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 121 37 170 0 ENST00000327619.5:c.908G>A p.Arg303His p.R303H ENST00000327619 NM_005244.4 303 cGc/cAc 0 -FLG UCSF GRCh37 1 152284325 152284325 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 19 15 47 0 ENST00000368799.1:c.3037T>C p.Ser1013Pro p.S1013P ENST00000368799 NM_002016.1 1013 Tcc/Ccc 0 -FMN2 UCSF GRCh37 1 240255560 240255560 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 34 24 85 0 ENST00000319653.9:c.151G>A p.Gly51Arg p.G51R ENST00000319653 NM_020066.4 51 Ggg/Agg 0 -GNE UCSF GRCh37 9 36217503 36217503 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 158 38 188 0 ENST00000396594.3:c.2121C>G p.Ile707Met p.I707M ENST00000396594 NM_001128227.2 707 atC/atG 0 -GNE UCSF GRCh37 9 36217533 36217533 + missense_variant Missense_Mutation SNP G G C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 154 35 171 0 ENST00000396594.3:c.2091C>G p.Ile697Met p.I697M ENST00000396594 NM_001128227.2 697 atC/atG 0 -GPR44 UCSF GRCh37 11 60620792 60620792 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 31 11 77 0 ENST00000332539.4:c.404G>A p.Arg135Gln p.R135Q ENST00000332539 NM_004778.2 135 cGg/cAg 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 9 20 35 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KATNB1 UCSF GRCh37 16 57787370 57787370 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 42 20 116 0 ENST00000379661.3:c.1116C>T p.Ser372= p.S372= ENST00000379661 NM_005886.2 372 tcC/tcT 0 -KRT12 UCSF GRCh37 17 39023245 39023246 + frameshift_variant Frame_Shift_Ins INS - - G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 70 0 ENST00000251643.4:c.194dup p.Ser66Ter p.S66* ENST00000251643 NM_000223.3 65 tct/tCct 0 -MUC6 UCSF GRCh37 11 1031684 1031684 + missense_variant Missense_Mutation SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 60 24 158 0 ENST00000421673.2:c.406G>A p.Gly136Ser p.G136S ENST00000421673 NM_005961.2 136 Ggc/Agc 0 -MYO18B UCSF GRCh37 22 26159269 26159269 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 67 46 213 0 ENST00000335473.7:c.111C>T p.Phe37= p.F37= ENST00000335473 NM_032608.5 37 ttC/ttT 0 -OR10AG1 UCSF GRCh37 11 55735772 55735772 + missense_variant Missense_Mutation SNP A A T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 78 65 166 1 ENST00000312345.2:c.168T>A p.Asn56Lys p.N56K ENST00000312345 NM_001005491.1 56 aaT/aaA 0 -PRF1 UCSF GRCh37 10 72358862 72358862 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 35 20 107 0 ENST00000441259.1:c.615C>T p.Asn205= p.N205= ENST00000441259 NM_005041.4 205 aaC/aaT 0 -PRSS50 UCSF GRCh37 3 46753929 46753929 + missense_variant Missense_Mutation SNP C C A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 12 14 43 0 ENST00000460241.1:c.965G>T p.Trp322Leu p.W322L ENST00000460241 322 tGg/tTg 0 -PSKH2 UCSF GRCh37 8 87060758 87060758 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 62 35 160 0 ENST00000276616.2:c.1091A>G p.Lys364Arg p.K364R ENST00000276616 NM_033126.1 364 aAa/aGa 0 -SCN2A UCSF GRCh37 2 166237141 166237141 + missense_variant Missense_Mutation SNP T T G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 95 34 138 0 ENST00000357398.3:c.4348T>G p.Tyr1450Asp p.Y1450D ENST00000357398 1450 Tat/Gat 0 -SEMA4D UCSF GRCh37 9 92008491 92008491 + missense_variant Missense_Mutation SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 31 28 76 0 ENST00000450295.1:c.494C>T p.Thr165Ile p.T165I ENST00000450295 165 aCa/aTa 0 -SLCO6A1 UCSF GRCh37 5 101735273 101735273 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 45 26 63 0 ENST00000506729.1:c.1800C>T p.Val600= p.V600= ENST00000506729 600 gtC/gtT 0 -SMARCA4 UCSF GRCh37 19 11141559 11141559 + missense_variant Missense_Mutation SNP A A G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 13 9 36 0 ENST00000344626.4:c.3536A>G p.Asn1179Ser p.N1179S ENST00000344626 NM_003072.3 1179 aAt/aGt 0 -SPHKAP UCSF GRCh37 2 228883637 228883637 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 122 66 199 0 ENST00000392056.3:c.1933A>G p.Arg645Gly p.R645G ENST00000392056 NM_001142644.1 645 Agg/Ggg 0 -ST18 UCSF GRCh37 8 53084929 53084929 + synonymous_variant Silent SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 131 48 230 1 ENST00000276480.7:c.492A>G p.Ala164= p.A164= ENST00000276480 NM_014682.2 164 gcA/gcG 0 -STAT4 UCSF GRCh37 2 191937835 191937835 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 212 86 466 0 ENST00000392320.2:c.454A>G p.Asn152Asp p.N152D ENST00000392320 NM_003151.3 152 Aac/Gac 0 -STYK1 UCSF GRCh37 12 10780287 10780287 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 165 68 300 0 ENST00000075503.3:c.670A>G p.Thr224Ala p.T224A ENST00000075503 NM_018423.2 224 Aca/Gca 0 -TH1L UCSF GRCh37 20 57569284 57569284 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 62 20 169 0 ENST00000602795.1:c.1755G>A p.Thr585= p.T585= ENST00000602795 NM_198976.2 585 acG/acA 0 -TMEM95 UCSF GRCh37 17 7258580 7258580 + synonymous_variant Silent SNP C C T NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 44 29 118 0 ENST00000330767.4:c.57C>T p.Phe19= p.F19= ENST00000330767 NM_198154.1 19 ttC/ttT 0 -TP53 UCSF GRCh37 17 7578190 7578190 + missense_variant Missense_Mutation SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 5 29 71 0 ENST00000269305.4:c.659A>G p.Tyr220Cys p.Y220C ENST00000269305 NM_001126112.2 220 tAt/tGt 0 -WDR62 UCSF GRCh37 19 36585008 36585008 + synonymous_variant Silent SNP G G A NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 83 57 166 0 ENST00000401500.2:c.2409G>A p.Glu803= p.E803= ENST00000401500 NM_001083961.1 803 gaG/gaA 0 -XKRX UCSF GRCh37 X 100169574 100169574 + missense_variant Missense_Mutation SNP T T G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 68 136 249 0 ENST00000372956.2:c.1103A>C p.Lys368Thr p.K368T ENST00000372956 368 aAg/aCg 0 -ZKSCAN4 UCSF GRCh37 6 28213206 28213206 + missense_variant Missense_Mutation SNP C C G NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 218 149 579 0 ENST00000377294.2:c.1326G>C p.Arg442Ser p.R442S ENST00000377294 NM_019110.3 442 agG/agC 0 -ZSWIM5 UCSF GRCh37 1 45516885 45516885 + synonymous_variant Silent SNP T T C NOVEL P27_Rec1_B Untested WXS Illumina HiSeq 42 48 186 0 ENST00000359600.5:c.1293A>G p.Lys431= p.K431= ENST00000359600 NM_020883.1 431 aaA/aaG 0 -AMPD1 UCSF GRCh37 1 115222309 115222309 + missense_variant Missense_Mutation SNP C C T NOVEL P28_Pri Untested WXS Illumina HiSeq 53 37 81 0 ENST00000520113.2:c.887G>A p.Arg296His p.R296H ENST00000520113 296 cGc/cAc 0 -AMZ2 UCSF GRCh37 17 66250631 66250631 + missense_variant Missense_Mutation SNP T T C NOVEL P28_Pri Untested WXS Illumina HiSeq 114 47 171 0 ENST00000359904.3:c.673T>C p.Ser225Pro p.S225P ENST00000359904 NM_016627.4 225 Tct/Cct 0 -ARSI UCSF GRCh37 5 149677736 149677736 + missense_variant Missense_Mutation SNP G G A NOVEL P28_Pri Untested WXS Illumina HiSeq 97 60 145 0 ENST00000328668.7:c.751C>T p.Arg251Cys p.R251C ENST00000328668 NM_001012301.2 251 Cgc/Tgc 0 -ATRX UCSF GRCh37 X 76937611 76937615 + frameshift_variant Frame_Shift_Del DEL CTTTT CTTTT - NOVEL P28_Pri Untested WXS Illumina HiSeq 180 0 ENST00000373344.5:c.3133_3137delAAAAG p.Lys1045Ter p.K1045* ENST00000373344 NM_000489.3 1045 AAAAGt/t 0 -C20orf96(NM_080571:exon2:c.17+2->TA) UCSF GRCh37 20 271226 271227 + splice_region_variant,intron_variant Splice_Region INS - - TA NOVEL P28_Pri Untested WXS Illumina HiSeq 7 0 ENST00000360321.2:c.20+6_20+7dup p.X7_splice ENST00000360321 NM_153269.2 0 -CYB5D2 UCSF GRCh37 17 4053185 4053185 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P28_Pri Untested WXS Illumina HiSeq 30 10 50 0 ENST00000301391.3:c.251G>A p.Gly84Asp p.G84D ENST00000301391 NM_144611.3 84 gGc/gAc 0 -FLG UCSF GRCh37 1 152284806 152284806 + synonymous_variant Silent SNP C C T snp132_rs71625190 P28_Pri Untested WXS Illumina HiSeq 16 7 15 1 ENST00000368799.1:c.2556G>A p.Arg852= p.R852= ENST00000368799 NM_002016.1 852 agG/agA 0 -FZR1 UCSF GRCh37 19 3533340 3533340 + missense_variant Missense_Mutation SNP C C G NOVEL P28_Pri Untested WXS Illumina HiSeq 83 12 72 0 ENST00000395095.3:c.1291C>G p.Pro431Ala p.P431A ENST00000395095 NM_001136198.1 431 Ccc/Gcc 0 -GPR98 UCSF GRCh37 5 90085648 90085648 + missense_variant Missense_Mutation SNP G G A NOVEL P28_Pri Untested WXS Illumina HiSeq 29 18 41 0 ENST00000405460.2:c.14023G>A p.Gly4675Ser p.G4675S ENST00000405460 NM_032119.3 4675 Ggc/Agc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P28_Pri Untested WXS Illumina HiSeq 13 13 24 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -KRTAP4-9 UCSF GRCh37 17 39261693 39261693 + missense_variant Missense_Mutation SNP A A T 1000g2010nov_all_0.281,snp132_rs113059833 P28_Pri Untested WXS Illumina HiSeq 32 5 41 0 ENST00000391415.1:c.53A>T p.Asp18Val p.D18V ENST00000391415 NM_001146041.1 18 gAc/gTc 0 -LOXHD1 UCSF GRCh37 18 44152078 44152078 + missense_variant Missense_Mutation SNP A A G NOVEL P28_Pri Untested WXS Illumina HiSeq 107 64 165 0 ENST00000398722.4:c.1184T>C p.Leu395Pro p.L395P ENST00000398722 395 cTa/cCa 0 -MICAL2 UCSF GRCh37 11 12263921 12263921 + missense_variant Missense_Mutation SNP C C T NOVEL P28_Pri Untested WXS Illumina HiSeq 99 56 138 0 ENST00000256194.4:c.2498C>T p.Ala833Val p.A833V ENST00000256194 NM_014632.2 833 gCg/gTg 0 -MLL3 UCSF GRCh37 7 151945313 151945313 + synonymous_variant Silent SNP A A G NOVEL P28_Pri Untested WXS Illumina HiSeq 22 3 22 1 ENST00000262189.6:c.2206T>C p.Leu736= p.L736= ENST00000262189 NM_170606.2 736 Ttg/Ctg 0 -PKP2 UCSF GRCh37 12 33031211 33031211 + synonymous_variant Silent SNP C C T NOVEL P28_Pri Untested WXS Illumina HiSeq 76 63 153 0 ENST00000070846.6:c.603G>A p.Gly201= p.G201= ENST00000070846 NM_004572.3 201 ggG/ggA 0 -RAPGEF4 UCSF GRCh37 2 173679042 173679042 + synonymous_variant Silent SNP G G A NOVEL P28_Pri Untested WXS Illumina HiSeq 204 147 299 1 ENST00000397081.3:c.333G>A p.Thr111= p.T111= ENST00000397081 NM_007023.3 111 acG/acA 0 -SLC18A2 UCSF GRCh37 10 119026521 119026521 + missense_variant Missense_Mutation SNP T T C NOVEL P28_Pri Untested WXS Illumina HiSeq 117 75 190 0 ENST00000298472.5:c.1097T>C p.Ile366Thr p.I366T ENST00000298472 NM_003054.4 366 aTa/aCa 0 -AFG2A UCSF GRCh37 4 123848842 123848842 + missense_variant Missense_Mutation SNP A A T NOVEL P28_Pri Untested WXS Illumina HiSeq 168 123 296 0 ENST00000274008.4:c.217A>T p.Asn73Tyr p.N73Y ENST00000274008 NM_145207.2 73 Aac/Tac 0 -THAP5 UCSF GRCh37 7 108205526 108205526 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P28_Pri Untested WXS Illumina HiSeq 7 0 ENST00000415914.3:c.297delA p.Lys99AsnfsTer25 p.K99Nfs*25 ENST00000415914 NM_001130475.1 99 aaA/aa 0 -TP53 UCSF GRCh37 17 7578541 7578541 + missense_variant Missense_Mutation SNP A A C NOVEL P28_Pri Untested WXS Illumina HiSeq 11 63 74 0 ENST00000269305.4:c.389T>G p.Leu130Arg p.L130R ENST00000269305 NM_001126112.2 130 cTc/cGc 0 -AMPD1 UCSF GRCh37 1 115222309 115222309 + missense_variant Missense_Mutation SNP C C T NOVEL P28_Rec Untested WXS Illumina HiSeq 48 36 81 0 ENST00000520113.2:c.887G>A p.Arg296His p.R296H ENST00000520113 296 cGc/cAc 0 -AMZ2 UCSF GRCh37 17 66250631 66250631 + missense_variant Missense_Mutation SNP T T C NOVEL P28_Rec Untested WXS Illumina HiSeq 148 76 171 0 ENST00000359904.3:c.673T>C p.Ser225Pro p.S225P ENST00000359904 NM_016627.4 225 Tct/Cct 0 -ARSI UCSF GRCh37 5 149677736 149677736 + missense_variant Missense_Mutation SNP G G A NOVEL P28_Rec Untested WXS Illumina HiSeq 81 76 145 0 ENST00000328668.7:c.751C>T p.Arg251Cys p.R251C ENST00000328668 NM_001012301.2 251 Cgc/Tgc 0 -ATRX UCSF GRCh37 X 76937611 76937615 + frameshift_variant Frame_Shift_Del DEL CTTTT CTTTT - NOVEL P28_Rec Untested WXS Illumina HiSeq 198 0 ENST00000373344.5:c.3133_3137delAAAAG p.Lys1045Ter p.K1045* ENST00000373344 NM_000489.3 1045 AAAAGt/t 0 -CPNE2 UCSF GRCh37 16 57180218 57180218 + synonymous_variant Silent SNP T T C NOVEL P28_Rec Untested WXS Illumina HiSeq 254 29 189 0 ENST00000535318.2:c.1524T>C p.Phe508= p.F508= ENST00000535318 508 ttT/ttC 0 -CYB5D2 UCSF GRCh37 17 4053185 4053185 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P28_Rec Untested WXS Illumina HiSeq 28 27 50 0 ENST00000301391.3:c.251G>A p.Gly84Asp p.G84D ENST00000301391 NM_144611.3 84 gGc/gAc 0 -DENND2D UCSF GRCh37 1 111741364 111741364 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P28_Rec Untested WXS Illumina HiSeq 85 10 87 0 ENST00000357640.4:c.244C>T p.Arg82Trp p.R82W ENST00000357640 NM_024901.4 82 Cgg/Tgg 0 -DNMT1 UCSF GRCh37 19 10262139 10262139 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P28_Rec Untested WXS Illumina HiSeq 8 0 ENST00000340748.4:c.2152delA p.Met718CysfsTer59 p.M718Cfs*59 ENST00000340748 718 Atg/tg 0 -FZR1 UCSF GRCh37 19 3533340 3533340 + missense_variant Missense_Mutation SNP C C G NOVEL P28_Rec Untested WXS Illumina HiSeq 107 30 72 0 ENST00000395095.3:c.1291C>G p.Pro431Ala p.P431A ENST00000395095 NM_001136198.1 431 Ccc/Gcc 0 -GCN1L1 UCSF GRCh37 12 120612953 120612984 + splice_donor_variant,coding_sequence_variant,intron_variant Splice_Site DEL GAAATCCTATACCTGAGAGGACGCTCATCTTC GAAATCCTATACCTGAGAGGACGCTCATCTTC AAATCCTATACCTGGGAGGACGCTCATCTTT NOVEL P28_Rec Untested WXS Illumina HiSeq 7 0 ENST00000300648.6:c.1074_1093+12delinsAAAGATGAGCGTCCTCCCAGGTATAGGATTT p.X358_splice ENST00000300648 NM_006836.1 358 0 -GPR98 UCSF GRCh37 5 90085648 90085648 + missense_variant Missense_Mutation SNP G G A NOVEL P28_Rec Untested WXS Illumina HiSeq 31 18 41 0 ENST00000405460.2:c.14023G>A p.Gly4675Ser p.G4675S ENST00000405460 NM_032119.3 4675 Ggc/Agc 0 -HNRNPCL1 UCSF GRCh37 1 12907762 12907762 + synonymous_variant Silent SNP T T C 1000g2010nov_all_0.028,1000g2011may_all_0.0727,snp132_rs57026768 P28_Rec Untested WXS Illumina HiSeq 16 4 23 1 ENST00000317869.6:c.381A>G p.Pro127= p.P127= ENST00000317869 NM_001013631.1 127 ccA/ccG 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P28_Rec Untested WXS Illumina HiSeq 8 16 24 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -LOXHD1 UCSF GRCh37 18 44152078 44152078 + missense_variant Missense_Mutation SNP A A G NOVEL P28_Rec Untested WXS Illumina HiSeq 96 72 165 0 ENST00000398722.4:c.1184T>C p.Leu395Pro p.L395P ENST00000398722 395 cTa/cCa 0 -MCM7 UCSF GRCh37 7 99697025 99697041 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL ACCTAAAGGAGAAGAAC ACCTAAAGGAGAAGAAC CCCAAAAGGAAAAAAA NOVEL P28_Rec Untested WXS Illumina HiSeq 6 0 ENST00000303887.5:c.277-15_278delinsTTTTTTTCCTTTTGGG p.X93_splice ENST00000303887 NM_001278595.1 0 -MICAL2 UCSF GRCh37 11 12263921 12263921 + missense_variant Missense_Mutation SNP C C T NOVEL P28_Rec Untested WXS Illumina HiSeq 98 51 138 0 ENST00000256194.4:c.2498C>T p.Ala833Val p.A833V ENST00000256194 NM_014632.2 833 gCg/gTg 0 -NMT2 UCSF GRCh37 10 15172208 15172208 + missense_variant Missense_Mutation SNP G G T NOVEL P28_Rec Untested WXS Illumina HiSeq 17 3 19 0 ENST00000378165.4:c.823C>A p.Leu275Met p.L275M ENST00000378165 NM_004808.2 275 Ctg/Atg 0 -PKP2 UCSF GRCh37 12 33031211 33031211 + synonymous_variant Silent SNP C C T NOVEL P28_Rec Untested WXS Illumina HiSeq 92 63 153 0 ENST00000070846.6:c.603G>A p.Gly201= p.G201= ENST00000070846 NM_004572.3 201 ggG/ggA 0 -POLA1 UCSF GRCh37 X 24833131 24833131 + missense_variant Missense_Mutation SNP G G T NOVEL P28_Rec Untested WXS Illumina HiSeq 21 3 23 0 ENST00000379059.3:c.3314G>T p.Arg1105Leu p.R1105L ENST00000379059 NM_016937.3 1105 cGg/cTg 0 -POLR3B UCSF GRCh37 12 106820973 106820987 + splice_acceptor_variant,coding_sequence_variant Splice_Site INS AGCTTTTATCTCTTC AGCTTTTATCTCTTC TAGCTTTTTTCTTTTT NOVEL P28_Rec Untested WXS Illumina HiSeq 6 0 ENST00000228347.4:c.1102-2_1114delinsTAGCTTTTTTCTTTTT p.X368_splice ENST00000228347 NM_018082.5 0 -RAPGEF4 UCSF GRCh37 2 173679042 173679042 + synonymous_variant Silent SNP G G A NOVEL P28_Rec Untested WXS Illumina HiSeq 202 158 299 1 ENST00000397081.3:c.333G>A p.Thr111= p.T111= ENST00000397081 NM_007023.3 111 acG/acA 0 -RHPN1 UCSF GRCh37 8 144460938 144460938 + synonymous_variant Silent SNP C C T NOVEL P28_Rec Untested WXS Illumina HiSeq 228 381 370 0 ENST00000289013.6:c.532C>T p.Leu178= p.L178= ENST00000289013 NM_052924.2 178 Ctg/Ttg 0 -RPL18 UCSF GRCh37 19 49119149 49119149 + missense_variant Missense_Mutation SNP G G T NOVEL P28_Rec Untested WXS Illumina HiSeq 24 3 42 0 ENST00000549920.1:c.476C>A p.Pro159Gln p.P159Q ENST00000549920 NM_000979.3 159 cCg/cAg 0 -SDK1 UCSF GRCh37 7 4304761 4304761 + synonymous_variant Silent SNP G G T NOVEL P28_Rec Untested WXS Illumina HiSeq 25 3 45 0 ENST00000404826.2:c.6387G>T p.Thr2129= p.T2129= ENST00000404826 NM_152744.3 2129 acG/acT 0 -SERPINB3 UCSF GRCh37 18 61326651 61326651 + synonymous_variant Silent SNP T T C NOVEL P28_Rec Untested WXS Illumina HiSeq 26 9 50 0 ENST00000283752.5:c.333A>G p.Lys111= p.K111= ENST00000283752 NM_006919.2 111 aaA/aaG 0 -SERPINI1 UCSF GRCh37 3 167508159 167508159 + splice_acceptor_variant Splice_Site SNP G G T NOVEL P28_Rec Untested WXS Illumina HiSeq 35 4 51 0 ENST00000295777.5:c.251-1G>T p.X84_splice ENST00000295777 NM_005025.4 0 -SLC18A2 UCSF GRCh37 10 119026521 119026521 + missense_variant Missense_Mutation SNP T T C NOVEL P28_Rec Untested WXS Illumina HiSeq 91 86 190 0 ENST00000298472.5:c.1097T>C p.Ile366Thr p.I366T ENST00000298472 NM_003054.4 366 aTa/aCa 0 -AFG2A UCSF GRCh37 4 123848842 123848842 + missense_variant Missense_Mutation SNP A A T NOVEL P28_Rec Untested WXS Illumina HiSeq 180 146 296 0 ENST00000274008.4:c.217A>T p.Asn73Tyr p.N73Y ENST00000274008 NM_145207.2 73 Aac/Tac 0 -TCEAL3 UCSF GRCh37 X 102864442 102864442 + synonymous_variant Silent SNP A A G 1000g2010nov_all_0.02464 P28_Rec Untested WXS Illumina HiSeq 12 5 12 0 ENST00000372628.1:c.450A>G p.Gln150= p.Q150= ENST00000372628 150 caA/caG 0 -TP53 UCSF GRCh37 17 7578541 7578541 + missense_variant Missense_Mutation SNP A A C NOVEL P28_Rec Untested WXS Illumina HiSeq 7 94 74 0 ENST00000269305.4:c.389T>G p.Leu130Arg p.L130R ENST00000269305 NM_001126112.2 130 cTc/cGc 0 -ADNP UCSF GRCh37 20 49508204 49508204 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P29_Pri Untested WXS Illumina HiSeq 7 0 ENST00000396029.3:c.3047delA p.Lys1016ArgfsTer11 p.K1016Rfs*11 ENST00000396029 NM_015339.2 1016 aAg/ag 0 -AP2A1 UCSF GRCh37 19 50306222 50306222 + missense_variant Missense_Mutation SNP A A G NOVEL P29_Pri Untested WXS Illumina HiSeq 13 21 25 0 ENST00000359032.5:c.2197A>G p.Ile733Val p.I733V ENST00000359032 NM_014203.2 733 Atc/Gtc 0 -ATRX UCSF GRCh37 X 76813051 76813084 + frameshift_variant Frame_Shift_Del DEL AACAACTCGAAAAGACAGTGACTGCTTAGTTACT AACAACTCGAAAAGACAGTGACTGCTTAGTTACT - NOVEL P29_Pri Untested WXS Illumina HiSeq 33 0 ENST00000373344.5:c.6537_6570del p.Val2180IlefsTer11 p.V2180Ifs*11 ENST00000373344 NM_000489.3 2179 caAGTAACTAAGCAGTCACTGTCTTTTCGAGTTGTT/ca 0 -CAPN9 UCSF GRCh37 1 230903389 230903389 + synonymous_variant Silent SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 132 87 236 0 ENST00000271971.2:c.639C>T p.Pro213= p.P213= ENST00000271971 NM_006615.2 213 ccC/ccT 0 -CDC25B UCSF GRCh37 20 3785568 3785568 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 140 262 248 0 ENST00000245960.5:c.1703G>A p.Arg568Gln p.R568Q ENST00000245960 NM_021873.2 568 cGg/cAg 0 -COL4A4 UCSF GRCh37 2 227966580 227966580 + splice_donor_variant Splice_Site SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 83 45 138 0 ENST00000396625.3:c.975+1G>A p.X325_splice ENST00000396625 NM_000092.4 0 -CUX1 UCSF GRCh37 7 101892124 101892124 + synonymous_variant Silent SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 36 5 38 0 ENST00000360264.3:c.4353G>A p.Pro1451= p.P1451= ENST00000360264 NM_001202543.1 1451 ccG/ccA 0 -DNAH5 UCSF GRCh37 5 13830849 13830849 + missense_variant Missense_Mutation SNP C C A NOVEL P29_Pri Untested WXS Illumina HiSeq 139 102 228 0 ENST00000265104.4:c.5918G>T p.Ser1973Ile p.S1973I ENST00000265104 NM_001369.2 1973 aGc/aTc 0 -DMT-ND1 UCSF GRCh37 5 140052430 140052430 + missense_variant Missense_Mutation SNP G G T 1000g2010nov_all_0.231,snp132_rs112925426 P29_Pri Untested WXS Illumina HiSeq 36 4 29 0 ENST00000542735.1:c.204C>A p.Asp68Glu p.D68E ENST00000542735 NM_194249.2 68 gaC/gaA 0 -DMT-ND1 UCSF GRCh37 5 140052424 140052424 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.301,snp132_rs72800921 P29_Pri Untested WXS Illumina HiSeq 35 4 27 1 ENST00000542735.1:c.210C>T p.Tyr70= p.Y70= ENST00000542735 NM_194249.2 70 taC/taT 0 -DPP6 UCSF GRCh37 7 153749963 153749963 + missense_variant Missense_Mutation SNP G G A snp132_rs2533731 P29_Pri Untested WXS Illumina HiSeq 17 4 9 0 ENST00000377770.3:c.58G>A p.Ala20Thr p.A20T ENST00000377770 20 Gcg/Acg 0 -EFTUD2 UCSF GRCh37 17 42937310 42937310 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 19 19 46 0 ENST00000426333.2:c.1823G>A p.Arg608His p.R608H ENST00000426333 NM_001142605.1 608 cGc/cAc 0 -EPHA8 UCSF GRCh37 1 22903034 22903034 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 164 164 301 0 ENST00000166244.3:c.484C>T p.Arg162Trp p.R162W ENST00000166244 NM_020526.3 162 Cgg/Tgg 0 -FAM114A1 UCSF GRCh37 4 38916617 38916617 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 119 64 205 0 ENST00000358869.2:c.868G>A p.Gly290Arg p.G290R ENST00000358869 NM_138389.2 290 Ggg/Agg 0 -FAM83H UCSF GRCh37 8 144808239 144808239 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 372 136 319 0 ENST00000388913.3:c.3392G>A p.Arg1131His p.R1131H ENST00000388913 NM_198488.3 1131 cGc/cAc 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 11 18 20 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL1RL2 UCSF GRCh37 2 102851729 102851729 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 58 54 137 0 ENST00000264257.2:c.1670G>A p.Arg557His p.R557H ENST00000264257 NM_003854.2 557 cGc/cAc 0 -INTS1 UCSF GRCh37 7 1539622 1539622 + synonymous_variant Silent SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 69 62 151 0 ENST00000404767.3:c.582C>T p.Ile194= p.I194= ENST00000404767 NM_001080453.2 194 atC/atT 0 -KCMT-ND1 UCSF GRCh37 X 48826075 48826075 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 17 66 92 0 ENST00000218176.3:c.604G>A p.Ala202Thr p.A202T ENST00000218176 NM_004979.4 202 Gcc/Acc 0 -KEL UCSF GRCh37 7 142650990 142650990 + synonymous_variant Silent SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 286 105 275 0 ENST00000355265.2:c.978G>A p.Pro326= p.P326= ENST00000355265 NM_000420.2 326 ccG/ccA 0 -KIAA1267 UCSF GRCh37 17 44249468 44249469 + protein_altering_variant In_Frame_Ins INS - - TGA NOVEL P29_Pri Untested WXS Illumina HiSeq 31 0 ENST00000262419.6:c.41_42insTCA p.Glu14delinsAspGln p.E14delinsDQ ENST00000262419 NM_001193466.1 14 gaa/gaTCAa 0 -KRT15 UCSF GRCh37 17 39673204 39673204 + missense_variant Missense_Mutation SNP C C A NOVEL P29_Pri Untested WXS Illumina HiSeq 34 31 67 0 ENST00000254043.3:c.594G>T p.Glu198Asp p.E198D ENST00000254043 NM_002275.3 198 gaG/gaT 0 -LAMB1 UCSF GRCh37 7 107626783 107626783 + missense_variant Missense_Mutation SNP A A T NOVEL P29_Pri Untested WXS Illumina HiSeq 182 120 291 0 ENST00000222399.6:c.449T>A p.Ile150Lys p.I150K ENST00000222399 NM_002291.2 150 aTa/aAa 0 -MEIS2 UCSF GRCh37 15 37376018 37376018 + synonymous_variant Silent SNP G G C NOVEL P29_Pri Untested WXS Illumina HiSeq 104 61 130 0 ENST00000561208.1:c.708C>G p.Ser236= p.S236= ENST00000561208 236 tcC/tcG 0 -MRVI1 UCSF GRCh37 11 10625991 10625991 + missense_variant Missense_Mutation SNP G G C NOVEL P29_Pri Untested WXS Illumina HiSeq 25 14 39 0 ENST00000423302.2:c.1704C>G p.Asn568Lys p.N568K ENST00000423302 NM_130385.3 568 aaC/aaG 0 -OR7C1 UCSF GRCh37 19 14910208 14910208 + synonymous_variant Silent SNP C C A NOVEL P29_Pri Untested WXS Illumina HiSeq 88 57 173 0 ENST00000248073.2:c.741G>T p.Val247= p.V247= ENST00000248073 NM_198944.1 247 gtG/gtT 0 -PIK3CG UCSF GRCh37 7 106509501 106509501 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 197 143 383 0 ENST00000359195.3:c.1495G>A p.Ala499Thr p.A499T ENST00000359195 NM_002649.2 499 Gct/Act 0 -POLL UCSF GRCh37 10 103345866 103345866 + stop_gained Nonsense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 17 11 27 0 ENST00000370162.3:c.163C>T p.Arg55Ter p.R55* ENST00000370162 NM_001174084.1 55 Cga/Tga 0 -POLR1A UCSF GRCh37 2 86260786 86260786 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 1 15 22 0 ENST00000263857.6:c.4159C>T p.Arg1387Trp p.R1387W ENST00000263857 1387 Cgg/Tgg 0 -PSMD13 UCSF GRCh37 11 251848 251848 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Pri Untested WXS Illumina HiSeq 69 48 122 0 ENST00000431206.2:c.953C>T p.Ser318Leu p.S318L ENST00000431206 NM_175932.2 318 tCg/tTg 0 -RETNLB UCSF GRCh37 3 108474653 108474653 + missense_variant Missense_Mutation SNP G G T NOVEL P29_Pri Untested WXS Illumina HiSeq 107 45 152 0 ENST00000295755.6:c.308C>A p.Thr103Asn p.T103N ENST00000295755 NM_032579.2 103 aCc/aAc 0 -RIN3 UCSF GRCh37 14 93118725 93118725 + missense_variant Missense_Mutation SNP A A G NOVEL P29_Pri Untested WXS Illumina HiSeq 36 29 68 0 ENST00000216487.7:c.1331A>G p.His444Arg p.H444R ENST00000216487 NM_024832.3 444 cAc/cGc 0 -RNF167 UCSF GRCh37 17 4846190 4846190 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 17 182 216 0 ENST00000262482.6:c.424G>A p.Glu142Lys p.E142K ENST00000262482 NM_015528.1 142 Gag/Aag 0 -RYK UCSF GRCh37 3 133928607 133928607 + missense_variant Missense_Mutation SNP T T C NOVEL P29_Pri Untested WXS Illumina HiSeq 77 44 113 0 ENST00000296084.4:c.515A>G p.Asn172Ser p.N172S ENST00000296084 NM_001005861.2 172 aAc/aGc 0 -STAG2 UCSF GRCh37 X 123200019 123200060 + splice_acceptor_variant,coding_sequence_variant,intron_variant Splice_Site DEL TTACAGTGCCCATGACCTTTCAAAGTGGGATTTATTTGCTTG TTACAGTGCCCATGACCTTTCAAAGTGGGATTTATTTGCTTG ACAGGGCCCATGCCCTTTCAAAGGGGGATTTTTTTTTTTT NOVEL P29_Pri Untested WXS Illumina HiSeq 6 0 ENST00000218089.9:c.2097-6_2132delinsACAGGGCCCATGCCCTTTCAAAGGGGGATTTTTTTTTTTT p.X699_splice ENST00000218089 NM_001042749.1 0 -TEX11 UCSF GRCh37 X 69849501 69849501 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 10 100 149 0 ENST00000395889.2:c.1613C>T p.Pro538Leu p.P538L ENST00000395889 NM_001003811.1 538 cCt/cTt 0 -THEG UCSF GRCh37 19 367122 367122 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Pri Untested WXS Illumina HiSeq 34 44 91 0 ENST00000342640.4:c.856C>T p.Pro286Ser p.P286S ENST00000342640 NM_016585.4 286 Ccc/Tcc 0 -TMCC3 UCSF GRCh37 12 94975905 94975905 + missense_variant Missense_Mutation SNP A A T NOVEL P29_Pri Untested WXS Illumina HiSeq 194 112 329 0 ENST00000261226.4:c.488T>A p.Ile163Lys p.I163K ENST00000261226 NM_020698.2 163 aTa/aAa 0 -TMEM176A UCSF GRCh37 7 150498790 150498790 + missense_variant Missense_Mutation SNP G G T NOVEL P29_Pri Untested WXS Illumina HiSeq 43 12 22 0 ENST00000484928.1:c.152G>T p.Ser51Ile p.S51I ENST00000484928 51 aGc/aTc 0 -TMTC4 UCSF GRCh37 13 101320994 101320994 + missense_variant Missense_Mutation SNP T T C NOVEL P29_Pri Untested WXS Illumina HiSeq 15 16 37 0 ENST00000342624.5:c.58A>G p.Met20Val p.M20V ENST00000342624 NM_032813.2 20 Atg/Gtg 0 -TP53 UCSF GRCh37 17 7577115 7577115 + missense_variant Missense_Mutation SNP A A G NOVEL P29_Pri Untested WXS Illumina HiSeq 6 101 153 0 ENST00000269305.4:c.823T>C p.Cys275Arg p.C275R ENST00000269305 NM_001126112.2 275 Tgt/Cgt 0 -ZNF236 UCSF GRCh37 18 74625704 74625704 + missense_variant,splice_region_variant Missense_Mutation SNP T T A NOVEL P29_Pri Untested WXS Illumina HiSeq 189 108 325 0 ENST00000253159.8:c.2905T>A p.Cys969Ser p.C969S ENST00000253159 NM_007345.3 969 Tgt/Agt 0 -ZNF394 UCSF GRCh37 7 99097486 99097486 + synonymous_variant Silent SNP T T C NOVEL P29_Pri Untested WXS Illumina HiSeq 75 58 138 0 ENST00000337673.6:c.231A>G p.Gly77= p.G77= ENST00000337673 NM_032164.2 77 ggA/ggG 0 -ADNP UCSF GRCh37 20 49508204 49508204 + frameshift_variant Frame_Shift_Del DEL T T - NOVEL P29_Rec Untested WXS Illumina HiSeq 6 0 ENST00000396029.3:c.3047delA p.Lys1016ArgfsTer11 p.K1016Rfs*11 ENST00000396029 NM_015339.2 1016 aAg/ag 0 -AHNAK2 UCSF GRCh37 14 105413143 105413143 + missense_variant Missense_Mutation SNP G G A 1000g2010nov_all_0.044 P29_Rec Untested WXS Illumina HiSeq 11 3 14 0 ENST00000333244.5:c.8645C>T p.Pro2882Leu p.P2882L ENST00000333244 NM_138420.2 2882 cCa/cTa 0 -AHNAK2 UCSF GRCh37 14 105413142 105413142 + synonymous_variant Silent SNP T T C NOVEL P29_Rec Untested WXS Illumina HiSeq 11 3 13 0 ENST00000333244.5:c.8646A>G p.Pro2882= p.P2882= ENST00000333244 NM_138420.2 2882 ccA/ccG 0 -APBA1 UCSF GRCh37 9 72067044 72067045 + frameshift_variant Frame_Shift_Del DEL AC AC - NOVEL P29_Rec Untested WXS Illumina HiSeq 15 0 ENST00000265381.4:c.1961_1962del p.Cys654Ter p.C654* ENST00000265381 NM_001163.3 654 tGT/t 0 -ATRX UCSF GRCh37 X 76813051 76813084 + frameshift_variant Frame_Shift_Del DEL AACAACTCGAAAAGACAGTGACTGCTTAGTTACT AACAACTCGAAAAGACAGTGACTGCTTAGTTACT - NOVEL P29_Rec Untested WXS Illumina HiSeq 28 0 ENST00000373344.5:c.6537_6570del p.Val2180IlefsTer11 p.V2180Ifs*11 ENST00000373344 NM_000489.3 2179 caAGTAACTAAGCAGTCACTGTCTTTTCGAGTTGTT/ca 0 -C16orf73 UCSF GRCh37 16 1884364 1884364 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 200 40 131 0 ENST00000412554.2:c.1309G>A p.Val437Ile p.V437I ENST00000412554 NM_001163560.2 437 Gtt/Att 0 -C20orf107 UCSF GRCh37 20 55108415 55108415 + synonymous_variant Silent SNP G G T NOVEL P29_Rec Untested WXS Illumina HiSeq 251 51 238 0 ENST00000371325.1:c.18G>T p.Ser6= p.S6= ENST00000371325 NM_001013646.3 6 tcG/tcT 0 -C6orf165 UCSF GRCh37 6 88144700 88144700 + frameshift_variant Frame_Shift_Del DEL A A - NOVEL P29_Rec Untested WXS Illumina HiSeq 6 0 ENST00000369562.4:c.1430delA p.Asn477IlefsTer4 p.N477Ifs*4 ENST00000369562 NM_001031743.2 475 Aaa/aa 0 -C6orf89 UCSF GRCh37 6 36867371 36867371 + frameshift_variant Frame_Shift_Del DEL C C - NOVEL P29_Rec Untested WXS Illumina HiSeq 6 0 ENST00000355190.3:c.179delC p.Pro60ArgfsTer7 p.P60Rfs*7 ENST00000355190 NM_152734.3 58 Ccc/cc 0 -CDC25B UCSF GRCh37 20 3785568 3785568 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 271 214 248 0 ENST00000245960.5:c.1703G>A p.Arg568Gln p.R568Q ENST00000245960 NM_021873.2 568 cGg/cAg 0 -COL4A4 UCSF GRCh37 2 227966580 227966580 + splice_donor_variant Splice_Site SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 121 54 138 0 ENST00000396625.3:c.975+1G>A p.X325_splice ENST00000396625 NM_000092.4 0 -DNAH5 UCSF GRCh37 5 13830849 13830849 + missense_variant Missense_Mutation SNP C C A NOVEL P29_Rec Untested WXS Illumina HiSeq 230 94 228 0 ENST00000265104.4:c.5918G>T p.Ser1973Ile p.S1973I ENST00000265104 NM_001369.2 1973 aGc/aTc 0 -DMT-ND1 UCSF GRCh37 5 140052430 140052430 + missense_variant Missense_Mutation SNP G G T 1000g2010nov_all_0.231,snp132_rs112925426 P29_Rec Untested WXS Illumina HiSeq 47 6 29 0 ENST00000542735.1:c.204C>A p.Asp68Glu p.D68E ENST00000542735 NM_194249.2 68 gaC/gaA 0 -DMT-ND1 UCSF GRCh37 5 140052424 140052424 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.301,snp132_rs72800921 P29_Rec Untested WXS Illumina HiSeq 42 6 27 1 ENST00000542735.1:c.210C>T p.Tyr70= p.Y70= ENST00000542735 NM_194249.2 70 taC/taT 0 -EFTUD2 UCSF GRCh37 17 42937310 42937310 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 38 24 46 0 ENST00000426333.2:c.1823G>A p.Arg608His p.R608H ENST00000426333 NM_001142605.1 608 cGc/cAc 0 -EPHA8 UCSF GRCh37 1 22903034 22903034 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 262 130 301 0 ENST00000166244.3:c.484C>T p.Arg162Trp p.R162W ENST00000166244 NM_020526.3 162 Cgg/Tgg 0 -FAM83H UCSF GRCh37 8 144808239 144808239 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 197 154 319 0 ENST00000388913.3:c.3392G>A p.Arg1131His p.R1131H ENST00000388913 NM_198488.3 1131 cGc/cAc 0 -GAS2 UCSF GRCh37 11 22707300 22707300 + missense_variant Missense_Mutation SNP T T C NOVEL P29_Rec Untested WXS Illumina HiSeq 97 30 75 0 ENST00000454584.2:c.232T>C p.Phe78Leu p.F78L ENST00000454584 NM_001143830.1 78 Ttc/Ctc 0 -HERC2 UCSF GRCh37 15 28419659 28419659 + synonymous_variant Silent SNP G G A 1000g2010nov_all_0.004,1000g2011may_all_0.0126,snp132_rs117437554 P29_Rec Untested WXS Illumina HiSeq 23 5 18 0 ENST00000261609.7:c.9939C>T p.Arg3313= p.R3313= ENST00000261609 NM_004667.5 3313 cgC/cgT 0 -IDH1 UCSF GRCh37 2 209113112 209113112 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 27 10 20 0 ENST00000345146.2:c.395G>A p.Arg132His p.R132H ENST00000345146 NM_005896.2 132 cGt/cAt 0 -IL1RL2 UCSF GRCh37 2 102851729 102851729 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 101 46 137 0 ENST00000264257.2:c.1670G>A p.Arg557His p.R557H ENST00000264257 NM_003854.2 557 cGc/cAc 0 -INTS1 UCSF GRCh37 7 1539622 1539622 + synonymous_variant Silent SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 131 68 151 0 ENST00000404767.3:c.582C>T p.Ile194= p.I194= ENST00000404767 NM_001080453.2 194 atC/atT 0 -KIAA1267 UCSF GRCh37 17 44249468 44249469 + protein_altering_variant In_Frame_Ins INS - - TGA NOVEL P29_Rec Untested WXS Illumina HiSeq 19 0 ENST00000262419.6:c.41_42insTCA p.Glu14delinsAspGln p.E14delinsDQ ENST00000262419 NM_001193466.1 14 gaa/gaTCAa 0 -KRT15 UCSF GRCh37 17 39673204 39673204 + missense_variant Missense_Mutation SNP C C A NOVEL P29_Rec Untested WXS Illumina HiSeq 57 19 67 0 ENST00000254043.3:c.594G>T p.Glu198Asp p.E198D ENST00000254043 NM_002275.3 198 gaG/gaT 0 -KRTAP5-1 UCSF GRCh37 11 1605979 1605979 + synonymous_variant Silent SNP A A G snp132_rs59646474 P29_Rec Untested WXS Illumina HiSeq 12 3 12 0 ENST00000382171.2:c.501T>C p.Cys167= p.C167= ENST00000382171 NM_001005922.1 167 tgT/tgC 0 -MEIS2 UCSF GRCh37 15 37376018 37376018 + synonymous_variant Silent SNP G G C NOVEL P29_Rec Untested WXS Illumina HiSeq 129 70 130 0 ENST00000561208.1:c.708C>G p.Ser236= p.S236= ENST00000561208 236 tcC/tcG 0 -MRVI1 UCSF GRCh37 11 10625991 10625991 + missense_variant Missense_Mutation SNP G G C NOVEL P29_Rec Untested WXS Illumina HiSeq 50 14 39 0 ENST00000423302.2:c.1704C>G p.Asn568Lys p.N568K ENST00000423302 NM_130385.3 568 aaC/aaG 0 -OBSCN UCSF GRCh37 1 228467634 228467634 + missense_variant Missense_Mutation SNP G G C NOVEL P29_Rec Untested WXS Illumina HiSeq 353 65 324 0 ENST00000570156.2:c.8796G>C p.Lys2932Asn p.K2932N ENST00000570156 NM_001271223.2 2932 aaG/aaC 0 -OR7C1 UCSF GRCh37 19 14910208 14910208 + synonymous_variant Silent SNP C C A NOVEL P29_Rec Untested WXS Illumina HiSeq 144 68 173 0 ENST00000248073.2:c.741G>T p.Val247= p.V247= ENST00000248073 NM_198944.1 247 gtG/gtT 0 -PIK3CG UCSF GRCh37 7 106509501 106509501 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 443 130 383 0 ENST00000359195.3:c.1495G>A p.Ala499Thr p.A499T ENST00000359195 NM_002649.2 499 Gct/Act 0 -POLR1A UCSF GRCh37 2 86260786 86260786 + missense_variant,splice_region_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 23 12 22 0 ENST00000263857.6:c.4159C>T p.Arg1387Trp p.R1387W ENST00000263857 1387 Cgg/Tgg 0 -POM121 UCSF GRCh37 7 72413581 72413581 + missense_variant Missense_Mutation SNP G G A snp132_rs71554687 P29_Rec Untested WXS Illumina HiSeq 24 5 10 0 ENST00000395270.1:c.2254G>A p.Val752Ile p.V752I ENST00000395270 NM_001257190.2 752 Gtc/Atc 0 -POM121 UCSF GRCh37 7 72413593 72413593 + missense_variant Missense_Mutation SNP T T C 1000g2010nov_all_0.170,snp132_rs71554688 P29_Rec Untested WXS Illumina HiSeq 24 5 11 0 ENST00000395270.1:c.2266T>C p.Tyr756His p.Y756H ENST00000395270 NM_001257190.2 756 Tac/Cac 0 -PSMD13 UCSF GRCh37 11 251848 251848 + missense_variant Missense_Mutation SNP C C T NOVEL P29_Rec Untested WXS Illumina HiSeq 118 52 122 0 ENST00000431206.2:c.953C>T p.Ser318Leu p.S318L ENST00000431206 NM_175932.2 318 tCg/tTg 0 -PTGIR UCSF GRCh37 19 47127054 47127054 + missense_variant Missense_Mutation SNP G G C NOVEL P29_Rec Untested WXS Illumina HiSeq 36 14 53 0 ENST00000291294.2:c.429C>G p.Ile143Met p.I143M ENST00000291294 NM_000960.3 143 atC/atG 0 -RBBP7 UCSF GRCh37 X 16870935 16870935 + missense_variant Missense_Mutation SNP T T G NOVEL P29_Rec Untested WXS Illumina HiSeq 24 10 36 0 ENST00000380084.4:c.954A>C p.Glu318Asp p.E318D ENST00000380084 NM_001198719.1 318 gaA/gaC 0 -RNF167 UCSF GRCh37 17 4846190 4846190 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 122 163 216 0 ENST00000262482.6:c.424G>A p.Glu142Lys p.E142K ENST00000262482 NM_015528.1 142 Gag/Aag 0 -SGOL1 UCSF GRCh37 3 20216031 20216031 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 596 121 449 0 ENST00000263753.4:c.992C>T p.Ser331Phe p.S331F ENST00000263753 NM_001012410.3 331 tCc/tTc 0 -SMARCAD1 UCSF GRCh37 4 95197556 95197556 + synonymous_variant Silent SNP A A G NOVEL P29_Rec Untested WXS Illumina HiSeq 267 42 253 0 ENST00000359052.4:c.1875A>G p.Ala625= p.A625= ENST00000359052 NM_001128430.1 625 gcA/gcG 0 -TBC1D3G UCSF GRCh37 17 34797608 34797608 + missense_variant Missense_Mutation SNP T T C NOVEL P29_Rec Untested WXS Illumina HiSeq 12 4 22 1 ENST00000341264.6:c.1528A>G p.Ser510Gly p.S510G ENST00000341264 NM_001040282.2 510 Agc/Ggc 0 -TCHH UCSF GRCh37 1 152086556 152086557 + upstream_gene_variant 5'Flank INS - - TT NOVEL P29_Rec Untested WXS Illumina HiSeq 18 0 ENST00000368804 NM_007113.3 0 -TEX11 UCSF GRCh37 X 69849501 69849501 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 78 80 149 0 ENST00000395889.2:c.1613C>T p.Pro538Leu p.P538L ENST00000395889 NM_001003811.1 538 cCt/cTt 0 -THEG UCSF GRCh37 19 367122 367122 + missense_variant Missense_Mutation SNP G G A NOVEL P29_Rec Untested WXS Illumina HiSeq 84 27 91 0 ENST00000342640.4:c.856C>T p.Pro286Ser p.P286S ENST00000342640 NM_016585.4 286 Ccc/Tcc 0 -TMTC4 UCSF GRCh37 13 101320994 101320994 + missense_variant Missense_Mutation SNP T T C NOVEL P29_Rec Untested WXS Illumina HiSeq 31 23 37 0 ENST00000342624.5:c.58A>G p.Met20Val p.M20V ENST00000342624 NM_032813.2 20 Atg/Gtg 0 -TP53 UCSF GRCh37 17 7577115 7577115 + missense_variant Missense_Mutation SNP A A G NOVEL P29_Rec Untested WXS Illumina HiSeq 91 105 153 0 ENST00000269305.4:c.823T>C p.Cys275Arg p.C275R ENST00000269305 NM_001126112.2 275 Tgt/Cgt 0 -XPC UCSF GRCh37 3 14219966 14219968 + inframe_deletion,splice_region_variant In_Frame_Del DEL CCT CCT - 1000g2010nov_all P29_Rec Untested WXS Illumina HiSeq 6 0 ENST00000285021.7:c.101_103delAGG p.Glu34del p.E34del ENST00000285021 NM_004628.4 34 gAGGat/gat 0 -ZNF394 UCSF GRCh37 7 99097486 99097486 + synonymous_variant Silent SNP T T C NOVEL P29_Rec Untested WXS Illumina HiSeq 204 82 138 0 ENST00000337673.6:c.231A>G p.Gly77= p.G77= ENST00000337673 NM_032164.2 77 ggA/ggG 0 diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_timeline_specimen.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_timeline_specimen.txt deleted file mode 100644 index a966ad8f5d8..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_timeline_specimen.txt +++ /dev/null @@ -1,61 +0,0 @@ -PATIENT_ID START_DATE STOP_DATE EVENT_TYPE SAMPLE_ID SURGERY -P01 124 SPECIMEN P01_Pri Astro II Initial -P02 0 SPECIMEN P02_Pri OA II Initial -P04 0 SPECIMEN P04_Pri Astro II Initial -P05 0 SPECIMEN P05_Pri Astro II Initial -P06 574 SPECIMEN P06_Pri Astro II Initial -P07 0 SPECIMEN P07_Pri Astro II Initial -P08 1368 SPECIMEN P08_Pri OA II Initial -P09 0 SPECIMEN P09_Pri Astro II Initial -P10 0 SPECIMEN P10_Pri Astro II Initial -P11 0 SPECIMEN P11_Pri OA II Initial -P12 0 SPECIMEN P12_Pri Astro II Initial -P13 3 SPECIMEN P13_Pri OA II Initial -P15 0 SPECIMEN P15_Pri OA II Initial -P16 0 SPECIMEN P16_Pri Astro II Initial -P17 311 SPECIMEN P17_Pri_A Oligo II Initial -P18 0 SPECIMEN P18_Pri_A OA II Initial -P21 0 SPECIMEN P21_Pri Astro II Initial -P24 0 SPECIMEN P24_Pri Astro II Initial -P25 0 SPECIMEN P25_Pri Astro II Initial -P26 0 SPECIMEN P26_Pri_A Astro II Initial -P27 0 SPECIMEN P27_Pri_A Astro II Initial -P28 0 SPECIMEN P28_Pri Astro II Initial -P29 0 SPECIMEN P29_Pri Astro II Initial -P01 1063 SPECIMEN P01_Rec Glioblastoma -P02 2226 SPECIMEN P02_Rec AA III Recurrence1 -P05 1687 SPECIMEN P05_Rec GBM Recurrence1 -P06 1545 SPECIMEN P06_Rec Astro II Recurrence1 -P07 3134 SPECIMEN P07_Rec Astro II Recurrence1 -P08 2565 SPECIMEN P08_Rec GBM Recurrence1 -P09 1062 SPECIMEN P09_Rec GBM Recurrence1 -P10 758 SPECIMEN P10_Rec GBM Recurrence1 -P11 3954 SPECIMEN P11_Rec Oligo II Recurrence1 -P12 504 SPECIMEN P12_Rec AA III Recurrence1 -P13 622 SPECIMEN P13_Rec OA II Recurrence1 -P15 3564 SPECIMEN P15_Rec OA II Recurrence1 -P16 150 SPECIMEN P16_Rec Astro II Recurrence1 -P17 1214 SPECIMEN P17_Rec1_A GBM Recurrence1 -P18 2829 SPECIMEN P18_Rec GBM Recurrence1 -P21 628 SPECIMEN P21_Rec GBM Recurrence1 -P24 2630 SPECIMEN P24_Rec1 Astro II Recurrence1 -P24 3045 SPECIMEN P24_Rec2 GBM Recurrence2 -P25 420 SPECIMEN P25_Rec GBM Recurrence1 -P26 490 SPECIMEN P26_Rec1_A AA III Recurrence1 -P27 0 SPECIMEN P27_Pri_B Astro II Initial -P27 345 SPECIMEN P27_Rec1_A AA III Recurrence1 -P28 2553 SPECIMEN P28_Rec AA III Recurrence1 -P29 1703 SPECIMEN P29_Rec AA III Recurrence1 -P04 461 SPECIMEN P04_Rec1 Anaplastic astrocytoma -P04 1075 SPECIMEN P04_Rec2 Anaplastic astrocytoma -P04 1343 SPECIMEN P04_Rec3 Anaplastic astrocytoma -P27 345 SPECIMEN P27_Rec1_B AA III Recurrence1 -P18 0 SPECIMEN P18_Pri_B OA II Initial -P18 0 SPECIMEN P18_Pri_C OA II Initial -P18 0 SPECIMEN P18_Pri_D OA II Initial -P24 0 SPECIMEN P26_Pri_B Astro II Initial -P17 311 SPECIMEN P17_Pri_B Oligo II Initial -P17 311 SPECIMEN P17_Pri_C Oligo II Initial -P17 1214 SPECIMEN P17_Rec1_B GBM Recurrence1 -P17 1214 SPECIMEN P17_Rec1_C GBM Recurrence1 -P17 1214 SPECIMEN P17_Rec1_D GBM Recurrence1 \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_timeline_status.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_timeline_status.txt deleted file mode 100644 index 4e1b30031d4..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_timeline_status.txt +++ /dev/null @@ -1,31 +0,0 @@ -PATIENT_ID START_DATE STOP_DATE EVENT_TYPE STATUS -P01 580 STATUS radiographic_progression -P01 1041 STATUS radiographic_progression -P01 1377 STATUS radiographic_progression -P02 2156 STATUS radiographic_progression -P04 432 STATUS radiographic_progression -P04 1065 STATUS radiographic_progression -P04 1282 STATUS radiographic_progression -P05 562 STATUS radiographic_progression -P05 1668 STATUS radiographic_progression -P06 1517 STATUS radiographic_progression -P07 2490 STATUS radiographic_progression -P08 1362 STATUS radiographic_progression -P08 2548 STATUS radiographic_progression -P09 1023 STATUS radiographic_progression -P10 737 STATUS radiographic_progression -P11 3031 STATUS radiographic_progression -P11 3870 STATUS radiographic_progression -P12 442 STATUS radiographic_progression -P15 3539 STATUS radiographic_progression -P17 193 STATUS radiographic_progression -P17 1186 STATUS radiographic_progression -P18 2746 STATUS radiographic_progression -P21 605 STATUS radiographic_progression -P24 2462 STATUS radiographic_progression -P24 3001 STATUS radiographic_progression -P25 414 STATUS radiographic_progression -P26 411 STATUS radiographic_progression -P27 300 STATUS radiographic_progression -P28 2502 STATUS radiographic_progression -P29 1506 STATUS radiographic_progression \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_timeline_surgery.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_timeline_surgery.txt deleted file mode 100644 index 5259f75e6c6..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_timeline_surgery.txt +++ /dev/null @@ -1,55 +0,0 @@ -PATIENT_ID START_DATE STOP_DATE EVENT_TYPE EVENT_TYPE_DETAILED -P01 0 SURGERY Astro II biopsy -P01 124 SURGERY Astro II Initial -P01 1063 SURGERY GBM Recurrence1 -P01 1391 SURGERY GBM Recurrence2 -P02 0 SURGERY OA II Initial -P02 2226 SURGERY AA III Recurrence1 -P04 0 SURGERY Astro II Initial -P04 461 SURGERY AA III Recurrence1 -P04 1075 SURGERY AA III Recurrence2 -P04 1343 SURGERY AA III Recurrence3 -P05 0 SURGERY Astro II Initial -P05 1687 SURGERY GBM Recurrence1 -P06 0 SURGERY Astro II biopsy -P06 574 SURGERY Astro II Initial -P06 1545 SURGERY Astro II Recurrence1 -P07 0 SURGERY Astro II Initial -P07 3134 SURGERY Astro II Recurrence1 -P08 0 SURGERY Astro II unknown -P08 1368 SURGERY OA II Initial -P08 2565 SURGERY GBM Recurrence1 -P09 0 SURGERY Astro II Initial -P09 1062 SURGERY GBM Recurrence1 -P10 0 SURGERY Astro II Initial -P10 758 SURGERY GBM Recurrence1 -P11 0 SURGERY OA II Initial -P11 3954 SURGERY Oligo II Recurrence1 -P12 0 SURGERY Astro II Initial -P12 504 SURGERY AA III Recurrence1 -P13 3 SURGERY OA II Initial -P13 622 SURGERY OA II Recurrence1 -P15 0 SURGERY OA II Initial -P15 3564 SURGERY OA II Recurrence1 -P16 0 SURGERY Astro II Initial -P16 150 SURGERY Astro II Recurrence1 -P17 0 SURGERY OA II biopsy -P17 311 SURGERY Oligo II Initial -P17 1214 SURGERY GBM Recurrence1 -P18 0 SURGERY OA II Initial -P18 2829 SURGERY GBM Recurrence1 -P21 0 SURGERY Astro II Initial -P21 628 SURGERY GBM Recurrence1 -P24 0 SURGERY Astro II Initial -P24 2630 SURGERY Astro II Recurrence1 -P24 3045 SURGERY GBM Recurrence2 -P25 0 SURGERY Astro II Initial -P25 420 SURGERY GBM Recurrence1 -P26 0 SURGERY Astro II Initial -P26 490 SURGERY AA III Recurrence1 -P27 0 SURGERY Astro II Initial -P27 345 SURGERY AA III Recurrence1 -P28 0 SURGERY Astro II Initial -P28 2553 SURGERY AA III Recurrence1 -P29 0 SURGERY Astro II Initial -P29 1703 SURGERY AA III Recurrence1 \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_timeline_treatment.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_timeline_treatment.txt deleted file mode 100644 index 754c3d82449..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/data_timeline_treatment.txt +++ /dev/null @@ -1,21 +0,0 @@ -PATIENT_ID START_DATE STOP_DATE EVENT_TYPE TREATMENT_TYPE SUBTYPE AGENT -P01 611 977 TREATMENT Medical Therapy Chemotherapy TMZ -P01 977 1007 TREATMENT Medical Therapy TMZ + accutane -P01 1007 1038 TREATMENT Medical Therapy TMZ + thalidomide -P01 1088 1132 TREATMENT Radiation Therapy XRT -P01 1160 1342 TREATMENT Medical Therapy CCNU + thalidomide -P04 488 518 TREATMENT Medical Therapy Chemotherapy TMZ -P04 488 700 TREATMENT Radiation Therapy XRT -P04 1111 1279 TREATMENT Medical Therapy Chemotherapy TMZ -P05 562 928 TREATMENT Medical Therapy Chemotherapy TMZ -P06 0 176 TREATMENT Medical Therapy Chemotherapy TMZ -P07 47 86 TREATMENT Radiation Therapy XRT -P09 34 77 TREATMENT Radiation Therapy XRT -P10 0 273 TREATMENT Medical Therapy Chemotherapy TMZ -P11 29 71 TREATMENT Radiation Therapy XRT -P11 3038 3810 TREATMENT Medical Therapy Chemotherapy TMZ -P17 333 698 TREATMENT Medical Therapy Chemotherapy TMZ -P18 0 323 TREATMENT Medical Therapy Chemotherapy TMZ -P21 119 484 TREATMENT Medical Therapy Chemotherapy TMZ -P24 30 61 TREATMENT Radiation Therapy XRT -P24 2650 3007 TREATMENT Medical Therapy Chemotherapy TMZ \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_HLA.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_HLA.txt deleted file mode 100644 index f90cb6c8300..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_HLA.txt +++ /dev/null @@ -1,11 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: HLA -datatype: CATEGORICAL -stable_id: hla -profile_name: HLA data -profile_description: profile for HLA data -data_filename: data_HLA.txt -show_profile_in_analysis_tab: true -patient_level: true -generic_entity_meta_properties: NAME,DESCRIPTION \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_armlevel_CNA.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_armlevel_CNA.txt deleted file mode 100644 index 95ecfe563fc..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_armlevel_CNA.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: ARMLEVEL_CNA -datatype: CATEGORICAL -stable_id: armlevel_cna -profile_name: Putative arm-level copy-number from GISTIC -profile_description: Putative arm-level copy-number from GISTIC 2.0. -data_filename: data_armlevel_CNA.txt -show_profile_in_analysis_tab: true -generic_entity_meta_properties: NAME,DESCRIPTION \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_clinical_patient.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_clinical_patient.txt deleted file mode 100644 index df7fd2f6a71..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_clinical_patient.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: CLINICAL -datatype: PATIENT_ATTRIBUTES -data_filename: data_clinical_patient.txt \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_clinical_sample.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_clinical_sample.txt deleted file mode 100644 index 1be97253ada..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_clinical_sample.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: CLINICAL -datatype: SAMPLE_ATTRIBUTES -data_filename: data_clinical_sample.txt \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_binary_SBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_binary_SBS.txt deleted file mode 100644 index dd483c18c9f..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_binary_SBS.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: MUTATIONAL_SIGNATURE_TEST -datatype: BINARY -stable_id: mutational_signature_binary_SBS -profile_name: mutational signature binary SBS -profile_description: fake profile for binary of mutational signatures (SBS) -data_filename: data_mutational_signature_binary_SBS.txt -show_profile_in_analysis_tab: true -generic_entity_meta_properties: NAME,DESCRIPTION,URL diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_category_DBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_category_DBS.txt deleted file mode 100644 index c0d5abc75c9..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_category_DBS.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: MUTATIONAL_SIGNATURE_TEST -datatype: CATEGORICAL -stable_id: mutational_signature_category_DBS -profile_name: mutational signature category DBS -profile_description: Fake profile for category of mutational signatures DBS -data_filename: data_mutational_signature_category_DBS.txt -show_profile_in_analysis_tab: true -generic_entity_meta_properties: NAME,DESCRIPTION,URL diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_category_SBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_category_SBS.txt deleted file mode 100644 index 67afbbe050e..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_category_SBS.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: MUTATIONAL_SIGNATURE_TEST -datatype: CATEGORICAL -stable_id: mutational_signature_category_SBS -profile_name: mutational signature category SBS -profile_description: Fake profile for category of mutational signatures SBS -data_filename: data_mutational_signature_category_SBS.txt -show_profile_in_analysis_tab: true -generic_entity_meta_properties: NAME,DESCRIPTION,URL diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_contribution_DBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_contribution_DBS.txt deleted file mode 100644 index 2d73b339214..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_contribution_DBS.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: MUTATIONAL_SIGNATURE -datatype: LIMIT-VALUE -stable_id: mutational_signature_contribution_DBS -profile_name: mutational signature contribution DBS -profile_description: Fake profile for contribution value of mutational signatures DBS -data_filename: data_mutational_signature_contribution_DBS.txt -show_profile_in_analysis_tab: true -generic_entity_meta_properties: NAME,DESCRIPTION,URL diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_contribution_ID.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_contribution_ID.txt deleted file mode 100644 index 4b046b048d6..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_contribution_ID.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: MUTATIONAL_SIGNATURE -datatype: LIMIT-VALUE -stable_id: mutational_signature_contribution_ID -profile_name: mutational signature contribution ID -profile_description: Fake profile for contribution value of mutational signatures ID -data_filename: data_mutational_signature_contribution_ID.txt -show_profile_in_analysis_tab: true -generic_entity_meta_properties: NAME,DESCRIPTION,URL diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_contribution_SBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_contribution_SBS.txt deleted file mode 100644 index 5ee0ce59131..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_contribution_SBS.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: MUTATIONAL_SIGNATURE -datatype: LIMIT-VALUE -stable_id: mutational_signature_contribution_SBS -profile_name: mutational signature contribution SBS -profile_description: fake profile for contribution value of mutational signatures SBS -data_filename: data_mutational_signature_contribution_SBS.txt -show_profile_in_analysis_tab: true -generic_entity_meta_properties: NAME,DESCRIPTION,URL diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_counts_DBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_counts_DBS.txt deleted file mode 100644 index 231c5368626..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_counts_DBS.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: MUTATIONAL_SIGNATURE -datatype: LIMIT-VALUE -stable_id: mutational_signature_counts_DBS -profile_name: mutational signature counts DBS -profile_description: fake profile for count value of mutational signatures DBS -data_filename: data_mutational_signature_counts_DBS.txt -show_profile_in_analysis_tab: false -generic_entity_meta_properties: NAME diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_counts_ID.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_counts_ID.txt deleted file mode 100644 index 0d5e2703a3e..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_counts_ID.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: MUTATIONAL_SIGNATURE -datatype: LIMIT-VALUE -stable_id: mutational_signature_counts_ID -profile_name: mutational signature counts ID -profile_description: Fake profile for count value of mutational signatures ID -data_filename: data_mutational_signature_counts_ID.txt -show_profile_in_analysis_tab: false -generic_entity_meta_properties: NAME diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_counts_SBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_counts_SBS.txt deleted file mode 100644 index 8cc98b5dfdc..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_counts_SBS.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: MUTATIONAL_SIGNATURE -datatype: LIMIT-VALUE -stable_id: mutational_signature_counts_SBS -profile_name: mutational signature counts SBS -profile_description: fake profile for count value of mutational signatures SBS -data_filename: data_mutational_signature_counts_SBS.txt -show_profile_in_analysis_tab: false -generic_entity_meta_properties: NAME diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_pvalue_DBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_pvalue_DBS.txt deleted file mode 100644 index fb32c845236..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_pvalue_DBS.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: MUTATIONAL_SIGNATURE -datatype: LIMIT-VALUE -stable_id: mutational_signature_pvalue_DBS -profile_name: mutational signature pvalue DBS -profile_description: fake profile for pvalue of mutational signatures DBS -data_filename: data_mutational_signature_pvalue_DBS.txt -show_profile_in_analysis_tab: false -generic_entity_meta_properties: NAME,DESCRIPTION,URL diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_pvalue_ID.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_pvalue_ID.txt deleted file mode 100644 index aeb783d568b..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_pvalue_ID.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: MUTATIONAL_SIGNATURE -datatype: LIMIT-VALUE -stable_id: mutational_signature_pvalue_ID -profile_name: mutational signature pvalue ID -profile_description: fake profile for pvalue of mutational signatures ID -data_filename: data_mutational_signature_pvalue_ID.txt -show_profile_in_analysis_tab: false -generic_entity_meta_properties: NAME,DESCRIPTION,URL diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_pvalue_SBS.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_pvalue_SBS.txt deleted file mode 100644 index ed363ed3466..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutational_signature_pvalue_SBS.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: MUTATIONAL_SIGNATURE -datatype: LIMIT-VALUE -stable_id: mutational_signature_pvalue_SBS -profile_name: mutational signature pvalue SBS -profile_description: fake profile for pvalue of mutational signatures SBS -data_filename: data_mutational_signature_pvalue_SBS.txt -show_profile_in_analysis_tab: false -generic_entity_meta_properties: NAME,DESCRIPTION,URL diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutations_extended.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutations_extended.txt deleted file mode 100644 index e534043b9ce..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_mutations_extended.txt +++ /dev/null @@ -1,8 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: MUTATION_EXTENDED -stable_id: mutations -datatype: MAF -show_profile_in_analysis_tab: true -profile_description: Mutation data from whole exome sequencing of 23 grade II glioma tumor/normal pairs. -profile_name: Mutations -data_filename: data_mutations_extended.txt \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_study.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_study.txt deleted file mode 100755 index c66c10beaa0..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_study.txt +++ /dev/null @@ -1,7 +0,0 @@ -type_of_cancer: difg -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -name: Low-Grade Gliomas (UCSF, Science 2014) -description: Whole exome sequencing of 23 grade II glioma tumor/normal pairs. -citation: Johnson et al. Science 2014 -pmid: 24336570 -groups: PUBLIC diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_timeline_specimen.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_timeline_specimen.txt deleted file mode 100644 index 7196a8c0951..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_timeline_specimen.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: CLINICAL -datatype: TIMELINE -data_filename: data_timeline_specimen.txt \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_timeline_status.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_timeline_status.txt deleted file mode 100644 index fe8c1e5eefd..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_timeline_status.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: CLINICAL -datatype: TIMELINE -data_filename: data_timeline_status.txt \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_timeline_surgery.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_timeline_surgery.txt deleted file mode 100644 index aa30e503049..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_timeline_surgery.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: CLINICAL -datatype: TIMELINE -data_filename: data_timeline_surgery.txt \ No newline at end of file diff --git a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_timeline_treatment.txt b/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_timeline_treatment.txt deleted file mode 100644 index 58a5f74d938..00000000000 --- a/end-to-end-test/local/studies/lgg_ucsf_2014_test_generic_assay/meta_timeline_treatment.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: lgg_ucsf_2014_test_generic_assay -genetic_alteration_type: CLINICAL -datatype: TIMELINE -data_filename: data_timeline_treatment.txt \ No newline at end of file diff --git a/end-to-end-test/local/studies/study_hg38/case_lists/cases_sequenced.txt b/end-to-end-test/local/studies/study_hg38/case_lists/cases_sequenced.txt deleted file mode 100644 index e7c55106b99..00000000000 --- a/end-to-end-test/local/studies/study_hg38/case_lists/cases_sequenced.txt +++ /dev/null @@ -1,5 +0,0 @@ -cancer_study_identifier: study_hg38 -stable_id: study_hg38_sequenced -case_list_name: Samples profiled for mutations -case_list_description: This is this case list that contains all samples that are profiled for mutations. -case_list_ids: TCGA-A2-A04P-01 diff --git a/end-to-end-test/local/studies/study_hg38/data_clinical_patients.txt b/end-to-end-test/local/studies/study_hg38/data_clinical_patients.txt deleted file mode 100644 index 0748e462261..00000000000 --- a/end-to-end-test/local/studies/study_hg38/data_clinical_patients.txt +++ /dev/null @@ -1,6 +0,0 @@ -#Patient Identifier Overall Survival Status Overall Survival (Months) Disease Free Status Disease Free (Months) -#Patient identifier Overall survival status Overall survival in months since diagnosis Disease free status Disease free in months since treatment -#STRING STRING NUMBER STRING NUMBER -#1 1 1 1 1 -PATIENT_ID OS_STATUS OS_MONTHS DFS_STATUS DFS_MONTHS -TCGA-A2-A04P Recurred/Progressed [Not Available] diff --git a/end-to-end-test/local/studies/study_hg38/data_clinical_samples.txt b/end-to-end-test/local/studies/study_hg38/data_clinical_samples.txt deleted file mode 100644 index 827e9e1a3b6..00000000000 --- a/end-to-end-test/local/studies/study_hg38/data_clinical_samples.txt +++ /dev/null @@ -1,6 +0,0 @@ -#Patient Identifier Sample Identifier Subtype -#Patient identifier Sample identifier Subtype description -#STRING STRING STRING -#1 1 1 -PATIENT_ID SAMPLE_ID SUBTYPE -TCGA-A2-A04P TCGA-A2-A04P-01 basal-like diff --git a/end-to-end-test/local/studies/study_hg38/data_mutations_extended.maf b/end-to-end-test/local/studies/study_hg38/data_mutations_extended.maf deleted file mode 100644 index d4790636180..00000000000 --- a/end-to-end-test/local/studies/study_hg38/data_mutations_extended.maf +++ /dev/null @@ -1,3 +0,0 @@ -#version 2.4 -Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer MA:FImpact MA:FIS Amino_Acid_Change MA:link.MSA MA:link.PDB MA:link.var Tumor_Sample_UUID Matched_Norm_Sample_UUID HGVSc HGVSp HGVSp_Short Transcript_ID Exon_Number t_depth t_ref_count t_alt_count n_depth n_ref_count n_alt_count all_effects Allele Gene Feature Feature_type Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation ALLELE_NUM DISTANCE SYMBOL SYMBOL_SOURCE HGNC_ID BIOTYPE CANONICAL CCDS ENSP SWISSPROT TREMBL UNIPARC RefSeq SIFT PolyPhen EXON INTRON DOMAINS GMAF AFR_MAF AMR_MAF ASN_MAF EAS_MAF EUR_MAF SAS_MAF AA_MAF EA_MAF CLIN_SIG SOMATIC PUBMED MOTIF_NAME MOTIF_POS HIGH_INF_POS MOTIF_SCORE_CHANGE IMPACT PICK VARIANT_CLASS TSL HGVS_OFFSET PHENO chromosome_name_wu start_wu stop_wu reference_wu variant_wu type_wu gene_name_wu transcript_name_wu transcript_species_wu transcript_source_wu transcript_version_wu strand_wu transcript_status_wu trv_type_wu c_position_wu amino_acid_change_wu ucsc_cons_wu domain_wu all_domains_wu deletion_substructures_wu transcript_error_wu default_gene_name_wu gene_name_source_wu ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf evs_ea evs_aa evs_all chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU EVS_EA EVS_AA EVS_All cbp_driver cbp_driver_annotation cbp_driver_tiers cbp_driver_tiers_annotation -BRCA2 genome.wustl.edu GRCh38 13 108106474 108106474 0 Nonsense_Mutation SNP T T C TCGA-A2-A04P-01 TCGA-A2-A04P-10 Somatic p.D191G BRCA2_HUMAN diff --git a/end-to-end-test/local/studies/study_hg38/meta_clinical_patients.txt b/end-to-end-test/local/studies/study_hg38/meta_clinical_patients.txt deleted file mode 100644 index 5dafe6a3025..00000000000 --- a/end-to-end-test/local/studies/study_hg38/meta_clinical_patients.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: study_hg38 -genetic_alteration_type: CLINICAL -datatype: PATIENT_ATTRIBUTES -data_filename: data_clinical_patients.txt diff --git a/end-to-end-test/local/studies/study_hg38/meta_clinical_samples.txt b/end-to-end-test/local/studies/study_hg38/meta_clinical_samples.txt deleted file mode 100644 index 181c6385024..00000000000 --- a/end-to-end-test/local/studies/study_hg38/meta_clinical_samples.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: study_hg38 -genetic_alteration_type: CLINICAL -datatype: SAMPLE_ATTRIBUTES -data_filename: data_clinical_samples.txt diff --git a/end-to-end-test/local/studies/study_hg38/meta_mutations_extended.txt b/end-to-end-test/local/studies/study_hg38/meta_mutations_extended.txt deleted file mode 100644 index 6450fbb02d1..00000000000 --- a/end-to-end-test/local/studies/study_hg38/meta_mutations_extended.txt +++ /dev/null @@ -1,9 +0,0 @@ -cancer_study_identifier: study_hg38 -genetic_alteration_type: MUTATION_EXTENDED -datatype: MAF -stable_id: mutations -show_profile_in_analysis_tab: true -profile_description: Mutation data from whole exome sequencing. -profile_name: Mutations -data_filename: data_mutations_extended.maf -swissprot_identifier: name diff --git a/end-to-end-test/local/studies/study_hg38/meta_study.txt b/end-to-end-test/local/studies/study_hg38/meta_study.txt deleted file mode 100644 index 5171caf7365..00000000000 --- a/end-to-end-test/local/studies/study_hg38/meta_study.txt +++ /dev/null @@ -1,9 +0,0 @@ -type_of_cancer: brca -reference_genome: hg38 -cancer_study_identifier: study_hg38 -name: Study HG38 -description: Study that uses HG38 -groups: PUBLIC -short_name: Study HG38 -add_global_case_list: true - diff --git a/end-to-end-test/local/test_data/genesets/study_es_0_genesets.gmt b/end-to-end-test/local/test_data/genesets/study_es_0_genesets.gmt deleted file mode 100644 index 284f17d41a5..00000000000 --- a/end-to-end-test/local/test_data/genesets/study_es_0_genesets.gmt +++ /dev/null @@ -1,7 +0,0 @@ -GO_ACYLGLYCEROL_HOMEOSTASIS http://dummy 207 208 -GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS http://dummy 672 673 675 -GO_ANTEROGRADE_AXONAL_TRANSPORT http://dummy 207 472 -GO_APICAL_PROTEIN_LOCALIZATION http://dummy 675 673 -GO_ATP_DEPENDENT_CHROMATIN_REMODELING http://dummy 207 472 208 3265 -GO_CARBOHYDRATE_CATABOLIC_PROCESS http://dummy 207 -GO_CARDIAC_CHAMBER_DEVELOPMENT http://dummy 675 472 diff --git a/end-to-end-test/local/test_data/genesets/study_es_0_supp-genesets.txt b/end-to-end-test/local/test_data/genesets/study_es_0_supp-genesets.txt deleted file mode 100644 index 61d20a5ccf8..00000000000 --- a/end-to-end-test/local/test_data/genesets/study_es_0_supp-genesets.txt +++ /dev/null @@ -1,7 +0,0 @@ -GO_ACYLGLYCEROL_HOMEOSTASIS GO_ACYLGLYCEROL_HOMEOSTASIS Genes associated with ACYLGLYCEROL_HOMEOSTASIS based on gene ontology from C5 (MSigDB) -GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS Genes associated with ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS based on gene ontology from C5 (MSigDB) -GO_ANTEROGRADE_AXONAL_TRANSPORT GO_ANTEROGRADE_AXONAL_TRANSPORT Genes associated with ANTEROGRADE_AXONAL_TRANSPORT based on gene ontology from C5 (MSigDB) -GO_APICAL_PROTEIN_LOCALIZATION GO_APICAL_PROTEIN_LOCALIZATION Genes associated with APICAL_PROTEIN_LOCALIZATION based on gene ontology from C5 (MSigDB) -GO_ATP_DEPENDENT_CHROMATIN_REMODELING GO_ATP_DEPENDENT_CHROMATIN_REMODELING Genes associated with ATP_DEPENDENT_CHROMATIN_REMODELING based on gene ontology from C5 (MSigDB) -GO_CARBOHYDRATE_CATABOLIC_PROCESS GO_CARBOHYDRATE_CATABOLIC_PROCESS Genes associated with CARBOHYDRATE_CATABOLIC_PROCESS based on gene ontology from C5 (MSigDB) -GO_CARDIAC_CHAMBER_DEVELOPMENT GO_CARDIAC_CHAMBER_DEVELOPMENT Genes associated with CARDIAC_CHAMBER_DEVELOPMENT based on gene ontology from C5 (MSigDB) diff --git a/end-to-end-test/local/test_data/genesets/study_es_0_tree.yaml b/end-to-end-test/local/test_data/genesets/study_es_0_tree.yaml deleted file mode 100644 index a06d338ba03..00000000000 --- a/end-to-end-test/local/test_data/genesets/study_es_0_tree.yaml +++ /dev/null @@ -1,13 +0,0 @@ -Custom Gene sets: - Gene sets: - - GO_CARDIAC_CHAMBER_DEVELOPMENT -Different Gene sets from Random Institute: - Gene sets: - - GO_ACYLGLYCEROL_HOMEOSTASIS - - GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS - Institutes Subcategory 1: - Gene sets: - - GO_ATP_DEPENDENT_CHROMATIN_REMODELING - Institutes Subcategory 2: - Gene sets: - - GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS diff --git a/end-to-end-test/local/test_data/study_es_0/case_lists/cases_cna.txt b/end-to-end-test/local/test_data/study_es_0/case_lists/cases_cna.txt deleted file mode 100644 index 57c32924dc5..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/case_lists/cases_cna.txt +++ /dev/null @@ -1,5 +0,0 @@ -cancer_study_identifier: study_es_0 -stable_id: study_es_0_cna -case_list_name: Samples profiled for mutations -case_list_description: This is this case list that contains all samples that are profiled for mutations. -case_list_ids: TCGA-A1-A0SB-01 TCGA-A1-A0SD-01 TCGA-A1-A0SE-01 TCGA-A1-A0SF-01 TCGA-A1-A0SG-01 TCGA-A1-A0SH-01 TCGA-A1-A0SI-01 TCGA-A1-A0SJ-01 TCGA-A1-A0SK-01 TCGA-A1-A0SM-01 TCGA-A1-A0SN-01 TCGA-A1-A0SO-01 TCGA-A1-A0SP-01 TCGA-A1-A0SQ-01 TCGA-A2-A04N-01 TCGA-A2-A04P-01 TCGA-A2-A04Q-01 TCGA-A2-A04R-01 TCGA-A2-A04T-01 TCGA-A2-A04U-01 TCGA-A2-A04V-01 TCGA-A2-A04W-01 TCGA-A2-A04X-01 TCGA-A2-A04Y-01 TCGA-A2-A0CL-01 TCGA-A2-A0CM-01 TCGA-A2-A0CP-01 TCGA-A2-A0CQ-01 TCGA-A2-A0CS-01 TCGA-A2-A0CT-01 TCGA-A2-A0CU-01 TCGA-A2-A0CV-01 TCGA-A2-A0CW-01 TCGA-A2-A0CX-01 TCGA-A2-A0D0-01 TCGA-A2-A0D1-01 TCGA-A2-A0D2-01 TCGA-A2-A0D3-01 TCGA-A2-A0D4-01 TCGA-A2-A0EM-01 TCGA-A2-A0EN-01 TCGA-A2-A0EO-01 TCGA-A2-A0EQ-01 TCGA-A2-A0ER-01 TCGA-A2-A0ES-01 TCGA-A2-A0ET-01 TCGA-A2-A0EU-01 TCGA-A2-A0EV-01 TCGA-A2-A0EW-01 TCGA-A2-A0EX-01 TCGA-A2-A0EY-01 TCGA-A2-A0ST-01 TCGA-A2-A0SU-01 TCGA-A2-A0SV-01 TCGA-A2-A0SW-01 TCGA-A2-A0SX-01 TCGA-A2-A0SY-01 TCGA-A2-A0T0-01 TCGA-A2-A0T1-01 TCGA-A2-A0T2-01 TCGA-A2-A0T3-01 TCGA-A2-A0T4-01 TCGA-A2-A0T5-01 TCGA-A2-A0T6-01 TCGA-A2-A0T7-01 TCGA-A2-A0YC-01 TCGA-A2-A0YD-01 TCGA-A2-A0YE-01 TCGA-A2-A0YF-01 TCGA-A2-A0YG-01 TCGA-A2-A0YH-01 TCGA-A2-A0YI-01 TCGA-A2-A0YJ-01 TCGA-A2-A0YK-01 TCGA-A2-A0YL-01 TCGA-A2-A0YM-01 TCGA-A2-A0YT-01 TCGA-A2-A1FV-01 TCGA-A2-A1FW-01 TCGA-A2-A1FX-01 TCGA-A2-A1FZ-01 TCGA-A2-A1G0-01 TCGA-A2-A1G1-01 TCGA-A2-A1G4-01 TCGA-A2-A1G6-01 TCGA-A2-A259-01 TCGA-A2-A25A-01 TCGA-A2-A25B-01 TCGA-A2-A25C-01 TCGA-A2-A25D-01 TCGA-A2-A25E-01 TCGA-A2-A25F-01 TCGA-A7-A0CD-01 TCGA-A7-A0CE-01 TCGA-A7-A0CG-01 TCGA-A7-A0CH-01 TCGA-A7-A0CJ-01 TCGA-A7-A0D9-01 TCGA-A7-A0DA-01 TCGA-A7-A0DB-01 TCGA-A7-A13D-01 TCGA-A7-A13E-01 TCGA-A7-A13F-01 TCGA-A7-A13G-01 TCGA-A7-A26E-01 TCGA-A7-A26F-01 TCGA-A7-A26G-01 TCGA-A7-A26H-01 TCGA-A7-A26I-01 TCGA-A7-A26J-01 TCGA-A8-A06N-01 TCGA-A8-A06O-01 TCGA-A8-A06P-01 TCGA-A8-A06Q-01 TCGA-A8-A06R-01 TCGA-A8-A06T-01 TCGA-A8-A06U-01 TCGA-A8-A06X-01 TCGA-A8-A06Y-01 TCGA-A8-A06Z-01 TCGA-A8-A075-01 TCGA-A8-A076-01 TCGA-A8-A079-01 TCGA-A8-A07B-01 TCGA-A8-A07E-01 TCGA-A8-A07F-01 TCGA-A8-A07G-01 TCGA-A8-A07I-01 TCGA-A8-A07J-01 TCGA-A8-A07L-01 TCGA-A8-A07O-01 TCGA-A8-A07P-01 TCGA-A8-A07R-01 TCGA-A8-A07S-01 TCGA-A8-A07U-01 TCGA-A8-A07W-01 TCGA-A8-A07Z-01 TCGA-A8-A081-01 TCGA-A8-A082-01 TCGA-A8-A083-01 TCGA-A8-A084-01 TCGA-A8-A085-01 TCGA-A8-A086-01 TCGA-A8-A08A-01 TCGA-A8-A08B-01 TCGA-A8-A08C-01 TCGA-A8-A08F-01 TCGA-A8-A08G-01 TCGA-A8-A08H-01 TCGA-A8-A08I-01 TCGA-A8-A08J-01 TCGA-A8-A08L-01 TCGA-A8-A08O-01 TCGA-A8-A08P-01 TCGA-A8-A08R-01 TCGA-A8-A08S-01 TCGA-A8-A08T-01 TCGA-A8-A08X-01 TCGA-A8-A08Z-01 TCGA-A8-A090-01 TCGA-A8-A091-01 TCGA-A8-A092-01 TCGA-A8-A093-01 TCGA-A8-A094-01 TCGA-A8-A095-01 TCGA-A8-A096-01 TCGA-A8-A097-01 TCGA-A8-A099-01 TCGA-A8-A09A-01 TCGA-A8-A09B-01 TCGA-A8-A09C-01 TCGA-A8-A09D-01 TCGA-A8-A09E-01 TCGA-A8-A09G-01 TCGA-A8-A09I-01 TCGA-A8-A09M-01 TCGA-A8-A09N-01 TCGA-A8-A09Q-01 TCGA-A8-A09R-01 TCGA-A8-A09T-01 TCGA-A8-A09V-01 TCGA-A8-A09W-01 TCGA-A8-A09X-01 TCGA-A8-A09Z-01 TCGA-A8-A0A1-01 TCGA-A8-A0A2-01 TCGA-A8-A0A4-01 TCGA-A8-A0A6-01 TCGA-A8-A0A7-01 TCGA-A8-A0A9-01 TCGA-A8-A0AB-01 TCGA-A8-A0AD-01 TEST-A23C-01 TEST-A23E-01 TEST-A23H-01 TEST-A2B8-01 TEST-A2FB-01 TEST-A2FF-01 TEST-A2FG-01 TCGA-AN-A03X-01 TCGA-AN-A03Y-01 TCGA-AN-A041-01 TCGA-AN-A046-01 TCGA-AN-A049-01 TCGA-AN-A04A-01 TCGA-AN-A04C-01 TCGA-AN-A04D-01 TCGA-AN-A0AJ-01 TCGA-AN-A0AK-01 TCGA-AN-A0AL-01 TCGA-AN-A0AM-01 TCGA-AN-A0AR-01 TCGA-AN-A0AS-01 TCGA-AN-A0AT-01 TCGA-AN-A0FD-01 TCGA-AN-A0FF-01 TCGA-AN-A0FJ-01 TCGA-AN-A0FK-01 TCGA-AN-A0FL-01 TCGA-AN-A0FN-01 TCGA-AN-A0FS-01 TCGA-AN-A0FT-01 TCGA-AN-A0FV-01 TCGA-AN-A0FW-01 TCGA-AN-A0FX-01 TCGA-AN-A0FY-01 TCGA-AN-A0FZ-01 TCGA-AN-A0XL-01 TCGA-AN-A0XN-01 TCGA-AN-A0XO-01 TCGA-AN-A0XR-01 TCGA-AN-A0XS-01 TCGA-AN-A0XT-01 TCGA-AN-A0XU-01 TCGA-AN-A0XV-01 TCGA-AN-A0XW-01 TCGA-AO-A03L-01 TCGA-AO-A03M-01 TCGA-AO-A03N-01 TCGA-AO-A03O-01 TCGA-AO-A03P-01 TCGA-AO-A03R-01 TCGA-AO-A03T-01 TCGA-AO-A03U-01 TCGA-AO-A03V-01 TCGA-AO-A0J2-01 TCGA-AO-A0J3-01 TCGA-AO-A0J4-01 TCGA-AO-A0J5-01 TCGA-AO-A0J6-01 TCGA-AO-A0J7-01 TCGA-AO-A0J8-01 TCGA-AO-A0J9-01 TCGA-AO-A0JA-01 TCGA-AO-A0JB-01 TCGA-AO-A0JC-01 TCGA-AO-A0JD-01 TCGA-AO-A0JE-01 TCGA-AO-A0JF-01 TCGA-AO-A0JG-01 TCGA-AO-A0JI-01 TCGA-AO-A0JJ-01 TCGA-AO-A0JL-01 TCGA-AO-A0JM-01 TCGA-AO-A124-01 TCGA-AO-A125-01 TCGA-AO-A126-01 TCGA-AO-A128-01 TCGA-AO-A129-01 TCGA-AO-A12A-01 TCGA-AO-A12B-01 TCGA-AO-A12D-01 TCGA-AO-A12E-01 TCGA-AO-A12F-01 TCGA-AO-A12G-01 TCGA-AO-A12H-01 TCGA-AO-A1KO-01 TCGA-AO-A1KP-01 TCGA-AO-A1KQ-01 TCGA-AO-A1KR-01 TCGA-AO-A1KS-01 TCGA-AO-A1KT-01 TCGA-AQ-A04H-01 TCGA-AQ-A04J-01 TCGA-AQ-A04L-01 TCGA-AQ-A0Y5-01 TCGA-AQ-A1H2-01 TCGA-AQ-A1H3-01 TCGA-AR-A0TP-01 TCGA-AR-A0TQ-01 TCGA-AR-A0TR-01 TCGA-AR-A0TS-01 TCGA-AR-A0TT-01 TCGA-AR-A0TV-01 TCGA-AR-A0TW-01 TCGA-AR-A0TX-01 TCGA-AR-A0TY-01 TCGA-AR-A0TZ-01 TCGA-AR-A0U0-01 TCGA-AR-A0U1-01 TCGA-AR-A0U2-01 TCGA-AR-A0U3-01 TCGA-AR-A0U4-01 TCGA-AR-A1AH-01 TCGA-AR-A1AI-01 TCGA-AR-A1AJ-01 TCGA-AR-A1AK-01 TCGA-AR-A1AL-01 TCGA-AR-A1AN-01 TCGA-AR-A1AO-01 TCGA-AR-A1AP-01 TCGA-AR-A1AQ-01 TCGA-AR-A1AR-01 TCGA-AR-A1AS-01 TCGA-AR-A1AU-01 TCGA-AR-A1AV-01 TCGA-AR-A1AW-01 TCGA-AR-A1AX-01 TCGA-AR-A1AY-01 TCGA-AR-A24H-01 TCGA-AR-A24K-01 TCGA-AR-A24L-01 TCGA-AR-A24M-01 TCGA-AR-A24N-01 TCGA-AR-A24O-01 TCGA-AR-A24P-01 TCGA-AR-A24Q-01 TCGA-AR-A24R-01 TCGA-AR-A24S-01 TCGA-AR-A24T-01 TCGA-AR-A24U-01 TCGA-AR-A24V-01 TCGA-AR-A24W-01 TCGA-AR-A24X-01 TCGA-AR-A24Z-01 TCGA-AR-A250-01 TCGA-AR-A251-01 TCGA-AR-A252-01 TCGA-AR-A254-01 TCGA-AR-A255-01 TCGA-AR-A256-01 TCGA-B6-A0I2-01 TCGA-B6-A0I5-01 TCGA-B6-A0I9-01 TCGA-B6-A0IA-01 TCGA-B6-A0IB-01 TCGA-B6-A0IC-01 TCGA-B6-A0IE-01 TCGA-B6-A0IH-01 TCGA-B6-A0IJ-01 TCGA-B6-A0IK-01 TCGA-B6-A0IM-01 TCGA-B6-A0IN-01 TCGA-B6-A0IO-01 TCGA-B6-A0IP-01 TCGA-B6-A0IQ-01 TCGA-B6-A0RE-01 TCGA-B6-A0RG-01 TCGA-B6-A0RH-01 TCGA-B6-A0RI-01 TCGA-B6-A0RL-01 TCGA-B6-A0RM-01 TCGA-B6-A0RN-01 TCGA-B6-A0RO-01 TCGA-B6-A0RP-01 TCGA-B6-A0RQ-01 TCGA-B6-A0RS-01 TCGA-B6-A0RT-01 TCGA-B6-A0RU-01 TCGA-B6-A0RV-01 TCGA-B6-A0WS-01 TCGA-B6-A0WT-01 TCGA-B6-A0WV-01 TCGA-B6-A0WW-01 TCGA-B6-A0WX-01 TCGA-B6-A0WY-01 TCGA-B6-A0WZ-01 TCGA-B6-A0X0-01 TCGA-B6-A0X1-01 TCGA-B6-A0X4-01 TCGA-B6-A0X5-01 TCGA-B6-A0X7-01 TCGA-B6-A1KC-01 TCGA-B6-A1KF-01 TCGA-B6-A1KI-01 TCGA-B6-A1KN-01 TCGA-BH-A0AU-01 TCGA-BH-A0AV-01 TCGA-BH-A0AW-01 TCGA-BH-A0AY-01 TCGA-BH-A0AZ-01 TCGA-BH-A0B0-01 TCGA-BH-A0B3-01 TCGA-BH-A0B4-01 TCGA-BH-A0B5-01 TCGA-BH-A0B7-01 TCGA-BH-A0B9-01 TCGA-BH-A0BA-01 TCGA-BH-A0BC-01 TCGA-BH-A0BD-01 TCGA-BH-A0BF-01 TCGA-BH-A0BG-01 TCGA-BH-A0BJ-01 TCGA-BH-A0BL-01 TCGA-BH-A0BM-01 TCGA-BH-A0BO-01 TCGA-BH-A0BP-01 TCGA-BH-A0BQ-01 TCGA-BH-A0BR-01 TCGA-BH-A0BS-01 TCGA-BH-A0BT-01 TCGA-BH-A0BV-01 TCGA-BH-A0BW-01 TCGA-BH-A0BZ-01 TCGA-BH-A0C0-01 TCGA-BH-A0C1-01 TCGA-BH-A0C3-01 TCGA-BH-A0C7-01 TCGA-BH-A0DD-01 TCGA-BH-A0DE-01 TCGA-BH-A0DG-01 TCGA-BH-A0DH-01 TCGA-BH-A0DI-01 TCGA-BH-A0DK-01 TCGA-BH-A0DL-01 TCGA-BH-A0DO-01 TCGA-BH-A0DP-01 TCGA-BH-A0DQ-01 TCGA-BH-A0DS-01 TCGA-BH-A0DT-01 TCGA-BH-A0DV-01 TCGA-BH-A0DX-01 TCGA-BH-A0DZ-01 TCGA-BH-A0E0-01 TCGA-BH-A0E1-01 TCGA-BH-A0E2-01 TCGA-BH-A0E6-01 TCGA-BH-A0E7-01 TCGA-BH-A0E9-01 TCGA-BH-A0EA-01 TCGA-BH-A0EB-01 TCGA-BH-A0EE-01 TCGA-BH-A0EI-01 TCGA-BH-A0GY-01 TCGA-BH-A0GZ-01 TCGA-BH-A0H0-01 TCGA-BH-A0H3-01 TCGA-BH-A0H5-01 TCGA-BH-A0H6-01 TCGA-BH-A0H7-01 TCGA-BH-A0H9-01 TCGA-BH-A0HA-01 TCGA-BH-A0HB-01 TCGA-BH-A0HI-01 TCGA-BH-A0HK-01 TCGA-BH-A0HO-01 TCGA-BH-A0HP-01 TCGA-BH-A0HU-01 TCGA-BH-A0HW-01 TCGA-BH-A0HX-01 TCGA-BH-A0RX-01 TCGA-BH-A0W3-01 TCGA-BH-A0W4-01 TCGA-BH-A0W5-01 TCGA-BH-A0W7-01 TCGA-BH-A0WA-01 TCGA-BH-A18F-01 TCGA-BH-A18G-01 TCGA-BH-A18H-01 TCGA-BH-A18I-01 TCGA-BH-A18J-01 TCGA-BH-A18K-01 TCGA-BH-A18L-01 TCGA-BH-A18M-01 TCGA-BH-A18N-01 TCGA-BH-A18P-01 TCGA-BH-A18Q-01 TCGA-BH-A18R-01 TCGA-BH-A18S-01 TCGA-BH-A18T-01 TCGA-BH-A18U-01 TCGA-BH-A18V-01 TCGA-BH-A1EN-01 TCGA-BH-A1EO-01 TCGA-BH-A1ES-01 TCGA-BH-A1ET-01 TCGA-BH-A1EU-01 TCGA-BH-A1EV-01 TCGA-BH-A1EW-01 TCGA-BH-A1EX-01 TCGA-BH-A1EY-01 TCGA-BH-A1F0-01 TCGA-BH-A1F2-01 TCGA-BH-A1F5-01 TCGA-BH-A1F6-01 TCGA-BH-A1F8-01 TCGA-BH-A1FB-01 TCGA-BH-A1FC-01 TCGA-BH-A1FD-01 TCGA-BH-A1FE-01 TCGA-BH-A1FG-01 TCGA-BH-A1FH-01 TCGA-BH-A1FJ-01 TCGA-BH-A1FL-01 TCGA-BH-A1FM-01 TCGA-BH-A1FN-01 TCGA-BH-A1FR-01 TCGA-BH-A1FU-01 TCGA-BH-A201-01 TCGA-BH-A202-01 TCGA-BH-A203-01 TCGA-BH-A204-01 TCGA-BH-A208-01 TCGA-BH-A209-01 TCGA-BH-A28Q-01 TCGA-C8-A12K-01 TCGA-C8-A12L-01 TCGA-C8-A12M-01 TCGA-C8-A12N-01 TCGA-C8-A12P-01 TCGA-C8-A12Q-01 TCGA-C8-A12T-01 TCGA-C8-A12U-01 TCGA-C8-A12V-01 TCGA-C8-A12W-01 TCGA-C8-A12X-01 TCGA-C8-A12Y-01 TCGA-C8-A12Z-01 TCGA-C8-A130-01 TCGA-C8-A131-01 TCGA-C8-A132-01 TCGA-C8-A133-01 TCGA-C8-A134-01 TCGA-C8-A135-01 TCGA-C8-A137-01 TCGA-C8-A138-01 TCGA-C8-A1HE-01 TCGA-C8-A1HF-01 TCGA-C8-A1HG-01 TCGA-C8-A1HI-01 TCGA-C8-A1HJ-01 TCGA-C8-A1HK-01 TCGA-C8-A1HL-01 TCGA-C8-A1HM-01 TCGA-C8-A1HN-01 TCGA-C8-A1HO-01 TCGA-C8-A26V-01 TCGA-C8-A26W-01 TCGA-C8-A26X-01 TCGA-C8-A26Y-01 TCGA-C8-A26Z-01 TCGA-C8-A273-01 TCGA-C8-A274-01 TCGA-C8-A275-01 TCGA-C8-A278-01 TCGA-C8-A27A-01 TCGA-C8-A27B-01 TCGA-D8-A13Y-01 TCGA-D8-A13Z-01 TCGA-D8-A141-01 TCGA-D8-A142-01 TCGA-D8-A143-01 TCGA-D8-A145-01 TCGA-D8-A146-01 TCGA-D8-A147-01 TCGA-D8-A1J8-01 TCGA-D8-A1J9-01 TCGA-D8-A1JA-01 TCGA-D8-A1JB-01 TCGA-D8-A1JC-01 TCGA-D8-A1JD-01 TCGA-D8-A1JE-01 TCGA-D8-A1JF-01 TCGA-D8-A1JG-01 TCGA-D8-A1JH-01 TCGA-D8-A1JI-01 TCGA-D8-A1JJ-01 TCGA-D8-A1JK-01 TCGA-D8-A1JL-01 TCGA-D8-A1JM-01 TCGA-D8-A1JN-01 TCGA-D8-A1JP-01 TCGA-D8-A1JS-01 TCGA-D8-A1JT-01 TCGA-D8-A1JU-01 TCGA-D8-A1X5-01 TCGA-D8-A1X6-01 TCGA-D8-A1X7-01 TCGA-D8-A1X8-01 TCGA-D8-A1X9-01 TCGA-D8-A1XA-01 TCGA-D8-A1XB-01 TCGA-D8-A1XC-01 TCGA-D8-A1XD-01 TCGA-D8-A1XF-01 TCGA-D8-A1XG-01 TCGA-D8-A1XJ-01 TCGA-D8-A1XK-01 TCGA-D8-A1XL-01 TCGA-D8-A1XM-01 TCGA-D8-A1XO-01 TCGA-D8-A1XQ-01 TCGA-D8-A1XR-01 TCGA-D8-A1XS-01 TCGA-D8-A1XT-01 TCGA-D8-A1XU-01 TCGA-D8-A1XV-01 TCGA-D8-A1XW-01 TCGA-D8-A1XY-01 TCGA-D8-A1XZ-01 TCGA-D8-A1Y0-01 TCGA-D8-A1Y1-01 TCGA-D8-A1Y2-01 TCGA-D8-A1Y3-01 TCGA-D8-A27E-01 TCGA-D8-A27F-01 TCGA-D8-A27G-01 TCGA-D8-A27H-01 TCGA-D8-A27I-01 TCGA-D8-A27K-01 TCGA-D8-A27L-01 TCGA-D8-A27M-01 TCGA-D8-A27N-01 TCGA-D8-A27P-01 TCGA-D8-A27R-01 TCGA-D8-A27T-01 TCGA-D8-A27V-01 TCGA-D8-A27W-01 TCGA-E2-A105-01 TCGA-E2-A107-01 TCGA-E2-A108-01 TCGA-E2-A109-01 TCGA-E2-A10A-01 TCGA-E2-A10B-01 TCGA-E2-A10C-01 TCGA-E2-A10E-01 TCGA-E2-A10F-01 TCGA-E2-A14N-01 TCGA-E2-A14O-01 TCGA-E2-A14P-01 TCGA-E2-A14Q-01 TCGA-E2-A14R-01 TCGA-E2-A14S-01 TCGA-E2-A14V-01 TCGA-E2-A14W-01 TCGA-E2-A14X-01 TCGA-E2-A14Y-01 TCGA-E2-A14Z-01 TCGA-E2-A150-01 TCGA-E2-A152-01 TCGA-E2-A153-01 TCGA-E2-A154-01 TCGA-E2-A155-01 TCGA-E2-A156-01 TCGA-E2-A158-01 TCGA-E2-A159-01 TCGA-E2-A15C-01 TCGA-E2-A15G-01 TCGA-E2-A15H-01 TCGA-E2-A15I-01 TCGA-E2-A15J-01 TCGA-E2-A15L-01 TCGA-E2-A15M-01 TCGA-E2-A15O-01 TCGA-E2-A15P-01 TCGA-E2-A15R-01 TCGA-E2-A1AZ-01 TCGA-E2-A1B0-01 TCGA-E2-A1B1-01 TCGA-E2-A1B4-01 TCGA-E2-A1B5-01 TCGA-E2-A1B6-01 TCGA-E2-A1BC-01 TCGA-E2-A1BD-01 TCGA-E2-A1IE-01 TCGA-E2-A1IF-01 TCGA-E2-A1IG-01 TCGA-E2-A1IH-01 TCGA-E2-A1II-01 TCGA-E2-A1IJ-01 TCGA-E2-A1IK-01 TCGA-E2-A1IL-01 TCGA-E2-A1IN-01 TCGA-E2-A1IO-01 TCGA-E2-A1IU-01 TCGA-E2-A1L6-01 TCGA-E2-A1L7-01 TCGA-E2-A1L8-01 TCGA-E2-A1L9-01 TCGA-E2-A1LA-01 TCGA-E2-A1LB-01 TCGA-E2-A1LG-01 TCGA-E2-A1LH-01 TCGA-E2-A1LI-01 TCGA-E2-A1LK-01 TCGA-E2-A1LL-01 TCGA-E9-A1N3-01 TCGA-E9-A1N4-01 TCGA-E9-A1N5-01 TCGA-E9-A1N6-01 TCGA-E9-A1N8-01 TCGA-E9-A1N9-01 TCGA-E9-A1NA-01 TCGA-E9-A1NC-01 TCGA-E9-A1ND-01 TCGA-E9-A1NE-01 TCGA-E9-A1NF-01 TCGA-E9-A1NG-01 TCGA-E9-A1NH-01 TCGA-E9-A1NI-01 TCGA-E9-A1QZ-01 TCGA-E9-A1R0-01 TCGA-E9-A1R2-01 TCGA-E9-A1R3-01 TCGA-E9-A1R4-01 TCGA-E9-A1R5-01 TCGA-E9-A1R6-01 TCGA-E9-A1R7-01 TCGA-E9-A1RA-01 TCGA-E9-A1RB-01 TCGA-E9-A1RC-01 TCGA-E9-A1RD-01 TCGA-E9-A1RE-01 TCGA-E9-A1RF-01 TCGA-E9-A1RG-01 TCGA-E9-A1RH-01 TCGA-E9-A1RI-01 TCGA-E9-A226-01 TCGA-E9-A227-01 TCGA-E9-A228-01 TCGA-E9-A229-01 TCGA-E9-A22A-01 TCGA-E9-A22B-01 TCGA-E9-A22D-01 TCGA-E9-A22E-01 TCGA-E9-A22G-01 TCGA-E9-A22H-01 TCGA-E9-A243-01 TCGA-E9-A244-01 TCGA-E9-A245-01 TCGA-E9-A247-01 TCGA-E9-A248-01 TCGA-E9-A249-01 TCGA-E9-A24A-01 TCGA-E9-A295-01 TCGA-EW-A1IW-01 TCGA-EW-A1IX-01 TCGA-EW-A1IY-01 TCGA-EW-A1IZ-01 TCGA-EW-A1J1-01 TCGA-EW-A1J2-01 TCGA-EW-A1J3-01 TCGA-EW-A1J5-01 TCGA-EW-A1J6-01 TCGA-EW-A1OV-01 TCGA-EW-A1OW-01 TCGA-EW-A1OX-01 TCGA-EW-A1OY-01 TCGA-EW-A1OZ-01 TCGA-EW-A1P0-01 TCGA-EW-A1P1-01 TCGA-EW-A1P3-01 TCGA-EW-A1P4-01 TCGA-EW-A1P5-01 TCGA-EW-A1P6-01 TCGA-EW-A1P7-01 TCGA-EW-A1P8-01 TCGA-EW-A1PA-01 TCGA-EW-A1PB-01 TCGA-EW-A1PD-01 TCGA-EW-A1PE-01 TCGA-EW-A1PF-01 TCGA-EW-A1PG-01 TCGA-EW-A1PH-01 TCGA-EW-A2FS-01 TCGA-EW-A2FV-01 TCGA-EW-A2FW-01 TCGA-GI-A2C8-01 TEST_SAMPLE_1 TEST_SAMPLE_2 TEST_SAMPLE_3 TEST_SAMPLE_4 TEST_SAMPLE_7 TEST_SAMPLE_8 TEST_SAMPLE_12 TEST_SAMPLE_13 TEST_SAMPLE_14 TEST_SAMPLE_15 \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/case_lists/cases_cnaseq.txt b/end-to-end-test/local/test_data/study_es_0/case_lists/cases_cnaseq.txt deleted file mode 100644 index d7b40ebe9fd..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/case_lists/cases_cnaseq.txt +++ /dev/null @@ -1,5 +0,0 @@ -cancer_study_identifier: study_es_0 -stable_id: study_es_0_cnaseq -case_list_name: Samples profiled for mutations and CNA -case_list_description: This is this case list that contains all samples that are profiled for mutations and CNA. -case_list_ids: TCGA-A1-A0SB-01 TCGA-A1-A0SD-01 TCGA-A1-A0SE-01 TCGA-A1-A0SF-01 TCGA-A1-A0SG-01 TCGA-A1-A0SH-01 TCGA-A1-A0SI-01 TCGA-A1-A0SJ-01 TCGA-A1-A0SK-01 TCGA-A1-A0SM-01 TCGA-A1-A0SN-01 TCGA-A1-A0SO-01 TCGA-A1-A0SP-01 TCGA-A1-A0SQ-01 TCGA-A2-A04N-01 TCGA-A2-A04P-01 TCGA-A2-A04Q-01 TCGA-A2-A04R-01 TCGA-A2-A04T-01 TCGA-A2-A04U-01 TCGA-A2-A04V-01 TCGA-A2-A04W-01 TCGA-A2-A04X-01 TCGA-A2-A04Y-01 TCGA-A2-A0CL-01 TCGA-A2-A0CM-01 TCGA-A2-A0CP-01 TCGA-A2-A0CQ-01 TCGA-A2-A0CS-01 TCGA-A2-A0CT-01 TCGA-A2-A0CU-01 TCGA-A2-A0CV-01 TCGA-A2-A0CW-01 TCGA-A2-A0CX-01 TCGA-A2-A0D0-01 TCGA-A2-A0D1-01 TCGA-A2-A0D2-01 TCGA-A2-A0D3-01 TCGA-A2-A0D4-01 TCGA-A2-A0EM-01 TCGA-A2-A0EN-01 TCGA-A2-A0EO-01 TCGA-A2-A0EQ-01 TCGA-A2-A0ER-01 TCGA-A2-A0ES-01 TCGA-A2-A0ET-01 TCGA-A2-A0EU-01 TCGA-A2-A0EV-01 TCGA-A2-A0EW-01 TCGA-A2-A0EX-01 TCGA-A2-A0EY-01 TCGA-A2-A0ST-01 TCGA-A2-A0SU-01 TCGA-A2-A0SV-01 TCGA-A2-A0SW-01 TCGA-A2-A0SX-01 TCGA-A2-A0SY-01 TCGA-A2-A0T0-01 TCGA-A2-A0T1-01 TCGA-A2-A0T2-01 TCGA-A2-A0T3-01 TCGA-A2-A0T4-01 TCGA-A2-A0T5-01 TCGA-A2-A0T6-01 TCGA-A2-A0T7-01 TCGA-A2-A0YC-01 TCGA-A2-A0YD-01 TCGA-A2-A0YE-01 TCGA-A2-A0YF-01 TCGA-A2-A0YG-01 TCGA-A2-A0YH-01 TCGA-A2-A0YI-01 TCGA-A2-A0YJ-01 TCGA-A2-A0YK-01 TCGA-A2-A0YL-01 TCGA-A2-A0YM-01 TCGA-A2-A0YT-01 TCGA-A2-A1FV-01 TCGA-A2-A1FW-01 TCGA-A2-A1FX-01 TCGA-A2-A1FZ-01 TCGA-A2-A1G0-01 TCGA-A2-A1G1-01 TCGA-A2-A1G4-01 TCGA-A2-A1G6-01 TCGA-A2-A259-01 TCGA-A2-A25A-01 TCGA-A2-A25B-01 TCGA-A2-A25C-01 TCGA-A2-A25D-01 TCGA-A2-A25E-01 TCGA-A2-A25F-01 TCGA-A7-A0CD-01 TCGA-A7-A0CE-01 TCGA-A7-A0CG-01 TCGA-A7-A0CH-01 TCGA-A7-A0CJ-01 TCGA-A7-A0D9-01 TCGA-A7-A0DA-01 TCGA-A7-A0DB-01 TCGA-A7-A13D-01 TCGA-A7-A13E-01 TCGA-A7-A13F-01 TCGA-A7-A13G-01 TCGA-A7-A26E-01 TCGA-A7-A26F-01 TCGA-A7-A26G-01 TCGA-A7-A26H-01 TCGA-A7-A26I-01 TCGA-A7-A26J-01 TCGA-A8-A06N-01 TCGA-A8-A06O-01 TCGA-A8-A06P-01 TCGA-A8-A06Q-01 TCGA-A8-A06R-01 TCGA-A8-A06T-01 TCGA-A8-A06U-01 TCGA-A8-A06X-01 TCGA-A8-A06Y-01 TCGA-A8-A06Z-01 TCGA-A8-A075-01 TCGA-A8-A076-01 TCGA-A8-A079-01 TCGA-A8-A07B-01 TCGA-A8-A07E-01 TCGA-A8-A07F-01 TCGA-A8-A07G-01 TCGA-A8-A07I-01 TCGA-A8-A07J-01 TCGA-A8-A07L-01 TCGA-A8-A07O-01 TCGA-A8-A07P-01 TCGA-A8-A07R-01 TCGA-A8-A07S-01 TCGA-A8-A07U-01 TCGA-A8-A07W-01 TCGA-A8-A07Z-01 TCGA-A8-A081-01 TCGA-A8-A082-01 TCGA-A8-A083-01 TCGA-A8-A084-01 TCGA-A8-A085-01 TCGA-A8-A086-01 TCGA-A8-A08A-01 TCGA-A8-A08B-01 TCGA-A8-A08C-01 TCGA-A8-A08F-01 TCGA-A8-A08G-01 TCGA-A8-A08H-01 TCGA-A8-A08I-01 TCGA-A8-A08J-01 TCGA-A8-A08L-01 TCGA-A8-A08O-01 TCGA-A8-A08P-01 TCGA-A8-A08R-01 TCGA-A8-A08S-01 TCGA-A8-A08T-01 TCGA-A8-A08X-01 TCGA-A8-A08Z-01 TCGA-A8-A090-01 TCGA-A8-A091-01 TCGA-A8-A092-01 TCGA-A8-A093-01 TCGA-A8-A094-01 TCGA-A8-A095-01 TCGA-A8-A096-01 TCGA-A8-A097-01 TCGA-A8-A099-01 TCGA-A8-A09A-01 TCGA-A8-A09B-01 TCGA-A8-A09C-01 TCGA-A8-A09D-01 TCGA-A8-A09E-01 TCGA-A8-A09G-01 TCGA-A8-A09I-01 TCGA-A8-A09M-01 TCGA-A8-A09N-01 TCGA-A8-A09Q-01 TCGA-A8-A09R-01 TCGA-A8-A09T-01 TCGA-A8-A09V-01 TCGA-A8-A09W-01 TCGA-A8-A09X-01 TCGA-A8-A09Z-01 TCGA-A8-A0A1-01 TCGA-A8-A0A2-01 TCGA-A8-A0A4-01 TCGA-A8-A0A6-01 TCGA-A8-A0A7-01 TCGA-A8-A0A9-01 TCGA-A8-A0AB-01 TCGA-A8-A0AD-01 TEST-A23C-01 TEST-A23E-01 TEST-A23H-01 TEST-A2B8-01 TEST-A2FB-01 TEST-A2FF-01 TEST-A2FG-01 TCGA-AN-A03X-01 TCGA-AN-A03Y-01 TCGA-AN-A041-01 TCGA-AN-A046-01 TCGA-AN-A049-01 TCGA-AN-A04A-01 TCGA-AN-A04C-01 TCGA-AN-A04D-01 TCGA-AN-A0AJ-01 TCGA-AN-A0AK-01 TCGA-AN-A0AL-01 TCGA-AN-A0AM-01 TCGA-AN-A0AR-01 TCGA-AN-A0AS-01 TCGA-AN-A0AT-01 TCGA-AN-A0FD-01 TCGA-AN-A0FF-01 TCGA-AN-A0FJ-01 TCGA-AN-A0FK-01 TCGA-AN-A0FL-01 TCGA-AN-A0FN-01 TCGA-AN-A0FS-01 TCGA-AN-A0FT-01 TCGA-AN-A0FV-01 TCGA-AN-A0FW-01 TCGA-AN-A0FX-01 TCGA-AN-A0FY-01 TCGA-AN-A0FZ-01 TCGA-AN-A0XL-01 TCGA-AN-A0XN-01 TCGA-AN-A0XO-01 TCGA-AN-A0XR-01 TCGA-AN-A0XS-01 TCGA-AN-A0XT-01 TCGA-AN-A0XU-01 TCGA-AN-A0XV-01 TCGA-AN-A0XW-01 TCGA-AO-A03L-01 TCGA-AO-A03M-01 TCGA-AO-A03N-01 TCGA-AO-A03O-01 TCGA-AO-A03P-01 TCGA-AO-A03R-01 TCGA-AO-A03T-01 TCGA-AO-A03U-01 TCGA-AO-A03V-01 TCGA-AO-A0J2-01 TCGA-AO-A0J3-01 TCGA-AO-A0J4-01 TCGA-AO-A0J5-01 TCGA-AO-A0J6-01 TCGA-AO-A0J7-01 TCGA-AO-A0J8-01 TCGA-AO-A0J9-01 TCGA-AO-A0JA-01 TCGA-AO-A0JB-01 TCGA-AO-A0JC-01 TCGA-AO-A0JD-01 TCGA-AO-A0JE-01 TCGA-AO-A0JF-01 TCGA-AO-A0JG-01 TCGA-AO-A0JI-01 TCGA-AO-A0JJ-01 TCGA-AO-A0JL-01 TCGA-AO-A0JM-01 TCGA-AO-A124-01 TCGA-AO-A125-01 TCGA-AO-A126-01 TCGA-AO-A128-01 TCGA-AO-A129-01 TCGA-AO-A12A-01 TCGA-AO-A12B-01 TCGA-AO-A12D-01 TCGA-AO-A12E-01 TCGA-AO-A12F-01 TCGA-AO-A12G-01 TCGA-AO-A12H-01 TCGA-AO-A1KO-01 TCGA-AO-A1KP-01 TCGA-AO-A1KQ-01 TCGA-AO-A1KR-01 TCGA-AO-A1KS-01 TCGA-AO-A1KT-01 TCGA-AQ-A04H-01 TCGA-AQ-A04J-01 TCGA-AQ-A04L-01 TCGA-AQ-A0Y5-01 TCGA-AQ-A1H2-01 TCGA-AQ-A1H3-01 TCGA-AR-A0TP-01 TCGA-AR-A0TQ-01 TCGA-AR-A0TR-01 TCGA-AR-A0TS-01 TCGA-AR-A0TT-01 TCGA-AR-A0TV-01 TCGA-AR-A0TW-01 TCGA-AR-A0TX-01 TCGA-AR-A0TY-01 TCGA-AR-A0TZ-01 TCGA-AR-A0U0-01 TCGA-AR-A0U1-01 TCGA-AR-A0U2-01 TCGA-AR-A0U3-01 TCGA-AR-A0U4-01 TCGA-AR-A1AH-01 TCGA-AR-A1AI-01 TCGA-AR-A1AJ-01 TCGA-AR-A1AK-01 TCGA-AR-A1AL-01 TCGA-AR-A1AN-01 TCGA-AR-A1AO-01 TCGA-AR-A1AP-01 TCGA-AR-A1AQ-01 TCGA-AR-A1AR-01 TCGA-AR-A1AS-01 TCGA-AR-A1AU-01 TCGA-AR-A1AV-01 TCGA-AR-A1AW-01 TCGA-AR-A1AX-01 TCGA-AR-A1AY-01 TCGA-AR-A24H-01 TCGA-AR-A24K-01 TCGA-AR-A24L-01 TCGA-AR-A24M-01 TCGA-AR-A24N-01 TCGA-AR-A24O-01 TCGA-AR-A24P-01 TCGA-AR-A24Q-01 TCGA-AR-A24R-01 TCGA-AR-A24S-01 TCGA-AR-A24T-01 TCGA-AR-A24U-01 TCGA-AR-A24V-01 TCGA-AR-A24W-01 TCGA-AR-A24X-01 TCGA-AR-A24Z-01 TCGA-AR-A250-01 TCGA-AR-A251-01 TCGA-AR-A252-01 TCGA-AR-A254-01 TCGA-AR-A255-01 TCGA-AR-A256-01 TCGA-B6-A0I2-01 TCGA-B6-A0I5-01 TCGA-B6-A0I9-01 TCGA-B6-A0IA-01 TCGA-B6-A0IB-01 TCGA-B6-A0IC-01 TCGA-B6-A0IE-01 TCGA-B6-A0IH-01 TCGA-B6-A0IJ-01 TCGA-B6-A0IK-01 TCGA-B6-A0IM-01 TCGA-B6-A0IN-01 TCGA-B6-A0IO-01 TCGA-B6-A0IP-01 TCGA-B6-A0IQ-01 TCGA-B6-A0RE-01 TCGA-B6-A0RG-01 TCGA-B6-A0RH-01 TCGA-B6-A0RI-01 TCGA-B6-A0RL-01 TCGA-B6-A0RM-01 TCGA-B6-A0RN-01 TCGA-B6-A0RO-01 TCGA-B6-A0RP-01 TCGA-B6-A0RQ-01 TCGA-B6-A0RS-01 TCGA-B6-A0RT-01 TCGA-B6-A0RU-01 TCGA-B6-A0RV-01 TCGA-B6-A0WS-01 TCGA-B6-A0WT-01 TCGA-B6-A0WV-01 TCGA-B6-A0WW-01 TCGA-B6-A0WX-01 TCGA-B6-A0WY-01 TCGA-B6-A0WZ-01 TCGA-B6-A0X0-01 TCGA-B6-A0X1-01 TCGA-B6-A0X4-01 TCGA-B6-A0X5-01 TCGA-B6-A0X7-01 TCGA-B6-A1KC-01 TCGA-B6-A1KF-01 TCGA-B6-A1KI-01 TCGA-B6-A1KN-01 TCGA-BH-A0AU-01 TCGA-BH-A0AV-01 TCGA-BH-A0AW-01 TCGA-BH-A0AY-01 TCGA-BH-A0AZ-01 TCGA-BH-A0B0-01 TCGA-BH-A0B3-01 TCGA-BH-A0B4-01 TCGA-BH-A0B5-01 TCGA-BH-A0B7-01 TCGA-BH-A0B9-01 TCGA-BH-A0BA-01 TCGA-BH-A0BC-01 TCGA-BH-A0BD-01 TCGA-BH-A0BF-01 TCGA-BH-A0BG-01 TCGA-BH-A0BJ-01 TCGA-BH-A0BL-01 TCGA-BH-A0BM-01 TCGA-BH-A0BO-01 TCGA-BH-A0BP-01 TCGA-BH-A0BQ-01 TCGA-BH-A0BR-01 TCGA-BH-A0BS-01 TCGA-BH-A0BT-01 TCGA-BH-A0BV-01 TCGA-BH-A0BW-01 TCGA-BH-A0BZ-01 TCGA-BH-A0C0-01 TCGA-BH-A0C1-01 TCGA-BH-A0C3-01 TCGA-BH-A0C7-01 TCGA-BH-A0DD-01 TCGA-BH-A0DE-01 TCGA-BH-A0DG-01 TCGA-BH-A0DH-01 TCGA-BH-A0DI-01 TCGA-BH-A0DK-01 TCGA-BH-A0DL-01 TCGA-BH-A0DO-01 TCGA-BH-A0DP-01 TCGA-BH-A0DQ-01 TCGA-BH-A0DS-01 TCGA-BH-A0DT-01 TCGA-BH-A0DV-01 TCGA-BH-A0DX-01 TCGA-BH-A0DZ-01 TCGA-BH-A0E0-01 TCGA-BH-A0E1-01 TCGA-BH-A0E2-01 TCGA-BH-A0E6-01 TCGA-BH-A0E7-01 TCGA-BH-A0E9-01 TCGA-BH-A0EA-01 TCGA-BH-A0EB-01 TCGA-BH-A0EE-01 TCGA-BH-A0EI-01 TCGA-BH-A0GY-01 TCGA-BH-A0GZ-01 TCGA-BH-A0H0-01 TCGA-BH-A0H3-01 TCGA-BH-A0H5-01 TCGA-BH-A0H6-01 TCGA-BH-A0H7-01 TCGA-BH-A0H9-01 TCGA-BH-A0HA-01 TCGA-BH-A0HB-01 TCGA-BH-A0HI-01 TCGA-BH-A0HK-01 TCGA-BH-A0HO-01 TCGA-BH-A0HP-01 TCGA-BH-A0HU-01 TCGA-BH-A0HW-01 TCGA-BH-A0HX-01 TCGA-BH-A0RX-01 TCGA-BH-A0W3-01 TCGA-BH-A0W4-01 TCGA-BH-A0W5-01 TCGA-BH-A0W7-01 TCGA-BH-A0WA-01 TCGA-BH-A18F-01 TCGA-BH-A18G-01 TCGA-BH-A18H-01 TCGA-BH-A18I-01 TCGA-BH-A18J-01 TCGA-BH-A18K-01 TCGA-BH-A18L-01 TCGA-BH-A18M-01 TCGA-BH-A18N-01 TCGA-BH-A18P-01 TCGA-BH-A18Q-01 TCGA-BH-A18R-01 TCGA-BH-A18S-01 TCGA-BH-A18T-01 TCGA-BH-A18U-01 TCGA-BH-A18V-01 TCGA-BH-A1EN-01 TCGA-BH-A1EO-01 TCGA-BH-A1ES-01 TCGA-BH-A1ET-01 TCGA-BH-A1EU-01 TCGA-BH-A1EV-01 TCGA-BH-A1EW-01 TCGA-BH-A1EX-01 TCGA-BH-A1EY-01 TCGA-BH-A1F0-01 TCGA-BH-A1F2-01 TCGA-BH-A1F5-01 TCGA-BH-A1F6-01 TCGA-BH-A1F8-01 TCGA-BH-A1FB-01 TCGA-BH-A1FC-01 TCGA-BH-A1FD-01 TCGA-BH-A1FE-01 TCGA-BH-A1FG-01 TCGA-BH-A1FH-01 TCGA-BH-A1FJ-01 TCGA-BH-A1FL-01 TCGA-BH-A1FM-01 TCGA-BH-A1FN-01 TCGA-BH-A1FR-01 TCGA-BH-A1FU-01 TCGA-BH-A201-01 TCGA-BH-A202-01 TCGA-BH-A203-01 TCGA-BH-A204-01 TCGA-BH-A208-01 TCGA-BH-A209-01 TCGA-BH-A28Q-01 TCGA-C8-A12K-01 TCGA-C8-A12L-01 TCGA-C8-A12M-01 TCGA-C8-A12N-01 TCGA-C8-A12P-01 TCGA-C8-A12Q-01 TCGA-C8-A12T-01 TCGA-C8-A12U-01 TCGA-C8-A12V-01 TCGA-C8-A12W-01 TCGA-C8-A12X-01 TCGA-C8-A12Y-01 TCGA-C8-A12Z-01 TCGA-C8-A130-01 TCGA-C8-A131-01 TCGA-C8-A132-01 TCGA-C8-A133-01 TCGA-C8-A134-01 TCGA-C8-A135-01 TCGA-C8-A137-01 TCGA-C8-A138-01 TCGA-C8-A1HE-01 TCGA-C8-A1HF-01 TCGA-C8-A1HG-01 TCGA-C8-A1HI-01 TCGA-C8-A1HJ-01 TCGA-C8-A1HK-01 TCGA-C8-A1HL-01 TCGA-C8-A1HM-01 TCGA-C8-A1HN-01 TCGA-C8-A1HO-01 TCGA-C8-A26V-01 TCGA-C8-A26W-01 TCGA-C8-A26X-01 TCGA-C8-A26Y-01 TCGA-C8-A26Z-01 TCGA-C8-A273-01 TCGA-C8-A274-01 TCGA-C8-A275-01 TCGA-C8-A278-01 TCGA-C8-A27A-01 TCGA-C8-A27B-01 TCGA-D8-A13Y-01 TCGA-D8-A13Z-01 TCGA-D8-A141-01 TCGA-D8-A142-01 TCGA-D8-A143-01 TCGA-D8-A145-01 TCGA-D8-A146-01 TCGA-D8-A147-01 TCGA-D8-A1J8-01 TCGA-D8-A1J9-01 TCGA-D8-A1JA-01 TCGA-D8-A1JB-01 TCGA-D8-A1JC-01 TCGA-D8-A1JD-01 TCGA-D8-A1JE-01 TCGA-D8-A1JF-01 TCGA-D8-A1JG-01 TCGA-D8-A1JH-01 TCGA-D8-A1JI-01 TCGA-D8-A1JJ-01 TCGA-D8-A1JK-01 TCGA-D8-A1JL-01 TCGA-D8-A1JM-01 TCGA-D8-A1JN-01 TCGA-D8-A1JP-01 TCGA-D8-A1JS-01 TCGA-D8-A1JT-01 TCGA-D8-A1JU-01 TCGA-D8-A1X5-01 TCGA-D8-A1X6-01 TCGA-D8-A1X7-01 TCGA-D8-A1X8-01 TCGA-D8-A1X9-01 TCGA-D8-A1XA-01 TCGA-D8-A1XB-01 TCGA-D8-A1XC-01 TCGA-D8-A1XD-01 TCGA-D8-A1XF-01 TCGA-D8-A1XG-01 TCGA-D8-A1XJ-01 TCGA-D8-A1XK-01 TCGA-D8-A1XL-01 TCGA-D8-A1XM-01 TCGA-D8-A1XO-01 TCGA-D8-A1XQ-01 TCGA-D8-A1XR-01 TCGA-D8-A1XS-01 TCGA-D8-A1XT-01 TCGA-D8-A1XU-01 TCGA-D8-A1XV-01 TCGA-D8-A1XW-01 TCGA-D8-A1XY-01 TCGA-D8-A1XZ-01 TCGA-D8-A1Y0-01 TCGA-D8-A1Y1-01 TCGA-D8-A1Y2-01 TCGA-D8-A1Y3-01 TCGA-D8-A27E-01 TCGA-D8-A27F-01 TCGA-D8-A27G-01 TCGA-D8-A27H-01 TCGA-D8-A27I-01 TCGA-D8-A27K-01 TCGA-D8-A27L-01 TCGA-D8-A27M-01 TCGA-D8-A27N-01 TCGA-D8-A27P-01 TCGA-D8-A27R-01 TCGA-D8-A27T-01 TCGA-D8-A27V-01 TCGA-D8-A27W-01 TCGA-E2-A105-01 TCGA-E2-A107-01 TCGA-E2-A108-01 TCGA-E2-A109-01 TCGA-E2-A10A-01 TCGA-E2-A10B-01 TCGA-E2-A10C-01 TCGA-E2-A10E-01 TCGA-E2-A10F-01 TCGA-E2-A14N-01 TCGA-E2-A14O-01 TCGA-E2-A14P-01 TCGA-E2-A14Q-01 TCGA-E2-A14R-01 TCGA-E2-A14S-01 TCGA-E2-A14V-01 TCGA-E2-A14W-01 TCGA-E2-A14X-01 TCGA-E2-A14Y-01 TCGA-E2-A14Z-01 TCGA-E2-A150-01 TCGA-E2-A152-01 TCGA-E2-A153-01 TCGA-E2-A154-01 TCGA-E2-A155-01 TCGA-E2-A156-01 TCGA-E2-A158-01 TCGA-E2-A159-01 TCGA-E2-A15C-01 TCGA-E2-A15G-01 TCGA-E2-A15H-01 TCGA-E2-A15I-01 TCGA-E2-A15J-01 TCGA-E2-A15L-01 TCGA-E2-A15M-01 TCGA-E2-A15O-01 TCGA-E2-A15P-01 TCGA-E2-A15R-01 TCGA-E2-A1AZ-01 TCGA-E2-A1B0-01 TCGA-E2-A1B1-01 TCGA-E2-A1B4-01 TCGA-E2-A1B5-01 TCGA-E2-A1B6-01 TCGA-E2-A1BC-01 TCGA-E2-A1BD-01 TCGA-E2-A1IE-01 TCGA-E2-A1IF-01 TCGA-E2-A1IG-01 TCGA-E2-A1IH-01 TCGA-E2-A1II-01 TCGA-E2-A1IJ-01 TCGA-E2-A1IK-01 TCGA-E2-A1IL-01 TCGA-E2-A1IN-01 TCGA-E2-A1IO-01 TCGA-E2-A1IU-01 TCGA-E2-A1L6-01 TCGA-E2-A1L7-01 TCGA-E2-A1L8-01 TCGA-E2-A1L9-01 TCGA-E2-A1LA-01 TCGA-E2-A1LB-01 TCGA-E2-A1LG-01 TCGA-E2-A1LH-01 TCGA-E2-A1LI-01 TCGA-E2-A1LK-01 TCGA-E2-A1LL-01 TCGA-E9-A1N3-01 TCGA-E9-A1N4-01 TCGA-E9-A1N5-01 TCGA-E9-A1N6-01 TCGA-E9-A1N8-01 TCGA-E9-A1N9-01 TCGA-E9-A1NA-01 TCGA-E9-A1NC-01 TCGA-E9-A1ND-01 TCGA-E9-A1NE-01 TCGA-E9-A1NF-01 TCGA-E9-A1NG-01 TCGA-E9-A1NH-01 TCGA-E9-A1NI-01 TCGA-E9-A1QZ-01 TCGA-E9-A1R0-01 TCGA-E9-A1R2-01 TCGA-E9-A1R3-01 TCGA-E9-A1R4-01 TCGA-E9-A1R5-01 TCGA-E9-A1R6-01 TCGA-E9-A1R7-01 TCGA-E9-A1RA-01 TCGA-E9-A1RB-01 TCGA-E9-A1RC-01 TCGA-E9-A1RD-01 TCGA-E9-A1RE-01 TCGA-E9-A1RF-01 TCGA-E9-A1RG-01 TCGA-E9-A1RH-01 TCGA-E9-A1RI-01 TCGA-E9-A226-01 TCGA-E9-A227-01 TCGA-E9-A228-01 TCGA-E9-A229-01 TCGA-E9-A22A-01 TCGA-E9-A22B-01 TCGA-E9-A22D-01 TCGA-E9-A22E-01 TCGA-E9-A22G-01 TCGA-E9-A22H-01 TCGA-E9-A243-01 TCGA-E9-A244-01 TCGA-E9-A245-01 TCGA-E9-A247-01 TCGA-E9-A248-01 TCGA-E9-A249-01 TCGA-E9-A24A-01 TCGA-E9-A295-01 TCGA-EW-A1IW-01 TCGA-EW-A1IX-01 TCGA-EW-A1IY-01 TCGA-EW-A1IZ-01 TCGA-EW-A1J1-01 TCGA-EW-A1J2-01 TCGA-EW-A1J3-01 TCGA-EW-A1J5-01 TCGA-EW-A1J6-01 TCGA-EW-A1OV-01 TCGA-EW-A1OW-01 TCGA-EW-A1OX-01 TCGA-EW-A1OY-01 TCGA-EW-A1OZ-01 TCGA-EW-A1P0-01 TCGA-EW-A1P1-01 TCGA-EW-A1P3-01 TCGA-EW-A1P4-01 TCGA-EW-A1P5-01 TCGA-EW-A1P6-01 TCGA-EW-A1P7-01 TCGA-EW-A1P8-01 TCGA-EW-A1PA-01 TCGA-EW-A1PB-01 TCGA-EW-A1PD-01 TCGA-EW-A1PE-01 TCGA-EW-A1PF-01 TCGA-EW-A1PG-01 TCGA-EW-A1PH-01 TCGA-EW-A2FS-01 TCGA-EW-A2FV-01 TCGA-EW-A2FW-01 TCGA-GI-A2C8-01 TCGA-B6-A0I6-01 TCGA-BH-A0HL-01 TEST_SAMPLE_1 TEST_SAMPLE_2 TEST_SAMPLE_3 TEST_SAMPLE_4 TEST_SAMPLE_12 TEST_SAMPLE_13 TEST_SAMPLE_14 TEST_SAMPLE_15 \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/case_lists/cases_custom.txt b/end-to-end-test/local/test_data/study_es_0/case_lists/cases_custom.txt deleted file mode 100644 index 107f7180a40..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/case_lists/cases_custom.txt +++ /dev/null @@ -1,5 +0,0 @@ -cancer_study_identifier: study_es_0 -stable_id: study_es_0_custom -case_list_name: this is an optional custom case list -case_list_description: this is an optional custom case list -case_list_ids: TCGA-A1-A0SB-01 TCGA-A1-A0SD-01 TCGA-A1-A0SE-01 TCGA-A1-A0SF-01 TCGA-A1-A0SG-01 TCGA-A1-A0SH-01 TCGA-A1-A0SI-01 TCGA-A1-A0SJ-01 TCGA-A1-A0SK-01 TCGA-A1-A0SM-01 TCGA-A1-A0SN-01 TCGA-A1-A0SO-01 TCGA-A1-A0SP-01 TCGA-A1-A0SQ-01 TCGA-A2-A04N-01 TCGA-A2-A04P-01 TCGA-A2-A04Q-01 TCGA-A2-A04R-01 TCGA-A2-A04T-01 TCGA-A2-A04U-01 TCGA-A2-A04V-01 TCGA-A2-A04W-01 TCGA-A2-A04X-01 TCGA-A2-A04Y-01 TCGA-A2-A0CL-01 TCGA-A2-A0CM-01 TCGA-A2-A0CP-01 TCGA-A2-A0CQ-01 TCGA-A2-A0CS-01 TCGA-A2-A0CT-01 TCGA-A2-A0CU-01 TCGA-A2-A0CV-01 TCGA-A2-A0CW-01 TCGA-A2-A0CX-01 TCGA-A2-A0D0-01 TCGA-A2-A0D1-01 TCGA-A2-A0D2-01 TCGA-A2-A0D3-01 TCGA-A2-A0D4-01 TCGA-A2-A0EM-01 TCGA-A2-A0EN-01 TCGA-A2-A0EO-01 TCGA-A2-A0EQ-01 TCGA-A2-A0ER-01 TCGA-A2-A0ES-01 TCGA-A2-A0ET-01 TCGA-A2-A0EU-01 TCGA-A2-A0EV-01 TCGA-A2-A0EW-01 TCGA-A2-A0EX-01 TCGA-A2-A0EY-01 TCGA-A2-A0ST-01 TCGA-A2-A0SU-01 TCGA-A2-A0SV-01 TCGA-A2-A0SW-01 TCGA-A2-A0SX-01 TCGA-A2-A0SY-01 TCGA-A2-A0T0-01 TCGA-A2-A0T1-01 TCGA-A2-A0T2-01 TCGA-A2-A0T3-01 TCGA-A2-A0T4-01 TCGA-A2-A0T5-01 TCGA-A2-A0T6-01 TCGA-A2-A0T7-01 TCGA-A2-A0YC-01 TCGA-A2-A0YD-01 TCGA-A2-A0YE-01 TCGA-A2-A0YF-01 TCGA-A2-A0YG-01 TCGA-A2-A0YH-01 TCGA-A2-A0YI-01 TCGA-A2-A0YJ-01 TCGA-A2-A0YK-01 TCGA-A2-A0YL-01 TCGA-A2-A0YM-01 TCGA-A2-A0YT-01 TCGA-A2-A1FV-01 TCGA-A2-A1FW-01 TCGA-A2-A1FX-01 TCGA-A2-A1FZ-01 TCGA-A2-A1G0-01 TCGA-A2-A1G1-01 TCGA-A2-A1G4-01 TCGA-A2-A1G6-01 TCGA-A2-A259-01 TCGA-A2-A25A-01 TCGA-A2-A25B-01 TCGA-A2-A25C-01 TCGA-A2-A25D-01 TCGA-A2-A25E-01 TCGA-A2-A25F-01 TCGA-A7-A0CD-01 TCGA-A7-A0CE-01 TCGA-A7-A0CG-01 TCGA-A7-A0CH-01 TCGA-A7-A0CJ-01 TCGA-A7-A0D9-01 TCGA-A7-A0DA-01 TCGA-A7-A0DB-01 TCGA-A7-A13D-01 TCGA-A7-A13E-01 TCGA-A7-A13F-01 TCGA-A7-A13G-01 TCGA-A7-A26E-01 TCGA-A7-A26F-01 TCGA-A7-A26G-01 TCGA-A7-A26H-01 TCGA-A7-A26I-01 TCGA-A7-A26J-01 TCGA-A8-A06N-01 TCGA-A8-A06O-01 TCGA-A8-A06P-01 TCGA-A8-A06Q-01 TCGA-A8-A06R-01 TCGA-A8-A06T-01 TCGA-A8-A06U-01 TCGA-A8-A06X-01 TCGA-A8-A06Y-01 TCGA-A8-A06Z-01 TCGA-A8-A075-01 TCGA-A8-A076-01 TCGA-A8-A079-01 TCGA-A8-A07B-01 TCGA-A8-A07E-01 TCGA-A8-A07F-01 TCGA-A8-A07G-01 TCGA-A8-A07I-01 TCGA-A8-A07J-01 TCGA-A8-A07L-01 TCGA-A8-A07O-01 TCGA-A8-A07P-01 TCGA-A8-A07R-01 TCGA-A8-A07S-01 TCGA-A8-A07U-01 TCGA-A8-A07W-01 TCGA-A8-A07Z-01 TCGA-A8-A081-01 TCGA-A8-A082-01 TCGA-A8-A083-01 TCGA-A8-A084-01 TCGA-A8-A085-01 TCGA-A8-A086-01 TCGA-A8-A08A-01 TCGA-A8-A08B-01 TCGA-A8-A08C-01 TCGA-A8-A08F-01 TCGA-A8-A08G-01 TCGA-A8-A08H-01 TCGA-A8-A08I-01 TCGA-A8-A08J-01 TCGA-A8-A08L-01 TCGA-A8-A08O-01 TCGA-A8-A08P-01 TCGA-A8-A08R-01 TCGA-A8-A08S-01 TCGA-A8-A08T-01 TCGA-A8-A08X-01 TCGA-A8-A08Z-01 TCGA-A8-A090-01 TCGA-A8-A091-01 TCGA-A8-A092-01 TCGA-A8-A093-01 TCGA-A8-A094-01 TCGA-A8-A095-01 TCGA-A8-A096-01 TCGA-A8-A097-01 TCGA-A8-A099-01 TCGA-A8-A09A-01 TCGA-A8-A09B-01 TCGA-A8-A09C-01 TCGA-A8-A09D-01 TCGA-A8-A09E-01 TCGA-A8-A09G-01 TCGA-A8-A09I-01 TCGA-A8-A09M-01 TCGA-A8-A09N-01 TCGA-A8-A09Q-01 TCGA-A8-A09R-01 TCGA-A8-A09T-01 TCGA-A8-A09V-01 TCGA-A8-A09W-01 TCGA-A8-A09X-01 TCGA-A8-A09Z-01 TCGA-A8-A0A1-01 TCGA-A8-A0A2-01 TCGA-A8-A0A4-01 TCGA-A8-A0A6-01 TCGA-A8-A0A7-01 TCGA-A8-A0A9-01 TCGA-A8-A0AB-01 TCGA-A8-A0AD-01 TEST-A23C-01 TEST-A23E-01 TEST-A23H-01 TEST-A2B8-01 TEST-A2FB-01 TEST-A2FF-01 TEST-A2FG-01 TCGA-AN-A03X-01 TCGA-AN-A03Y-01 TCGA-AN-A041-01 TCGA-AN-A046-01 TCGA-AN-A049-01 TCGA-AN-A04A-01 TCGA-AN-A04C-01 TCGA-AN-A04D-01 TCGA-AN-A0AJ-01 TCGA-AN-A0AK-01 TCGA-AN-A0AL-01 TCGA-AN-A0AM-01 TCGA-AN-A0AR-01 TCGA-AN-A0AS-01 TCGA-AN-A0AT-01 TCGA-AN-A0FD-01 TCGA-AN-A0FF-01 TCGA-AN-A0FJ-01 TCGA-AN-A0FK-01 TCGA-AN-A0FL-01 TCGA-AN-A0FN-01 TCGA-AN-A0FS-01 TCGA-AN-A0FT-01 TCGA-AN-A0FV-01 TCGA-AN-A0FW-01 TCGA-AN-A0FX-01 TCGA-AN-A0FY-01 TCGA-AN-A0FZ-01 TCGA-AN-A0XL-01 TCGA-AN-A0XN-01 TCGA-AN-A0XO-01 TCGA-AN-A0XR-01 TCGA-AN-A0XS-01 TCGA-AN-A0XT-01 TCGA-AN-A0XU-01 TCGA-AN-A0XV-01 TCGA-AN-A0XW-01 TCGA-AO-A03L-01 TCGA-AO-A03M-01 TCGA-AO-A03N-01 TCGA-AO-A03O-01 TCGA-AO-A03P-01 TCGA-AO-A03R-01 TCGA-AO-A03T-01 TCGA-AO-A03U-01 TCGA-AO-A03V-01 TCGA-AO-A0J2-01 TCGA-AO-A0J3-01 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TCGA-BH-A1F8-01 TCGA-BH-A1FB-01 TCGA-BH-A1FC-01 TCGA-BH-A1FD-01 TCGA-BH-A1FE-01 TCGA-BH-A1FG-01 TCGA-BH-A1FH-01 TCGA-BH-A1FJ-01 TCGA-BH-A1FL-01 TCGA-BH-A1FM-01 TCGA-BH-A1FN-01 TCGA-BH-A1FR-01 TCGA-BH-A1FU-01 TCGA-BH-A201-01 TCGA-BH-A202-01 TCGA-BH-A203-01 TCGA-BH-A204-01 TCGA-BH-A208-01 TCGA-BH-A209-01 TCGA-BH-A28Q-01 TCGA-C8-A12K-01 TCGA-C8-A12L-01 TCGA-C8-A12M-01 TCGA-C8-A12N-01 TCGA-C8-A12P-01 TCGA-C8-A12Q-01 TCGA-C8-A12T-01 TCGA-C8-A12U-01 TCGA-C8-A12V-01 TCGA-C8-A12W-01 TCGA-C8-A12X-01 TCGA-C8-A12Y-01 TCGA-C8-A12Z-01 TCGA-C8-A130-01 TCGA-C8-A131-01 TCGA-C8-A132-01 TCGA-C8-A133-01 TCGA-C8-A134-01 TCGA-C8-A135-01 TCGA-C8-A137-01 TCGA-C8-A138-01 TCGA-C8-A1HE-01 TCGA-C8-A1HF-01 TCGA-C8-A1HG-01 TCGA-C8-A1HI-01 TCGA-C8-A1HJ-01 TCGA-C8-A1HK-01 TCGA-C8-A1HL-01 TCGA-C8-A1HM-01 TCGA-C8-A1HN-01 TCGA-C8-A1HO-01 TCGA-C8-A26V-01 TCGA-C8-A26W-01 TCGA-C8-A26X-01 TCGA-C8-A26Y-01 TCGA-C8-A26Z-01 TCGA-C8-A273-01 TCGA-C8-A274-01 TCGA-C8-A275-01 TCGA-C8-A278-01 TCGA-C8-A27A-01 TCGA-C8-A27B-01 TCGA-D8-A13Y-01 TCGA-D8-A13Z-01 TCGA-D8-A141-01 TCGA-D8-A142-01 TCGA-D8-A143-01 TCGA-D8-A145-01 TCGA-D8-A146-01 TCGA-D8-A147-01 TCGA-D8-A1J8-01 TCGA-D8-A1J9-01 TCGA-D8-A1JA-01 TCGA-D8-A1JB-01 TCGA-D8-A1JC-01 TCGA-D8-A1JD-01 TCGA-D8-A1JE-01 TCGA-D8-A1JF-01 TCGA-D8-A1JG-01 TCGA-D8-A1JH-01 TCGA-D8-A1JI-01 TCGA-D8-A1JJ-01 TCGA-D8-A1JK-01 TCGA-D8-A1JL-01 TCGA-D8-A1JM-01 TCGA-D8-A1JN-01 TCGA-D8-A1JP-01 TCGA-D8-A1JS-01 TCGA-D8-A1JT-01 TCGA-D8-A1JU-01 TCGA-D8-A1X5-01 TCGA-D8-A1X6-01 TCGA-D8-A1X7-01 TCGA-D8-A1X8-01 TCGA-D8-A1X9-01 TCGA-D8-A1XA-01 TCGA-D8-A1XB-01 TCGA-D8-A1XC-01 TCGA-D8-A1XD-01 TCGA-D8-A1XF-01 TCGA-D8-A1XG-01 TCGA-D8-A1XJ-01 TCGA-D8-A1XK-01 TCGA-D8-A1XL-01 TCGA-D8-A1XM-01 TCGA-D8-A1XO-01 TCGA-D8-A1XQ-01 TCGA-D8-A1XR-01 TCGA-D8-A1XS-01 TCGA-D8-A1XT-01 TCGA-D8-A1XU-01 TCGA-D8-A1XV-01 TCGA-D8-A1XW-01 TCGA-D8-A1XY-01 TCGA-D8-A1XZ-01 TCGA-D8-A1Y0-01 TCGA-D8-A1Y1-01 TCGA-D8-A1Y2-01 TCGA-D8-A1Y3-01 TCGA-D8-A27E-01 TCGA-D8-A27F-01 TCGA-D8-A27G-01 TCGA-D8-A27H-01 TCGA-D8-A27I-01 TCGA-D8-A27K-01 TCGA-D8-A27L-01 TCGA-D8-A27M-01 TCGA-D8-A27N-01 TCGA-D8-A27P-01 TCGA-D8-A27R-01 TCGA-D8-A27T-01 TCGA-D8-A27V-01 TCGA-D8-A27W-01 TCGA-E2-A105-01 TCGA-E2-A107-01 TCGA-E2-A108-01 TCGA-E2-A109-01 TCGA-E2-A10A-01 TCGA-E2-A10B-01 TCGA-E2-A10C-01 TCGA-E2-A10E-01 TCGA-E2-A10F-01 TCGA-E2-A14N-01 TCGA-E2-A14O-01 TCGA-E2-A14P-01 TCGA-E2-A14Q-01 TCGA-E2-A14R-01 TCGA-E2-A14S-01 TCGA-E2-A14V-01 TCGA-E2-A14W-01 TCGA-E2-A14X-01 TCGA-E2-A14Y-01 TCGA-E2-A14Z-01 TCGA-E2-A150-01 TCGA-E2-A152-01 TCGA-E2-A153-01 TCGA-E2-A154-01 TCGA-E2-A155-01 TCGA-E2-A156-01 TCGA-E2-A158-01 TCGA-E2-A159-01 TCGA-E2-A15C-01 TCGA-E2-A15G-01 TCGA-E2-A15H-01 TCGA-E2-A15I-01 TCGA-E2-A15J-01 TCGA-E2-A15L-01 TCGA-E2-A15M-01 TCGA-E2-A15O-01 TCGA-E2-A15P-01 TCGA-E2-A15R-01 TCGA-E2-A1AZ-01 TCGA-E2-A1B0-01 TCGA-E2-A1B1-01 TCGA-E2-A1B4-01 TCGA-E2-A1B5-01 TCGA-E2-A1B6-01 TCGA-E2-A1BC-01 TCGA-E2-A1BD-01 TCGA-E2-A1IE-01 TCGA-E2-A1IF-01 TCGA-E2-A1IG-01 TCGA-E2-A1IH-01 TCGA-E2-A1II-01 TCGA-E2-A1IJ-01 TCGA-E2-A1IK-01 TCGA-E2-A1IL-01 TCGA-E2-A1IN-01 TCGA-E2-A1IO-01 TCGA-E2-A1IU-01 TCGA-E2-A1L6-01 TCGA-E2-A1L7-01 TCGA-E2-A1L8-01 TCGA-E2-A1L9-01 TCGA-E2-A1LA-01 TCGA-E2-A1LB-01 TCGA-E2-A1LG-01 TCGA-E2-A1LH-01 TCGA-E2-A1LI-01 TCGA-E2-A1LK-01 TCGA-E2-A1LL-01 TCGA-E9-A1N3-01 TCGA-E9-A1N4-01 TCGA-E9-A1N5-01 TCGA-E9-A1N6-01 TCGA-E9-A1N8-01 TCGA-E9-A1N9-01 TCGA-E9-A1NA-01 TCGA-E9-A1NC-01 TCGA-E9-A1ND-01 TCGA-E9-A1NE-01 TCGA-E9-A1NF-01 TCGA-E9-A1NG-01 TCGA-E9-A1NH-01 TCGA-E9-A1NI-01 TCGA-E9-A1QZ-01 TCGA-E9-A1R0-01 TCGA-E9-A1R2-01 TCGA-E9-A1R3-01 TCGA-E9-A1R4-01 TCGA-E9-A1R5-01 TCGA-E9-A1R6-01 TCGA-E9-A1R7-01 TCGA-E9-A1RA-01 TCGA-E9-A1RB-01 TCGA-E9-A1RC-01 TCGA-E9-A1RD-01 TCGA-E9-A1RE-01 TCGA-E9-A1RF-01 TCGA-E9-A1RG-01 TCGA-E9-A1RH-01 TCGA-E9-A1RI-01 TCGA-E9-A226-01 TCGA-E9-A227-01 TCGA-E9-A228-01 TCGA-E9-A229-01 TCGA-E9-A22A-01 TCGA-E9-A22B-01 TCGA-E9-A22D-01 TCGA-E9-A22E-01 TCGA-E9-A22G-01 TCGA-E9-A22H-01 TCGA-E9-A243-01 TCGA-E9-A244-01 TCGA-E9-A245-01 TCGA-E9-A247-01 TCGA-E9-A248-01 TCGA-E9-A249-01 TCGA-E9-A24A-01 TCGA-E9-A295-01 TCGA-EW-A1IW-01 TCGA-EW-A1IX-01 TCGA-EW-A1IY-01 TCGA-EW-A1IZ-01 TCGA-EW-A1J1-01 TCGA-EW-A1J2-01 TCGA-EW-A1J3-01 TCGA-EW-A1J5-01 TCGA-EW-A1J6-01 TCGA-EW-A1OV-01 TCGA-EW-A1OW-01 TCGA-EW-A1OX-01 TCGA-EW-A1OY-01 TCGA-EW-A1OZ-01 TCGA-EW-A1P0-01 TCGA-EW-A1P1-01 TCGA-EW-A1P3-01 TCGA-EW-A1P4-01 TCGA-EW-A1P5-01 TCGA-EW-A1P6-01 TCGA-EW-A1P7-01 TCGA-EW-A1P8-01 TCGA-EW-A1PA-01 TCGA-EW-A1PB-01 TCGA-EW-A1PD-01 TCGA-EW-A1PE-01 TCGA-EW-A1PF-01 TCGA-EW-A1PG-01 TCGA-EW-A1PH-01 TCGA-EW-A2FS-01 TCGA-EW-A2FV-01 TCGA-EW-A2FW-01 TCGA-GI-A2C8-01 diff --git a/end-to-end-test/local/test_data/study_es_0/case_lists/cases_sequenced.txt b/end-to-end-test/local/test_data/study_es_0/case_lists/cases_sequenced.txt deleted file mode 100644 index 35914653edb..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/case_lists/cases_sequenced.txt +++ /dev/null @@ -1,5 +0,0 @@ -cancer_study_identifier: study_es_0 -stable_id: study_es_0_sequenced -case_list_name: Samples profiled for mutations -case_list_description: This is this case list that contains all samples that are profiled for mutations. -case_list_ids: TCGA-A1-A0SB-01 TCGA-A1-A0SB-02 TCGA-A1-A0SK-01 TCGA-A2-A04P-01 TCGA-A2-A0CM-01 TCGA-AR-A1AR-01 TCGA-B6-A0I6-01 TCGA-B6-A0WX-01 TCGA-BH-A0E0-01 TCGA-BH-A0HL-01 TCGA-BH-A18K-01 TCGA-BH-A18V-01 TCGA-BH-A1F0-01 TCGA-GI-A2C8-01 TEST_SAMPLE_1 TEST_SAMPLE_2 TEST_SAMPLE_3 TEST_SAMPLE_4 TEST_SAMPLE_5 TEST_SAMPLE_6 TEST_SAMPLE_10 TEST_SAMPLE_11 TEST_SAMPLE_12 TEST_SAMPLE_13 TEST_SAMPLE_14 TEST_SAMPLE_15 TEST-A2B8-01 TEST-A2FF-01 TEST_SAMPLE_SOMATIC_HOMOZYGOUS TEST_SAMPLE_SOMATIC_HETEROZYGOUS TEST_SAMPLE_SOMATIC_UNDEFINED diff --git a/end-to-end-test/local/test_data/study_es_0/case_lists/cases_test.txt b/end-to-end-test/local/test_data/study_es_0/case_lists/cases_test.txt deleted file mode 100644 index e516ddbeb10..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/case_lists/cases_test.txt +++ /dev/null @@ -1,5 +0,0 @@ -cancer_study_identifier: study_es_0 -stable_id: study_es_0_testprofiled -case_list_name: Test profiled samples -case_list_description: This case lists to test functionality of profiled/gene panels for mutations, fusions and CNA -case_list_ids: TEST_SAMPLE_1 TEST_SAMPLE_2 TEST_SAMPLE_3 TEST_SAMPLE_4 TEST_SAMPLE_5 TEST_SAMPLE_6 TEST_SAMPLE_7 TEST_SAMPLE_8 TEST_SAMPLE_9 TEST_SAMPLE_10 TEST_SAMPLE_11 TEST_SAMPLE_12 TEST_SAMPLE_13 TEST_SAMPLE_14 TEST_SAMPLE_15 \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/data_cancer_type.txt b/end-to-end-test/local/test_data/study_es_0/data_cancer_type.txt deleted file mode 100644 index 3af23f98dc7..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_cancer_type.txt +++ /dev/null @@ -1 +0,0 @@ -brca-es0 Breast Invasive Carcinoma HotPink Breast diff --git a/end-to-end-test/local/test_data/study_es_0/data_clinical_patients.txt b/end-to-end-test/local/test_data/study_es_0/data_clinical_patients.txt deleted file mode 100644 index fd11fe095c6..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_clinical_patients.txt +++ /dev/null @@ -1,846 +0,0 @@ -#Patient Identifier Overall Survival Status Overall Survival (Months) Disease Free Status Disease Free (Months) -#Patient identifier Overall survival status Overall survival in months since diagnosis Disease free status Disease free in months since treatment -#STRING STRING NUMBER STRING NUMBER -#1 1 1 1 1 -PATIENT_ID OS_STATUS OS_MONTHS DFS_STATUS DFS_MONTHS -TCGA-A2-A04P 1:Recurred/Progressed [Not Available] -TCGA-A1-A0SK 1:DECEASED 31.77 [Not Available] -TCGA-A2-A0CM 1:DECEASED 24.77 1:Recurred/Progressed [Not Available] -TCGA-AR-A1AR 1:DECEASED 17.18 [Not Available] [Not Available] -TCGA-B6-A0WX 1:DECEASED 21.45 1:Recurred/Progressed [Not Available] -TCGA-BH-A1F0 1:DECEASED 25.79 1:Recurred/Progressed [Not Available] -TCGA-B6-A0I6 1:DECEASED 32.56 1:Recurred/Progressed [Not Available] -TCGA-BH-A18V 1:DECEASED 51.09 [Not Available] [Not Available] -TCGA-BH-A18Q 1:DECEASED 55.59 [Not Available] [Not Available] -TCGA-BH-A18K 1:DECEASED 90.74 1:Recurred/Progressed [Not Available] -TCGA-BH-A0HL 0:LIVING 2.37 0:DiseaseFree 2.37 -TCGA-BH-A0E0 0:LIVING 4.37 0:DiseaseFree 4.37 -TCGA-BH-A0RX 0:LIVING 5.59 0:DiseaseFree 5.59 -TCGA-A7-A13D 0:LIVING 8.77 0:DiseaseFree 8.77 -TCGA-BH-A0E6 0:LIVING 9.59 0:DiseaseFree 9.59 -TCGA-AO-A0J4 0:LIVING 9.66 0:DiseaseFree 9.66 -TCGA-A7-A0CE 0:LIVING 8.31 0:DiseaseFree 8.31 -TCGA-A7-A13E 0:LIVING 9.43 0:DiseaseFree 9.43 -TCGA-A7-A0DA 0:LIVING 12.25 0:DiseaseFree 12.25 -TCGA-D8-A142 0:LIVING 2 0:DiseaseFree 2 -TCGA-D8-A143 0:LIVING 5.65 0:DiseaseFree 5.65 -TCGA-AQ-A04J 0:LIVING 5.22 0:DiseaseFree 5.22 -TCGA-BH-A0HN 0:LIVING 16.95 0:DiseaseFree 16.95 -TCGA-A2-A0T0 0:LIVING 11.07 0:DiseaseFree 11.07 -TCGA-A2-A0YE 0:LIVING 8.28 0:DiseaseFree 8.28 -TCGA-A2-A0YJ 0:LIVING 10.71 0:DiseaseFree 10.71 -TCGA-A2-A0D0 0:LIVING 21.12 0:DiseaseFree 21.12 -TCGA-A2-A04U 0:LIVING 22.01 0:DiseaseFree 22.01 -TCGA-AO-A0J6 0:LIVING 25.46 0:DiseaseFree 25.46 -TCGA-A2-A0YM 0:LIVING 21.72 0:DiseaseFree 21.72 -TCGA-A2-A0D2 0:LIVING 25 0:DiseaseFree 25 -TCGA-BH-A0B3 0:LIVING 39.52 0:DiseaseFree 39.52 -TCGA-A2-A04Q 0:LIVING 41.89 0:DiseaseFree 41.89 -TCGA-A2-A0SX 0:LIVING 42.32 1:Recurred/Progressed [Not Available] -TCGA-AO-A0JL 0:LIVING 43.33 0:DiseaseFree 43.33 -TCGA-AO-A12F 0:LIVING 48.33 0:DiseaseFree 48.33 -TCGA-BH-A0B9 0:LIVING 51.65 0:DiseaseFree 51.65 -TCGA-A2-A04T 0:LIVING 64.06 0:DiseaseFree 64.06 -TCGA-B6-A0RT 0:LIVING 89.39 0:DiseaseFree 89.39 -TCGA-AO-A128 0:LIVING 94.52 0:DiseaseFree 94.52 -TCGA-AO-A129 0:LIVING 96.03 0:DiseaseFree 96.03 -TCGA-AO-A124 0:LIVING 102.47 0:DiseaseFree 102.47 -TCGA-B6-A0RU 0:LIVING 131.12 0:DiseaseFree 131.12 -TCGA-B6-A0IQ 0:LIVING 127.18 0:DiseaseFree 127.18 -TCGA-B6-A0I2 0:LIVING 125.7 0:DiseaseFree 125.7 -TCGA-B6-A0IJ 0:LIVING 176.85 0:DiseaseFree 176.85 -TCGA-B6-A0X1 0:LIVING 186.31 0:DiseaseFree 186.31 -TCGA-B6-A0RE 0:LIVING 211.38 0:DiseaseFree 211.38 -TCGA-A2-A0ST 0:LIVING 53.98 0:DiseaseFree 53.98 -TCGA-AR-A0TP 0:LIVING 78.59 0:DiseaseFree 78.59 -TCGA-A1-A0SO 0:LIVING 27.99 0:DiseaseFree 27.99 -TCGA-A8-A07C 0:LIVING 19.05 0:DiseaseFree 19.05 -TCGA-A8-A07O 0:LIVING 9.99 0:DiseaseFree 9.99 -TCGA-A8-A07R 0:LIVING 8.97 0:DiseaseFree 8.97 -TCGA-A8-A07U 0:LIVING 9.95 0:DiseaseFree 9.95 -TCGA-A8-A08H 0:LIVING 0 0:DiseaseFree 0 -TCGA-A8-A08R 0:LIVING 0.99 0:DiseaseFree 0.99 -TCGA-AN-A04D 0:LIVING 1.71 0:DiseaseFree 1.71 -TCGA-AN-A0AL 0:LIVING 6.47 0:DiseaseFree 6.47 -TCGA-AN-A0AR 0:LIVING 0.3 0:DiseaseFree 0.3 -TCGA-AN-A0AT 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AN-A0FJ 0:LIVING 7.92 0:DiseaseFree 7.92 -TCGA-AN-A0FL 0:LIVING 7.56 0:DiseaseFree 7.56 -TCGA-AN-A0FX 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AN-A0G0 0:LIVING 0.53 0:DiseaseFree 0.53 -TCGA-AN-A0XU 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AR-A0TS 0:LIVING 37.39 0:DiseaseFree 37.39 -TCGA-AR-A0TU 0:LIVING 11.83 0:DiseaseFree 11.83 -TCGA-AR-A0U0 0:LIVING 0.26 0:DiseaseFree 0.26 -TCGA-AR-A0U1 0:LIVING 6.08 0:DiseaseFree 6.08 -TCGA-AR-A0U4 0:LIVING 53.45 0:DiseaseFree 53.45 -TCGA-AR-A1AH 0:LIVING 75.5 0:DiseaseFree 75.5 -TCGA-AR-A1AI 0:LIVING 61.8 0:DiseaseFree 61.8 -TCGA-AR-A1AJ 0:LIVING 52.7 0:DiseaseFree 52.7 -TCGA-AR-A1AQ 0:LIVING 43.01 0:DiseaseFree 43.01 -TCGA-AR-A1AY 0:LIVING 20.17 0:DiseaseFree 20.17 -TCGA-BH-A0AV 0:LIVING 38.77 0:DiseaseFree 38.77 -TCGA-BH-A0BG 0:LIVING 24.84 0:DiseaseFree 24.84 -TCGA-BH-A0BL 0:LIVING 43.99 0:DiseaseFree 43.99 -TCGA-BH-A0BW 0:LIVING 11.66 0:DiseaseFree 11.66 -TCGA-BH-A0DL 0:LIVING 48.2 0:DiseaseFree 48.2 -TCGA-BH-A0WA 0:LIVING 12.22 0:DiseaseFree 12.22 -TCGA-BH-A18G 0:LIVING 2 0:DiseaseFree 2 -TCGA-C8-A12K 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A12V 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A131 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A134 0:LIVING 0 0:DiseaseFree 0 -TCGA-D8-A147 0:LIVING 0.07 0:DiseaseFree 0.07 -TCGA-E2-A14N 0:LIVING 44.35 0:DiseaseFree 44.35 -TCGA-E2-A14R 0:LIVING 27.76 0:DiseaseFree 27.76 -TCGA-E2-A14X 0:LIVING 22.73 0:DiseaseFree 22.73 -TCGA-E2-A14Y 0:LIVING 22.6 0:DiseaseFree 22.6 -TCGA-E2-A150 0:LIVING 19.42 0:DiseaseFree 19.42 -TCGA-E2-A158 0:LIVING 14.78 0:DiseaseFree 14.78 -TCGA-E2-A159 0:LIVING 16.92 0:DiseaseFree 16.92 -TCGA-E2-A1AZ 0:LIVING 64.52 0:DiseaseFree 64.52 -TCGA-E2-A1B5 0:LIVING 25.43 0:DiseaseFree 25.43 -TCGA-A8-A08L 1:DECEASED 9.99 [Not Available] [Not Available] -TCGA-BH-A1EV 1:DECEASED 11.99 1:Recurred/Progressed [Not Available] -TCGA-B6-A0I9 1:DECEASED 12.12 1:Recurred/Progressed [Not Available] -TCGA-A8-A09X 1:DECEASED 14 [Not Available] [Not Available] -TCGA-B6-A0IK 1:DECEASED 18.76 1:Recurred/Progressed [Not Available] -TCGA-BH-A18P 1:DECEASED 30.26 1:Recurred/Progressed [Not Available] -TCGA-A8-A08J 1:DECEASED 37.03 [Not Available] [Not Available] -TCGA-BH-A18R 1:DECEASED 37.49 0:DiseaseFree 36.11 -TCGA-AR-A1AT 1:DECEASED 41.79 [Not Available] [Not Available] -TCGA-B6-A0RS 1:DECEASED 100.6 1:Recurred/Progressed [Not Available] -TCGA-BH-A0DZ 0:LIVING 16.26 0:DiseaseFree 16.26 -TCGA-A2-A0T1 0:LIVING 10.58 0:DiseaseFree 10.58 -TCGA-AO-A0J2 0:LIVING 19.22 0:DiseaseFree 19.22 -TCGA-BH-A0AW 0:LIVING 20.43 0:DiseaseFree 20.43 -TCGA-BH-A0EE 0:LIVING 30.98 0:DiseaseFree 30.98 -TCGA-A2-A0D1 0:LIVING 25.82 0:DiseaseFree 25.82 -TCGA-AO-A03N 0:LIVING 54.04 1:Recurred/Progressed [Not Available] -TCGA-A2-A0CY 0:LIVING 42.32 0:DiseaseFree 42.32 -TCGA-A2-A04X 0:LIVING 44.32 0:DiseaseFree 44.32 -TCGA-A2-A0CX 0:LIVING 42.81 0:DiseaseFree 42.81 -TCGA-A2-A04W 0:LIVING 63.01 0:DiseaseFree 63.01 -TCGA-AO-A12D 0:LIVING 64 0:DiseaseFree 64 -TCGA-A2-A0CL 0:LIVING 60.02 0:DiseaseFree 60.02 -TCGA-AO-A0JE 0:LIVING 64.56 0:DiseaseFree 64.56 -TCGA-A2-A0EQ 0:LIVING 67.45 0:DiseaseFree 67.45 -TCGA-AO-A03L 0:LIVING 80.23 0:DiseaseFree 80.23 -TCGA-B6-A0RH 0:LIVING 188.84 0:DiseaseFree 188.84 -TCGA-A8-A075 0:LIVING 16.99 0:DiseaseFree 16.99 -TCGA-A8-A076 0:LIVING 53.91 0:DiseaseFree 53.91 -TCGA-A8-A07B 0:LIVING 32.98 0:DiseaseFree 32.98 -TCGA-A8-A07I 0:LIVING 14 0:DiseaseFree 14 -TCGA-A8-A081 0:LIVING 0 0:DiseaseFree 0 -TCGA-A8-A08B 0:LIVING 23.06 0:DiseaseFree 23.06 -TCGA-A8-A08X 0:LIVING 33.97 0:DiseaseFree 33.97 -TCGA-A8-A092 0:LIVING 17.02 0:DiseaseFree 17.02 -TCGA-A8-A094 0:LIVING 0 0:DiseaseFree 0 -TCGA-A8-A09G 0:LIVING 0 0:DiseaseFree 0 -TCGA-A8-A0A7 0:LIVING 0.99 0:DiseaseFree 0.99 -TCGA-AN-A04C 0:LIVING 1.77 0:DiseaseFree 1.77 -TCGA-AN-A0FV 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AR-A0TX 0:LIVING 0.49 0:DiseaseFree 0.49 -TCGA-BH-A0B7 0:LIVING 56.93 0:DiseaseFree 56.93 -TCGA-BH-A0HY 0:LIVING 28.48 0:DiseaseFree 28.48 -TCGA-C8-A12L 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A12P 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A12Q 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A12T 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A12Z 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A130 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A135 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A137 0:LIVING 0.1 0:DiseaseFree 0.1 -TCGA-C8-A138 0:LIVING 0.23 0:DiseaseFree 0.23 -TCGA-C8-A1HF 0:LIVING 0 0:DiseaseFree 0 -TCGA-D8-A13Z 0:LIVING 6.9 0:DiseaseFree 6.9 -TCGA-E2-A14P 0:LIVING 16 0:DiseaseFree 16 -TCGA-E2-A14V 0:LIVING 24.57 0:DiseaseFree 24.57 -TCGA-E2-A152 0:LIVING 19.32 1:Recurred/Progressed [Not Available] -TCGA-E2-A1B0 0:LIVING 41.76 0:DiseaseFree 41.76 -TCGA-A2-A0CU 1:DECEASED 5.16 0:DiseaseFree 4.57 -TCGA-AR-A0TR 1:DECEASED 5.26 [Not Available] [Not Available] -TCGA-BH-A18T 1:DECEASED 7.36 1:Recurred/Progressed [Not Available] -TCGA-B6-A0I8 1:DECEASED 24.61 1:Recurred/Progressed [Not Available] -TCGA-B6-A0X4 1:DECEASED 28.22 1:Recurred/Progressed [Not Available] -TCGA-A8-A06U 1:DECEASED 28.98 [Not Available] [Not Available] -TCGA-BH-A0EA 1:DECEASED 32.62 0:DiseaseFree 27.3 -TCGA-BH-A18N 1:DECEASED 37.72 [Not Available] [Not Available] -TCGA-BH-A1EU 1:DECEASED 42.25 0:DiseaseFree [Not Available] -TCGA-B6-A0X7 1:DECEASED 58.84 [Not Available] [Not Available] -TCGA-A2-A04V 1:DECEASED 63.08 1:Recurred/Progressed [Not Available] -TCGA-BH-A18S 1:DECEASED 66 0:DiseaseFree 66 -TCGA-BH-A18M 1:DECEASED 72.51 [Not Available] [Not Available] -TCGA-B6-A0RM 1:DECEASED 77.96 0:DiseaseFree 77.96 -TCGA-BH-A1ET 1:DECEASED 82.79 0:DiseaseFree [Not Available] -TCGA-B6-A0IN 1:DECEASED 84.53 1:Recurred/Progressed [Not Available] -TCGA-BH-A1EO 1:DECEASED 91.92 0:DiseaseFree [Not Available] -TCGA-B6-A0WS 1:DECEASED 97.41 0:DiseaseFree [Not Available] -TCGA-B6-A0RP 1:DECEASED 102.7 [Not Available] [Not Available] -TCGA-B6-A0IH 1:DECEASED 112.29 [Not Available] [Not Available] -TCGA-B6-A0WY 1:DECEASED 113.67 1:Recurred/Progressed [Not Available] -TCGA-BH-A1ES 1:DECEASED 113.74 1:Recurred/Progressed [Not Available] -TCGA-B6-A0X0 1:DECEASED 129.61 [Not Available] [Not Available] -TCGA-B6-A0RQ 1:DECEASED 140.38 0:DiseaseFree [Not Available] -TCGA-B6-A0IG 1:DECEASED 146.39 1:Recurred/Progressed [Not Available] -TCGA-BH-A0HO 0:LIVING 2.5 0:DiseaseFree 2.5 -TCGA-BH-A0DS 0:LIVING 2.53 0:DiseaseFree 2.53 -TCGA-BH-A0DQ 0:LIVING 3.22 0:DiseaseFree 3.22 -TCGA-BH-A0HK 0:LIVING 5.85 0:DiseaseFree 5.85 -TCGA-A7-A0CG 0:LIVING 5.45 0:DiseaseFree 5.45 -TCGA-A7-A0CH 0:LIVING 5.29 0:DiseaseFree 5.29 -TCGA-A7-A0DB 0:LIVING 4.6 0:DiseaseFree 4.6 -TCGA-A7-A0D9 0:LIVING 5.22 0:DiseaseFree 5.22 -TCGA-AO-A0J8 0:LIVING 9.1 0:DiseaseFree 9.1 -TCGA-BH-A0GZ 0:LIVING 10.78 0:DiseaseFree 10.78 -TCGA-AO-A0JA 0:LIVING 11.37 1:Recurred/Progressed [Not Available] -TCGA-AO-A0JF 0:LIVING 11.63 0:DiseaseFree 11.63 -TCGA-A7-A0CD 0:LIVING 5.59 0:DiseaseFree 5.59 -TCGA-D8-A145 0:LIVING 1.61 0:DiseaseFree 1.61 -TCGA-BH-A0HP 0:LIVING 13.6 0:DiseaseFree 13.6 -TCGA-BH-A0DK 0:LIVING 13.9 0:DiseaseFree 13.9 -TCGA-BH-A0E2 0:LIVING 12.35 0:DiseaseFree 12.35 -TCGA-A2-A0YI 0:LIVING 11.76 0:DiseaseFree 11.76 -TCGA-A2-A0YL 0:LIVING 8.8 0:DiseaseFree 8.8 -TCGA-AO-A0JG 0:LIVING 14.75 0:DiseaseFree 14.75 -TCGA-A2-A0YF 0:LIVING 9.49 0:DiseaseFree 9.49 -TCGA-BH-A0DP 0:LIVING 15.64 0:DiseaseFree 15.64 -TCGA-BH-A0E1 0:LIVING 15.67 0:DiseaseFree 15.67 -TCGA-A2-A0T5 0:LIVING 10.55 0:DiseaseFree 10.55 -TCGA-A2-A0T6 0:LIVING 11.3 0:DiseaseFree 11.3 -TCGA-BH-A0HI 0:LIVING 20.34 0:DiseaseFree 20.34 -TCGA-A2-A0T7 0:LIVING 13.04 0:DiseaseFree 13.04 -TCGA-BH-A0BJ 0:LIVING 21.68 0:DiseaseFree 21.68 -TCGA-BH-A0H7 0:LIVING 23.03 0:DiseaseFree 23.03 -TCGA-BH-A0HF 0:LIVING 23.88 0:DiseaseFree 23.88 -TCGA-BH-A0EB 0:LIVING 24.48 0:DiseaseFree 24.48 -TCGA-BH-A0H6 0:LIVING 24.54 0:DiseaseFree 24.54 -TCGA-A2-A0YD 0:LIVING 18.07 0:DiseaseFree 18.07 -TCGA-BH-A0HB 0:LIVING 26.48 0:DiseaseFree 26.48 -TCGA-BH-A0HX 0:LIVING 27.24 0:DiseaseFree 27.24 -TCGA-AO-A12H 0:LIVING 28.32 0:DiseaseFree 28.32 -TCGA-E2-A10E 0:LIVING 13.73 0:DiseaseFree 13.73 -TCGA-A2-A0D3 0:LIVING 24.18 0:DiseaseFree 24.18 -TCGA-E2-A10F 0:LIVING 11.83 0:DiseaseFree 11.83 -TCGA-AO-A03V 0:LIVING 29.11 0:DiseaseFree 29.11 -TCGA-A2-A0EW 0:LIVING 25.3 0:DiseaseFree 25.3 -TCGA-BH-A0GY 0:LIVING 30.13 0:DiseaseFree 30.13 -TCGA-A2-A0EV 0:LIVING 17.91 0:DiseaseFree 17.91 -TCGA-BH-A0BC 0:LIVING 32 0:DiseaseFree 32 -TCGA-A2-A0YC 0:LIVING 21.12 0:DiseaseFree 21.12 -TCGA-A2-A0EU 0:LIVING 24.08 0:DiseaseFree 24.08 -TCGA-A2-A0ET 0:LIVING 26.51 0:DiseaseFree 26.51 -TCGA-A2-A04Y 0:LIVING 25.07 0:DiseaseFree 25.07 -TCGA-BH-A0HQ 0:LIVING 36.83 0:DiseaseFree 36.83 -TCGA-A2-A0ES 0:LIVING 32.89 0:DiseaseFree 32.89 -TCGA-BH-A0BA 0:LIVING 37.19 0:DiseaseFree 37.19 -TCGA-E2-A10B 0:LIVING 24.57 0:DiseaseFree 24.57 -TCGA-BH-A0B1 0:LIVING 37.72 0:DiseaseFree 37.72 -TCGA-BH-A0DH 0:LIVING 37.98 0:DiseaseFree 37.98 -TCGA-BH-A0B4 0:LIVING 39.13 0:DiseaseFree 39.13 -TCGA-BH-A0H9 0:LIVING 40.97 0:DiseaseFree 40.97 -TCGA-AO-A0J9 0:LIVING 41.23 1:Recurred/Progressed [Not Available] -TCGA-AO-A12G 0:LIVING 41.56 0:DiseaseFree 41.56 -TCGA-A2-A0SY 0:LIVING 37.91 0:DiseaseFree 37.91 -TCGA-BH-A0E7 0:LIVING 44.75 0:DiseaseFree 44.75 -TCGA-AO-A03M 0:LIVING 47.8 0:DiseaseFree 47.8 -TCGA-BH-A0BV 0:LIVING 49.9 0:DiseaseFree 49.9 -TCGA-BH-A0B8 0:LIVING 51.55 0:DiseaseFree 51.55 -TCGA-A2-A0CZ 0:LIVING 43.96 0:DiseaseFree 43.96 -TCGA-A2-A0SU 0:LIVING 44.38 0:DiseaseFree 44.38 -TCGA-AO-A12E 0:LIVING 57.23 0:DiseaseFree 57.23 -TCGA-E2-A106 0:LIVING 51.09 0:DiseaseFree 51.09 -TCGA-A2-A0CV 0:LIVING 61.44 0:DiseaseFree 61.44 -TCGA-AO-A12C 0:LIVING 65.48 0:DiseaseFree 65.48 -TCGA-B6-A0RG 0:LIVING 68.4 0:DiseaseFree 68.4 -TCGA-A2-A0CS 0:LIVING 75.5 0:DiseaseFree 75.5 -TCGA-A2-A0EO 0:LIVING 71.65 0:DiseaseFree 71.65 -TCGA-A2-A0CQ 0:LIVING 78.59 0:DiseaseFree 78.59 -TCGA-A2-A0EN 0:LIVING 82.63 0:DiseaseFree 82.63 -TCGA-AO-A12A 0:LIVING 90.48 0:DiseaseFree 90.48 -TCGA-A2-A0CP 0:LIVING 81.97 0:DiseaseFree 81.97 -TCGA-AO-A126 0:LIVING 93.63 0:DiseaseFree 93.63 -TCGA-AO-A125 0:LIVING 99.15 0:DiseaseFree 99.15 -TCGA-A2-A0EM 0:LIVING 90.58 0:DiseaseFree 90.58 -TCGA-A2-A04N 0:LIVING 103.59 0:DiseaseFree 103.59 -TCGA-AQ-A04L 0:LIVING 109.86 0:DiseaseFree 109.86 -TCGA-B6-A0IO 0:LIVING 110.06 0:DiseaseFree 110.06 -TCGA-B6-A0IP 0:LIVING 110.85 0:DiseaseFree 110.85 -TCGA-B6-A0WZ 0:LIVING 129.48 0:DiseaseFree 129.48 -TCGA-B6-A0I5 0:LIVING 149.45 0:DiseaseFree 149.45 -TCGA-B6-A0RV 0:LIVING 157.3 0:DiseaseFree 157.3 -TCGA-B6-A0RO 0:LIVING 161.9 0:DiseaseFree 161.9 -TCGA-B6-A0RN 0:LIVING 172.84 0:DiseaseFree 172.84 -TCGA-B6-A0WT 0:LIVING 177.28 0:DiseaseFree 177.28 -TCGA-B6-A0IA 0:LIVING 220.71 0:DiseaseFree 220.71 -TCGA-B6-A0RI 0:LIVING 223.24 1:Recurred/Progressed [Not Available] -TCGA-A1-A0SE 0:LIVING 43.37 0:DiseaseFree 43.37 -TCGA-A2-A0EX 0:LIVING 18.04 0:DiseaseFree 18.04 -TCGA-AO-A0JJ 0:LIVING 49.67 0:DiseaseFree 49.67 -TCGA-E2-A105 0:LIVING 38.21 0:DiseaseFree 38.21 -TCGA-A1-A0SD 0:LIVING 14.36 0:DiseaseFree 14.36 -TCGA-A1-A0SH 0:LIVING 47.21 0:DiseaseFree 47.21 -TCGA-A1-A0SJ 0:LIVING 14 0:DiseaseFree 14 -TCGA-A8-A06P 0:LIVING 13.01 0:DiseaseFree 13.01 -TCGA-A8-A06T 0:LIVING 41.03 0:DiseaseFree 41.03 -TCGA-A8-A06Y 0:LIVING 25.99 0:DiseaseFree 25.99 -TCGA-A8-A07E 0:LIVING 19.97 0:DiseaseFree 19.97 -TCGA-A8-A07F 0:LIVING 18.92 0:DiseaseFree 18.92 -TCGA-A8-A07G 0:LIVING 18.92 0:DiseaseFree 18.92 -TCGA-A8-A07J 0:LIVING 11.99 0:DiseaseFree 11.99 -TCGA-A8-A07P 0:LIVING 10.97 0:DiseaseFree 10.97 -TCGA-A8-A083 0:LIVING 0 0:DiseaseFree 0 -TCGA-A8-A086 0:LIVING 13.01 0:DiseaseFree 13.01 -TCGA-A8-A08A 0:LIVING 0.99 0:DiseaseFree 0.99 -TCGA-A8-A08C 0:LIVING 19.94 0:DiseaseFree 19.94 -TCGA-A8-A08O 0:LIVING 30.95 0:DiseaseFree 30.95 -TCGA-A8-A08T 0:LIVING 92.97 0:DiseaseFree 92.97 -TCGA-A8-A08Z 0:LIVING 39.98 0:DiseaseFree 39.98 -TCGA-A8-A090 0:LIVING 0 0:DiseaseFree 0 -TCGA-A8-A091 0:LIVING 19.05 0:DiseaseFree 19.05 -TCGA-A8-A093 0:LIVING 17.91 0:DiseaseFree 17.91 -TCGA-A8-A099 0:LIVING 9.99 0:DiseaseFree 9.99 -TCGA-A8-A09A 0:LIVING 9.99 0:DiseaseFree 9.99 -TCGA-A8-A09B 0:LIVING 11.99 0:DiseaseFree 11.99 -TCGA-A8-A09T 0:LIVING 18.99 0:DiseaseFree 18.99 -TCGA-A8-A09V 0:LIVING 15.01 0:DiseaseFree 15.01 -TCGA-A8-A0A1 0:LIVING 11.99 0:DiseaseFree 11.99 -TCGA-A8-A0A2 0:LIVING 18.99 0:DiseaseFree 18.99 -TCGA-A8-A0A4 0:LIVING 13.01 0:DiseaseFree 13.01 -TCGA-A8-A0A6 0:LIVING 21.03 0:DiseaseFree 21.03 -TCGA-A8-A0AD 0:LIVING 38.01 0:DiseaseFree 38.01 -TCGA-AN-A03X 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AN-A046 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AN-A04A 0:LIVING 2.92 0:DiseaseFree 2.92 -TCGA-AN-A0FD 0:LIVING 6.41 0:DiseaseFree 6.41 -TCGA-AN-A0FN 0:LIVING 7.16 0:DiseaseFree 7.16 -TCGA-AN-A0FS 0:LIVING 6.27 0:DiseaseFree 6.27 -TCGA-AN-A0FT 0:LIVING 6.01 0:DiseaseFree 6.01 -TCGA-AN-A0FW 0:LIVING 0.36 0:DiseaseFree 0.36 -TCGA-AN-A0FZ 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AN-A0XL 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AN-A0XN 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AN-A0XO 0:LIVING 12.32 0:DiseaseFree 12.32 -TCGA-AN-A0XP 0:LIVING 0.3 0:DiseaseFree 0.3 -TCGA-AN-A0XS 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AN-A0XT 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AN-A0XV 0:LIVING 5.32 0:DiseaseFree 5.32 -TCGA-AR-A0TW 0:LIVING 24.28 0:DiseaseFree 24.28 -TCGA-AR-A1AK 0:LIVING 51.19 0:DiseaseFree 51.19 -TCGA-AR-A1AL 0:LIVING 48.79 0:DiseaseFree 48.79 -TCGA-AR-A1AN 0:LIVING 43.66 0:DiseaseFree 43.66 -TCGA-AR-A1AP 0:LIVING 39.92 0:DiseaseFree 39.92 -TCGA-AR-A1AS 0:LIVING 40.8 0:DiseaseFree 40.8 -TCGA-AR-A1AU 0:LIVING 46.29 0:DiseaseFree 46.29 -TCGA-AR-A1AW 0:LIVING 35.22 0:DiseaseFree 35.22 -TCGA-AR-A1AX 0:LIVING 36.24 0:DiseaseFree 36.24 -TCGA-BH-A0AZ 0:LIVING 28.48 0:DiseaseFree 28.48 -TCGA-BH-A0B0 0:LIVING 46.88 0:DiseaseFree 46.88 -TCGA-BH-A0BM 0:LIVING 36.7 0:DiseaseFree 36.7 -TCGA-BH-A0BO 0:LIVING 35.65 0:DiseaseFree 35.65 -TCGA-BH-A0BP 0:LIVING 48.66 0:DiseaseFree 48.66 -TCGA-BH-A0BQ 0:LIVING 27.14 0:DiseaseFree 27.14 -TCGA-BH-A0BR 0:LIVING 53.62 0:DiseaseFree 53.62 -TCGA-BH-A0BS 0:LIVING 53.88 0:DiseaseFree 53.88 -TCGA-BH-A0BT 0:LIVING 45.53 0:DiseaseFree 45.53 -TCGA-BH-A0C1 0:LIVING 43.96 0:DiseaseFree 43.96 -TCGA-BH-A0DE 0:LIVING 31.14 0:DiseaseFree 31.14 -TCGA-BH-A0DG 0:LIVING 23.42 0:DiseaseFree 23.42 -TCGA-BH-A0DI 0:LIVING 22.11 0:DiseaseFree 22.11 -TCGA-BH-A0DO 0:LIVING 17.25 0:DiseaseFree 17.25 -TCGA-BH-A0DT 0:LIVING 38.44 0:DiseaseFree 38.44 -TCGA-BH-A0DX 0:LIVING 47.37 0:DiseaseFree 47.37 -TCGA-BH-A0E9 0:LIVING 46.16 0:DiseaseFree 46.16 -TCGA-BH-A0EI 0:LIVING 24.41 0:DiseaseFree 24.41 -TCGA-BH-A0H3 0:LIVING 37.75 0:DiseaseFree 37.75 -TCGA-BH-A0H5 0:LIVING 35.48 0:DiseaseFree 35.48 -TCGA-BH-A0HA 0:LIVING 28.12 0:DiseaseFree 28.12 -TCGA-BH-A0W4 0:LIVING 5.75 0:DiseaseFree 5.75 -TCGA-BH-A0W5 0:LIVING 17.84 0:DiseaseFree 17.84 -TCGA-BH-A0W7 0:LIVING 18.33 0:DiseaseFree 18.33 -TCGA-BH-A18H 0:LIVING 0 0:DiseaseFree 0 -TCGA-BH-A18I 0:LIVING 7.23 0:DiseaseFree 7.23 -TCGA-C8-A12N 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A12O 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A12Y 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A132 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A133 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A1HI 0:LIVING 0.07 0:DiseaseFree 0.07 -TCGA-D8-A141 0:LIVING 3.71 0:DiseaseFree 3.71 -TCGA-E2-A14Q 0:LIVING 32 0:DiseaseFree 32 -TCGA-E2-A14T 0:LIVING 29.24 0:DiseaseFree 29.24 -TCGA-E2-A14Z 0:LIVING 17.02 1:Recurred/Progressed [Not Available] -TCGA-E2-A153 0:LIVING 19.25 0:DiseaseFree 19.25 -TCGA-E2-A154 0:LIVING 10.68 0:DiseaseFree 10.68 -TCGA-E2-A156 0:LIVING 15.8 0:DiseaseFree 15.8 -TCGA-E2-A15C 0:LIVING 16.3 0:DiseaseFree 16.3 -TCGA-E2-A15D 0:LIVING 10.35 0:DiseaseFree 10.35 -TCGA-E2-A15E 0:LIVING 16.99 0:DiseaseFree 16.99 -TCGA-E2-A15F 0:LIVING 15.38 0:DiseaseFree 15.38 -TCGA-E2-A15G 0:LIVING 10.35 0:DiseaseFree 10.35 -TCGA-E2-A15H 0:LIVING 1.38 0:DiseaseFree 1.38 -TCGA-E2-A15I 0:LIVING 13.5 0:DiseaseFree 13.5 -TCGA-E2-A15J 0:LIVING 15.21 0:DiseaseFree 15.21 -TCGA-E2-A15O 0:LIVING 12.98 0:DiseaseFree 12.98 -TCGA-E2-A15P 0:LIVING 10.35 0:DiseaseFree 10.35 -TCGA-E2-A15R 0:LIVING 10.84 0:DiseaseFree 10.84 -TCGA-E2-A1B1 0:LIVING 44.71 0:DiseaseFree 44.71 -TCGA-E2-A1B4 0:LIVING 29.93 0:DiseaseFree 29.93 -TCGA-E2-A1B6 0:LIVING 11.1 0:DiseaseFree 11.1 -TCGA-E2-A1BC 0:LIVING 9.76 0:DiseaseFree 9.76 -TCGA-E2-A1BD 0:LIVING 10.41 0:DiseaseFree 10.41 -TCGA-A2-A0SV 1:DECEASED 27.1 1:Recurred/Progressed [Not Available] -TCGA-AO-A03O 1:DECEASED 81.57 0:DiseaseFree 32.62 -TCGA-A2-A0SW 1:DECEASED 44.81 1:Recurred/Progressed [Not Available] -TCGA-B6-A0WW 1:DECEASED 18.3 1:Recurred/Progressed [Not Available] -TCGA-BH-A18J 1:DECEASED 20.07 1:Recurred/Progressed [Not Available] -TCGA-BH-A18L 1:DECEASED 26.64 [Not Available] [Not Available] -TCGA-A8-A06X 1:DECEASED 30.98 [Not Available] [Not Available] -TCGA-B6-A0IC 1:DECEASED 50.66 [Not Available] [Not Available] -TCGA-BH-A18U 1:DECEASED 51.35 0:DiseaseFree 43.27 -TCGA-BH-A1EW 1:DECEASED 55.65 1:Recurred/Progressed [Not Available] -TCGA-AR-A0TY 1:DECEASED 55.82 [Not Available] [Not Available] -TCGA-B6-A0X5 1:DECEASED 68.89 1:Recurred/Progressed [Not Available] -TCGA-B6-A0WV 1:DECEASED 79.57 0:DiseaseFree 79.57 -TCGA-B6-A0RL 1:DECEASED 81.11 0:DiseaseFree 81.11 -TCGA-AR-A0U2 1:DECEASED 83.81 1:Recurred/Progressed [Not Available] -TCGA-B6-A0IB 1:DECEASED 129.48 1:Recurred/Progressed [Not Available] -TCGA-AO-A0J7 0:LIVING 8.54 0:DiseaseFree 8.54 -TCGA-AO-A0J3 0:LIVING 9.92 0:DiseaseFree 9.92 -TCGA-D8-A13Y 0:LIVING 8.67 0:DiseaseFree 8.67 -TCGA-A7-A13F 0:LIVING 6.44 0:DiseaseFree 6.44 -TCGA-BH-A0HU 0:LIVING 12.88 0:DiseaseFree 12.88 -TCGA-D8-A140 0:LIVING 0.89 0:DiseaseFree 0.89 -TCGA-A7-A0CJ 0:LIVING 6.18 0:DiseaseFree 6.18 -TCGA-AQ-A04H 0:LIVING 14.42 0:DiseaseFree 14.42 -TCGA-BH-A0H0 0:LIVING 15.15 0:DiseaseFree 15.15 -TCGA-BH-A0BD 0:LIVING 18.2 0:DiseaseFree 18.2 -TCGA-A2-A0T3 0:LIVING 14.98 0:DiseaseFree 14.98 -TCGA-A2-A0T4 0:LIVING 12.98 0:DiseaseFree 12.98 -TCGA-A2-A0YH 0:LIVING 12.45 0:DiseaseFree 12.45 -TCGA-A2-A0YG 0:LIVING 13.27 0:DiseaseFree 13.27 -TCGA-A2-A0EY 0:LIVING 15.93 0:DiseaseFree 15.93 -TCGA-A2-A0D4 0:LIVING 16.3 0:DiseaseFree 16.3 -TCGA-BH-A0AY 0:LIVING 25.53 0:DiseaseFree 25.53 -TCGA-E2-A107 0:LIVING 25.07 1:Recurred/Progressed [Not Available] -TCGA-AO-A0JI 0:LIVING 38.5 0:DiseaseFree 38.5 -TCGA-E2-A10C 0:LIVING 28.02 0:DiseaseFree 28.02 -TCGA-E2-A10A 0:LIVING 11.56 1:Recurred/Progressed [Not Available] -TCGA-BH-A0C0 0:LIVING 41.72 0:DiseaseFree 41.72 -TCGA-E2-A109 0:LIVING 38.5 0:DiseaseFree 38.5 -TCGA-AO-A0JC 0:LIVING 50.82 0:DiseaseFree 50.82 -TCGA-BH-A0HW 0:LIVING 51.25 0:DiseaseFree 51.25 -TCGA-AO-A0JD 0:LIVING 59.56 0:DiseaseFree 59.56 -TCGA-AO-A0JM 0:LIVING 59.99 0:DiseaseFree 59.99 -TCGA-A2-A0CW 0:LIVING 57.49 0:DiseaseFree 57.49 -TCGA-A2-A0ER 0:LIVING 62.49 0:DiseaseFree 62.49 -TCGA-A2-A0CT 0:LIVING 62.98 0:DiseaseFree 62.98 -TCGA-AO-A12B 0:LIVING 77.5 0:DiseaseFree 77.5 -TCGA-A2-A04R 0:LIVING 77.67 0:DiseaseFree 77.67 -TCGA-B6-A0IM 0:LIVING 126.03 0:DiseaseFree 126.03 -TCGA-AO-A03P 0:LIVING 84.63 1:Recurred/Progressed [Not Available] -TCGA-A1-A0SM 0:LIVING 7.95 0:DiseaseFree 7.95 -TCGA-A8-A06N 0:LIVING 0 0:DiseaseFree 0 -TCGA-A8-A06O 0:LIVING 13.01 0:DiseaseFree 13.01 -TCGA-A8-A06Q 0:LIVING 1.02 0:DiseaseFree 1.02 -TCGA-A8-A06R 0:LIVING 17.94 0:DiseaseFree 17.94 -TCGA-A8-A06Z 0:LIVING 1.02 0:DiseaseFree 1.02 -TCGA-A8-A079 0:LIVING 9 0:DiseaseFree 9 -TCGA-A8-A07L 0:LIVING 16.99 0:DiseaseFree 16.99 -TCGA-A8-A07S 0:LIVING 7.95 0:DiseaseFree 7.95 -TCGA-A8-A07W 0:LIVING 9.99 0:DiseaseFree 9.99 -TCGA-A8-A07Z 0:LIVING 28.02 0:DiseaseFree 28.02 -TCGA-A8-A082 0:LIVING 18.04 0:DiseaseFree 18.04 -TCGA-A8-A084 0:LIVING 15.05 0:DiseaseFree 15.05 -TCGA-A8-A085 0:LIVING 36.93 0:DiseaseFree 36.93 -TCGA-A8-A08F 0:LIVING 18.04 0:DiseaseFree 18.04 -TCGA-A8-A08G 0:LIVING 19.91 0:DiseaseFree 19.91 -TCGA-A8-A08I 0:LIVING 11.99 0:DiseaseFree 11.99 -TCGA-A8-A08P 0:LIVING 30.95 0:DiseaseFree 30.95 -TCGA-A8-A095 0:LIVING 41.92 0:DiseaseFree 41.92 -TCGA-A8-A096 0:LIVING 0 0:DiseaseFree 0 -TCGA-A8-A097 0:LIVING 11.99 0:DiseaseFree 11.99 -TCGA-A8-A09C 0:LIVING 1.02 0:DiseaseFree 1.02 -TCGA-A8-A09D 0:LIVING 13.01 0:DiseaseFree 13.01 -TCGA-A8-A09I 0:LIVING 33.05 0:DiseaseFree 33.05 -TCGA-A8-A09M 0:LIVING 15.01 0:DiseaseFree 15.01 -TCGA-A8-A09N 0:LIVING 1.02 0:DiseaseFree 1.02 -TCGA-A8-A09Q 0:LIVING 25 0:DiseaseFree 25 -TCGA-A8-A09R 0:LIVING 8.97 0:DiseaseFree 8.97 -TCGA-A8-A09W 0:LIVING 0.99 0:DiseaseFree 0.99 -TCGA-A8-A09Z 0:LIVING 0 0:DiseaseFree 0 -TCGA-A8-A0A9 0:LIVING 13.01 0:DiseaseFree 13.01 -TCGA-A8-A0AB 0:LIVING 16.99 0:DiseaseFree 16.99 -TCGA-AN-A03Y 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AN-A041 0:LIVING 0.23 0:DiseaseFree 0.23 -TCGA-AN-A049 0:LIVING 0.62 0:DiseaseFree 0.62 -TCGA-AN-A0AJ 0:LIVING 7.98 0:DiseaseFree 7.98 -TCGA-AN-A0AK 0:LIVING 7.33 0:DiseaseFree 7.33 -TCGA-AN-A0AM 0:LIVING 0.16 0:DiseaseFree 0.16 -TCGA-AN-A0AS 0:LIVING 0.3 0:DiseaseFree 0.3 -TCGA-AN-A0FF 0:LIVING 4.6 0:DiseaseFree 4.6 -TCGA-AN-A0FK 0:LIVING 6.96 0:DiseaseFree 6.96 -TCGA-AN-A0FY 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AN-A0XR 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-AN-A0XW 0:LIVING 5.59 0:DiseaseFree 5.59 -TCGA-AR-A0TQ 0:LIVING 49.28 0:DiseaseFree 49.28 -TCGA-AR-A0TT 0:LIVING 55.16 0:DiseaseFree 55.16 -TCGA-AR-A0TV 0:LIVING 29.7 0:DiseaseFree 29.7 -TCGA-AR-A0TZ 0:LIVING 43.14 0:DiseaseFree 43.14 -TCGA-AR-A0U3 0:LIVING 74.35 0:DiseaseFree 74.35 -TCGA-AR-A1AV 0:LIVING 42.55 0:DiseaseFree 42.55 -TCGA-BH-A0AU 0:LIVING 24.51 0:DiseaseFree 24.51 -TCGA-BH-A0B5 0:LIVING 48.33 0:DiseaseFree 48.33 -TCGA-BH-A0BF 0:LIVING 25.66 0:DiseaseFree 25.66 -TCGA-BH-A0BZ 0:LIVING 49.02 0:DiseaseFree 49.02 -TCGA-BH-A0C3 0:LIVING 48.1 0:DiseaseFree 48.1 -TCGA-BH-A0C7 0:LIVING 42.87 0:DiseaseFree 42.87 -TCGA-BH-A0DD 0:LIVING 45.76 0:DiseaseFree 45.76 -TCGA-BH-A0W3 0:LIVING 5.91 0:DiseaseFree 5.91 -TCGA-BH-A18F 0:LIVING 8.8 0:DiseaseFree 8.8 -TCGA-C8-A12M 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A12U 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A12W 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A12X 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A1HG 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A1HL 0:LIVING 0.07 0:DiseaseFree 0.07 -TCGA-C8-A1HM 0:LIVING 0.2 0:DiseaseFree 0.2 -TCGA-C8-A1HN 0:LIVING 0.07 0:DiseaseFree 0.07 -TCGA-E2-A14O 0:LIVING 38.5 0:DiseaseFree 38.5 -TCGA-E2-A14S 0:LIVING 27.4 0:DiseaseFree 27.4 -TCGA-E2-A14W 0:LIVING 27.37 0:DiseaseFree 27.37 -TCGA-E2-A155 0:LIVING 18.17 0:DiseaseFree 18.17 -TCGA-E2-A15A 0:LIVING 16.49 0:DiseaseFree 16.49 -TCGA-E2-A15K 0:LIVING 1.12 0:DiseaseFree 1.12 -TCGA-E2-A15L 0:LIVING 10.87 0:DiseaseFree 10.87 -TCGA-E2-A15M 0:LIVING 7.69 0:DiseaseFree 7.69 -TCGA-E2-A15S 0:LIVING 9 0:DiseaseFree 9 -TCGA-E2-A15T 0:LIVING 8.77 0:DiseaseFree 8.77 -TCGA-AO-A03U 1:DECEASED 59 0:DiseaseFree 56.74 -TCGA-B6-A0IE 1:DECEASED 65.64 1:Recurred/Progressed [Not Available] -TCGA-A2-A0YK 0:LIVING 10.97 0:DiseaseFree 10.97 -TCGA-E2-A108 0:LIVING 4.07 0:DiseaseFree 4.07 -TCGA-AO-A0JB 0:LIVING 37.78 0:DiseaseFree 37.78 -TCGA-AO-A03R 0:LIVING 56.08 0:DiseaseFree 56.08 -TCGA-AO-A03T 0:LIVING 39 0:DiseaseFree 39 -TCGA-AR-A1AO 0:LIVING 43.5 0:DiseaseFree 43.5 -TCGA-A2-A0YT 1:DECEASED 23.75 0:DiseaseFree 21.98 -TCGA-AQ-A0Y5 1:DECEASED 5.29 0:DiseaseFree [Not Available] -TCGA-EW-A1P8 1:DECEASED 7.85 1:Recurred/Progressed [Not Available] -TCGA-E2-A1LK 1:DECEASED 8.74 1:Recurred/Progressed [Not Available] -TCGA-BH-A1EY 1:DECEASED 17.68 1:Recurred/Progressed [Not Available] -TCGA-BH-A1F8 1:DECEASED 24.61 1:Recurred/Progressed [Not Available] -TCGA-BH-A1F2 1:DECEASED 31.51 0:DiseaseFree [Not Available] -TCGA-BH-A1FD 1:DECEASED 33.12 1:Recurred/Progressed [Not Available] -TCGA-BH-A1FH 1:DECEASED 36.89 1:Recurred/Progressed [Not Available] -TCGA-BH-A203 [Not Available] [Not Available] [Not Available] [Not Available] -TCGA-BH-A1FM 1:DECEASED 45.6 [Not Available] [Not Available] -TCGA-BH-A1EX 1:DECEASED 49.54 1:Recurred/Progressed [Not Available] -TCGA-BH-A1FL 1:DECEASED 54.96 1:Recurred/Progressed [Not Available] -TCGA-BH-A208 [Not Available] [Not Available] [Not Available] [Not Available] -TCGA-GM-A2D9 1:DECEASED 59.53 1:Recurred/Progressed [Not Available] -TCGA-BH-A1FJ 1:DECEASED 63.31 [Not Available] [Not Available] -TCGA-BH-A1EN 1:DECEASED 67.42 0:DiseaseFree [Not Available] -TCGA-BH-A1FN 1:DECEASED 72.01 1:Recurred/Progressed [Not Available] -TCGA-BH-A1FU 1:DECEASED 72.01 1:Recurred/Progressed [Not Available] -TCGA-BH-A1FE 1:DECEASED 74.68 1:Recurred/Progressed [Not Available] -TCGA-BH-A204 [Not Available] [Not Available] [Not Available] [Not Available] -TCGA-BH-A1F5 1:DECEASED 89.1 0:DiseaseFree [Not Available] -TCGA-AR-A256 1:DECEASED 93.76 [Not Available] [Not Available] -TCGA-BH-A1F6 1:DECEASED 97.41 [Not Available] [Not Available] -TCGA-BH-A1FC 1:DECEASED 114.03 0:DiseaseFree [Not Available] -TCGA-BH-A1FB 1:DECEASED 120.54 1:Recurred/Progressed [Not Available] -TCGA-BH-A1FG 1:DECEASED 122.81 [Not Available] [Not Available] -TCGA-BH-A209 [Not Available] [Not Available] [Not Available] [Not Available] -TCGA-BH-A1FR 1:DECEASED 144.49 1:Recurred/Progressed [Not Available] -TCGA-AO-A1KS 0:LIVING 0.53 0:DiseaseFree 0.53 -TCGA-A7-A13G 0:LIVING 6.83 0:DiseaseFree 6.83 -TCGA-D8-A1JS 0:LIVING 3.45 0:DiseaseFree 3.45 -TCGA-A7-A0DC 0:LIVING 8.97 0:DiseaseFree 8.97 -TCGA-D8-A1JT 0:LIVING 4.04 0:DiseaseFree 4.04 -TCGA-A7-A26E 0:LIVING 13.83 0:DiseaseFree 13.83 -TCGA-D8-A1JH 0:LIVING 9.33 0:DiseaseFree 9.33 -TCGA-D8-A1JU 0:LIVING 3.48 0:DiseaseFree 3.48 -TCGA-AO-A1KO 0:LIVING 14.72 0:DiseaseFree 14.72 -TCGA-AO-A1KT 0:LIVING 17.77 0:DiseaseFree 17.77 -TCGA-AO-A0J5 0:LIVING 24.15 1:Recurred/Progressed [Not Available] -TCGA-B6-A1KC 0:LIVING 43.56 0:DiseaseFree 43.56 -TCGA-AO-A1KQ 0:LIVING 49.9 0:DiseaseFree 49.9 -TCGA-B6-A1KI 0:LIVING 48.06 0:DiseaseFree 48.06 -TCGA-AO-A1KP 0:LIVING 82.56 0:DiseaseFree 82.56 -TCGA-B6-A1KF 0:LIVING 101.45 0:DiseaseFree 101.45 -TCGA-B6-A1KN 0:LIVING 109.4 0:DiseaseFree 109.4 -TCGA-D8-A1XO 0:LIVING 7.95 0:DiseaseFree 7.95 -TCGA-D8-A1XT 0:LIVING 6.34 0:DiseaseFree 6.34 -TCGA-A1-A0SP 0:LIVING 19.15 0:DiseaseFree 19.15 -TCGA-D8-A1J8 0:LIVING 8.41 0:DiseaseFree 8.41 -TCGA-D8-A1JF 0:LIVING 3.15 0:DiseaseFree 3.15 -TCGA-D8-A1JG 0:LIVING 6.14 0:DiseaseFree 6.14 -TCGA-D8-A1XS 0:LIVING 0.59 0:DiseaseFree 0.59 -TCGA-A1-A0SB 0:LIVING 8.51 0:DiseaseFree 8.51 -TCGA-A1-A0SF 0:LIVING 48.06 0:DiseaseFree 48.06 -TCGA-A1-A0SG 0:LIVING 14.23 0:DiseaseFree 14.23 -TCGA-A1-A0SI 0:LIVING 20.83 0:DiseaseFree 20.83 -TCGA-A1-A0SN 0:LIVING 39.29 0:DiseaseFree 39.29 -TCGA-A1-A0SQ 0:LIVING 18.17 0:DiseaseFree 18.17 -TCGA-A2-A1FV 0:LIVING 15.11 0:DiseaseFree 15.11 -TCGA-A2-A1FW 0:LIVING 7.26 0:DiseaseFree 7.26 -TCGA-A2-A1FX 0:LIVING 30.72 0:DiseaseFree 30.72 -TCGA-A2-A1FZ 0:LIVING 13.44 0:DiseaseFree 13.44 -TCGA-A2-A1G0 0:LIVING 12.48 0:DiseaseFree 12.48 -TCGA-A2-A1G1 0:LIVING 12.19 0:DiseaseFree 12.19 -TCGA-A2-A1G4 0:LIVING 12.22 0:DiseaseFree 12.22 -TCGA-A2-A1G6 0:LIVING 4.34 0:DiseaseFree 4.34 -TCGA-A2-A259 0:LIVING 42.22 0:DiseaseFree 42.22 -TCGA-A2-A25A 0:LIVING 97.51 0:DiseaseFree 97.51 -TCGA-A2-A25B 0:LIVING 8.48 0:DiseaseFree 8.48 -TCGA-A2-A25C 0:LIVING 9.36 0:DiseaseFree 9.36 -TCGA-A2-A25D 0:LIVING 7.98 0:DiseaseFree 7.98 -TCGA-A2-A25E 0:LIVING 82.49 0:DiseaseFree 82.49 -TCGA-A2-A25F 0:LIVING 3.71 0:DiseaseFree 3.71 -TCGA-A7-A26F 0:LIVING 8.44 0:DiseaseFree 8.44 -TCGA-A7-A26G 0:LIVING 6.87 0:DiseaseFree 6.87 -TCGA-A7-A26H 0:LIVING 2.1 0:DiseaseFree 2.1 -TCGA-A7-A26I 0:LIVING 4.01 0:DiseaseFree 4.01 -TCGA-A7-A26J 0:LIVING 2.2 1:Recurred/Progressed [Not Available] -TCGA-A8-A08S 0:LIVING 19.05 0:DiseaseFree 19.05 -TCGA-A8-A09E 0:LIVING 30.95 0:DiseaseFree 30.95 -TCGA-A8-A09K 0:LIVING 29.93 0:DiseaseFree 29.93 -TEST-A23C 0:LIVING 0.95 0:DiseaseFree 0.95 -TEST-A23E 0:LIVING 2.37 0:DiseaseFree 2.37 -TEST-A23H 0:LIVING 2.66 0:DiseaseFree 2.66 -TCGA-AO-A1KR 0:LIVING 70.31 0:DiseaseFree 70.31 -TCGA-AQ-A1H2 0:LIVING 6.47 0:DiseaseFree 6.47 -TCGA-AQ-A1H3 0:LIVING 4.53 0:DiseaseFree 4.53 -TCGA-AR-A24H 0:LIVING 109.5 0:DiseaseFree 109.5 -TCGA-AR-A24K 0:LIVING 50.86 0:DiseaseFree 50.86 -TCGA-AR-A24L 0:LIVING 72.97 0:DiseaseFree 72.97 -TCGA-AR-A24M 0:LIVING 65.38 0:DiseaseFree 65.38 -TCGA-AR-A24N 0:LIVING 68.14 0:DiseaseFree 68.14 -TCGA-AR-A24O 0:LIVING 65.61 0:DiseaseFree 65.61 -TCGA-AR-A24P 0:LIVING 0.85 0:DiseaseFree 0.85 -TCGA-AR-A24Q 0:LIVING 65.97 0:DiseaseFree 65.97 -TCGA-AR-A24R 0:LIVING 57.33 0:DiseaseFree 57.33 -TCGA-AR-A24S 0:LIVING 62.03 0:DiseaseFree 62.03 -TCGA-AR-A24T 0:LIVING 53.22 0:DiseaseFree 53.22 -TCGA-AR-A24U 0:LIVING 53.32 0:DiseaseFree 53.32 -TCGA-AR-A24V 0:LIVING 54.14 0:DiseaseFree 54.14 -TCGA-AR-A24X 0:LIVING 48.13 0:DiseaseFree 48.13 -TCGA-AR-A24Z 0:LIVING 51.71 0:DiseaseFree 51.71 -TCGA-AR-A250 0:LIVING 56.08 0:DiseaseFree 56.08 -TCGA-AR-A251 0:LIVING 45.11 0:DiseaseFree 45.11 -TCGA-AR-A252 0:LIVING 40.61 0:DiseaseFree 40.61 -TCGA-AR-A254 0:LIVING 39.82 0:DiseaseFree 39.82 -TCGA-AR-A255 0:LIVING 34.76 0:DiseaseFree 34.76 -TCGA-BH-A0B2 0:LIVING 40.8 0:DiseaseFree 40.8 -TCGA-BH-A0DV 0:LIVING 45.14 0:DiseaseFree 45.14 -TCGA-BH-A201 0:LIVING 6.87 0:DiseaseFree 6.87 -TCGA-BH-A202 0:LIVING 0.72 0:DiseaseFree 0.72 -TCGA-BH-A28Q [Not Available] [Not Available] [Not Available] [Not Available] -TCGA-C8-A1HE 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A1HJ 0:LIVING 0.16 0:DiseaseFree 0.16 -TCGA-C8-A1HK 0:LIVING 0.23 0:DiseaseFree 0.23 -TCGA-C8-A1HO 0:LIVING 0 0:DiseaseFree 0 -TCGA-C8-A26V 0:LIVING 0.3 0:DiseaseFree 0.3 -TCGA-C8-A26W 0:LIVING 0.23 0:DiseaseFree 0.23 -TCGA-C8-A26X 0:LIVING 0.36 0:DiseaseFree 0.36 -TCGA-C8-A26Y 0:LIVING 0.43 0:DiseaseFree 0.43 -TCGA-C8-A26Z 0:LIVING 0.13 0:DiseaseFree 0.13 -TCGA-C8-A273 0:LIVING 0.2 0:DiseaseFree 0.2 -TCGA-C8-A274 0:LIVING 0.03 0:DiseaseFree 0.03 -TCGA-C8-A275 0:LIVING 0.03 0:DiseaseFree 0.03 -TCGA-C8-A278 0:LIVING 0.03 0:DiseaseFree 0.03 -TCGA-C8-A27A 0:LIVING 12.19 0:DiseaseFree 12.19 -TCGA-C8-A27B 0:LIVING 0.99 0:DiseaseFree 0.99 -TCGA-D8-A146 0:LIVING 11.3 0:DiseaseFree 11.3 -TCGA-D8-A1J9 0:LIVING 8.15 0:DiseaseFree 8.15 -TCGA-D8-A1JA 0:LIVING 0.59 0:DiseaseFree 0.59 -TCGA-D8-A1JB 0:LIVING 0 0:DiseaseFree 0 -TCGA-D8-A1JC 0:LIVING 5.85 0:DiseaseFree 5.85 -TCGA-D8-A1JD 0:LIVING 8.97 0:DiseaseFree 8.97 -TCGA-D8-A1JE 0:LIVING 1.87 0:DiseaseFree 1.87 -TCGA-D8-A1JI 0:LIVING 0.69 0:DiseaseFree 0.69 -TCGA-D8-A1JJ 0:LIVING 9 0:DiseaseFree 9 -TCGA-D8-A1JK 0:LIVING 3.58 0:DiseaseFree 3.58 -TCGA-D8-A1JL 0:LIVING 8.71 0:DiseaseFree 8.71 -TCGA-D8-A1JM 0:LIVING 7.82 0:DiseaseFree 7.82 -TCGA-D8-A1JN 0:LIVING 7.13 0:DiseaseFree 7.13 -TCGA-D8-A1JP 0:LIVING 5.49 0:DiseaseFree 5.49 -TCGA-D8-A1X5 0:LIVING 5.62 0:DiseaseFree 5.62 -TCGA-D8-A1X6 0:LIVING 7.75 0:DiseaseFree 7.75 -TCGA-D8-A1X7 0:LIVING 2.79 0:DiseaseFree 2.79 -TCGA-D8-A1X8 0:LIVING 8.94 0:DiseaseFree 8.94 -TCGA-D8-A1X9 0:LIVING 12.48 0:DiseaseFree 12.48 -TCGA-D8-A1XA 0:LIVING 9 0:DiseaseFree 9 -TCGA-D8-A1XB 0:LIVING 6.6 0:DiseaseFree 6.6 -TCGA-D8-A1XC 0:LIVING 2.66 0:DiseaseFree 2.66 -TCGA-D8-A1XD 0:LIVING 5.09 0:DiseaseFree 5.09 -TCGA-D8-A1XF 0:LIVING 6.47 0:DiseaseFree 6.47 -TCGA-D8-A1XG 0:LIVING 6.44 0:DiseaseFree 6.44 -TCGA-D8-A1XJ 0:LIVING 11.56 0:DiseaseFree 11.56 -TCGA-D8-A1XK 0:LIVING 10.71 0:DiseaseFree 10.71 -TCGA-D8-A1XL 0:LIVING 10.48 0:DiseaseFree 10.48 -TCGA-D8-A1XM 0:LIVING 7.16 0:DiseaseFree 7.16 -TCGA-D8-A1XQ 0:LIVING 5.82 0:DiseaseFree 5.82 -TCGA-D8-A1XR 0:LIVING 5.52 0:DiseaseFree 5.52 -TCGA-D8-A1XU 0:LIVING 4.9 0:DiseaseFree 4.9 -TCGA-D8-A1XV 0:LIVING 4.8 0:DiseaseFree 4.8 -TCGA-D8-A1XW 0:LIVING 3.84 0:DiseaseFree 3.84 -TCGA-D8-A1XY 0:LIVING 2.66 0:DiseaseFree 2.66 -TCGA-D8-A1XZ 0:LIVING 3.94 0:DiseaseFree 3.94 -TCGA-D8-A1Y0 0:LIVING 5.45 0:DiseaseFree 5.45 -TCGA-D8-A1Y1 0:LIVING 3.78 0:DiseaseFree 3.78 -TCGA-D8-A1Y2 0:LIVING 2.37 0:DiseaseFree 2.37 -TCGA-D8-A1Y3 0:LIVING 4.07 0:DiseaseFree 4.07 -TCGA-D8-A27E 0:LIVING 5.98 0:DiseaseFree 5.98 -TCGA-D8-A27F 0:LIVING 7.46 0:DiseaseFree 7.46 -TCGA-D8-A27G 0:LIVING 6.87 0:DiseaseFree 6.87 -TCGA-D8-A27H 0:LIVING 4.6 0:DiseaseFree 4.6 -TCGA-D8-A27I 0:LIVING 6.08 0:DiseaseFree 6.08 -TCGA-D8-A27K 0:LIVING 3.88 0:DiseaseFree 3.88 -TCGA-D8-A27L 0:LIVING 4.11 0:DiseaseFree 4.11 -TCGA-D8-A27M 0:LIVING 4.73 0:DiseaseFree 4.73 -TCGA-D8-A27N 0:LIVING 4.76 0:DiseaseFree 4.76 -TCGA-D8-A27P 0:LIVING 0.72 0:DiseaseFree 0.72 -TCGA-D8-A27R 0:LIVING 2.96 0:DiseaseFree 2.96 -TCGA-D8-A27T 0:LIVING 4.44 0:DiseaseFree 4.44 -TCGA-D8-A27V 0:LIVING 2.4 0:DiseaseFree 2.4 -TCGA-D8-A27W 0:LIVING 0.49 0:DiseaseFree 0.49 -TCGA-E2-A1IE 0:LIVING 32.29 0:DiseaseFree 32.29 -TCGA-E2-A1IF 0:LIVING 31.41 0:DiseaseFree 31.41 -TCGA-E2-A1IG 0:LIVING 24.8 0:DiseaseFree 24.8 -TCGA-E2-A1IH 0:LIVING 21.62 0:DiseaseFree 21.62 -TCGA-E2-A1II 0:LIVING 27.93 0:DiseaseFree 27.93 -TCGA-E2-A1IJ 0:LIVING 23.82 0:DiseaseFree 23.82 -TCGA-E2-A1IK 0:LIVING 17.02 0:DiseaseFree 17.02 -TCGA-E2-A1IL 0:LIVING 0.46 0:DiseaseFree 0.46 -TCGA-E2-A1IN 0:LIVING 12.88 0:DiseaseFree 12.88 -TCGA-E2-A1IO 0:LIVING 14.72 0:DiseaseFree 14.72 -TCGA-E2-A1IP 0:LIVING 14.03 0:DiseaseFree 14.03 -TCGA-E2-A1IU 0:LIVING 4.17 0:DiseaseFree 4.17 -TCGA-E2-A1L6 0:LIVING 43.1 0:DiseaseFree 43.1 -TCGA-E2-A1L7 0:LIVING 20.8 0:DiseaseFree 20.8 -TCGA-E2-A1L8 0:LIVING 33.35 0:DiseaseFree 33.35 -TCGA-E2-A1L9 0:LIVING 12.75 0:DiseaseFree 12.75 -TCGA-E2-A1LA 0:LIVING 15.21 0:DiseaseFree 15.21 -TCGA-E2-A1LB 0:LIVING 31.93 0:DiseaseFree 31.93 -TCGA-E2-A1LG 0:LIVING 11.5 0:DiseaseFree 11.5 -TCGA-E2-A1LH 0:LIVING 94.45 0:DiseaseFree 94.45 -TCGA-E2-A1LI 0:LIVING 90.35 0:DiseaseFree 90.35 -TCGA-E2-A1LL 0:LIVING 33.31 0:DiseaseFree 33.31 -TCGA-E2-A1LS 0:LIVING 7.85 0:DiseaseFree 7.85 -TCGA-E9-A1N3 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1N4 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1N5 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1N6 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1N8 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1N9 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1NA 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1NC 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1ND 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1NE 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1NF 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1NG 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1NH 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1NI 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1QZ 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1R0 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A1R2 0:LIVING 0.62 0:DiseaseFree 0.62 -TCGA-E9-A1R3 0:LIVING 2.1 0:DiseaseFree 2.1 -TCGA-E9-A1R4 0:LIVING 0.95 0:DiseaseFree 0.95 -TCGA-E9-A1R5 0:LIVING 1.38 0:DiseaseFree 1.38 -TCGA-E9-A1R6 0:LIVING 2.76 0:DiseaseFree 2.76 -TCGA-E9-A1R7 0:LIVING 1.12 0:DiseaseFree 1.12 -TCGA-E9-A1RA 0:LIVING 0.95 0:DiseaseFree 0.95 -TCGA-E9-A1RB 0:LIVING 0.69 0:DiseaseFree 0.69 -TCGA-E9-A1RC 0:LIVING 40.34 0:DiseaseFree 40.34 -TCGA-E9-A1RD 0:LIVING 0.66 0:DiseaseFree 0.66 -TCGA-E9-A1RE 0:LIVING 1.54 0:DiseaseFree 1.54 -TCGA-E9-A1RF 0:LIVING 1.25 0:DiseaseFree 1.25 -TCGA-E9-A1RG 0:LIVING 1.15 0:DiseaseFree 1.15 -TCGA-E9-A1RH 0:LIVING 0.46 0:DiseaseFree 0.46 -TCGA-E9-A1RI 0:LIVING 1.58 0:DiseaseFree 1.58 -TCGA-E9-A226 0:LIVING 0.53 0:DiseaseFree 0.53 -TCGA-E9-A227 0:LIVING 0.79 0:DiseaseFree 0.79 -TCGA-E9-A228 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A229 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A22A 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A22B 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A22D 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A22E 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A22G 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A22H 0:LIVING 0 0:DiseaseFree 0 -TCGA-E9-A243 0:LIVING 1.41 0:DiseaseFree 1.41 -TCGA-E9-A244 0:LIVING 0.66 0:DiseaseFree 0.66 -TCGA-E9-A245 0:LIVING 0.82 0:DiseaseFree 0.82 -TCGA-E9-A247 0:LIVING 0.39 0:DiseaseFree 0.39 -TCGA-E9-A248 0:LIVING 0.69 0:DiseaseFree 0.69 -TCGA-E9-A249 0:LIVING 0.92 0:DiseaseFree 0.92 -TCGA-E9-A24A 0:LIVING 0.33 0:DiseaseFree 0.33 -TCGA-EW-A1IW 0:LIVING 8.28 0:DiseaseFree 8.28 -TCGA-EW-A1IX 0:LIVING 35.55 0:DiseaseFree 35.55 -TCGA-EW-A1IY 0:LIVING 8.48 0:DiseaseFree 8.48 -TCGA-EW-A1IZ 0:LIVING 8.54 0:DiseaseFree 8.54 -TCGA-EW-A1J1 0:LIVING 9.26 0:DiseaseFree 9.26 -TCGA-EW-A1J2 0:LIVING 4.57 0:DiseaseFree 4.57 -TCGA-EW-A1J3 0:LIVING 8.28 0:DiseaseFree 8.28 -TCGA-EW-A1J5 0:LIVING 7.46 0:DiseaseFree 7.46 -TCGA-EW-A1J6 0:LIVING 19.55 0:DiseaseFree 19.55 -TCGA-EW-A1OV 0:LIVING 17.15 0:DiseaseFree 17.15 -TCGA-EW-A1OW 0:LIVING 15.21 0:DiseaseFree 15.21 -TCGA-EW-A1OX 0:LIVING 18.46 0:DiseaseFree 18.46 -TCGA-EW-A1OY 0:LIVING 19.48 0:DiseaseFree 19.48 -TCGA-EW-A1OZ 0:LIVING 30.91 0:DiseaseFree 30.91 -TCGA-EW-A1P0 0:LIVING 36.83 1:Recurred/Progressed [Not Available] -TCGA-EW-A1P1 0:LIVING 30.19 1:Recurred/Progressed [Not Available] -TCGA-EW-A1P3 0:LIVING 32.43 0:DiseaseFree 32.43 -TCGA-EW-A1P4 0:LIVING 16.46 0:DiseaseFree 16.46 -TCGA-EW-A1P5 0:LIVING 11.99 0:DiseaseFree 11.99 -TCGA-EW-A1P6 0:LIVING 10.25 0:DiseaseFree 10.25 -TCGA-EW-A1P7 0:LIVING 20.86 0:DiseaseFree 20.86 -TCGA-EW-A1PA 0:LIVING 8.77 0:DiseaseFree 8.77 -TCGA-EW-A1PB 0:LIVING 19.97 0:DiseaseFree 19.97 -TCGA-EW-A1PD 0:LIVING 5.72 0:DiseaseFree 5.72 -TCGA-EW-A1PE 0:LIVING 4.57 0:DiseaseFree 4.57 -TCGA-EW-A1PF 0:LIVING 4.57 0:DiseaseFree 4.57 -TCGA-EW-A1PG 0:LIVING 28.75 0:DiseaseFree 28.75 -TCGA-EW-A1PH 0:LIVING 4.57 0:DiseaseFree 4.57 -TCGA-EW-A2FS [Not Available] [Not Available] [Not Available] [Not Available] -TCGA-EW-A2FV [Not Available] [Not Available] [Not Available] [Not Available] -TCGA-EW-A2FW [Not Available] [Not Available] [Not Available] [Not Available] -TCGA-GM-A2DA 0:LIVING 194.13 1:Recurred/Progressed [Not Available] -TCGA-GM-A2DB 0:LIVING 53.06 0:DiseaseFree 53.06 -TCGA-GM-A2DC 0:LIVING 53.49 0:DiseaseFree 53.49 -TCGA-GM-A2DD 0:LIVING 43.01 0:DiseaseFree 43.01 -TCGA-GM-A2DF 0:LIVING 42.68 0:DiseaseFree 42.68 -TCGA-GM-A2DH 0:LIVING 42.25 0:DiseaseFree 42.25 -TCGA-GM-A2DI 0:LIVING 61.86 0:DiseaseFree 61.86 -TCGA-GM-A2DK 0:LIVING 62.29 0:DiseaseFree 62.29 -TCGA-GM-A2DL 0:LIVING 90.74 0:DiseaseFree 90.74 -TCGA-GM-A2DM 0:LIVING 76.58 0:DiseaseFree 76.58 -TCGA-GM-A2DN 0:LIVING 77.27 0:DiseaseFree 77.27 -TCGA-GM-A2DO 0:LIVING 53.29 0:DiseaseFree 53.29 -TCGA-AR-A24W [Not Available] [Not Available] [Not Available] [Not Available] -TEST-A2B8 [Not Available] [Not Available] [Not Available] [Not Available] -TEST-A2FF [Not Available] [Not Available] [Not Available] [Not Available] -TEST-A2FB [Not Available] [Not Available] [Not Available] [Not Available] -TEST-A2FG [Not Available] [Not Available] [Not Available] [Not Available] -TCGA-GI-A2C8 [Not Available] [Not Available] [Not Available] [Not Available] -TCGA-E9-A295 [Not Available] [Not Available] [Not Available] [Not Available] -TCGA-A2-A0T2 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_1 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_2 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_3 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_4 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_5 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_6 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_7 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_8 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_9 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_10 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_11 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_12 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_13 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_14 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_15 [Not Available] [Not Available] [Not Available] [Not Available] -TEST_PATIENT_NAMESPACE [Not Available] [Not Available] [Not Available] [Not Available] diff --git a/end-to-end-test/local/test_data/study_es_0/data_clinical_samples.txt b/end-to-end-test/local/test_data/study_es_0/data_clinical_samples.txt deleted file mode 100644 index 82a6dc99fd9..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_clinical_samples.txt +++ /dev/null @@ -1,850 +0,0 @@ -#Patient Identifier Sample Identifier Subtype -#Patient identifier Sample identifier Subtype description -#STRING STRING STRING -#1 1 1 -PATIENT_ID SAMPLE_ID SUBTYPE -TCGA-A2-A04P TCGA-A2-A04P-01 basal-like -TCGA-A1-A0SK TCGA-A1-A0SK-01 basal-like -TCGA-A2-A0CM TCGA-A2-A0CM-01 basal-like -TCGA-AR-A1AR TCGA-AR-A1AR-01 basal-like -TCGA-B6-A0WX TCGA-B6-A0WX-01 basal-like -TCGA-BH-A1F0 TCGA-BH-A1F0-01 basal-like -TCGA-B6-A0I6 TCGA-B6-A0I6-01 NA -TCGA-BH-A18V TCGA-BH-A18V-01 basal-like -TCGA-BH-A18Q TCGA-BH-A18Q-01 basal-like -TCGA-BH-A18K TCGA-BH-A18K-01 basal-like -TCGA-BH-A0HL TCGA-BH-A0HL-01 NA -TCGA-BH-A0E0 TCGA-BH-A0E0-01 basal-like -TCGA-BH-A0RX TCGA-BH-A0RX-01 basal-like -TCGA-A7-A13D TCGA-A7-A13D-01 basal-like -TCGA-BH-A0E6 TCGA-BH-A0E6-01 basal-like -TCGA-AO-A0J4 TCGA-AO-A0J4-01 basal-like -TCGA-A7-A0CE TCGA-A7-A0CE-01 basal-like -TCGA-A7-A13E TCGA-A7-A13E-01 -TCGA-A7-A0DA TCGA-A7-A0DA-01 basal-like -TCGA-D8-A142 TCGA-D8-A142-01 basal-like -TCGA-D8-A143 TCGA-D8-A143-01 NA -TCGA-AQ-A04J TCGA-AQ-A04J-01 basal-like -TCGA-BH-A0HN TCGA-BH-A0HN-01 NA -TCGA-A2-A0T0 TCGA-A2-A0T0-01 basal-like -TCGA-A2-A0YE TCGA-A2-A0YE-01 NA -TCGA-A2-A0YJ TCGA-A2-A0YJ-01 NA -TCGA-A2-A0D0 TCGA-A2-A0D0-01 basal-like -TCGA-A2-A04U TCGA-A2-A04U-01 NA -TCGA-AO-A0J6 TCGA-AO-A0J6-01 basal-like -TCGA-A2-A0YM TCGA-A2-A0YM-01 basal-like -TCGA-A2-A0D2 TCGA-A2-A0D2-01 basal-like -TCGA-BH-A0B3 TCGA-BH-A0B3-01 basal-like -TCGA-A2-A04Q TCGA-A2-A04Q-01 basal-like -TCGA-A2-A0SX TCGA-A2-A0SX-01 basal-like -TCGA-AO-A0JL TCGA-AO-A0JL-01 basal-like -TCGA-AO-A12F TCGA-AO-A12F-01 basal-like -TCGA-BH-A0B9 TCGA-BH-A0B9-01 basal-like -TCGA-A2-A04T TCGA-A2-A04T-01 NA -TCGA-B6-A0RT TCGA-B6-A0RT-01 basal-like -TCGA-AO-A128 TCGA-AO-A128-01 NA -TCGA-AO-A129 TCGA-AO-A129-01 basal-like -TCGA-AO-A124 TCGA-AO-A124-01 basal-like -TCGA-B6-A0RU TCGA-B6-A0RU-01 basal-like -TCGA-B6-A0IQ TCGA-B6-A0IQ-01 basal-like -TCGA-B6-A0I2 TCGA-B6-A0I2-01 basal-like -TCGA-B6-A0IJ TCGA-B6-A0IJ-01 basal-like -TCGA-B6-A0X1 TCGA-B6-A0X1-01 NA -TCGA-B6-A0RE TCGA-B6-A0RE-01 basal-like -TCGA-A2-A0ST TCGA-A2-A0ST-01 basal-like -TCGA-AR-A0TP TCGA-AR-A0TP-01 basal-like -TCGA-A1-A0SO TCGA-A1-A0SO-01 basal-like -TCGA-A8-A07C TCGA-A8-A07C-01 basal-like -TCGA-A8-A07O TCGA-A8-A07O-01 basal-like -TCGA-A8-A07R TCGA-A8-A07R-01 basal-like -TCGA-A8-A07U TCGA-A8-A07U-01 basal-like -TCGA-A8-A08H TCGA-A8-A08H-01 basal-like -TCGA-A8-A08R TCGA-A8-A08R-01 basal-like -TCGA-AN-A04D TCGA-AN-A04D-01 basal-like -TCGA-AN-A0AL TCGA-AN-A0AL-01 basal-like -TCGA-AN-A0AR TCGA-AN-A0AR-01 basal-like -TCGA-AN-A0AT TCGA-AN-A0AT-01 NA -TCGA-AN-A0FJ TCGA-AN-A0FJ-01 basal-like -TCGA-AN-A0FL TCGA-AN-A0FL-01 basal-like -TCGA-AN-A0FX TCGA-AN-A0FX-01 basal-like -TCGA-AN-A0G0 TCGA-AN-A0G0-01 NA -TCGA-AN-A0XU TCGA-AN-A0XU-01 basal-like -TCGA-AR-A0TS TCGA-AR-A0TS-01 basal-like -TCGA-AR-A0TU TCGA-AR-A0TU-01 NA -TCGA-AR-A0U0 TCGA-AR-A0U0-01 NA -TCGA-AR-A0U1 TCGA-AR-A0U1-01 basal-like -TCGA-AR-A0U4 TCGA-AR-A0U4-01 basal-like -TCGA-AR-A1AH TCGA-AR-A1AH-01 basal-like -TCGA-AR-A1AI TCGA-AR-A1AI-01 basal-like -TCGA-AR-A1AJ TCGA-AR-A1AJ-01 basal-like -TCGA-AR-A1AQ TCGA-AR-A1AQ-01 basal-like -TCGA-AR-A1AY TCGA-AR-A1AY-01 basal-like -TCGA-BH-A0AV TCGA-BH-A0AV-01 basal-like -TCGA-BH-A0BG TCGA-BH-A0BG-01 basal-like -TCGA-BH-A0BL TCGA-BH-A0BL-01 basal-like -TCGA-BH-A0BW TCGA-BH-A0BW-01 basal-like -TCGA-BH-A0DL TCGA-BH-A0DL-01 basal-like -TCGA-BH-A0WA TCGA-BH-A0WA-01 basal-like -TCGA-BH-A18G TCGA-BH-A18G-01 NA -TCGA-C8-A12K TCGA-C8-A12K-01 basal-like -TCGA-C8-A12V TCGA-C8-A12V-01 basal-like -TCGA-C8-A131 TCGA-C8-A131-01 basal-like -TCGA-C8-A134 TCGA-C8-A134-01 basal-like -TCGA-D8-A147 TCGA-D8-A147-01 basal-like -TCGA-E2-A14N TCGA-E2-A14N-01 basal-like -TCGA-E2-A14R TCGA-E2-A14R-01 basal-like -TCGA-E2-A14X TCGA-E2-A14X-01 basal-like -TCGA-E2-A14Y TCGA-E2-A14Y-01 basal-like -TCGA-E2-A150 TCGA-E2-A150-01 basal-like -TCGA-E2-A158 TCGA-E2-A158-01 basal-like -TCGA-E2-A159 TCGA-E2-A159-01 basal-like -TCGA-E2-A1AZ TCGA-E2-A1AZ-01 NA -TCGA-E2-A1B5 TCGA-E2-A1B5-01 basal-like -TCGA-A8-A08L TCGA-A8-A08L-01 Her2 enriched -TCGA-BH-A1EV TCGA-BH-A1EV-01 Her2 enriched -TCGA-B6-A0I9 TCGA-B6-A0I9-01 Her2 enriched -TCGA-A8-A09X TCGA-A8-A09X-01 Her2 enriched -TCGA-B6-A0IK TCGA-B6-A0IK-01 Her2 enriched -TCGA-BH-A18P TCGA-BH-A18P-01 Her2 enriched -TCGA-A8-A08J TCGA-A8-A08J-01 Her2 enriched -TCGA-BH-A18R TCGA-BH-A18R-01 Her2 enriched -TCGA-AR-A1AT TCGA-AR-A1AT-01 Her2 enriched -TCGA-B6-A0RS TCGA-B6-A0RS-01 Her2 enriched -TCGA-BH-A0DZ TCGA-BH-A0DZ-01 Her2 enriched -TCGA-A2-A0T1 TCGA-A2-A0T1-01 Her2 enriched -TCGA-AO-A0J2 TCGA-AO-A0J2-01 Her2 enriched -TCGA-BH-A0AW TCGA-BH-A0AW-01 Her2 enriched -TCGA-BH-A0EE TCGA-BH-A0EE-01 Her2 enriched -TCGA-A2-A0D1 TCGA-A2-A0D1-01 Her2 enriched -TCGA-AO-A03N TCGA-AO-A03N-01 Her2 enriched -TCGA-A2-A0CY TCGA-A2-A0CY-01 Her2 enriched -TCGA-A2-A04X TCGA-A2-A04X-01 Her2 enriched -TCGA-A2-A0CX TCGA-A2-A0CX-01 Her2 enriched -TCGA-A2-A04W TCGA-A2-A04W-01 Her2 enriched -TCGA-AO-A12D TCGA-AO-A12D-01 Her2 enriched -TCGA-A2-A0CL TCGA-A2-A0CL-01 Her2 enriched -TCGA-AO-A0JE TCGA-AO-A0JE-01 Her2 enriched -TCGA-A2-A0EQ TCGA-A2-A0EQ-01 Her2 enriched -TCGA-AO-A03L TCGA-AO-A03L-01 Her2 enriched -TCGA-B6-A0RH TCGA-B6-A0RH-01 Her2 enriched -TCGA-A8-A075 TCGA-A8-A075-01 Her2 enriched -TCGA-A8-A076 TCGA-A8-A076-01 Her2 enriched -TCGA-A8-A07B TCGA-A8-A07B-01 Her2 enriched -TCGA-A8-A07I TCGA-A8-A07I-01 Her2 enriched -TCGA-A8-A081 TCGA-A8-A081-01 Her2 enriched -TCGA-A8-A08B TCGA-A8-A08B-01 Her2 enriched -TCGA-A8-A08X TCGA-A8-A08X-01 Her2 enriched -TCGA-A8-A092 TCGA-A8-A092-01 Her2 enriched -TCGA-A8-A094 TCGA-A8-A094-01 Her2 enriched -TCGA-A8-A09G TCGA-A8-A09G-01 Her2 enriched -TCGA-A8-A0A7 TCGA-A8-A0A7-01 Her2 enriched -TCGA-AN-A04C TCGA-AN-A04C-01 Her2 enriched -TCGA-AN-A0FV TCGA-AN-A0FV-01 Her2 enriched -TCGA-AR-A0TX TCGA-AR-A0TX-01 Her2 enriched -TCGA-BH-A0B7 TCGA-BH-A0B7-01 Her2 enriched -TCGA-BH-A0HY TCGA-BH-A0HY-01 Her2 enriched -TCGA-C8-A12L TCGA-C8-A12L-01 Her2 enriched -TCGA-C8-A12P TCGA-C8-A12P-01 Her2 enriched -TCGA-C8-A12Q TCGA-C8-A12Q-01 Her2 enriched -TCGA-C8-A12T TCGA-C8-A12T-01 Her2 enriched -TCGA-C8-A12Z TCGA-C8-A12Z-01 Her2 enriched -TCGA-C8-A130 TCGA-C8-A130-01 Her2 enriched -TCGA-C8-A135 TCGA-C8-A135-01 Her2 enriched -TCGA-C8-A137 TCGA-C8-A137-01 Her2 enriched -TCGA-C8-A138 TCGA-C8-A138-01 Her2 enriched -TCGA-C8-A1HF TCGA-C8-A1HF-01 Her2 enriched -TCGA-D8-A13Z TCGA-D8-A13Z-01 Her2 enriched -TCGA-E2-A14P TCGA-E2-A14P-01 Her2 enriched -TCGA-E2-A14V TCGA-E2-A14V-01 Her2 enriched -TCGA-E2-A152 TCGA-E2-A152-01 Her2 enriched -TCGA-E2-A1B0 TCGA-E2-A1B0-01 Her2 enriched -TCGA-A2-A0CU TCGA-A2-A0CU-01 Luminal A -TCGA-AR-A0TR TCGA-AR-A0TR-01 Luminal A -TCGA-BH-A18T TCGA-BH-A18T-01 Luminal A -TCGA-B6-A0I8 TCGA-B6-A0I8-01 Luminal A -TCGA-B6-A0X4 TCGA-B6-A0X4-01 Luminal A -TCGA-A8-A06U TCGA-A8-A06U-01 Luminal A -TCGA-BH-A0EA TCGA-BH-A0EA-01 Luminal A -TCGA-BH-A18N TCGA-BH-A18N-01 Luminal A -TCGA-BH-A1EU TCGA-BH-A1EU-01 Luminal A -TCGA-B6-A0X7 TCGA-B6-A0X7-01 Luminal A -TCGA-A2-A04V TCGA-A2-A04V-01 Luminal A -TCGA-BH-A18S TCGA-BH-A18S-01 Luminal A -TCGA-BH-A18M TCGA-BH-A18M-01 Luminal A -TCGA-B6-A0RM TCGA-B6-A0RM-01 Luminal A -TCGA-BH-A1ET TCGA-BH-A1ET-01 Luminal A -TCGA-B6-A0IN TCGA-B6-A0IN-01 Luminal A -TCGA-BH-A1EO TCGA-BH-A1EO-01 Luminal A -TCGA-B6-A0WS TCGA-B6-A0WS-01 Luminal A -TCGA-B6-A0RP TCGA-B6-A0RP-01 Luminal A -TCGA-B6-A0IH TCGA-B6-A0IH-01 Luminal A -TCGA-B6-A0WY TCGA-B6-A0WY-01 Luminal A -TCGA-BH-A1ES TCGA-BH-A1ES-01 Luminal A -TCGA-B6-A0X0 TCGA-B6-A0X0-01 Luminal A -TCGA-B6-A0RQ TCGA-B6-A0RQ-01 Luminal A -TCGA-B6-A0IG TCGA-B6-A0IG-01 Luminal A -TCGA-BH-A0HO TCGA-BH-A0HO-01 Luminal A -TCGA-BH-A0DS TCGA-BH-A0DS-01 Luminal A -TCGA-BH-A0DQ TCGA-BH-A0DQ-01 Luminal A -TCGA-BH-A0HK TCGA-BH-A0HK-01 Luminal A -TCGA-A7-A0CG TCGA-A7-A0CG-01 Luminal A -TCGA-A7-A0CH TCGA-A7-A0CH-01 Luminal A -TCGA-A7-A0DB TCGA-A7-A0DB-01 Luminal A -TCGA-A7-A0D9 TCGA-A7-A0D9-01 Luminal A -TCGA-AO-A0J8 TCGA-AO-A0J8-01 Luminal A -TCGA-BH-A0GZ TCGA-BH-A0GZ-01 Luminal A -TCGA-AO-A0JA TCGA-AO-A0JA-01 Luminal A -TCGA-AO-A0JF TCGA-AO-A0JF-01 Luminal A -TCGA-A7-A0CD TCGA-A7-A0CD-01 Luminal A -TCGA-D8-A145 TCGA-D8-A145-01 Luminal A -TCGA-BH-A0HP TCGA-BH-A0HP-01 Luminal A -TCGA-BH-A0DK TCGA-BH-A0DK-01 Luminal A -TCGA-BH-A0E2 TCGA-BH-A0E2-01 Luminal A -TCGA-A2-A0YI TCGA-A2-A0YI-01 Luminal A -TCGA-A2-A0YL TCGA-A2-A0YL-01 Luminal A -TCGA-AO-A0JG TCGA-AO-A0JG-01 Luminal A -TCGA-A2-A0YF TCGA-A2-A0YF-01 Luminal A -TCGA-BH-A0DP TCGA-BH-A0DP-01 Luminal A -TCGA-BH-A0E1 TCGA-BH-A0E1-01 Luminal A -TCGA-A2-A0T5 TCGA-A2-A0T5-01 Luminal A -TCGA-A2-A0T6 TCGA-A2-A0T6-01 Luminal A -TCGA-BH-A0HI TCGA-BH-A0HI-01 Luminal A -TCGA-A2-A0T7 TCGA-A2-A0T7-01 Luminal A -TCGA-BH-A0BJ TCGA-BH-A0BJ-01 Luminal A -TCGA-BH-A0H7 TCGA-BH-A0H7-01 Luminal A -TCGA-BH-A0HF TCGA-BH-A0HF-01 Luminal A -TCGA-BH-A0EB TCGA-BH-A0EB-01 Luminal A -TCGA-BH-A0H6 TCGA-BH-A0H6-01 Luminal A -TCGA-A2-A0YD TCGA-A2-A0YD-01 Luminal A -TCGA-BH-A0HB TCGA-BH-A0HB-01 Luminal A -TCGA-BH-A0HX TCGA-BH-A0HX-01 Luminal A -TCGA-AO-A12H TCGA-AO-A12H-01 Luminal A -TCGA-E2-A10E TCGA-E2-A10E-01 Luminal A -TCGA-A2-A0D3 TCGA-A2-A0D3-01 Luminal A -TCGA-E2-A10F TCGA-E2-A10F-01 Luminal A -TCGA-AO-A03V TCGA-AO-A03V-01 Luminal A -TCGA-A2-A0EW TCGA-A2-A0EW-01 Luminal A -TCGA-BH-A0GY TCGA-BH-A0GY-01 Luminal A -TCGA-A2-A0EV TCGA-A2-A0EV-01 Luminal A -TCGA-BH-A0BC TCGA-BH-A0BC-01 Luminal A -TCGA-A2-A0YC TCGA-A2-A0YC-01 Luminal A -TCGA-A2-A0EU TCGA-A2-A0EU-01 Luminal 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B -TCGA-A8-A08G TCGA-A8-A08G-01 Luminal B -TCGA-A8-A08I TCGA-A8-A08I-01 Luminal B -TCGA-A8-A08P TCGA-A8-A08P-01 Luminal B -TCGA-A8-A095 TCGA-A8-A095-01 Luminal B -TCGA-A8-A096 TCGA-A8-A096-01 Luminal B -TCGA-A8-A097 TCGA-A8-A097-01 Luminal B -TCGA-A8-A09C TCGA-A8-A09C-01 Luminal B -TCGA-A8-A09D TCGA-A8-A09D-01 Luminal B -TCGA-A8-A09I TCGA-A8-A09I-01 Luminal B -TCGA-A8-A09M TCGA-A8-A09M-01 Luminal B -TCGA-A8-A09N TCGA-A8-A09N-01 Luminal B -TCGA-A8-A09Q TCGA-A8-A09Q-01 Luminal B -TCGA-A8-A09R TCGA-A8-A09R-01 Luminal B -TCGA-A8-A09W TCGA-A8-A09W-01 Luminal B -TCGA-A8-A09Z TCGA-A8-A09Z-01 Luminal B -TCGA-A8-A0A9 TCGA-A8-A0A9-01 Luminal B -TCGA-A8-A0AB TCGA-A8-A0AB-01 Luminal B -TCGA-AN-A03Y TCGA-AN-A03Y-01 Luminal B -TCGA-AN-A041 TCGA-AN-A041-01 Luminal B -TCGA-AN-A049 TCGA-AN-A049-01 Luminal B -TCGA-AN-A0AJ TCGA-AN-A0AJ-01 Luminal B -TCGA-AN-A0AK TCGA-AN-A0AK-01 Luminal B -TCGA-AN-A0AM TCGA-AN-A0AM-01 Luminal B -TCGA-AN-A0AS TCGA-AN-A0AS-01 Luminal B -TCGA-AN-A0FF TCGA-AN-A0FF-01 Luminal B -TCGA-AN-A0FK TCGA-AN-A0FK-01 Luminal B -TCGA-AN-A0FY TCGA-AN-A0FY-01 Luminal B -TCGA-AN-A0XR TCGA-AN-A0XR-01 Luminal B -TCGA-AN-A0XW TCGA-AN-A0XW-01 Luminal B -TCGA-AR-A0TQ TCGA-AR-A0TQ-01 Luminal B -TCGA-AR-A0TT TCGA-AR-A0TT-01 Luminal B -TCGA-AR-A0TV TCGA-AR-A0TV-01 Luminal B -TCGA-AR-A0TZ TCGA-AR-A0TZ-01 Luminal B -TCGA-AR-A0U3 TCGA-AR-A0U3-01 Luminal B -TCGA-AR-A1AV TCGA-AR-A1AV-01 Luminal B -TCGA-BH-A0AU TCGA-BH-A0AU-01 Luminal B -TCGA-BH-A0B5 TCGA-BH-A0B5-01 Luminal B -TCGA-BH-A0BF TCGA-BH-A0BF-01 Luminal B -TCGA-BH-A0BZ TCGA-BH-A0BZ-01 Luminal B -TCGA-BH-A0C3 TCGA-BH-A0C3-01 Luminal B -TCGA-BH-A0C7 TCGA-BH-A0C7-01 Luminal B -TCGA-BH-A0DD TCGA-BH-A0DD-01 Luminal B -TCGA-BH-A0W3 TCGA-BH-A0W3-01 Luminal B -TCGA-BH-A18F TCGA-BH-A18F-01 Luminal B -TCGA-C8-A12M TCGA-C8-A12M-01 Luminal B -TCGA-C8-A12U TCGA-C8-A12U-01 Luminal B -TCGA-C8-A12W TCGA-C8-A12W-01 Luminal B -TCGA-C8-A12X TCGA-C8-A12X-01 Luminal B -TCGA-C8-A1HG TCGA-C8-A1HG-01 Luminal B -TCGA-C8-A1HL TCGA-C8-A1HL-01 Luminal B -TCGA-C8-A1HM TCGA-C8-A1HM-01 Luminal B -TCGA-C8-A1HN TCGA-C8-A1HN-01 Luminal B -TCGA-E2-A14O TCGA-E2-A14O-01 Luminal B -TCGA-E2-A14S TCGA-E2-A14S-01 Luminal B -TCGA-E2-A14W TCGA-E2-A14W-01 Luminal B -TCGA-E2-A155 TCGA-E2-A155-01 Luminal B -TCGA-E2-A15A TCGA-E2-A15A-01 Luminal B -TCGA-E2-A15K TCGA-E2-A15K-01 Luminal B -TCGA-E2-A15L TCGA-E2-A15L-01 Luminal B -TCGA-E2-A15M TCGA-E2-A15M-01 Luminal B -TCGA-E2-A15S TCGA-E2-A15S-01 Luminal B -TCGA-E2-A15T TCGA-E2-A15T-01 Luminal B -TCGA-AO-A03U TCGA-AO-A03U-01 NA -TCGA-B6-A0IE TCGA-B6-A0IE-01 NA -TCGA-A2-A0YK TCGA-A2-A0YK-01 NA -TCGA-E2-A108 TCGA-E2-A108-01 Claudin low -TCGA-AO-A0JB TCGA-AO-A0JB-01 NA -TCGA-AO-A03R TCGA-AO-A03R-01 NA -TCGA-AO-A03T TCGA-AO-A03T-01 NA -TCGA-AR-A1AO TCGA-AR-A1AO-01 Claudin low -TCGA-A2-A0YT TCGA-A2-A0YT-01 Luminal B -TCGA-AQ-A0Y5 TCGA-AQ-A0Y5-01 NA -TCGA-EW-A1P8 TCGA-EW-A1P8-01 NA -TCGA-E2-A1LK TCGA-E2-A1LK-01 NA -TCGA-BH-A1EY TCGA-BH-A1EY-01 NA -TCGA-BH-A1F8 TCGA-BH-A1F8-01 NA -TCGA-BH-A1F2 TCGA-BH-A1F2-01 NA -TCGA-BH-A1FD TCGA-BH-A1FD-01 NA -TCGA-BH-A1FH TCGA-BH-A1FH-01 NA -TCGA-BH-A203 TCGA-BH-A203-01 NA -TCGA-BH-A1FM TCGA-BH-A1FM-01 NA -TCGA-BH-A1EX TCGA-BH-A1EX-01 NA -TCGA-BH-A1FL TCGA-BH-A1FL-01 NA -TCGA-BH-A208 TCGA-BH-A208-01 NA -TCGA-GM-A2D9 TCGA-GM-A2D9-01 NA -TCGA-BH-A1FJ TCGA-BH-A1FJ-01 NA -TCGA-BH-A1EN TCGA-BH-A1EN-01 NA -TCGA-BH-A1FN TCGA-BH-A1FN-01 NA -TCGA-BH-A1FU TCGA-BH-A1FU-01 NA -TCGA-BH-A1FE TCGA-BH-A1FE-01 NA -TCGA-BH-A204 TCGA-BH-A204-01 NA -TCGA-BH-A1F5 TCGA-BH-A1F5-01 NA -TCGA-AR-A256 TCGA-AR-A256-01 NA -TCGA-BH-A1F6 TCGA-BH-A1F6-01 NA -TCGA-BH-A1FC TCGA-BH-A1FC-01 NA -TCGA-BH-A1FB TCGA-BH-A1FB-01 NA -TCGA-BH-A1FG TCGA-BH-A1FG-01 NA -TCGA-BH-A209 TCGA-BH-A209-01 NA -TCGA-BH-A1FR TCGA-BH-A1FR-01 NA -TCGA-AO-A1KS TCGA-AO-A1KS-01 NA -TCGA-A7-A13G TCGA-A7-A13G-01 NA -TCGA-D8-A1JS TCGA-D8-A1JS-01 NA -TCGA-A7-A0DC TCGA-A7-A0DC-01 Luminal A -TCGA-D8-A1JT TCGA-D8-A1JT-01 NA -TCGA-A7-A26E TCGA-A7-A26E-01 NA -TCGA-D8-A1JH TCGA-D8-A1JH-01 NA -TCGA-D8-A1JU TCGA-D8-A1JU-01 NA -TCGA-AO-A1KO TCGA-AO-A1KO-01 NA -TCGA-AO-A1KT TCGA-AO-A1KT-01 NA -TCGA-AO-A0J5 TCGA-AO-A0J5-01 Luminal A -TCGA-B6-A1KC TCGA-B6-A1KC-01 NA -TCGA-AO-A1KQ TCGA-AO-A1KQ-01 NA -TCGA-B6-A1KI TCGA-B6-A1KI-01 NA -TCGA-AO-A1KP TCGA-AO-A1KP-01 NA -TCGA-B6-A1KF TCGA-B6-A1KF-01 NA -TCGA-B6-A1KN TCGA-B6-A1KN-01 NA -TCGA-D8-A1XO TCGA-D8-A1XO-01 NA -TCGA-D8-A1XT TCGA-D8-A1XT-01 NA -TCGA-A1-A0SP TCGA-A1-A0SP-01 NA -TCGA-D8-A1J8 TCGA-D8-A1J8-01 NA -TCGA-D8-A1JF TCGA-D8-A1JF-01 NA -TCGA-D8-A1JG TCGA-D8-A1JG-01 NA -TCGA-D8-A1XS TCGA-D8-A1XS-01 NA -TCGA-A1-A0SB TCGA-A1-A0SB-01 NA -TCGA-A1-A0SB TCGA-A1-A0SB-02 NA -TCGA-A1-A0SF TCGA-A1-A0SF-01 NA -TCGA-A1-A0SG TCGA-A1-A0SG-01 NA -TCGA-A1-A0SI TCGA-A1-A0SI-01 NA -TCGA-A1-A0SN TCGA-A1-A0SN-01 NA -TCGA-A1-A0SQ TCGA-A1-A0SQ-01 NA -TCGA-A2-A1FV TCGA-A2-A1FV-01 NA -TCGA-A2-A1FW TCGA-A2-A1FW-01 NA -TCGA-A2-A1FX TCGA-A2-A1FX-01 NA -TCGA-A2-A1FZ TCGA-A2-A1FZ-01 NA -TCGA-A2-A1G0 TCGA-A2-A1G0-01 NA -TCGA-A2-A1G1 TCGA-A2-A1G1-01 NA -TCGA-A2-A1G4 TCGA-A2-A1G4-01 NA -TCGA-A2-A1G6 TCGA-A2-A1G6-01 NA -TCGA-A2-A259 TCGA-A2-A259-01 NA -TCGA-A2-A25A TCGA-A2-A25A-01 NA -TCGA-A2-A25B TCGA-A2-A25B-01 NA -TCGA-A2-A25C TCGA-A2-A25C-01 NA -TCGA-A2-A25D TCGA-A2-A25D-01 NA -TCGA-A2-A25E TCGA-A2-A25E-01 NA -TCGA-A2-A25F TCGA-A2-A25F-01 NA -TCGA-A7-A26F TCGA-A7-A26F-01 NA -TCGA-A7-A26G TCGA-A7-A26G-01 NA -TCGA-A7-A26H TCGA-A7-A26H-01 NA -TCGA-A7-A26I TCGA-A7-A26I-01 NA -TCGA-A7-A26J TCGA-A7-A26J-01 NA -TCGA-A8-A08S TCGA-A8-A08S-01 Luminal B -TCGA-A8-A09E TCGA-A8-A09E-01 Luminal B -TCGA-A8-A09K TCGA-A8-A09K-01 Luminal B -TEST-A23C TEST-A23C-01 NA -TEST-A23E TEST-A23E-01 NA -TEST-A23H TEST-A23H-01 NA -TCGA-AO-A1KR TCGA-AO-A1KR-01 NA -TCGA-AQ-A1H2 TCGA-AQ-A1H2-01 NA -TCGA-AQ-A1H3 TCGA-AQ-A1H3-01 NA -TCGA-AR-A24H TCGA-AR-A24H-01 NA -TCGA-AR-A24K TCGA-AR-A24K-01 NA -TCGA-AR-A24L TCGA-AR-A24L-01 NA -TCGA-AR-A24M TCGA-AR-A24M-01 NA -TCGA-AR-A24N TCGA-AR-A24N-01 NA -TCGA-AR-A24O TCGA-AR-A24O-01 NA -TCGA-AR-A24P TCGA-AR-A24P-01 NA -TCGA-AR-A24Q TCGA-AR-A24Q-01 NA -TCGA-AR-A24R TCGA-AR-A24R-01 NA -TCGA-AR-A24S TCGA-AR-A24S-01 NA -TCGA-AR-A24T TCGA-AR-A24T-01 NA -TCGA-AR-A24U TCGA-AR-A24U-01 NA -TCGA-AR-A24V TCGA-AR-A24V-01 NA -TCGA-AR-A24X TCGA-AR-A24X-01 NA -TCGA-AR-A24Z TCGA-AR-A24Z-01 NA -TCGA-AR-A250 TCGA-AR-A250-01 NA -TCGA-AR-A251 TCGA-AR-A251-01 NA -TCGA-AR-A252 TCGA-AR-A252-01 NA -TCGA-AR-A254 TCGA-AR-A254-01 NA -TCGA-AR-A255 TCGA-AR-A255-01 NA -TCGA-BH-A0B2 TCGA-BH-A0B2-01 Luminal A -TCGA-BH-A0DV TCGA-BH-A0DV-01 NA -TCGA-BH-A201 TCGA-BH-A201-01 NA -TCGA-BH-A202 TCGA-BH-A202-01 NA -TCGA-BH-A28Q TCGA-BH-A28Q-01 NA -TCGA-C8-A1HE TCGA-C8-A1HE-01 NA -TCGA-C8-A1HJ TCGA-C8-A1HJ-01 NA -TCGA-C8-A1HK TCGA-C8-A1HK-01 NA -TCGA-C8-A1HO TCGA-C8-A1HO-01 NA -TCGA-C8-A26V TCGA-C8-A26V-01 NA -TCGA-C8-A26W TCGA-C8-A26W-01 NA -TCGA-C8-A26X TCGA-C8-A26X-01 NA -TCGA-C8-A26Y TCGA-C8-A26Y-01 NA -TCGA-C8-A26Z TCGA-C8-A26Z-01 NA -TCGA-C8-A273 TCGA-C8-A273-01 NA -TCGA-C8-A274 TCGA-C8-A274-01 NA -TCGA-C8-A275 TCGA-C8-A275-01 NA -TCGA-C8-A278 TCGA-C8-A278-01 NA -TCGA-C8-A27A TCGA-C8-A27A-01 NA -TCGA-C8-A27B TCGA-C8-A27B-01 NA -TCGA-D8-A146 TCGA-D8-A146-01 Luminal A -TCGA-D8-A1J9 TCGA-D8-A1J9-01 NA -TCGA-D8-A1JA TCGA-D8-A1JA-01 NA -TCGA-D8-A1JB TCGA-D8-A1JB-01 NA -TCGA-D8-A1JC TCGA-D8-A1JC-01 NA -TCGA-D8-A1JD TCGA-D8-A1JD-01 NA -TCGA-D8-A1JE TCGA-D8-A1JE-01 NA -TCGA-D8-A1JI TCGA-D8-A1JI-01 NA -TCGA-D8-A1JJ TCGA-D8-A1JJ-01 NA -TCGA-D8-A1JK TCGA-D8-A1JK-01 NA -TCGA-D8-A1JL TCGA-D8-A1JL-01 NA -TCGA-D8-A1JM TCGA-D8-A1JM-01 NA -TCGA-D8-A1JN TCGA-D8-A1JN-01 NA -TCGA-D8-A1JP TCGA-D8-A1JP-01 NA -TCGA-D8-A1X5 TCGA-D8-A1X5-01 NA -TCGA-D8-A1X6 TCGA-D8-A1X6-01 NA -TCGA-D8-A1X7 TCGA-D8-A1X7-01 NA -TCGA-D8-A1X8 TCGA-D8-A1X8-01 NA -TCGA-D8-A1X9 TCGA-D8-A1X9-01 NA -TCGA-D8-A1XA TCGA-D8-A1XA-01 NA -TCGA-D8-A1XB TCGA-D8-A1XB-01 NA -TCGA-D8-A1XC TCGA-D8-A1XC-01 NA -TCGA-D8-A1XD TCGA-D8-A1XD-01 NA -TCGA-D8-A1XF TCGA-D8-A1XF-01 NA -TCGA-D8-A1XG TCGA-D8-A1XG-01 NA -TCGA-D8-A1XJ TCGA-D8-A1XJ-01 NA -TCGA-D8-A1XK TCGA-D8-A1XK-01 NA -TCGA-D8-A1XL TCGA-D8-A1XL-01 NA -TCGA-D8-A1XM TCGA-D8-A1XM-01 NA -TCGA-D8-A1XQ TCGA-D8-A1XQ-01 NA -TCGA-D8-A1XR TCGA-D8-A1XR-01 NA -TCGA-D8-A1XU TCGA-D8-A1XU-01 NA -TCGA-D8-A1XV TCGA-D8-A1XV-01 NA -TCGA-D8-A1XW TCGA-D8-A1XW-01 NA -TCGA-D8-A1XY TCGA-D8-A1XY-01 NA -TCGA-D8-A1XZ TCGA-D8-A1XZ-01 NA -TCGA-D8-A1Y0 TCGA-D8-A1Y0-01 NA -TCGA-D8-A1Y1 TCGA-D8-A1Y1-01 NA -TCGA-D8-A1Y2 TCGA-D8-A1Y2-01 NA -TCGA-D8-A1Y3 TCGA-D8-A1Y3-01 NA -TCGA-D8-A27E TCGA-D8-A27E-01 NA -TCGA-D8-A27F TCGA-D8-A27F-01 NA -TCGA-D8-A27G TCGA-D8-A27G-01 NA -TCGA-D8-A27H TCGA-D8-A27H-01 NA -TCGA-D8-A27I TCGA-D8-A27I-01 NA -TCGA-D8-A27K TCGA-D8-A27K-01 NA -TCGA-D8-A27L TCGA-D8-A27L-01 NA -TCGA-D8-A27M TCGA-D8-A27M-01 NA -TCGA-D8-A27N TCGA-D8-A27N-01 NA -TCGA-D8-A27P TCGA-D8-A27P-01 NA -TCGA-D8-A27R TCGA-D8-A27R-01 NA -TCGA-D8-A27T TCGA-D8-A27T-01 NA -TCGA-D8-A27V TCGA-D8-A27V-01 NA -TCGA-D8-A27W TCGA-D8-A27W-01 NA -TCGA-E2-A1IE TCGA-E2-A1IE-01 NA -TCGA-E2-A1IF TCGA-E2-A1IF-01 NA -TCGA-E2-A1IG TCGA-E2-A1IG-01 NA -TCGA-E2-A1IH TCGA-E2-A1IH-01 NA -TCGA-E2-A1II TCGA-E2-A1II-01 NA -TCGA-E2-A1IJ TCGA-E2-A1IJ-01 NA -TCGA-E2-A1IK TCGA-E2-A1IK-01 NA -TCGA-E2-A1IL TCGA-E2-A1IL-01 NA -TCGA-E2-A1IN TCGA-E2-A1IN-01 NA -TCGA-E2-A1IO TCGA-E2-A1IO-01 NA -TCGA-E2-A1IP TCGA-E2-A1IP-01 NA -TCGA-E2-A1IU TCGA-E2-A1IU-01 NA -TCGA-E2-A1L6 TCGA-E2-A1L6-01 NA -TCGA-E2-A1L7 TCGA-E2-A1L7-01 NA -TCGA-E2-A1L8 TCGA-E2-A1L8-01 NA -TCGA-E2-A1L9 TCGA-E2-A1L9-01 NA -TCGA-E2-A1LA TCGA-E2-A1LA-01 NA -TCGA-E2-A1LB TCGA-E2-A1LB-01 NA -TCGA-E2-A1LG TCGA-E2-A1LG-01 NA -TCGA-E2-A1LH TCGA-E2-A1LH-01 NA -TCGA-E2-A1LI TCGA-E2-A1LI-01 NA -TCGA-E2-A1LL TCGA-E2-A1LL-01 NA -TCGA-E2-A1LS TCGA-E2-A1LS-01 NA -TCGA-E9-A1N3 TCGA-E9-A1N3-01 NA -TCGA-E9-A1N4 TCGA-E9-A1N4-01 NA -TCGA-E9-A1N5 TCGA-E9-A1N5-01 NA -TCGA-E9-A1N6 TCGA-E9-A1N6-01 NA -TCGA-E9-A1N8 TCGA-E9-A1N8-01 NA -TCGA-E9-A1N9 TCGA-E9-A1N9-01 NA -TCGA-E9-A1NA TCGA-E9-A1NA-01 NA -TCGA-E9-A1NC TCGA-E9-A1NC-01 NA -TCGA-E9-A1ND TCGA-E9-A1ND-01 NA -TCGA-E9-A1NE TCGA-E9-A1NE-01 NA -TCGA-E9-A1NF TCGA-E9-A1NF-01 NA -TCGA-E9-A1NG TCGA-E9-A1NG-01 NA -TCGA-E9-A1NH TCGA-E9-A1NH-01 NA -TCGA-E9-A1NI TCGA-E9-A1NI-01 NA -TCGA-E9-A1QZ TCGA-E9-A1QZ-01 NA -TCGA-E9-A1R0 TCGA-E9-A1R0-01 NA -TCGA-E9-A1R2 TCGA-E9-A1R2-01 NA -TCGA-E9-A1R3 TCGA-E9-A1R3-01 NA -TCGA-E9-A1R4 TCGA-E9-A1R4-01 NA -TCGA-E9-A1R5 TCGA-E9-A1R5-01 NA -TCGA-E9-A1R6 TCGA-E9-A1R6-01 NA -TCGA-E9-A1R7 TCGA-E9-A1R7-01 NA -TCGA-E9-A1RA TCGA-E9-A1RA-01 NA -TCGA-E9-A1RB TCGA-E9-A1RB-01 NA -TCGA-E9-A1RC TCGA-E9-A1RC-01 NA -TCGA-E9-A1RD TCGA-E9-A1RD-01 NA -TCGA-E9-A1RE TCGA-E9-A1RE-01 NA -TCGA-E9-A1RF TCGA-E9-A1RF-01 NA -TCGA-E9-A1RG TCGA-E9-A1RG-01 NA -TCGA-E9-A1RH TCGA-E9-A1RH-01 NA -TCGA-E9-A1RI TCGA-E9-A1RI-01 NA -TCGA-E9-A226 TCGA-E9-A226-01 NA -TCGA-E9-A227 TCGA-E9-A227-01 NA -TCGA-E9-A228 TCGA-E9-A228-01 NA -TCGA-E9-A229 TCGA-E9-A229-01 NA -TCGA-E9-A22A TCGA-E9-A22A-01 NA -TCGA-E9-A22B TCGA-E9-A22B-01 NA -TCGA-E9-A22D TCGA-E9-A22D-01 NA -TCGA-E9-A22E TCGA-E9-A22E-01 NA -TCGA-E9-A22G TCGA-E9-A22G-01 NA -TCGA-E9-A22H TCGA-E9-A22H-01 NA -TCGA-E9-A243 TCGA-E9-A243-01 NA -TCGA-E9-A244 TCGA-E9-A244-01 NA -TCGA-E9-A245 TCGA-E9-A245-01 NA -TCGA-E9-A247 TCGA-E9-A247-01 NA -TCGA-E9-A248 TCGA-E9-A248-01 NA -TCGA-E9-A249 TCGA-E9-A249-01 NA -TCGA-E9-A24A TCGA-E9-A24A-01 NA -TCGA-EW-A1IW TCGA-EW-A1IW-01 NA -TCGA-EW-A1IX TCGA-EW-A1IX-01 NA -TCGA-EW-A1IY TCGA-EW-A1IY-01 NA -TCGA-EW-A1IZ TCGA-EW-A1IZ-01 NA -TCGA-EW-A1J1 TCGA-EW-A1J1-01 NA -TCGA-EW-A1J2 TCGA-EW-A1J2-01 NA -TCGA-EW-A1J3 TCGA-EW-A1J3-01 NA -TCGA-EW-A1J5 TCGA-EW-A1J5-01 NA -TCGA-EW-A1J6 TCGA-EW-A1J6-01 NA -TCGA-EW-A1OV TCGA-EW-A1OV-01 NA -TCGA-EW-A1OW TCGA-EW-A1OW-01 NA -TCGA-EW-A1OX TCGA-EW-A1OX-01 NA -TCGA-EW-A1OY TCGA-EW-A1OY-01 NA -TCGA-EW-A1OZ TCGA-EW-A1OZ-01 NA -TCGA-EW-A1P0 TCGA-EW-A1P0-01 NA -TCGA-EW-A1P1 TCGA-EW-A1P1-01 NA -TCGA-EW-A1P3 TCGA-EW-A1P3-01 NA -TCGA-EW-A1P4 TCGA-EW-A1P4-01 NA -TCGA-EW-A1P5 TCGA-EW-A1P5-01 NA -TCGA-EW-A1P6 TCGA-EW-A1P6-01 NA -TCGA-EW-A1P7 TCGA-EW-A1P7-01 NA -TCGA-EW-A1PA TCGA-EW-A1PA-01 NA -TCGA-EW-A1PB TCGA-EW-A1PB-01 NA -TCGA-EW-A1PD TCGA-EW-A1PD-01 NA -TCGA-EW-A1PE TCGA-EW-A1PE-01 NA -TCGA-EW-A1PF TCGA-EW-A1PF-01 NA -TCGA-EW-A1PG TCGA-EW-A1PG-01 NA -TCGA-EW-A1PH TCGA-EW-A1PH-01 NA -TCGA-EW-A2FS TCGA-EW-A2FS-01 NA -TCGA-EW-A2FV TCGA-EW-A2FV-01 NA -TCGA-EW-A2FW TCGA-EW-A2FW-01 NA -TCGA-GM-A2DA TCGA-GM-A2DA-01 NA -TCGA-GM-A2DB TCGA-GM-A2DB-01 NA -TCGA-GM-A2DC TCGA-GM-A2DC-01 NA -TCGA-GM-A2DD TCGA-GM-A2DD-01 NA -TCGA-GM-A2DF TCGA-GM-A2DF-01 NA -TCGA-GM-A2DH TCGA-GM-A2DH-01 NA -TCGA-GM-A2DI TCGA-GM-A2DI-01 NA -TCGA-GM-A2DK TCGA-GM-A2DK-01 NA -TCGA-GM-A2DL TCGA-GM-A2DL-01 NA -TCGA-GM-A2DM TCGA-GM-A2DM-01 NA -TCGA-GM-A2DN TCGA-GM-A2DN-01 NA -TCGA-GM-A2DO TCGA-GM-A2DO-01 NA -TCGA-AR-A24W TCGA-AR-A24W-01 NA -TEST-A2B8 TEST-A2B8-01 NA -TEST-A2FF TEST-A2FF-01 NA -TEST-A2FB TEST-A2FB-01 NA -TEST-A2FG TEST-A2FG-01 NA -TCGA-GI-A2C8 TCGA-GI-A2C8-01 NA -TCGA-E9-A295 TCGA-E9-A295-01 NA -TCGA-E2-A15E TCGA-E2-A15E-06 NA -TCGA-A2-A0T2 TCGA-A2-A0T2-01 NA -TEST_PATIENT_1 TEST_SAMPLE_1 NA -TEST_PATIENT_2 TEST_SAMPLE_2 NA -TEST_PATIENT_3 TEST_SAMPLE_3 NA -TEST_PATIENT_4 TEST_SAMPLE_4 NA -TEST_PATIENT_5 TEST_SAMPLE_5 NA -TEST_PATIENT_6 TEST_SAMPLE_6 NA -TEST_PATIENT_7 TEST_SAMPLE_7 NA -TEST_PATIENT_8 TEST_SAMPLE_8 NA -TEST_PATIENT_9 TEST_SAMPLE_9 NA -TEST_PATIENT_10 TEST_SAMPLE_10 NA -TEST_PATIENT_11 TEST_SAMPLE_11 NA -TEST_PATIENT_12 TEST_SAMPLE_12 NA -TEST_PATIENT_13 TEST_SAMPLE_13 NA -TEST_PATIENT_14 TEST_SAMPLE_14 NA -TEST_PATIENT_15 TEST_SAMPLE_15 NA -TEST_PATIENT_NAMESPACE TEST_SAMPLE_SOMATIC_HOMOZYGOUS NA -TEST_PATIENT_NAMESPACE TEST_SAMPLE_SOMATIC_HETEROZYGOUS NA -TEST_PATIENT_NAMESPACE TEST_SAMPLE_SOMATIC_UNDEFINED NA diff --git a/end-to-end-test/local/test_data/study_es_0/data_cna_discrete.txt b/end-to-end-test/local/test_data/study_es_0/data_cna_discrete.txt deleted file mode 100644 index a45f488a5e7..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_cna_discrete.txt +++ /dev/null @@ -1,6305 +0,0 @@ -Hugo_Symbol Entrez_Gene_Id Sample_Id Value cbp_driver cbp_driver_annotation cbp_driver_tiers cbp_driver_tiers_annotation MyNamespace.column1 MyNamespace.column2 MyNamespace2.blarp -ACAP3 116983 TCGA-A1-A0SB-01 0 -AGRN 375790 TCGA-A1-A0SB-01 0 -ATAD3A 55210 TCGA-A1-A0SB-01 0 -ATAD3B 83858 TCGA-A1-A0SB-01 0 -ATAD3C 219293 TCGA-A1-A0SB-01 0 -AURKAIP1 54998 TCGA-A1-A0SB-01 0 -ERCC5 2073 TCGA-A1-A0SB-01 0 -ACP3 55 TCGA-A1-A0SB-01 0 -ACAP3 116983 TCGA-A1-A0SD-01 -1 -AGRN 375790 TCGA-A1-A0SD-01 -1 -ATAD3A 55210 TCGA-A1-A0SD-01 -1 -ATAD3B 83858 TCGA-A1-A0SD-01 -1 -ATAD3C 219293 TCGA-A1-A0SD-01 -1 -AURKAIP1 54998 TCGA-A1-A0SD-01 -1 -ERCC5 2073 TCGA-A1-A0SD-01 -1 -ACP3 55 TCGA-A1-A0SD-01 0 -ACAP3 116983 TCGA-A1-A0SE-01 0 -AGRN 375790 TCGA-A1-A0SE-01 0 -ATAD3A 55210 TCGA-A1-A0SE-01 0 -ATAD3B 83858 TCGA-A1-A0SE-01 0 -ATAD3C 219293 TCGA-A1-A0SE-01 0 -AURKAIP1 54998 TCGA-A1-A0SE-01 0 -ERCC5 2073 TCGA-A1-A0SE-01 0 -ACP3 55 TCGA-A1-A0SE-01 0 -ACAP3 116983 TCGA-A1-A0SF-01 0 -AGRN 375790 TCGA-A1-A0SF-01 0 -ATAD3A 55210 TCGA-A1-A0SF-01 0 -ATAD3B 83858 TCGA-A1-A0SF-01 0 -ATAD3C 219293 TCGA-A1-A0SF-01 0 -AURKAIP1 54998 TCGA-A1-A0SF-01 0 -ERCC5 2073 TCGA-A1-A0SF-01 0 -ACP3 55 TCGA-A1-A0SF-01 0 -ACAP3 116983 TCGA-A1-A0SG-01 0 -AGRN 375790 TCGA-A1-A0SG-01 0 -ATAD3A 55210 TCGA-A1-A0SG-01 0 -ATAD3B 83858 TCGA-A1-A0SG-01 0 -ATAD3C 219293 TCGA-A1-A0SG-01 0 -AURKAIP1 54998 TCGA-A1-A0SG-01 0 -ERCC5 2073 TCGA-A1-A0SG-01 0 -ACP3 55 TCGA-A1-A0SG-01 0 -ACAP3 116983 TCGA-A1-A0SH-01 -1 -AGRN 375790 TCGA-A1-A0SH-01 -1 -ATAD3A 55210 TCGA-A1-A0SH-01 -1 -ATAD3B 83858 TCGA-A1-A0SH-01 -1 -ATAD3C 219293 TCGA-A1-A0SH-01 -1 -AURKAIP1 54998 TCGA-A1-A0SH-01 -1 -ERCC5 2073 TCGA-A1-A0SH-01 -1 -ACP3 55 TCGA-A1-A0SH-01 0 -ACAP3 116983 TCGA-A1-A0SI-01 0 -AGRN 375790 TCGA-A1-A0SI-01 0 -ATAD3A 55210 TCGA-A1-A0SI-01 0 -ATAD3B 83858 TCGA-A1-A0SI-01 0 -ATAD3C 219293 TCGA-A1-A0SI-01 0 -AURKAIP1 54998 TCGA-A1-A0SI-01 0 -ERCC5 2073 TCGA-A1-A0SI-01 0 -ACP3 55 TCGA-A1-A0SI-01 0 -ACAP3 116983 TCGA-A1-A0SJ-01 0 -AGRN 375790 TCGA-A1-A0SJ-01 0 -ATAD3A 55210 TCGA-A1-A0SJ-01 0 -ATAD3B 83858 TCGA-A1-A0SJ-01 0 -ATAD3C 219293 TCGA-A1-A0SJ-01 0 -AURKAIP1 54998 TCGA-A1-A0SJ-01 0 -ERCC5 2073 TCGA-A1-A0SJ-01 0 -ACP3 55 TCGA-A1-A0SJ-01 0 -ACAP3 116983 TCGA-A1-A0SK-01 0 -AGRN 375790 TCGA-A1-A0SK-01 0 -ATAD3A 55210 TCGA-A1-A0SK-01 0 -ATAD3B 83858 TCGA-A1-A0SK-01 0 -ATAD3C 219293 TCGA-A1-A0SK-01 0 -AURKAIP1 54998 TCGA-A1-A0SK-01 0 -ERCC5 2073 TCGA-A1-A0SK-01 0 -ACP3 55 TCGA-A1-A0SK-01 0 -ACAP3 116983 TCGA-A1-A0SM-01 -1 -AGRN 375790 TCGA-A1-A0SM-01 -1 -ATAD3A 55210 TCGA-A1-A0SM-01 -1 -ATAD3B 83858 TCGA-A1-A0SM-01 -1 -ATAD3C 219293 TCGA-A1-A0SM-01 -1 -AURKAIP1 54998 TCGA-A1-A0SM-01 -1 -ERCC5 2073 TCGA-A1-A0SM-01 -1 -ACP3 55 TCGA-A1-A0SM-01 0 -ACAP3 116983 TCGA-A1-A0SN-01 -1 -AGRN 375790 TCGA-A1-A0SN-01 -1 -ATAD3A 55210 TCGA-A1-A0SN-01 -1 -ATAD3B 83858 TCGA-A1-A0SN-01 -1 -ATAD3C 219293 TCGA-A1-A0SN-01 -1 -AURKAIP1 54998 TCGA-A1-A0SN-01 -1 -ERCC5 2073 TCGA-A1-A0SN-01 -1 -ACP3 55 TCGA-A1-A0SN-01 0 -ACAP3 116983 TCGA-A1-A0SO-01 -1 -AGRN 375790 TCGA-A1-A0SO-01 -1 -ATAD3A 55210 TCGA-A1-A0SO-01 -1 -ATAD3B 83858 TCGA-A1-A0SO-01 -1 -ATAD3C 219293 TCGA-A1-A0SO-01 -1 -AURKAIP1 54998 TCGA-A1-A0SO-01 -1 -ERCC5 2073 TCGA-A1-A0SO-01 -1 -ACP3 55 TCGA-A1-A0SO-01 0 -ACAP3 116983 TCGA-A1-A0SP-01 0 -AGRN 375790 TCGA-A1-A0SP-01 0 -ATAD3A 55210 TCGA-A1-A0SP-01 0 -ATAD3B 83858 TCGA-A1-A0SP-01 0 -ATAD3C 219293 TCGA-A1-A0SP-01 0 -AURKAIP1 54998 TCGA-A1-A0SP-01 0 -ERCC5 2073 TCGA-A1-A0SP-01 0 -ACP3 55 TCGA-A1-A0SP-01 0 -ACAP3 116983 TCGA-A1-A0SQ-01 0 -AGRN 375790 TCGA-A1-A0SQ-01 0 -ATAD3A 55210 TCGA-A1-A0SQ-01 0 -ATAD3B 83858 TCGA-A1-A0SQ-01 0 -ATAD3C 219293 TCGA-A1-A0SQ-01 0 -AURKAIP1 54998 TCGA-A1-A0SQ-01 0 -ERCC5 2073 TCGA-A1-A0SQ-01 0 -ACP3 55 TCGA-A1-A0SQ-01 0 -ACAP3 116983 TCGA-A2-A04N-01 0 -AGRN 375790 TCGA-A2-A04N-01 0 -ATAD3A 55210 TCGA-A2-A04N-01 0 -ATAD3B 83858 TCGA-A2-A04N-01 0 -ATAD3C 219293 TCGA-A2-A04N-01 0 -AURKAIP1 54998 TCGA-A2-A04N-01 0 -ERCC5 2073 TCGA-A2-A04N-01 0 -ACP3 55 TCGA-A2-A04N-01 0 -ACAP3 116983 TCGA-A2-A04P-01 0 -AGRN 375790 TCGA-A2-A04P-01 0 -ATAD3A 55210 TCGA-A2-A04P-01 0 -ATAD3B 83858 TCGA-A2-A04P-01 0 -ATAD3C 219293 TCGA-A2-A04P-01 0 -AURKAIP1 54998 TCGA-A2-A04P-01 0 -ERCC5 2073 TCGA-A2-A04P-01 0 -ACP3 55 TCGA-A2-A04P-01 0 -ACAP3 116983 TCGA-A2-A04Q-01 0 -AGRN 375790 TCGA-A2-A04Q-01 0 -ATAD3A 55210 TCGA-A2-A04Q-01 0 -ATAD3B 83858 TCGA-A2-A04Q-01 0 -ATAD3C 219293 TCGA-A2-A04Q-01 0 -AURKAIP1 54998 TCGA-A2-A04Q-01 0 -ERCC5 2073 TCGA-A2-A04Q-01 0 -ACP3 55 TCGA-A2-A04Q-01 0 -ACAP3 116983 TCGA-A2-A04R-01 -1 -AGRN 375790 TCGA-A2-A04R-01 -1 -ATAD3A 55210 TCGA-A2-A04R-01 -1 -ATAD3B 83858 TCGA-A2-A04R-01 -1 -ATAD3C 219293 TCGA-A2-A04R-01 -1 -AURKAIP1 54998 TCGA-A2-A04R-01 -1 -ERCC5 2073 TCGA-A2-A04R-01 -1 -ACP3 55 TCGA-A2-A04R-01 0 -ACAP3 116983 TCGA-A2-A04T-01 0 -AGRN 375790 TCGA-A2-A04T-01 0 -ATAD3A 55210 TCGA-A2-A04T-01 0 -ATAD3B 83858 TCGA-A2-A04T-01 0 -ATAD3C 219293 TCGA-A2-A04T-01 0 -AURKAIP1 54998 TCGA-A2-A04T-01 0 -ERCC5 2073 TCGA-A2-A04T-01 0 -ACP3 55 TCGA-A2-A04T-01 0 -ACAP3 116983 TCGA-A2-A04U-01 2 Putative_Passenger Test passenger Class 2 Class annotation value1b value2b bluirp2 -AGRN 375790 TCGA-A2-A04U-01 2 Putative_Driver Test driver Class 1 Class annotation -ATAD3A 55210 TCGA-A2-A04U-01 2 -ATAD3B 83858 TCGA-A2-A04U-01 2 -ATAD3C 219293 TCGA-A2-A04U-01 2 Putative_Passenger Test passenger -AURKAIP1 54998 TCGA-A2-A04U-01 2 -ERCC5 2073 TCGA-A2-A04U-01 2 Putative_Driver Test driver -ACP3 55 TCGA-A2-A04U-01 0 -ACAP3 116983 TCGA-A2-A04V-01 0 -AGRN 375790 TCGA-A2-A04V-01 0 -ATAD3A 55210 TCGA-A2-A04V-01 0 -ATAD3B 83858 TCGA-A2-A04V-01 0 -ATAD3C 219293 TCGA-A2-A04V-01 0 -AURKAIP1 54998 TCGA-A2-A04V-01 0 -ERCC5 2073 TCGA-A2-A04V-01 0 -ACP3 55 TCGA-A2-A04V-01 0 -ACAP3 116983 TCGA-A2-A04W-01 0 -AGRN 375790 TCGA-A2-A04W-01 0 -ATAD3A 55210 TCGA-A2-A04W-01 0 -ATAD3B 83858 TCGA-A2-A04W-01 0 -ATAD3C 219293 TCGA-A2-A04W-01 0 -AURKAIP1 54998 TCGA-A2-A04W-01 0 -ERCC5 2073 TCGA-A2-A04W-01 0 -ACP3 55 TCGA-A2-A04W-01 0 -ACAP3 116983 TCGA-A2-A04X-01 0 -AGRN 375790 TCGA-A2-A04X-01 0 -ATAD3A 55210 TCGA-A2-A04X-01 0 -ATAD3B 83858 TCGA-A2-A04X-01 0 -ATAD3C 219293 TCGA-A2-A04X-01 0 -AURKAIP1 54998 TCGA-A2-A04X-01 0 -ERCC5 2073 TCGA-A2-A04X-01 0 -ACP3 55 TCGA-A2-A04X-01 0 -ACAP3 116983 TCGA-A2-A04Y-01 1 -AGRN 375790 TCGA-A2-A04Y-01 1 -ATAD3A 55210 TCGA-A2-A04Y-01 1 -ATAD3B 83858 TCGA-A2-A04Y-01 1 -ATAD3C 219293 TCGA-A2-A04Y-01 1 -AURKAIP1 54998 TCGA-A2-A04Y-01 1 -ERCC5 2073 TCGA-A2-A04Y-01 1 -ACP3 55 TCGA-A2-A04Y-01 0 -ACAP3 116983 TCGA-A2-A0CL-01 0 -AGRN 375790 TCGA-A2-A0CL-01 0 -ATAD3A 55210 TCGA-A2-A0CL-01 0 -ATAD3B 83858 TCGA-A2-A0CL-01 0 -ATAD3C 219293 TCGA-A2-A0CL-01 0 -AURKAIP1 54998 TCGA-A2-A0CL-01 0 -ERCC5 2073 TCGA-A2-A0CL-01 0 -ACP3 55 TCGA-A2-A0CL-01 0 -ACAP3 116983 TCGA-A2-A0CM-01 0 -AGRN 375790 TCGA-A2-A0CM-01 0 -ATAD3A 55210 TCGA-A2-A0CM-01 0 -ATAD3B 83858 TCGA-A2-A0CM-01 0 -ATAD3C 219293 TCGA-A2-A0CM-01 0 -AURKAIP1 54998 TCGA-A2-A0CM-01 0 -ERCC5 2073 TCGA-A2-A0CM-01 0 -ACP3 55 TCGA-A2-A0CM-01 0 -ACAP3 116983 TCGA-A2-A0CP-01 0 -AGRN 375790 TCGA-A2-A0CP-01 0 -ATAD3A 55210 TCGA-A2-A0CP-01 0 -ATAD3B 83858 TCGA-A2-A0CP-01 0 -ATAD3C 219293 TCGA-A2-A0CP-01 0 -AURKAIP1 54998 TCGA-A2-A0CP-01 0 -ERCC5 2073 TCGA-A2-A0CP-01 0 -ACP3 55 TCGA-A2-A0CP-01 0 -ACAP3 116983 TCGA-A2-A0CQ-01 0 -AGRN 375790 TCGA-A2-A0CQ-01 0 -ATAD3A 55210 TCGA-A2-A0CQ-01 0 -ATAD3B 83858 TCGA-A2-A0CQ-01 0 -ATAD3C 219293 TCGA-A2-A0CQ-01 0 -AURKAIP1 54998 TCGA-A2-A0CQ-01 0 -ERCC5 2073 TCGA-A2-A0CQ-01 0 -ACP3 55 TCGA-A2-A0CQ-01 0 -ACAP3 116983 TCGA-A2-A0CS-01 -1 -AGRN 375790 TCGA-A2-A0CS-01 -1 -ATAD3A 55210 TCGA-A2-A0CS-01 -1 -ATAD3B 83858 TCGA-A2-A0CS-01 -1 -ATAD3C 219293 TCGA-A2-A0CS-01 -1 -AURKAIP1 54998 TCGA-A2-A0CS-01 -1 -ERCC5 2073 TCGA-A2-A0CS-01 -1 -ACP3 55 TCGA-A2-A0CS-01 0 -ACAP3 116983 TCGA-A2-A0CT-01 -1 -AGRN 375790 TCGA-A2-A0CT-01 -1 -ATAD3A 55210 TCGA-A2-A0CT-01 -1 -ATAD3B 83858 TCGA-A2-A0CT-01 -1 -ATAD3C 219293 TCGA-A2-A0CT-01 -1 -AURKAIP1 54998 TCGA-A2-A0CT-01 -1 -ERCC5 2073 TCGA-A2-A0CT-01 -1 -ACP3 55 TCGA-A2-A0CT-01 0 -ACAP3 116983 TCGA-A2-A0CU-01 0 -AGRN 375790 TCGA-A2-A0CU-01 0 -ATAD3A 55210 TCGA-A2-A0CU-01 0 -ATAD3B 83858 TCGA-A2-A0CU-01 0 -ATAD3C 219293 TCGA-A2-A0CU-01 0 -AURKAIP1 54998 TCGA-A2-A0CU-01 0 -ERCC5 2073 TCGA-A2-A0CU-01 0 -ACP3 55 TCGA-A2-A0CU-01 0 -ACAP3 116983 TCGA-A2-A0CV-01 0 -AGRN 375790 TCGA-A2-A0CV-01 0 -ATAD3A 55210 TCGA-A2-A0CV-01 0 -ATAD3B 83858 TCGA-A2-A0CV-01 0 -ATAD3C 219293 TCGA-A2-A0CV-01 0 -AURKAIP1 54998 TCGA-A2-A0CV-01 0 -ERCC5 2073 TCGA-A2-A0CV-01 0 -ACP3 55 TCGA-A2-A0CV-01 0 -ACAP3 116983 TCGA-A2-A0CW-01 -1 -AGRN 375790 TCGA-A2-A0CW-01 -1 -ATAD3A 55210 TCGA-A2-A0CW-01 -1 -ATAD3B 83858 TCGA-A2-A0CW-01 -1 -ATAD3C 219293 TCGA-A2-A0CW-01 -1 -AURKAIP1 54998 TCGA-A2-A0CW-01 -1 -ERCC5 2073 TCGA-A2-A0CW-01 -1 -ACP3 55 TCGA-A2-A0CW-01 0 -ACAP3 116983 TCGA-A2-A0CX-01 0 -AGRN 375790 TCGA-A2-A0CX-01 0 -ATAD3A 55210 TCGA-A2-A0CX-01 0 -ATAD3B 83858 TCGA-A2-A0CX-01 0 -ATAD3C 219293 TCGA-A2-A0CX-01 0 -AURKAIP1 54998 TCGA-A2-A0CX-01 0 -ERCC5 2073 TCGA-A2-A0CX-01 0 -ACP3 55 TCGA-A2-A0CX-01 0 -ACAP3 116983 TCGA-A2-A0D0-01 1 -AGRN 375790 TCGA-A2-A0D0-01 1 -ATAD3A 55210 TCGA-A2-A0D0-01 1 -ATAD3B 83858 TCGA-A2-A0D0-01 1 -ATAD3C 219293 TCGA-A2-A0D0-01 1 -AURKAIP1 54998 TCGA-A2-A0D0-01 1 -ERCC5 2073 TCGA-A2-A0D0-01 1 -ACP3 55 TCGA-A2-A0D0-01 0 -ACAP3 116983 TCGA-A2-A0D1-01 0 -AGRN 375790 TCGA-A2-A0D1-01 0 -ATAD3A 55210 TCGA-A2-A0D1-01 0 -ATAD3B 83858 TCGA-A2-A0D1-01 0 -ATAD3C 219293 TCGA-A2-A0D1-01 0 -AURKAIP1 54998 TCGA-A2-A0D1-01 0 -ERCC5 2073 TCGA-A2-A0D1-01 0 -ACP3 55 TCGA-A2-A0D1-01 0 -ACAP3 116983 TCGA-A2-A0D2-01 0 -AGRN 375790 TCGA-A2-A0D2-01 0 -ATAD3A 55210 TCGA-A2-A0D2-01 0 -ATAD3B 83858 TCGA-A2-A0D2-01 0 -ATAD3C 219293 TCGA-A2-A0D2-01 0 -AURKAIP1 54998 TCGA-A2-A0D2-01 0 -ERCC5 2073 TCGA-A2-A0D2-01 0 -ACP3 55 TCGA-A2-A0D2-01 0 -ACAP3 116983 TCGA-A2-A0D3-01 0 -AGRN 375790 TCGA-A2-A0D3-01 0 -ATAD3A 55210 TCGA-A2-A0D3-01 0 -ATAD3B 83858 TCGA-A2-A0D3-01 0 -ATAD3C 219293 TCGA-A2-A0D3-01 0 -AURKAIP1 54998 TCGA-A2-A0D3-01 0 -ERCC5 2073 TCGA-A2-A0D3-01 0 -ACP3 55 TCGA-A2-A0D3-01 0 -ACAP3 116983 TCGA-A2-A0D4-01 -1 -AGRN 375790 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219293 TCGA-A2-A1FV-01 0 -AURKAIP1 54998 TCGA-A2-A1FV-01 0 -ERCC5 2073 TCGA-A2-A1FV-01 0 -ACP3 55 TCGA-A2-A1FV-01 0 -ACAP3 116983 TCGA-A2-A1FW-01 0 -AGRN 375790 TCGA-A2-A1FW-01 0 -ATAD3A 55210 TCGA-A2-A1FW-01 0 -ATAD3B 83858 TCGA-A2-A1FW-01 0 -ATAD3C 219293 TCGA-A2-A1FW-01 0 -AURKAIP1 54998 TCGA-A2-A1FW-01 0 -ERCC5 2073 TCGA-A2-A1FW-01 0 -ACP3 55 TCGA-A2-A1FW-01 0 -ACAP3 116983 TCGA-A2-A1FX-01 -1 -AGRN 375790 TCGA-A2-A1FX-01 -1 -ATAD3A 55210 TCGA-A2-A1FX-01 -1 -ATAD3B 83858 TCGA-A2-A1FX-01 -1 -ATAD3C 219293 TCGA-A2-A1FX-01 -1 -AURKAIP1 54998 TCGA-A2-A1FX-01 -1 -ERCC5 2073 TCGA-A2-A1FX-01 -1 -ACP3 55 TCGA-A2-A1FX-01 0 -ACAP3 116983 TCGA-A2-A1FZ-01 0 -AGRN 375790 TCGA-A2-A1FZ-01 0 -ATAD3A 55210 TCGA-A2-A1FZ-01 0 -ATAD3B 83858 TCGA-A2-A1FZ-01 0 -ATAD3C 219293 TCGA-A2-A1FZ-01 0 -AURKAIP1 54998 TCGA-A2-A1FZ-01 0 -ERCC5 2073 TCGA-A2-A1FZ-01 0 -ACP3 55 TCGA-A2-A1FZ-01 0 -ACAP3 116983 TCGA-A2-A1G0-01 1 -AGRN 375790 TCGA-A2-A1G0-01 1 -ATAD3A 55210 TCGA-A2-A1G0-01 1 -ATAD3B 83858 TCGA-A2-A1G0-01 1 -ATAD3C 219293 TCGA-A2-A1G0-01 1 -AURKAIP1 54998 TCGA-A2-A1G0-01 1 -ERCC5 2073 TCGA-A2-A1G0-01 1 -ACP3 55 TCGA-A2-A1G0-01 0 -ACAP3 116983 TCGA-A2-A1G1-01 0 -AGRN 375790 TCGA-A2-A1G1-01 0 -ATAD3A 55210 TCGA-A2-A1G1-01 0 -ATAD3B 83858 TCGA-A2-A1G1-01 0 -ATAD3C 219293 TCGA-A2-A1G1-01 0 -AURKAIP1 54998 TCGA-A2-A1G1-01 0 -ERCC5 2073 TCGA-A2-A1G1-01 0 -ACP3 55 TCGA-A2-A1G1-01 0 -ACAP3 116983 TCGA-A2-A1G4-01 0 -AGRN 375790 TCGA-A2-A1G4-01 0 -ATAD3A 55210 TCGA-A2-A1G4-01 0 -ATAD3B 83858 TCGA-A2-A1G4-01 0 -ATAD3C 219293 TCGA-A2-A1G4-01 0 -AURKAIP1 54998 TCGA-A2-A1G4-01 0 -ERCC5 2073 TCGA-A2-A1G4-01 0 -ACP3 55 TCGA-A2-A1G4-01 0 -ACAP3 116983 TCGA-A2-A1G6-01 0 -AGRN 375790 TCGA-A2-A1G6-01 0 -ATAD3A 55210 TCGA-A2-A1G6-01 0 -ATAD3B 83858 TCGA-A2-A1G6-01 0 -ATAD3C 219293 TCGA-A2-A1G6-01 0 -AURKAIP1 54998 TCGA-A2-A1G6-01 0 -ERCC5 2073 TCGA-A2-A1G6-01 0 -ACP3 55 TCGA-A2-A1G6-01 0 -ACAP3 116983 TCGA-A2-A259-01 0 -AGRN 375790 TCGA-A2-A259-01 0 -ATAD3A 55210 TCGA-A2-A259-01 0 -ATAD3B 83858 TCGA-A2-A259-01 0 -ATAD3C 219293 TCGA-A2-A259-01 0 -AURKAIP1 54998 TCGA-A2-A259-01 0 -ERCC5 2073 TCGA-A2-A259-01 0 -ACP3 55 TCGA-A2-A259-01 0 -ACAP3 116983 TCGA-A2-A25A-01 0 -AGRN 375790 TCGA-A2-A25A-01 0 -ATAD3A 55210 TCGA-A2-A25A-01 0 -ATAD3B 83858 TCGA-A2-A25A-01 0 -ATAD3C 219293 TCGA-A2-A25A-01 0 -AURKAIP1 54998 TCGA-A2-A25A-01 0 -ERCC5 2073 TCGA-A2-A25A-01 0 -ACP3 55 TCGA-A2-A25A-01 0 -ACAP3 116983 TCGA-A2-A25B-01 0 -AGRN 375790 TCGA-A2-A25B-01 0 -ATAD3A 55210 TCGA-A2-A25B-01 0 -ATAD3B 83858 TCGA-A2-A25B-01 0 -ATAD3C 219293 TCGA-A2-A25B-01 0 -AURKAIP1 54998 TCGA-A2-A25B-01 0 -ERCC5 2073 TCGA-A2-A25B-01 0 -ACP3 55 TCGA-A2-A25B-01 0 -ACAP3 116983 TCGA-A2-A25C-01 -1 -AGRN 375790 TCGA-A2-A25C-01 -1 -ATAD3A 55210 TCGA-A2-A25C-01 -1 -ATAD3B 83858 TCGA-A2-A25C-01 -1 -ATAD3C 219293 TCGA-A2-A25C-01 -1 -AURKAIP1 54998 TCGA-A2-A25C-01 -1 -ERCC5 2073 TCGA-A2-A25C-01 -1 -ACP3 55 TCGA-A2-A25C-01 0 -ACAP3 116983 TCGA-A2-A25D-01 0 -AGRN 375790 TCGA-A2-A25D-01 0 -ATAD3A 55210 TCGA-A2-A25D-01 0 -ATAD3B 83858 TCGA-A2-A25D-01 0 -ATAD3C 219293 TCGA-A2-A25D-01 0 -AURKAIP1 54998 TCGA-A2-A25D-01 0 -ERCC5 2073 TCGA-A2-A25D-01 0 -ACP3 55 TCGA-A2-A25D-01 0 -ACAP3 116983 TCGA-A2-A25E-01 0 -AGRN 375790 TCGA-A2-A25E-01 0 -ATAD3A 55210 TCGA-A2-A25E-01 0 -ATAD3B 83858 TCGA-A2-A25E-01 0 -ATAD3C 219293 TCGA-A2-A25E-01 0 -AURKAIP1 54998 TCGA-A2-A25E-01 0 -ERCC5 2073 TCGA-A2-A25E-01 0 -ACP3 55 TCGA-A2-A25E-01 0 -ACAP3 116983 TCGA-A2-A25F-01 0 -AGRN 375790 TCGA-A2-A25F-01 0 -ATAD3A 55210 TCGA-A2-A25F-01 0 -ATAD3B 83858 TCGA-A2-A25F-01 0 -ATAD3C 219293 TCGA-A2-A25F-01 0 -AURKAIP1 54998 TCGA-A2-A25F-01 0 -ERCC5 2073 TCGA-A2-A25F-01 0 -ACP3 55 TCGA-A2-A25F-01 0 -ACAP3 116983 TCGA-A7-A0CD-01 0 -AGRN 375790 TCGA-A7-A0CD-01 0 -ATAD3A 55210 TCGA-A7-A0CD-01 0 -ATAD3B 83858 TCGA-A7-A0CD-01 0 -ATAD3C 219293 TCGA-A7-A0CD-01 0 -AURKAIP1 54998 TCGA-A7-A0CD-01 0 -ERCC5 2073 TCGA-A7-A0CD-01 0 -ACP3 55 TCGA-A7-A0CD-01 0 -ACAP3 116983 TCGA-A7-A0CE-01 0 -AGRN 375790 TCGA-A7-A0CE-01 0 -ATAD3A 55210 TCGA-A7-A0CE-01 0 -ATAD3B 83858 TCGA-A7-A0CE-01 0 -ATAD3C 219293 TCGA-A7-A0CE-01 0 -AURKAIP1 54998 TCGA-A7-A0CE-01 0 -ERCC5 2073 TCGA-A7-A0CE-01 0 -ACP3 55 TCGA-A7-A0CE-01 0 -ACAP3 116983 TCGA-A7-A0CG-01 0 -AGRN 375790 TCGA-A7-A0CG-01 0 -ATAD3A 55210 TCGA-A7-A0CG-01 0 -ATAD3B 83858 TCGA-A7-A0CG-01 0 -ATAD3C 219293 TCGA-A7-A0CG-01 0 -AURKAIP1 54998 TCGA-A7-A0CG-01 0 -ERCC5 2073 TCGA-A7-A0CG-01 0 -ACP3 55 TCGA-A7-A0CG-01 0 -ACAP3 116983 TCGA-A7-A0CH-01 0 -AGRN 375790 TCGA-A7-A0CH-01 0 -ATAD3A 55210 TCGA-A7-A0CH-01 0 -ATAD3B 83858 TCGA-A7-A0CH-01 0 -ATAD3C 219293 TCGA-A7-A0CH-01 0 -AURKAIP1 54998 TCGA-A7-A0CH-01 0 -ERCC5 2073 TCGA-A7-A0CH-01 0 -ACP3 55 TCGA-A7-A0CH-01 0 -ACAP3 116983 TCGA-A7-A0CJ-01 0 -AGRN 375790 TCGA-A7-A0CJ-01 0 -ATAD3A 55210 TCGA-A7-A0CJ-01 0 -ATAD3B 83858 TCGA-A7-A0CJ-01 0 -ATAD3C 219293 TCGA-A7-A0CJ-01 0 -AURKAIP1 54998 TCGA-A7-A0CJ-01 0 -ERCC5 2073 TCGA-A7-A0CJ-01 0 -ACP3 55 TCGA-A7-A0CJ-01 0 -ACAP3 116983 TCGA-A7-A0D9-01 0 -AGRN 375790 TCGA-A7-A0D9-01 0 -ATAD3A 55210 TCGA-A7-A0D9-01 0 -ATAD3B 83858 TCGA-A7-A0D9-01 0 -ATAD3C 219293 TCGA-A7-A0D9-01 0 -AURKAIP1 54998 TCGA-A7-A0D9-01 0 -ERCC5 2073 TCGA-A7-A0D9-01 0 -ACP3 55 TCGA-A7-A0D9-01 0 -ACAP3 116983 TCGA-A7-A0DA-01 0 -AGRN 375790 TCGA-A7-A0DA-01 0 -ATAD3A 55210 TCGA-A7-A0DA-01 0 -ATAD3B 83858 TCGA-A7-A0DA-01 0 -ATAD3C 219293 TCGA-A7-A0DA-01 0 -AURKAIP1 54998 TCGA-A7-A0DA-01 0 -ERCC5 2073 TCGA-A7-A0DA-01 0 -ACP3 55 TCGA-A7-A0DA-01 0 -ACAP3 116983 TCGA-A7-A0DB-01 0 -AGRN 375790 TCGA-A7-A0DB-01 0 -ATAD3A 55210 TCGA-A7-A0DB-01 0 -ATAD3B 83858 TCGA-A7-A0DB-01 0 -ATAD3C 219293 TCGA-A7-A0DB-01 0 -AURKAIP1 54998 TCGA-A7-A0DB-01 0 -ERCC5 2073 TCGA-A7-A0DB-01 0 -ACP3 55 TCGA-A7-A0DB-01 0 -ACAP3 116983 TCGA-A7-A13D-01 0 -AGRN 375790 TCGA-A7-A13D-01 0 -ATAD3A 55210 TCGA-A7-A13D-01 0 -ATAD3B 83858 TCGA-A7-A13D-01 0 -ATAD3C 219293 TCGA-A7-A13D-01 0 -AURKAIP1 54998 TCGA-A7-A13D-01 0 -ERCC5 2073 TCGA-A7-A13D-01 0 -ACP3 55 TCGA-A7-A13D-01 0 -ACAP3 116983 TCGA-A7-A13E-01 0 -AGRN 375790 TCGA-A7-A13E-01 0 -ATAD3A 55210 TCGA-A7-A13E-01 0 -ATAD3B 83858 TCGA-A7-A13E-01 0 -ATAD3C 219293 TCGA-A7-A13E-01 0 -AURKAIP1 54998 TCGA-A7-A13E-01 0 -ERCC5 2073 TCGA-A7-A13E-01 0 -ACP3 55 TCGA-A7-A13E-01 0 -ACAP3 116983 TCGA-A7-A13F-01 -1 -AGRN 375790 TCGA-A7-A13F-01 -1 -ATAD3A 55210 TCGA-A7-A13F-01 -1 -ATAD3B 83858 TCGA-A7-A13F-01 -1 -ATAD3C 219293 TCGA-A7-A13F-01 -1 -AURKAIP1 54998 TCGA-A7-A13F-01 -1 -ERCC5 2073 TCGA-A7-A13F-01 -1 -ACP3 55 TCGA-A7-A13F-01 0 -ACAP3 116983 TCGA-A7-A13G-01 0 -AGRN 375790 TCGA-A7-A13G-01 0 -ATAD3A 55210 TCGA-A7-A13G-01 0 -ATAD3B 83858 TCGA-A7-A13G-01 0 -ATAD3C 219293 TCGA-A7-A13G-01 0 -AURKAIP1 54998 TCGA-A7-A13G-01 0 -ERCC5 2073 TCGA-A7-A13G-01 0 -ACP3 55 TCGA-A7-A13G-01 0 -ACAP3 116983 TCGA-A7-A26E-01 0 -AGRN 375790 TCGA-A7-A26E-01 0 -ATAD3A 55210 TCGA-A7-A26E-01 0 -ATAD3B 83858 TCGA-A7-A26E-01 0 -ATAD3C 219293 TCGA-A7-A26E-01 0 -AURKAIP1 54998 TCGA-A7-A26E-01 0 -ERCC5 2073 TCGA-A7-A26E-01 0 -ACP3 55 TCGA-A7-A26E-01 0 -ACAP3 116983 TCGA-A7-A26F-01 -2 -AGRN 375790 TCGA-A7-A26F-01 -2 -ATAD3A 55210 TCGA-A7-A26F-01 -2 Class 2 Class annotation -ATAD3B 83858 TCGA-A7-A26F-01 -2 Class 1 Class annotation -ATAD3C 219293 TCGA-A7-A26F-01 -2 -AURKAIP1 54998 TCGA-A7-A26F-01 -2 -ERCC5 2073 TCGA-A7-A26F-01 -2 Putative_Driver -ACP3 55 TCGA-A7-A26F-01 0 -ACAP3 116983 TCGA-A7-A26G-01 0 -AGRN 375790 TCGA-A7-A26G-01 0 -ATAD3A 55210 TCGA-A7-A26G-01 0 -ATAD3B 83858 TCGA-A7-A26G-01 0 -ATAD3C 219293 TCGA-A7-A26G-01 0 -AURKAIP1 54998 TCGA-A7-A26G-01 0 -ERCC5 2073 TCGA-A7-A26G-01 0 -ACP3 55 TCGA-A7-A26G-01 0 -ACAP3 116983 TCGA-A7-A26H-01 0 -AGRN 375790 TCGA-A7-A26H-01 0 -ATAD3A 55210 TCGA-A7-A26H-01 0 -ATAD3B 83858 TCGA-A7-A26H-01 0 -ATAD3C 219293 TCGA-A7-A26H-01 0 -AURKAIP1 54998 TCGA-A7-A26H-01 0 -ERCC5 2073 TCGA-A7-A26H-01 0 -ACP3 55 TCGA-A7-A26H-01 0 -ACAP3 116983 TCGA-A7-A26I-01 0 -AGRN 375790 TCGA-A7-A26I-01 0 -ATAD3A 55210 TCGA-A7-A26I-01 0 -ATAD3B 83858 TCGA-A7-A26I-01 0 -ATAD3C 219293 TCGA-A7-A26I-01 0 -AURKAIP1 54998 TCGA-A7-A26I-01 0 -ERCC5 2073 TCGA-A7-A26I-01 0 -ACP3 55 TCGA-A7-A26I-01 0 -ACAP3 116983 TCGA-A7-A26J-01 0 -AGRN 375790 TCGA-A7-A26J-01 0 -ATAD3A 55210 TCGA-A7-A26J-01 0 -ATAD3B 83858 TCGA-A7-A26J-01 0 -ATAD3C 219293 TCGA-A7-A26J-01 0 -AURKAIP1 54998 TCGA-A7-A26J-01 0 -ERCC5 2073 TCGA-A7-A26J-01 0 -ACP3 55 TCGA-A7-A26J-01 0 -ACAP3 116983 TCGA-A8-A06N-01 0 -AGRN 375790 TCGA-A8-A06N-01 0 -ATAD3A 55210 TCGA-A8-A06N-01 0 -ATAD3B 83858 TCGA-A8-A06N-01 0 -ATAD3C 219293 TCGA-A8-A06N-01 0 -AURKAIP1 54998 TCGA-A8-A06N-01 0 -ERCC5 2073 TCGA-A8-A06N-01 0 -ACP3 55 TCGA-A8-A06N-01 0 -ACAP3 116983 TCGA-A8-A06O-01 0 -AGRN 375790 TCGA-A8-A06O-01 0 -ATAD3A 55210 TCGA-A8-A06O-01 0 -ATAD3B 83858 TCGA-A8-A06O-01 0 -ATAD3C 219293 TCGA-A8-A06O-01 0 -AURKAIP1 54998 TCGA-A8-A06O-01 0 -ERCC5 2073 TCGA-A8-A06O-01 0 -ACP3 55 TCGA-A8-A06O-01 0 -ACAP3 116983 TCGA-A8-A06P-01 0 -AGRN 375790 TCGA-A8-A06P-01 0 -ATAD3A 55210 TCGA-A8-A06P-01 0 -ATAD3B 83858 TCGA-A8-A06P-01 0 -ATAD3C 219293 TCGA-A8-A06P-01 0 -AURKAIP1 54998 TCGA-A8-A06P-01 0 -ERCC5 2073 TCGA-A8-A06P-01 0 -ACP3 55 TCGA-A8-A06P-01 0 -ACAP3 116983 TCGA-A8-A06Q-01 0 -AGRN 375790 TCGA-A8-A06Q-01 0 -ATAD3A 55210 TCGA-A8-A06Q-01 0 -ATAD3B 83858 TCGA-A8-A06Q-01 0 -ATAD3C 219293 TCGA-A8-A06Q-01 0 -AURKAIP1 54998 TCGA-A8-A06Q-01 0 -ERCC5 2073 TCGA-A8-A06Q-01 0 -ACP3 55 TCGA-A8-A06Q-01 0 -ACAP3 116983 TCGA-A8-A06R-01 0 -AGRN 375790 TCGA-A8-A06R-01 0 -ATAD3A 55210 TCGA-A8-A06R-01 0 -ATAD3B 83858 TCGA-A8-A06R-01 0 -ATAD3C 219293 TCGA-A8-A06R-01 0 -AURKAIP1 54998 TCGA-A8-A06R-01 0 -ERCC5 2073 TCGA-A8-A06R-01 0 -ACP3 55 TCGA-A8-A06R-01 0 -ACAP3 116983 TCGA-A8-A06T-01 -1 -AGRN 375790 TCGA-A8-A06T-01 -1 -ATAD3A 55210 TCGA-A8-A06T-01 -1 -ATAD3B 83858 TCGA-A8-A06T-01 -1 -ATAD3C 219293 TCGA-A8-A06T-01 -1 -AURKAIP1 54998 TCGA-A8-A06T-01 -1 -ERCC5 2073 TCGA-A8-A06T-01 -1 -ACP3 55 TCGA-A8-A06T-01 0 -ACAP3 116983 TCGA-A8-A06U-01 -1 -AGRN 375790 TCGA-A8-A06U-01 -1 -ATAD3A 55210 TCGA-A8-A06U-01 -1 -ATAD3B 83858 TCGA-A8-A06U-01 -1 -ATAD3C 219293 TCGA-A8-A06U-01 -1 -AURKAIP1 54998 TCGA-A8-A06U-01 -1 -ERCC5 2073 TCGA-A8-A06U-01 -1 -ACP3 55 TCGA-A8-A06U-01 0 -ACAP3 116983 TCGA-A8-A06X-01 0 -AGRN 375790 TCGA-A8-A06X-01 0 -ATAD3A 55210 TCGA-A8-A06X-01 0 -ATAD3B 83858 TCGA-A8-A06X-01 0 -ATAD3C 219293 TCGA-A8-A06X-01 0 -AURKAIP1 54998 TCGA-A8-A06X-01 0 -ERCC5 2073 TCGA-A8-A06X-01 0 -ACP3 55 TCGA-A8-A06X-01 0 -ACAP3 116983 TCGA-A8-A06Y-01 -1 -AGRN 375790 TCGA-A8-A06Y-01 -1 -ATAD3A 55210 TCGA-A8-A06Y-01 -1 -ATAD3B 83858 TCGA-A8-A06Y-01 -1 -ATAD3C 219293 TCGA-A8-A06Y-01 -1 -AURKAIP1 54998 TCGA-A8-A06Y-01 -1 -ERCC5 2073 TCGA-A8-A06Y-01 -1 -ACP3 55 TCGA-A8-A06Y-01 0 -ACAP3 116983 TCGA-A8-A06Z-01 1 -AGRN 375790 TCGA-A8-A06Z-01 1 -ATAD3A 55210 TCGA-A8-A06Z-01 1 -ATAD3B 83858 TCGA-A8-A06Z-01 1 -ATAD3C 219293 TCGA-A8-A06Z-01 1 -AURKAIP1 54998 TCGA-A8-A06Z-01 1 -ERCC5 2073 TCGA-A8-A06Z-01 1 -ACP3 55 TCGA-A8-A06Z-01 0 -ACAP3 116983 TCGA-A8-A075-01 -1 -AGRN 375790 TCGA-A8-A075-01 -1 -ATAD3A 55210 TCGA-A8-A075-01 -1 -ATAD3B 83858 TCGA-A8-A075-01 -1 -ATAD3C 219293 TCGA-A8-A075-01 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0 -AGRN 375790 TEST_SAMPLE_14 0 -ATAD3A 55210 TEST_SAMPLE_14 0 -ATAD3B 83858 TEST_SAMPLE_14 0 -ATAD3C 219293 TEST_SAMPLE_14 0 -AURKAIP1 54998 TEST_SAMPLE_14 0 -ERCC5 2073 TEST_SAMPLE_14 0 -ACP3 55 TEST_SAMPLE_14 0 -ACAP3 116983 TEST_SAMPLE_15 0 -AGRN 375790 TEST_SAMPLE_15 0 -ATAD3A 55210 TEST_SAMPLE_15 0 -ATAD3B 83858 TEST_SAMPLE_15 0 -ATAD3C 219293 TEST_SAMPLE_15 0 -AURKAIP1 54998 TEST_SAMPLE_15 0 -ERCC5 2073 TEST_SAMPLE_15 0 -ACP3 55 TEST_SAMPLE_15 0 diff --git a/end-to-end-test/local/test_data/study_es_0/data_cna_hg19.seg b/end-to-end-test/local/test_data/study_es_0/data_cna_hg19.seg deleted file mode 100644 index b94453050c5..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_cna_hg19.seg +++ /dev/null @@ -1,10 +0,0 @@ -ID chrom loc.start loc.end num.mark seg.mean -TCGA-A2-A04P-01 1 3218610 95674710 53225 0.0055 -TCGA-A2-A04P-01 1 95676511 95676518 2 -1.6636 -TCGA-A2-A04P-01 1 95680124 167057183 24886 0.0053 -TCGA-A2-A04P-01 1 167057495 167059336 3 -1.0999 -TCGA-A2-A04P-01 1 167059760 181602002 9213 -8e-04 -TCGA-A2-A04P-01 1 181603120 181609567 6 -1.2009 -TCGA-A2-A04P-01 1 181610685 201473647 12002 0.0055 -TCGA-A2-A04P-01 1 201474400 201474544 2 -1.4235 -TCGA-A2-A04P-01 1 201475220 247813706 29781 -4e-04 diff --git a/end-to-end-test/local/test_data/study_es_0/data_cna_log2.txt b/end-to-end-test/local/test_data/study_es_0/data_cna_log2.txt deleted file mode 100644 index f58108baa0d..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_cna_log2.txt +++ /dev/null @@ -1,8 +0,0 @@ -Hugo_Symbol Entrez_Gene_Id TCGA-A1-A0SB-01 TCGA-A1-A0SD-01 TCGA-A1-A0SE-01 TCGA-A1-A0SF-01 TCGA-A1-A0SG-01 TCGA-A1-A0SH-01 TCGA-A1-A0SI-01 TCGA-A1-A0SJ-01 TCGA-A1-A0SK-01 TCGA-A1-A0SM-01 TCGA-A1-A0SN-01 TCGA-A1-A0SO-01 TCGA-A1-A0SP-01 TCGA-A1-A0SQ-01 TCGA-A2-A04N-01 TCGA-A2-A04P-01 TCGA-A2-A04Q-01 TCGA-A2-A04R-01 TCGA-A2-A04T-01 TCGA-A2-A04U-01 TCGA-A2-A04V-01 TCGA-A2-A04W-01 TCGA-A2-A04X-01 TCGA-A2-A04Y-01 TCGA-A2-A0CL-01 TCGA-A2-A0CM-01 TCGA-A2-A0CP-01 TCGA-A2-A0CQ-01 TCGA-A2-A0CS-01 TCGA-A2-A0CT-01 TCGA-A2-A0CU-01 TCGA-A2-A0CV-01 TCGA-A2-A0CW-01 TCGA-A2-A0CX-01 TCGA-A2-A0D0-01 TCGA-A2-A0D1-01 TCGA-A2-A0D2-01 TCGA-A2-A0D3-01 TCGA-A2-A0D4-01 TCGA-A2-A0EM-01 TCGA-A2-A0EN-01 TCGA-A2-A0EO-01 TCGA-A2-A0EQ-01 TCGA-A2-A0ER-01 TCGA-A2-A0ES-01 TCGA-A2-A0ET-01 TCGA-A2-A0EU-01 TCGA-A2-A0EV-01 TCGA-A2-A0EW-01 TCGA-A2-A0EX-01 TCGA-A2-A0EY-01 TCGA-A2-A0ST-01 TCGA-A2-A0SU-01 TCGA-A2-A0SV-01 TCGA-A2-A0SW-01 TCGA-A2-A0SX-01 TCGA-A2-A0SY-01 TCGA-A2-A0T0-01 TCGA-A2-A0T1-01 TCGA-A2-A0T2-01 TCGA-A2-A0T3-01 TCGA-A2-A0T4-01 TCGA-A2-A0T5-01 TCGA-A2-A0T6-01 TCGA-A2-A0T7-01 TCGA-A2-A0YC-01 TCGA-A2-A0YD-01 TCGA-A2-A0YE-01 TCGA-A2-A0YF-01 TCGA-A2-A0YG-01 TCGA-A2-A0YH-01 TCGA-A2-A0YI-01 TCGA-A2-A0YJ-01 TCGA-A2-A0YK-01 TCGA-A2-A0YL-01 TCGA-A2-A0YM-01 TCGA-A2-A0YT-01 TCGA-A2-A1FV-01 TCGA-A2-A1FW-01 TCGA-A2-A1FX-01 TCGA-A2-A1FZ-01 TCGA-A2-A1G0-01 TCGA-A2-A1G1-01 TCGA-A2-A1G4-01 TCGA-A2-A1G6-01 TCGA-A2-A259-01 TCGA-A2-A25A-01 TCGA-A2-A25B-01 TCGA-A2-A25C-01 TCGA-A2-A25D-01 TCGA-A2-A25E-01 TCGA-A2-A25F-01 TCGA-A7-A0CD-01 TCGA-A7-A0CE-01 TCGA-A7-A0CG-01 TCGA-A7-A0CH-01 TCGA-A7-A0CJ-01 TCGA-A7-A0D9-01 TCGA-A7-A0DA-01 TCGA-A7-A0DB-01 TCGA-A7-A13D-01 TCGA-A7-A13E-01 TCGA-A7-A13F-01 TCGA-A7-A13G-01 TCGA-A7-A26E-01 TCGA-A7-A26F-01 TCGA-A7-A26G-01 TCGA-A7-A26H-01 TCGA-A7-A26I-01 TCGA-A7-A26J-01 TCGA-A8-A06N-01 TCGA-A8-A06O-01 TCGA-A8-A06P-01 TCGA-A8-A06Q-01 TCGA-A8-A06R-01 TCGA-A8-A06T-01 TCGA-A8-A06U-01 TCGA-A8-A06X-01 TCGA-A8-A06Y-01 TCGA-A8-A06Z-01 TCGA-A8-A075-01 TCGA-A8-A076-01 TCGA-A8-A079-01 TCGA-A8-A07B-01 TCGA-A8-A07E-01 TCGA-A8-A07F-01 TCGA-A8-A07G-01 TCGA-A8-A07I-01 TCGA-A8-A07J-01 TCGA-A8-A07L-01 TCGA-A8-A07O-01 TCGA-A8-A07P-01 TCGA-A8-A07R-01 TCGA-A8-A07S-01 TCGA-A8-A07U-01 TCGA-A8-A07W-01 TCGA-A8-A07Z-01 TCGA-A8-A081-01 TCGA-A8-A082-01 TCGA-A8-A083-01 TCGA-A8-A084-01 TCGA-A8-A085-01 TCGA-A8-A086-01 TCGA-A8-A08A-01 TCGA-A8-A08B-01 TCGA-A8-A08C-01 TCGA-A8-A08F-01 TCGA-A8-A08G-01 TCGA-A8-A08H-01 TCGA-A8-A08I-01 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TCGA-BH-A0W3-01 TCGA-BH-A0W4-01 TCGA-BH-A0W5-01 TCGA-BH-A0W7-01 TCGA-BH-A0WA-01 TCGA-BH-A18F-01 TCGA-BH-A18G-01 TCGA-BH-A18H-01 TCGA-BH-A18I-01 TCGA-BH-A18J-01 TCGA-BH-A18K-01 TCGA-BH-A18L-01 TCGA-BH-A18M-01 TCGA-BH-A18N-01 TCGA-BH-A18P-01 TCGA-BH-A18Q-01 TCGA-BH-A18R-01 TCGA-BH-A18S-01 TCGA-BH-A18T-01 TCGA-BH-A18U-01 TCGA-BH-A18V-01 TCGA-BH-A1EN-01 TCGA-BH-A1EO-01 TCGA-BH-A1ES-01 TCGA-BH-A1ET-01 TCGA-BH-A1EU-01 TCGA-BH-A1EV-01 TCGA-BH-A1EW-01 TCGA-BH-A1EX-01 TCGA-BH-A1EY-01 TCGA-BH-A1F0-01 TCGA-BH-A1F2-01 TCGA-BH-A1F5-01 TCGA-BH-A1F6-01 TCGA-BH-A1F8-01 TCGA-BH-A1FB-01 TCGA-BH-A1FC-01 TCGA-BH-A1FD-01 TCGA-BH-A1FE-01 TCGA-BH-A1FG-01 TCGA-BH-A1FH-01 TCGA-BH-A1FJ-01 TCGA-BH-A1FL-01 TCGA-BH-A1FM-01 TCGA-BH-A1FN-01 TCGA-BH-A1FR-01 TCGA-BH-A1FU-01 TCGA-BH-A201-01 TCGA-BH-A202-01 TCGA-BH-A203-01 TCGA-BH-A204-01 TCGA-BH-A208-01 TCGA-BH-A209-01 TCGA-BH-A28Q-01 TCGA-C8-A12K-01 TCGA-C8-A12L-01 TCGA-C8-A12M-01 TCGA-C8-A12N-01 TCGA-C8-A12P-01 TCGA-C8-A12Q-01 TCGA-C8-A12T-01 TCGA-C8-A12U-01 TCGA-C8-A12V-01 TCGA-C8-A12W-01 TCGA-C8-A12X-01 TCGA-C8-A12Y-01 TCGA-C8-A12Z-01 TCGA-C8-A130-01 TCGA-C8-A131-01 TCGA-C8-A132-01 TCGA-C8-A133-01 TCGA-C8-A134-01 TCGA-C8-A135-01 TCGA-C8-A137-01 TCGA-C8-A138-01 TCGA-C8-A1HE-01 TCGA-C8-A1HF-01 TCGA-C8-A1HG-01 TCGA-C8-A1HI-01 TCGA-C8-A1HJ-01 TCGA-C8-A1HK-01 TCGA-C8-A1HL-01 TCGA-C8-A1HM-01 TCGA-C8-A1HN-01 TCGA-C8-A1HO-01 TCGA-C8-A26V-01 TCGA-C8-A26W-01 TCGA-C8-A26X-01 TCGA-C8-A26Y-01 TCGA-C8-A26Z-01 TCGA-C8-A273-01 TCGA-C8-A274-01 TCGA-C8-A275-01 TCGA-C8-A278-01 TCGA-C8-A27A-01 TCGA-C8-A27B-01 TCGA-D8-A13Y-01 TCGA-D8-A13Z-01 TCGA-D8-A141-01 TCGA-D8-A142-01 TCGA-D8-A143-01 TCGA-D8-A145-01 TCGA-D8-A146-01 TCGA-D8-A147-01 TCGA-D8-A1J8-01 TCGA-D8-A1J9-01 TCGA-D8-A1JA-01 TCGA-D8-A1JB-01 TCGA-D8-A1JC-01 TCGA-D8-A1JD-01 TCGA-D8-A1JE-01 TCGA-D8-A1JF-01 TCGA-D8-A1JG-01 TCGA-D8-A1JH-01 TCGA-D8-A1JI-01 TCGA-D8-A1JJ-01 TCGA-D8-A1JK-01 TCGA-D8-A1JL-01 TCGA-D8-A1JM-01 TCGA-D8-A1JN-01 TCGA-D8-A1JP-01 TCGA-D8-A1JS-01 TCGA-D8-A1JT-01 TCGA-D8-A1JU-01 TCGA-D8-A1X5-01 TCGA-D8-A1X6-01 TCGA-D8-A1X7-01 TCGA-D8-A1X8-01 TCGA-D8-A1X9-01 TCGA-D8-A1XA-01 TCGA-D8-A1XB-01 TCGA-D8-A1XC-01 TCGA-D8-A1XD-01 TCGA-D8-A1XF-01 TCGA-D8-A1XG-01 TCGA-D8-A1XJ-01 TCGA-D8-A1XK-01 TCGA-D8-A1XL-01 TCGA-D8-A1XM-01 TCGA-D8-A1XO-01 TCGA-D8-A1XQ-01 TCGA-D8-A1XR-01 TCGA-D8-A1XS-01 TCGA-D8-A1XT-01 TCGA-D8-A1XU-01 TCGA-D8-A1XV-01 TCGA-D8-A1XW-01 TCGA-D8-A1XY-01 TCGA-D8-A1XZ-01 TCGA-D8-A1Y0-01 TCGA-D8-A1Y1-01 TCGA-D8-A1Y2-01 TCGA-D8-A1Y3-01 TCGA-D8-A27E-01 TCGA-D8-A27F-01 TCGA-D8-A27G-01 TCGA-D8-A27H-01 TCGA-D8-A27I-01 TCGA-D8-A27K-01 TCGA-D8-A27L-01 TCGA-D8-A27M-01 TCGA-D8-A27N-01 TCGA-D8-A27P-01 TCGA-D8-A27R-01 TCGA-D8-A27T-01 TCGA-D8-A27V-01 TCGA-D8-A27W-01 TCGA-E2-A105-01 TCGA-E2-A107-01 TCGA-E2-A108-01 TCGA-E2-A109-01 TCGA-E2-A10A-01 TCGA-E2-A10B-01 TCGA-E2-A10C-01 TCGA-E2-A10E-01 TCGA-E2-A10F-01 TCGA-E2-A14N-01 TCGA-E2-A14O-01 TCGA-E2-A14P-01 TCGA-E2-A14Q-01 TCGA-E2-A14R-01 TCGA-E2-A14S-01 TCGA-E2-A14V-01 TCGA-E2-A14W-01 TCGA-E2-A14X-01 TCGA-E2-A14Y-01 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TCGA-E9-A1NI-01 TCGA-E9-A1QZ-01 TCGA-E9-A1R0-01 TCGA-E9-A1R2-01 TCGA-E9-A1R3-01 TCGA-E9-A1R4-01 TCGA-E9-A1R5-01 TCGA-E9-A1R6-01 TCGA-E9-A1R7-01 TCGA-E9-A1RA-01 TCGA-E9-A1RB-01 TCGA-E9-A1RC-01 TCGA-E9-A1RD-01 TCGA-E9-A1RE-01 TCGA-E9-A1RF-01 TCGA-E9-A1RG-01 TCGA-E9-A1RH-01 TCGA-E9-A1RI-01 TCGA-E9-A226-01 TCGA-E9-A227-01 TCGA-E9-A228-01 TCGA-E9-A229-01 TCGA-E9-A22A-01 TCGA-E9-A22B-01 TCGA-E9-A22D-01 TCGA-E9-A22E-01 TCGA-E9-A22G-01 TCGA-E9-A22H-01 TCGA-E9-A243-01 TCGA-E9-A244-01 TCGA-E9-A245-01 TCGA-E9-A247-01 TCGA-E9-A248-01 TCGA-E9-A249-01 TCGA-E9-A24A-01 TCGA-E9-A295-01 TCGA-EW-A1IW-01 TCGA-EW-A1IX-01 TCGA-EW-A1IY-01 TCGA-EW-A1IZ-01 TCGA-EW-A1J1-01 TCGA-EW-A1J2-01 TCGA-EW-A1J3-01 TCGA-EW-A1J5-01 TCGA-EW-A1J6-01 TCGA-EW-A1OV-01 TCGA-EW-A1OW-01 TCGA-EW-A1OX-01 TCGA-EW-A1OY-01 TCGA-EW-A1OZ-01 TCGA-EW-A1P0-01 TCGA-EW-A1P1-01 TCGA-EW-A1P3-01 TCGA-EW-A1P4-01 TCGA-EW-A1P5-01 TCGA-EW-A1P6-01 TCGA-EW-A1P7-01 TCGA-EW-A1P8-01 TCGA-EW-A1PA-01 TCGA-EW-A1PB-01 TCGA-EW-A1PD-01 TCGA-EW-A1PE-01 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a/end-to-end-test/local/test_data/study_es_0/data_expression_median.txt +++ /dev/null @@ -1,7 +0,0 @@ -Hugo_Symbol Entrez_Gene_Id TCGA-A1-A0SD-01 TCGA-A1-A0SE-01 TCGA-A1-A0SH-01 TCGA-A1-A0SJ-01 TCGA-A1-A0SK-01 TCGA-A1-A0SM-01 TCGA-A1-A0SO-01 TCGA-A1-A0SP-01 TCGA-A2-A04N-01 TCGA-A2-A04P-01 TCGA-A2-A04Q-01 TCGA-A2-A04R-01 TCGA-A2-A04T-01 TCGA-A2-A04U-01 TCGA-A2-A04V-01 TCGA-A2-A04W-01 TCGA-A2-A04X-01 TCGA-A2-A04Y-01 TCGA-A2-A0CL-01 TCGA-A2-A0CM-01 TCGA-A2-A0CP-01 TCGA-A2-A0CQ-01 TCGA-A2-A0CS-01 TCGA-A2-A0CT-01 TCGA-A2-A0CU-01 TCGA-A2-A0CV-01 TCGA-A2-A0CW-01 TCGA-A2-A0CX-01 TCGA-A2-A0CY-01 TCGA-A2-A0CZ-01 TCGA-A2-A0D0-01 TCGA-A2-A0D1-01 TCGA-A2-A0D2-01 TCGA-A2-A0D3-01 TCGA-A2-A0D4-01 TCGA-A2-A0EM-01 TCGA-A2-A0EN-01 TCGA-A2-A0EO-01 TCGA-A2-A0EQ-01 TCGA-A2-A0ER-01 TCGA-A2-A0ES-01 TCGA-A2-A0ET-01 TCGA-A2-A0EU-01 TCGA-A2-A0EV-01 TCGA-A2-A0EW-01 TCGA-A2-A0EX-01 TCGA-A2-A0EY-01 TCGA-A2-A0ST-01 TCGA-A2-A0SU-01 TCGA-A2-A0SV-01 TCGA-A2-A0SW-01 TCGA-A2-A0SX-01 TCGA-A2-A0SY-01 TCGA-A2-A0T0-01 TCGA-A2-A0T1-01 TCGA-A2-A0T2-01 TCGA-A2-A0T3-01 TCGA-A2-A0T4-01 TCGA-A2-A0T5-01 TCGA-A2-A0T6-01 TCGA-A2-A0T7-01 TCGA-A2-A0YC-01 TCGA-A2-A0YD-01 TCGA-A2-A0YE-01 TCGA-A2-A0YF-01 TCGA-A2-A0YG-01 TCGA-A2-A0YH-01 TCGA-A2-A0YI-01 TCGA-A2-A0YJ-01 TCGA-A2-A0YK-01 TCGA-A2-A0YL-01 TCGA-A2-A0YM-01 TCGA-A2-A0YT-01 TCGA-A7-A0CD-01 TCGA-A7-A0CE-01 TCGA-A7-A0CG-01 TCGA-A7-A0CH-01 TCGA-A7-A0CJ-01 TCGA-A7-A0D9-01 TCGA-A7-A0DA-01 TCGA-A7-A0DB-01 TCGA-A7-A13D-01 TCGA-A7-A13E-01 TCGA-A7-A13F-01 TCGA-A8-A06N-01 TCGA-A8-A06O-01 TCGA-A8-A06P-01 TCGA-A8-A06Q-01 TCGA-A8-A06R-01 TCGA-A8-A06T-01 TCGA-A8-A06U-01 TCGA-A8-A06X-01 TCGA-A8-A06Y-01 TCGA-A8-A06Z-01 TCGA-A8-A075-01 TCGA-A8-A076-01 TCGA-A8-A079-01 TCGA-A8-A07B-01 TCGA-A8-A07C-01 TCGA-A8-A07E-01 TCGA-A8-A07F-01 TCGA-A8-A07G-01 TCGA-A8-A07I-01 TCGA-A8-A07J-01 TCGA-A8-A07L-01 TCGA-A8-A07O-01 TCGA-A8-A07P-01 TCGA-A8-A07R-01 TCGA-A8-A07S-01 TCGA-A8-A07U-01 TCGA-A8-A07W-01 TCGA-A8-A07Z-01 TCGA-A8-A081-01 TCGA-A8-A082-01 TCGA-A8-A083-01 TCGA-A8-A084-01 TCGA-A8-A085-01 TCGA-A8-A086-01 TCGA-A8-A08A-01 TCGA-A8-A08B-01 TCGA-A8-A08C-01 TCGA-A8-A08F-01 TCGA-A8-A08G-01 TCGA-A8-A08H-01 TCGA-A8-A08I-01 TCGA-A8-A08J-01 TCGA-A8-A08L-01 TCGA-A8-A08O-01 TCGA-A8-A08P-01 TCGA-A8-A08R-01 TCGA-A8-A08S-01 TCGA-A8-A08T-01 TCGA-A8-A08X-01 TCGA-A8-A08Z-01 TCGA-A8-A090-01 TCGA-A8-A091-01 TCGA-A8-A092-01 TCGA-A8-A093-01 TCGA-A8-A094-01 TCGA-A8-A095-01 TCGA-A8-A096-01 TCGA-A8-A097-01 TCGA-A8-A099-01 TCGA-A8-A09A-01 TCGA-A8-A09B-01 TCGA-A8-A09C-01 TCGA-A8-A09D-01 TCGA-A8-A09E-01 TCGA-A8-A09G-01 TCGA-A8-A09I-01 TCGA-A8-A09K-01 TCGA-A8-A09M-01 TCGA-A8-A09N-01 TCGA-A8-A09Q-01 TCGA-A8-A09R-01 TCGA-A8-A09T-01 TCGA-A8-A09V-01 TCGA-A8-A09W-01 TCGA-A8-A09X-01 TCGA-A8-A09Z-01 TCGA-A8-A0A1-01 TCGA-A8-A0A2-01 TCGA-A8-A0A4-01 TCGA-A8-A0A6-01 TCGA-A8-A0A7-01 TCGA-A8-A0A9-01 TCGA-A8-A0AB-01 TCGA-A8-A0AD-01 TCGA-AN-A03X-01 TCGA-AN-A03Y-01 TCGA-AN-A041-01 TCGA-AN-A046-01 TCGA-AN-A049-01 TCGA-AN-A04A-01 TCGA-AN-A04C-01 TCGA-AN-A04D-01 TCGA-AN-A0AJ-01 TCGA-AN-A0AK-01 TCGA-AN-A0AL-01 TCGA-AN-A0AM-01 TCGA-AN-A0AR-01 TCGA-AN-A0AS-01 TCGA-AN-A0AT-01 TCGA-AN-A0FD-01 TCGA-AN-A0FF-01 TCGA-AN-A0FJ-01 TCGA-AN-A0FK-01 TCGA-AN-A0FL-01 TCGA-AN-A0FN-01 TCGA-AN-A0FS-01 TCGA-AN-A0FT-01 TCGA-AN-A0FV-01 TCGA-AN-A0FW-01 TCGA-AN-A0FX-01 TCGA-AN-A0FY-01 TCGA-AN-A0FZ-01 TCGA-AN-A0G0-01 TCGA-AN-A0XL-01 TCGA-AN-A0XN-01 TCGA-AN-A0XO-01 TCGA-AN-A0XP-01 TCGA-AN-A0XR-01 TCGA-AN-A0XS-01 TCGA-AN-A0XT-01 TCGA-AN-A0XU-01 TCGA-AN-A0XV-01 TCGA-AN-A0XW-01 TCGA-AO-A03L-01 TCGA-AO-A03M-01 TCGA-AO-A03N-01 TCGA-AO-A03O-01 TCGA-AO-A03P-01 TCGA-AO-A03R-01 TCGA-AO-A03T-01 TCGA-AO-A03U-01 TCGA-AO-A03V-01 TCGA-AO-A0J2-01 TCGA-AO-A0J3-01 TCGA-AO-A0J4-01 TCGA-AO-A0J5-01 TCGA-AO-A0J6-01 TCGA-AO-A0J7-01 TCGA-AO-A0J8-01 TCGA-AO-A0J9-01 TCGA-AO-A0JA-01 TCGA-AO-A0JB-01 TCGA-AO-A0JC-01 TCGA-AO-A0JD-01 TCGA-AO-A0JE-01 TCGA-AO-A0JF-01 TCGA-AO-A0JG-01 TCGA-AO-A0JI-01 TCGA-AO-A0JJ-01 TCGA-AO-A0JL-01 TCGA-AO-A0JM-01 TCGA-AO-A124-01 TCGA-AO-A125-01 TCGA-AO-A126-01 TCGA-AO-A128-01 TCGA-AO-A129-01 TCGA-AO-A12A-01 TCGA-AO-A12B-01 TCGA-AO-A12C-01 TCGA-AO-A12D-01 TCGA-AO-A12E-01 TCGA-AO-A12F-01 TCGA-AO-A12G-01 TCGA-AO-A12H-01 TCGA-AQ-A04H-01 TCGA-AQ-A04J-01 TCGA-AQ-A04L-01 TCGA-AR-A0TP-01 TCGA-AR-A0TQ-01 TCGA-AR-A0TR-01 TCGA-AR-A0TS-01 TCGA-AR-A0TT-01 TCGA-AR-A0TU-01 TCGA-AR-A0TV-01 TCGA-AR-A0TW-01 TCGA-AR-A0TX-01 TCGA-AR-A0TY-01 TCGA-AR-A0TZ-01 TCGA-AR-A0U0-01 TCGA-AR-A0U1-01 TCGA-AR-A0U2-01 TCGA-AR-A0U3-01 TCGA-AR-A0U4-01 TCGA-AR-A1AH-01 TCGA-AR-A1AI-01 TCGA-AR-A1AJ-01 TCGA-AR-A1AK-01 TCGA-AR-A1AL-01 TCGA-AR-A1AN-01 TCGA-AR-A1AO-01 TCGA-AR-A1AP-01 TCGA-AR-A1AQ-01 TCGA-AR-A1AR-01 TCGA-AR-A1AS-01 TCGA-AR-A1AT-01 TCGA-AR-A1AU-01 TCGA-AR-A1AV-01 TCGA-AR-A1AW-01 TCGA-AR-A1AX-01 TCGA-AR-A1AY-01 TCGA-B6-A0I2-01 TCGA-B6-A0I5-01 TCGA-B6-A0I6-01 TCGA-B6-A0I8-01 TCGA-B6-A0I9-01 TCGA-B6-A0IA-01 TCGA-B6-A0IB-01 TCGA-B6-A0IC-01 TCGA-B6-A0IE-01 TCGA-B6-A0IG-01 TCGA-B6-A0IH-01 TCGA-B6-A0IJ-01 TCGA-B6-A0IK-01 TCGA-B6-A0IM-01 TCGA-B6-A0IN-01 TCGA-B6-A0IO-01 TCGA-B6-A0IP-01 TCGA-B6-A0IQ-01 TCGA-B6-A0RE-01 TCGA-B6-A0RG-01 TCGA-B6-A0RH-01 TCGA-B6-A0RI-01 TCGA-B6-A0RL-01 TCGA-B6-A0RM-01 TCGA-B6-A0RN-01 TCGA-B6-A0RO-01 TCGA-B6-A0RP-01 TCGA-B6-A0RQ-01 TCGA-B6-A0RS-01 TCGA-B6-A0RT-01 TCGA-B6-A0RU-01 TCGA-B6-A0RV-01 TCGA-B6-A0WS-01 TCGA-B6-A0WT-01 TCGA-B6-A0WV-01 TCGA-B6-A0WW-01 TCGA-B6-A0WX-01 TCGA-B6-A0WY-01 TCGA-B6-A0WZ-01 TCGA-B6-A0X0-01 TCGA-B6-A0X1-01 TCGA-B6-A0X4-01 TCGA-B6-A0X5-01 TCGA-B6-A0X7-01 TCGA-BH-A0AU-01 TCGA-BH-A0AV-01 TCGA-BH-A0AW-01 TCGA-BH-A0AY-01 TCGA-BH-A0AZ-01 TCGA-BH-A0B0-01 TCGA-BH-A0B1-01 TCGA-BH-A0B3-01 TCGA-BH-A0B4-01 TCGA-BH-A0B5-01 TCGA-BH-A0B7-01 TCGA-BH-A0B8-01 TCGA-BH-A0B9-01 TCGA-BH-A0BA-01 TCGA-BH-A0BC-01 TCGA-BH-A0BD-01 TCGA-BH-A0BF-01 TCGA-BH-A0BG-01 TCGA-BH-A0BJ-01 TCGA-BH-A0BL-01 TCGA-BH-A0BM-01 TCGA-BH-A0BO-01 TCGA-BH-A0BP-01 TCGA-BH-A0BQ-01 TCGA-BH-A0BR-01 TCGA-BH-A0BS-01 TCGA-BH-A0BT-01 TCGA-BH-A0BV-01 TCGA-BH-A0BW-01 TCGA-BH-A0BZ-01 TCGA-BH-A0C0-01 TCGA-BH-A0C1-01 TCGA-BH-A0C3-01 TCGA-BH-A0C7-01 TCGA-BH-A0DD-01 TCGA-BH-A0DE-01 TCGA-BH-A0DG-01 TCGA-BH-A0DH-01 TCGA-BH-A0DI-01 TCGA-BH-A0DK-01 TCGA-BH-A0DL-01 TCGA-BH-A0DO-01 TCGA-BH-A0DP-01 TCGA-BH-A0DQ-01 TCGA-BH-A0DS-01 TCGA-BH-A0DT-01 TCGA-BH-A0DX-01 TCGA-BH-A0DZ-01 TCGA-BH-A0E0-01 TCGA-BH-A0E1-01 TCGA-BH-A0E2-01 TCGA-BH-A0E6-01 TCGA-BH-A0E7-01 TCGA-BH-A0E9-01 TCGA-BH-A0EA-01 TCGA-BH-A0EB-01 TCGA-BH-A0EE-01 TCGA-BH-A0EI-01 TCGA-BH-A0GY-01 TCGA-BH-A0GZ-01 TCGA-BH-A0H0-01 TCGA-BH-A0H3-01 TCGA-BH-A0H5-01 TCGA-BH-A0H6-01 TCGA-BH-A0H7-01 TCGA-BH-A0H9-01 TCGA-BH-A0HA-01 TCGA-BH-A0HB-01 TCGA-BH-A0HF-01 TCGA-BH-A0HI-01 TCGA-BH-A0HK-01 TCGA-BH-A0HL-01 TCGA-BH-A0HN-01 TCGA-BH-A0HO-01 TCGA-BH-A0HP-01 TCGA-BH-A0HQ-01 TCGA-BH-A0HU-01 TCGA-BH-A0HW-01 TCGA-BH-A0HX-01 TCGA-BH-A0HY-01 TCGA-BH-A0RX-01 TCGA-BH-A0W3-01 TCGA-BH-A0W4-01 TCGA-BH-A0W5-01 TCGA-BH-A0W7-01 TCGA-BH-A0WA-01 TCGA-BH-A18F-01 TCGA-BH-A18G-01 TCGA-BH-A18H-01 TCGA-BH-A18I-01 TCGA-BH-A18J-01 TCGA-BH-A18K-01 TCGA-BH-A18L-01 TCGA-BH-A18M-01 TCGA-BH-A18N-01 TCGA-BH-A18P-01 TCGA-BH-A18Q-01 TCGA-BH-A18R-01 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TCGA-A2-A04N-01 TCGA-A2-A04P-01 TCGA-A2-A04Q-01 TCGA-A2-A04R-01 TCGA-A2-A04T-01 TCGA-A2-A04U-01 TCGA-A2-A04V-01 TCGA-A2-A04W-01 TCGA-A2-A04X-01 TCGA-A2-A04Y-01 TCGA-A2-A0CL-01 TCGA-A2-A0CM-01 TCGA-A2-A0CP-01 TCGA-A2-A0CQ-01 TCGA-A2-A0CS-01 TCGA-A2-A0CT-01 TCGA-A2-A0CU-01 TCGA-A2-A0CV-01 TCGA-A2-A0CW-01 TCGA-A2-A0CX-01 TCGA-A2-A0CY-01 TCGA-A2-A0CZ-01 TCGA-A2-A0D0-01 TCGA-A2-A0D1-01 TCGA-A2-A0D2-01 TCGA-A2-A0D3-01 TCGA-A2-A0D4-01 TCGA-A2-A0EM-01 TCGA-A2-A0EN-01 TCGA-A2-A0EO-01 TCGA-A2-A0EQ-01 TCGA-A2-A0ER-01 TCGA-A2-A0ES-01 TCGA-A2-A0ET-01 TCGA-A2-A0EU-01 TCGA-A2-A0EV-01 TCGA-A2-A0EW-01 TCGA-A2-A0EX-01 TCGA-A2-A0EY-01 TCGA-A2-A0ST-01 TCGA-A2-A0SU-01 TCGA-A2-A0SV-01 TCGA-A2-A0SW-01 TCGA-A2-A0SX-01 TCGA-A2-A0SY-01 TCGA-A2-A0T0-01 TCGA-A2-A0T1-01 TCGA-A2-A0T2-01 TCGA-A2-A0T3-01 TCGA-A2-A0T4-01 TCGA-A2-A0T5-01 TCGA-A2-A0T6-01 TCGA-A2-A0T7-01 TCGA-A2-A0YC-01 TCGA-A2-A0YD-01 TCGA-A2-A0YE-01 TCGA-A2-A0YF-01 TCGA-A2-A0YG-01 TCGA-A2-A0YH-01 TCGA-A2-A0YI-01 TCGA-A2-A0YJ-01 TCGA-A2-A0YK-01 TCGA-A2-A0YL-01 TCGA-A2-A0YM-01 TCGA-A2-A0YT-01 TCGA-A7-A0CD-01 TCGA-A7-A0CE-01 TCGA-A7-A0CG-01 TCGA-A7-A0CH-01 TCGA-A7-A0CJ-01 TCGA-A7-A0D9-01 TCGA-A7-A0DA-01 TCGA-A7-A0DB-01 TCGA-A7-A13D-01 TCGA-A7-A13E-01 TCGA-A7-A13F-01 TCGA-A8-A06N-01 TCGA-A8-A06O-01 TCGA-A8-A06P-01 TCGA-A8-A06Q-01 TCGA-A8-A06R-01 TCGA-A8-A06T-01 TCGA-A8-A06U-01 TCGA-A8-A06X-01 TCGA-A8-A06Y-01 TCGA-A8-A06Z-01 TCGA-A8-A075-01 TCGA-A8-A076-01 TCGA-A8-A079-01 TCGA-A8-A07B-01 TCGA-A8-A07C-01 TCGA-A8-A07E-01 TCGA-A8-A07F-01 TCGA-A8-A07G-01 TCGA-A8-A07I-01 TCGA-A8-A07J-01 TCGA-A8-A07L-01 TCGA-A8-A07O-01 TCGA-A8-A07P-01 TCGA-A8-A07R-01 TCGA-A8-A07S-01 TCGA-A8-A07U-01 TCGA-A8-A07W-01 TCGA-A8-A07Z-01 TCGA-A8-A081-01 TCGA-A8-A082-01 TCGA-A8-A083-01 TCGA-A8-A084-01 TCGA-A8-A085-01 TCGA-A8-A086-01 TCGA-A8-A08A-01 TCGA-A8-A08B-01 TCGA-A8-A08C-01 TCGA-A8-A08F-01 TCGA-A8-A08G-01 TCGA-A8-A08H-01 TCGA-A8-A08I-01 TCGA-A8-A08J-01 TCGA-A8-A08L-01 TCGA-A8-A08O-01 TCGA-A8-A08P-01 TCGA-A8-A08R-01 TCGA-A8-A08S-01 TCGA-A8-A08T-01 TCGA-A8-A08X-01 TCGA-A8-A08Z-01 TCGA-A8-A090-01 TCGA-A8-A091-01 TCGA-A8-A092-01 TCGA-A8-A093-01 TCGA-A8-A094-01 TCGA-A8-A095-01 TCGA-A8-A096-01 TCGA-A8-A097-01 TCGA-A8-A099-01 TCGA-A8-A09A-01 TCGA-A8-A09B-01 TCGA-A8-A09C-01 TCGA-A8-A09D-01 TCGA-A8-A09E-01 TCGA-A8-A09G-01 TCGA-A8-A09I-01 TCGA-A8-A09K-01 TCGA-A8-A09M-01 TCGA-A8-A09N-01 TCGA-A8-A09Q-01 TCGA-A8-A09R-01 TCGA-A8-A09T-01 TCGA-A8-A09V-01 TCGA-A8-A09W-01 TCGA-A8-A09X-01 TCGA-A8-A09Z-01 TCGA-A8-A0A1-01 TCGA-A8-A0A2-01 TCGA-A8-A0A4-01 TCGA-A8-A0A6-01 TCGA-A8-A0A7-01 TCGA-A8-A0A9-01 TCGA-A8-A0AB-01 TCGA-A8-A0AD-01 TCGA-AN-A03X-01 TCGA-AN-A03Y-01 TCGA-AN-A041-01 TCGA-AN-A046-01 TCGA-AN-A049-01 TCGA-AN-A04A-01 TCGA-AN-A04C-01 TCGA-AN-A04D-01 TCGA-AN-A0AJ-01 TCGA-AN-A0AK-01 TCGA-AN-A0AL-01 TCGA-AN-A0AM-01 TCGA-AN-A0AR-01 TCGA-AN-A0AS-01 TCGA-AN-A0AT-01 TCGA-AN-A0FD-01 TCGA-AN-A0FF-01 TCGA-AN-A0FJ-01 TCGA-AN-A0FK-01 TCGA-AN-A0FL-01 TCGA-AN-A0FN-01 TCGA-AN-A0FS-01 TCGA-AN-A0FT-01 TCGA-AN-A0FV-01 TCGA-AN-A0FW-01 TCGA-AN-A0FX-01 TCGA-AN-A0FY-01 TCGA-AN-A0FZ-01 TCGA-AN-A0G0-01 TCGA-AN-A0XL-01 TCGA-AN-A0XN-01 TCGA-AN-A0XO-01 TCGA-AN-A0XP-01 TCGA-AN-A0XR-01 TCGA-AN-A0XS-01 TCGA-AN-A0XT-01 TCGA-AN-A0XU-01 TCGA-AN-A0XV-01 TCGA-AN-A0XW-01 TCGA-AO-A03L-01 TCGA-AO-A03M-01 TCGA-AO-A03N-01 TCGA-AO-A03O-01 TCGA-AO-A03P-01 TCGA-AO-A03R-01 TCGA-AO-A03T-01 TCGA-AO-A03U-01 TCGA-AO-A03V-01 TCGA-AO-A0J2-01 TCGA-AO-A0J3-01 TCGA-AO-A0J4-01 TCGA-AO-A0J5-01 TCGA-AO-A0J6-01 TCGA-AO-A0J7-01 TCGA-AO-A0J8-01 TCGA-AO-A0J9-01 TCGA-AO-A0JA-01 TCGA-AO-A0JB-01 TCGA-AO-A0JC-01 TCGA-AO-A0JD-01 TCGA-AO-A0JE-01 TCGA-AO-A0JF-01 TCGA-AO-A0JG-01 TCGA-AO-A0JI-01 TCGA-AO-A0JJ-01 TCGA-AO-A0JL-01 TCGA-AO-A0JM-01 TCGA-AO-A124-01 TCGA-AO-A125-01 TCGA-AO-A126-01 TCGA-AO-A128-01 TCGA-AO-A129-01 TCGA-AO-A12A-01 TCGA-AO-A12B-01 TCGA-AO-A12C-01 TCGA-AO-A12D-01 TCGA-AO-A12E-01 TCGA-AO-A12F-01 TCGA-AO-A12G-01 TCGA-AO-A12H-01 TCGA-AQ-A04H-01 TCGA-AQ-A04J-01 TCGA-AQ-A04L-01 TCGA-AR-A0TP-01 TCGA-AR-A0TQ-01 TCGA-AR-A0TR-01 TCGA-AR-A0TS-01 TCGA-AR-A0TT-01 TCGA-AR-A0TU-01 TCGA-AR-A0TV-01 TCGA-AR-A0TW-01 TCGA-AR-A0TX-01 TCGA-AR-A0TY-01 TCGA-AR-A0TZ-01 TCGA-AR-A0U0-01 TCGA-AR-A0U1-01 TCGA-AR-A0U2-01 TCGA-AR-A0U3-01 TCGA-AR-A0U4-01 TCGA-AR-A1AH-01 TCGA-AR-A1AI-01 TCGA-AR-A1AJ-01 TCGA-AR-A1AK-01 TCGA-AR-A1AL-01 TCGA-AR-A1AN-01 TCGA-AR-A1AO-01 TCGA-AR-A1AP-01 TCGA-AR-A1AQ-01 TCGA-AR-A1AR-01 TCGA-AR-A1AS-01 TCGA-AR-A1AT-01 TCGA-AR-A1AU-01 TCGA-AR-A1AV-01 TCGA-AR-A1AW-01 TCGA-AR-A1AX-01 TCGA-AR-A1AY-01 TCGA-B6-A0I2-01 TCGA-B6-A0I5-01 TCGA-B6-A0I6-01 TCGA-B6-A0I8-01 TCGA-B6-A0I9-01 TCGA-B6-A0IA-01 TCGA-B6-A0IB-01 TCGA-B6-A0IC-01 TCGA-B6-A0IE-01 TCGA-B6-A0IG-01 TCGA-B6-A0IH-01 TCGA-B6-A0IJ-01 TCGA-B6-A0IK-01 TCGA-B6-A0IM-01 TCGA-B6-A0IN-01 TCGA-B6-A0IO-01 TCGA-B6-A0IP-01 TCGA-B6-A0IQ-01 TCGA-B6-A0RE-01 TCGA-B6-A0RG-01 TCGA-B6-A0RH-01 TCGA-B6-A0RI-01 TCGA-B6-A0RL-01 TCGA-B6-A0RM-01 TCGA-B6-A0RN-01 TCGA-B6-A0RO-01 TCGA-B6-A0RP-01 TCGA-B6-A0RQ-01 TCGA-B6-A0RS-01 TCGA-B6-A0RT-01 TCGA-B6-A0RU-01 TCGA-B6-A0RV-01 TCGA-B6-A0WS-01 TCGA-B6-A0WT-01 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0.2222 -0.0996 0.8825 1.2848 2.0768 -0.3076 -0.1975 0.2711 -0.5876 -0.1103 -2.3402 -0.8823 -0.2740 -0.1664 -0.6243 1.7871 1.3904 2.5515 1.8157 0.7724 2.6443 diff --git a/end-to-end-test/local/test_data/study_es_0/data_gene_panel_matrix.txt b/end-to-end-test/local/test_data/study_es_0/data_gene_panel_matrix.txt deleted file mode 100644 index fda09dee992..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_gene_panel_matrix.txt +++ /dev/null @@ -1,21 +0,0 @@ -SAMPLE_ID mutations gistic -TCGA-A1-A0SB-01 TESTPANEL1 TESTPANEL1 -TCGA-A1-A0SB-02 TESTPANEL2 NA -TEST-A2B8-01 TESTPANEL1 TESTPANEL1 -TEST-A2FF-01 TESTPANEL1 TESTPANEL1 -TCGA-GI-A2C8-01 TESTPANEL1 TESTPANEL1 -TEST_SAMPLE_1 NA NA -TEST_SAMPLE_2 TESTPANEL1 NA -TEST_SAMPLE_3 NA TESTPANEL1 -TEST_SAMPLE_4 TESTPANEL1 TESTPANEL1 -TEST_SAMPLE_5 NA NA -TEST_SAMPLE_6 TESTPANEL1 NA -TEST_SAMPLE_7 NA NA -TEST_SAMPLE_8 NA TESTPANEL1 -TEST_SAMPLE_9 NA NA -TEST_SAMPLE_10 NA NA -TEST_SAMPLE_11 TESTPANEL1 NA -TEST_SAMPLE_12 NA NA -TEST_SAMPLE_13 TESTPANEL1 TESTPANEL1 -TEST_SAMPLE_14 TESTPANEL2 TESTPANEL1 -TEST_SAMPLE_15 TESTPANEL2 TESTPANEL1 diff --git a/end-to-end-test/local/test_data/study_es_0/data_gene_panel_testpanel1.txt b/end-to-end-test/local/test_data/study_es_0/data_gene_panel_testpanel1.txt deleted file mode 100644 index 0d6677218ab..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_gene_panel_testpanel1.txt +++ /dev/null @@ -1,3 +0,0 @@ -stable_id: TESTPANEL1 -description: Example gene panel meta file for testing purposes. -gene_list: BRCA2 ATM BRCA1 TP53 OR11H1 TMEM247 ABLIM1 ADAMTS20 CADM2 DTNB KAT2A MSH3 MYB NPIPB15 OTOR P2RY10 ACP3 \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/data_gene_panel_testpanel2.txt b/end-to-end-test/local/test_data/study_es_0/data_gene_panel_testpanel2.txt deleted file mode 100644 index 59afcdc99ab..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_gene_panel_testpanel2.txt +++ /dev/null @@ -1,3 +0,0 @@ -stable_id: TESTPANEL2 -description: Example gene panel meta file for testing purposes. -gene_list: CADM2 DTNB KAT2A MSH3 MYB NPIPB15 OTOR P2RY10 FGFR3 PIEZO1 ACP3 \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/data_generic_assay_patient_test.txt b/end-to-end-test/local/test_data/study_es_0/data_generic_assay_patient_test.txt deleted file mode 100644 index 3b3e376b63b..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_generic_assay_patient_test.txt +++ /dev/null @@ -1,3 +0,0 @@ -ENTITY_STABLE_ID name description TCGA-A1-A0SB TCGA-A1-A0SD -test_patient_generic_assay_1 test_patient_generic_assay_1 test_patient_generic_assay_1 0.370266873 0.010373016 -test_patient_generic_assay_2 test_patient_generic_assay_2 test_patient_generic_assay_2 0.002709404 0.009212318 \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/data_gistic_genes_amp.txt b/end-to-end-test/local/test_data/study_es_0/data_gistic_genes_amp.txt deleted file mode 100644 index bd9de3f33b0..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_gistic_genes_amp.txt +++ /dev/null @@ -1,12 +0,0 @@ -index chromosome region_start region_end peak_start peak_end enlarged_peak_start enlarged_peak_end n_genes_in_region genes_in_region n_genes_in_peak genes_in_peak n_genes_on_chip genes_on_chip top 3 amp cytoband q_value -2 1 85980350 86006717 85988564 85991712 85980350 85998036 1 DDAH1, 1 DDAH1, 1 1p22.3 4.1251e-13 -5 3 14688875 15111449 14857093 14909013 14687312 15109822 5 NR2C2,CCDC174,MRPS25,C3orf20,FGD5, 1 FGD5, 1 3p25.1 0.030045 -6 4 73398680 75049763 73931526 73935908 73825386 74269277 6 RNU6ATAC5P,RNU4ATAC9P,ANKRD17,COX18, 2 ANKRD17,COX18, 1 4q13.3 0.0030828 -10 8 33706219 145232496 37550875 37551406 37492872 37602218 2 ZNF703,ERLIN2, 1 ZNF703, 1 8p11.23 1.7328e-96 -11 8 33706219 145232496 128754837 128754871 128676131 128769210 1 MYC, 0 [MYC] 1 8q24.21 8.6006e-92 -12 8 33706219 145232496 42199435 42201087 42155830 42256326 4 IKBKB,DKK4, 1 1 8p11.21 9.7333e-35 -14 10 79776759 82012954 80797439 80824689 80495602 82012099 8 LINC00857,PLAC9|ENSG00000dummy.1,MBL1P,NUTM2E,NUTM2B,SFTPA1,ANXA11,SFTPD, 0 [ZMIZ1] 1 10q22.3 9.2757e-05 -21 14 37583259 38414817 38049107 38056423 37950983 38203446 4 TTC6,FOXA1,MIPOL1, 1 FOXA1, 1 14q21.1 0.001442 -23 17 34944593 39348125 37863585 37870539 37796212 37876818 6 TCAP,ERBB2,STARD3,PPP1R1B,PGAP3, 1 ERBB2, 1 17q12 8.5344e-137 -24 17 45763005 80917016 57929232 57930646 57922442 57943519 1 TUBD1, 0 [VMP1] 1 17q23.1 7.6344e-83 -29 20 44878266 62219648 52250820 52275163 52163167 52364760 1 ZNF217, 0 [ZNF217] 1 20q13.2 2.1378e-48 diff --git a/end-to-end-test/local/test_data/study_es_0/data_gsva_pvalues.txt b/end-to-end-test/local/test_data/study_es_0/data_gsva_pvalues.txt deleted file mode 100644 index 49b679af1e1..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_gsva_pvalues.txt +++ /dev/null @@ -1,8 +0,0 @@ -geneset_id TCGA-A1-A0SB-01 TCGA-A1-A0SD-01 TCGA-A1-A0SE-01 TCGA-A1-A0SH-01 TCGA-A2-A04U-01 -GO_ACYLGLYCEROL_HOMEOSTASIS 0.00497512437810945 0.00497512437810945 0.0845771144278607 0.00497512437810945 0.00497512437810945 -GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS 0.00497512437810945 0.00497512437810945 0.00497512437810945 0.00497512437810945 0.00497512437810945 -GO_ANTEROGRADE_AXONAL_TRANSPORT 0.00497512437810945 0.00995024875621891 0.00497512437810945 0.00497512437810945 0.00497512437810945 -GO_APICAL_PROTEIN_LOCALIZATION 0.00497512437810945 0.169154228855721 0.00497512437810945 0.00497512437810945 0.283582089552239 -GO_ATP_DEPENDENT_CHROMATIN_REMODELING 0.00497512437810945 0.00497512437810945 0.00497512437810945 0.00497512437810945 0.00497512437810945 -GO_CARBOHYDRATE_CATABOLIC_PROCESS 0.00497512437810945 0.00497512437810945 0.00497512437810945 0.00497512437810945 0.00497512437810945 -GO_CARDIAC_CHAMBER_DEVELOPMENT 0.00497512437810945 0.00497512437810945 0.00497512437810945 0.00497512437810945 0.00497512437810945 diff --git a/end-to-end-test/local/test_data/study_es_0/data_gsva_scores.txt b/end-to-end-test/local/test_data/study_es_0/data_gsva_scores.txt deleted file mode 100644 index 5a8e9b9d292..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_gsva_scores.txt +++ /dev/null @@ -1,8 +0,0 @@ -geneset_id TCGA-A1-A0SB-01 TCGA-A1-A0SD-01 TCGA-A1-A0SE-01 TCGA-A1-A0SH-01 TCGA-A2-A04U-01 -GO_ACYLGLYCEROL_HOMEOSTASIS -0.138520488027997 -0.442013761895225 -0.0585714696236384 0.230071239194925 -0.503435483643209 -GO_ANATOMICAL_STRUCTURE_FORMATION_INVOLVED_IN_MORPHOGENESIS 0.0643924387145285 0.15400673115399 0.163692569807521 0.139595520977635 -0.0625185753394938 -GO_ANTEROGRADE_AXONAL_TRANSPORT 0.176754359100034 0.0850941592302596 0.16205156900834 0.137268555925834 0.306120094854227 -GO_APICAL_PROTEIN_LOCALIZATION 0.371393691351566 -0.0266464977322038 0.230296971105985 0.483241270805623 0.0116198191917293 -GO_ATP_DEPENDENT_CHROMATIN_REMODELING -0.293861251463613 -0.226227563676626 -0.546556962547473 -0.0811115513543749 0.56919171543422 -GO_CARBOHYDRATE_CATABOLIC_PROCESS -0.136810023470508 -0.124208475841744 -0.0923603625069832 -0.0435626290021717 -0.17202318334593 -GO_CARDIAC_CHAMBER_DEVELOPMENT 0.0898885015206211 0.300940950401182 0.392070715092965 0.207890745464433 -0.103345910055048 diff --git a/end-to-end-test/local/test_data/study_es_0/data_methylation_hm27.txt b/end-to-end-test/local/test_data/study_es_0/data_methylation_hm27.txt deleted file mode 100644 index 3a034af7ec4..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_methylation_hm27.txt +++ /dev/null @@ -1,9 +0,0 @@ -Hugo_Symbol Entrez_Gene_Id TCGA-A1-A0SD-01 TCGA-A2-A04N-01 TCGA-A2-A04P-01 TCGA-A2-A04Q-01 TCGA-A2-A04T-01 TCGA-A2-A04U-01 TCGA-A2-A04V-01 TCGA-A2-A04W-01 TCGA-A2-A04X-01 TCGA-A2-A04Y-01 TCGA-A2-A0CL-01 TCGA-A2-A0CM-01 TCGA-A2-A0CP-01 TCGA-A2-A0CQ-01 TCGA-A2-A0CS-01 TCGA-A2-A0CU-01 TCGA-A2-A0CV-01 TCGA-A2-A0CW-01 TCGA-A2-A0CX-01 TCGA-A2-A0CY-01 TCGA-A2-A0CZ-01 TCGA-A2-A0D0-01 TCGA-A2-A0D1-01 TCGA-A2-A0D2-01 TCGA-A2-A0D3-01 TCGA-A2-A0D4-01 TCGA-A2-A0EM-01 TCGA-A2-A0EO-01 TCGA-A2-A0EQ-01 TCGA-A2-A0ER-01 TCGA-A2-A0ES-01 TCGA-A2-A0ET-01 TCGA-A2-A0EV-01 TCGA-A2-A0EW-01 TCGA-A2-A0EX-01 TCGA-A2-A0EY-01 TCGA-A2-A0T3-01 TCGA-A7-A0CD-01 TCGA-A7-A0CE-01 TCGA-A7-A0CG-01 TCGA-A7-A0CH-01 TCGA-A7-A0CJ-01 TCGA-A7-A0DA-01 TCGA-A7-A0DB-01 TCGA-A8-A06N-01 TCGA-A8-A06O-01 TCGA-A8-A06P-01 TCGA-A8-A06Q-01 TCGA-A8-A06R-01 TCGA-A8-A06T-01 TCGA-A8-A06U-01 TCGA-A8-A06X-01 TCGA-A8-A06Y-01 TCGA-A8-A06Z-01 TCGA-A8-A076-01 TCGA-A8-A079-01 TCGA-A8-A07B-01 TCGA-A8-A07C-01 TCGA-A8-A07E-01 TCGA-A8-A07F-01 TCGA-A8-A07G-01 TCGA-A8-A07I-01 TCGA-A8-A07J-01 TCGA-A8-A07L-01 TCGA-A8-A07O-01 TCGA-A8-A07P-01 TCGA-A8-A07R-01 TCGA-A8-A07S-01 TCGA-A8-A07U-01 TCGA-A8-A07W-01 TCGA-A8-A07Z-01 TCGA-A8-A081-01 TCGA-A8-A082-01 TCGA-A8-A083-01 TCGA-A8-A084-01 TCGA-A8-A085-01 TCGA-A8-A086-01 TCGA-A8-A08A-01 TCGA-A8-A08B-01 TCGA-A8-A08C-01 TCGA-A8-A08F-01 TCGA-A8-A08G-01 TCGA-A8-A08H-01 TCGA-A8-A08I-01 TCGA-A8-A08J-01 TCGA-A8-A08L-01 TCGA-A8-A08P-01 TCGA-A8-A08R-01 TCGA-A8-A08S-01 TCGA-A8-A08T-01 TCGA-A8-A08X-01 TCGA-A8-A08Z-01 TCGA-A8-A090-01 TCGA-A8-A091-01 TCGA-A8-A092-01 TCGA-A8-A093-01 TCGA-A8-A094-01 TCGA-A8-A095-01 TCGA-A8-A096-01 TCGA-A8-A097-01 TCGA-A8-A099-01 TCGA-A8-A09A-01 TCGA-A8-A09B-01 TCGA-A8-A09C-01 TCGA-A8-A09D-01 TCGA-A8-A09E-01 TCGA-A8-A09G-01 TCGA-A8-A09I-01 TCGA-A8-A09K-01 TCGA-A8-A09M-01 TCGA-A8-A09N-01 TCGA-A8-A09Q-01 TCGA-A8-A09R-01 TCGA-A8-A09T-01 TCGA-A8-A09V-01 TCGA-A8-A09W-01 TCGA-A8-A09X-01 TCGA-A8-A09Z-01 TCGA-A8-A0A1-01 TCGA-A8-A0A2-01 TCGA-A8-A0A4-01 TCGA-A8-A0A7-01 TCGA-A8-A0A9-01 TCGA-A8-A0AB-01 TCGA-AN-A03X-01 TCGA-AN-A03Y-01 TCGA-AN-A041-01 TCGA-AN-A046-01 TCGA-AN-A049-01 TCGA-AN-A04A-01 TCGA-AN-A04C-01 TCGA-AN-A04D-01 TCGA-AN-A0AJ-01 TCGA-AN-A0AK-01 TCGA-AN-A0AL-01 TCGA-AN-A0AM-01 TCGA-AN-A0AR-01 TCGA-AN-A0AS-01 TCGA-AN-A0AT-01 TCGA-AN-A0FD-01 TCGA-AN-A0FF-01 TCGA-AN-A0FJ-01 TCGA-AN-A0FK-01 TCGA-AN-A0FL-01 TCGA-AN-A0FN-01 TCGA-AN-A0FS-01 TCGA-AN-A0FT-01 TCGA-AN-A0FV-01 TCGA-AN-A0FW-01 TCGA-AN-A0FX-01 TCGA-AN-A0FY-01 TCGA-AN-A0FZ-01 TCGA-AN-A0G0-01 TCGA-AO-A03O-01 TCGA-AO-A03P-01 TCGA-AO-A03R-01 TCGA-AO-A03T-01 TCGA-AO-A03V-01 TCGA-AO-A0J2-01 TCGA-AO-A0J3-01 TCGA-AO-A0J4-01 TCGA-AO-A0J5-01 TCGA-AO-A0J6-01 TCGA-AO-A0J7-01 TCGA-AO-A0J8-01 TCGA-AO-A0J9-01 TCGA-AO-A12A-01 TCGA-AO-A12D-01 TCGA-AO-A12F-01 TCGA-AO-A12H-01 TCGA-AQ-A04J-01 TCGA-AR-A0TS-01 TCGA-AR-A0TY-01 TCGA-AR-A0U1-01 TCGA-AR-A1AH-01 TCGA-B6-A0I2-01 TCGA-B6-A0I5-01 TCGA-B6-A0I6-01 TCGA-B6-A0I8-01 TCGA-B6-A0I9-01 TCGA-B6-A0IA-01 TCGA-B6-A0IB-01 TCGA-B6-A0IC-01 TCGA-B6-A0IE-01 TCGA-B6-A0IG-01 TCGA-B6-A0IH-01 TCGA-B6-A0IJ-01 TCGA-B6-A0IM-01 TCGA-B6-A0IN-01 TCGA-B6-A0IO-01 TCGA-B6-A0IP-01 TCGA-B6-A0IQ-01 TCGA-B6-A0RH-01 TCGA-B6-A0RQ-01 TCGA-B6-A0WS-01 TCGA-B6-A0X0-01 TCGA-BH-A0AV-01 TCGA-BH-A0AY-01 TCGA-BH-A0B0-01 TCGA-BH-A0B4-01 TCGA-BH-A0B7-01 TCGA-BH-A0BD-01 TCGA-BH-A0BG-01 TCGA-BH-A0BL-01 TCGA-BH-A0BO-01 TCGA-BH-A0BP-01 TCGA-BH-A0BQ-01 TCGA-BH-A0BR-01 TCGA-BH-A0BV-01 TCGA-BH-A0BW-01 TCGA-BH-A0C1-01 TCGA-BH-A0C7-01 TCGA-BH-A0DE-01 TCGA-BH-A0DL-01 TCGA-BH-A0DO-01 TCGA-BH-A0DT-01 TCGA-BH-A0DX-01 TCGA-BH-A0DZ-01 TCGA-BH-A0E6-01 TCGA-BH-A0E7-01 TCGA-BH-A0E9-01 TCGA-BH-A0EA-01 TCGA-BH-A0EB-01 TCGA-BH-A0EE-01 TCGA-BH-A0EI-01 TCGA-BH-A0H5-01 TCGA-BH-A0HL-01 TCGA-BH-A0HO-01 TCGA-BH-A0HQ-01 TCGA-BH-A0HU-01 TCGA-BH-A0HW-01 TCGA-BH-A0W7-01 TCGA-BH-A18F-01 TCGA-BH-A18G-01 TCGA-BH-A18H-01 TCGA-BH-A18I-01 TCGA-BH-A18J-01 TCGA-BH-A18K-01 TCGA-BH-A18L-01 TCGA-BH-A18M-01 TCGA-BH-A18N-01 TCGA-BH-A18P-01 TCGA-BH-A18Q-01 TCGA-BH-A18R-01 TCGA-BH-A18S-01 TCGA-BH-A18T-01 TCGA-BH-A18U-01 TCGA-BH-A18V-01 TCGA-C8-A12K-01 TCGA-C8-A12L-01 TCGA-C8-A12M-01 TCGA-C8-A12N-01 TCGA-C8-A12O-01 TCGA-C8-A12P-01 TCGA-C8-A12Q-01 TCGA-C8-A12T-01 TCGA-C8-A12U-01 TCGA-C8-A12V-01 TCGA-C8-A12W-01 TCGA-C8-A12X-01 TCGA-C8-A12Y-01 TCGA-C8-A12Z-01 TCGA-C8-A130-01 TCGA-C8-A131-01 TCGA-C8-A132-01 TCGA-C8-A133-01 TCGA-C8-A134-01 TCGA-C8-A135-01 TCGA-C8-A137-01 TCGA-C8-A138-01 TCGA-D8-A13Y-01 TCGA-D8-A13Z-01 TCGA-D8-A140-01 TCGA-D8-A141-01 TCGA-D8-A142-01 TCGA-D8-A143-01 TCGA-D8-A145-01 TCGA-D8-A146-01 TCGA-D8-A147-01 TCGA-E2-A10A-01 TCGA-E2-A14O-01 TCGA-E2-A14P-01 TCGA-E2-A14Q-01 TCGA-E2-A14R-01 TCGA-E2-A14S-01 TCGA-E2-A14T-01 TCGA-E2-A14V-01 TCGA-E2-A14W-01 TCGA-E2-A14X-01 TCGA-E2-A14Y-01 TCGA-E2-A14Z-01 TCGA-E2-A150-01 TCGA-E2-A152-01 TCGA-E2-A153-01 TCGA-E2-A154-01 TCGA-E2-A155-01 TCGA-E2-A156-01 TCGA-E2-A158-01 TCGA-E2-A159-01 TCGA-E2-A15C-01 TCGA-E2-A15D-01 TCGA-E2-A15F-01 TCGA-E2-A15G-01 TCGA-E2-A15H-01 TCGA-E2-A15L-01 TCGA-E2-A15M-01 TCGA-E2-A15O-01 TCGA-E2-A15P-01 TCGA-E2-A15R-01 TCGA-E2-A15S-01 TCGA-E2-A15T-01 -ATP2A1 487 0.609122203 0.732998009 0.3107555 0.753653948 0.630471956 0.204340405 0.409036494 0.654542164 0.679810052 0.463490208 0.739355446 0.634361233 0.727853572 0.536239427 0.637205486 0.565873476 0.689164087 0.367937777 0.445883877 0.201673706 0.628473052 0.773616546 0.18947663 0.430510392 0.722992638 0.76346299 0.620103026 0.582038786 0.656629921 0.80478808 0.567346939 0.696146176 0.461163375 0.402394107 0.660607903 0.341507435 0.577935646 0.796064401 0.632403231 0.540501422 0.5245066 0.457034601 0.435599662 0.661683144 0.702800241 0.482525148 0.475782957 0.501066395 0.591550134 0.515195682 0.640327848 0.421049115 0.762699786 0.333746678 0.475900975 0.731226739 0.614313562 0.27581829 0.405605889 0.643888242 0.325950354 0.742842764 0.550514152 0.814752773 0.381406638 0.746706192 0.350836268 0.753979239 0.744094978 0.675221922 0.759123512 0.756875499 0.836833369 0.734589913 0.669442709 0.671520488 0.61010101 0.320611369 0.290778822 0.811468117 0.39904042 0.38520386 0.677573034 0.703026842 0.612781323 0.489663794 0.709403796 0.611574497 0.558440937 0.440298832 0.518280632 0.348202755 0.822394519 0.84144184 0.467725168 0.449493738 0.761106661 0.60251674 0.733923733 0.311263691 0.370584927 0.703921397 0.50853549 0.408823117 0.270866881 0.780788029 0.360507149 0.461661415 0.587784653 0.457655297 0.702533686 0.760477076 0.658590833 0.570365646 0.454723005 0.418598272 0.720502092 0.41878067 0.763957382 0.678017026 0.667204425 0.572660742 0.721768516 0.826502798 0.782154952 0.785757195 0.652282121 0.482192559 0.575404451 0.59001824 0.376171486 0.178157447 0.749805616 0.459618962 0.241954177 0.731658464 0.645722727 0.435050547 0.767873114 0.521294908 0.537456348 0.135410106 0.825734266 0.238250462 0.638517489 0.804042501 0.714900406 0.351216312 0.288574127 0.683065478 0.18636624 0.578089507 0.493153145 0.656511403 0.5614636 0.861487777 0.779799771 0.447028048 0.386954909 0.526465621 0.511365863 0.671036789 0.620724012 0.772030563 0.43564258 0.682024169 0.537182448 0.423364953 0.836834209 0.615620214 0.409421842 0.670759516 0.785485065 0.520386266 0.744217281 0.460027373 0.777711367 0.711291763 0.547583753 0.581077477 0.785451458 0.619700688 0.656774131 0.450974008 0.679961238 0.639483439 0.790013635 0.716822493 0.364688857 0.589056875 0.625775743 0.409529756 0.248809524 0.644430052 0.4695412 0.453430353 0.70976155 0.554114241 0.48787366 0.677985691 0.442351511 0.740828733 0.478542234 0.633528265 0.560882353 0.67419452 0.576001431 0.629139073 0.538757794 0.419117647 0.70017771 0.307745031 0.829328915 0.44156046 0.576650452 0.567131704 0.605028486 0.753524631 0.720625732 0.739911091 0.53344168 0.346117231 0.673813778 0.384416219 0.706973899 0.780809031 0.802808023 0.826411509 0.556823116 0.46946316 0.825217652 0.554899497 0.331681416 0.318591132 0.526461823 0.808632627 0.409683638 0.28260717 0.21000975 0.45758092 0.54184 0.506641063 0.349542988 0.585042017 0.674857973 0.483842506 0.531020288 0.210842226 0.560278207 0.261366611 0.687325628 0.756828528 0.66263699 0.285916378 0.543118467 0.724678457 0.646595461 0.818398268 0.542193331 0.834920635 0.636566715 0.353957829 0.26874609 0.603629417 0.629732831 0.602204783 0.399380805 0.597206054 0.759868421 0.432910903 0.436068305 0.333960843 0.473222749 0.645156549 0.645631068 0.685026178 0.222445363 0.456077016 0.176347389 0.560737656 0.818289963 0.361150568 0.574973907 0.252588596 0.70010773 0.424093781 0.387728938 0.369502383 0.523792227 0.27117755 0.459510037 0.754531618 0.422002622 0.500877809 0.751843194 0.175917283 0.743227326 0.077077364 0.603660886 0.616939105 0.727638461 0.756261596 0.657759176 0.515903879 0.255013574 0.579554092 0.646670666 0.504424779 0.799496116 0.875 0.293300248 -SLMAP 7871 0.098467778 0.121041994 0.306626399 0.614627887 0.325098152 0.089218329 0.163586447 0.265482359 0.395396605 0.310261812 0.615819209 0.369491525 0.233476341 0.237350642 0.199854121 0.265515824 0.146601942 0.277889882 0.306995669 0.238976876 0.36511773 0.233660299 0.203431373 0.445460132 0.169285714 0.193684933 0.203741324 0.243800296 0.540030098 0.213554678 0.190157176 0.67703061 0.319614847 0.197322282 0.279136357 0.816648186 0.15436777 0.132947478 0.221780163 0.35463153 0.11868066 0.155383979 0.165189125 0.208960083 0.147031022 0.69814933 0.190624143 0.236646954 0.167679627 0.179158029 0.264487059 0.264549089 0.0951289 0.159358936 0.215724272 0.15818742 0.126229073 0.455072464 0.294163813 0.208240036 0.363202108 0.173167051 0.356383562 0.648943557 0.324317273 0.198650128 0.204847478 0.160977665 0.642088512 0.399860757 0.179027584 0.436134853 0.777031565 0.18404822 0.084494774 0.103042748 0.180520733 0.210139777 0.27246745 0.110412752 0.226283541 0.16974402 0.569978078 0.293190159 0.282568807 0.352285284 0.52587917 0.405863278 0.471816578 0.160382187 0.336499664 0.220473899 0.820213893 0.759124759 0.223899879 0.152256287 0.400637122 0.264990329 0.284346027 0.224841289 0.186858631 0.548574623 0.301619256 0.149902661 0.309715513 0.774769537 0.280159004 0.572233759 0.361104629 0.36186146 0.177573062 0.218809392 0.479083267 0.165347188 0.142643715 0.198720333 0.477773627 0.801693055 0.26551927 0.205175014 0.148613861 0.598799461 0.160928286 0.336295522 0.650740116 0.398950966 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0.053636444 0.059384301 0.045680082 0.059324463 0.053976121 0.094828853 0.067572081 0.061913696 0.093585958 0.048732689 0.0995276 0.02903633 0.106769577 0.054035607 0.051579903 0.051620465 0.063862084 0.051637954 0.051409186 0.043887786 0.043478261 0.049129319 0.054682419 0.054398047 0.095660531 0.058067941 0.0407585 0.045374103 0.05920273 0.053619566 0.075839606 0.115687086 0.106268222 0.054083584 0.11885786 0.087518082 0.047895936 0.109372221 0.067112873 0.049439471 0.055721965 0.076975945 0.175481112 0.064142413 0.06145311 0.054527677 0.0376154 0.063152195 0.033785898 0.056858257 0.057572879 0.081352669 0.067271617 0.077120111 0.046666667 0.104357965 0.066851129 0.047105721 0.05532448 0.104297994 0.056101344 0.040870699 0.044021603 0.08007389 0.117212322 0.044502283 0.048377313 0.049842786 0.054179831 0.054585547 0.076722742 0.087392131 0.044261065 0.064054308 0.072463768 0.063048911 0.08575776 0.04103121 0.069680305 0.086048052 0.053768425 0.065937707 0.102589718 0.035025858 0.049484536 0.066155482 0.098198322 0.076052512 0.064228812 0.059132815 0.066289691 0.047927775 0.067582584 0.059540087 0.095133167 0.07092255 0.079877894 0.046116694 0.046805349 0.063235575 0.081742312 0.082838758 0.09867651 0.121717172 0.043304715 0.058586402 0.125585259 0.072998208 0.041265082 0.068345324 0.071490922 0.086378078 0.096935628 0.052678373 0.070534404 0.055001062 0.047244094 0.067676656 0.055932203 0.099952517 0.054238444 0.077211922 0.118247103 0.0610965 0.065156815 0.077076118 0.048030852 0.042756108 0.05713437 0.107607843 0.069888761 0.054772453 0.04833128 0.086975875 0.054431263 0.056847892 0.054791709 0.056152072 0.071544826 0.060652828 0.074941828 0.067986505 0.034714187 0.05237622 0.068180211 0.0472281 0.054421195 0.040723982 0.073139053 0.104754783 -CCDC88B 283234 0.776356454 0.791176897 0.67049496 0.633411765 0.731886318 0.822929779 0.762782163 0.693702011 0.700895585 0.761310782 0.559674736 0.752169701 0.720126616 0.814302584 0.748815588 0.748417809 0.739607517 0.703573351 0.7249637 0.775745392 0.71945665 0.791979633 0.793828274 0.471258663 0.780943691 0.756234161 0.767438834 0.748336191 0.661447305 0.77121192 0.785747396 0.804854489 0.698327059 0.713570187 0.733936188 0.744864841 0.797328288 0.809291761 0.632830924 0.735904031 0.76704215 0.827486597 0.764332133 0.745765709 0.805707496 0.730341597 0.719606538 0.774601049 0.764930159 0.75456025 0.77590954 0.741778264 0.778608783 0.723564215 0.729234127 0.754702346 0.76997508 0.718522686 0.707411403 0.752607909 0.698147212 0.712143213 0.691433183 0.759286404 0.38267065 0.750598444 0.549713522 0.776353909 0.642194699 0.743039929 0.773637954 0.729495063 0.756472758 0.723288914 0.790370733 0.769000401 0.719871452 0.740981332 0.74317877 0.802947508 0.763572143 0.707003968 0.556694114 0.704869851 0.70002007 0.75544624 0.716669761 0.517689868 0.799777755 0.736980049 0.633213944 0.722682523 0.773360411 0.787450561 0.734348632 0.782787311 0.673010313 0.738606589 0.711304573 0.67024474 0.796026271 0.763284429 0.748534524 0.780073617 0.706206685 0.738431022 0.704549266 0.759256165 0.760996637 0.739093466 0.784517862 0.729646479 0.710820857 0.754866976 0.76407687 0.723304526 0.698542505 0.581588807 0.730479262 0.815103991 0.780243921 0.563238476 0.790890796 0.823706443 0.691676926 0.752979599 0.770984292 0.752052191 0.749647657 0.748554465 0.74221969 0.815441828 0.723366595 0.665921318 0.673968416 0.722761014 0.543867219 0.734648656 0.518235105 0.812448946 0.764120398 0.288893246 0.799567572 0.783800819 0.655516716 0.699769489 0.774785466 0.661242573 0.810643712 0.760196856 0.418423647 0.630964985 0.329583071 0.825058093 0.772433927 0.794736421 0.726923671 0.79775662 0.767779547 0.845033504 0.69645903 0.729847712 0.511348643 0.766660431 0.76304471 0.716659297 0.777438786 0.712077396 0.849251184 0.786850503 0.691915603 0.597753827 0.439228393 0.641768467 0.783815205 0.682052354 0.749710289 0.790452173 0.790641787 0.79237925 0.80312913 0.774724052 0.848478712 0.771071234 0.794667643 0.732089805 0.702638763 0.764984571 0.626446312 0.782445037 0.761592064 0.566497496 0.858063232 0.785865932 0.761388945 0.789345001 0.697423698 0.696744473 0.76077445 0.715810003 0.635451143 0.69623774 0.573612974 0.674096929 0.670667286 0.788813225 0.753437554 0.770289395 0.762039786 0.700698466 0.737293542 0.76290279 0.672586041 0.701258506 0.783362911 0.761292033 0.740279484 0.754589832 0.700944593 0.778729858 0.761483589 0.728767557 0.724579419 0.744688051 0.759059625 0.622419467 0.79810482 0.763402116 0.763035846 0.76414238 0.735556686 0.752293002 0.729518885 0.779628801 0.672708574 0.723225715 0.709670501 0.726261058 0.786216015 0.755702016 0.790268606 0.775510765 0.732822708 0.667147008 0.778169254 0.396843316 0.784930047 0.645723798 0.663258537 0.785118059 0.799892808 0.788934426 0.766518056 0.765595281 0.728609486 0.772144135 0.72685799 0.616924855 0.729579099 0.771699693 0.785464047 0.766060235 0.788090829 0.614968977 0.717386852 0.803034323 0.828509461 0.757854924 0.785215958 0.712030282 0.702578695 0.712256586 0.797040551 0.651885719 0.434420332 0.804590083 0.682362806 0.741224171 0.689513813 0.806653926 0.759584407 0.736410517 0.779815112 0.663048154 0.755437526 0.738915529 0.751947087 0.699877024 0.709092162 0.770755387 0.777251897 0.696063165 0.75633458 0.714423813 0.821315242 0.75531761 0.790060227 0.600342179 0.695202149 0.662442283 0.754718192 0.745703054 0.805262835 0.751042876 0.770196417 0.685126358 0.786158035 0.759700223 0.820614956 0.83666253 0.794550659 diff --git a/end-to-end-test/local/test_data/study_es_0/data_mutational_signature.txt b/end-to-end-test/local/test_data/study_es_0/data_mutational_signature.txt deleted file mode 100644 index 04c4351cdc6..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_mutational_signature.txt +++ /dev/null @@ -1,61 +0,0 @@ -ENTITY_STABLE_ID name description confidenceStatement TCGA-A1-A0SB-01 TCGA-A1-A0SD-01 TCGA-A1-A0SE-01 TCGA-A1-A0SH-01 TCGA-A2-A04U-01 TCGA-B6-A0RS-01 TCGA-BH-A0HP-01 TCGA-BH-A18P-01 -mean_1 mean_1 mean_1 Signature 1, the aging signature, is detected in this case. 0.370266873 0.010373016 0.005419294 0.022753384 0.037687823 0.016708976 0.100042446 0.104214723 -mean_10 mean_10 mean_10 Signature 10, the POLE signature, is detected in this case. It is associated with functions to the exonucleus domain of the POLE gene and enormous mutational burden. Oftentimes MMR signatures 6, 14,16, 20,21 and 26 co-occur with the POLE signature. 0.002709404 0.009212318 0.002650657 0.005475484 0.074175715 0.033049207 0.027323826 0.008861145 -mean_11 mean_11 mean_11 Signature 11, the Temozolomide (TMZ) signature, is detected in this case. 0.006035782 0.010095773 0.011926486 0.010637541 0.012168938 0.006641113 0.025730547 0.020463421 -mean_12 mean_12 mean_12 Signature 12 is detected in this case. We are not confident that we are able to detect signature 9 in the IMPACT cohort. In the literature it is found in liver cancer. 0.026432791 0.012953054 0.002587003 0.02225923 0.031026708 0.01642898 0.022392184 0.013437576 -mean_13 mean_13 mean_13 Signature 13, the APOBEC signature, is detected in this case. This signature often coccurs with signature 2, the other APOBEC signature. 0.002533773 0.012080707 0.06750656 0.403672528 0.011124 0.007631916 0.018970187 0.006076126 -mean_14 mean_14 mean_14 Signature 14, the signature of simultaneous MMR and POLE dysfunction is detected in this case. This signature usually occurs in cases with the POLE signature (signature 10) and other MMR signatures (6, 15, 20, 21 26). 0.006562519 0.009705064 0.005008429 0.01169992 0.02000342 0.014500145 0.034613722 0.030906098 -mean_15 mean_15 mean_15 Signature 15, a MMR signature, is detected in this case. It is usually associated with high mutational burden. 0.011970661 0.013967505 0.003583145 0.066176992 0.024139531 0.012422269 0.035150854 0.024233274 -mean_16 mean_16 mean_16 Signature 16 is detected in this case. We are not confident that we are able to detect signature 16 in the IMPACT cohort. In the literature it is associated with Liver cancer and alcohol consumption. 0.018075581 0.016174795 0.004085478 0.044836595 0.021500178 0.033960161 0.017962899 0.018849434 -mean_17 mean_17 mean_17 Signature 17 is detected in this case. The aetiology of this signature is unknown. It is predominantly found in gastric cancers. 0.004132642 0.017328434 0.001582939 0.00748642 0.018217142 0.008715209 0.029658706 0.021823903 -mean_18 mean_18 mean_18 Signature 18 is detected in this case. This signature is associated with MUTYH dysfunction and neuroblastoma. 0.005101312 0.027691339 0.078176692 0.007035636 0.016781154 0.226542324 0.030862216 0.05876765 -mean_19 mean_19 mean_19 Signature 19 is detected in this case. We are not confident that we are able to detect signature 19 in the IMPACT cohort. 0.018196853 0.016768977 0.010922822 0.014000266 0.011772131 0.011231503 0.035316214 0.094947481 -mean_2 mean_2 mean_2 Signature 2, the APOBEC signature, is detected in this case. This signature often coccurs with signature 13, the other APOBEC signature. 0.002663685 0.009194336 0.003716748 0.067693367 0.019050891 0.008820839 0.024258107 0.005814542 -mean_20 mean_20 mean_20 Signature 20 is detected in this case. This signature is associated with MMR and usually occurs in cases with the POLE signature (signature 10) and other MMR signatures (6, 14, 15, 21, 26). 0.03066836 0.012905178 0.003569324 0.014119672 0.022474579 0.014813438 0.055457368 0.030155165 -mean_21 mean_21 mean_21 Signature 21 is detected in this case. This signature is associated with MMR and usually co-occurs with other MMR signatures (6, 14, 15, 21, 26). 0.010964959 0.011272353 0.002258851 0.051853446 0.281501917 0.01281546 0.044179589 0.008190074 -mean_22 mean_22 mean_22 Signature 22 is detected in this case. We are not confident that we are able to detect signature 22 in the IMPACT cohort. In the literature it is associated with exposure to Aristolochic Acid. 0.028491957 0.010217024 0.004586289 0.011222009 0.019770493 0.008535491 0.024637853 0.020913163 -mean_23 mean_23 mean_23 Signature 23 is detected in this case. We are not confident that we are able to detect signature 23 in the IMPACT cohort. 0.00396734 0.010046981 0.01277244 0.007964559 0.011004478 0.008391836 0.034836096 0.03286779 -mean_24 mean_24 mean_24 Signature 24 is detected in this case. We are not confident that we are able to detect signature 24 in the IMPACT cohort. In the literature it is associated with aflatoxin exposure. In our cohort we believe it is detected by accident in cases with the smoking signature (signature 4). 0.032792827 0.078245387 0.066150339 0.014742662 0.017324086 0.061761186 0.017605536 0.051708779 -mean_25 mean_25 mean_25 Signature 25 is detected in this case. We are not confident that we are able to detect signature 25 in the IMPACT cohort. 0.011646217 0.048154399 0.03076214 0.013605822 0.038587852 0.013944057 0.023546505 0.037501919 -mean_26 mean_26 mean_26 Signature 26 is detected in this case. This signature is associated with MMR and usually co-occurs with other MMR signatures (6, 14, 15, 20, 21). 0.015537112 0.013825612 0.002464907 0.028813826 0.070298683 0.01999462 0.030799083 0.009143951 -mean_27 mean_27 mean_27 Signature 27 is detected in this case. We are not confident that we are able to detect signature 27 in the IMPACT cohort. 0.003465676 0.012766477 0.004909123 0.00658944 0.010038977 0.008511252 0.023474418 0.009076485 -mean_28 mean_28 mean_28 Signature 28 is detected in this case. We are not confident that we are able to detect signature 28 in the IMPACT cohort. It often co-occurs with signature 28. 0.003755223 0.011667726 0.001739293 0.005067195 0.012723938 0.007772049 0.021565925 0.007837668 -mean_29 mean_29 mean_29 Signature 29, the mutational signature of chewing tobacco is detected in this case. 0.010813509 0.013306168 0.034629865 0.011708457 0.01498353 0.042949985 0.030807758 0.04361619 -mean_3 mean_3 mean_3 Signature 3, the signature of Homologous Recombination Repair deficiency is detected in this case. This signature is most commonly associated with BRCA mutations. 0.012076334 0.399378181 0.058149399 0.024712129 0.022463858 0.069775315 0.022253226 0.023919542 -mean_30 mean_30 mean_30 Signature 30 is detected in this case. We are not confident that we are able to detect signature 30 in the IMPACT cohort. 0.021187235 0.019180665 0.007104322 0.015637667 0.021432941 0.020436345 0.036460701 0.022300431 -mean_4 mean_4 mean_4 Signature 4, the smoking signature is detected in this case. 0.02998631 0.05161966 0.066550323 0.017921856 0.016096543 0.179497941 0.024659786 0.097992724 -mean_5 mean_5 mean_5 Signature 5 is detected in this case. We are not confident that we are able to detect signature 5 in the IMPACT cohort. It is a 'flat' signature--when it is detected it is more likely to be an artefact. In the literature it is associated with age. 0.065346508 0.065105663 0.005317173 0.039082099 0.025806853 0.071908149 0.028765511 0.030413987 -mean_6 mean_6 mean_6 Signature 6, a MMR signature, is detected in this case. It is usually associated with high mutational burden. This signature often co-occurs with other MMR signatures (14, 15, 20, 21 26). 0.215904676 0.009298163 0.004855268 0.020464262 0.030032579 0.01055262 0.094946543 0.100148333 -mean_7 mean_7 mean_7 Signature 7, the UV light signature, is detected in this case. 0.008428142 0.011008883 0.009634254 0.010727403 0.037470752 0.007375711 0.036357093 0.025096172 -mean_8 mean_8 mean_8 Signature 8 is detected in this case. We are not confident that we are able to detect signature 8 in the IMPACT cohort. It is a 'flat' signature--when it is detected it is more likely to be an artefact. In the literature it is associated with HRD defects. 0.009033066 0.04154581 0.483003282 0.014265047 0.029063134 0.028977736 0.026974185 0.031083861 -mean_9 mean_9 mean_9 Signature 9 is detected in this case. We are not confident that we are able to detect signature 9 in the IMPACT cohort. In the literature it is associated with POLH. 0.011252674 0.014910352 0.004377151 0.007775086 0.021277177 0.015334168 0.020390915 0.009638392 -confidence_1 confidence_1 confidence_1 NA 0.653 0.066 0.05 0.129 0.1415 0.079 0.234 0.274 -confidence_10 confidence_10 confidence_10 NA 0.0235 0.0645 0.022 0.0465 0.2595 0.1505 0.1 0.062 -confidence_11 confidence_11 confidence_11 NA 0.0465 0.067 0.115 0.0775 0.0745 0.0535 0.0995 0.098 -confidence_12 confidence_12 confidence_12 NA 0.1375 0.068 0.024 0.1275 0.1165 0.0945 0.09 0.074 -confidence_13 confidence_13 confidence_13 NA 0.0185 0.0685 0.5655 0.936 0.0665 0.052 0.083 0.0515 -confidence_14 confidence_14 confidence_14 NA 0.054 0.067 0.0405 0.0785 0.0845 0.0755 0.119 0.1415 -confidence_15 confidence_15 confidence_15 NA 0.0745 0.0745 0.034 0.284 0.092 0.0745 0.1185 0.1215 -confidence_16 confidence_16 confidence_16 NA 0.1025 0.0795 0.031 0.196 0.1 0.139 0.0815 0.0895 -confidence_17 confidence_17 confidence_17 NA 0.036 0.0825 0.011 0.0605 0.094 0.0555 0.11 0.1105 -confidence_18 confidence_18 confidence_18 NA 0.0445 0.1105 0.297 0.0615 0.069 0.434 0.1055 0.1965 -confidence_19 confidence_19 confidence_19 NA 0.0955 0.073 0.0885 0.086 0.0725 0.065 0.114 0.2685 -confidence_2 confidence_2 confidence_2 NA 0.0235 0.0525 0.0325 0.293 0.0945 0.057 0.1015 0.0415 -confidence_20 confidence_20 confidence_20 NA 0.14 0.0745 0.0305 0.0835 0.101 0.0725 0.1505 0.1325 -confidence_21 confidence_21 confidence_21 NA 0.0725 0.072 0.0215 0.24 0.5255 0.09 0.131 0.0635 -confidence_22 confidence_22 confidence_22 NA 0.2335 0.0685 0.0415 0.09 0.0865 0.063 0.103 0.126 -confidence_23 confidence_23 confidence_23 NA 0.0365 0.0605 0.12 0.0635 0.064 0.0615 0.112 0.1525 -confidence_24 confidence_24 confidence_24 NA 0.1975 0.1925 0.297 0.0905 0.081 0.215 0.08 0.195 -confidence_25 confidence_25 confidence_25 NA 0.0695 0.134 0.132 0.083 0.123 0.079 0.094 0.1365 -confidence_26 confidence_26 confidence_26 NA 0.0955 0.073 0.023 0.1475 0.183 0.0995 0.109 0.067 -confidence_27 confidence_27 confidence_27 NA 0.0305 0.0795 0.05 0.053 0.0675 0.0605 0.0955 0.064 -confidence_28 confidence_28 confidence_28 NA 0.0325 0.077 0.0135 0.044 0.0785 0.0555 0.1 0.0605 -confidence_29 confidence_29 confidence_29 NA 0.0835 0.0725 0.172 0.074 0.08 0.138 0.111 0.164 -confidence_3 confidence_3 confidence_3 NA 0.083 0.629 0.1835 0.12 0.101 0.21 0.0845 0.1215 -confidence_30 confidence_30 confidence_30 NA 0.123 0.096 0.0625 0.091 0.0995 0.107 0.1145 0.107 -confidence_4 confidence_4 confidence_4 NA 0.1685 0.1485 0.2155 0.1005 0.08 0.382 0.0995 0.2815 -confidence_5 confidence_5 confidence_5 NA 0.218 0.1645 0.0445 0.1665 0.1045 0.187 0.114 0.1155 -confidence_6 confidence_6 confidence_6 NA 0.4325 0.062 0.043 0.1275 0.113 0.069 0.2225 0.2885 -confidence_7 confidence_7 confidence_7 NA 0.0705 0.075 0.0975 0.0765 0.137 0.0545 0.1105 0.1225 -confidence_8 confidence_8 confidence_8 NA 0.07 0.132 0.859 0.0935 0.106 0.123 0.106 0.131 -confidence_9 confidence_9 confidence_9 NA 0.081 0.0775 0.033 0.0615 0.0845 0.082 0.09 0.064 \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/data_mutations_extended.maf b/end-to-end-test/local/test_data/study_es_0/data_mutations_extended.maf deleted file mode 100644 index 32fc3e84e9d..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_mutations_extended.maf +++ /dev/null @@ -1,38 +0,0 @@ -#version 2.4 -Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer MA:FImpact MA:FIS Amino_Acid_Change MA:link.MSA MA:link.PDB MA:link.var Tumor_Sample_UUID Matched_Norm_Sample_UUID HGVSc HGVSp HGVSp_Short Transcript_ID Exon_Number t_depth t_ref_count t_alt_count n_depth n_ref_count n_alt_count all_effects Allele Gene Feature Feature_type Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation ALLELE_NUM DISTANCE SYMBOL SYMBOL_SOURCE HGNC_ID BIOTYPE CANONICAL CCDS ENSP SWISSPROT TREMBL UNIPARC RefSeq SIFT PolyPhen EXON INTRON DOMAINS GMAF AFR_MAF AMR_MAF ASN_MAF EAS_MAF EUR_MAF SAS_MAF AA_MAF EA_MAF CLIN_SIG SOMATIC PUBMED MOTIF_NAME MOTIF_POS HIGH_INF_POS MOTIF_SCORE_CHANGE IMPACT PICK VARIANT_CLASS TSL HGVS_OFFSET PHENO chromosome_name_wu start_wu stop_wu reference_wu variant_wu type_wu gene_name_wu transcript_name_wu transcript_species_wu transcript_source_wu transcript_version_wu strand_wu transcript_status_wu trv_type_wu c_position_wu amino_acid_change_wu ucsc_cons_wu domain_wu all_domains_wu deletion_substructures_wu transcript_error_wu default_gene_name_wu gene_name_source_wu ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf evs_ea evs_aa evs_all chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU EVS_EA EVS_AA EVS_All cbp_driver cbp_driver_annotation cbp_driver_tiers cbp_driver_tiers_annotation Zygosity.name Zygosity.code -OR11H1 genome.wustl.edu GRCh37 22 16449539 16449539 -1 Missense_Mutation SNP A A G TCGA-A1-A0SB-01 TCGA-A1-A0SB-10 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx low 1.49 V89A getma.org/?cm=msa&ty=f&p=O11H1_HUMAN&rb=1&re=154&var=V89A getma.org/?cm=var&var=hg19,22,16449539,A,G&fts=all db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 c.266T>C p.Val89Ala p.V89A ENST00000252835 1/1 0 0 OR11H1,missense_variant,p.Val89Ala,ENST00000252835,NM_001005239.1; G ENSG00000130538 ENST00000252835 Transcript missense_variant 267/982 266/981 89/326 V/A gTc/gCc rs199856986,COSM1484040 1 OR11H1 HGNC 15404 protein_coding YES CCDS33594.1 ENSP00000252835 O11H1_HUMAN UPI000004B1CF NM_001005239.1 deleterious(0.02) possibly_damaging(0.589) 1/1 Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF201,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321 0,1 MODERATE 1 SNV 0,1 22 16449539 16449539 A G SNP OR11H1 ENST00000252835 human ensembl 69_37n -1 known missense c.266 p.V89A 234 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 65 0 0 38 6 13.64 - - - 22 16449539 16449539 A G SNP OR11H1 ENST00000252835 human ensembl 69_37n -1 known missense c.266 p.V89A 234 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11H1 HGNC - - - Putative_Driver Test driver -TMEM247 genome.wustl.edu GRCh37 2 46707888 46707888 1 Frame_Shift_Del DEL G G - TCGA-A1-A0SB-01 TCGA-A1-A0SB-10 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 c.463delG p.Ala155ArgfsTer59 p.A155Rfs*59 ENST00000434431 2/3 0 0 TMEM247,frameshift_variant,p.Ala155ArgfsTer59,ENST00000434431,NM_001145051.2;TMEM247,intron_variant,,ENST00000432241,; - ENSG00000187600 ENST00000434431 Transcript frameshift_variant 462/659 462/659 154/219 E/X gaG/ga COSM1408208,~rs70940616 1 TMEM247 HGNC 42967 protein_coding YES CCDS56117.1 ENSP00000388684 TM247_HUMAN UPI0000366EF8 NM_001145051.2 2/3 Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15444 -:0.0202 -:0.0439 1 HIGH 1 deletion 1 1 2 46707888 46707888 G - DEL TMEM247 ENST00000434431 human ensembl 69_37n 1 known frame_shift_del c.462 p.A155fs 83 - no_stop_codon:bad_bp_length_for_coding_region TMEM247 HGNC ENSG00000187600 20 0 0 7 3 30 - - - 2 46707888 46707888 G - DEL TMEM247 ENST00000434431 human ensembl 69_37n 1 known frame_shift_del c.462 p.A155fs 83 - no_stop_codon:bad_bp_length_for_coding_region TMEM247 HGNC - - - Putative_Passenger Test passenger Class 2 Class annotation -ABLIM1 genome.wustl.edu GRCh37 10 116247760 116247760 -1 Missense_Mutation SNP T T C TCGA-A1-A0SB-01 TCGA-A1-A0SB-10 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx medium 3.39 H333R getma.org/?cm=msa&ty=f&p=ABLM1_HUMAN&rb=285&re=339&var=H333R getma.org/pdb.php?prot=ABLM1_HUMAN&from=285&to=339&var=H333R getma.org/?cm=var&var=hg19,10,116247760,T,C&fts=all db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 c.998A>G p.His333Arg p.H333R ENST00000277895 8/23 0 0 ABLIM1,missense_variant,p.His273Arg,ENST00000533213,;ABLIM1,missense_variant,p.His273Arg,ENST00000369252,NM_001003408.1,NM_001003407.1;ABLIM1,missense_variant,p.His17Arg,ENST00000392952,NM_006720.3;ABLIM1,missense_variant,p.His17Arg,ENST00000369266,;ABLIM1,missense_variant,p.His333Arg,ENST00000277895,NM_002313.5;ABLIM1,missense_variant,p.His17Arg,ENST00000369253,;ABLIM1,missense_variant,p.His17Arg,ENST00000428430,;ABLIM1,upstream_gene_variant,,ENST00000440467,;ABLIM1,missense_variant,p.His273Arg,ENST00000392955,;ABLIM1,missense_variant,p.His273Arg,ENST00000369256,; C ENSG00000099204 ENST00000277895 Transcript missense_variant 1096/2657 998/2337 333/778 H/R cAt/cGt COSM1474374,COSM1474373,COSM1474375 1 ABLIM1 HGNC 78 protein_coding YES CCDS7590.1 ENSP00000277895 ABLM1_HUMAN UPI0000418D06 NM_002313.5 deleterious(0) probably_damaging(0.988) 8/23 PROSITE_profiles:PS50023,hmmpanther:PTHR24213:SF18,hmmpanther:PTHR24213,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716 1,1,1 MODERATE 1 SNV 1,1,1 10 116247760 116247760 T C SNP ABLIM1 ENST00000277895 human ensembl 69_37n -1 known missense c.998 p.H333R 1000 smart_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 77 0 0 36 13 26.53 - - - 10 116247760 116247760 T C SNP ABLIM1 ENST00000277895 human ensembl 69_37n -1 known missense c.998 p.H333R 1000 smart_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC - - - Putative_Driver Test driver Class 1 Class annotation -ADAMTS20 genome.wustl.edu GRCh37 12 43944926 43944926 -1 Missense_Mutation SNP T T C TCGA-A1-A0SB-01 TCGA-A1-A0SB-10 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx medium 2.85 Y80C getma.org/?cm=msa&ty=f&p=ATS20_HUMAN&rb=40&re=186&var=Y80C getma.org/?cm=var&var=hg19,12,43944926,T,C&fts=all db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 p.Tyr80Cys p.Y80C ENST00000389420 2/39 0 0 ADAMTS20,missense_variant,p.Tyr80Cys,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Tyr80Cys,ENST00000553158,; C ENSG00000173157 ENST00000389420 Transcript missense_variant 239/6076 239/5733 80/1910 Y/C tAt/tGt COSM1476552,COSM1476551 1 ADAMTS20 HGNC 17178 protein_coding YES CCDS31778.2 ENSP00000374071 ATS20_HUMAN UPI00004565F4 NM_025003.3 deleterious(0) probably_damaging(1) 2/39 hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF01562 1,1 MODERATE 1 SNV 1,1 12 43944926 43944926 T C SNP ADAMTS20 ENST00000389420 human ensembl 69_37n -1 known missense c.239 p.Y80C 1000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS20 HGNC ENSG00000173157 50 0 0 19 17 45.95 - - - 12 43944926 43944926 T C SNP ADAMTS20 ENST00000389420 human ensembl 69_37n -1 known missense c.239 p.Y80C 1000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS20 HGNC - - - Unknown Class 4 Class annotation -CADM2 genome.wustl.edu GRCh37 3 85932472 85932472 1 Silent SNP C C T TCGA-A1-A0SB-02 TCGA-A1-A0SB-10 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 p.R81R ENST00000407528 3/10 0 0 CADM2,synonymous_variant,p.=,ENST00000383699,NM_001167675.1,NM_001256504.1,NM_001256505.1;CADM2,synonymous_variant,,ENST00000407528,NM_001167674.1;CADM2,synonymous_variant,p.=,ENST00000405615,NM_153184.3; T ENSG00000175161 ENST00000407528 Transcript synonymous_variant 305/1422 243/1308 81/435 R cgC/cgT COSM1178952,COSM1178953 1 CADM2 HGNC 29849 protein_coding CCDS54614.1 ENSP00000384575 CADM2_HUMAN G3XHN8_HUMAN UPI000006DE82 NM_001167674.1 3/10 PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726 1,1 LOW SNV 1,1 3 85932472 85932472 C T SNP CADM2 ENST00000405615 human ensembl 69_37n 1 known silent c.249 p.R83 920 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM2 HGNC ENSG00000175161 57 0 0 22 23 51.11 - - - 3 85932472 85932472 C T SNP CADM2 ENST00000405615 human ensembl 69_37n 1 known silent c.249 p.R83 920 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM2 HGNC - - - Putative_Driver Test driver Class 4 Class annotation -DTNB genome.wustl.edu GRCh37 2 25678299 25678299 -1 Missense_Mutation SNP C C T TCGA-A1-A0SB-01 TCGA-A1-A0SB-10 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx medium 2125 V382M getma.org/?cm=msa&ty=f&p=DTNB_HUMAN&rb=283&re=473&var=V382M getma.org/?cm=var&var=hg19,2,25678299,C,T&fts=all db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 c.1144C>A p.Val382Met p.V382M ENST00000406818 11/21 0 0 DTNB,missense_variant,p.Val382Met,ENST00000406818,NM_001256303.1,NM_021907.4;DTNB,missense_variant,p.Val382Met,ENST00000407661,NM_183360.2,NM_001256304.1;DTNB,missense_variant,p.Val382Met,ENST00000404103,NM_033147.3;DTNB,missense_variant,p.Val382Met,ENST00000288642,;DTNB,missense_variant,p.Val325Met,ENST00000496972,NM_001256308.1;DTNB,missense_variant,p.Val178Met,ENST00000545439,;DTNB,intron_variant,,ENST00000407038,NM_033148.3;DTNB,intron_variant,,ENST00000407186,;DTNB,intron_variant,,ENST00000405222,NM_183361.2;DTNB,intron_variant,,ENST00000489756,;DTNB,intron_variant,,ENST00000481841,;DTNB,intron_variant,,ENST00000486555,;DTNB,3_prime_UTR_variant,,ENST00000398951,;DTNB,non_coding_transcript_exon_variant,,ENST00000485845,;DTNB,non_coding_transcript_exon_variant,,ENST00000479898,;DTNB,intron_variant,,ENST00000356599,;DTNB,intron_variant,,ENST00000482145,; T ENSG00000138101 ENST00000406818 Transcript missense_variant 1394/2474 1144/1884 382/627 V/M Gtg/Atg COSM3839175,COSM3839176 1 DTNB HGNC 3058 protein_coding YES CCDS46237.1 ENSP00000384084 DTNB_HUMAN Q53TC8_HUMAN,Q53T51_HUMAN,Q53SF9_HUMAN,Q53QV1_HUMAN,F8W9U0_HUMAN,E9PE76_HUMAN,E7ES64_HUMAN UPI0000129949 NM_001256303.1,NM_021907.4 deleterious(0.03) benign(0.379) 11/21 hmmpanther:PTHR11915:SF227,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204 1,1 MODERATE 1 SNV 1,1 2 25678299 25678299 C T SNP DTNB ENST00000406818 human ensembl 69_37n -1 known missense c.1144 p.V382M 1000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC ENSG00000138101 35 0 0 9 9 50 - - - 2 25678299 25678299 C T SNP DTNB ENST00000406818 human ensembl 69_37n -1 known missense c.1144 p.V382M 1000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC - - - Putative_Passenger Test passenger Class 1 Class annotation -KAT2A genome.wustl.edu GRCh37 17 40272381 40272381 -1 Silent SNP G G A TCGA-A1-A0SB-02 TCGA-A1-A0SB-10 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 c.471C>T p.= p.H157H ENST00000225916 3/18 0 0 KAT2A,synonymous_variant,p.=,ENST00000225916,NM_021078.2;CTD-2132N18.3,synonymous_variant,p.=,ENST00000592574,;RAB5C,downstream_gene_variant,,ENST00000393860,NM_201434.2;RAB5C,downstream_gene_variant,,ENST00000346213,NM_004583.3;HSPB9,upstream_gene_variant,,ENST00000355067,NM_033194.2;CTD-2132N18.3,missense_variant,p.Thr150Met,ENST00000592248,;KAT2A,synonymous_variant,p.=,ENST00000465682,;CTD-2132N18.3,3_prime_UTR_variant,,ENST00000585562,;KAT2A,upstream_gene_variant,,ENST00000592310,;KAT2A,upstream_gene_variant,,ENST00000588759,; A ENSG00000108773 ENST00000225916 Transcript synonymous_variant 525/3109 471/2514 157/837 H caC/caT rs536716483,COSM1479581 1 KAT2A HGNC 4201 protein_coding YES CCDS11417.1 ENSP00000225916 KAT2A_HUMAN K7ERS6_HUMAN UPI000000D978 NM_021078.2 3/18 hmmpanther:PTHR22880:SF124,hmmpanther:PTHR22880,Pfam_domain:PF06466,PIRSF_domain:PIRSF003048 A:0.0002 A:0 A:0 A:0.001 A:0 A:0 0,1 LOW 1 SNV 0,1 17 40272381 40272381 G A SNP ENSG00000267261 ENST00000592248 human ensembl 69_37n -1 known missense c.449 p.T150M 486 smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors CTD-2132N18.3 Clone_based_vega_gene ENSG00000267261 40 0 0 30 36 54.55 - - - 17 40272381 40272381 G A SNP ENSG00000267261 ENST00000592248 human ensembl 69_37n -1 known missense c.449 p.T150M 486 smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors CTD-2132N18.3 Clone_based_vega_gene - - - Putative_Driver Test driver Class 1 Class annotation -MSH3 genome.wustl.edu GRCh37 5 80024722 80024722 1 Frame_Shift_Del DEL T T - TCGA-A1-A0SB-02 TCGA-A1-A0SB-10 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 c.1508delT p.Leu503TrpfsTer5 p.L503Wfs*5 ENST00000265081 10/24 0 0 MSH3,frameshift_variant,p.Leu503TrpfsTer5,ENST00000265081,NM_002439.4;MSH3,non_coding_transcript_exon_variant,,ENST00000512258,; - ENSG00000113318 ENST00000265081 Transcript frameshift_variant 1586/4092 1506/3414 502/1137 S/X tcT/tc 1 MSH3 HGNC 7326 protein_coding YES CCDS34195.1 ENSP00000265081 MSH3_HUMAN UPI0000DBEE85 NM_002439.4 10/24 Superfamily_domains:SSF53150,Gene3D:3.30.420.110,Pfam_domain:PF05188,hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF34 HIGH 1 deletion 2 5 80024722 80024722 T - DEL MSH3 ENST00000265081 human ensembl 69_37n 1 known frame_shift_del c.1506 p.L503fs 998 pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 83 0 0 12 2 14.29 - - - 5 80024722 80024722 T - DEL MSH3 ENST00000265081 human ensembl 69_37n 1 known frame_shift_del c.1506 p.L503fs 998 pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC - - - Putative_Passenger Test passenger Class 3 Class annotation -MYB genome.wustl.edu GRCh37 6 135507043 135507044 1 Frame_Shift_Ins INS - - A TCGA-A1-A0SB-02 TCGA-A1-A0SB-10 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 c.27dupA p.Tyr10IlefsTer2 p.Y10Ifs*2 ENST00000367814 2/15 0 0 MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000341911,NM_001130173.1,NM_001161658.1,NM_001161656.1;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000316528,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000442647,NM_001161660.1,NM_001130172.1;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000367814,NM_001161659.1,NM_005375.2;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000525369,NM_001161657.1;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000527615,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000528774,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000534121,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000533624,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000534044,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000420123,;MYB,upstream_gene_variant,,ENST00000430686,;MYB,non_coding_transcript_exon_variant,,ENST00000531845,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000367812,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000533837,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000438901,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000525477,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000463282,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000339290,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000533808,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000525514,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000529586,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000526889,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000526320,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000531519,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000533384,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000531737,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000529262,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000526565,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000528015,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000526187,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000525002,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000528343,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000528140,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000528345,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000525940,;MYB,frameshift_variant,p.Tyr10Ter,ENST00000531634,;MYB,frameshift_variant,p.Tyr10IlefsTer2,ENST00000524588,; A ENSG00000118513 ENST00000367814 Transcript frameshift_variant 212-213/3302 26-27/1923 9/640 I/IX ata/atAa COSM1487247,COSM1487248 1 MYB HGNC 7545 protein_coding CCDS5174.1 ENSP00000356788 MYB_HUMAN Q9UMI7_HUMAN,Q708J0_HUMAN,Q708E9_HUMAN,Q708E3_HUMAN UPI000012FAEA NM_001161659.1,NM_005375.2 2/15 hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF454 1,1 HIGH insertion 1 1,1 6 135507043 135507044 - A INS MYB ENST00000341911 human ensembl 69_37n 1 known frame_shift_ins c.26_27 p.Y10fs 1.000:0.997 pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 50 0 0 36 4 10 - - - 6 135507043 135507044 - A INS MYB ENST00000341911 human ensembl 69_37n 1 known frame_shift_ins c.26_27 p.Y10fs 1.000:0.997 pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC - - - Putative_Passenger Test passenger -PIEZO1 genome.wustl.edu GRCh37 16 88790292 88790292 -1 Missense_Mutation SNP T T C TCGA-A1-A0SB-02 TCGA-A1-A0SB-10 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx low 1.18 Q1441R getma.org/?cm=msa&ty=f&p=PIEZ1_HUMAN&rb=58&re=1627&var=Q1441R getma.org/?cm=var&var=hg19,16,88790292,T,C&fts=all db9d40fb-bfce-4c3b-a6c2-41c5c88982f1 a3254f8e-3bbd-42fc-abea-a5f25b7648b3 c.4322A>G p.Gln1441Arg p.Q1441R ENST00000301015 31/51 0 0 PIEZO1,missense_variant,p.Gln1441Arg,ENST00000301015,NM_001142864.2;PIEZO1,missense_variant,p.Gln115Arg,ENST00000474606,;PIEZO1,upstream_gene_variant,,ENST00000327397,;PIEZO1,upstream_gene_variant,,ENST00000466823,;RP5-1142A6.9,downstream_gene_variant,,ENST00000564984,;PIEZO1,non_coding_transcript_exon_variant,,ENST00000566414,;PIEZO1,upstream_gene_variant,,ENST00000419505,;PIEZO1,upstream_gene_variant,,ENST00000497793,;PIEZO1,upstream_gene_variant,,ENST00000495568,;PIEZO1,downstream_gene_variant,,ENST00000475586,;PIEZO1,downstream_gene_variant,,ENST00000491917,; C ENSG00000103335 ENST00000301015 Transcript missense_variant 4569/8072 4322/7566 1441/2521 Q/R cAg/cGg COSM1479166 1 PIEZO1 HGNC 28993 protein_coding YES CCDS54058.1 ENSP00000301015 PIEZ1_HUMAN UPI0001B300F3 NM_001142864.2 tolerated(0.25) possibly_damaging(0.78) 31/51 hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF40 1 MODERATE 1 SNV 1 16 88790292 88790292 T C SNP PIEZO1 ENST00000301015 human ensembl 69_37n -1 novel missense c.4322 p.Q1441R 1000 pfam_DUF3595 - no_errors PIEZO1 HGNC ENSG00000103335 37 0 0 20 8 28.57 - - - 16 88790292 88790292 T C SNP PIEZO1 ENST00000301015 human ensembl 69_37n -1 novel missense c.4322 p.Q1441R 1000 pfam_DUF3595 - no_errors PIEZO1 HGNC - - - Putative_Passenger Test passenger Class 3 Class annotation -TP53 genome.wustl.edu GRCh37 17 7578253 7578253 0 Missense_Mutation SNP C C A TCGA-A1-A0SB-01 TCGA-A1-A0SB-10 A C Unknown Germline Phase_IV Capture 1 dbGAP IlluminaGAIIx medium 3.005 getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=G199V getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=G199V getma.org/?cm=var&var=hg19,17,7578253,C,A&fts=all ENST00000269305.4:c.596G>T p.Gly199Val p.G199V ENST00000269305 11-Jun 0 0 TP53,missense_variant,p.Gly199Val,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Gly199Val,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Gly199Val,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Gly199Val,ENST00000445888,;TP53,missense_variant,p.Gly199Val,ENST00000359597,;TP53,missense_variant,p.Gly199Val,ENST00000413465,;TP53,missense_variant,p.Gly67Val,ENST00000509690,;TP53,missense_variant,p.Gly106Val,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,; A ENSG00000141510 ENST00000269305 Transcript missense_variant 786/2579 596/1182 199 G/V gGa/gTa TP53_g.12665G>T,COSM44140,COSM255788,COSM255787,COSM255789,COSM3675525,COSM3675524,COSM255790 1 TP53 HGNC 11998 protein_coding YES CCDS11118.1 ENSP00000269305 P53_HUMAN S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN UPI000002ED67 NM_001126112.2 deleterious(0) probably_damaging(1) 11-Jun Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417 0,1,1,1,1,1,1,1 MODERATE 1 SNV 0,1,1,1,1,1,1,1 17 7578253 7578253 C A SNP TP53 NM_000546.4 human genbank 58_37c -1 reviewed missense c.596 p.G199V 1 HMMPfam_P53|7Csuperfamily_p53-like transcription factors HMMPfam_P53_TAD|7CHMMPfam_P53|7Csuperfamily_p53-like transcription factors|7CPatternScan_P53|7CHMMPfam_P53_tetramer|7Csuperfamily_p53 tetramerization domain - 17 7578253 7578253 C A SNP TP53 NM_000546.4 human genbank 58_37c -1 reviewed missense c.596 p.G199V 1 HMMPfam_P53|7Csuperfamily_p53-like transcription factors HMMPfam_P53_TAD|7CHMMPfam_P53|7Csuperfamily_p53-like transcription factors|7CPatternScan_P53|7CHMMPfam_P53_tetramer|7Csuperfamily_p53 tetramerization domain - -TP53 genome.wustl.edu GRCh37 17 7576851 7576851 0 Splice_Site SNP A A C novel unknown TCGA-A1-A0SB-01 TCGA-A1-A0SB-10 A A Unknown Somatic Phase_IV Capture 1 dbGAP Illumina GAIIx ENST00000269305.4:c.993+2T>G p.X331_splice ENST00000269305 0 0 TP53,splice_donor_variant,,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,splice_donor_variant,,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,splice_donor_variant,,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,splice_donor_variant,,ENST00000445888,;TP53,splice_donor_variant,,ENST00000359597,;TP53,splice_donor_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000509690,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,downstream_gene_variant,,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000574684,;TP53,splice_donor_variant,,ENST00000510385,;TP53,splice_donor_variant,,ENST00000504290,;TP53,splice_donor_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,; C ENSG00000141510 ENST00000269305 Transcript splice_donor_variant -/2579 993/1182 TP53_g.14067T>G,COSM29774,COSM146229 1 TP53 HGNC 11998 protein_coding YES CCDS11118.1 ENSP00000269305 P53_HUMAN S5LQU8_HUMAN,Q761V2_HUMAN,Q6IT77_HUMAN,Q1HGV1_HUMAN,Q0PKT5_HUMAN,L0ES54_HUMAN,L0EQ05_HUMAN,K7PPA8_HUMAN,H2EHT1_HUMAN,G4Y083_HUMAN,E9PCY9_HUMAN,E7ESS1_HUMAN,E7EMR6_HUMAN,B5AKF6_HUMAN,B4DNI2_HUMAN,A4GWD0_HUMAN,A4GWB8_HUMAN,A4GWB5_HUMAN,A4GW97_HUMAN,A4GW76_HUMAN,A4GW75_HUMAN,A4GW74_HUMAN,A4GW67_HUMAN,A2I9Z1_HUMAN,A2I9Z0_HUMAN UPI000002ED67 NM_001126112.2 10-Sep 0,1,1 HIGH 1 SNV 0,1,1 17 7576851 7576851 A C SNP TP53 NM_000546 human genbank 57_37b -1 reviewed splice_site c.993+2 e8+2 1 - - - 17 7576851 7576851 A C SNP TP53 NM_000546 human genbank 57_37b -1 reviewed splice_site c.993+2 e8+2 1 - - - -BRCA1 genome.wustl.edu GRCh37 17 41243581 41243581 0 Nonsense_Mutation SNP G G A rs80357262 TCGA-A1-A0SB-01 TCGA-A1-A0SB-10 A G Unknown Germline Phase_IV Capture 1 dbGAP IlluminaGAIIx 0 getma.org/?cm=var&var=hg19,17,41243581,G,A&fts=all ENST00000357654.3:c.3967C>T p.Gln1323Ter p.Q1323* ENST00000357654 23-Oct 0 0 BRCA1,stop_gained,p.Gln1027Ter,ENST00000309486,NM_007297.3;BRCA1,stop_gained,p.Gln1323Ter,ENST00000357654,NM_007294.3;BRCA1,stop_gained,p.Gln1323Ter,ENST00000346315,;BRCA1,stop_gained,p.Gln1323Ter,ENST00000354071,;BRCA1,stop_gained,p.Gln1323Ter,ENST00000471181,NM_007300.3;BRCA1,stop_gained,p.Gln1276Ter,ENST00000493795,;BRCA1,stop_gained,p.Gln88Ter,ENST00000461574,;BRCA1,intron_variant,,ENST00000352993,;BRCA1,intron_variant,,ENST00000351666,;BRCA1,intron_variant,,ENST00000468300,NM_007299.3;BRCA1,intron_variant,,ENST00000491747,NM_007298.3;BRCA1,intron_variant,,ENST00000478531,;BRCA1,intron_variant,,ENST00000493919,;BRCA1,intron_variant,,ENST00000484087,;BRCA1,intron_variant,,ENST00000591534,;BRCA1,intron_variant,,ENST00000487825,;BRCA1,intron_variant,,ENST00000586385,;BRCA1,intron_variant,,ENST00000591849,;BRCA1,downstream_gene_variant,,ENST00000470026,;BRCA1,downstream_gene_variant,,ENST00000477152,;BRCA1,downstream_gene_variant,,ENST00000494123,;BRCA1,downstream_gene_variant,,ENST00000473961,;BRCA1,downstream_gene_variant,,ENST00000497488,;BRCA1,downstream_gene_variant,,ENST00000476777,;BRCA1,3_prime_UTR_variant,,ENST00000461221,;BRCA1,non_coding_transcript_exon_variant,,ENST00000467274,;BRCA1,downstream_gene_variant,,ENST00000492859,;BRCA1,downstream_gene_variant,,ENST00000412061,; A ENSG00000012048 ENST00000357654 Transcript stop_gained 4086/7094 3967/5592 1323 Q/* Caa/Taa rs80357262 1 BRCA1 HGNC 1100 protein_coding CCDS11453.1 ENSP00000350283 BRCA1_HUMAN Q9UE29_HUMAN,Q9NQR3_HUMAN,Q92897_HUMAN,Q7KYU6_HUMAN,Q4EW25_HUMAN,Q3YB53_HUMAN,Q3YB50_HUMAN,Q3YB49_HUMAN,Q3LRH8_HUMAN,Q3B891_HUMAN,K7EPC7_HUMAN,K4K7V3_HUMAN,K4JXS7_HUMAN,K4JUB1_HUMAN,G4V503_HUMAN,G4V502_HUMAN,G4V500_HUMAN,G4V4Z8_HUMAN,G4V4Z7_HUMAN,G1UI37_HUMAN,E9PFZ0_HUMAN,E7EWN5_HUMAN,E7EP70_HUMAN,C9IZW4_HUMAN,C4PFY7_HUMAN UPI0000126AC8 NM_007294.3 23-Oct PIRSF_domain:PIRSF001734,hmmpanther:PTHR13763,hmmpanther:PTHR13763:SF0 not_provided,pathogenic HIGH SNV 1 17 41243581 41243581 G A SNP BRCA1 NM_007294.3 human genbank 58_37c -1 reviewed nonsense c.3967 p.Q1323* 0.949 HMMPfam_BRCT|7CHMMSmart_SM00292|7Csuperfamily_BRCT domain|7CHMMSmart_SM00184|7CPatternScan_ZF_RING_1|7CHMMPfam_zf-C3HC4|7Csuperfamily_RING/U-box - 17 41243581 41243581 G A SNP BRCA1 NM_007294.3 human genbank 58_37c -1 reviewed nonsense c.3967 p.Q1323* 0.949 HMMPfam_BRCT|7CHMMSmart_SM00292|7Csuperfamily_BRCT domain|7CHMMSmart_SM00184|7CPatternScan_ZF_RING_1|7CHMMPfam_zf-C3HC4|7Csuperfamily_RING/U-box - -BRCA1 genome.wustl.edu GRCh37 17 41243581 41243581 0 Missense_Mutation SNP G G A rs80357262 TEST_SAMPLE_SOMATIC_HOMOZYGOUS TCGA-A1-A0SB-10 A G Unknown Somatic Phase_IV Capture 1 dbGAP IlluminaGAIIx 0 getma.org/?cm=var&var=hg19,17,41243581,G,A&fts=all ENST00000357654.3:c.3967C>T p.Ser1436Ser p.S1436S ENST00000357654 23-Oct 0 0 BRCA1,stop_gained,p.Gln1027Ter,ENST00000309486,NM_007297.3;BRCA1,stop_gained,p.Gln1323Ter,ENST00000357654,NM_007294.3;BRCA1,stop_gained,p.Gln1323Ter,ENST00000346315,;BRCA1,stop_gained,p.Gln1323Ter,ENST00000354071,;BRCA1,stop_gained,p.Gln1323Ter,ENST00000471181,NM_007300.3;BRCA1,stop_gained,p.Gln1276Ter,ENST00000493795,;BRCA1,stop_gained,p.Gln88Ter,ENST00000461574,;BRCA1,intron_variant,,ENST00000352993,;BRCA1,intron_variant,,ENST00000351666,;BRCA1,intron_variant,,ENST00000468300,NM_007299.3;BRCA1,intron_variant,,ENST00000491747,NM_007298.3;BRCA1,intron_variant,,ENST00000478531,;BRCA1,intron_variant,,ENST00000493919,;BRCA1,intron_variant,,ENST00000484087,;BRCA1,intron_variant,,ENST00000591534,;BRCA1,intron_variant,,ENST00000487825,;BRCA1,intron_variant,,ENST00000586385,;BRCA1,intron_variant,,ENST00000591849,;BRCA1,downstream_gene_variant,,ENST00000470026,;BRCA1,downstream_gene_variant,,ENST00000477152,;BRCA1,downstream_gene_variant,,ENST00000494123,;BRCA1,downstream_gene_variant,,ENST00000473961,;BRCA1,downstream_gene_variant,,ENST00000497488,;BRCA1,downstream_gene_variant,,ENST00000476777,;BRCA1,3_prime_UTR_variant,,ENST00000461221,;BRCA1,non_coding_transcript_exon_variant,,ENST00000467274,;BRCA1,downstream_gene_variant,,ENST00000492859,;BRCA1,downstream_gene_variant,,ENST00000412061,; A ENSG00000012048 ENST00000357654 Transcript stop_gained 4086/7094 3967/5592 1323 Q/* Caa/Taa rs80357262 1 BRCA1 HGNC 1100 protein_coding CCDS11453.1 ENSP00000350283 BRCA1_HUMAN Q9UE29_HUMAN,Q9NQR3_HUMAN,Q92897_HUMAN,Q7KYU6_HUMAN,Q4EW25_HUMAN,Q3YB53_HUMAN,Q3YB50_HUMAN,Q3YB49_HUMAN,Q3LRH8_HUMAN,Q3B891_HUMAN,K7EPC7_HUMAN,K4K7V3_HUMAN,K4JXS7_HUMAN,K4JUB1_HUMAN,G4V503_HUMAN,G4V502_HUMAN,G4V500_HUMAN,G4V4Z8_HUMAN,G4V4Z7_HUMAN,G1UI37_HUMAN,E9PFZ0_HUMAN,E7EWN5_HUMAN,E7EP70_HUMAN,C9IZW4_HUMAN,C4PFY7_HUMAN UPI0000126AC8 NM_007294.3 23-Oct PIRSF_domain:PIRSF001734,hmmpanther:PTHR13763,hmmpanther:PTHR13763:SF0 not_provided,pathogenic HIGH SNV 1 17 41243581 41243581 G A SNP BRCA1 NM_007294.3 human genbank 58_37c -1 reviewed nonsense c.3967 p.Q1323* 0.949 HMMPfam_BRCT|7CHMMSmart_SM00292|7Csuperfamily_BRCT domain|7CHMMSmart_SM00184|7CPatternScan_ZF_RING_1|7CHMMPfam_zf-C3HC4|7Csuperfamily_RING/U-box - 17 41243581 41243581 G A SNP BRCA1 NM_007294.3 human genbank 58_37c -1 reviewed nonsense c.3967 p.Q1323* 0.949 HMMPfam_BRCT|7CHMMSmart_SM00292|7Csuperfamily_BRCT domain|7CHMMSmart_SM00184|7CPatternScan_ZF_RING_1|7CHMMPfam_zf-C3HC4|7Csuperfamily_RING/U-box - Putative_Driver Test driver Class 1 Class annotation Homozygous 2 -BRCA1 genome.wustl.edu GRCh37 17 41243581 41243581 0 Missense_Mutation SNP G G A rs80357262 TEST_SAMPLE_SOMATIC_HETEROZYGOUS TCGA-A1-A0SB-10 A G Unknown Somatic Phase_IV Capture 1 dbGAP IlluminaGAIIx 0 getma.org/?cm=var&var=hg19,17,41243581,G,A&fts=all ENST00000357654.3:c.3967C>T p.Ser694Ser p.S694S ENST00000357654 23-Oct 0 0 BRCA1,stop_gained,p.Gln1027Ter,ENST00000309486,NM_007297.3;BRCA1,stop_gained,p.Gln1323Ter,ENST00000357654,NM_007294.3;BRCA1,stop_gained,p.Gln1323Ter,ENST00000346315,;BRCA1,stop_gained,p.Gln1323Ter,ENST00000354071,;BRCA1,stop_gained,p.Gln1323Ter,ENST00000471181,NM_007300.3;BRCA1,stop_gained,p.Gln1276Ter,ENST00000493795,;BRCA1,stop_gained,p.Gln88Ter,ENST00000461574,;BRCA1,intron_variant,,ENST00000352993,;BRCA1,intron_variant,,ENST00000351666,;BRCA1,intron_variant,,ENST00000468300,NM_007299.3;BRCA1,intron_variant,,ENST00000491747,NM_007298.3;BRCA1,intron_variant,,ENST00000478531,;BRCA1,intron_variant,,ENST00000493919,;BRCA1,intron_variant,,ENST00000484087,;BRCA1,intron_variant,,ENST00000591534,;BRCA1,intron_variant,,ENST00000487825,;BRCA1,intron_variant,,ENST00000586385,;BRCA1,intron_variant,,ENST00000591849,;BRCA1,downstream_gene_variant,,ENST00000470026,;BRCA1,downstream_gene_variant,,ENST00000477152,;BRCA1,downstream_gene_variant,,ENST00000494123,;BRCA1,downstream_gene_variant,,ENST00000473961,;BRCA1,downstream_gene_variant,,ENST00000497488,;BRCA1,downstream_gene_variant,,ENST00000476777,;BRCA1,3_prime_UTR_variant,,ENST00000461221,;BRCA1,non_coding_transcript_exon_variant,,ENST00000467274,;BRCA1,downstream_gene_variant,,ENST00000492859,;BRCA1,downstream_gene_variant,,ENST00000412061,; A ENSG00000012048 ENST00000357654 Transcript stop_gained 4086/7094 3967/5592 1323 Q/* Caa/Taa rs80357262 1 BRCA1 HGNC 1100 protein_coding CCDS11453.1 ENSP00000350283 BRCA1_HUMAN Q9UE29_HUMAN,Q9NQR3_HUMAN,Q92897_HUMAN,Q7KYU6_HUMAN,Q4EW25_HUMAN,Q3YB53_HUMAN,Q3YB50_HUMAN,Q3YB49_HUMAN,Q3LRH8_HUMAN,Q3B891_HUMAN,K7EPC7_HUMAN,K4K7V3_HUMAN,K4JXS7_HUMAN,K4JUB1_HUMAN,G4V503_HUMAN,G4V502_HUMAN,G4V500_HUMAN,G4V4Z8_HUMAN,G4V4Z7_HUMAN,G1UI37_HUMAN,E9PFZ0_HUMAN,E7EWN5_HUMAN,E7EP70_HUMAN,C9IZW4_HUMAN,C4PFY7_HUMAN UPI0000126AC8 NM_007294.3 23-Oct PIRSF_domain:PIRSF001734,hmmpanther:PTHR13763,hmmpanther:PTHR13763:SF0 not_provided,pathogenic HIGH SNV 1 17 41243581 41243581 G A SNP BRCA1 NM_007294.3 human genbank 58_37c -1 reviewed nonsense c.3967 p.Q1323* 0.949 HMMPfam_BRCT|7CHMMSmart_SM00292|7Csuperfamily_BRCT domain|7CHMMSmart_SM00184|7CPatternScan_ZF_RING_1|7CHMMPfam_zf-C3HC4|7Csuperfamily_RING/U-box - 17 41243581 41243581 G A SNP BRCA1 NM_007294.3 human genbank 58_37c -1 reviewed nonsense c.3967 p.Q1323* 0.949 HMMPfam_BRCT|7CHMMSmart_SM00292|7Csuperfamily_BRCT domain|7CHMMSmart_SM00184|7CPatternScan_ZF_RING_1|7CHMMPfam_zf-C3HC4|7Csuperfamily_RING/U-box - Putative_Passenger Test passenger Class 1 Class annotation Heterozygous 1 -BRCA1 genome.wustl.edu GRCh37 17 41243581 41243581 0 Missense_Mutation SNP G G A rs80357262 TEST_SAMPLE_SOMATIC_UNDEFINED TCGA-A1-A0SB-10 A G Unknown Somatic Phase_IV Capture 1 dbGAP IlluminaGAIIx 0 getma.org/?cm=var&var=hg19,17,41243581,G,A&fts=all ENST00000357654.3:c.3967C>T p.Pro871Gln p.P871Q ENST00000357654 23-Oct 0 0 BRCA1,stop_gained,p.Gln1027Ter,ENST00000309486,NM_007297.3;BRCA1,stop_gained,p.Gln1323Ter,ENST00000357654,NM_007294.3;BRCA1,stop_gained,p.Gln1323Ter,ENST00000346315,;BRCA1,stop_gained,p.Gln1323Ter,ENST00000354071,;BRCA1,stop_gained,p.Gln1323Ter,ENST00000471181,NM_007300.3;BRCA1,stop_gained,p.Gln1276Ter,ENST00000493795,;BRCA1,stop_gained,p.Gln88Ter,ENST00000461574,;BRCA1,intron_variant,,ENST00000352993,;BRCA1,intron_variant,,ENST00000351666,;BRCA1,intron_variant,,ENST00000468300,NM_007299.3;BRCA1,intron_variant,,ENST00000491747,NM_007298.3;BRCA1,intron_variant,,ENST00000478531,;BRCA1,intron_variant,,ENST00000493919,;BRCA1,intron_variant,,ENST00000484087,;BRCA1,intron_variant,,ENST00000591534,;BRCA1,intron_variant,,ENST00000487825,;BRCA1,intron_variant,,ENST00000586385,;BRCA1,intron_variant,,ENST00000591849,;BRCA1,downstream_gene_variant,,ENST00000470026,;BRCA1,downstream_gene_variant,,ENST00000477152,;BRCA1,downstream_gene_variant,,ENST00000494123,;BRCA1,downstream_gene_variant,,ENST00000473961,;BRCA1,downstream_gene_variant,,ENST00000497488,;BRCA1,downstream_gene_variant,,ENST00000476777,;BRCA1,3_prime_UTR_variant,,ENST00000461221,;BRCA1,non_coding_transcript_exon_variant,,ENST00000467274,;BRCA1,downstream_gene_variant,,ENST00000492859,;BRCA1,downstream_gene_variant,,ENST00000412061,; A ENSG00000012048 ENST00000357654 Transcript stop_gained 4086/7094 3967/5592 1323 Q/* Caa/Taa rs80357262 1 BRCA1 HGNC 1100 protein_coding CCDS11453.1 ENSP00000350283 BRCA1_HUMAN Q9UE29_HUMAN,Q9NQR3_HUMAN,Q92897_HUMAN,Q7KYU6_HUMAN,Q4EW25_HUMAN,Q3YB53_HUMAN,Q3YB50_HUMAN,Q3YB49_HUMAN,Q3LRH8_HUMAN,Q3B891_HUMAN,K7EPC7_HUMAN,K4K7V3_HUMAN,K4JXS7_HUMAN,K4JUB1_HUMAN,G4V503_HUMAN,G4V502_HUMAN,G4V500_HUMAN,G4V4Z8_HUMAN,G4V4Z7_HUMAN,G1UI37_HUMAN,E9PFZ0_HUMAN,E7EWN5_HUMAN,E7EP70_HUMAN,C9IZW4_HUMAN,C4PFY7_HUMAN UPI0000126AC8 NM_007294.3 23-Oct PIRSF_domain:PIRSF001734,hmmpanther:PTHR13763,hmmpanther:PTHR13763:SF0 not_provided,pathogenic HIGH SNV 1 17 41243581 41243581 G A SNP BRCA1 NM_007294.3 human genbank 58_37c -1 reviewed nonsense c.3967 p.Q1323* 0.949 HMMPfam_BRCT|7CHMMSmart_SM00292|7Csuperfamily_BRCT domain|7CHMMSmart_SM00184|7CPatternScan_ZF_RING_1|7CHMMPfam_zf-C3HC4|7Csuperfamily_RING/U-box - 17 41243581 41243581 G A SNP BRCA1 NM_007294.3 human genbank 58_37c -1 reviewed nonsense c.3967 p.Q1323* 0.949 HMMPfam_BRCT|7CHMMSmart_SM00292|7Csuperfamily_BRCT domain|7CHMMSmart_SM00184|7CPatternScan_ZF_RING_1|7CHMMPfam_zf-C3HC4|7Csuperfamily_RING/U-box - Putative_Driver Test driver Class 1 Class annotation -BRCA1 genome.wustl.edu GRCh37 17 41201181 41201181 0 Missense_Mutation SNP C C A rs80357069 byCluster TCGA-A1-A0SB-01 TCGA-A1-A0SB-10 C C Unknown Somatic Phase_IV Capture 1 dbGAP Illumina GAIIx medium 2.25 getma.org/?cm=msa&ty=f&p=BRCA1_HUMAN&rb=1756&re=1842&var=G1788V getma.org/pdb.php?prot=BRCA1_HUMAN&from=1756&to=1842&var=G1788V getma.org/?cm=var&var=hg19,17,41201181,C,A&fts=all ENST00000357654.3:c.5363G>T p.Gly1788Val p.G1788V ENST00000357654 21/23 0 0 BRCA1,missense_variant,p.Gly1492Val,ENST00000309486,NM_007297.3;BRCA1,missense_variant,p.Gly1788Val,ENST00000357654,NM_007294.3;BRCA1,missense_variant,p.Gly1549Val,ENST00000346315,;BRCA1,missense_variant,p.Gly1523Val,ENST00000354071,;BRCA1,missense_variant,p.Gly1809Val,ENST00000471181,NM_007300.3;BRCA1,missense_variant,p.Gly1741Val,ENST00000493795,;BRCA1,missense_variant,p.Gly646Val,ENST00000352993,;BRCA1,missense_variant,p.Gly605Val,ENST00000351666,;BRCA1,missense_variant,p.Gly684Val,ENST00000491747,NM_007298.3;BRCA1,missense_variant,p.Gly279Val,ENST00000591534,;BRCA1,missense_variant,p.Gly98Val,ENST00000586385,;BRCA1,missense_variant,p.Gly21Val,ENST00000591849,;BRCA1,intron_variant,,ENST00000468300,NM_007299.3;BRCA1,3_prime_UTR_variant,,ENST00000461221,; A ENSG00000012048 ENST00000357654 Transcript missense_variant 5482/7094 5363/5592 1788 G/V gGt/gTt rs80357069,COSM436662 1 BRCA1 HGNC 1100 protein_coding CCDS11453.1 ENSP00000350283 BRCA1_HUMAN Q9UE29_HUMAN,Q9NQR3_HUMAN,Q92897_HUMAN,Q7KYU6_HUMAN,Q4EW25_HUMAN,Q3YB53_HUMAN,Q3YB50_HUMAN,Q3YB49_HUMAN,Q3LRH8_HUMAN,Q3B891_HUMAN,K7EPC7_HUMAN,K4K7V3_HUMAN,K4JXS7_HUMAN,K4JUB1_HUMAN,G4V503_HUMAN,G4V502_HUMAN,G4V500_HUMAN,G4V4Z8_HUMAN,G4V4Z7_HUMAN,G1UI37_HUMAN,E9PFZ0_HUMAN,E7EWN5_HUMAN,E7EP70_HUMAN,C9IZW4_HUMAN,C4PFY7_HUMAN UPI0000126AC8 NM_007294.3 deleterious(0) benign(0.031) 21/23 Gene3D:3.40.50.10190,Pfam_domain:PF00533,PIRSF_domain:PIRSF001734,Prints_domain:PR00493,PROSITE_profiles:PS50172,hmmpanther:PTHR13763,hmmpanther:PTHR13763:SF0,SMART_domains:SM00292,Superfamily_domains:SSF52113 not_provided,pathogenic 0,1 MODERATE SNV 1,1 17 41201181 41201181 C A SNP BRCA1 NM_007294 human genbank 57_37b -1 reviewed missense c.5363 p.G1788V 1 HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain - 17 41201181 41201181 C A SNP BRCA1 NM_007294 human genbank 57_37b -1 reviewed missense c.5363 p.G1788V 1 HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain - -ATM genome.wustl.edu GRCh37 11 108173702 108173702 0 Frame_Shift_Del DEL G G - TCGA-A1-A0SB-01 TCGA-A1-A0SB-10 - G Unknown Germline Phase_IV Capture 1 dbGAP IlluminaGAIIx ENST00000278616.4:c.5443delG p.Asp1815ThrfsTer13 p.D1815Tfs*13 ENST00000278616 36/63 0 0 ATM,frameshift_variant,p.Asp1815ThrfsTer13,ENST00000278616,NM_000051.3;ATM,frameshift_variant,p.Asp1815ThrfsTer13,ENST00000452508,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000533690,;ATM,non_coding_transcript_exon_variant,,ENST00000534625,;ATM,upstream_gene_variant,,ENST00000529588,; - ENSG00000149311 ENST00000278616 Transcript frameshift_variant 5827/13147 5442/9171 1814 L/X ttG/tt rs772138812 1 ATM HGNC 795 protein_coding YES CCDS31669.1 ENSP00000278616 ATM_HUMAN M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN UPI0000DBEF44 NM_000051.3 36/63 hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66 HIGH 1 deletion 1 11 108173702 108173702 G - DEL ATM NM_000051.3 human genbank 58_37c 1 reviewed frame_shift_del c.5442 p.D1815fs 1 superfamily_ARM repeat superfamily_ARM repeat|7CHMMPfam_FAT|7Csuperfamily_Protein kinase-like (PK-like)|7CHMMPfam_PI3_PI4_kinase|7CHMMSmart_SM00146|7CPatternScan_PI3_4_KINASE_1|7CPatternScan_PI3_4_KINASE_2|7CHMMPfam_FATC - 11 108173702 108173702 G - DEL ATM NM_000051.3 human genbank 58_37c 1 reviewed frame_shift_del c.5442 p.D1815fs 1 superfamily_ARM repeat superfamily_ARM repeat|7CHMMPfam_FAT|7Csuperfamily_Protein kinase-like (PK-like)|7CHMMPfam_PI3_PI4_kinase|7CHMMSmart_SM00146|7CPatternScan_PI3_4_KINASE_1|7CPatternScan_PI3_4_KINASE_2|7CHMMPfam_FATC - -ATM genome.wustl.edu GRCh37 11 108106472 108106472 0 Frame_Shift_Del DEL T T - novel unknown TCGA-A1-A0SB-01 TCGA-A1-A0SB-10 T T Unknown Somatic Phase_IV Capture 1 dbGAP Illumina GAIIx ENST00000278616.4:c.409delT p.Tyr137ThrfsTer16 p.Y137Tfs*16 ENST00000278616 May-63 0 0 ATM,frameshift_variant,p.Tyr137ThrfsTer16,ENST00000278616,NM_000051.3;ATM,frameshift_variant,p.Tyr137ThrfsTer16,ENST00000452508,;ATM,frameshift_variant,p.Tyr137ThrfsTer16,ENST00000527805,;ATM,intron_variant,,ENST00000527891,;ATM,downstream_gene_variant,,ENST00000601453,;ATM,non_coding_transcript_exon_variant,,ENST00000530958,; - ENSG00000149311 ENST00000278616 Transcript frameshift_variant 792/13147 407/9171 136 I/X aTt/at COSM428356,COSM1474979 1 ATM HGNC 795 protein_coding YES CCDS31669.1 ENSP00000278616 ATM_HUMAN M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN UPI0000DBEF44 NM_000051.3 May-63 Pfam_domain:PF11640,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66 1,1 HIGH 1 deletion 2 1,1 11 108106472 108106472 T - DEL ATM NM_000051 human genbank 57_37b 1 reviewed frame_shift_del c.407 p.Y137fs 0.013 superfamily_ARM repeat,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC (deletion:cds_exon[108106397,108106561]) 11 108106472 108106472 T - DEL ATM NM_000051 human genbank 57_37b 1 reviewed frame_shift_del c.407 p.Y137fs 0.013 superfamily_ARM repeat,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC (deletion:cds_exon[108106397,108106561]) -BRCA2 genome.wustl.edu GRCh37 13 108106473 108106473 0 Nonsense_Mutation SNP T T C TCGA-A1-A0SB-01 TCGA-A1-A0SB-10 Germline p.D191G BRCA2_HUMAN -BRCA2 genome.wustl.edu GRCh37 13 108106474 108106474 0 Nonsense_Mutation SNP T T C TCGA-A2-A04P-01 TCGA-A2-A04P-10 Somatic p.D191G BRCA2_HUMAN -BRCA2 genome.wustl.edu GRCh37 13 108106475 108106475 0 In_Frame_Del DEL T T - TCGA-A1-A0SK-01 TCGA-A1-A0SK-10 Germline p.R2659T BRCA2_HUMAN -BRCA2 genome.wustl.edu GRCh37 13 108106476 108106476 0 In_Frame_Del DEL T T - TCGA-A2-A0CM-01 TCGA-A2-A0CM-10 Somatic p.R2659T BRCA2_HUMAN -BRCA2 genome.wustl.edu GRCh37 13 108106477 108106477 0 Missense_Mutation SNP T T C TCGA-AR-A1AR-01 TCGA-AR-A1AR-10 Germline p.R2336C BRCA2_HUMAN -BRCA2 genome.wustl.edu GRCh37 13 108106478 108106478 0 Missense_Mutation SNP T T C TCGA-B6-A0WX-01 TCGA-B6-A0WX-10 Somatic p.R2336C BRCA2_HUMAN -BRCA2 genome.wustl.edu GRCh37 13 108106479 108106479 0 Nonsense_Mutation SNP T T C TCGA-BH-A1F0-01 TCGA-BH-A1F0-10 Germline p.R2000T BRCA2_HUMAN -BRCA2 genome.wustl.edu GRCh37 13 108106480 108106480 0 Nonsense_Mutation SNP T T C TCGA-B6-A0I6-01 TCGA-B6-A0I6-10 Somatic p.R2000T BRCA2_HUMAN -BRCA2 genome.wustl.edu GRCh37 13 108106481 108106481 0 In_Frame_Del DEL T T - TCGA-BH-A18V-01 TCGA-BH-A18V-10 Germline p.V1270del BRCA2_HUMAN -BRCA2 genome.wustl.edu GRCh37 13 108106482 108106482 0 In_Frame_Del DEL T T - TCGA-BH-A18K-01 TCGA-BH-A18K-10 Somatic p.V1270del BRCA2_HUMAN -BRCA2 genome.wustl.edu GRCh37 13 108106483 108106483 0 Missense_Mutation SNP T T C TCGA-BH-A0HL-01 TCGA-BH-A0HL-10 Germline p.D3073G BRCA2_HUMAN -BRCA2 genome.wustl.edu GRCh37 13 108106484 108106484 0 Missense_Mutation SNP T T C TCGA-BH-A0E0-01 TCGA-BH-A0E0-10 Somatic p.D3073G BRCA2_HUMAN -ACP3 genome.wustl.edu GRCh37 3 132047117 132047117 0 Missense_Mutation SNP C C T TEST_SAMPLE_1 Somatic NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000336375.5:c.127C>T p.Arg43Trp p.R43W ENST00000336375 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPAP_HUMAN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -ACP3 genome.wustl.edu GRCh37 3 132047117 132047117 0 Missense_Mutation SNP C C T TEST_SAMPLE_2 Somatic NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000336375.5:c.127C>T p.Arg43Trp p.R43W ENST00000336375 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPAP_HUMAN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -ACP3 genome.wustl.edu GRCh37 3 132047117 132047117 0 Missense_Mutation SNP C C T TEST_SAMPLE_3 Somatic NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000336375.5:c.127C>T p.Arg43Trp p.R43W ENST00000336375 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPAP_HUMAN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -ACP3 genome.wustl.edu GRCh37 3 132047117 132047117 0 Missense_Mutation SNP C C T TEST_SAMPLE_4 Somatic NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000336375.5:c.127C>T p.Arg43Trp p.R43W ENST00000336375 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPAP_HUMAN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA -ACP3 genome.wustl.edu GRCh37 3 132047117 132047117 0 Missense_Mutation SNP C C T TEST_SAMPLE_15 Somatic NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000336375.5:c.127C>T p.Arg43Trp p.R43W ENST00000336375 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPAP_HUMAN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA diff --git a/end-to-end-test/local/test_data/study_es_0/data_resource_definition.txt b/end-to-end-test/local/test_data/study_es_0/data_resource_definition.txt deleted file mode 100644 index 7ead4f0a88e..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_resource_definition.txt +++ /dev/null @@ -1,4 +0,0 @@ -RESOURCE_ID DISPLAY_NAME DESCRIPTION RESOURCE_TYPE OPEN_BY_DEFAULT PRIORITY -PATHOLOGY_SLIDE Pathology Slide The pathology slide for the sample SAMPLE TRUE 1 -PATIENT_NOTES Patient Notes Notes about the patient PATIENT FALSE 2 -STUDY_SPONSORS Study Sponsors Sponsors of this study STUDY TRUE 3 \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/data_resource_patient.txt b/end-to-end-test/local/test_data/study_es_0/data_resource_patient.txt deleted file mode 100644 index ad9b93a8229..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_resource_patient.txt +++ /dev/null @@ -1,4 +0,0 @@ -PATIENT_ID RESOURCE_ID URL -TCGA-A2-A04P PATIENT_NOTES http://url-to-patient-notes-patient1 -TCGA-A1-A0SK PATIENT_NOTES http://url-to-patient-notes-patient2 -TCGA-A2-A0CM PATIENT_NOTES http://url-to-patient-notes-patient3 \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/data_resource_sample.txt b/end-to-end-test/local/test_data/study_es_0/data_resource_sample.txt deleted file mode 100644 index 241b0330d9e..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_resource_sample.txt +++ /dev/null @@ -1,4 +0,0 @@ -PATIENT_ID SAMPLE_ID RESOURCE_ID URL -TCGA-A2-A04P TCGA-A2-A04P-01 PATHOLOGY_SLIDE http://url-to-slide-sample1 -TCGA-A1-A0SK TCGA-A1-A0SK-01 PATHOLOGY_SLIDE http://url-to-slide-sample2 -TCGA-A2-A0CM TCGA-A2-A0CM-01 PATHOLOGY_SLIDE http://url-to-slide-sample3 \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/data_resource_study.txt b/end-to-end-test/local/test_data/study_es_0/data_resource_study.txt deleted file mode 100644 index 4f81bc201ec..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_resource_study.txt +++ /dev/null @@ -1,2 +0,0 @@ -RESOURCE_ID URL -STUDY_SPONSORS http://url-to-study-sponsors \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/data_structural_variants.txt b/end-to-end-test/local/test_data/study_es_0/data_structural_variants.txt deleted file mode 100644 index 91de51fb735..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_structural_variants.txt +++ /dev/null @@ -1,49 +0,0 @@ -Sample_Id Site1_Entrez_Gene_Id Site1_Hugo_Symbol Site1_Ensembl_Transcript_Id Site1_Region_Number Site1_Chromosome Site1_Position Site1_Region Site1_Description Site2_Entrez_Gene_Id Site2_Hugo_Symbol Site2_Ensembl_Transcript_Id Site2_Region_Number Site2_Chromosome Site2_Position Site2_Contig Site2_Region Site2_Description Site2_Effect_On_Frame NCBI_Build DNA_Support RNA_Support Normal_Read_Count Tumor_Read_Count Normal_Variant_Count Tumor_Variant_Count Normal_Paired_End_Read_Count Tumor_Paired_End_Read_Count Normal_Split_Read_Count Tumor_Split_Read_Count Annotation Breakpoint_Type Center Connection_Type Event_Info Class SV_Length Comments External_Annotation cbp_driver cbp_driver_annotation cbp_driver_tiers cbp_driver_tiers_annotation SV_Status StructVarNs.column1 StructVarNs2.lorem StructVarNs.column2 -TCGA-A2-A04P-01 NA PIEZO1 ENST00000242365 15 7 138536968 EXON PIEZO1-NCOA4.K16B10.COSF509_1 NA NCOA4 ENST00000288602 10 7 140482957 EXON PIEZO1-NCOA4.PIEZO1.COSF509_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA PIEZO1-NCOA4.K16B10.COSF509 NA NA NA Fusion NA NA Gain-of-Function COSMIC:COSF509 Putative_Driver Test driver Foo Class 4 Class annotation SOMATIC value1 ipsum value2 -TCGA-A2-A04P-01 NA KIAA1549 ENST00000242365 15 7 138536968 EXON KIAA1549-BRAF.K16B10.COSF509_1 NA BRAF ENST00000288602 10 7 140482957 EXON KIAA1549-BRAF.K16B10.COSF509_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA KIAA1549-BRAF.K16B10.COSF509 NA NA NA Fusion NA NA Gain-of-Function COSMIC:COSF509 Putative_Driver Test driver Class 4 Class annotation SOMATIC value1 ipsum value2 -TCGA-A2-A04P-01 NA NCOA4 ENST00000344348 7 10 51582939 EXON NCOA4-RET.N7R12_1 NA RET ENST00000340058 12 10 43612031 EXON NCOA4-RET.N7R12_2 NA GRCh37 no yes NA 1001 NA 800 NA NA NA NA NCOA4-RET.N7R1 NA NA NA Fusion NA NA Gain-of-Function NA Putative_Passenger Test driver Class 3 Class annotation SOMATIC -TCGA-A2-A04P-01 NA EML4 ENST00000318522 6 2 42492091 EXON EML4-ALK.E6bA20.AB374362_1 NA ALK ENST00000389048 20 2 29446394 EXON EML4-ALK.E6bA20.AB374362_2 NA GRCh37 no yes NA 1002 NA 700 NA NA NA NA EML4-ALK.E6bA20.AB374362 NA NA NA Fusion NA NA Gain-of-Function GENBANK:AB374362 Putative_Driver Test driver Class 2 Class annotation SOMATIC -TCGA-A2-A04P-01 NA TMPRSS2 ENST00000332149 1 21 42880007 EXON TMPRSS2-ERG.T1E2.COSF23.1_1 NA ERG ENST00000442448 2 21 39956869 EXON TMPRSS2-ERG.T1E2.COSF23.1_2 NA GRCh37 no yes NA 1003 NA 600 NA NA NA NA TMPRSS2-ERG.T1E2.COSF23.1 NA NA NA Fusion NA NA Gain-of-Function COSMIC:COSF23 Unknown Test driver Class 1 Class annotation SOMATIC -TCGA-A2-A04P-01 NA EGFR ENST00000275493 1 7 55087058 EXON EGFR-EGFR.E1E8.DelPositive.1_1 NA EGFR ENST00000275493 8 7 55223522 EXON EGFR-EGFR.E1E8.DelPositive.1_2 NA GRCh37 no yes NA 1004 NA 500 NA NA NA NA EGFR-EGFR.E1E8.DelPositive NA NA NA Fusion NA NA NA NA Putative_Driver Test driver Unknown Class annotation SOMATIC -TCGA-A2-A04P-01 NA ALK ENST00000389048 11 2 29497964 EXON ALK-PTPN3.A11P3_1 NA PTPN3 ENST00000374541 3 9 112219679 EXON ALK-PTPN3.A11P3_2 NA GRCh37 no yes NA 1005 NA 400 NA NA NA NA ALK-PTPN3.A11P3 NA NA NA Fusion NA NA NA NA NA NA NA NA SOMATIC -TCGA-A1-A0SB-01 NA EML4 ENST00000318522 13 2 42522656 EXON EML4-ALK.E13A20.AB462411_1 NA ALK ENST00000389048 20 2 29446335 EXON EML4-ALK.E13A20.AB462411_2 NA GRCh37 no yes NA 1006 NA 300 NA NA NA NA EML4-ALK.E13A20 NA NA NA Fusion NA NA Gain-of-Function GENBANK:AB462411 NA NA NA NA SOMATIC -TCGA-A1-A0SB-01 NA TMPRSS2 ENST00000455813 1 21 42870045 EXON TMPRSS2-ETV1.T1bE4_1 NA ETV1 ENST00000405358 4 7 14017105 EXON TMPRSS2-ETV1.T1bE4_2 NA GRCh37 no yes NA 1007 NA 200 NA NA NA NA TMPRSS2-ETV1.T1bE4 NA NA NA Fusion NA NA NA NA NA NA NA NA SOMATIC -TCGA-A2-A04P-01 NA NCOA4 ENST00000344348 7 10 51582939 EXON NCOA4-TTN.CUSTOMHYVE_1 NA TTN ENST00000589042 2 1 111111111 EXON NCOA4-TTN.CUSTOMHYVE_2 NA GRCh37 no yes NA 1008 NA 100 NA NA NA NA NCOA4-TTN.CUSTOMHYVE NA NA NA Fusion NA NA NA NA NA NA NA NA SOMATIC -TCGA-A2-A04P-01 NA TTN ENST00000589042 28 1 222222222 EXON TTN_ALK.CUSTOMHYVE_1 NA ALK ENST00000389048 20 2 29446394 EXON TTN_ALK.CUSTOMHYVE_2 NA GRCh37 no yes NA 1008 NA 100 NA NA NA NA TTN-ALK.CUSTOMHYVE NA NA NA Fusion NA NA NA NA NA NA NA NA SOMATIC -TCGA-A1-A0SK-01 NA PJA2 ENST00000361189 7 1 10000000 EXON PJA2_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON PJA2_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA PJA2_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A2-A0CM-01 NA GIPC2 ENST00000370759 3 1 10000000 EXON GIPC2_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON GIPC2_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA GIPC2_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-AR-A1AR-01 NA OSBPL9 ENST00000428468 11 1 10000000 EXON OSBPL9_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON OSBPL9_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA OSBPL9_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-B6-A0WX-01 NA RBM33 ENST00000401878 3 1 10000000 EXON RBM33_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON RBM33_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA RBM33_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-BH-A1F0-01 NA CDK5RAP2 ENST00000349780 13 1 10000000 EXON CDK5RAP2_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON CDK5RAP2_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA CDK5RAP2_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-B6-A0I6-01 NA CDK5RAP2 ENST00000349780 12 1 10000000 EXON CDK5RAP2_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON CDK5RAP2_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA CDK5RAP2_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-BH-A18V-01 NA SCRIB ENST00000320476 20 1 10000000 EXON SCRIB_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON SCRIB_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA SCRIB_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-BH-A18Q-01 NA PRKAR2B ENST00000265717 1 1 10000000 EXON PRKAR2B_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON PRKAR2B_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA PRKAR2B_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-BH-A18K-01 NA PRKAR1B ENST00000265717 10 1 10000000 EXON PRKAR1B_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON PRKAR1B_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA PRKAR1B_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-BH-A0HL-01 NA PHTF2 ENST00000248550 19 1 10000000 EXON PHTF2_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON PHTF2_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA PHTF2_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-BH-A0E0-01 NA ZNF207 ENST00000321233 3 1 10000000 EXON ZNF207_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON ZNF207_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA ZNF207_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-BH-A0RX-01 NA TLK2 ENST00000326270 2 1 10000000 EXON TLK2_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON TLK2_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA TLK2_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A7-A13D-01 NA TNS3 ENST00000311160 18 1 10000000 EXON TNS3_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON TNS3_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA TNS3_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-BH-A0E6-01 NA HERPUD1 ENST00000439977 6 1 10000000 EXON HERPUD1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON HERPUD1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA HERPUD1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-AO-A0J4-01 NA AGK ENST00000355413 2 1 10000000 EXON AGK_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON AGK_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA AGK_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A7-A0CE-01 NA AGK ENST00000355413 2 1 10000000 EXON AGK_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON AGK_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA AGK_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A7-A13E-01 NA AGK ENST00000355413 2 1 10000000 EXON AGK_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON AGK_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA AGK_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A7-A0DA-01 NA AGK ENST00000355413 2 1 10000000 EXON AGK_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON AGK_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA AGK_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-D8-A142-01 NA FAM131B ENST00000409222 3 1 10000000 EXON FAM131B_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON FAM131B_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA FAM131B_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-D8-A143-01 NA AGAP3 ENST00000397238 10 1 10000000 EXON AGAP3_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON AGAP3_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA AGAP3_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-AQ-A04J-01 NA AGAP3 ENST00000397238 9 1 10000000 EXON AGAP3_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON AGAP3_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA AGAP3_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-BH-A0HN-01 NA CUL1 ENST00000325222 7 1 10000000 EXON CUL1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON CUL1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA CUL1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A2-A0T0-01 NA SND1 ENST00000354725 20 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA SND1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A2-A0YE-01 NA SND1 ENST00000354725 18 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA SND1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A2-A0YJ-01 NA SND1 ENST00000354725 15 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA SND1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A2-A0D0-01 NA SND1 ENST00000354725 15 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA SND1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A2-A04U-01 NA SND1 ENST00000354725 12 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA SND1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-AO-A0J6-01 NA SND1 ENST00000354725 12 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA SND1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A2-A0YM-01 NA SND1 ENST00000354725 12 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA SND1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A2-A0D2-01 NA SND1 ENST00000354725 12 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA SND1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-BH-A0B3-01 NA SND1 ENST00000354725 10 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA SND1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A2-A04Q-01 NA SND1 ENST00000354725 10 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON SND1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA SND1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-A2-A0SX-01 NA MKRN1 ENST00000255977 4 1 10000000 EXON MKRN1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON MKRN1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA MKRN1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-AO-A0JL-01 NA MKRN1 ENST00000255977 4 1 10000000 EXON MKRN1_BRAF_CUSTOMHYVE_1 NA BRAF ENST00000288602 11 1 10000000 EXON MKRN1_BRAF_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA MKRN1_BRAF_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-AO-A0JL-01 NA BRAF ENST00000288602 6 1 10000000 EXON BRAF_TTN_CUSTOMHYVE_1 NA TTN ENST00000589042 2 1 111111111 EXON BRAF_TTN_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA BRAF_TTN_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-AO-A0JL-01 NA BRAF ENST00000288602 6 1 10000000 EXON BRAF_NULL_CUSTOMHYVE_1 NA 2 1 111111111 EXON BRAF_NULL_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA BRAF_NULL_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC -TCGA-AO-A0JL-01 NA 6 1 10000000 EXON NULL_TTN_CUSTOMHYVE_1 NA TTN ENST00000589042 2 1 111111111 EXON NULL_TTN_CUSTOMHYVE_2 NA GRCh37 no yes NA 1000 NA 900 NA NA NA NA NULL_TTN_CUSTOMHYVE NA NA NA Fusion NA NA Gain-of-Function NA NA NA NA NA SOMATIC diff --git a/end-to-end-test/local/test_data/study_es_0/data_treatment_ec50.txt b/end-to-end-test/local/test_data/study_es_0/data_treatment_ec50.txt deleted file mode 100644 index 7c4748eb178..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_treatment_ec50.txt +++ /dev/null @@ -1,11 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION URL TCGA-A1-A0SB-01 TCGA-A1-A0SD-01 TCGA-A1-A0SE-01 TCGA-A1-A0SH-01 TCGA-A2-A04U-01 TCGA-B6-A0RS-01 TCGA-BH-A0HP-01 TCGA-BH-A18P-01 -17-AAG Name of 17-AAG Desc of 17-AAG Url of 17-AAG 0.22807844 0.329701692 0.053038094 0.07082279 0.150094494 0.422571242 0.1517988 0.279530227 -AEW541 Name of AEW541 Desc of AEW541 Url of AEW541 > 8 2.329924107 2.68212986 5.002314091 1.736181378 4.260821819 > 8 7.613147736 -AZD0530 Name of AZD0530 Desc of AZD0530 Url of AZD0530 > 8 > 8 4.597949505 3.192236662 > 8 7.261883259 1.071310043 > 8 -AZD6244 Name of AZD6244 Desc of AZD6244 Url of AZD6244 > 8 > 8 > 8 > 8 > 8 > 8 > 8 > 8 -Erlotinib Name of Erlotinib Desc of Erlotinib Url of Erlotinib > 8 > 8 > 8 2.439512491 > 8 4.232964516 2.325097322 > 8 -Irinotecan Name of Irinotecan Desc of Irinotecan Url of Irinotecan NA 0.080764666 NA 0.06704437 0.069568723 0.034992039 0.740817904 0.209220141 -L-685458 Name of L-685458 Desc of L-685458 Url of L-685458 > 8 > 8 3.267752409 > 8 > 8 0.332892686 > 8 > 8 -Lapatinib Name of Lapatinib Desc of Lapatinib Url of Lapatinib > 8 7.847305298 > 8 2.30776763 > 8 0.849476227 1.057461143 7.178035259 -LBW242 Name of LBW242 Desc of LBW242 Url of LBW242 > 8 > 8 > 8 > 8 > 8 > 8 > 8 > 8 -Nilotinib Name of Nilotinib Desc of Nilotinib Url of Nilotinib NA > 8 NA 7.475354671 > 8 1.910434365 > 8 > 8 diff --git a/end-to-end-test/local/test_data/study_es_0/data_treatment_ic50.txt b/end-to-end-test/local/test_data/study_es_0/data_treatment_ic50.txt deleted file mode 100644 index cd9c47f0c1f..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/data_treatment_ic50.txt +++ /dev/null @@ -1,11 +0,0 @@ -ENTITY_STABLE_ID NAME DESCRIPTION URL TCGA-A1-A0SB-01 TCGA-A1-A0SD-01 TCGA-A1-A0SE-01 TCGA-A1-A0SH-01 TCGA-A2-A04U-01 TCGA-B6-A0RS-01 TCGA-BH-A0HP-01 TCGA-BH-A18P-01 -17-AAG Name of 17-AAG Desc of 17-AAG Url of 17-AAG 0.22807844 0.329701692 0.053038094 0.07082279 0.150094494 0.422571242 0.1517988 0.279530227 -AEW541 Name of AEW541 Desc of AEW541 Url of AEW541 >8 2.329924107 2.68212986 5.002314091 1.736181378 4.260821819 >8 7.613147736 -AZD0530 Name of AZD0530 Desc of AZD0530 Url of AZD0530 >8 >8 4.597949505 3.192236662 >8 7.261883259 0.123 >8 -AZD6244 Name of AZD6244 Desc of AZD6244 Url of AZD6244 >8 >8 >8 >8 >8 >8 >8 >8 -Erlotinib Name of Erlotinib Desc of Erlotinib Url of Erlotinib >8 >8 >8 2.439512491 >8 4.232964516 2.325097322 >8 -Irinotecan Name of Irinotecan Desc of Irinotecan Url of Irinotecan NA 0.080764666 NA 0.06704437 0.069568723 0.034992039 0.740817904 0.209220141 -L-685458 Name of L-685458 Desc of L-685458 Url of L-685458 >8 >8 3.267752409 >8 >8 0.332892686 >8 >8 -Lapatinib Name of Lapatinib Desc of Lapatinib Url of Lapatinib >8 7.847305298 >8 2.30776763 >8 0.849476227 1.057461143 7.178035259 -LBW242 Name of LBW242 Desc of LBW242 Url of LBW242 >8 >8 >8 >8 >8 >8 >8 >8 -Nilotinib Name of Nilotinib Desc of Nilotinib Url of Nilotinib NA >8 NA 7.475354671 >8 1.910434365 >8 >8 diff --git a/end-to-end-test/local/test_data/study_es_0/meta_cancer_type.txt b/end-to-end-test/local/test_data/study_es_0/meta_cancer_type.txt deleted file mode 100644 index a4cae8fdf71..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_cancer_type.txt +++ /dev/null @@ -1,3 +0,0 @@ -genetic_alteration_type: CANCER_TYPE -datatype: CANCER_TYPE -data_filename: data_cancer_type.txt diff --git a/end-to-end-test/local/test_data/study_es_0/meta_clinical_patients.txt b/end-to-end-test/local/test_data/study_es_0/meta_clinical_patients.txt deleted file mode 100644 index 5ff93a44ed1..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_clinical_patients.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: CLINICAL -datatype: PATIENT_ATTRIBUTES -data_filename: data_clinical_patients.txt diff --git a/end-to-end-test/local/test_data/study_es_0/meta_clinical_samples.txt b/end-to-end-test/local/test_data/study_es_0/meta_clinical_samples.txt deleted file mode 100644 index 7e4f674161b..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_clinical_samples.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: CLINICAL -datatype: SAMPLE_ATTRIBUTES -data_filename: data_clinical_samples.txt diff --git a/end-to-end-test/local/test_data/study_es_0/meta_cna_discrete.txt b/end-to-end-test/local/test_data/study_es_0/meta_cna_discrete.txt deleted file mode 100644 index 3cc10e71e0c..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_cna_discrete.txt +++ /dev/null @@ -1,9 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: COPY_NUMBER_ALTERATION -datatype: DISCRETE_LONG -stable_id: gistic -show_profile_in_analysis_tab: true -profile_description: Putative copy-number from GISTIC 2.0. Values: -2 = homozygous deletion; -1 = hemizygous deletion; 0 = neutral / no change; 1 = gain; 2 = high level amplification. -profile_name: Putative copy-number alterations from GISTIC -data_filename: data_cna_discrete.txt -namespaces: MyNamespace,MyNamespace2 diff --git a/end-to-end-test/local/test_data/study_es_0/meta_cna_hg19_seg.txt b/end-to-end-test/local/test_data/study_es_0/meta_cna_hg19_seg.txt deleted file mode 100644 index f17e1657619..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_cna_hg19_seg.txt +++ /dev/null @@ -1,6 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: COPY_NUMBER_ALTERATION -datatype: SEG -reference_genome_id: hg19 -description: Somatic CNA data (copy number ratio from tumor samples minus ratio from matched normals) from TCGA. -data_filename: data_cna_hg19.seg diff --git a/end-to-end-test/local/test_data/study_es_0/meta_cna_log2.txt b/end-to-end-test/local/test_data/study_es_0/meta_cna_log2.txt deleted file mode 100644 index 74a07b8ef39..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_cna_log2.txt +++ /dev/null @@ -1,8 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: COPY_NUMBER_ALTERATION -datatype: LOG2-VALUE -stable_id: log2CNA -show_profile_in_analysis_tab: false -profile_description: Log2 copy-number values for each gene (from Affymetrix SNP6). -profile_name: Log2 copy-number values -data_filename: data_cna_log2.txt diff --git a/end-to-end-test/local/test_data/study_es_0/meta_expression_median.txt b/end-to-end-test/local/test_data/study_es_0/meta_expression_median.txt deleted file mode 100644 index 1e2fc6a713e..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_expression_median.txt +++ /dev/null @@ -1,8 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: MRNA_EXPRESSION -datatype: CONTINUOUS -stable_id: mrna -profile_description: Expression levels (Agilent microarray). -show_profile_in_analysis_tab: false -profile_name: mRNA expression (microarray) -data_filename: data_expression_median.txt diff --git a/end-to-end-test/local/test_data/study_es_0/meta_expression_median_Zscores.txt b/end-to-end-test/local/test_data/study_es_0/meta_expression_median_Zscores.txt deleted file mode 100644 index d244aa01413..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_expression_median_Zscores.txt +++ /dev/null @@ -1,9 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: MRNA_EXPRESSION -datatype: Z-SCORE -stable_id: mrna_median_Zscores -source_stable_id: mrna -profile_description: mRNA expression levels (Agilent microarray) Z-Score normalized (https://github.com/cBioPortal/cbioportal/blob/master/docs/File-Formats.md#z-score-instructions). -show_profile_in_analysis_tab: true -profile_name: mRNA expression (microarray) Z-Score normalized -data_filename: data_expression_median_Zscores.txt diff --git a/end-to-end-test/local/test_data/study_es_0/meta_gene_panel_matrix.txt b/end-to-end-test/local/test_data/study_es_0/meta_gene_panel_matrix.txt deleted file mode 100644 index 440f19c3d84..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_gene_panel_matrix.txt +++ /dev/null @@ -1,4 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: GENE_PANEL_MATRIX -datatype: GENE_PANEL_MATRIX -data_filename: data_gene_panel_matrix.txt diff --git a/end-to-end-test/local/test_data/study_es_0/meta_generic_assay_patient_test.txt b/end-to-end-test/local/test_data/study_es_0/meta_generic_assay_patient_test.txt deleted file mode 100644 index add465d5493..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_generic_assay_patient_test.txt +++ /dev/null @@ -1,11 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: GENERIC_ASSAY_PATIENT_TEST -datatype: LIMIT-VALUE -stable_id: generic_assay_patient_test -profile_name: generic assay patient test profile -profile_description: test patient profile for generic assay -data_filename: data_generic_assay_patient_test.txt -show_profile_in_analysis_tab: true -patient_level: true -generic_entity_meta_properties: name,description \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/meta_gistic_genes_amp.txt b/end-to-end-test/local/test_data/study_es_0/meta_gistic_genes_amp.txt deleted file mode 100644 index 02a25caec88..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_gistic_genes_amp.txt +++ /dev/null @@ -1,5 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: GISTIC_GENES_AMP -datatype: Q-VALUE -reference_genome_id: hg19 -data_filename: data_gistic_genes_amp.txt diff --git a/end-to-end-test/local/test_data/study_es_0/meta_gsva_pvalues.txt b/end-to-end-test/local/test_data/study_es_0/meta_gsva_pvalues.txt deleted file mode 100644 index 59b8254cd8d..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_gsva_pvalues.txt +++ /dev/null @@ -1,9 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: GENESET_SCORE -datatype: P-VALUE -stable_id: gsva_pvalues -source_stable_id: gsva_scores -profile_name: Pvalues of GSVA scores on oncogenic signatures gene sets -profile_description: Pvalues GSVA scores using mRNA expression data -data_filename: data_gsva_pvalues.txt -geneset_def_version: msigdb_7.5.1 diff --git a/end-to-end-test/local/test_data/study_es_0/meta_gsva_scores.txt b/end-to-end-test/local/test_data/study_es_0/meta_gsva_scores.txt deleted file mode 100644 index 16874d408a9..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_gsva_scores.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: GENESET_SCORE -datatype: GSVA-SCORE -stable_id: gsva_scores -source_stable_id: mrna -profile_name: GSVA scores on oncogenic signatures gene sets -profile_description: GSVA scores using mRNA expression data -data_filename: data_gsva_scores.txt -show_profile_in_analysis_tab: true -geneset_def_version: msigdb_7.5.1 diff --git a/end-to-end-test/local/test_data/study_es_0/meta_methylation_hm27.txt b/end-to-end-test/local/test_data/study_es_0/meta_methylation_hm27.txt deleted file mode 100644 index 582b12e97c9..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_methylation_hm27.txt +++ /dev/null @@ -1,8 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: METHYLATION -datatype: CONTINUOUS -stable_id: methylation_hm27 -profile_description: Methylation beta-values (HM27 platform). For genes with multiple methylation probes, the probe least correlated with expression is selected. -show_profile_in_analysis_tab: false -profile_name: Methylation (HM27) -data_filename: data_methylation_hm27.txt diff --git a/end-to-end-test/local/test_data/study_es_0/meta_mutational_signature.txt b/end-to-end-test/local/test_data/study_es_0/meta_mutational_signature.txt deleted file mode 100644 index 470f704d194..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_mutational_signature.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: MUTATIONAL_SIGNATURE -datatype: LIMIT-VALUE -stable_id: mutational_signature -profile_name: generic assay test profile -profile_description: test profile for generic assay -data_filename: data_mutational_signature.txt -show_profile_in_analysis_tab: true -generic_entity_meta_properties: name,description,confidenceStatement \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/meta_mutations_extended.txt b/end-to-end-test/local/test_data/study_es_0/meta_mutations_extended.txt deleted file mode 100644 index 94df92aa5d9..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_mutations_extended.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: MUTATION_EXTENDED -datatype: MAF -stable_id: mutations -show_profile_in_analysis_tab: true -profile_description: Mutation data from whole exome sequencing. -profile_name: Mutations -data_filename: data_mutations_extended.maf -swissprot_identifier: name -namespaces: Zygosity diff --git a/end-to-end-test/local/test_data/study_es_0/meta_resource_definition.txt b/end-to-end-test/local/test_data/study_es_0/meta_resource_definition.txt deleted file mode 100644 index 9016a0ffaf8..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_resource_definition.txt +++ /dev/null @@ -1,3 +0,0 @@ -cancer_study_identifier: study_es_0 -resource_type: DEFINITION -data_filename: data_resource_definition.txt \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/meta_resource_patient.txt b/end-to-end-test/local/test_data/study_es_0/meta_resource_patient.txt deleted file mode 100644 index 2dc33f724d2..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_resource_patient.txt +++ /dev/null @@ -1,3 +0,0 @@ -cancer_study_identifier: study_es_0 -resource_type: PATIENT -data_filename: data_resource_patient.txt \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/meta_resource_sample.txt b/end-to-end-test/local/test_data/study_es_0/meta_resource_sample.txt deleted file mode 100644 index a255170402f..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_resource_sample.txt +++ /dev/null @@ -1,3 +0,0 @@ -cancer_study_identifier: study_es_0 -resource_type: SAMPLE -data_filename: data_resource_sample.txt \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/meta_resource_study.txt b/end-to-end-test/local/test_data/study_es_0/meta_resource_study.txt deleted file mode 100644 index 8a2e2fd2957..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_resource_study.txt +++ /dev/null @@ -1,3 +0,0 @@ -cancer_study_identifier: study_es_0 -resource_type: STUDY -data_filename: data_resource_study.txt \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/meta_structural_variants.txt b/end-to-end-test/local/test_data/study_es_0/meta_structural_variants.txt deleted file mode 100644 index 7c5c5a91d23..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_structural_variants.txt +++ /dev/null @@ -1,10 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: STRUCTURAL_VARIANT -datatype: SV -data_filename: data_structural_variants.txt -stable_id: structural_variants -profile_name: Targeted Fusion Assay data (Fake data) -profile_description: Targeted Fusion Assay data created by The Hyve -show_profile_in_analysis_tab: true -gene_panel: TESTPANEL1 -namespaces: StructVarNs,StructVarNs2 diff --git a/end-to-end-test/local/test_data/study_es_0/meta_study.txt b/end-to-end-test/local/test_data/study_es_0/meta_study.txt deleted file mode 100644 index c0a01d2480a..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_study.txt +++ /dev/null @@ -1,10 +0,0 @@ -type_of_cancer: brca-es0 -cancer_study_identifier: study_es_0 -name: Test study es_0 -description: Test study es_0 -citation: Cell 2018 -pmid: 29625048,29596782,29622463,29617662,29625055,29625050 -groups: PUBLIC;GDAC;SU2C-PI3K -add_global_case_list: true -tags_file: study_tags.yml -reference_genome: hg19 diff --git a/end-to-end-test/local/test_data/study_es_0/meta_treatment_ec50.txt b/end-to-end-test/local/test_data/study_es_0/meta_treatment_ec50.txt deleted file mode 100644 index efcb126b8f9..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_treatment_ec50.txt +++ /dev/null @@ -1,12 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: TREATMENT_RESPONSE -datatype: LIMIT-VALUE -stable_id: treatment_ec50 -profile_name: EC50 values of compounds on cellular phenotype readout -profile_description: EC50 (compound concentration resulting in half maximal activation) of compounds on cellular phenotype readout of cultured mutant cell lines. -data_filename: data_treatment_ec50.txt -show_profile_in_analysis_tab: true -pivot_threshold_value: 0.1 -value_sort_order: ASC -generic_entity_meta_properties: NAME,DESCRIPTION,URL \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/meta_treatment_ic50.txt b/end-to-end-test/local/test_data/study_es_0/meta_treatment_ic50.txt deleted file mode 100644 index 0d3281cd77e..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/meta_treatment_ic50.txt +++ /dev/null @@ -1,12 +0,0 @@ -cancer_study_identifier: study_es_0 -genetic_alteration_type: GENERIC_ASSAY -generic_assay_type: TREATMENT_RESPONSE -datatype: LIMIT-VALUE -stable_id: treatment_ic50 -profile_name: IC50 values of compounds on cellular phenotype readout -profile_description: IC50 (compound concentration resulting in half maximal inhibition) of compounds on cellular phenotype readout of cultured mutant cell lines. -data_filename: data_treatment_ic50.txt -show_profile_in_analysis_tab: true -pivot_threshold_value: 0.1 -value_sort_order: ASC -generic_entity_meta_properties: NAME,DESCRIPTION,URL \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/result_report.html b/end-to-end-test/local/test_data/study_es_0/result_report.html deleted file mode 100644 index a73fb7944a0..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/result_report.html +++ /dev/null @@ -1,3195 +0,0 @@ - - - - - - - - - - - - - cBioPortal validation report: study in 'test_data/study_es_0/' - - - - - -
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cBioPortal validation report

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Study directory:
test_data/study_es_0/

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For details, please see the documentation on file formats supported by cBioPortal

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cBioPortal version unknown -- offline instance

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- Validation status: - - Success - -
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Line NumberColumn NumberMessageValue Encountered
Debug––Reading portal information from test_data/api_json_system_tests/cancer-types.json–
Debug––Reading portal information from test_data/api_json_system_tests/genes.json–
Debug––Reading portal information from test_data/api_json_system_tests/genesets.json–
Debug––Reading portal information from test_data/api_json_system_tests/genesets_version.json–
Debug––Reading portal information from test_data/api_json_system_tests/gene-panels.json–
Debug––Reading portal information from test_data/api_json_system_tests/genesaliases.json–
Debug––Retrieving chromosome lengths from '/cbioportal/core/src/main/resources/scripts/importer/chromosome_sizes.json'–
Debug––Retrieving chromosome lengths from '/cbioportal/core/src/main/resources/scripts/importer/chromosome_sizes.json'–
Debug––Study Tag file found. It will be validated.–
Debug––Validating case lists–
Info––Validation of case list folder complete–
Info––Validation complete–
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Line NumberColumn NumberMessageValue Encountered
Debug––Starting validation of meta file–
Info––Validation of meta file complete–
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Line NumberColumn NumberMessageValue Encountered
Debug––Starting validation of meta file–
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Debug––Starting validation of meta file–
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Line NumberColumn NumberMessageValue Encountered
Debug––Starting validation of meta file–
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Debug––Starting validation of meta file–
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Line NumberColumn NumberMessageValue Encountered
Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 1 lines. Lines with warning: 0. Lines with error: 0–
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Line NumberColumn NumberMessageValue Encountered
Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 846 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 850 lines. Lines with warning: 0. Lines with error: 0–
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Line NumberColumn NumberMessageValue Encountered
Debug––Starting validation of file–
Info154, 155, 844…6Values contained in the column cbp_driver_tiers that will appear in the "Mutation Color" menu of the OncoprintClass 2, Class 1 - See all 4 values - -
Info––Validation of file complete–
Info––Read 6305 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 10 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
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Info––Read 8 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 7 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 6 lines. Lines with warning: 0. Lines with error: 0–
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Line NumberColumn NumberMessageValue Encountered
Debug––Starting validation of file–
Info1–This column can be replaced by a 'gene_panel' property in the respective meta filegistic
Info––Validation of file complete–
Info––Read 21 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 3 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 12 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 8 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 8 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 9 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 61 lines. Lines with warning: 0. Lines with error: 0–
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Line NumberColumn NumberMessageValue Encountered
Debug––Starting validation of file–
Info4, 5, 6…164Values contained in the column cbp_driver_tiers that will appear in the "Mutation Color" menu of the OncoprintClass 2, Class 1, Class 4… - See all 11 values - -
Info7, 9–Line will not be loaded due to the variant classification filter. Filtered types: [Silent, Intron, 3'UTR, 3'Flank, 5'UTR, 5'Flank, IGR, RNA]Silent
Info––Validation of file complete–
Info––Read 38 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 4 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 4 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 4 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 2 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info48–No Entrez gene id or gene symbol provided for site 2. Assuming either the intragenic, deletion, duplication, translocation or inversion variant–
Info49–No Entrez gene id or gene symbol provided for site 1. Assuming either the intragenic, deletion, duplication, translocation or inversion variant–
Info––Validation of file complete–
Info––Read 49 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 11 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of file–
Info––Validation of file complete–
Info––Read 11 lines. Lines with warning: 0. Lines with error: 0–
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Debug––Starting validation of meta file–
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Debug––Starting validation of meta file–
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Debug––Starting validation of meta file–
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Debug––Starting validation of meta file–
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Debug––Starting validation of meta file–
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Debug––Starting validation of meta file–
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Debug––Starting validation of meta file–
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Debug––Starting validation of meta file–
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Debug––Starting validation of meta file–
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Debug––Starting validation of meta file–
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Debug––Starting validation of meta file–
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Debug––Starting validation of meta file–
Info––Validation of meta file complete–
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Debug––Starting validation of meta file–
Info––Validation of meta file complete–
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Debug––Starting validation of meta file–
Info––Validation of meta file complete–
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Debug––Starting validation of meta file–
Info––Validation of meta file complete–
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Debug––Starting validation of meta file–
Info––Validation of meta file complete–
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Debug––Starting validation of meta file–
Info––Validation of meta file complete–
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Debug––Starting validation of meta file–
Info––Validation of meta file complete–
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Debug––Starting validation of meta file–
Info––Validation of meta file complete–
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Debug––Starting validation of meta file–
Info––Validation of meta file complete–
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Debug––Starting validation of meta file–
Info––Validation of meta file complete–
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Debug––Starting validation of meta file–
Info––Validation of meta file complete–
Info––Setting reference genome to human (GRCh37, hg19)–
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Debug––Starting validation of meta file–
Info––Validation of meta file complete–
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Debug––Starting validation of meta file–
Info––Validation of meta file complete–
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Debug––Starting validation of study tags file–
Info––Validation of study tags file complete.–
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- Click on a filename below to see a table of messages about the data - in the file. The colors in the tables have the following meanings: -

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ErrorError: cBioPortal will not know how to load this, please revise or remove
WarningWarning: possible cause of confusion, please check whether this is intended
InfoInfo: this looks good, no action required
DebugVerbose output: details on the progress of the validation script
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- - \ No newline at end of file diff --git a/end-to-end-test/local/test_data/study_es_0/study_tags.yml b/end-to-end-test/local/test_data/study_es_0/study_tags.yml deleted file mode 100644 index 2d1cb9e3695..00000000000 --- a/end-to-end-test/local/test_data/study_es_0/study_tags.yml +++ /dev/null @@ -1,18 +0,0 @@ -Analyst: - name: Jack - email: jack@xyz.com -Loaded by: Jill -Load id: 34 -git id: xxqaygqertqsg98qhpughqer -Analysis Id: 7asdlnagsd98gfaqsgf -Load Date: July 12, 2018 -Data Source: Study XY123-456 -Jira Ticket: Foo-1 -Confluence URL: http://myserver/wxyz -Study sponsors: - - - name: john - email: john@@xyz.com - - - name: jane - email: jane@@xyz.com diff --git a/scripts/e2e.sh b/scripts/e2e.sh index 0f8cd24503e..0e548f51b78 100755 --- a/scripts/e2e.sh +++ b/scripts/e2e.sh @@ -1,83 +1,83 @@ -#!/usr/bin/env bash - -MY_PATH="`dirname \"$0\"`" # relative -MY_PATH="`( cd \"$MY_PATH\" && pwd )`" # absolutized and normalized -if [ -z "$MY_PATH" ] ; then - # error; for some reason, the path is not accessible - # to the script (e.g. permissions re-evaled after suid) - exit 1 # fail +#!/bin/sh +set -e +set -o allexport + +TEST_REPO_URL="https://github.com/cBioPortal/cbioportal-test.git" +DOCKER_COMPOSE_REPO_URL="https://github.com/cBioPortal/cbioportal-docker-compose.git" +STUDIES='ascn_test_study study_hg38 teststudy_genepanels study_es_0 lgg_ucsf_2014_test_generic_assay' +APPLICATION_PROPERTIES_PATH=$(cd -- "$(dirname -- "$0")" && cd .. && pwd)/end-to-end-test/local/runtime-config/portal.properties +KEYCLOAK="true" +RUN_FRONTEND="false" # Set to "true" if you want to build and run frontend at localhost:3000 +RUN_TESTS="false" # Set to "true" if you want to run all e2e:local tests + +# Use database image with preloaded studies +export DOCKER_IMAGE_MYSQL=cbioportal/mysql:8.0-database-test + +# Use custom application properties +export APPLICATION_PROPERTIES_PATH=$APPLICATION_PROPERTIES_PATH + +# Backend image +export DOCKER_IMAGE_CBIOPORTAL=cbioportal/cbioportal:master + +# Create a temp dir and clone test repo +ROOT_DIR=$(pwd) +TEMP_DIR=$(mktemp -d) +git clone "$TEST_REPO_URL" "$TEMP_DIR/cbioportal-test" || exit 1 +git clone "$DOCKER_COMPOSE_REPO_URL" "$TEMP_DIR/cbioportal-docker-compose" || exit 1 +cd "$TEMP_DIR/cbioportal-test" || exit 1 + +# Generate keycloak config +if [ "$KEYCLOAK" = "true" ]; then + ./utils/gen-keycloak-config.sh --studies="$STUDIES" --template='$TEMP_DIR/cbioportal-docker-compose/dev/keycloak/keycloak-config.json' --out='keycloak-config-generated.json' + export KEYCLOAK_CONFIG_PATH="$TEMP_DIR/cbioportal-test/keycloak-config-generated.json" fi +# Start backend +if [ "$KEYCLOAK" = "true" ]; then + ./scripts/docker-compose.sh --portal_type='keycloak' --docker_args='-d' -# check for docker -DOCKER_RESP=$(docker version) -if grep -q "Is the docker daemon running?" <<< "$DOCKER_RESP"; then - echo "You need to start the docker daemon" - exit 1 #fail -fi - -# check for jq -JQ_RESP=$(which jq) -if [ ${#JQ_RESP} -eq 0 ]; then - echo "You need to install the jq package (brew install jq)" - exit 1 #fail -fi - - -SPIN_UP=false - -while true; do - read -p "Do you wish to build containers? (default=no) " yn - case $yn in - [Yy]* ) SPIN_UP=true;break;; - [Nn]* ) break;; - * ) break;; - esac -done - -echo $SPIN_UP; - - -export PORTAL_SOURCE_DIR=$PWD; - -export TEST_HOME=$PORTAL_SOURCE_DIR/end-to-end-test/local -export E2E_WORKSPACE=$PORTAL_SOURCE_DIR/e2e-localdb-workspace -export DB_DATA_DIR=$E2E_WORKSPACE/cbio_db_data - -cd $PORTAL_SOURCE_DIR - -export BACKEND=cbioportal:master -export BRANCH_ENV="http://localhost:8080" -export GENOME_NEXUS_URL="https://www.genomenexus.org" - -echo "$TEST_HOME" - -cat <<< $($TEST_HOME/runtime-config/setup_environment.sh) -$($TEST_HOME/runtime-config/setup_environment.sh) - -if [[ "$(uname -s)" == "Darwin" ]] && [[ "$(sysctl -n machdep.cpu.brand_string)" =~ ^Apple\ M.*$ ]]; then - # if macOS and M-series chip, use images for ARM architecture - export DOCKER_IMAGE_MYSQL=biarms/mysql:5.7 + # Check keycloak connection at localhost:8081 + ./utils/check-connection.sh --url=localhost:8081 --max_retries=50 else - # else use images for x86_64 architecture - export DOCKER_IMAGE_MYSQL=mysql:5.7 + ./scripts/docker-compose.sh --portal_type='web-and-data' --docker_args='-d' fi -if [ "$SPIN_UP" = "true" ] -then - #cleanup - rm -rf $E2E_WORKSPACE/kc_db_data - rm -rf $E2E_WORKSPACE/cbioportal-docker-compose - rm -rf $E2E_WORKSPACE/cbio_db_data - - $TEST_HOME/docker_compose/setup.sh - [ $CUSTOM_BACKEND -eq 1 ] && $TEST_HOME/docker_compose/build.sh - mkdir -p $E2E_WORKSPACE/cbio_db_data - $TEST_HOME/docker_compose/initdb.sh +# Check backend connection at localhost:8080 +./utils/check-connection.sh --url=localhost:8080/api/health --max_retries=50 + +if [ "$RUN_FRONTEND" = "true" ]; then + # Build frontend + printf "\nBuilding frontend ...\n\n" + cd "$ROOT_DIR" || exit 1 + export BRANCH_ENV=master + yarn install --frozen-lockfile + yarn run buildAll + + # Start frontend http server, delete if previous server exists + if [ -e "/var/tmp/cbioportal-pid" ]; then + pkill -F /var/tmp/cbioportal-pid + fi + openssl \ + req -newkey rsa:2048 -new -nodes -x509 -days 1 -keyout key.pem -out cert.pem -subj "/C=US/ST=Denial/L=Springfield/O=Dis/CN=localhost" && \ + nohup ./node_modules/http-server/bin/http-server --cors dist/ -p 3000 > /dev/null 2>&1 & + echo $! > /var/tmp/cbioportal-pid + + # Wait for frontend at localhost:3000 + printf "\nVerifying frontend connection ...\n\n" + cd "$TEMP_DIR/cbioportal-test" || exit 1 + ./utils/check-connection.sh --url=localhost:3000 fi -$TEST_HOME/docker_compose/start.sh +if [ "$RUN_TESTS" = "true" ]; then + # Build e2e localdb tests + cd "$ROOT_DIR/end-to-end-test" || exit 1 + yarn --ignore-engines -export CBIOPORTAL_URL=http://localhost:8080 + # Run e2e localdb tests + cd "$ROOT_DIR" || exit 1 + yarn run e2e:local +fi -cd end-to-end-test +# Cleanup +cd "$ROOT_DIR" || exit 1 +rm -rf "$TEMP_DIR" \ No newline at end of file diff --git a/scripts/localdb_env_vars.sh b/scripts/localdb_env_vars.sh deleted file mode 100755 index 82f135bed5e..00000000000 --- a/scripts/localdb_env_vars.sh +++ /dev/null @@ -1,6 +0,0 @@ -export BACKEND=cbioportal:master -export PORTAL_SOURCE_DIR=$(pwd) # change path if needed -export CBIO_DB_DATA_DIR=$E2E_WORKSPACE/cbio_db_data # change path if needed -export TEST_HOME="$PORTAL_SOURCE_DIR/end-to-end-test" -export CHROMEDRIVER_VERSION=83.0.4103.39 -export CBIOPORTAL_URL='http://localhost:8081' diff --git a/scripts/setup_localdb.sh b/scripts/setup_localdb.sh deleted file mode 100644 index 4bf84a5fed9..00000000000 --- a/scripts/setup_localdb.sh +++ /dev/null @@ -1,21 +0,0 @@ -export BACKEND=cbioportal:master -export PORTAL_SOURCE_DIR=$(pwd) # change path if needed -export CBIO_DB_DATA_DIR=$E2E_WORKSPACE/cbio_db_data # change path if needed -export TEST_HOME="$PORTAL_SOURCE_DIR/end-to-end-test" -export CHROMEDRIVER_VERSION=83.0.4103.39 -export CBIOPORTAL_URL='http://localhost:8081' -source $PORTAL_SOURCE_DIR/env/custom.sh -cd $TEST_HOME/runtime-config -eval "$(./setup_environment.sh)" -cd $PORTAL_SOURCE_DIR - -$TEST_HOME/runtime-config/setup_local_context.sh -p -d -e # remove flags to exclude specific stages if desired (see below) -cd $PORTAL_SOURCE_DIR - - - -#During rebuilding of the development environment the developer can specify which stept should be executed by providing -# -j (building of frontent code), -# -d (building of database), -# -p (building of cbioportal) -# -e (building of e2e service) flags to the setup_local_context.sh script. For instance, to rebuild the database and start all containers the script can be executed as: